First Aid
First Aid
First Aid
CRUSH USMLE
STEP 2CK & Step 3
(Fourth Edition)
YALE GONG, MD, MS
Senior Clinical Investigator
Perelman School of Medicine
University of Pennsylvania
Philadelphia, Pennsylvania
Copyright © 2017, 2016, 2015, 2013, 2010 by Yale Gong in the United States of
America. All rights reserved. No part of this book may be reproduced or distributed in
any form or by any means without prior written permission from the copyright owner.
Copyright infringement will face serious legal consequences!
Gong, Yale
YALE-G FIRST AID: CRUSH USMLE STEP 2CK & STEP 3
(4th Edition)/ By Yale Gong.
p. ; cm.
ISBN13: 978-1634150859
Contact: yaleg.usmle@gmail.com
Matthew A. Warner, MD
Anesthesiologist
Mayo Medical School and Mayo Clinic
Rochester, Minnesota
*www.usmle.org: “USMLE Step 3: Examinees are seeing increased numbers of items that assess an expanded range
of competency-based content, including foundational science essential for effective healthcare; biostatistics,
epidemiology, and population health; literature interpretation; medical ethics; and patient safety.”
Table of Contents and Classified Index
Infectious diseases are among the most common disorders that we encounter in our daily lives. They can affect any
organ or system in the body and cause us tremendous losses. Therefore, they deserve adequate attention. While the
major pathogens causing particular diseases have not changed much over time, the sensitivity pattern of these
microorganisms to antibiotics has changed dramatically in recent years. Thus culture and sensitivity (C/S) is still the
best guide to antibiotic treatment of infectious diseases.
PEARLS: HIGH-YIELD CLINICAL POINTS OF ANTIBIOTICS
V. Special Antibiotics
1. Beta-lactam antibiotics--Penicillins, cephalosporins, carbapenems and aztreonam: More effective than most
others in the same class.
2. Anti-pseudomonal plus anti-beta-lactamase penicillins: Piperacillin-tazobactam; ticarcillin-clavulanate).
3. Vancomycin: Strongly bactericidal against most Gram positives (including Staphylococci, MRSA), anaerobes,
diphtheroids, and clostridium species. It’s usually saved for patients allergic to beta-lactam antibiotics, with MRSA
or persistent anaerobic infection. Vancomycin should be combined with an aminoglycoside for a complex infection
with both Gram+ and Gram- bacteria.
4. Doxycycline: Effective against Chlamydia, limited Lyme disease, Rickettsia, primary and secondary syphilis
patients allergic to penicillins, Mycoplasma, Borrelia, and Ehrlichia. Adverse effects include tooth discoloration
(before age 8), Fanconi syndrome (Type II RTA), photosensitivity, and esophagitis or ulcer.
INFECTIONS OF THE EYES, EAR, NOSE, AND THROAT
EYE INFECTIONS
Common eye infections are summarized in Table 1-1.
Figure 1-1: Clinical Course and Serology of Hepatitis B Infection (Courtesy of www.gribbles.com)
Treatment
1. Acute phase: Supportive therapy is the mainstream of treatment; there is no specific therapy.
2. Chronic HB: The new effective antiviral treatment is 6-12 months of entecavir (initially) or tenofovir DF (less
risk of resistance). Lamivudine, adefovir, or telbivudine may have more risk of resistance and alpha-
interferon (PegIFN) has more adverse effects. The goal is to reduce the viral load and convert HBeAg (+) state
into anti-HBe (+) state. Adverse effects of alpha-interferon include depression, flu-like symptoms, arthralgia,
myalgia, leukopenia, and thrombocytopenia.
3. Fulminant HB or liver failure: Liver transplantation is the last resort of treatment.
Prophylaxis—Important!
HBV vaccine (recombinant HBsAg) is the only vaccination that prevents HBV infection and liver carcinoma
effectively. Anti-HBc is never seen after the vaccination. It requires a series of three vaccinations for the patient to
develop immunity. However, not all patients will have the immunity, and thus testing the titers is necessary.
PEARLS: Recommended vaccination for HBV:
1. Indicated for all newborns and high-risk people (per 10 years)—healthcare workers and chronic liver disease, with
95% protection.
2. Recommended for all children by 3 doses—at birth, 1-2 months, and 6-18 months, and adults who miss it.
3. If patient was exposed to HBV (by needle puncture, etc.) and received no vaccination before, the patient needs
HBIG plus an HBV vaccine within 24 hrs, followed by another two vaccines in a few months.
4. If patient has a history of exposure to HBV or previous response—with HbsAb (+) in 9 yrs [even with HbsAg
(+)], then the patient only needs reassurance.
5. If patient was exposed to HBV and no response to previous vaccinations, then the patient needs HBIG in 24 hrs.
6. If a pregnant patient has HbsAg (+) and HbeAg (+), the infection risk is 95%. The newborn needs HBIG within
12 hrs and the vaccination shortly after delivery, and the patient needs the first HBV vaccination within 24 hrs,
followed by another two vaccinations later. Combined immunization not only blocks mother-infant spreading, but
also enables the mother’s breast-feeding with HbsAg (+).
Hepatitis C (HC)
HCV is spread predominantly by blood products, is the #1 cause of hepatitis among patients with IV drug abuse
(IVDA) and blood transfusion, and accounts for 60% of all hepatitis. Sexual transmission is much lower than
with HB (less than 5%). Perinatal transmission is 5%. Needle-stick transmission is 5-10%. Incubation is 2 weeks to
6 months and mostly “silent”, asymptomatic, or with mild symptoms. HCV is rarely acute and it alone rarely
leads to severe hepatitis or hepatic failure, which is mostly caused by combined HBV infection. Anti-HCV IgM is
not protective in the acute phase. Over 80% of acute HC progresses into chronic hepatitis and is a major cause
of cirrhosis (20%) and partial cause of liver cancer.
Mnemonic: HC = “4C features”: “Chronic, Cirrhosis, Carcinoma, and Cryoglobulinemia”.
PEARLS: Hepatitis C-associated extra-hepatic diseases
Mixed cryoglobulinemia, polyarteritis nodosa, Sjogren syndrome, Hashimoto thyroiditis, membrane
glomerulonephritis, membranoproliferative glomerulonephritis, ITP, B-cell lymphoma, and plasmacytoma.
Essentials of diagnosis
1. Only 25% of cases have above mild symptoms.
2. Lab tests: Elevated LFTs. Anti-HCV is usually (+) and indicative of HCV infection, but not protective. Anti-
HCV (-) does not rule out infection because this antibody is sometimes not detectable until months after infection.
HCV RNA load by PCR is the most sensitive and best diagnostic test, usually detectable 1-2 weeks after infection.
C4 is decreased.
Treatment
1. Most patients are “silent” without symptoms or abnormal LFTs, and thus need no treatment. Follow-up for
LFTs is recommended.
2. Symptomatic chronic HC: Long-term direct acting antagonists (DAAs) have been replacing interferon and
ribavirin (due to adverse effects) as the new effective treatment of six genotypes of HC. There are four classes of
DAAs.
(1) Nonstructural proteins 3/4A (NS3/4A) protease inhibitors (PIs): Telaprevir and boceprevir, alone or in
conjunction with peginterferon and ribavirin for genotype 1 HC. Grazoprevir is newer and more potent, usually in
combination with the NS5A inhibitor elbasvir.
(2) NS5B nucleoside polymerase inhibitors (NPIs): Sofosbuvir—high potency across all six genotypes, a very high
barrier to resistance.
(3) NS5B non-nucleoside polymerase inhibitors (NNPIs): Dasabuvir—less potent and has a lower threshold for
resistance.
(4) NS5A inhibitors: Ledipasvir, ombitasvir, and elbasvir.
If not effective, recommended combinations include elbasvir-grazoprevir, ledipasvir-sofosbuvir, or ombitasvir-
paritaprevir-ritonavir. Treatment can decrease the risk of developing chronic infection and cirrhosis. An HCV
vaccine is still under development. Preventive principles are similar to HB.
Hepatitis D (HD)
HDV infects either simultaneously with HBV or as a superinfection with chronic hepatitis B (more severe). HDV is
a defective virus, which requires HBV to supply HbsAg for replication. Thus, HDV cannot infect without HBV and
the infection carries the highest risk for fulminant hepatitis. HD with HB is predominantly seen in patients exposed
to blood products (transfusion, IVDA, etc.). Anti-HBs Ab (+) is protective for both hepatitis B and D. Mnemonic:
“DDV” feature—“Defective & Dependent Virus.”
Essentials of diagnosis
1. An asymptomatic HBV carrier suddenly presents with severe symptoms of acute hepatitis; or chronic HB
worsens abruptly to hepatic failure. Then HBV combined with HDV infection should be suspected.
2. Lab tests: Elevated LFTs; positive serum or liver HDAg or HDV-RNA (indicating superinfection), or positive
serum anti-HDV IgM or IgG (high titers) confirm the diagnosis. Anti-HDV may not be present in acute phase, and
thus negative result does not rule out infection (repeating is needed). Liver biopsy showing advanced fibrosis
supports chronic HD.
Treatment and prophylaxis
There is no specific therapy for acute HD. Same treatment and prophylaxis as for HB may be tried. Foscarnet as an
inhibitor of viral DNA polymerases is under encouraging clinical trial for fulminant HD.
Hepatitis E (HE)
HE is caused by HEV, which has 4 genotypes and 1 serum type. It can be a co-infected disease among humans and
animals. It’s similar to HA, with fecal or oral transmission, no chronic form, and usually self-limited, but it can
cause fulminant hepatitis in pregnant patients (20%) with a high mortality. Mnemonic: “Enteric-Fulminant-
Maternal”—“EF-Mom.”
Essentials of diagnosis
1. Most patients have similar symptoms as with HA. It’s more severe with pregnant patients.
2. Lab tests: Elevated LFTs; serum anti-HEV IgM or/and IgG (+), or/and HEV-RNA (+).
Treatment
Same as for HA—mostly resolves over a few weeks and only supportive care is needed. Prevention with sanitary
procedures is recommended
UROGENITAL INFECTIONS AND SEXUALLY TRANSMITTED DISEASES
(STD)
UROGENITAL INFECTIONS
Lower Urinary Tract Infections (Lower UTI)
It’s an infection and inflammation of the urethra (urethritis) or urinary bladder (cystitis, more common). It can
be gonococcal and non-gonococcal.
E. coli is still the most common pathogen, usually associated with sexual activities in women (more common) and
prostate hyperplasia in man. Among patients with multiple sexual partners, Chlamydia or/and Gonococcus is
most common. Other pathogens include Staph-spp., Klebsiella, Proteus, Enterococcus, Mycoplasma, Trichomonas,
and HSV. Other risk factors include pregnancy, indwelling urinary catheters, history of UTI, diabetes, and
immunocompromised state.
Essentials of diagnosis
1. Irritative voiding symptoms—dysuria, urgency, and frequency in urination. Purulent urethral discharge is usually
seen with Gonococcus and mucus discharge with Chlamydia. Fever is typically absent. P/E may show suprapubic
tenderness. Diagnosis of E. coli UTI is by clinical impression.
2. Urine dipstick: Nitride (+) indicates Enterobacter (+). Esterase (+) indicates polyleukocytes. RBC may be seen in
cystitis.
3. Urine Gram stain showing > 105 organisms/mL indicates significant bacteriuria, with 90% sensitivity. With
gonorrhea, secretion smear can show the Gram-, bean-shaped diplococci inside cells. Culture is the most specific
test for gonorrhea.
4. For Chlamydia, the new specific methods of testing are polymerase chain reaction (PCR), ligase chain reaction
(LCR) on either a genital swab or a urine specimen. Other tests include fluorescent antibody (FA) examination of a
direct smear and Chlamydia culture. However, culture sensitivity is low, and thus negative result does not exclude
Chlamydia.
Differential diagnosis
Urethritis and cystitis: Both have dysuria and urinary frequency and burning, but cystitis does not give urethral
discharge.
Interstitial cystitis: (1) Pain with a full bladder or urinary urgency. (2) Submucosal petechiae or ulcers on
cystoscopic examination. (3) Diagnosis of exclusion.
Treatment
1. For most complicated urethritis and cystitis (by E. coli, etc.): Oral fluoroquinolone such as ciprofloxacin or
levofloxacin for 5 to 10 days is the best therapy. Levofloxacin, ceftriaxone, or ertapenem can be used for resistant
organisms.
2. For Gonococcus and Chlamydia: A single dose of ceftriaxone and azithromycin, or a single dose of
ceftriaxone IM along with 7-day doxycycline PO. Gonorrhea can also be treated with a single dose of ciprofloxacin
or cefixime PO.
3. Same treatment for cervicitis and epididymitis.
Pyelonephritis (Upper UTI)
It’s a diffuse pyogenic infection of the pelvis and parenchyma of the kidney. In adults, it usually ascends from lower
UTI and with similar pathogens (E. coli, Proteus, Pseudomonas, etc.). In children, it is mostly due to bladder-urinary
obstruction and recurrence. Recurrences and severe cases may lead to renal scarring, chronic pyelonephritis,
emphysematous pyelonephritis, and sepsis (about 10%).
Essentials of diagnosis
1. Fever, chill, nausea, vomiting, flank pain plus “irritative voiding symptoms”
2. P/E demonstrates tenderness on the infected renal site (costovertebral angle).
3. Lab tests: Pyuria; urine dipstick—nitride and esterase (+), WBC cast in urine; RBC may be seen with cystitis.
CBC: increased WBC with left shift. Urine cultures: obtain in all suspected cases. Blood cultures: obtain in ill-
appearing and hospitalized patients.
Treatment
1. Hospitalize patient and take urine or/and blood for bacterial culture and sensitivity (C/S) for suspected cases and
potential sepsis).
2. Empiric therapies: (1) Mild to moderate cases: ceftriaxone, ciprofloxacin or cefepime IV for 7-14 days. (2)
Severe cases with immunosuppression: ampicillin-sulbactam or ticarcillin-clavulanate or imipenem IV. If no
effect in 3 days after changing to proper antibiotics, perform renal ultrasonography or CT/MRI for possible
obstruction, abscess, or mass. Treat recurrent cases with antibiotics up to 6 weeks. Repeat urine culture 2-4 days
after cessation of antibiotics.
Prostatitis
Bacterial Prostatitis
It is usually caused by the same Gram- organisms found in UTIs (E. coli, etc.) in older men. In young patients with
risky sexual behaviour, Gonococcus and/or Chlamydia are more frequent.
Clinical features, diagnosis, and treatment
1. Acute: (1) High fever, chill, low back pain, irritative voiding symptoms, and perineal discomfort.
(2) P/E: Digital rectal exam (DRE) reveals prostate swelling, warmth, tenderness, and induration; urethral discharge
is (-). Massage is forbidden for acute infection to avoid spreading to sepsis.
(3) Lab tests: Urinalysis shows numerous WBCs; urine culture is mostly (+).
Treatment: (1) Hospitalized and monitor for sepsis if with urinary obstruction. (2) TMP-SMX or ciprofloxacin (4-
6 weeks): with good prostate penetration; if sepsis is suspected, IV ampicillin and gentamycin.
2. Chronic: (1) History of recurrent UTIs with the same organisms; low back pain, testicle pain (epididymitis),
irritable voiding symptoms; usually no fever, or tender or inflamed prostate. (2) Lab tests: Three sets of urine
culture for chronic disease (may be positive for bacterial prostatitis or negative for nonbacterial prostatitis). Prostate
secretion by massage gives much higher yields of bacteria than the urine samples.
Treatment: Ciprofloxacin (for > 6 weeks) is the best therapy. Recurrences are common.
1. Acute STD by H. ducreyi (Gram- bacillus). 2. Irregular, deep, painful genital papules or ulcerations (about 1cm), and inguinal LN
suppuration, with bad odor. Dx: Clinical impression plus smear Gram stain; difficult to culture. Tx: Any of azithromycin (1dose),
ceftriaxone (1dose), erythromycin (7 days), or ciprofloxacin (3 days).
Genital Herpes (Image 29)
1. By HSV-2. 2. Red, painful, itching vesicles with circular, scarring ulcers on the genital/perineal areas; enlarged inguinal LN can
occur. Dx: Tzanck test and culture. Tx: Acyclovir, famciclovir, or valacyclovir. It can relapse with repeated sexual contacts.
Granuloma Inguinale (Donovanosis)
1. Granulomatis caused by Klebsiella. 2. Raised, red, painless papules, with granular ulcerations on the genital or perineum areas;
resembles condyloma lata or cancer. Dx: Clinical exam with smear/biopsy, or Giemsa/Wright stain (Donovan bodies). Tx: Doxycycline
for 3 weeks.
Lymphogranuloma Venereum
1. By Chlamydia trachomatis. 2. Transient, painless, nonindurated, shallow ulcers. 3. Unilateral enlargement of tender inguinal LN;
development of multiple purulent draining sinuses, buboes, and scars (“Groove sign”). 4. Fever, dysuria, pelvic/joint pains, and
headaches may occur. Dx: Clinical features and fluorescent Ab stain for Chlamydia. Tx: Doxycycline, TMP-SMX, or erythromycin.
Acquired Immunodeficiency Syndrome (AIDS)
AIDS is an acquired immune deficiency syndrome caused by the human immunodeficiency virus (HIV). HIV is a
retrovirus that particularly targets and destroys CD4+ T-cells, with a subtype HIV-1 (more common globally)
and HIV-2 (endemic in West Africa). HIV can be latent for many years and replicates rapidly, progressively
decreases the number of CD4 cells, destroys cell-mediated immunity, and increases the risk of developing dangerous
opportunistic infections. HIV does not harm patients directly.
Causes and risk factors
IV drug abuse (IVDA) and unprotected sexual intercourse carry the highest risk of developing AIDS. The risk
is 1/100 for each receptive anal intercourse, 1/1000 for vaginal and oral receptive intercourse, and 1/3000-10000 for
insertive vaginal intercourse. Other risk factors include blood transfusion, needle sticks (1/300 risk), maternal HIV
infection (30% risk without medication), etc.
There is usually a 10-year lag between catching HIV and developing initial symptoms, the time for a normal CD4
level (>700/uL) to the sick level of 200/uL or lower with rapid viral replication.
PEARLS: Monitoring of the immune system changes
1. CD4 T-cell count: It indicates the degree of immunosuppression, and is the most accurate method of determining
what infections or other diseases the patient is risky for, when to start prophylaxis and treatment, and how to adjust
them. Without treatment, the CD4 T-cell count drops 50-75 cells per year. CD4 > 700/uL is considered normal. HIV
(+) with CD4 < 200/uL or cervical cancer can be diagnosed as AIDS.
2. Viral load testing (RT-PCR RNA level): It is used to (1) diagnose HIV as a sensitive and specific method
(especially in babies and patients with undetermined immunoassay); (2) guide antiretroviral therapies, measure
response to therapy, and determine the rate of disease progression.
Essentials of diagnosis
1. With the above risk factors for months to years, followed by recurrent viral or fungal infections, ill-defined
febrile illness, flu-like symptoms (fever, malaise, rash, lymph node swelling), night sweats, weight loss, and
cachexia.
2. Lab tests—important!
(1) HIV screening for risky people—Third generation EIA or ELISA (enzyme immunoassay) tests detect the
presence of HIV-1 or/and HIV-2 antibody as early as three weeks after exposure to the virus. If it’s positive, 1-2
times of Western blot (WB) testing is required for confirmation of HIV-1 or/and HIV-2 Ab (IgG Ab to HIV-1 1-2
months after infection). EIA/ELISA has a high sensitivity but moderate specificity for HIV, whereas WB has the
highest specificity but moderate sensitivity. A negative EIA/ELISA cannot exclude HIV infection and requires the
“fourth generation HIV tests”.
(2) Fourth generation HIV tests—The combination antigen-antibody immunoassay is better able to identify
acute or early HIV-1/ HIV-2 infection (defined as 6-month period following HIV acquisition), compared with
antibody-only (EIA) tests, since they can detect HIV p24 antigen earlier than the antibody. If it is positive, an HIV-
1/HIV-2 antibody differentiation immunoassay is performed for confirmation. If the combo-test is negative,
the person is considered HIV-negative and no further testing is needed for most patients in whom acute or early HIV
infection is unlikely. However, in patients with a negative combo-test but suspected of having acute or early HIV
infection, the viral load testing should be performed.
(3) Viral load testing: A recent HIV load test is considered more sensitive and specificity than EIA/ELISA.
Acute or early HIV infection is diagnosed by a negative immunoassay in the presence of a positive virologic test.
However, a viral RNA level <10,000 copies/mL in a patient with a negative serologic test may represent a false
positive viral test, as patients with acute or early HIV infection typically have very high levels of viremia. Then the
HIV load test should be immediately repeated on a new blood specimen. A second positive viral load test suggests
HIV infection, which can be confirmed by a repeat serologic test several weeks later.
If both the immunoassay and virologic test are negative, it strongly suggests that HIV infection has not been
acquired.
PEARLS: Evaluation recommended for HIV (+) persons
1. Detailed history and physical examination!
2. Routine chemistry and hematology tests.
3. CD4 lymphocyte count and two plasma RNA tests for HIV load.
4. Screen for syphilis (VDRL/RPR) and PPD test. Syphilis (+) patients with AIDS risk factors should take screening
HIV-ELISA. If PPD is (+) (induration > 5 mm), it’s treated with INH for 9 months.
5. Anti-toxoplasma titer test.
6. Hepatitis tests: HAV and HBV serology tests; if (-), vaccination is given. If HAV or HBV antigen
is already (+), vaccination is not needed. If both HBV and HCV tests are (+), only HAV vaccine is given.
7. Pneumococcal vaccine (unless CD4 < 200/uL) is given to all HIV (+) children and adults; boosting per 5 years.
8. Mini mental status exam (MMSE).
9. HIV counselling to possibly infected people.
Differential diagnosis
Mononucleosis (due to EBV or CMV), toxoplasmosis, rubella, syphilis, viral hepatitis, disseminated gonococcal
infection, and other viral infections.
Treatment
1. Drug resistance testing: For all patients with early HIV infection, drug resistance testing should be performed
after the initial diagnosis has been established, regardless of whether treatment is being considered.
2. Most patients: Start antiviral treatment when CD4 < 500/uL with symptoms; for asymptomatic patient, when
CD4 < 350/uL, viral load > 55 x 103/uL, or opportunistic infection occurs. Medications: Two nucleosides plus a
protease inhibitor (Inh). The best initial combination is Atripla (emtricitabine-tenofovir-efavirenz) or alafenamide-
emtricitabine-dolutegravir. Goal: Viral load < 400/uL.
New anti-HIV medicines (mostly against HIV-1):
(1) Nucleoside reverse transcriptase inhibitors (NRTIs): Tenofovir (TDF), abacavir, lamivudine (3TC),
emtricitabine, zidovudine, didanosine (DDI), etc. Adverse effects include neurologic and pancreatic toxicity, and
diabetes insipidus.
(2) Non-nucleoside reverse transcriptase inhibitors (NNRTIs): Efavirenz (EFV), etc. Adverse effects include
CNS toxicity, rash, hyperlipidemia, and elevated hepatic transaminases.
(3) Protease inhibitors (PIs): Lopinavir, darunavir, atazanavir, etc, typically administered with an NRTI
combination, not alone. Adverse effects include GI, liver, and kidney toxicity.
(4) Fusion inhibitor: Enfuvirtide (T-20), not effective on HIV-2.
(5) Chemokine coreceptor 5 (CCR5) antagonist: Maraviroc (MVC).
(6) Integrase inhibitors: Raltegravir, elvitegravir and dolutegravir are new drugs with potent anti-HIV-2 activity.
3. Pregnant patients
All children at birth will carry the maternal HIV antibody and have ELISA (+) testing, but only 25-30% will remain
truly infected. Pregnant females with low CD4 or high viral load should be treated fully for their HIV as above.
Cesarean delivery for HIV (+) mothers is performed to prevent transmission of the virus if the CD4 is < 350/uL or
the viral load is > 1000/uL. Obtain best control of HIV with medications by the time of parturition.
4. Post-exposure prophylaxis
Indications: All persons with direct exposure to the blood or body fluids of HIV (+) patients.
Preventive drugs: zidovudine with and without other three combo-drugs for 4 weeks. Statistic data show that
zidovudine alone can decrease the risk by 80%.
Vaccinations: All HIV (+) patients should take vaccines for Pneumococcus, Influenza, and HBV.
OPPORTUNISTIC INFECTIONS (OIs)
OIs are infections that occur more frequently and are more severe in individuals with weakened immune systems
(immunodeficiency or immunosuppression), including people with HIV.
Clinical features, diagnosis, and treatment of important OIs are summarized below (Table 1-9)
It’s a severe infectious complication of wounds caused by neurotoxins of Clostridium tetani, a Gram+ anaerobic
rod with spore. It usually takes 1-7 days to develop. The neurotoxin is an exotoxin, which can block inhibitory
transmitters at the neuromuscular junction and cause extensive muscle spasms.
Essentials of diagnosis
1. History of a deep, dirty wound 1-7 days ago, followed by tonic spasms of voluntary muscles --first by masseter
muscles causing typical “trismus or lockjaw”, then stiff neck, arm flexion, leg/foot extension, dysphagia,
headache, irritability, and eventual respiratory arrest. It carries a high mortality rate.
2. Early diagnosis by clinical experience and immediate treatment are crucial to save life. Wound cultures can be
obtained but may not be a reliable means of diagnosis.
Treatment
1. Immediate admit patient to the ICU and provide possible airway and respiratory support. Recommended therapies
include IV specific antitoxin IG (to neutralize the unbound tetanus toxin), large doses of PCN (10-14 days) or
metronidazole (7-10 days) against C. tetani, control of muscle spasms with neuromuscular blocking agents, and
thorough wound debridement to eradicate spores and necrotic tissue.
2. Prophylaxis: (1) Tetanus toxoid plus IV IG for patients with any suspected dirty wound beyond 5 years of
vaccination. (2) DTaP is recommended at birth, 2 mo, 4 mo, 6 mo, 15-18 mo, and 4-6 y/a. Tetanus toxoid should be
boosted per 10 years.
ARTHROPOD-BORNE AND ZOONOTIC INFECTIONS
Lyme Disease
It is an arthropod-borne infection spread by spirochete Borrelia burgdorferi from a small (deer) tick bite (Ixodes
scapularis, usually in summer), endemic to the Northeast and Midwest of the US. It’s characterized by a fever and
a rash, and can recur as arthritis, cardiac disease, or neurological disease if untreated. “Post-Lyme disease
syndrome” refers to the nonspecific symptoms (such as headache, fatigue, and arthralgias) that may persist for
months after treatment of Lyme disease.
Essentials of diagnosis
There are three stages:
1. Early localized infection—erythema chronicum migrans (Image 35): Circular and expanding, begins 3-30
days after the tick bite; the rash usually resolves in a few weeks without treatment.
2. Early disseminated infection: 50% of patients have flu-like symptoms, enlarged LN, migratory joint pain,
meningitis, encephalitis, cranial neuritis (often bilateral facial nerve palsy), and cardiac lesion (A-V block,
myocarditis, pericarditis).
3. Late persistent infection: Arthritis, chronic polyneuropathy (shooting pains, numbness) or encephalomyelitis
(memory, mood changes, psychosis), acrodermatitis chronica atrophicans (rare), etc.
4. Lab tests: Typical rash with a fever may not need confirmatory testing. ELISA for IgM and IgG followed by a
Western Blot (confirmation) is the standard diagnostic method. A (-) result does not necessarily rule out recent
infection. Receiving blood transfusion in recent months may cause false (+).
Treatment
1. Asymptomatic cases may not need treatment, or only need a prophylactic dose of doxycycline with special
concerns (e.g. a clear tick bite, endemic area). Limited Lyme disease is treated with oral doxycycline or amoxicillin
(with pregnancy).
2. Severe cases and complications (with neurological manifestations, 3rd-grade heart block, arthritis, myocarditis, or
encephalitis) are treated with IV ceftriaxone for at least 30 days.
Rocky Mountain Spotted Fever (RMSF)
It’s a small-vessel vasculitis caused by R. rickettsii transmitted by the dog/wood tick. It is usually in summer and
endemic to the Mideast to Midwest of the US.
Essentials of diagnosis
1. Typical triad—abrupt fever, headache, and rash (from hands or feet spreading centripetally). Initial diagnosis
can be made based on this typical triad in an epidemic area.
2. Other symptoms include confusion, lethargy, dizziness, irritability, neck stiffness, and GI upset. Patient may die
of a severe complication such as heart failure (from myocarditis), pulmonary edema, or CNS hemorrhage or edema.
3. Lab tests: Thrombocytopenia, hypo-Na, and elevated LFTs are common. Direct immuno-fluorescence testing or
immunoperoxidase staining for R. rickettsiae in skin biopsy makes a timely diagnosis. Indirect fluorescent antibody
(IFA) testing makes a retrospective, specific diagnosis, usually at the 2nd week.
Treatment
1. Oral doxycycline is given for 7 days or more than 3 days after defervescence. Administer by IV route if vomiting
is present.
2. Chloramphenicol is given for patients with CNS complications or pregnancy.
Malaria
It’s a protozoal disease caused by four strains of the genus Plasmodium (P. falciparum, P. vivax, P. ovale, and P.
malaria), and transmitted by a female Anopheles mosquito. Among the four strains, P. falciparum has the highest
morbidity and mortality. Although malaria has been largely eliminated in North America and Europe, it’s still
endemic in certain areas in Africa and Asia. Thus, chemoprophylaxis and mosquito protection should be used for
travellers to the endemic areas.
Essentials of diagnosis
1. History of exposure in an endemic area, with typical periodic attacks of sequential chills, high fever (> 41oC),
and sweating over 4-5 hours. Other symptoms include headache, dizziness, malaise, GI upset, myalgias, and
arthralgia. Some symptoms may recur every 2-3 days.
2. P/E usually finds splenomegaly, rash, and LN swelling 4-5 days after symptoms. If CNS is infected, confusion,
neck stiffness, and neurologic signs may be found.
3. Lab tests: CBC mostly reveals hemolysis-like anemia with reticulocytosis, and low to normal WBC.
Giemsa/Wright-stained blood films (thick and thin) are sent for specific diagnosis by experts. Specimens are
collected at 8-hr intervals for 3d, and during and between febrile periods.
Treatment
1. Uncomplicated cases are treated with oral chloroquine or mefloquine. If chloroquine/mefloquine resistance is
suspected as in many countries, artemether + lumefantrine/amodiaquine or quinine plus tetracycline can be used.
2. P. vivax and P. ovale strains are usually resistant to chloroquine, and thus primaquine is added to eradicate the
hypnozoites in the liver.
3. Severe, complicated cases or P. falciparum infection are treated by rectal and IV artesunate or IV quinine
(with more S/E), followed by doxycycline. Symptomatic and supportive therapies are also important. For a pregnant
patient, doxycycline is replaced by clindamycin.
4. Prophylaxis is recommended to travellers to endemic regions. Atovaquone-proguanil or mefloquine is the agent of
choice because it also covers chloroquine-resistant cases.
Complications
Cerebral malaria, severe hemolytic anemia (mostly by P. falciparum), acute tubular necrosis and renal failure
(“Blackwater fever”), pulmonary edema, bacteremia, and DIC.
Rabies
It is a rare devastating, deadly viral encephalitis caused by bites or scratches by infected animals (#1 is raccoon,
followed by bat or dog). Rabies is only occasionally found in developing countries where rabies vaccination of
animals is not widespread. The incubation period ranges from 30-90 days and varies. Once symptoms appear, it is
always fatal!
Essentials of diagnosis
1. History of a bite by a rabies-suspected animal followed by typical symptoms—sore throat, headache, nausea,
vomiting, fever; encephalitis (confusion, combativeness, hyperactivity, seizure); hydrophobia (inability to drink,
laryngeal spasm with drinking, hypersalivation—“foaming at mouth”); almost always progresses to coma and
death.
2. Lab diagnosis: (1) Virus isolated in infected tissue and saliva. (2) 4-fold increase in serum antibody titers. (3)
Negri bodies identified in histology. (4) PCR detection of virus RNA.
Treatment and prophylaxis
Rabies is an invariably fatal viral disease that can be prevented with proper wound care and postexposure
prophylaxis.
1. Clean the wound thoroughly with soap and be ready for life support care. Ketamine and midazolam may be
helpful in symptomatic control. Amantadine may be used for its potential antiviral activity.
2. For a known rabies exposure, both passive and active vaccinations should be given: passive—IV human rabies IG
to the patient; active—3 doses of antirabies vaccine IM over a 28-day period.
3. For a wild animal bite (raccoon, bat, or dog), the animal should be captured at best efforts and killed for
immunoassay of the brain.
4. For a home dog or cat bite in an endemic area, the animal should be captured and observed for 10 days. The
animal most likely does not have rabies if its conditions remain the same.
Other Arthropod-Borne and Zoonotic Diseases
2. A 55 y/o female presents with malaise, fever, and nausea for the past 2 days. She has been on chemotherapy for breast cancer for the
past 3 months. She denies headache, chill, cough, and bone pain. P/E finds T = 38.7oC, HR = 90/min; other results are unremarkable.
CBC reveals pancytopenia with WBC = 1,200/uL. Her CXR and urine analysis are normal. Blood and urine samples are taken for
pathogen cultures. The best next step of treatment (Tx) is
A. IV ceftazidime and vancomycin
B. IV cefepime and vancomycin
C. IV cefepime
D. IV gentamycin and vancomycin
E. IV piperacillin
F. IV amphotericin B
3. A 65 y/o man presents with an abrupt fever, headache, dry cough, diarrhea, and abdominal pain for the past 10 hours. He lives alone in
an old apartment with unsanitary conditions. P/E results are normal except for T = 38.5oC. CXR reveals bilateral infiltrates. WBC =
9,000/uL with left shift (increased ratio of immature neutrophils). There are no other abnormal findings. What’s the most likely cause?
A. H. influenza (Hib)
B. Mycoplasma
C. Legionella
D. Chlamydia
E. TB bacilli
4-5: 4. A 27 y/o female comes to the clinic one week after a trip to the Northeast (U.S.), and presents with mild fever, headache, and an
expanding rash on the right foot. P/E finds T = 38oC, stable vital signs, and a 3-cm circular, erythematous, nontender rash with central
clearing on the right foot. ECG reveals Io A-V block. There are no other abnormal findings except for a 3-month pregnancy. What’s the
most likely diagnosis?
A. Cellulitis
B. Rocky Mountain spotted fever (RMSF)
C. Lyme disease
D. Tularemia
E. “Cat-scratch disease”
5. For the above patient (in Q4) who wishes to stay home after an immediate therapy, the most appropriate antibiotic treatment is
A. oral azithromycin
B. oral doxycycline
C. oral amoxicillin
D. IV PCN
E. IV ceftriaxone
6-8: 6. A 60 y/o female is brought to the ER with fever, RUQ abdominal pain, and nausea and vomiting for the past 5 hours. P/E results:
T = 39.5oC, HR = 90/min, marked RUQ abdominal tenderness on palpation and rebound tenderness. CBC reveals WBC = 18 x 103/uL
with predominant neutrophils and bands. Ultrasound shows gallstones with dilated bile ducts and fluid. Her vital signs are stable. What’s
the best initial treatment?
A. Oral quinolones
B. IV quinolones
C. IV ceftazidime
D. IV ampicillin
E. Support and observation in hospital
7. Continued with Q6: The patient still has persistent symptoms after 5 hours of the appropriate antibiotic treatment. What’s the best next
step now?
A. Fluid and blood cultures
B. IV quinolones
C. IV cefepime
D. IV ampicillin
E. ERCP
8. Continued with Q6-7: For the above patient, the proper tests show mixed Gram- bacteria and anaerobes. At this time, the most
appropriate antibiotic to be included is
A. clindamycin
B. quinolones
C. gentamycin
D. ampicillin
E. metronidazole
9-10: 9. A 68 y/o man is brought to the ER for high fever, headache, nausea, vomiting, and confusion. He had a small dental surgery 3
days ago. P/E results: Unclear consciousness, T = 39.5oC, HR = 90/min, RR = 25/min, BP is normal; neck is stiff; Kernig’s sign is (+/-).
Sensation seems normal. Eye exam shows equal-sized, mildly dilated pupils and papilledema (by fundoscopy). Blood is taken for culture
and sensitivity test. What’s the most appropriate next step?
A. A head MRI scan
B. lumbar puncture for CSF assay and culture/sensitivity
C. A head CT scan
D. An empiric antibiotic
E. IV steroid
10. For the above patient, the most appropriate management has been done. Now the best medical treatment is intravenous administration
of
A. large-dose PCN
B. ceftazidime + vancomycin
C. ceftriaxone + vancomycin
D. cefotaxime + ampicillin
E. ceftriaxone + ampicillin + vancomycin
11. A 70 y/o man is brought to the ER for fever, headache, and confusion for the past 2 days. He lives alone with poor living conditions.
P/E results: Alert, T = 38oC, HR = 88/min, RR and BP are normal; neck is stiff; Kernig’s sign is (+/-). Eye examination is normal. CBC:
WBC = 15 x 103/uL, with 50% lymphocytes (LC). CSF: Opening pressure = 200 mmH2O, lymphocytes = 60%, neutrophils = 40%,
protein = 55 mg/dL, and glucose = 30 mg/dL. This patient most likely has
A. pneumococcal meningitis
B. viral meningitis
C. TB meningitis
D. TB encephalitis
E. viral encephalitis
F. fungal meningitis
12. A 16 y/o girl is brought to the ER for eye pain and blurred vision for a day. She uses contact lens daily and follows the sanitary
procedures most of the time. Eye exam shows a hazy cornea with central ulceration and adjacent stromal abscesses. Eye movement is
normal. What’s the most likely diagnosis?
A. Bacterial keratitis
B. Fungal keratitis
C. CMV retinitis
D. HSV retinitis
E. Orbital cellulitis
13. A 40 y/o man complains of (c/o) intermittent abdominal discomfort, decreased appetite, and 5 kg weight loss for the past 3 mo. He
has a history of smoking and alcohol drinking for 5 yrs, and two previous blood transfusions. P/E results are mostly normal. Ultrasound
(U/S) shows a normal liver image without any mass. Serology results: liver function tests (LFTs) are normal; HBsAg, HBeAg, and anti-
HBs, anti-HBc, and anti-HBe IgGs are all (+). What’s the best explanation?
A. Liver cell carcinoma
B. Chronic Hepatitis B, with low viral replication
C. Chronic Hepatitis B, with active viral replication
D. Recovery from Hepatitis B, with immunity
E. Chronic hepatitis B, with heterotypic Anti-HBs
14. A 25 y/o man suffered from a puncture wound of the right foot 3 days ago and now presents with fever and increased foot pain. P/E
shows a swollen wound on the right ankle with tenderness on palpation. T = 39 oC, HR = 90/min, RR = 26/min, BP = Nl. CBC shows
WBC = 15 x 103/uL, with predominant neutrophils and bands. ESR = 120. Tech 99 is scheduled and blood samples are taken for culture
and sensitivity test. What’s the best initial treatment?
A. Oxacillin
B. Vancomycin
C. Ceftriaxone
D. Cefotetan
E. Cefepime
15-16: 15. A 20 y/o sexually active man complains of 2-day’s sore throat, fever, swollen neck masses, and abdominal pain. He
developed a generalized skin rash after taking ampicillin. He reports having used allopurinol for gout before the onset of these
symptoms. P/E shows enlarged tonsils, cervical lymph nodes, and spleen, and a maculopapular rash all over the body. T = 39oC. Vital
signs are normal. More tests are scheduled. What’s the best explanation for his conditions?
A. Ampicillin allergy
B. Acute upper respiratory infection
C. Allopurinol allergy
D. Infectious mononucleosis
E. AIDS
F. Chlamydia infection
16. CBC for the above patient reports: hematocrits (HCT) = 44%, WBC = 8500/uL with many atypical cells, platelets = 85 x 103/uL.
Monospot test is (+). Apart from bed rest, what’s the most appropriate next treatment?
A. Acyclovir
B. Ganciclovir
C. Steroids
D. PCN-G
E. Early exercise
17. A 20 y/o sexually active female presents with lower abdominal pain, dysuria, and increased, purulent vaginal secretions but no odor.
She has no fever or other symptoms. Pelvic exam shows a red cervix with mucus, and cervical motion tenderness. Urinalysis (U/A)
shows WBC and protein. What’s the best next step?
A. Secretion test for chlamydia
B. Thayer-Martin for gonococcus
C. VDRL test for syphilis
D. KOH test for candida
E. Smear for Trichomonas
18. Continued from Q15: Fluorescent antibody test for chlamydia in Q15 has come out with (-), and Thayer-Martin for gonococcus is
(+). Given this, the best treatment now is:
A. A single dose of ceftriaxone and azithromycin
B. A single dose of ceftriaxone
C. A single dose of ceftriaxone and doxycycline
D. Cefoxitin IV + azithromycin PO
E. Ampicillin + gentamycin + metronidazole + clindamycin for 5 days
19. A 17 y/o girl presents with 3-day’s fever, headache, dry cough, and weakness. P/E is normal except for T = 38.5oC. Her urine
dipstick testing reveals protein (++) but no bacteria, RBC or WBC. What’s the best next step?
A. Serum BUN level testing
B. 24-hour collection of urinary protein
C. Urine culture for pathogens
D. Reassurance: “It’s common and benign.”
E. Repeating the dipstick test
20. A 60 y/o man presents with increased urinary frequency and urgency, and a sensation of suprapubic fullness but difficulties in
voiding for the past 3 days. P/E finds an enlarged urinary bladder and an indurated, enlarged prostate with tenderness. Urinalysis is
normal. Analysis for prostatic secretions reveals 18 WBCs/HPF (Normal reference is <10), but cultures for bacteria are (-). Other results
are unremarkable. A urinary catheter is inserted and 300 mL of urine is removed. What’s the most appropriate next step?
A. Repeating the secretion culture
B. Empirical TMP-SMX for E coli
C. Use of an alpha-R blocker
D. Testing of prostate specific antigen (PSA)
E. Fine needle aspiration (FNA) of the prostate
21. A 58 y/o man presents with fever, chills, right flank pain, and dysuria for the past 5 hours. He occasionally smokes and drinks
alcohol. P/E finds T = 38.5oC, HR = 110/min, and percussion tenderness over the right renal area. CBC shows WBC = 15 x 103/uL with
left shift. Urinalysis reveals WBC and protein. Urine is sent for culture and sensitivity test. He went home with prescribed oral
ciprofloxacin. He comes back 3 days later with T = 38.3oC. What’s the most appropriate next step?
A. Increase the dose of oral ciprofloxacin
B. IV ciprofloxacin
C. IV cefepime
D. IV ampicillin + gentamycin
E. Renal CT scan
22. In the same month, a 30 y/o man experiences his second onset of fever, chills, cough with sputum, and chest pain. He has a history of
risky sexual behavior with both males and females for “several years.” P/E shows T = 39oC, HR = 110/min, and diffuse rales in the
lungs. CXR reveals multiple lobar infiltrates. CBC shows WBC = 1200/uL and CD4 = 200/uL. Blood and sputum are taken for
examination of pathogens. What’s the best initial treatment?
A. Azithromycin or erythromycin
B. Levofloxacin + erythromycin
C. Cefotaxime + imipenem
D. TMP-SMX
E. Ceftazidime + TMP-SMX
23-26: Match the following clinical scenarios with the most likely diagnosis.
A. Bacterial meningitis
B. Subacute sclerosing panencephalitis
C. Viral meningitis
D. AIDS encephalopathy
E. PML
F. Herpes encephalitis
G. CNS abscess
H. Malaria
I. Fulminant viral encephalitis
J. Fulminant hepatitis
23. A 25 y/o man is hospitalized for decreased memory and changes in mood for the past 3 weeks, with occasional right arm clonus. He
had a history of fever and headache one month ago, but no trauma. P/E results: T = 39oC, alert. Neurologic exams: decreased recent
memory, speech difficulties, and right hemiparesis. Lab tests: increased WBC and LC ratio. CSF: Opening pressure = 220 mmH2O, LC
= 60%, neutrophils = 40%; culture is (-). EEG: Spike-and-wave discharges originating from the temporal lobe.
24. A 25 y/o man is hospitalized for a chronic bleeding disease and progressive memory loss. Severely low platelet counts have forced
him to receive four times of urgent blood transfusions in a poorly equipped hospital over the past 5 years. Neurologic exams reveal poor
recent and remote memory, decreased vision, gait ataxia, limb hyper-reflexia, and changes in mood and personality. T = 38.5oC. Head
MRI is unremarkable.
25. A 25 y/o man is hospitalized for 1-month history of headache, fever, right arm clonus, memory loss, and changes in mood. He has
been HIV (+) for the past 5 months. Neurological exams show decreased recent memory, speech difficulties, and right hemiparesis.
T=39oC, CSF-P = 220 mmH2O; culture is (-). CT with contrast reveals a mass in the left temporal lobe.
26. A 45 y/o man is back from a trip to the countryside with malaise, headache, confusion, periodic high fever, chills, and sweating for
the past 3 days. P/E reveals T = 41oC, confused status, neck and limb stiffness, generalized rash and LN swellings, and
hepatosplenomegaly. CBC reveals anemia, leukopenia, and reticulocytosis. Blood samples are taken for special tests.
27. Diagnosis of pathogen for the above patient in Question 23 is confirmed by immunoassay of the CSF. IV acyclovir was administered
for the past 3 days and re-examination of the patient shows no changes in his conditions. What’s the most appropriate next step now?
A. Increase the dose of acyclovir
B. Change to ceftriaxone
C. Change to foscarnet
D. Change to famciclovir
E. Change to amphotericin B
28. A 65 y/o man has been undergoing 2-week’s chemotherapy for lymphoma. P/E finds T = 39oC and other results are (-). CBC shows
WBC = 500/uL without bands. The most appropriate next step is to
A. wait for the results of blood culture and sensitivity test to give the correct antibiotics
B. give oral agents to prevent bacterial and fungal infections
C. give IV agents to prevent bacterial and fungal infections
D. give broad-spectrum antibiotics to cover Gram- bacteria, Pseudomonas, and Staph-aureus
E. take blood samples for culture and sensitivity test
29. A 25 y/o female working in a day care center develops a pruritic rash in crops over her whole body except the palms and soles, with
fever, headache, cough, and dyspnea for the past 3 days. She claims that she has received all of the appropriate pediatric immunizations.
P/E finds T = 39oC, generalized small vesicles on an erythematous base with crusting, and rales over the lungs. CBC is awaited. This
patient most likely
A. has about normal CXR result
B. will infect her husband soon
C. has leukocytosis
D. will have life-time immunity after recovery
E. has missed a vaccine in the childhood
30. A 15 y/o girl has just returned from a spring camping trip and presents with irritating red eyes and copious watery discharge from the
eyes and nose. P/E reveals a mild fever, tachycardia, and congested conjunctiva and nasal membranes. There are no other abnormal
findings. The most likely cause is
A. allergy
B. bacterium
C. chlamydia
D. virus
E. foreign body
31. A 16 y/o boy has just returned from a spring camping trip and presents with painful red eyes with copious watery discharge. P/E
reveals a mild fever, tachycardia, and congested conjunctiva. Fundoscopy shows retinal pallor and ulceration. There are no other
abnormal findings. The most likely etiology is
A. CMV
B. HSV
C. chlamydia
D. candida
E. allergy
32. A 25 y/o man presents with headache and a painful swelling localized to the left eyelid with tenderness, which is not associated with
eye movement. There is no conjunctival congestion or discharge, nor other abnormal findings. He claims he has “two girl-friends.” The
most likely diagnosis is
A. orbital cellulitis
B. post-orbital cellulitis
C. dacryocystitis
D. hordeolum
E. chalazion
33. A 45 y/o man presents with fever, abdominal pain, nausea, and loose stools of yellowish color for the past 3 days, beginning after he
eat a large meal with friends. None of his friends has similar symptoms. He has a 5-year history of smoking, alcohol consumption, and
decreased weight. P/E finds a moderate fever and a firm and distended abdomen with decreased bowel sounds, tenderness on deep
palpation, and with rebound tenderness. Ascites is (+) and the spleen is enlarged. What’s the most important next test to determine the
etiology?
A. Abdominal ultrasound
B. CBC
C. Ascites analysis
D. Abdominal CT
E. Stool analysis
34. A 25 y/o female presents with fatigue, decreased appetite, nausea, and yellow urine for the past week. Her LMP was 4 weeks ago.
P/E finds normal vital signs, jaundice, flat and soft abdomen, and an enlarged liver. Serum ALT and bilirubin are elevated; beta-hCG is (-
); anti-HAV IgM and HBsAg are (-); anti-HAV IgG, anti-HBc IgM, and HBeAg are all (+). What’s the most likely diagnosis?
A. Acute hepatitis A with HBV carrier
B. Acute hepatitis B with HAV immunity
C. Acute hepatitis A and B
D. Acute hepatitis B with HAV carrier
E. HBV carrier with HAV immunity
35. A 40 y/o man presents with low-grade fever, sweats, coughs with blood-tinged sputum, right chest pain, and decreased weight for the
past month. He has a history of smoking and alcohol use for the past 5 years. P/E finds T = 38oC, normal vital signs, decreased
respiratory sounds, and dullness on percussion of the right lower chest. CBC reveals anemia and increased WBC and LC percentage.
CXR shows diffuse infiltrates in the right lower lung. The most appropriate next test for diagnosis is
A. serologic tests
B. chest CT
C. sputum culture
D. PPD test
E. sputum stain for acid fast bacilli
36-41: Match the following clinical scenarios with the most likely etiology.
A. Calymmatobacterium or Donovania
B. H. ducreyi
C. Chlamydia
D. HSV
E. HPV
F. Poxvirus
G. Candida
H. T. pallidum
I. Gonococcus
J. Allergy
36. A sexually active female presents with multiple soft, fast growing, pedunculated, and pink papules of 3-4 mm in size on the vulva for
the past week. There are no other abnormal findings.
37. A sexually active female presents with multiple red, painful, and itchy vesicles with circular, scarring ulcers on the vulva for the past
2 weeks. Tissue is taken for Tzanck test and culture.
38. A sexually active female presents with a week of multiple painless, shallow, circular ulcers on the vulva, with low-grade fever,
dysuria, tender swelling of the left inguinal lymph nodes, and a purulent draining sinus. A sample from the ulcer is taken for smear stain
and fluorescent tests.
39. A sexually active female presents with a week of multiple painful, irregular, deep papules and ulcers on the vulva with a bad odor,
and inguinal lymph node suppuration on the left side. There are no other abnormal findings. A sample from the ulcer is taken for a Gram
stain.
40. A sexually active female presents with a week of multiple raised, red, painless papules (0.5-1cm) with granulomatous ulcers on the
vulva. There are no other abnormal findings. A sample from the ulcer is taken for a pathologic stain.
41. A sexually active man presents with low-grade fever, diffuse and symmetric pink papules, and painless lymph node swellings in both
inguinal areas. The patient reports finding a small painless smooth ulcer on his penis one month ago, which has now disappeared.
Specific serology confirms the diagnosis.
42. A 17 y/o girl is brought to the ER with fever, nausea, vomiting, dizziness, abdominal pain, knee pain, and weakness. She was
travelling in another city 5 days ago with her boyfriend and reveals that her last menstrual period (LMP) occurred during the trip. P/E
results: Alert, T = 39oC, HR = 95/min, BP = 90/55 mmHg; soft neck, desquamative rash on hands and feet, and tenderness on the middle
abdomen and both knees without swellings. IV fluid is started. Urine sample is taken for analysis and culture. The most appropriate next
step is
A. IV nafcillin
B. IV ceftriaxone
C. blood culture and sensitivity test
D. joint fluid aspiration
E. abdominal ultrasound
43. A 30 y/o female with several pets presents with fever, dry cough, chest pain, and shortness of breath for the past 3 days. P/E results:
Alert, T = 39oC, RR = 28/min, HR = 90/min, BP = Nl; rough respiratory sounds. WBC is 12,000/uL. CXR reveals interstitial infiltrates.
What’s the best initial treatment?
A. Erythromycin
B. Doxycycline
C. Levofloxacin
D. Azithromycin
E. Amoxicillin
44. A 60 y/o female presents with fever, headache, dry cough, and loss of appetite that began after attending a party 3 days ago. Two
other friends from the party also have similar symptoms. P/E shows T = 38.5oC and there are no other abnormal findings. What’s the
most appropriate next step?
A. Amantadine for 4-5 days
B. Oseltamivir for 4-5 days
C. Amoxicillin for 4-5 days
D. Annual flu vaccination
E. Blood culture and sensitivity test
45-50: Match the following clinical scenarios with the most likely cause.
A. Campylobacter jejuni
B. E. coli (O157:H7)
C. Staph-aureus
D. Shigella
E. Salmonella
F. Enterotoxigenic E. coli
G. Giardia
H. Bacillus cereus
I. Clostridium perfringens
J. Clostridium difficile
K. Clostridium botulinum
L. Vibrio parahaemolyticus
M. Yersinia enterocolitica
N. Proteus
O. Klebsiella
45. A 17 y/o boy has ingested a cup of leftover milk at home. Four hours later, he has severe lower abdominal cramps and loose stools
with sparse blood and mucus. There is no vomiting. P/E finds T = 38oC and mild tenderness in the mid-abdomen. Stool analysis reveals
WBC and RBC. CBC results are normal.
46. A 10 y/o boy has had a meal of reheated rice in a friend’s home. Two hours later, he has severe nausea, vomiting, and upper
abdominal cramps. He has one relatively loose stool during the day. P/E finds no fever or other abnormal results. Stool analysis and CBC
results are normal.
47. A 16 y/o boy joined a lunch with all kinds of foods (including seafood) in an unsanitary restaurant. In the evening he presents with
severe, recurrent lower abdominal cramps and loose stools with blood and mucus for a few hrs. He has nausea and sensation of urgently
passing stools. There is no vomiting. P/E finds T = 39oC and the lower abdomen is soft with tenderness. Stool analysis shows WBC and
RBC. CBC reveals leukocytosis.
48. A 15 y/o boy has had a lunch in an unsanitary restaurant. In the evening, he has abrupt profuse, watery diarrhea. There is no
vomiting, abdominal cramp, or fever. He’s been using amoxicillin for otitis media for the past 10 days. P/E results are unremarkable.
Stool toxin test is (+). CBC is normal.
49. A 17 y/o girl has joined a lunch in a restaurant and had fresh raw fish. In the evening, she has fever, nausea, severe lower abdominal
cramps, and diarrhea with blood and mucus. P/E finds T = 38.5oC and a soft abdomen with RLQ tenderness. Stool analysis reveals WBC
and RBC. CBC reveals leukocytosis.
50. A 20 y/o newly married female presents with urinary frequency, urgency, and burning sensation for a day. She denies any fever,
flank pain, or abnormal vaginal discharge. She also denies any history of UTI or STD. P/E results are about normal. Urine analysis
reveals WBC and alkalosis. CBC is normal.
51. A 22 y/o married female comes to the clinic for a general health exam, and found herself about 5-week pregnant confirmed by a (+)
blood hCG test. She took rubella immunization 6 weeks ago and has been using contraception to her best efforts because the physician
has advised her to avoid pregnancy within 3 months. She is generally healthy and asks about the choices to avoid harm to the fetus.
What’s your best next step of management?
A. Give advice on abortion
B. Give reassurance
C. Give IV immunoglobulin
D. Perform pelvic ultrasonography
E. Explain the risks and benefits of abortion and let the patient decide
52. A 30 y/o sexually active man presents with fever, fatigue, and skin rash for the past few days. He was HIV (+) two yrs ago but has
had no obvious symptoms until now. P/E shows T = 38.5oC, normal vital sign, and multiple non-tender, 1-1.5 cm, round, reddish,
vascular papules on both arms. What’s the most likely diagnosis?
A. Molluscum contagiosum (MC)
B. Common warts
C. Herpes simplex (HS)
D. Kaposi sarcoma (KS)
E. Bacillary angiomatosis
53. A 25 y/o female presents with painful, swollen left knee for the past 3 days. She cannot think of any significant events related to it.
She denies any abnormal urinary or vaginal discharges, or history of trauma, diseases or drug use. Careful history taking reveals that she
has several sexual partners and she uses condoms most of the times. P/E finds low fever, tachycardia, and a swollen left knee with
tenderness and limited range of motion. Arthrocentesis: WBC = 85 x 103/uL with 88% neutrophils. Gram staining of the joint aspirate is
(-). Urinalysis is normal. What’s the best next step for diagnosis?
A. Blood culture
B. Urine culture
C. Culture of the joint aspirate
D. Culture of the vaginal discharge
E. Culture of urethral swab
54. A 60 y/o man has been hospitalized for the treatment of diabetes for the past 2 weeks. He has a history of smoking and alcohol
drinking for 10 years. Today he presents with fever, cough with yellowish sputum, chest pain, tachypnea, and dyspnea. P/E results: T =
38.8oC, RR = 28/min, HR = 90/min, BP = Nl; respiratory rales are (+) in both lungs. CBC reveals HCT = 40%, WBC = 12 x 103/uL,
neutrophils = 88%. CXR shows multiple infiltrates in both lungs. Sputum is taken for Gram stain and culture. Which of the following is
NOT a common pathogen for this patient?
A. Pneumococcus
B. Staph-aureus
C. E. coli
D. Pseudomonas
E. Hib
F. Klebsiella
55. A 30 y/o man presents with malaise, general muscle pain, and decreased appetite for the past month. He has a 5-year history of
smoking, alcohol drinking, and IV drug abuse. P/E results are unremarkable. CBC reveals HCT = 38%, WBC = 6,000/uL, LC = 44%,
platelets = 100 x 103/uL. Anti-HCV is (+) and LFTs are normal. Test of HCV RNA load by PCR is started. Which of the following is
NOT commonly associated with the patient’s disease?
A. Mixed cryoglobulinemia
B. Polyarteritis nodosa
C. Sjogren syndrome
D. Hashimoto thyroiditis
E. Membrane glomerulonephropathy
F. ITP
G. Plasmacytoma
H. T-C lymphoma
56. In a pre-term exam, an asymptomatic pregnant patient has been found that the HBsAg, anti-HBe and anti-HBc IgGs are (+), and
HBeAg and anti-HBs IgG are (-). There are no other abnormal findings. For this patient’s conditions, all the following should be
administered immediately after delivery EXCEPT
A. IV HBIG to the newborn
B. HBV vaccine to the newborn
C. HBV vaccine to the mother
D. Ribavirin to the mother
E. Alpha-interferon to the mother
57. A 55 y/o man with immunodeficiency presents with malaise, fever, night sweats, and cough with yellow sputum over the past week.
He has been on antibiotic prophylaxis for the past 2 months. P/E results: Alert, T = 39oC, RR = 28/min, HR = 90/min, BP = Nl;
respiratory sounds are rough. CBC reveals HCT = 32%, WBC = 8,000/uL, neutrophils = 85%, LC = 9%. Skin PPD is 9 mm induration.
CXR shows left lobe cavitation. Sputum smear reveals weakly acid-fast filamentous branching rods. What’s the most likely cause of the
disease?
A. Actinomyces
B. Nocardia
C. TB
D. Coccidioides
E. Blastomyces
F. Histoplasma
58. A 10 y/o boy is brought to the clinic an hr after he was bitten by a neighbor’s dog due to his provocation. The dog did not get rabies
immunization and is not showing any abnormal symptoms. P/E finds a tender swollen lesion without bleeding on the left forearm. After
his wound is cleaned with iodine, what’s the most appropriate next step?
A. Observe the dog for 10 days
B. Kill the dog and perform the brain biopsy
C. Give the boy IV immunoglobulin
D. Give the boy active rabies immunization
E. Give the boy active and passive immunization
F. Give reassurance
59. During a fight at school, a 9 y/o boy received a bite on the right forearm by another boy, and is brought to the clinic an hour later. His
records show up-to-date immunizations. P/E shows a swollen tender lesion with tiny bleeding on the right forearm. There are no other
abnormal findings. Apart from cleaning the wound, the best next treatment is
A. observation
B. amoxicillin
C. ampicillin + clavulanate
D. amoxicillin + clavulanate
E. clindamycin
F. erythromycin
60. In medical records, human bites have been shown to transmit all the following infections EXCEPT
A. hepatitis B
B. hepatitis C
C. herpes simplex
D. syphilis
E. TB
F. actinomycosis
G. tetanus
H. AIDS
Cardiovascular diseases (CVDs) carry a high morbidity and the highest mortality rate among all diseases in most
countries. CVDs are closely related to human life styles and thus can be reduced significantly by regular health
examinations, consultations, and life style modifications.
PEARLS: IMPORTANT DIFFERENTIATIONS OF CHEST PAIN
Chest pain is the most common symptom for most CVDs, respiratory diseases, and some upper abdominal diseases.
Thus, it’s important to grasp the differential points.
Angina and myocardial infarction (MI): See details on the same topic below.
Myocarditis: It is usually preceded by a viral disease, with a vague chest pain. Creatine kinase (CK)-MB is often
increased. ECG (EKG) will show abnormal conduction or Q waves.
Pericarditis: It may be preceded by a viral illness. Chest pain is sharp, pleuritic, and positional -- worse with
lying down and relieved by sitting up. Pericardial rub is often positive. ECG usually shows diffuse ST elevation
without Q waves. CK is mostly normal. It responds well to anti-inflammatory drugs.
Pleuritis: It usually occurs after lung infection; with sharp chest pain worse on inspiration and certain position;
tenderness, friction rub or dullness may be present. CXR or CT scan is the best means of diagnosis.
Pneumonia: Moderate chest pain with fever, cough, sputum, and hemoptysis. CXR is the best test.
Pneumothorax: Sudden, sharp, pleuritic chest pain and dyspnea; absent breath sounds; mediastinum shifted
to the opposite site. Suspect of tension pneumothorax requires emergent intercostal needle puncture. Non-tension
pneumothorax can wait for CXR confirmation and natural relief.
Aortic (aneurysm) dissection: Very severe, sharp, tearing chest pain; typically radiating to the back; loss of
pulses, unequal BP between arms, or aortic insufficiency; neurologic signs; mediastinum widened on CXR.
MI may occur if dissection extends into coronary artery (Cor-A). Diagnosis is confirmed by TEE, CT scan, or
aortography.
Pulmonary embolism (PE): Sudden chest pain, dyspnea, tachycardia, cough, and hypoxemia, usually 3-5 days
after a surgery or long immobility. The chest pain is usually pleuritic but may resemble angina. CT pulmonary
angiography has supplanted V/Q scanning as the preferred means of diagnosis.
Mitral valve prolapse: Transient chest pain with typical midsystolic click murmur.
Pulmonary hypertension: Dull chest pain with symptoms and signs of right ventricle (RV) failure.
Costochondritis: Chest pain is usually stabbing, localized, and exacerbated with inspiration; reproducible or
worse with chest palpation. ECG is normal (Nl).
Gastric diseases: GERD (burning chest pain, acid reflux, bad taste, relief with antacids); stomach spasm; PUD
(epigastric pain before or after eating).
Pancreatitis: Post-meal persisting sharp epigastric pain radiating to the back, with nausea/vomiting, fever, and
increased amylase and lipase levels.
Gallbladder disease: (Post-meal) right upper quadrant (RUQ) abdominal pain with tenderness, nausea/vomiting,
jaundice, etc.
Hiatal hernia: Burning chest or epigastric pain; nausea/vomiting; reflux of food; relief with antacids.
ARRHYTHMIAS
Definition: Abnormality (Abnorm) of cardiac rhythm. It can be asymptomatic (Asympt), symptomatic (Sympt), or
lethal. Causes of arrhythmia are various and should be treated specifically. Prophylactic antiarrhythmic drugs are
generally not recommended because they increase the mortality (especially for ventricular tachycardia, V-Tach).
Common cardiac arrhythmias are summarized in Table 2-1, 2-2, 2-3 (Images 1-10).
Verapamil: It causes significant A-V block in ECG, moderate decrease in coronary blood flow and cardiac
contractility, hypotension, and ankle edema. It’s contraindicated in sick sinus syndrome, A-V node block and
ejection fraction (EF) < 35%.
Diltiazem: It causes moderate A-V block and increase in coronary blood flow, mild decrease in contractility, and
mild hypotension.
Nifedipine: It has minimal A-V block; mild decrease in cardiac contractility; significant hypotension; increase in
coronary blood flow, ankle edema, and headache. It’s contraindicated in aortic stenosis and unstable angina.
(4) Newer therapies: Ranolazine, a late Na-channel blocker, is used either in combination with a beta blocker or as
a substitute in patients who cannot receive one.
2. Treatment of unstable angina:
(1) Hospitalize the patient and treat with aggressive medications - aspirin, nitrates, beta-R blockers, heparin, and
lipid-lowering agents as described above. Heparin (IV or SC) or low molecular weight heparin (LMWH) is the
major therapy because of its high efficacy.
(2) Glycoprotein inhibitors with angioplasty and stent placement are very effective, but thrombolytics are not.
(3) Revascularization:
(a) CBG (Coronary bypass graft): Very useful in those with major left coronary disease or 3-vessel disease and
left ventricular (LV) dysfunction. It’s indicated in cases with symptoms despite medical treatment or with severe
adverse effects from therapies. It’s more beneficial in those with diabetes or low ejection fraction, although the
performance carries more risk.
(b) PTCA (Percutaneous transluminal coronary angioplasty): It is indicated in significant cardiac lesions not
eligible for CBG. It’s an easier procedure with more risk of re-stenosis. Stent placement is now a standard
procedure. Glycoprotein 2b/3a inhibitors (abciximab, tirofiban, or eptifibatide) are usually used with the procedure,
followed by aspirin plus ticlopidine or clopidogrel.
3. Preventive therapies:
(1) Lifestyle modification for risk reduction (highly important!): Smoking cessation; reduction of stress, weight,
and Chol & Trig; regular exercise; treatment of diabetes, hypertension, anemia, COPD, etc.
(2) Antiplatelet therapy: Low-dose aspirin daily is very effective in prevention of angina. New antiplatelet drug -
-ticlopidine or clopidogrel is an alternative to aspirin in patient who cannot tolerate aspirin. Note that ticlopidine
can cause adverse neutropenia.
(3) Lipid management: See “HYPERLIPIDEMIA”.
Myocardial Infarction (MI)
MI is ischemic myocardial necrosis as a result of an abrupt reduction in the coronary blood flow to a segment
of myocardium, usually due to a thrombotic occlusion of a coronary artery previously narrowed by
atherosclerosis. MI is associated with a 30% mortality rate and 50% pre-hospital deaths.
Etiology
Atherosclerosis by all causes is the main pathologic basis. Most cases are due to acute coronary thrombosis--
atheromatous plaque ruptures into the vessel lumen and thrombosis forms on top of the lesion causing the vascular
occlusion.
Risk factors: Same as those for CAD (above).
Non-atherosclerosis causes: Vasculitis, SLE, polyarteritis nodosa, Takayasu arteritis, mucocutaneous lymph node
(LN) syndrome (Kawasaki disease, Image 36), coronary spasm, variant angina, cocaine abuse, coronary artery
embolus, atrial myxoma, atrial or ventricular thrombus, polycythemia vera, thrombocytosis, and anomaly of
coronary arteries.
Pathogenesis
Acute MI is mostly “ST-elevated MI” and localized to the left ventricle (LV) and in one of the two forms below:
1. Transmural infarct: It’s more often associated with Q waves.
2. Subendocardial infarct: It’s mostly “non-Q wave” MI, confined to the inner 1/2 to 1/3 of the LV wall. The LV
subendocardium region is most susceptible to ischemia, because of tenuous oxygen supply. Diltiazem use can
reduce the risk of recurrence.
PEARLS: Coronary artery anatomy and MI (Images 1-10)
LCA and LAD —Supply most of the LV and the anterior interventricular septum; the most common occlusion
in CAD, causing LV anterior wall MI.
CFX—Circumflex artery, supplies the left lateral wall; its occlusion causes lateral wall MI.
RCA—Supplies the SA, AV nodes, and most of the inferior portion of the LV. Its occlusion causes inferior MI.
Essentials of diagnosis
1. Symptoms: Characteristic chest pain - Severe, crushing, prolonged (usually > 20min) chest pain, similar in
quality to but more severe than angina; associated with dyspnea, anxiety, diaphoresis, nausea, vomiting,
weakness, low fever, sense of impending doom, and syncope (in elderly). Painless and atypical MI can be up to 1/3
cases and more likely in postoperative or diabetic patients and the elderly. Sudden cardiac death can occur due to
ventricular fibrillation (V-fib).
2. Signs: Congestive heart failure (CHF) - arrhythmias (mostly tachycardia; inferior MI may have bradycardia),
S4 gallop, JVD, and dyskinetic left-Ventr impulse. Cardiogenic shock signs are seen with > 40% of myocardial
infarction - BP decrease, S3 gallop, and rales. Systolic murmur of papillary muscle or Ventr-septal rupture or
pericardial friction rub (usually with transmural infarction) on the 3rd-4th day may be heard.
3. PEARLS--ECG (Images 9-10): It’s the best diagnostic test before 6 hours of onset and represented by
ventricular wall hypokinesia, peaked T waves (early), ST-segment elevation (transmural infarct) or depression
(subendocardial lesion), new left bundle branch block (LBBB), or Q waves (necrosis, late).
LV anterior wall MI (#1 common): ST-segment elevation (+ Q wave) in anterior leads (V1-4).
Posterior MI: ST-segment depression (+ large R wave) in inferior leads (V1-2).
Inferior MI: ST-segment elevation (+ Q wave) in inferior leads (II, III, and aVF).
Lateral wall MI: ST-segment elevation (+ Q wave) in leads I, aVL, and V5-6.
4. Cardiac enzymes (Figure 2-1):
(1) CK-MB is both highly sensitive and specific for MI when measured within 36 hrs of chest pain. It begins to
elevate at 4-6 hrs after MI, reaches a peak at 12-24 hrs and is back to normal in 72 hrs. CK levels may increase
following cardioversion, defibrillation, cardio-pulmonary resuscitation, or muscle trauma, but the MB fraction will
only increase with certain extent of myocardiocyte death.
(2) Troponin is most specific but moderately sensitive; it begins to rise 2-4 hrs after the start of the chest pain, and
remains high for 7-10 days. It’s a more valuable biomarker for MI with the chest pain within 8 hrs and after
36 hrs.
(3) Lactate dehydrogenase (LDH): It’s non-specific and not used for diagnosis of acute MI, but useful for re-
infarction. In acute MI, LDH increases after 12 hrs of chest pain and peak in 24-72 hrs and remains high for 10-
14 days after MI. LDH-1/LDH-2 ratio > 1.0 supports of MI.
5. CBC: Leukocytosis of 10-20 x 103/uL.
6. Thallium-201 (Tl-201) and Technetium-99m (Tc-99m) scan: Tl-201 scan is sensitive but not very specific
because it cannot distinguish between zones of severe ischemia (“cold spots”) and infarction. Tc-99m scan
provides better resolution for the same function.
7. Special type of MI: It may be clinically silent or present as CHF or dysrhythmia in the absence of chest pain,
especially in elderly, postoperative, hypertensive, or diabetic patients.
Figure 2-1: Biomarkers of Acute MI (Courtesy of www.circ.ahajournals.org)
Differential diagnosis
Angina, pulmonary embolism (PE), pneumothorax, pneumonia, aortic dissection, pericarditis,
costochondritis, etc.
Treatment of MI
1. “ABC” first - airway, breathing, and circulation. Supplemental oxygen has shown a reduction in the risk of
death.
2. Treat sustained ventricular arrhythmia or heart failure rapidly.
3. Beta1-R blockers: They’ve been shown to reduce post-MI mortality clearly if no contraindications exist
(bradycardia, A-V block, hypotension, or COPD). A beta 1 blocker (metoprolol) is a good early start (IV per 5
min) after an acute MI and continuum as a maintenance therapy.
4. Nitrates (PO or IV): It can alleviate pain, lung congestion, and left heart failure, but not clearly reduce post-MI
mortality.
5. Antiplatelet therapy: Aspirin (PO) can reduce coronary reocclusion by inhibiting platelet aggregation on top of
the thrombus and clearly reduce post-MI mortality. It’s used as part of the maintenance therapy. Clopidogrel,
ticlopidine (less S/E), or prasugrel is indicated in (1) aspirin intolerance (such as allergy); (2) recent angioplasty
with stenting. Prasugrel has more risk of hemorrhagic stroke in elder patients. Other NSAIDs should be
avoided or stopped in MI.
6. Thrombolytic therapy: Best within 6-12 hrs for ST segment elevation MI; the earlier, the better outcome.
Indications include typical chest pain of acute MI <12 hrs and new LBBB. t-PA (with more tissue selection),
streptokinase (with stronger effect), reteplase, or anistreplase is among the good options. Beyond 24 hrs of
symptom onset, it is usually ineffective and contraindicated.
Complications of thrombolysis:
(1) Overuse: hemorrhage, more common with tissue plasminogen activator.
(2) Re-perfusion arrhythmias.
Contraindications to thrombolytic therapy:
(1) Active bleeding disease;
(2) Dissecting aortic aneurysm (suspect);
(3) Uncontrolled hypertension > 180/110 (First control BP, then give thrombolytics);
(4) Known traumatic CPR;
(5) Recent head trauma or stroke (< 3 months);
(6) History of major trauma or surgery (< 3 yrs).
7. Analgesics: IV opiates (morphine) are important to relieve pain, to supply relaxation and sedation, and to
alleviate CVS and respiratory stress effectively.
8. ACE inhibitors (Angiotensin-converting enzyme inhibitors, ACE-I): It has shown to reduce post-MI mortality.
It’s best beneficial for post-MI patients with CHF, LV dysfunction with an EF (ejection fraction) < 40%, or
regurgitant disease. It should be started early and in the maintenance therapy. It’s also used in any anterior wall MI
and should be stopped after 6 weeks. Dry cough is the most common S/E. If it’s intolerable to the patient, the ACE-
Inh should be ceased and another agent be considered.
9. Hypolipidemic therapy: Atorvastatin should also be started early and before PCI.
10. Anticoagulation: Heparin--IV bolus initially and then continuous infusion to keep the PTT 1.5-2 times the
normal value. It’s useful for unstable angina and as a follow-up treatment for t-PA use.
11. Coronary angiography and angioplasty—indications:
(1) Patients with typical and persistent symptoms with new left bundle branch block; (2) Acute MI when
thrombolytics are contraindicated or patient is in a well-equipped hospital; (3) Clinical CHF, post-MI patient with
CHF, EF < 40%, recurrent ischemia and ventricular arrhythmias, or failed thrombolytic therapies.
For most patients, clinical trials have demonstrated superiority of primary percutaneous coronary intervention (PCI),
irrespective of whether balloon angioplasty or stenting is performed. Bypass surgery — Coronary artery bypass graft
surgery (CABG) is infrequently performed in patients with STEMI. The main indications are for emergent or urgent
CABG related to failure of fibrinolysis or PCI, or hemodynamically important mechanical complications.
The benefit of revascularization must be weighed against the increase in mortality associated with CABG in the first
three to seven days after STEMI. Thus, if the patient has stabilized, surgery should be delayed to allow myocardial
recovery. Patients with critical anatomy should undergo CABG during the initial hospitalization.
Contraindications to full-dose anticoagulation:
(1) Active bleeding disease;
(2) Recent major surgery;
(3) Severe hypertension (sustained BP > 190/110 mmHg);
(4) Hemorrhagic diathesis (congenital, hepatic, or drug-induced);
(5) Presence of purpura;
(6) Infectious endocarditis;
(7) Anticipated invasive bedside procedures (e.g., thoracentesis, artery or vein insertion).
12. Erythropoietin: Its non-erythropoietic effects including anti-inflammatory, antiapoptotic, and angiogenic
properties may be cardioprotective in patients with acute ST-elevated MI.
13. Post-MI management:
(1) Stress testing: All post-MI patients should have a submaximal stress test (70% target load) after 5-7 days or a
maximal stress test (85% target load) after 2-3 weeks.
(2) Postinfarction angina or ischemia on stress test: Angiography is recommended to determine the need for
angioplasty or bypass surgery.
(3) Medical treatment: A beta-R blocker and aspirin should be given to all post-MI patients without a specific
contraindication. ACE-I should be used in cases with EF < 40%. Lipid lowering drugs should be used to maintain
LDL < 100 mg/dL. Smoking and alcohol abstinence is necessary.
Complications of acute MI
1. Arrhythmias
(1) Sinus bradycardia: commonly seen early stages of (inferior) MI due to sinus or A-V junctional block and may
be protective. Usually no treatment is needed. If it’s severe, atropine or temporary pacing can be applied.
(2) Premature atrial or ventricular contractions (PVC): observation.
(3) Tachyarrhythmias: Supra-ventr (SVT) - adenosine is the #1 choice; Ventr-tachycardia (V-tach) - lidocaine
is the #1 drug (smaller dose for the elderly, and never used as prophylaxis because lidocaine can induce V-tach or
V-fibrillation by itself); V-fibrillation (V-fib) or asystole--immediate defibrillation and CPR to save life!
(4) Temporary transvenous pacing—indications: Complete A-V block; 2nd degree A-V block (type 2); sinus
bradycardia despite atropine use; LBBB during MI; new bifascicular block; with hypoperfusion.
2. Pump dysfunction: Left or right ventricular or bi-ventricular failure; Ventr-aneurysm; infarct expansion. Severe
left or bi-ventricular failure is an indication for intra-aortic balloon counter-pulsation. This can increase cardiac
output and perfusion through the coronary artery.
3. Mechanical disruption: Papillary muscle dysfunction or rupture (causing mitral regurgitation, with systolic
murmurs at apex radiating to the left axilla), Ventr-septal rupture (within 10 days, repairable), free wall rupture
(causing cardiac tamponade, with 90% mortality), or pseudoaneurysm (risky of rupture). Treatment requires
emergent surgical repair.
4. Acute pericarditis—Dressler syndrome—Post-MI syndrome: It’s immunologically based, with fever, malaise,
pericarditis, pleuritis, and leucocytosis; usually late onset, 2-4 weeks post-MI. The effective therapy is aspirin.
Steroids should be avoided because they may hinder myocardial scar formation.
5. Thromboembolism: Mural thrombus with systemic embolism or DVT with prolonged immobilization. Frequent
movements are the best prevention and treatment.
6. Postinfarction angina: If it’s after thrombolytic therapies, it should be treated with angioplasty or bypass
surgery.
7. Recurrent infarction: It includes extension of existing infarction and re-infarction, with high mortality.
Diagnosis is difficult but should be suspected if there is a persistent elevation or re-elevation of ST-segment and
high CK-MB after 36 hours. Treatment is repeating thrombolysis or urgent cardiac catheterization and PTCA, along
with standard medical therapies for MI.
8. Sudden cardiac death: Mostly due to Ventr-fibrillation or/and asystole.
Right Ventricular Myocardial Infarction (RVMI)
RVMI mainly results from occlusion of the proximal right coronary artery, accompanying about 30% of the inferior
LV-MI. The patient usually shows a typical right-sided infarction and heart failure, with the classic physical triad
of hypotension, JVD, and clear lungs on auscultation. ECG usually reveals ST-segment elevations in an inferior
and a posterior distribution (I, III, aVF, and V4R).
Diagnosis: Based on the above “Triad”, increased cardiac enzymes, and abnormal ECG results (ST-elevation) in
right ventricular leads (V4R).
Treatment: The primary treatment is maintenance of the RV preload--fluids, NOT diuretics; normal saline but
not nitrates or opioids, and augmentation of the cardiac contractility—dopamine. Patients with predominant RVMI
usually do not benefit from afterload reducing treatment with either an intraaortic balloon pump or vasodilating
agents. It’s critical for early effective corrections to restore perfusion.
Acute Coronary Syndrome (ACS)
ACS refers to any group of symptoms attributed to obstruction of the coronary arteries. ACS usually occurs as
a result of one of three conditions: ST-elevation myocardial infarction (30%), non-ST-elevation myocardial
infarction (25%), or unstable angina (38%).
It is difficult to determine the precise etiology from its history and P/E alone. The risk factors for ACS are the
same as for CAD.
PEARLS: Diagnostic guidelines for ACS
1. The most common symptom prompting diagnosis of ACS is pressure-like chest pain (> 30 min with
infarction), often radiating to the left arm, and associated with anxiety, nausea, and diaphoresis.
2. Lab diagnosis: (1) ECG is abnormal immediately at onset of typical chest pain. ST-T elevation progresses to Q-
waves or left branch block over up to 7 days. (2) Abnormal myoglobin starts 1-4 hrs after chest pain and lasts 1-2
days; CK-MB starts 4-6 hrs and lasts 3 days; troponin starts 2-4 hrs and last 7-10 days. Troponin cannot distinguish
a reinfarction occurring several days after the first onset. Renal inefficiency can result in a false increase in troponin.
3. Reinfarction: If a patient presents with a new chest pain within a few days of the first infarction or attack, perform
an ECG to detect new ST segment abnormalities. Elevated CK-MB levels after several days indicate new infarction.
PEARLS: Therapeutic guidelines for ACS
1. ST-elevation MI: Oxygen, aspirin and beta1 blockers should be started ASAP for best benefits. Primary PCI
within 90 min of first medical contact is the goal. Thrombolysis within 30 min in hospital and 6-12 hours of onset of
symptoms reduces mortality.
2. Post-MI take-home medications: Aspirin (or clopidogrel if aspirin-intolerant), beta1 blockers (metoprolol),
ACE-I (or ARB—angiotensin-R blockers if cough-persistent), and statins.
3. Glycoprotein IIb/IIIa inhibitors (abciximab, tirofiban, eptifibatide): Useful in ACS with ST depression (non-
ST elevation MI) and patients to undergo angioplasty and stenting. tPA is beneficial only with ST elevation MI.
Heparin is best for non-ST elevation MI.
4. In non-ST elevation ACS, if patient is not better (persistent pain, S3 gallop, worse ECG changes, and rising
troponin levels) after using all given medications, urgent angiography and possibly angioplasty (PCI) should be
performed.
5. The No.1 common cause of death is ventricular arrhythmia—tachycardia and fibrillation. Immediate
electrical cardioversion or defibrillation should be ready to perform.
Contraindications: Do not use any “prophylactic antiarrhythmic medications for ventricular tachycardia or
fibrillation” because it increases ventricular arrhythmia and mortality!
Do not use nitrates and sildenafil together to avoid severe vascular complications.
Post-MI impotence: Erection problem is mostly due to anxiety. Sexual activity can be recovered when patient is
asymptomatic.
HEART FAILURE (HF)
Heart failure (HF), usually referred to as “Congestive heart failure” (CHF), is a common clinical syndrome resulting
from any structural or functional cardiac disorder that impairs the ability of the ventricle to fill with or eject blood
and the heart to maintain an adequate output to meet the body’s circulatory and metabolic demands under normal
conditions. HF due to left ventricular dysfunction is newly categorized according to left ventricular ejection fraction
(LVEF) into HF with reduced ejection fraction (with LVEF ≤ 40 percent, known as HFrEF; also referred to as
systolic HF) and HF with preserved ejection fraction (with LVEF > 40 percent; known as HFpEF; also referred to as
diastolic HF). CHF is characterized by insufficient oxygen delivery to tissues accompanied by the accumulation of
fluid in the lungs and lower body. CHF is mostly from systolic dysfunction, with a low ejection fraction and dilation
of the heart.
Etiology
1. The most common cause is primarily abnormal myocardiocytes from MI or ischemia.
2. The second common cause is abnormal myocardiocytes due to prolonged exposure to a hemodynamic burden
(primary hypertension, aortic regurgitation, or pulmonary hypertension), myocarditis, cardiomyopathy, alcohol, drug
toxicity, or infiltrative disease (sarcoidosis, amyloid, or hemochromatosis).
3. Structural abnormalities: CAD, valvular diseases, congenital heart diseases, pericardial diseases, outflow
obstruction, high-output heart failure (hyperthyroidism, pregnancy, Vit-B1 deficiency).
4. Precipitating factors: Increased salt/fluid intake, excess exertion or emotion, arrhythmias, systemic infection, renal
failure, cardiac depressants (disopyramide or beta-R blockers), or inappropriate decrease of a drug dose.
Pathogenesis
Heart failure is pathologically characterized by reduced cardiac output with or without pooling of blood in venous
circulation (venous stasis).
1. Systolic dysfunction: Impaired myocardial contractility (as from CAD) with decreased ejection fraction (EF).
2. Diastolic dysfunction: Pressure-volume overload (as from hypertension, valvular dysfunction) with normal or
supranormal EF, but decreased total cardiac output.
3. Frank-Starling law: (1) In a normal heart, increasing preload results in greater contractility. (2) A failing heart
with exertion generates relatively less contractility and significant symptoms.
Essentials of diagnosis
1. Manifestations of left-sided (LV) heart failure: Exertional dyspnea, orthopnea, PND (paroxysmal nocturnal
dyspnea), cough with frothy or pink sputum, crackles/rales at lung bases, cardiac enlargement and displaced PMI (to
the left), S3 (ventricular) gallop, and S4 murmur.
2. Manifestations of right-sided (RV) heart failure: Elevated venous pressure, JVD (jugular vein distention),
ankle edema, hepatosplenomegaly, and hepato-jugular reflux, ascites, right ventricular heave, and nocturia due to
elevated legs and venous return during sleep.
3. Chest X-ray (CXR) reveals signs of CHF—fluid retention based on vascular congestion (prominent interstitial
markings), cardiac enlargement, Kerley’s B lines, and pleural effusion. See Image 14.
4. Two-dimensional echocardiography will show the wall motion abnormality and low ejection fraction (usually <
40%). Multigated (MUGA) scan or radionuclide ventriculography can also measure EF.
Differential diagnosis
Cardiac dyspnea:
Typical presentations are sudden onset of dyspnea without sputum or history of pulmonary diseases or smoking.
Pulmonary function test (PFT) shows restrictive ventilatory defect.
Pulmonary dyspnea:
More gradual onset (except with infections, pneumothorax, or asthma), dyspnea at night, often associated with
sputum, history of COPD, smoking, or noxious inhalants. PFT usually shows obstructive or restrictive ventilatory
defect.
Treatment
Treatment of HF with reduced EF includes management of contributing conditions such as hypertension, ischemic
heart disease, valvular heart disease, diabetes, thyroid dysfunction, and infection, as well as lifestyle modifications
including smoking cessation, restriction of alcohol and salt ingestion, and weight control/reduction.
1. Reduction of cardiac workload:
(1) Non-medical treatment and correction of reversible causes: Reduce physical and emotional stress and salt/fluid
intake; remove exacerbating factors (infection, anemia, heat, obesity, etc); treat vascular lesions, myocardial
ischemia, uncontrolled hypertension, etc.
(2) Medications: A diuretic and vasodilator are first-line therapies (especially with hypertension) to reduce
preload, afterload, and mortality. Hydralazine plus spironolactone are recommended for chronic HF. Loop
diuretics and nitrides are the best initial medicines for acute left HF with pulmonary edema, plus O2-PEEP,
morphine, nitroglycerin and dobutamine. ACE inhibitors (ACE-I) are more effective in decreasing preload
(mainly) and afterload when the ejection fraction < 40%, better with spironolactone. Angiotensin II receptor
blockers (losartan, valsartan, irbesartan, or candesartan) can be chosen if ACE-I is intolerable. Beta 1 -blockers are
helpful in HF with systolic dysfunction but not with diastolic dysfunction or acute HF; be cautious when the EF is
very low.
2. Improvement of cardiac performance:
(1) Positive inotropic agents: They are indicated with reduced EF or if the above treatment fails. These can
improve symptoms shortly but have not shown to reduce mortality.
Cardiac glycosides—digitalis: Best for severe CHF with atrial fibrillation or EF < 40% despite treatment with
ACE-I and beta-blockers, etc. Mechanisms are inhibition of Na-K-ATPase, resulting in intracellular Na and Ca
increase, and thus inotropic effect. Potassium competes with digitalis’ binding sites and so hyper-K will decrease its
activity, whereas Hypo-K results in higher activity or toxicity (same as by quinidine, Ca-blockers, thiazides,
furosemide & bumetanide). Spironolactone can decrease renal clearance of digitalis. Cholestyramine and colestipol
can interfere with its GI absorption.
Digitalis intoxication:
Nausea, vomiting, blurred vision with yellow halo, and arrhythmias (#1 is paroxysmal atrial tachycardia with A-V
block). Treatment: (a) Mild—stop the medication and correct hypo-K. (b) Severe A-V block—choose atropine. (c)
If digitalis level is > 10 mg/L, use anti-digitalis fragment. (d) Anti-arrhythmia: use lidocaine or phenytoin.
Other positive inotropic medicines: Intermittent use of dobutamine or phosphodiesterase inhibitor (amrinone,
milrinone).
(2) Correction of underlying arrhythmias and deficiencies.
3. Surgical correction: It may be considered for heart failure (HF) due to valve lesions or diastolic dysfunction.
Heart transplantation can be the last option for an appropriate patient with end-stage HF.
HYPERLIPIDEMIA
It’s defined as total cholesterol (Chol) level > 200 mg/dL, including increased LDL-C and triglyceride (TG). It’s a
major risk factor for CAD as with age (M > 45, F > 55), smoking, diabetes, hypertension, low HDL (< 40), and
history of CAD, etc. Common causes include obesity, diabetes, alcoholism, OCP use, familial hypercholesterol,
hypothyroidism, hepatic disease, nephritic syndrome, Cushing syndrome, and high-dose diuretic use.
Essentials of diagnosis
1. Most patients have no specific symptoms and are found out by lipid screening testing: total serum cholesterol
levels >200 mg/dL on two different occasions is diagnostic.
2. LDL-C >130 or HDL-C <40 (mg/dL) is diagnostic of dyslipidemia, regardless of the total cholesterol levels.
3. TG >100 mg/dL (in children <10 years) and >130 mg/dL (children >10 years).
4. Hypercholesterolemia appearance: xanthelasmas—yellowish adipose deposit around the eyelids, etc.
Screening, prevention and treatment
Cholesterol (Chol) monitoring is highly important—it’s the best screening test and preventive measure for
coronary artery disease (CAD). It should be started at age 35 in males and 45 in females for most people (5-10
years earlier if with risk factors for CAD), then every 5 years if results are normal, or evaluation for 10-year risks for
CAD. Treatment is based on risk factors and LDL-C levels mainly, not on a low HDL or high triglyceride (TG)
itself.
1. The best initial screening test is total fasting cholesterol levels. If fasting is not practical, non-fasting total
cholesterol and HDL can be the screening.
2. If total fasting cholesterol is <200 and no risk factors, retest in 5 years. If the fasting cholesterol is >200, patient is
treated based on LDL-C levels and risk factors.
3. Patients with LDL of 130-159 mg/dL or triglyceride >250 mg/mL with 0-1 risk factor: borderline risk, treat with
an initial 3-month plan of diet modification and exercise.
4. Indications for starting lipid-lowering medications:
(1) Any CAD history (or an equivalent) and LDL >130 mg/dL (some suggest >100 mg/dL); CAD equivalents:
peripheral artery disease, diabetes mellitus, carotid or the aortic artery disease;
(2) No CAD but LDL >160 mg/dL with two risk factors;
(3) LDL >190 mg/dL alone. The goal is to keep LDL lower than 100 mg/dL (or <70 with CAD plus a CAD
equivalent). HMG CoA reductase inhibitor (statins) is the first choice of drugs. Add niacin if the statin alone is
ineffective. Use the fibrates if both are intolerable.
(4) For future treatment with LDL >100 mg/dL and a history of CAD or CAD equivalent (diabetes, disease of
the aota, carotid or peripheral artery), lipid-lowering drugs are started to lower LDL to less than 100 mg/dL.
(5) If HDL is low (and TG is high): Treat with niacin or gemfibrozil.
Note: Inh = inhibit or inhibitor; Decr = decrease; Incr = increase; Chol = cholesterol; TG = triglycerides
SYSTEMIC HYPERTENSION
Systemic hypertension (HTN) is defined as a state of repeatedly elevated blood pressure (BP) ≥ 140/90 mmHg on
three occasions. Both systolic and diastolic pressures are important in determination of the circulation and functions
of organs. However, systolic hypertension is a more powerful predictor of cardiovascular conditions and clinical
prognosis, especially after 50 y/a when diastolic pressure tends to decrease. By etiology it is generally classified into
primary and secondary hypertension.
Conceptions:
Hypertension by office-based blood pressure:
Normal blood pressure: systolic < 120 mmHg and diastolic < 80 mmHg;
Prehypertension: systolic 120 to 139 mmHg or diastolic 80 to 89 mmHg;
Stage 1 hypertension: systolic 140 to 159 mmHg or diastolic 90 to 99 mmHg;
Stage 2 hypertension: systolic ≥ 160 mmHg or diastolic ≥ 100 mmHg;
Isolated systolic hypertension: BP ≥ 140/< 90 mmHg;
Isolated diastolic hypertension: BP < 140/ ≥ 90 mmHg.
Essentials of diagnosis
1. Variable systemic symptoms: High fever with shaking chills (for acute cases) or low-grade fever (for the
subacute); cough, dyspnea, anorexia, general weakness, and weight loss.
2. P/E results and complications: Include murmur (new or changed), joint tenderness, Osler’s nodes (tender
nodules on finger and toe pads, Image 39), Janeway’s spots (small peripheral hemorrhages, splinter hemorrhages
(subungual petechiae, Images 40), and Roth’s spots (retinal hemorrhages, Image 147).
3. Lab diagnosis:
(1) Culture and sensitivity (C/S) is the best means of diagnosis (> 95% sensitivity)—three sets of blood cultures
separated in time (> 1 hour) and location, usually showing multiple positive same pathogens. ESR is increased.
ALWAYS take blood for C/S before use of antibiotics!
(2) Echocardiogram: Positive finding of vegetations is confirmative, but negative result does not rule it out. In
general, transthoracic echocardiography (TTE) is the first diagnostic test for suspected patients. Transesophageal
echocardiography (TEE) has higher sensitivity than TTE and is better for detection of cardiac complications such as
abscess, leaflet perforation, and pseudoaneurysm. CXR may reveal septic emboli in right-sided endocarditis.
Other complications for diagnostic consideration
Conjunctival petechiae; brain lesion (mycotic aneurism); renal lesions (hematuria, glomerulonephritis);
splenomegaly; septic emboli to the lungs.
Treatment
1. Empirical long-term antibiotic therapy for 28 days, initially covering Gram+ bacteria then adjusting by the
culture/sensitivity results. For Staph-aureus: 14-day regimen of nafcillin or vancomycin; if > 60 y/a, add
ampicillin (for Listeria). Choose ceftriaxone (4 weeks) for pneumococcus or Strep-viridians/bovis, ampicillin +
gentamicin for Enterococci, and choose amphotericin and valve replacement for fungal endocarditis.
2. For culture-negative/difficult endocarditis, possible organisms include Hemophilus aphrophilus or
parainfluenza, Actinobacillus, Cardiobacterium, Eikenella, and Kingella. Ceftriaxone is the drug of choice for this
group of organisms.
3. Always monitor for relapse, add an aminoglycoside, and extend the duration of antibiotics. Perform valve
replacement for recurrent Gram- or fungus infections, worsening valvular function (especially aorta or mitral
stenosis), systemic emboli or conduction disturbances. For endocardial abscess or vegetation, perform immediate
debridement. If valve replacement is intolerable, valvulotomy can be chosen.
4. Indications for antibiotic prophylaxis:
(1) High-risk procedures (dental procedures, bronchoscopy with biopsy, GI or GU procedures with ongoing
infection, procedures on infected skin or musculoskeletal tissue, or intracardiac procedures) with high risk diseases
(unrepaired valvular diseases, cyanotic diseases, history of previous infectious endocarditis, and severe rheumatic
heart diseases).
(2) High-risk procedures (as above) with moderate-risk diseases: ASD, PDA, VSD, bicuspid aorta, aorta
coarctation, rheumatic valvular diseases, MVP, myxoma, hypertrophic cardiomyopathy.
5. Selection of preventive antibiotics:
(1) For oral, respiratory, esophageal procedures: the first choice of medicines is amoxicillin, ampicillin or
erythromycin (if not available, choose clindamycin, azithromycin, clarithromycin).
(2) For GU, GI procedures: choose ampicillin + gentamycin; if not available, choose vancomycin + gentamycin.
Note: Low-moderate risks that do not need antibiotics:
GI-endoscopy, esophageal intubation (but needed for esophageal dilation), vaginal delivery, hysterectomy, and
valvular diseases with arterial catheterization.
Rheumatic Fever
It is a systemic nonsuppurative immune process following a pharyngeal streptococcal (Strep) infection. Most cases
of acute rheumatic fever occur in children 5 to 15 years of age, more common in developing countries. Rheumatic
fever may result in valvular heart disease, with mitral stenosis as the most common one. Other valvular lesions may
also occur.
Major criteria for diagnosis:
1. Migratory arthritis (multiple large joints); 2. Carditis and valvulitis; 3. CNS involvement (e.g., Sydenham chorea);
4. Erythema marginatum; 5. Subcutaneous nodules.
Minor criteria:
Fever, polyarthralgias, increased ESR, prolonged PR interval in ECG, prior history of rheumatic fever, preceding
Strep infection, or ASO (+).
Diagnosis of acute rheumatic fever—Jones Criteria:
Two major criteria, or one major plus two minor criteria.
Differential diagnosis
Endocarditis, RA, SLE, osteomyelitis, SCD, and Lyme disease.
Treatment
1. Treat acute rheumatic fever with bed rest and NSAIDs—aspirin has been replaced by the stronger naproxen with
less adverse effects. Treat streptococcal pharyngitis with long-acting penicillin G benzathine or erythromycin.
Antibiotics help prevent cardiac complications from Strep infection, but not post-Strep nephropathy.
2. Treat the valvular pathology of rheumatic heart disease.
3. Indications for antibiotic prophylaxis: During dental, GI, or genitourinary procedures. Long-acting benzathine
PG is used as the secondary prevention of recurrent rheumatic fever.
VALVULAR HEART DISEASES
Mitral Stenosis (MS)
MS is the most common cardiac lesion caused by rheumatic fever, consisting of thickened mitral valve leaflets,
fused commissures, and chordae tendineae. It can lead to left-to-right ventricular failure. It affects more women than
man.
Pathogenesis
Mitral valve stenosis impairs left ventricle filling. Increased left atrial pressure causes pulmonary congestion.
Forward cardiac output is reduced, secondary pulmonary vasoconstriction occurs, and eventually right ventricular
failure results.
Essentials of diagnosis
1. Most patients present with gradual left-heart-failure symptoms: Exertional dyspnea, orthopnea, PND
(paroxysmal nocturnal dyspnea), fatigue, wasting, and hemoptysis. Later on with progression, systemic embolism,
hoarseness (due to enlarged left atrium), and right-heart-failure signs (hepatomegaly, ascites, and peripheral edema).
History of pregnancy or immigration associated cardiomyopathy may be a precipitator and clue of diagnosis.
2. P/E usually finds typical low-pitched apical diastolic rumble, loud S1, opening snap following S2, decreased
pulse pressure, pulmonary rales (edema), and sternal lift. Murmurs are increased by squatting or leg lifting, and
decreased by standing or Valsalva’s maneuver.
3. Lab diagnosis:
(1) Echocardiography/Doppler confirms the diagnosis: It usually shows thickening of mitral valve leaflets, a
reduction in the excursion and area of the valve leaflets, and increased left atrial size.
(2) ECG: May show signs of RV hypertrophy, left and right atrial abnormalities, and atrial fibrillation.
(3) CXR: May show a large left atrium (early), straightening of the left heart border, elevation of the left main-stem
bronchus, and signs of pulmonary hypertension (Kerley’s B lines, increased vascular markings, and a large
pulmonary artery; Image 14).
Treatment
1. Medical therapy: Diuretics and salt-restricted diet for pulmonary congestion and edema; digitalis (to control the
ventricle rate) and long-term oral anticoagulants in patients with atrial fibrillation. For rheumatic MS, percutaneous
mitral balloon valvotomy (PMBV) is preferred to surgery.
2. Surgery: For most congenital MS and cases with persistent symptomatic despite above treatment,
commissurotomy, balloon valvuloplasty, or valve replacement (more severe) usually produces good results.
Open mitral commissurotomy or valve replacement is often indicated for patients with contraindications for
valvuloplasty. Pulmonary hypertension is not a contraindication for the surgery.
Mitral Regurgitation (MR)
It is insufficiency of the mitral valve that causes backflow of blood from the left ventricle (LV) into the left atrium.
It may remain asymptomatic for many years (or for life) or cause left-sided heart failure.
Etiology
Common causes are rheumatic fever and dilation of the left ventricle, which lead to abnormalities of the mitral
leaflets, annulus, and chordae tendineae. Male > female.
1. Acute MR: #1 cause is post-MI papillary muscle dysfunction. Others include chordae tendinae rupture,
papillary muscle rupture, endocarditis, and trauma.
2. Chronic MR: #1 cause is mitral valve prolapse. Others include rheumatic heart disease (scarring and retraction
of valve and leaflets), papillary muscle dysfunction, endocarditis, calcification of the mitral valve annulus,
hypertrophic cardiomyopathy, congenital endocardial cushion defect, and severe left ventricle (LV) dilatation.
Pathogenesis
A portion of the left-Ventr stroke volume is pumped backward into the left atrium resulting in increased left atrial
pressure and decreased forward cardiac output. There are also overloaded volume, increased preload, and decreased
afterload involved, which help compensate for the regurgitation by increasing ejection fraction. Nevertheless,
prolonged compensation leads to left-Ventr dysfunction.
Essentials of diagnosis
1. Rapid LV failure signs are common: Dyspnea, orthopnea, PND, fatigue, hemoptysis, etc. With severe MR, right-
heart failure signs can co-exist (pulmonary HTN, edema, and ascites).
2. P/E: Hyperdynamic and displaced (downward and to the left) LV impulse. Carotid upstroke is decreased and
brisky. There is a holosystolic apical murmur radiating to the axilla, often with a thrill, S3 with a soft S1 and
widely split S2, and JVD. Murmurs are increased by squatting or leg lifting, and decreased by standing or Valsalva
maneuver.
3. Lab diagnosis:
(1) Echocardiography/Doppler confirms the diagnosis (and helps decide when to operate): Will show abnormal
movement of the mitral valve, and left atrial and ventricular enlargement if chronic.
(2) Others: ECG will show signs of LV hypertrophy and left atrial enlargement. CXR may show Cardiac
enlargement, vascular congestion if with CHF. Catheterization may show a large “v” wave (due to volume overload
on the left atrium).
Differential diagnosis
Mitral valve prolapse: See below.
Aortic stenosis:
Systolic ejection murmur radiating to the carotid/aorta area; delayed carotid upstroke; soft, single or absent S2;
echocardiogram features of aortic stenosis and calcification of the aortic valve.
Hypertrophic obstructive cardiomyopathy (HOC):
It is also called idiopathic hypertrophic subaortic stenosis. (1) Typical systolic outflow murmur, increased with
standing, Valsalva maneuver, or amyl nitrite, and decreased with squatting, leg raising, or hand grip. The
mechanisms are similar with other types of valvular heart diseases. (2) Typical echocardiogram features of HOC.
Papillary muscle rupture with acute MR:
It occurs in about 1% of MI, mostly 3-5 days after infarction, more frequent in inferior-posterior infarcts (posterior
papillary more frequent). Murmur is usually loud and holosystolic radiating to the aorta area. Echocardiogram
usually shows flair or prolapsing leaflet. Doppler shows systolic regurgitant jet into left atrium.
Ventricular septal rupture:
It occurs in 1-2% of all infarcts; peak incidence is 3-5 days after infarction, more frequent in anterior infarcts.
Murmur is loud and holosystolic with widespread radiation and 50% have palpable precordial thrill.
Echocardiogram shows the septum defect. Doppler can show the transseptal left-to-right shunt.
Ventricular septal defect (VSD):
There is a holosystolic shrill murmur over lower left sternal border, with strong and split S2. Radionuclide
studies or Doppler will confirm left-to-right shunt. Cardiac catheterization reveals oxygen jump from right atrium to
ventricle.
Treatment
1. Medications for chronic MR: Use digitalis, diuretics, artery dilators (ACE-I), and warfarin to relieve symptoms by
increasing forward cardiac output and reducing afterload and pulmonary venous hypertension.
2. Surgery: Mitral valve repair (EF<30%) or replacement (>30%) is the choice. Indications include persistent
symptoms with severe MR despite optimal medications. The surgery carries more risk for patients with chronic heart
failure and should be avoided if the heart failure is severe enough. With mild symptoms, surgery should be deferred
because the condition may remain stable for years.
Aortic Stenosis (AS)
Etiology and pathogenesis
The No.1 cause is calcification and fibrosis of a normally aged aortic valve (elderly patients) or congenitally
bicuspid aortic valve. Rheumatic valvular diseases may affect both the mitral valve and aortic valve. The stroke
volume is normal until late stages, with elevated LV end-diastolic pressure and gradual pulmonary congestion. LV
hypertrophy and high intramyocardial wall tension will increase the oxygen demands and decrease diastolic
coronary blood flow, resulting in the onset of angina.
Essentials of diagnosis
1. Most patients are asymptomatic until middle or old age. Typical manifestations include angina, syncope, and
dyspnea from CHF; harsh systolic ejection murmur radiating to the carotid or aorta area; delayed carotid
upstroke; S4 gallop, decreased A2, and aortic ejection click. Murmurs are increased by squatting or leg lifting, and
decreased by standing or Valsalva maneuver.
2. Lab diagnosis:
(1) Echocardiography or Doppler is the best means of diagnosis and shows thick aortic valve leaflets with
decreased excursion and LV hypertrophy.
(2) CXR may present with calcification, cardiomegaly, and pulmonary congestion.
Differential diagnosis
HOC, MR: See above.
Elderly aortic valve sclerosis (without stenosis):
Systolic murmur does not peak late; carotids do not have delayed upstrokes; no LV hypertrophy by ECG; no
significant results by cardiac catheterization. Echocardiogram may show normal or reduced aortic valve leaflets.
Pulmonary stenosis: See below.
Treatment
1. Patients should be given antibiotic prophylaxis for endocarditis.
2. Surgery is indicated for symptoms and asymptomatic patients with severe aortic stenosis.
(1) Valve replacement is the mainstay of surgery for most AS cases when the valve area is ≤ 1.0 cm2. Surgery can
also improve the symptoms if angina, syncope, and left ventricle dysfunction are present, although the operative
mortality is higher.
(2) Balloon valvuloplasty is preferred if the valve stenosis is very severe (usually the area is ≥ 1.0 cm2) without
calcification, in selected children, or if the patient is too weak (with high risk) to tolerate surgery.
Aortic Regurgitation (AR)
Etiology and pathogenesis
Acute AR: Causes include endocarditis, aortic dissection, traumatic leaflet rupture, hypertension, rupture of a
congenitally fenestrated cusp, iatrogenic valve injury during surgery, and prosthetic aortic valve thrombosis or disk
escape.
Chronic AR: Rheumatic fever is the #1 cause, with the mitral valve frequently affected together. Others include
aortic root dilation, congenital bicuspid aortic valve, calcific valve disease, hypertension, and Marfan syndrome.
AR results in a volume overload of the left ventricle (LV), which compensates by increasing its end-diastolic
volume (Frank-Starling law). The LV over-dilation causes overstretch of the myofibrils and decreased contractility.
In chronic AR the pulse, pressure and systolic pressure are increased, and the diastolic pressure is decreased due to
the AR and large stroke volume.
Essentials of diagnosis
1. Severe acute AR commonly presents with sudden cardiovascular collapse and pulmonary edema.
2. Chronic AR is usually asymptomatic until middle age to present with graduate left-sided heart failure. History of
dyspnea, typical diastolic decrescendo murmur at the cardiac apex, with systolic flow murmur; Austin-Flint
murmur (a mid-diastolic rumbling murmur at the apex); S3 in early LV decompensation; systolic and diastolic
thrill/murmur heard over the femoral artery. Murmurs are increased by squatting or leg lifting, and decreased by
standing or Valsalva maneuver.
3. Chronic AR is staged as “A, B, and C” according to valve anatomy and hemodynamics, hemodynamic
consequences, and symptoms.
2. Lab diagnosis:
(1) Echocardiogram is diagnostic by showing a dilated LV and aorta, volume overload, and fluttering of anterior
mitral valve leaflet.
(2) Others: ECG may show LV hypertrophy, often with narrow deep Q-waves in left precordial leads. CXR may
show LV and aortic dilation.
Differential diagnosis
Mitral stenosis and aortic stenosis: See above.
Pulmonic regurgitation:
Typical diastolic murmur, usually with pulmonary hypertension due to mitral stenosis or with right-to-left cardiac
shunt; compensated RV enlargement; no peripheral manifestations of AR.
Patent ductus arteriosus:
Typical continued systole and diastole murmur with peak at S2, whereas systolic ejection murmur with AR usually
peaks in midsystole. Angiography or cardiac catheterisation shows L-to-R shunt.
Treatment
1. For acute AR: Emergent aortic valve replacement or repair is performed. If there is any delay in surgery,
temporary stabilization is attempted in ICU using IV vasodilators (nitroprusside) to reduce afterload, and possibly
adding inotropic agents (dobutamine, digitalis) to lower LV end-diastolic pressure.
2. Medical treatment for chronic AR: Reduction in preload and afterload —Valsalva maneuver, salt restriction,
diuresis; nitroglycerin, vasodilators.
3. For severe chronic AR: Aortic valve replacement is indicated when symptoms worsen or ejection fraction (EF)
is decreased, and endocarditis prophylaxis is needed.
Tricuspid Stenosis (TS)
Tricuspid stenosis is characterized by right-sided heart failure. It is usually rheumatic in origin but carcinoid
syndrome and tricuspid surgery are the more common causes in the US. Female has the predominance. TS rarely
occurs as an isolated lesion; it is often accompanied by tricuspid regurgitation and associated with mitral valve
disease or/and the aortic valve.
Essentials of diagnosis
1. History of rheumatic fever, carcinoid disease, or cardiac surgery.
2. Typical manifestations of right heart failure: JVD, hepatomegaly, ascites, and dependent edema; giant a wave
in the JVP (pressure); typical diastolic rumble along the lower left sternal border (mimicking mitral stenosis)
3. Lab tests: ECG reveals RA enlargement without atrial fibrillation. CXR shows marked cardiomegaly with a
normal PA size. Echocardiography/Doppler confirms diagnosis. Mean valve gradient > 5 mm Hg by Echo
indicates severe stenosis.
Treatment
1. Diuretics are the main treatment to reduce symptoms associated with the fluid congestion.
2. When the stenosis progresses causing right heart failure, the most effective and definitive treatment is tricuspid
valve repair or replacement (by a bioprosthetic valve) or balloon valvotomy. The tricuspid valve replacement is
often combined with mitral valve replacement if it’s also with stenosis.
Tricuspid Regurgitation (TR)
TR frequently occurs in patients with pulmonary or cardiac disease with pressure or volume overload on the right
ventricle (RV dilation). Thus TR is commonly functional.
Etiology includes pulmonary hypertension, MI, endocarditis, left heart failure, RV dysplasia, sarcoidosis, Ebstein
anomaly, and tricuspid valve prolapse or injury. These can all result in RV dilation and TR, which in turn worsens
the severity of the regurgitation.
Essentials of diagnosis
1. History of a pulmonary or cardiac disease/lesion (as above) associated with RV dilation.
2. Similar manifestations of right heart failure as in tricuspid stenosis: JVD, hepatomegaly, ascites, and dependent
edema; a holosystolic TR murmur may be audible along left sternal border, which increases with inspiration.
3. Lab tests: CXR may show an enlarged RA and pleural effusion. Echocardiography confirms the diagnosis with
severity of the TR (low- or high-pressure TR), the RV size and RV function.
Treatment
1. Mild TR is common and usually well tolerated, and can be managed with diuretics (to reduce the fluid
congestion).
2. Surgery: When feasible, tricuspid valve repair is generally preferred to valve replacement. However, repair is
associated with significant risk of recurrent TR. Definitive treatment requires elimination of the cause of the TR.
With progressive right heart failure, tricuspid valve replacement is indicated.
Pulmonary Stenosis (PS)
It is the stenosis of the pulmonary valve or RV infundibulum, which increases the resistance to RV outflow and RV
pressure, and decrease pulmonary blood flow. It is often congenital and associated with other cardiac lesions.
Essentials of diagnosis
1. Asymptomatic until the lesion is at least moderate. Severe cases may present with right-sided heart failure.
2. There is a high-pitched systolic ejection murmur maximal in the second left interspace and radiating to the
shoulder. P2 is delayed and soft or absent. Ejection click often exists and decreases with inspiration—the only right
heart auscultatory sign with this condition (all other ejection clicks increase with inspiration).
3. CXR and ECG may reveal enlarged right ventricle. 2-D echocardiogram confirms diagnosis by visualization of
the valve stenosis.
4. Patients with peak pulmonic valve gradients > 60 mmHg or mean of 40 mmHg by echocardiography or Doppler
should undergo intervention regardless of symptoms.
Treatment
A domed pulmonary valve stenosis (most cases) can be treated by balloon valvuloplasty, while a dysplastic
pulmonary valve (with severe stenosis) usually requires surgery. Dynamic RV outflow obstruction may occur after
surgical or percutaneous treatment and tends to regress with time.
Pulmonic Regurgitation (PR)
It is pulmonary valve regurgitation. Most cases are due to pulmonary hypertension (high-pressure PR) or surgical
injury for treating RV outflow obstruction (low-pressure PR). Other “low-pressure” causes include a dilated
pulmonary annulus, congenital bicuspid/dysplastic pulmonary valve, or carcinoid plaque.
Essentials of diagnosis
1. In high-pressure PR, the pulmonary diastolic murmur is readily audible, which is increased with inspiration and
diminishes with the Valsalva maneuver. In low-pressure PR, there are rarely murmur and abnormal
echocardiography/Doppler findings.
2. Echocardiography is definitive in diagnosis of high-pressure PR but may be less definitive in low-pressure PR.
Treatment
1. In high-pressure PR: Target primary cause—pulmonary hypertension because it’s poorly tolerated by the patient.
2. Low-pressure PR is usually tolerated by the patient and rarely requires treatment. Exercise and pregnancy are not
interdicted.
3. Pulmonary valve replacement is indicated with (1) symptomatic, severe PR; (2) right ventricular enlargement
and/or dysfunction; (3) PR plus progressive tricuspid valve regurgitation.
Untreated severe PR will result in right ventricular enlargement, systolic dysfunction, arrhythmia, and death.
CONGENITAL HEART DISEASES
The prevalence is less than 1% among live births. Most diagnoses can usually be made in early life, although initial
murmurs and symptoms may not be noticeable. Etiology is unknown. Intrauterine risk factors include teratogens
(maternal alcohol and drug use), congenital infections (rubella, etc), and genetic diseases (Down syndrome, Marfan
syndrome, etc).
Classification
1. By shunting:
(1) Right to left—cyanotic (mnemonics: “4T-blue baby”): Tetralogy of Fallot, Transposition of the great arteries
(TGA), Tricuspid atresia, and Truncus arteriosus (mixing shunts). Deoxygenated blood is shunted into the systemic
circulation, causing serious cyanosis.
(2) Left to right—noncyanotic (Memo: “Late blue child”; “VAP”): Ventricular septal defect, Atrial septal defect,
and Patent ductus. Oxygenated blood from the lungs is shunted back into the pulmonary circulation, with late and
mild cyanosis.
2. By stenosis: Aortic stenosis, pulmonic stenosis, and coarctation.
V. Unclassified Cardiomyopathies
These include cardiomyopathies that do not readily fit into any of the above phenotypic categories, such as LV
noncompaction, stress-induced (takotsubo) cardiomyopathy, and cirrhotic cardiomyopathy.
Left ventricular noncompaction
Also called isolated ventricular noncompaction, it is a rare cardiomyopathy with an altered myocardial wall due to
intrauterine arrest of compaction of the loose interwoven meshwork. When the LV noncompaction is severe, it may
cause ventricular arrhythmias, heart failure, and thromboembolism. Treatment varies with the clinical
manifestations.
Stress-induced cardiomyopathy
Also called apical ballooning syndrome, broken heart syndrome, and takotsubo cardiomyopathy, it is characterized
by transient systolic dysfunction of the apical and/or mid segments of the LV that is often provoked by stress. This
disorder is generally transient and only in need of supportive therapy.
Cirrhotic cardiomyopathy
While alcoholic cardiomyopathy is one cause of heart disease in patients with cirrhosis, cirrhosis is found to be
associated with myocardial dysfunction independent of alcohol exposure. The pathophysiology remains unclear.
Treatment is focused on supportive care of the cardiomyopathy and cirrhosis, and their complications.
PERICARDIAL DISEASES
Acute Pericarditis
It’s the inflammation of the pericardial lining around the heart.
Etiology
1. Idiopathic (Dressler syndrome, postviral infections, etc.).
2. Infection (viruses, bacteria, fungi, toxoplasmosis), connective tissue and autoimmune diseases (vasculitis, SLE,
rheumatoid arthritis, scleroderma, sarcoidosis), metabolic diseases, neoplasm, trauma, and drug reactions (lupus
syndrome), radiation, etc.
Essentials of diagnosis
1. Patient typically has positional, substernal chest pain that is worsened by lying down, coughing and deep
inspiration, and relieved by sitting up and leaning forward. Fever and nonproductive cough may be present.
2. Characteristic pericardial friction rub (diagnostic of pericarditis)—a high-pitched, scratchy sound, usually
transient and best heard as the patient sits forward at forced-end expiration. The ventricular systole sound is present
more consistently.
3. ECG: It’s helpful in diagnosis, usually revealing a diffuse ST-elevation with upright T waves and PR depression
at the onset of chest pain, but no Q-wave (different from MI). Echocardiography is often normal but abnormal if
pericarditis with effusion is present.
Treatment
For most acute idiopathic or viral pericarditis, colchicine plus NSAIDs (ibuprofen) is recommended. For post-MI
and most pericarditis, aspirin plus colchicine is the mainstay of therapy. Treat underlying cause if known
(including drainage of a pericardial effusion). Most cases are self-limited, resolving in 2-6 weeks.
Pericardial Effusion
Etiology and pathogenesis
Fluid may accumulate in the pericardial cavity in pericarditis and other forms of pericardial diseases.
1. A transudate indicates pericardial injury, and an exudate reflects inflammation.
2. Serosanguineous pericardial fluid is typically from TB or neoplasm.
3. Hemopericardium may be from aortic aneurysm rupture, aortic dissection, post-MI Ventr-rupture, severe chest
trauma, or bleeding by coagulopathy. When fluid accumulates rapidly, it compresses the heart and inhibits cardiac
filling, resulting in life-threatening cardiac tamponade.
Lab diagnosis
1. Echocardiography is the most sensitive and specific means of diagnosis, which can display > 20mL of fluid).
2. CXR can show a “water-bottle” configuration of the cardiac silhouette (>250 mL of fluid).
Treatment
1. If the effusion is small and clinically insignificant, a repeated echocardiography in 1-2 weeks is appropriate
following etiologic therapies.
2. Patients with a significant pericardial effusion and evidence of hemodynamic compromise (E.g., cardiac
tamponade) should undergo urgent drainage of the effusion.
Cardiac Tamponade
It’s a life-threatening condition in which a pericardial effusion has developed so rapidly and largely that it
compresses the heart, leading to decreased ventricular filling and cardiac output.
Etiology: It’s mostly the same as for acute pericarditis and pericardial effusion.
Essentials of diagnosis
1. Patient typically has dyspnea, orthopnea, pulsus paradoxus (marked weakening pulses during inspiration),
hypotension, JVD with clear lung, and decreased heart sounds. Paradoxical pulse is not diagnostic of cardiac
tamponade and can occur in severe CHF, chronic pulmonary disease, acute asthma, and certain hypovolemic shock.
2. Echocardiogram (must be performed) and cardiac catheterisation will confirm tamponade and equal pressure of
the left and right atrium.
Treatment
Perform emergent pericardiocentesis and drainage to save life! If symptoms persist, perform subxiphoid surgical
drainage.
Constrictive Pericarditis
Etiology and pathogenesis
Constrictive Pericarditis is diffuse fibrous scarring and thickening of the pericardium in reaction to prior
inflammation, leading to obliteration of the pericardial cavity and reduced distensibility of the cardiac chambers and
diastolic filling. Cardiac output is limited and filling pressures are increased to match the external constrictive force
placed on the heart by the pericardium. The heart size is usually normal. The cause in most cases is idiopathic.
Others include viruses, TB, chronic pericardial effusion, uremia, connective tissue diseases, heart surgery, and
thoracic radiation.
Essentials of diagnosis
1. Most patients appear very ill. Initial manifestations are secondary to increased systemic venous pressure—edema,
ascites, hepatomegaly, JVD, and Kussmaul sign. Later, patients usually have dyspnea on exertion and orthopnea.
P/E usually finds distant heart sounds and “pericardial knock”, which can be confused with an S3 gallop.
2. Lab diagnosis:
(1) ECG: Low-voltage and non-specific T-wave changes. Atrial fibrillation may occur in some patients.
(2) Chest CT or MRI scan: May show thickened pericardium, and pericardial calcifications (TB).
(3) Cardiac catheterization: A marked ‘y’ descent with the right atrial pressure tracing. Left and right ventricular
pressure tracings may show a typical “square root” sign. The end-diastolic pressures in all four chambers and the
pulmonary arteries are about the same.
Differential diagnosis
Restrictive and constrictive cardiomyopathy:
Left ventricular ejection fraction is more likely to be decreased in patients with restrictive cardiomyopathy. CT can
effectively demonstrate the thickened pericardium. Differentiation can be difficult sometimes.
Treatment
Most newly diagnosed cases are initially treated conservatively with Na-restriction, mild diuretics, NSAIDs,
steroids, or/and antibiotics, etc. Pericardiectomy or resection may be performed in chronic, severe cases as the
definitive therapy. However, the mortality rate is high.
VASCULAR DISEASES
Aortic Dissection
It’s a transverse tear in the intima of the aorta, leading blood into the media and creating a false lumen and a
hematoma that propagates longitudinally. Longstanding hypertension is the major risk factor. Other predisposing
factors include trauma, connective tissue diseases (Marfan and Ehlers-Danlos syndrome), bicuspid aortic valve,
coarctation of the aorta, etc. The most common site of origin is above the aortic valve and distal to the left
subclavian artery. It’s more common in 50-60 y/o men.
Essentials of diagnosis
1. Sudden, severe, tearing pain in the anterior chest (in ascending aorta dissection) or interscapular back pain
(descending aorta dissection), accompanied with diaphoresis.
2. P/E results are usually asymmetric pulses and BP (difference > 20 mmHg) between the left and right arm. BP
is mostly hypertensive. If it is hypotensive, pericardial tamponade (with pulsus paradoxus, decreased heart sound
and JVD), acute MI from coronary ischemia (see “MI” for the symptoms), or hypovolemic shock from blood loss
should be suspected. If the aorta valve is involved, signs and murmur of aorta regurgitation may exist. Neurologic
signs may exist if carotid artery is obstructed.
3. Lab diagnosis:
(1) CXR shows widened mediastinum (usually >8 mm), cardiomegaly, or new pleural effusion.
(2) CT angiography is the most accurate means of diagnosis to show details of the dissection, if the patient is stable
and confirmation is required.
(3) TEE is also sensitive and specific, showing details of the thoracic aorta, coronary arteries, aortic valve, and
possible pericardial effusion. Serum biomarker D-dimer (increase) indicates recent or ongoing intravascular blood
coagulation and possible acute aortic dissection.
4. There are two classification systems:
(1) Stanford system: Ascending aorta dissection is Type A, and all others are Type B.
(2) DeBakey system: Type I—dissection involving both the ascending and descending aorta; Type II—confined to
the ascending aorta; Type III—confined to the descending aorta.
Differential diagnosis
Myocardial ischemia, pericarditis, pulmonary embolus, aortic regurgitation/aneurysm without dissection,
musculoskeletal pain, pleuritis, and digestive disorders.
Treatment
1. For the life-threatening ascending aorta dissection, an emergent surgical repair is indicated.
2. For descending aorta dissection, BP and heart rate monitoring and control are needed. IV beta-blockers are given
to reduce cardiac rate and force, and nitroprusside-Na to lower BP below 120 mmHg.
Aortic Aneurisms (AA)
AA is a localized dilation of the aorta, and the most common one is abdominal AA (AAA) secondary to
atherosclerosis or hypertension, which causes local aorta wall weakness and dilation. Other causes include high
cholesterol, family history, smoking, trauma, infection (No.1 is syphilis), congenital weakness (Marfan syndrome),
or elder men. Most AAAs occur between the renal arteries and iliac bifurcation. The incidence increases with age
and more common in men.
Essentials of diagnosis
1. It’s usually asymptomatic and discovered incidentally on P/E or radiologic imaging.
2. It can be symptomatic, with “sense of fullness”, severe or boring low back pain or flank pain radiating into the
testis or leg. It may be confused with other back/flank pain. P/E mostly reveals a pulsatile abdominal mass or
abdominal bruit +/- tenderness. Symptoms suggest expansion and impending rupture.
3. Ruptured AA: Acute, severe chest or abdominal pain, hypotension, shock, or MI. For an AAA rupture, Grey
Turner’s sign (ecchymoses on back and flanks, Image 41) and Cullen’s sign (ecchymoses around umbilicus) may
be seen.
4. Lab diagnosis:
(1) Ultrasound is usually the initial diagnostic tool.
(2) CT or aortography with contrast is the most accurate and confirmative means of diagnosis.
(3) Plain X-ray often picks up an AA accidentally with aortic wall calcification.
Treatment
1. Symptomatic patients should be hospitalized and prepared for surgical fixing. Ruptured AA or impending rupture
requires IV fluid and packed RBC followed by an emergent operation to save life.
2. Asymptomatic, < 5 cm AA may be monitored for size changes and BP control (using beta blockers) as an
outpatient; > 5 cm (ascending) or > 6 cm (descending) AA should be electively repaired (by surgical resection with
grafting). CVS status evaluation is required prior to surgery.
Peripheral Vascular Diseases (PVD)
It refers to reduction or occlusion of the blood supply to the extremities caused by atherosclerotic plaques (#1),
thrombosis, embolism, or trauma. Chronic, insufficient blood supply to the affected area leads to ischemic pain and
mostly affects the lower extremity, which is called intermittent claudication. Acute ischemic symptoms are usually
caused by embolism from the heart. Symptoms depend on the vessel and extent involved.
Essentials of diagnosis
1. Most patients have risk factors and history of atherosclerosis (hyperlipidemia, hypertension, smoking, diabetes,
lack of exercise), CAD, and intermittent claudication. The claudication can be relieved by exercise cessation or
worsened by obstruction, leading to rest pain.
2. P/E are typically “5Ps”—“Pain, Pallor, Pulseless, Paresthesia, Paralysis”. Others are cool skin and hair loss.
ABI (ankle-brachial index) measures the ankle-brachial systolic BP and provides objective evidence of obstruction.
When ABI is < 0.4, ischemia is severe enough to cause rest pain.
3. Two common types:
(1) Femoropopliteal obstruction: With calf claudication but no pulses below the femoral artery.
(2) Aortoiliac obstruction: Associated with Leriche syndrome—decreased femoral pulses, buttock claudication,
and male impotence.
4. Lab diagnosis:
(1) Initial ultrasound may show decreased blood flow due to the obstruction.
(2) The best diagnostic means is angiography, which will demonstrate the area and severity of stenosis necessary
for surgical consideration.
Treatment
1. Most patients with claudication will improve with smoking cessation (highly important), diet modification, and
gradual exercise program (mainly targeting lipid reduction), as well as control of the underlying disease. Aspirin or
clopidogrel and thromboxane inhibitor also help reduce incidences.
2. Surgical treatment: Indications include rest pain, ischemic ulcerations (tissue necrosis), and severe symptoms
refractory to conservative therapies that affect quality of life or work. Usually angioplasty (with patient’s saphenous
vein), stenting, or bypass grafting can be chosen. If the limb can’t be saved by angioplasty, amputation is the last
option.
Deep Venous Thrombosis (DVT)
See “RESPIRATORY DISEASES: PE-DVT”.
Virchow’s triad factors for venous thrombosis:
Stasis, endothelial injury, and hypercoagulable states. See Images 42 for DVT.
Eisenmenger Syndrome (ES)
ES is a disorder of gradual right-to-left shunt, the triad of systemic-to-pulmonary shunt, pulmonary hypertension,
and cyanosis. It usually develops in a patient with a ventricular septal defect and significant left-to-right shunting
that eventually leads to pulmonary hypertension. Severe pulmonary hypertension eventually reverses the shunting to
“right-to-left”.
Diagnosis: P/E generally finds central cyanosis, digital clubbing, RV impulse, and a load or palpable P2 sound. The
prognosis is better than those with pulmonary hypertension who have similar hemodynamics. Echocardiography is
confirmative.
Management: Most evaluations and treatment of ES should be performed in a center with expertise in managing
cardiac catheterization, the congenital heart disease, and pulmonary hypertension. Heart or/and lung transplantation
may be the last treatment option for severe ES.
VASCULITIS SYNDROMES
3-9: Match the following clinical scenarios with the best initial treatment.
A. Amiodarone
B. Atropine
C. Lidocaine
D. Verapamil
E. Propranolol
F. Procainamide
G. Digoxin
H. Aspirin
I. Synchronized cardioversion
J. Ventr-pacemaker
K. Unsynchronized cardioversion
L. t-PA
M. Metoprolol
N. Heparin
O. Warfarin
P. Morphine
3. A 55 y/o man complains of periodic palpitations and lightheadedness after an acute myocardial infarction (MI) two weeks ago. P/E
finds stable vital signs. ECG reveals wide QRS and inverted T waves in V5-6 leads. Other findings are unremarkable.
4. A 55 y/o man with chronic heart disease complains of occasional palpitations, lightheadedness, and syncope. P/E finds a fast pulse
with stable vital signs. ECG reveals an atrial rate of 300/min and a ventricular rate of 150/min. QRS waves are regular and P-waves are
in a “sawtooth” pattern.
5. A 55 y/o man complains of frequent palpitations, lightheadedness, and syncope after an acute MI 2 weeks ago. He is brought to the ER
after a syncopal episode. P/E results: HR = 120/min; BP = 90/50 mmHg. ECG reveals a ventricular rate of 130/min, wide bizarre QRS
with regular rhythms and A-V dissociation.
6. A 50 y/o female complains of frequent palpitations, lightheadedness, and syncope for the past 3 days. She has a 5-year history of
chronic cardiomyopathy. P/E finds HR = 130/min, BP = 90/60 mmHg. ECG reveals ventricular rate = 150/min, short PR intervals and
wide, slurred QRS (delta wave).
7. A 35 y/o female complains of frequent palpitations, dizziness, and syncope for the past 3 days. She has a congenital hearing deficit.
P/E finds HR = 120/min, BP = 90/60 mmHg. Serum K and Mg levels are low. ECG reveals ventricular rate = 130/min, QRS rotations,
and prolonged QT.
8. A 50 y/o man with SOB and crushing chest pain for 3 hours is brought to the ER. He has a history of hypertension, smoking, and
alcohol use for the past 10 years. P/E finds a weak pulse of 120/min, labored breathing at 24/min, BP of 90/60 mmHg, and an S3 gallop.
ECG shows ST-elevation in leads II, III, and aVF. Lab tests show normal CBC, CK-MB, troponin, LDH, and CXR.
9. The above patient’s symptoms were relieved within one week of Tx. One month later he presents with milder chest pain. P/E finds
normal (Nl) vital signs except a transient high-pitched, scratchy sound over the heart. ECG reveals a diffuse ST-elevation without Q-
waves.
10. A 50 y/o man with a 10-year history of smoking comes to the physician for a health exam. He has no history of CAD or other
diseases except chronic bronchitis with productive cough and sputum. P/E finds rough respiratory sound and Nl vital signs. CXR shows
increased tracks in both lungs. CBC is Nl. His random total Chol is 220, HDL is 40, and LDL is 140 (mg/dL). The best next step is
A. 3-month diet and exercise plan
B. giving lovastatin
C. smoking cessation
D. giving gemfibrozil
E. lipid re-testing in a month
11. A 60 y/o man with a 3-month history of dyspnea on exertion and ankle edema complains of orthopnea and coughing up pink sputum
for 1 hour. He has a history of smoking, hypertension (HTN) and diabetes (DM) for the past 2 years and is on “intermittent oral drugs”
for HTN and DM. P/E finds HR =110/min, BP =150/100 mmHg, with an S3 gallop and JVD. CXR reveals pulmonary congestion,
cardiac enlargement, and Kerley’s B lines. Echocardiogram reveals EF = 45%. Serum glucose is 150 mg/dL. What’s the most
appropriate medicine to use now?
A. Metoprolol
B. Thiazides
C. altace (ramipril)
D. Diltiazem
E. Doxazosin
12. The above patient obtains general relief of symptoms and stable BP of 145/95 mmHg after taking ramipril for 5 days, but now has
oliguria, persistent dry cough and a skin rash. P/E finds a smoothly enlarged prostate and urinary bladder. Urine analysis reveals mild
proteinuria without WBC. 300ml of urine is drained out through a catheter. What’s the best next drug for replacement?
A. Metoprolol
B. Thiazides
C. Valsartan
D. Diltiazem
E. Doxazosin
13. A 30 y/o man has his BP checked in your clinic for the first time and it is 150/95 mmHg. He denies any history of alcohol or drug
use, or chronic diseases. What’s the best next step of diagnosis (Dx)?
A. Abdominal ultrasound
B. Abdominal CT
C. Blood renin and aldosterone level
D. Angiography
E. BP re-testing in 2 weeks
14. The above patient comes back 2 weeks later and the BP is 145/95 mmHg. He has no other symptoms except for a periodic headache
and sweating. P/E only finds a tachycardia. What’s the most appropriate next step now?
A. Abdominal ultrasound
B. Abdominal CT
C. Blood renin and aldosterone test
D. 24-hour urinary VMA test
E. Alpha and beta R blocker use
15. A 65 y/o female complains of low-grade fever, short of breath, cough, joint pain, and generalized weakness for the past 3 days. She
had a dental procedure performed a week ago. P/E finds rough systolic murmur at the apex, tender nodules on fingers, and subungual
petechiae. ESR is increased. CXR shows increased vessel markings in the lungs. Echocardiography and ECG results are unremarkable.
Blood samples are taken for culture and sensitivity (C/S). The best empirical antibiotics to start on this patient is
A. vancomycin
B. nafcillin + gentamicin
C. vancomycin + gentamicin
D. vancomycin + ampicillin
E. nafcillin + gentamicin + ampicillin
16. Ten days later, the above patient is found with culture positive for Staph-aureus and a Gram- rod, persistent fever, increased BUN and
creatinine, and signs of progressive heart failure (HF). What’s the strongest indication for valve replacement surgery for this patient?
A. Staph-aureus culture (+) after antibiotic Tx
B. Persistent fever after antibiotic Tx
C. Gram- rod culture (+) after antibiotic Tx
D. Progressive HF
E. Increased BUN and creatinine
17-22: Match the following clinical scenarios with the best treatment.
A. Conservative Tx
B. Valve commissurotomy
C. Valve replacement
D. Valvuloplasty
E. Diuretic
F. Surgical repair
G. Beta-R blocker
H. Antibiotic
I. Warfarin
J. Digitalis
K. Vascular dilator
17. A 65 y/o man complains of mild chest pain, dyspnea on exertion, and fatigability for the past month. P/E finds normal vital signs, and
a harsh systolic murmur at the apex radiating to the aorta area without late peak and carotid upstrokes. ECG and CXR results are normal.
Echocardiography reveals reduced aortic valve leaflets.
18. A 60 y/o female presents with an abrupt worsening of her chest pain and dyspnea 5 days after being treated for an acute MI. P/E finds
tachypnea, tachycardia, hypotension, and diffuse pulmonary rales. A loud holosystolic murmur is heard at the apex radiating to the left
axilla. CXR shows an enlarged left atrium and increased pulmonary infiltrates. Echocardiography shows prolapsing leaflet.
19. A 30 y/o female complains of lightheadedness, palpitations, and mild chest pain for the past 2 days. P/E finds normal vital signs, and
a thin woman with long limbs. Auscultation reveals mid-systolic click and a late systolic murmur at the cardiac apex, getting worse with
Valsalva and improving with squatting. Echocardiography confirms the diagnosis.
20. A 30 y/o man presents with fatigue, periodic chest pain, and dyspnea on exertion for the past 3 days. P/E finds a systolic murmur on
the left sternal border between the 3-4th rib without radiation, increased with Valsalva maneuver, and decreased with squatting and
handgrip. Echocardiography confirms the diagnosis.
21. A 55 y/o man has been treated for an acute MI (anterior infarct) for the past 3 days, and has an abrupt worsening of chest pain. P/E
finds tachypnea, tachycardia, hypotension, and a loud holosystolic murmur at the cardiac apex with widespread radiation.
Echocardiography confirms the diagnosis.
22. A 40 y/o female has fever, skin rash and migrant polyarthritis for a week followed by gradual dyspnea, orthopnea, and fatigability.
P/E shows mild tachycardia and fever, normal BP, erythematous skin nodules, and a low-pitched apical diastolic rumble with loud S1.
CXR shows mild increase in pulmonary vessel markings. CXR shows mild increase in pulmonary vessel markings. CBC is normal. ESR
is increased. Aspirin has been used. She is scheduled for an echocardiography and arterial catheterization for diagnosis.
23. A 25 y/o man comes for a health check-up due to prolonged palpitations, chest pain, and dyspnea after an exercise program. P/E finds
a man who generally looks in good health with normal vital signs, bifid carotid pulse, and a systolic murmur with thrill at the cardiac
apex. What’s the most important next step for diagnosis?
A. Echocardiography
B. ECG
C. CXR
D. Cardiac catheterization
E. Obtaining detailed history
24. A 50 y/o female presents with progressive weakness, dyspnea, and exercise intolerance for the past 3 days. P/E finds normal BP,
JVD, S4 and S3 gallop, and ankle edema. ECG reveals low voltage, A-V block, and Q-waves. Echocardiography reveals thickened
pericardium. CXR shows mild cardiomegaly and pulmonary congestion. Among the following causes, which one is the LEAST likely?
A. Alcohol and lipids
B. Hemochromatosis
C. Sarcoidosis
D. Endomyocardial fibrosis
E. Becker disease
25. A 60 y/o man presents with boring low back pain radiating down to the legs for the past 2 days. He has a 3-year history of
hyperlipidemia and is on lovastatin. P/E finds normal vital signs and a pulsatile abdominal mass with bruits without tenderness. Blood
tests reveal mild hyperlipidemia. Urine analysis (U/A) is normal. What’s the most appropriate next step?
A. Abdominal ultrasound
B. Abdominal CT
C. Angiography
D. Abdominal X-ray
E. Abdominal MRI
26. A 50 y/o man presents with a month history of exercise intolerance and leg pain after more than 30 min walking. Symptoms are
alleviated with rest. He has no history of alcohol use, smoking, drug use, or recent health evaluation. His wife complains of “too little
sexual life.” His family life is otherwise fine. P/E finds normal vital signs, pale and hairless legs, and weak femoral and ankle pulses.
Ultrasound of the lower body is unremarkable. What’s the most likely cause of his sexual problem?
A. Psycho-social factors
B. Atherosclerosis
C. Thrombosis
D. Embolism
E. Trauma
27. A 25 y/o man is brought to the ER by his friend for pressing chest pain and short of breath for a few hours after a fight. He denies any
history of smoking, alcohol, drug use, and medical problems. He briefly mentions that both his parents have “heart disease.” P/E results:
pale, dyspneic, and diaphoretic; BP = 180/100 mmHg, HR = 120/min. He is irritable and aggressive, with dilated pupils. ABG is normal
on room air. ECG shows acute ST-segment elevations in the anterolateral leads. What’s the most likely cause for his conditions?
A. Alcoholic cardiomyopathy
B. Cardiac contusion
C. Pheochromocytoma
D. MI
E. Drug overdose
28. A 60 y/o man is brought to the ER with nausea and crushing chest pain radiating down the left arm after a big meal an hr ago. He
feels an “impending doom” to come. He has a history of smoking, alcohol drinking, GERD, hypertension, and high cholesterol for
several years. P/E results: Alert, pale, RR = 27/min, HR = 105/min, BP = 77/55 mmHg on both arms, T = 37.5oC, and ABG = 96% on
room air. Neck shows JVD and lungs are (-) on auscultation. ECG reveals ST-elevations in the leads II, III, and aVF. CK-MB and
troponin are (+). What’s the best explanation for these findings?
A. Acute GERD
B. Diastolic heart failure
C. Acute mitral regurgitation
D. Left-ventr infarction
E. Right-ventr infarction
F. Acute aorta dissection
29. A 60 y/o man has progressive, unstable angina that is resistant to regular medical Tx. His uncle died of heart attacks before the age
of 50. He has a 10-year history of moderate smoking, alcohol drinking, and hyperlipidemia. Cardiac catheterization demonstrates about
70% occlusion of three coronary arteries. His left ventricular EF (ejection fraction) is 50%. Which of the following is the best therapy for
this man?
A. Triple coronary bypass surgery using vessel grafts
B. Angioplasty and stenting of all three arteries
C. Intensive medical Tx until EF < 40%
D. Intensive medical Tx until his artery occlusion > 80% for surgical revascularization
E. Bypass surgery for the two main coronary arteries now
30. A 60 y/o man with prolonged hypertension presents with progressive short of breath at rest and at night in bed, and bilateral ankle
swelling. P/E results are: RR = 22/min, HR = 85/min, BP = 120/80 mmHg; JVD (+), bilateral ankle edema (+), cardiac S3 gallop (+),
bilateral lung crackles (+). CXR reveals an enlarged heart image and bilateral pulmonary edema. Among the following medicines used in
this patient, which one does NOT show decrease in the mortality?
A. Aspirin
B. Digoxin
C. Captopril
D. Valsartan
E. Spironolactone
F. Hydralazine
31. A 30 y/o female is brought to the ER with sharp, shearing chest pain radiating to her mid back. It started 30 min ago and is still
continuing. She is tall, thin, and generally healthy except for “occasional hypertension.” P/E results: RR = 25/min, HR = 102/min, BP =
180/105 mmHg in the right arm and 140/95 mmHg in the left arm. Cardiac exam shows a blowing diastolic murmur best heard at the
right upper sternal border. ECG reveals sinus tachycardia and normal QRS-ST waves. CXR, CT scan, and angiography all seem normal.
What’s the best diagnostic test next?
A. Cardiac enzymes
B. Transesophageal echocardiogram (TEE)
C. Repeat chest CT scan
D. Repeat angiography
E. Chest MRI scan
32. A 30 y/o female comes to you for an evaluation before planning a pregnancy. She is generally active and healthy without any
personal or family history of heart disease. She exercises often and feels well. P/E finds P = 85/min, normal BP, S1, and S2, a mid-
diastolic rumbling murmur; the lungs are (-). CXR is normal. Echocardiogram reveals mild mitral stenosis and the left atrium
enlargement; the left-ventr cavity size and systolic function are normal. Her blood glucose level is normal. Based on this information,
what’s your best advice to the patient?
A. She should avoid pregnancy because of her risky heart conditions
B. She can start pregnancy now
C. She should start a beta-R blocker before pregnancy
D. She needs an exercise stress test to evaluate the risk
E. She needs a prophylactic mitral balloon valvotomy before pregnancy
33. You are asked to review and decide antimicrobial prophylaxis for multiple cases of infective endocarditis. Which of the following
cases is most likely to benefit from antimicrobial prophylaxis?
A. A 65 y/o man with aortic stenosis that is scheduled for a cardiac catheterization
B. A 45 y/o man with mitral stenosis that is scheduled for an esophageal dilatation
C. A 65 y/o man with mitral regurgitation that is scheduled for an esophageal endoscopy
D. A 45 y/o man with mitral stenosis that is scheduled for a TEE
E. A 35 y/o woman with mitral regurgitation that is scheduled for a hysterectomy
34. A 40 y/o man comes from the poor countryside presenting with progressive dyspnea on exertion, chronic cough, and chest pain for
the past month. He denies any history of chronic diseases and present medication ingestion, except for a 4-kg weight loss over the past 2
months. P/E results: normal vital signs, low fever, and a cachectic appearance; the lungs are (-); JVD is (+) and alleviated with deep
inspiration; S1 and S2 heart sounds are distant, with an early S3; the liver is enlarged. ECG shows low voltages without ST-elevation.
CXR reveals an enlarged heart. What’s the most likely diagnosis?
A. Tamponade
B. Congestive cardiomyopathy
C. Constrictive pericarditis
D. Restrictive cardiomyopathy
E. Right ventricular infarction
35. A 50 y/o administrative man comes to you for a health evaluation. He has a 5-year history of heavy smoking (1 pack/day) and
alcohol drinking (> 5 cups/day). He also has a family history of hypertension and diabetes. He rarely goes to a physician for health
examinations. P/E finds BP = 144/94 mmHg at rest, body weight = 70 kg, height = 1.65 meters. There are no other abnormal findings.
What’s your best advice for him to reduce the high BP?
A. Cut down alcohol drinking
B. Stop smoking
C. Reduce weight
D. Do regular exercise
E. Reduce work stress
36. A 65 y/o man complains of “crushing chest pain” radiating to the left arm and is brought to the emergency room. He also has anxiety,
sweating, and nausea. His vital signs are stable. He has a history of diabetes mellitus. In the P/E, the physician will most likely find
A. a displaced point of maximal impulse (PMI)
B. S4 gallops
C. continuous “machinery” murmurs
D. triphasic scratchy sounds
E. increased jugular venous pressure on inhalation
37-38. 37. A 60 y/o woman presents with dyspnea, cough with pink sputum, and pressure-like chest pain for the past 3 months. P/E finds
cyanosis, RR = 36/min, HR = 110/min, BP = 180/118 mmHg, PMI shift to the left, wet rales, and S3 gallops over the apex at
auscultation. CXR and ECG confirm the diagnosis. The best immediate treatment is
A. metoprolol
B. nitroprusside
C. furosemide
D. valsartan
E. digoxin
F. nifedipine
38. The most likely cause of death for the above patient will be
A. myocardial infarction
B. myocardial rupture
C. pulmonary edema
D. pulmonary emboli
E. cardiac emboli
F. cardiac arrhythmia
39-42: Match the following clinical scenarios with the most likely Dx.
A. Ventricular septal Defect (VSD)
B. Atrial septal Defect (ASD)
C. Patent ductus arteriosus (PDA)
D. Coarctation of the aorta (CA)
E. Tetralogy of Fallot (TF)
F. Kartagener syndrome (KS)
G. Persistent truncus arteriosus (PTA)
H. Tricuspid atresia (TA)
I. Hypoplastic left heart syndrome
J. Transposition of the great arteries (TGA)
39. A 3 y/o boy is brought to the clinic for fatigue and frequent respiratory infections. The mother has a 5-year history of alcohol use and
smoking before the pregnancy. P/E finds a weak, alert boy without cyanosis. A wide, split S2 and systolic ejection murmur is heard at the
upper left sternal border. ECG reveals RVH. Echocardiography is ordered.
40. A 13 y/o girl is brought to the clinic for delayed development, fatigue, headache, and periodic syncope. P/E finds a pale girl with a
short stature and tachycardia; no cyanosis. Systolic BP is higher in the right arm than in the left. ECG reveals LVH. CXR shows a
“reverse 3” sign and pulmonary congestion.
41. A 1-month infant is found with a blue face, dyspnea, and weakness. The mother has a 5-year history of alcohol use and smoking
before pregnancy at age 37. P/E finds a flat face and cyanosis. A systolic ejection murmur is heard at the upper left sternal border with a
single S2. ECG reveals left axis deviation. CXR shows mildly reduced pulmonary vascular markings.
42. A 1-month infant is found with a blue face, dyspnea, and fatigability for the past week. The mother has a 5-year history of alcohol
use and smoking for before pregnancy at age 37. P/E finds a weak infant with cyanosis and a flat facial profile. A systolic ejection
murmur is heard at the upper left sternal border with a single S2. ECG reveals RVH. CXR shows a “boot-shaped” heart with decreased
pulmonary vascular markings.
2. A 60 y/o man is dyspneic 24 hours after a general abdominal surgery. P/E reveals that his HR = 100/min, T = 38.5oC, respiratory rate
(RR) = 22/min with decreased breath sounds in the left lower lobe, and mild redness and tenderness around the surgical cut. WBC is
18,000/uL. What’s the most appropriate next step?
A. IV antibiotics
B. O2 inhalation
C. Anti-inflammation drugs
D. Help patient increase activity level and coughing
E. Explore the surgical cut
3. A 40-y-old man is found to have a 2-cm calcified nodule in the right lower lung on routine CXR. He has never had a previous CXR or
history of smoking, and generally feels well. P/E results are unremarkable. What’s the most appropriate next step?
A. CXR follow-up in 3 months
B. Chest CT scan
C. CT-guided FNA (biopsy)
D. Surgical removal and biopsy
E. TB test
4. A 60 y/o smoker has headache, blurry vision, hypertrophic osteoarthritis, synovitis, and clubbing. P/E shows JVD and deformed joints
in the hands and feet. Lab tests reveal anemia and hyper-Ca. The most appropriate next step is
A. CXR
B. Chest CT with FNA
C. Sputum cytology
D. Bronchoscopy with biopsy
E. Joint fluid analysis
5. A 30 y/o female who has a recent history of asthma with fever and cough comes to the hospital again with progressive wheezing and
shortness of breath for the past week. P/E shows T = 37.5oC, P = 108/min, and RR = 27/min with diffuse wheezing throughout both
lungs without crackles. She has taken inhaled albuterol for the past week and has no history of CVD. What’s the most appropriate next
treatment?
A. Higher albuterol dosage
B. Inhaled steroids + salmeterol
C. IV steroids
D. Zafirlukast (LTD4-R antagonist)
E. Ipratropium (anticholinergic)
6. The above patient has completed a 2-week’s course of high-dose inhaled steroids and salmeterol but still has persistent asthma
symptoms. What’s the most appropriate next treatment now?
A. Higher albuterol dose
B. Higher doses of inhaled steroids and salmeterol
C. Chronic IV steroids
D. Zafirlukast
E. High-dose ipratropium
7. A 30 y/o female is brought to the ER with acute onset of SOB and pleuritic chest pain that occurred while standing from a seated
position. She has never been sick before and takes no drugs except oral contraceptives (OCP). Her RR is 26/min and pulse is 107/min.
Auscultation and other P/E results are unremarkable. CXR is normal. Her ABG shows PO2 = 70 and PCO2 = 35 mmHg on room air.
What’s the most appropriate next step?
A. Close observation and supportive care
B. OCP cessation and exercise program
C. Spiral CT on the chest
D. Continuous heparin and warfarin
E. Thrombolytics
8. A 55 y/o man who has worked for 15 years as a shipyard worker complains of fatigue, exertional dyspnea, shortness of breath, cough
with sputum, and clubbing. He has smoked for 20 years. CXR shows hazy infiltration with calcification and effusions. PFTs demonstrate
a restrictive pattern. What’s the most appropriate next step?
A. Lung biopsy at the opacity site
B. Chest CT scan
C. Bronchoscopy
D. Advice on patient’s change in occupation
E. Advice on patient’s smoking cessation
9. Continued from Q8: What’s the most likely type of pulmonary carcinoma that may be accompanied with this patient?
A. Adenocarcinoma
B. Mesotheliomas
C. Squamous cell carcinoma
D. Small cell lung cancer
E. Large cell carcinoma
10. A 62 y/o man with recurrent and exacerbated COPD is hospitalized for evaluation for lung resection. He has a history of heavy
smoking and alcoholism. His daily activities have been affected by the status of the disease. Which of the following is most useful in the
evaluation for his surgery?
A. Result of exercise testing
B. Arterial PO2 level
C. Arterial PCO2 level
D. Predicted postoperative EFV1
E. PAO2-PaO2 gradient
11. A 55 y/o man comes to the clinic for fever, persistent cough, hemoptysis, foul-smelling purulent sputum and cyanosis for the past
week. He had similar symptoms with sinusitis 2 mo ago and has a 5-year history of smoking. P/E shows low-grade fever, and wheezes
and crackles in both lungs. CXR reveals a 2-cm cyst on each side of the lungs. What’s the most like diagnosis?
A. Chronic bronchitis
B. Bronchiectasis
C. Acute bronchitis
D. Lung cancer with infection
E. Lung abscesses
12. For the same patient in Q11, what’s the most appropriate next step?
A. Sputum cytology
B. Sputum culture and sensitivity
C. PO ceftazidime +/- quinolones
D. IV ceftazidime +/- quinolones
E. CT scan
13. A 35 y/o female comes to the physician with dyspnea on exertion, chest pain, lethargy, fatigue, and lower limb edema for the past
month. She has had an occasional cough for the past month and takes no medicine except an OCP. P/E shows a loud split S2 and a
systolic ejection murmur. CXR shows enlarged central pulmonary arteries. ECG and arterial blood gas (ABG) are ordered. Her RR is
25/min and pulse is 105/min. What’s the most likely diagnosis?
A. Pulmonary embolism
B. CAD with right heart failure
C. COPD
D. Primary pulmonary hypertension (HTN)
E. Secondary pulmonary HTN
14. For Q13, all the following therapies are indicated EXCEPT:
A. O2 supply
B. Vasodilators
C. Anticoagulants
D. Diuretics
E. IV fluid
15. A 40 y/o man has mild fever, non-productive cough, weak vision, painful joints, and nodular erythema on multiple sites for the past 2
weeks. He has a 5-year history of smoking and reports general good health before this episode. PFTs show a restrictive pattern. Lab tests
reveal blood eosinophilia, Hyper-Ca, and hypercalcuria. CXR shows bilateral hilar adenopathy. What’s the most likely diagnosis?
A. Small-cell lung cancer
B. SCC of the lung
C. Sarcoidosis
D. Hyperparathyroidism
E. Gout
16. A 50 y/o man has quit his job as a miner after 2 years of employment because of progressive activity intolerance and dyspnea. P/E
finds finger clubbing and coarse dry crackles on auscultation. PFTs show an obvious restrictive intrapulmonary process. CXR reveals
reticular, nodular lesions (diffuse fibrosis). Chest CT scan shows a “ground-glass” image. What’s the most likely diagnosis?
A. Coal-miner’s lung
B. Asbestosis
C. Idiopathic pulmonary fibrosis (IPF)
D. Silicosis
E. Berylliosis
17. A 55 y/o man comes to the physician because of progressive activity intolerance and dyspnea. He has worked in a glass and pottery
factory for the past 10 years. P/E finds finger clubbing and coarse dry crackles in the upper lobes on auscultation. PFTs show a restrictive
intrapulmonary process. CXR reveals hyaline nodules with calcification. What’s the most likely diagnosis?
A. Coal-miner’s lung
B. Asbestosis
C. Idiopathic pulmonary fibrosis (IPF)
D. Silicosis
E. Berylliosis
18. A 30 y/o female at 30 week’s gestation is brought to the ER with acute onset of dyspnea and pleuritic chest pain that occurred while
she was sitting in the sofa. She has never been sick before. Her respiratory rate is 26/min and HR is 107/min. Auscultation and other P/E
results are unremarkable. CXR is normal. Her ABG shows PO2 = 75 and PCO2 = 35 mmHg. This patient needs:
A. O2 supply and mechanical ventilation
B. O2 supply and LMWH for 6 months
C. Spiral CT on the chest
D. Heparin and warfarin for 6 months
E. Thrombolytics
19. A 50 y/o female undergoes a 6-hour abdominal surgery. On the 3rd day, she develops tachypnea, dyspnea, and chest pain. P/E of the
heart and lungs is unremarkable except for rough respiratory sounds. T = 37.5oC. CXR shows bilateral hazy infiltrates. WBC is 9500/uL
with 1.5% bands. Sputum culture is (-). Mechanical ventilation is used for 8 hours and ABG shows PO2 = 60, PCO2 = 46 mmHg. What’s
the most likely diagnosis?
A. Pneumothorax
B. Atelectasis
C. pulmonary embolism
D. ARDS
E. Pneumonia
20. A 35 y/o man comes to the ER complaining of (c/o) cough with sputum and blood for the past 3 days. He has a 5-year history of
smoking and alcohol use, and had a “cold” 2 weeks ago. P/E shows that he’s cyanotic, with bilateral wheezing on auscultation. Heart
exam and PFTs are normal. Urine analysis (U/A) reveals WBC (-), RBC (+), protein (+), cast (+). Serum creatinine is 3 mg/dL. What’s
the most likely diagnosis?
A. Lung cancer
B. Rapidly progressive glomerulonephritis
C. Granulomatosis with polyangiitis (Wegener granulomatosis)
D. Acute glomerulonephritis
E. Goodpasture syndrome
21. A 12 y/o boy with poor living conditions presents with fever, headache, sore throat, and weakness for the past 5 days, and a cough
with sputum and threads of blood for a day. P/E shows T=38.5oC, erythematous throat, and stable vital signs. CXR reveals bilateral
pulmonary infiltrates of lymph nodes. Urine analysis shows RBC (+) and protein (+). Blood tests show increased lymphocytes. TB skin
testing is (+/-). What’s the most likely diagnosis?
A. Acute pulmonary TB
B. Granulomatosis with polyangiitis
C. Allergic interstitial nephritis
D. Goodpasture syndrome
E. Atypical pneumonia
22-23: Match the following clinical scenarios with the most appropriate next step in diagnosis.
A. Serum Ca level test
B. Sputum cytology
C. CT with FNA
D. Bronchoscopy with biopsy
E. Hyaluronidase level test
F. Endocrine tests
G. Thoracoscopic biopsy with open thoracotomy
22. A 50 y/o man with a 15-year history of smoking and cough presents with increased fatigue and cough with sputum and threads of
blood for a month. CXR reveals multiple infiltrates with cavitary lesions near the bronchi. There are no other abnormal findings.
23. A 55 y/o man with a 10-year history of smoking and asbestos exposure presents with progressive fatigue and cough with sputum and
threads of blood for the past month. CXR reveals multiple infiltrates in the lungs. There are no other abnormal findings.
Previously known as autoimmune chronic active hepatitis, it is a chronic hepatitis characterized by autoimmunologic features
including the presence of circulating autoantibodies and a high serum globulin concentration. Diagnosis: (1) History of autoimmune
disease (ITP, etc.) but no symptoms of liver disease. (2) Enlarged liver-spleen, increased serum LFTs, AKP and proteins but decreased
albumin. ANA and anti-smith are (+). Tx: Immunosuppression: Prednisone +/- azathioprine (not methotrexate). This disease is
usually more severe in children and should be treated promptly with prednisone first. Prognosis: Most patients will recover fully with
treatment.
Granulomatous Hepatitis and Hepatic Granulomas
Both may be caused by drugs (allopurinone and –butazones), sarcoidosis, primary biliary cirrhosis, TB or fungal infection, etc. The
difference is that hepatic granulomas does not imply hepatocellular inflammation. Dx: Liver biopsy. Tx: Immunosuppression
(prednisone +/- methotrexate) +/- antibiotics for suspected infections (e.g., anti-TB therapy should start before immonusuppression).
Prognosis varies.
Hereditary liver diseases: Hemochromatosis, Wilson disease, alpha-antitrypsin deficiency, etc.
Alpha1-antitrypsin deficiency: It’s a rare autosomal recessive disease with alpha 1 -antitrypsin deficiency, leading to chronic
hepatitis, cirrhosis, and emphysema in early adulthood. It accounts for 20% of liver diseases among neonates. Dx: (1) Asymptomatic
transaminase increase in a young patient with emphysema; (2) Absence of alpha-antitrypsin in electrophoresis and low serum alpha 1 -
antitrypsin. Tx: (1) Asymptomatic: regular follow-up with pulmonary function test every 3 months; (2) Symptomatic: alpha-antitrypsin
supplements plus supportive care.
Cirrhosis
It’s defined as irreversible chronic injury of the hepatic parenchyma with significant fibrosis, a complication of liver
disease. Alcohol is the #1 cause of cirrhosis. Other common causes include chronic hepatitis B or C, primary
biliary cirrhosis, primary sclerosing cholangitis, drugs, toxins, hemochromatosis, Wilson disease, and alpha1-
antitrypsin deficiency.
Clinical manifestations depend on the extent of liver damage rather than the cause. Fibrosis and vascular distortion
in the liver lead to portal hypertension, ascites, and varices. Loss of most of the hepatic mass (usually > 70%) causes
signs and symptoms of hepatic decompensation (jaundice, pruritus, signs of upper gastrointestinal bleeding, edema,
spontaneous bacterial peritonitis, and confusion due to hepatic encephalopathy). Physical examination findings may
include jaundice, spider angiomata, gynecomastia, ascites, splenomegaly, palmar erythema, digital clubbing, and
asterixis. Laboratory abnormalities may include elevated serum bilirubin, abnormal aminotransferases, elevated
alkaline phosphatase/gamma-glutamyl transpeptidase, a prolonged prothrombin time/elevated international
normalized ratio (INR) (coagulopathy), hyponatremia, and thrombocytopenia.
Diagnosis is mostly based on clinical manifestations, although a liver biopsy is required for confirmation.
Treatment of cirrhosis includes prevention and treatment of potential complications (usually in late stage): variceal
hemorrhage, ascites, spontaneous bacterial peritonitis, hepatic encephalopathy, hepatorenal syndrome,
hepatopulmonary syndrome, portal vein thrombosis, cardiomyopathy, and hepatocellular carcinoma.
Portal Hypertension
It’s a pathologic condition or complication rather than a disease. A variety of pathologic processes can cause the
portal vein pressure (PVP) > 5 mmHg above the inferior vena cava (IVC) pressure, resulting in ascites, bacterial
peritonitis, esophageal varices, splenomegaly, hepatorenal syndrome, and hepatic encephalopathy. Evaluation
should include LFTs (ALT, AST, AKP, bilirubin, PT/PTT, and albumin) to assess the liver functions. Common
causes:
1. Pre-sinusoidal--portal or splenic vein thrombosis, granulomatosis, or schistosomiasis;
2. Sinusoidal--cirrhosis or granulomatosis;
3. Post-sinusoidal--RHF, constrictive pericarditis, or hepatic vein thrombosis;
4. Budd-Chiari syndrome—Hepatic vein or IVC thrombosis secondary to hypercoagulation status. It requires
treatment with thrombolytics or liver transplantation, with a high mortality.
I. Diverticulosis
It’s the outpouching of colonic mucosa through the muscle layers; maybe due to an increased colonic intraluminal
pressure caused by low fiber diet. It’s most common in sigmoid colon and usually asymptomatic unless complicated
by diverticulitis or hemorrhage. Incidence increases with age.
Essentials of diagnosis
1. LLQ colicky pain and relieved by defecation (painful diverticular syndrome). Patient may also have typical
painless rectal bleeding or hematochezia (melena) —No.1 common complication and cause of lower GI bleeding
in patient > 40 y/a.
2. Colonoscopy or barium enema confirms the diagnosis. A bleeding scan or angiography is indicated if the
hemorrhage is severe.
Treatment
1. Non-bleeding disease: Symptomatic treatment and addition of fiber in the diet (metamucil).
2. Diverticular bleeding: It’s mostly self-limited (75%). If the bleeding is severe, recurrent, or complicated,
angiography with embolization or endoscopic surgery is indicated.
II. Diverticulitis
It’s a complication of diverticulosis and is inflammation and microperforation caused by infection, obstruction,
undigested food or fecalith trapped in the diverticula (mostly sigmoid). It is often associated with segmental colitis.
Essentials of diagnosis
1. LLQ pain, low fever, and a possibly palpable sigmoid mass but no lower GI bleeding.
2. WBC is increased and stool guaiac test is positive.
3. CT is the best means of diagnosis. Sigmoidoscopy and barium enema may increase the risk of perforation and are
only indicated after the acute phase in patients > 50 y/a to rule out colon cancer.
Treatment
1. Bowel rest (no enteric foods) for a day, antibiotics (ciprofloxacin plus metronidazole for 10-14 days), and
hydration. Approximately six weeks after recovery, a colonoscopy should be performed (if not done yet) to evaluate
the extent of the diverticulosis and exclude colonic neoplasia.
2. If a surgical complication is suspected, such as septic colon, obstruction, or fistula, an operation may be
necessary.
NEOPLASMS OF THE INTESTINE
Carcinoid Tumors and Carcinoid Syndrome
Tumors of neuroendocrine origin and may produce serotonin, tryptophan, or tachykinins (substance-P) and thus
cause a set of typical clinical manifestations.
Location: Appendix (the most common local, nonsecreting carcinoid), ileum (the most common “systemic
syndrome”, secreting 5-HT), or bronchi (symptomatic).
Essentials of diagnosis
1. Classic syndrome with tumors of the ileum and bronchi (70% metastatic): intermittent diarrhea, facial flushing,
wheezing, ethanol intolerance, tachycardia, and hypotension. Right heart abnormalities may be present.
2. 24-hour urine collection for 5-HIAA (5-hydroxyindolacetic acid) test confirms the diagnosis. Contrast-enhanced
MRI of the abdomen and pelvis has high sensitivity for metastases.
Treatment
Surgical resection of the involved segment and small bowel mesentery with regional lymphadenectomy is
recommended for most localized, nonmetastatic carcinoid tumors. Octreotide (somatostatin analogue) can help
improve symptoms for patients with the rare bronchial neuroendocrine tumors and metastatic tumors.
Colorectal Carcinoma (CRC)
The morbidity and mortality of CRC is the third most common malignancy for both male and female. Most
colorectal carcinomas arise from adenomatous polyps > 2 cm and after 5-10 years.
There are four types of colon polyps:
(1) Tubular adenoma (adenomatous polyp, most common type);
(2) Villous or tubulovillous adenoma;
(3) Hyperplastic polyp;
(4) Inflammatory polyp (commonly seen in ulcerative colitis or Crohn disease; considered non-cancerous). Degree
of cancer risk: Villous > tubular > hyperplastic polyps (low risk).
Risk factors
Family history of CRC (No.1 factor), familial polyposis syndrome and genetics (APC gene, p54), diet (high fat,
high “red-meat” and low fiber), smoking, obesity, ulcerative colitis, alcohol consumption, chronic history of
constipation, Strep-bovis infection, and high-income population. High fiber diet and aspirin may decrease risk.
Essentials of diagnosis
1. Hematochezia (melena, the most common symptom) and a change in bowel habits are relatively early symptoms.
Later, pencil-thin stools, abdominal obstruction (left colon cancer), anemia (right colon cancer), abdominal pain,
fatigue, and weight loss may be present. 20% of patients present with metastatic disease. The most common
metastatic sites are the regional lymph nodes, liver, lungs, and peritoneum.
2. Colonoscopy with biopsy is the most accurate means of diagnosis. Ba-enema followed by colonoscopy is the
most commonly used tool of diagnosis. Ba-enema X-ray usually shows an “apple-core” filling defect (Image 53),
or image of polyps.
3. Anatomic staging by the TNM and Duke system.
Stage I (Tis, T1, T2, N0, M0) —Duke A: mucosa and submucosa; >80% of 5-year survival rate.
Stage II (IIA, B, C; T3-4, N0, M0) —Duke B: muscularis (B1) into or through serosa (B2); 60-80% of 5-year survival.
Stage III (IIIA, B, C, N1-2, M0) —Duke C: regional lymph nodes--LN (+); 35-60% of 5-year survival.
Stage IV (any T+N+M1; no Duke Class): distant metastasis (#1 common to the liver); 1-5% of 5-year survival.
Treatment
1. For Stage I and II, lymph nodes (LN) (-): Surgical resection along with follow-ups by colonoscopy in 6-12
months, then 3-5 years.
2. Stage III, LN (+): Resection along with chemo/radio-therapy (oxaliplatin-based or 5-fluorouracil). Small to
moderate metastases to liver or other organs are resected as much as possible, along with chemotherapy.
Postoperative chemotherapy eradicates micrometastases, reduces the likelihood of disease recurrence, and increases
cure rates. For non-surgical candidates, palliative chemotherapy is considered.
3. Postsurgery follow-up: Colonoscopy in 6 months and then 3 years are commonly used. Carcinoembryonic
antigen (CEA) should be obtained before and after surgery and used to monitor recurrence at least for the first three
years.
Important prevention
Healthy life style: (1) Regular exercise and no smoking; (2) Reduction of fat in diet carries more benefits than high-
fiber diet, though both are good.
PEARLS: Recommended CRC Screening
–With benefits of early diagnosis and reduced mortality.
1. For most people with average risk:
(1) Annual FIT (fecal immunochemical test, iFOBT) starting at age 50 and through age 75. If (+), colonoscopy is
indicated and per 2-4 years.
(2) Colonoscopy every 10 years or CT colonography every 5 years through age 75 starting at age 50 (45 for the
Black population).
2. For patients at increased risk:
(1) If a first-degree relative had CRC < 50 y/a, colonoscopy is started at age 40 or 10 years earlier than the age when
the family member had CRC, and per 3-5 years.
(2) If the family CRC was diagnosed > 50 y/a, colonoscopy is started at age 50 and per 5 years.
(3) If patient has a personal history of CRC or adenomatous polyps, ulcerative colitis, or Crohn disease, colonoscopy
and consultation are needed. Patient should have colonoscopy at 1 year after tumor resection, then at 3 years, then
every 5 years. With family adenomatous polyposis (FAP), sigmoidoscopy is started at age 12 and every year. If the
FAP or ulcerative colitis is present for 10 years, prophylactic colectomy is recommended.
(4) If multiple family members or 2-generations had CRC, or family with Lynch syndrome (HNPCC), colonoscopy
is started at age 25 and every 1-2 years.
HEMORRHAGE OF THE DIGESTIVE TRACT
Upper GI Hemorrhage
It refers to GI tract bleeding proximal to the ligament of Treitz, which connects the fourth portion of the duodenum
to the diaphragm near the splenic flexure of the colon. Sources include gastric erosions, PUD, esophageal varices,
Mallory-Weiss tear, esophagitis, and gastric tumor.
Essentials of diagnosis
1. History of hematemesis (bright red if fresh or coffee-ground vomiting if not), melena (black stool, indicating >
60 ml blood loss), orthostatic hypotension, occult bleeding, and iron-deficiency anemia (in slower chronic
bleeding). BUN may be elevated because of bacterial breakdown of blood.
2. Nasogastric lavage: Fast, blood (+) indicates an active bleed.
3. EGD-scopy: Both diagnostic and therapeutic. It’s also prognostic. Erythromycin use is recommended prior to
the examination.
Treatment
1. Adequate IV fluid is very important to save life in case of major bleeding. Emergent EGD-scopy is diagnostic and
therapeutic—indicated for all patients—electrocoagulation, injection therapy, sclerotherapy, and band ligation for
varices.
2. IV omeprazole (PPI) helps reduce risk of recurrent bleeding from PUD.
Lower GI Hemorrhage
It refers to GI tract bleeding distal to the ligament of Treitz and superior to the anus, mostly involving the colon.
Sources: Diverticulosis (No.1 common in the elderly), hemorrhoids (No.1 in the young), angiodysplasia,
infectious colitis (E. coli O157:H7, Shigella, Salmonella, Campylobacter jejuni), IBD, cancer, mesenteric ischemia,
Meckel diverticulum, and coagulopathy (a bleeding diathesis).
Essentials of diagnosis
1. Based on vital signs (hypovolemia), mental status, and patient history.
2. Laboratory tests: Decreased hemoglobin, hematocrit, and platelets are good evidence of hypovolemia or blood
loss. aPTT may also be tested.
Treatment
Treat underlying cause. In most cases emergency hospital admission is required and the bleeding resolves
spontaneously. Adequate IV fluid is very important to save life in case of major bleeding.
GI Angiodysplasia (Vascular ectasia)
It is a small vascular malformation of the bowel, the second common lower GI tract bleeding in the elderly and a
common cause of otherwise unexplained GI bleeding and anemia. Lesions are often multiple, and frequently involve
the cecum or ascending colon. It may also be part of hereditary Osler-Rendu-Weber syndrome—multiple
angiodysplasias on nose, skin, mucosa, lung, brain, and GI tract.
Clinical features and diagnosis
1. Painless lower GI bleeding in elder patients; cecum is the commonest site.
2. Perform colonoscopy first--for active bleeding; both diagnostic and therapeutic. If negative, labelled-RBC scan is
confirmative.
Treatment
Endoscopic injection therapy is effective. Medication or occasional surgery may be needed. Adequate IV fluid is
very important to save life in case of major bleeding. Angiogenesis inhibitors or octreotide may have some effects.
PEARLS: Indications for Diagnostic Tests for GI Bleeding
Clinical features and treatment of common vitamin (Vit) deficiencies are summarized below.
V. Vit-B12 deficiency
1. Major pathology: Pernicious anemia; degeneration of the posterior and lateral columns of the spinal cord.
2. Risk factors: Strict vegetarians and gastric or ileal resection.
3. Clinical features: Gradual, progressive, symmetric paresthesia, stocking/glove- sensory deficits, spasticity,
paraplegia, leg stiffness, bowel and bladder dysfunction, and dementia.
Treatment: B12 IM or large-dose PO.
X. Vit-K deficiency
See “Chapter 6: Hematology”.
31--33. Match the following clinical scenarios with the most likely diagnosis.
A. Acute ulcerative colitis
B. Acute appendicitis
C. Diverticulosis
D. Acute diverticulitis
E. Crohn disease
F. Acute pancreatitis
G. Cholecystitis
H. Ectopic pregnancy
I. Small bowel obstruction
31. A 65 y/o woman presents with severe left quadrant pain, fever, and anorexia for the past 10 hours. She has no significant history of
chronic diseases or medication use. She often has constipations and takes stool softeners for it. P/E shows guarding and rigidity on the
middle left abdomen. FOBT is (-). WBC count is 12 x 103/uL.
32. A 38 y/o obese woman presents with progressive upper abdomen pain after a big meal with some wine. The pain started as
“gnawing” and now becomes “sharp” and radiates to the right shoulder. Her last menstruation was 4 weeks ago. P/E reveals a cessation
of inspiration upon palpation of the RUQ, with rebound tenderness. Lab tests: WBC = 14 x 103/uL with a left shift. Further tests are
scheduled.
33. A 41y/o woman presents with nausea, vomiting, and severe abdominal pain that has gradually been increasing in intensity. The
patient has no bowel movement or passing gas for the past 3 days. She has a history of abdominal hysterectomy a year ago. Her last
menstruation was 4 weeks ago. P/E results: T = 38.5oC; hyperactive, tinkling bowel sounds sound. Lab tests: WBC = 16 x 103/uL.
It is a common disorder in female causing the galactorrhea-amenorrhea syndrome, due to secondary LH & FSH
decrease. It can also occur in natural physiologic states such as pregnancy, early nursing, stress, sleep, and nipple
stimulation. It is rarely seen in males.
Etiology
1. Pituitary adenomas (prolactinomas): The most common cause of pathologic hyperprolactinemia, usually
presenting as microadenomas in female and macroadenomas in male.
2. Medications: Decreased inhibitory action of dopamine (DA). (1) DA synthesis blockers (phenothiazines, metoclo
pramide); (2) DA-depleting agents (alpha-methyldopa, reserpine).
3. Stimuli that overcome normal DA inhibition: primary hypothyroidism (increased TRH).
Essentials of diagnosis
1. First exclude conditions such as physiologic status, hypothyroidism, and medications before the work-up of
hyperprolactinemia.
2. Look for manifestations of syndrome of galactorrhea-amenorrhea, with LH & FSH decrease and possible
peripheral vision defects.
3. Prolactin > 100 ng/mL suggests potential pituitary adenoma. The concentration is proportional to the tumor size.
Differential diagnosis
Craniopharyngioma: See “Chapter 9 Neurologic Diseases” (Table 9-2).
Treatment
1. Cabergoline, a new long acting dopamine agonist is the initial option, which can effectively reduce prolactin
levels in most patients. If it’s ineffective, bromocriptine is considered.
2. Surgery and radiotherapy are reserved only for macroadenomas not responsive to medications or with significant
compressive effects.
Acromegaly
Acromegaly is a disorder of excessive secretion of GH leading to bone and soft tissue overgrowth throught the body.
It’s usually caused by a pituitary adenoma (macroadenoma). In children, it is called gigantism. Acromegaly is an
insidious, chronic debilitating disease associated with bone and soft tissue overgrowth, but rarely with ectopic
neoplasms.
Essentials of diagnosis
1. 30-50 y/o patient, with gradual skeletal and soft tissue growth over years: enlarged hands, feet, nose, tongue,
mandible, coarsening of facial features, and thickened skin folds (Image 73). Hint: increased hat, glove/shoe
size, ring, body odor (due to sweat gland hypertrophy), etc.
2. Enlarged internal organs (heart, lung, spleen, liver, and kidneys, with colon polyps) and soft tissues, with possible
interstitial edema, osteoarthritis (arthralgia), signs of neurologic entrapment (due to carpal tunnel syndrome), deep
voice, and obstructive sleep apnea.
3. Impaired glucose tolerance (80%), diabetes (DM, 15%), hypertension (30-50%). Impotence may occur due to
increased prolactin cosecreted with the pituitary adenoma. Headaches and visual field loss can also occur. Levels of
somatomedin or insulin-like growth factor (IGF) positively correlate with the disease.
4. Screening test: It’s positive if GH > 5 ng/mL after 100g of oral glucose. Normally a glucose load should suppress
GH secretion.
5. CT or MRI usually confirms diagnosis and localizes the tumor after screening.
Treatment—To decrease GH level and tumor size
1. Medications:
(1) Dopamine agonist: Cabergoline is long acting and more effective in inhibiting GH release and better tolerated
than bromocriptine as the initial therapy.
(2) Octreotide or lanreotide: A somatostatin analogue that can reduce GH release in 2/3 patients and tumor size in
1/3 patients.
(3) Pegvisomant: A GH receptor antagonist that inhibits IGF release from the liver.
2. Transphenoidal surgery: This provides the best therapy if patient does not respond to medications (surgery is
effective in 70% of cases), but hypopituitarism can result in < 20% of patients.
3. Radiotherapy: It’s only used in those who do not respond to medications or surgery.
Complications
Cardiac failure—the No.1 cause of death. Others include diabetes, cord compression, and visual field defects.
Most complications are due to the tumor compression on the surrounding structures or rupture into the brain or
sinuses.
Differential diagnosis
Empty sella syndrome:
Enlarged sella without bony erosion, caused by herniation of the suprasellar subarachnoid space through an
incomplete diaphragm sella. Most patients are obese, multiparous females with headaches; hypertension and
endocrine symptoms are less common. Management is reassurance and follow-ups.
Hypopituitarism
Definition and etiology
Hypopituitarism is the anterior function decrease or loss due to any lesion of the pituitary or hypothalamus, or their
regulating functions. FSH, LH, and GH levels are usually reduced earlier than TSH and ACTH. Common
causes include ischemic or hemorrhagic disorders, large pituitary tumors and hypothalamic tumors
(craniopharyngiomas, meningiomas, gliomas), and inflammatory diseases (granulomatous disease and autoimmune
disease).
Pituitary apoplexy is an emergent syndrome associated with acute hemorrhagic infarction of a pre-existing pituitary
adenoma. Patient usually presents with severe headache, nausea and vomiting, and decreased cognitive and pituitary
functions.
Sheehan syndrome (Postpartum pituitary necrosis) is a common cause due to pituitary ischemia secondary to
heavy blood loss during delivering. The early sign is unable to lactate after delivery.
Essentials of diagnosis and treatment
The following hormone deficiencies will occur in order with hypopituitarism.
I. Gonadotropin deficiency--LH and FSH decrease first. In female, it leads to amenorrhea, genital atrophy,
infertility, decreased libido, and loss of axillary and pubic hair. In male, it leads to impotence, testicular atrophy,
infertility, decreased libido, and loss of axillary and pubic hair.
Lab tests: Low serum LH, FSH, and estrogen (in female) or testosterone (in male).
Treatment: Treat underlying cause and replace deficient hormones. In men, testosterone or gonadotropins/GnRH
(for secondary cause) is indicated. In women, estradiol and progestin replacements and gonadotropin or pulsatile
GnRH for induction of ovulation are indicated if fertility is pursued.
II. GH deficiency: It occurs the second and is not easily detectable in time in adults, with gradual decrease in
muscle mass, bone density, serum glucose (increased sensitivity to insulin), and memory. In children, it may present
with hypoglycemia, short stature, and growth failure.
Lab tests: The most reliable test for GH stimulation is insulin-induced hypoglycemia: GH < 10 mg/dL following
insulin IM is diagnostic; GH > 10 mg/dL after insulin can exclude GH deficiency.
Treatment: Recombinant GH should be started at the youngest possible age to achieve the best growth response.
Measure IGF-I approximately four weeks after starting the GH therapy or make a dose adjustment, and lower the
GH dose if the level is above the normal range.
III. Thyrotropin (TSH) deficiency: It results in central hypothyroidism, presenting with fatigue, cold intolerance,
and puffy skin without goiter.
Lab tests: Low serum T4 and T3, normal to low TSH.
Treatment: Synthetic T4 supplement, with the dose adjusted according to the patient’s symptoms and serum free T4
levels.
IV. ACTH deficiency: This occurs last after pituitary disorders, and results in secondary adrenal insufficiency.
(1) Decreased cortisol showing fatigue, decreased appetite, weight, and skin pigmentation.
(2) Decreased response to stress, fever, hypotension, and hypo-Na with high mortality.
(3) Electrolytes: Mild hyper-K and hypo-Na are with secondary adrenal insufficiency because aldosterone is mainly
maintained by the renin-angiotensin (which is normal).
(4) Specific Lab tests: Basal cortisol levels may be low to normal. Insulin tolerance test (+) is diagnostic—
cortisol < 19 mg/dL after insulin IM. Cortisol increase (> 19 mg/dL) after insulin administration excludes ACTH
deficiency.
Treatment: Administration of hydrocortisone or other glucocorticoid in an amount and timing to mimic the normal
pattern of cortisol secretion.
DISORDERS OF THE POSTERIOR PITUITARY LOBE
Diabetes Insipidus (DI)
DI is a disorder of the neurohypophyseal system caused by a deficiency of vasopressin (Central DI), or renal
unresponsiveness to vasopressin (Renal DI). Both deficiencies result in excessive, dilute urine (not alleviated by
reduced fluid intake) and increased thirst due to hyper-Na.
Etiology
I. Central DI
1. Due to neoplastic or infiltrative lesions in the hypothalamus or pituitary (adenomas, craniopharyngiomas,
leukemia, or sarcoidosis);
2. Pituitary or hypothalamic surgery, or radiotherapy; severe head injuries, hypertension, infection, or autoimmune
disease;
3. Idiopathic DI: accounts for 50% of cases and mostly starts in childhood;
4. Risk factors: more often in young, male patients.
II. Nephrogenic DI
This is caused by renal resistance to the action of vasopressin; it can be idiopathic or secondary to hyper-Ca, hypo-
K, drugs (lithium, demeclocycline, colchicine, chlorpromazine, anticholinergics, thioridazine), Sickle cell
anemia, pyelonephritis, or sarcoidosis.
Essentials of diagnosis
1. Related history and hyper-Na symptoms: Polyuria, excessive thirst, polydipsia (> 15 L/day), severe dehydration,
prostration, fever, and even coma and death.
2. Lab tests: Increased serum Na and osmolality, urine specific gravity < 1.010; increased levels of vasopressin and
osmolality ratio of plasma to urine.
3. Water deprivation test:
(1) In central DI: Water deprivation with ADH challenge will normally decrease urine output and increase urine
osmolality. MRI may show a pituitary or hypothalamic mass.
(2) In nephrogenic DI: Water deprivation with ADH challenge cannot stop patient from secreting a high volume of
dilute urine.
Differential diagnosis
Primary (Psychogenic) polydipsia:
(1) Polydipsia, polyuria with large volumes of dilute urine, and symptoms of Hypo-Na and low plasma osmolality.
(2) After long water deprivation, maximum plasma osmolality is low (around 290 mOsm/kg) and urine osmolality is
high (around 690 mOsm/kg); after using an ADH analogue, urine osmolality increases little (about 710 mOsm/kg).
Treatment
I. Central DI: Three major effective therapies include (1) a low-solute (sodium and protein) diet, (2)
desmopressin (dDAVP, an ADH analog), (3) and other drugs such as thiazide diuretics. Some medications can
also be used to increase the secretion or release of vasopressin (chlorpropamide, clofibrate, or carbamazepine).
II. Nephrogenic DI:
1. Stop irritating medications, treat underlying disease, and restrict salt.
2. Increase water intake along with a thiazide--highly effective. A thiazide can effectively enhance the reabsorption
of fluid from the proximal tubule (paradoxical effect). Amiloride is added if the urine output is insufficiently
reduced. Chlorthalidone is also helpful. If polyuria persists, adding indomethacin is suggested.
Syndrome of Inappropriate Secretion of Vasopressin (SIADH)
It is abnormal secretion of ADH caused by non-osmotic stimulation or beyond physiologic conditions (such as
dehydration, stress, injury, etc.), leading to water retention, hypervolemia, and a concentrated urine with reduced
volume.
Etiology
1. Malignancies: Small cell lung carcinoma (SCLC), pancreatic carcinoma, etc., producing ectopic vasopressin
secretion.
2. Nonmalignant causes: CNS disorders—head injury, CVA, and infections; pulmonary diseases—infections and
sarcoidosis; drugs—antipsychotics, antidepressants, and cytotoxics (chlorpropamide, clofibrate, vincristine,
vinblastine, cyclophosphamide, and carbamazepine) can all induce SIADH.
Essentials of diagnosis
1. Manifestations of water retention, Hypo-Na and hypervolemia without edema or hypertension, owing to
natriuresis: lethargy, muscle weakness, and oliguria; if severe acute hypo-Na (serum Na < 120 mEq/L)--signs of
cerebral edema (irritability, confusion, seizures, and coma).
2. Lab tests: Hypo-Na and concentrated urine, plasma Na < 130 mEq/L and osmolality < 270 mOsm/kg, urine
osmolality > 300 mOsm/kg and Na > 20 mEq/L (abnormal natriuresis); suppressed renin-angiotensin system and no
matching ANP; low BUN, creatinine, albumin, and uric acid.
Treatment --Targeting underlying causes.
1. Mild (serum Na+ > 130 mEq/L): Water and fluid restriction, and treat the underlying disease. First restrict fluid to
800-1,000/day to recover serum Na level.
2. Moderate (serum Na+ 120-130 mEq/L): Limited normal saline (N.S.) +/- hypertonic saline IV.
3. Severe (serum Na+ < 120 mEq/L, or with seizure or coma): IV 3% saline (200-300 mL in a few hours) followed
by furosemide.
4. Chronic or refractory SIADH: Hypertonic saline in combination with desmopressin or demeclocycline (potent
ADH inhibitor) or lithium (anti-ADH) can help correct Hypo-Na slowly. The new vasopressin receptor antagonist
conivaptan (IV) or tolvaptan (PO) produces a selective water diuresis without affecting sodium and potassium
excretion.
DISEASES OF THE THYROID
Thyroid diseases could be quantitative or qualitative changes in hormone secretion with or without thyroid
enlargement. Deficient hormone secretion results in hypothyroidism, excess secretion in hyperthyroidism. Thyroid
enlargement can be associated with neoplasms (focal, benign or malignant), hyper-/hypothyroidism, or normal
functions depending on the nature and status of the disease.
PEARLS: Important lab tests for thyroid disorders
1. The most sensitive test is the TSH. If the TSH is normal, then the patient is euthyroid.
2. Total T4 and T3 do not always reflect actual thyroid function. E.g., increased TBG levels are seen in pregnancy
and OCP use, which will increase total T4 but the free/active T4 level is normal. Decreased TBG levels are seen in
nephrotic syndrome and the use of androgens, which will decrease total T4 but the free/active T4 level is normal
(patient is euthyroid).
3. Serum thyroglobulin concentration can be used to assess therapeutic effects and for the follow-ups of thyroid
cancer.
Hyperthyroidism (Thyrotoxicosis)
Etiology and pathologic types
It’s mainly due to abnormal thyroid stimulation or excess production of TSH (rare).
1. Graves disease or toxic diffuse goiter:
Hyperthyroidism + diffuse goiter + exophthalmos + pretibial myxedema.
This is the most common cause of hyperthyroidism. It is more common in > 40 y/o females and associated with
Anti-TSH-R antibodies in thyroid cell membranes, which stimulates the gland to hyperthyroidism (thyroid-
stimulating immunoglobulin). It may also be related to other systemic autoimmune diseases such as pernicious
anemia, myasthenia gravis, and diabetes.
2. Toxic multinodular goiter (Plummer disease):
It’s a hyperfunctioning, non-autoimmune disease of the elderly, commonly associated with arrhythmia and CHF. It
can also follow a simple goiter. There is no exophthalmos.
3. Transient hyperthyroidism:
It usually results from subacute thyroiditis (painful, virus) and lymphocytic thyroiditis (painless, postpartum).
4. Extrathyroid source of hormones:
They include thyrotoxicosis factitia and ectopic thyroid tissue (struma ovarii, functioning follicular carcinoma).
Essentials of diagnosis
1. Clinical features of a specific type; more neurologic symptoms in young patients and more CVS symptoms in
older patients: emotional lability, sleeplessness, tremors, sweating, and heat intolerance, diarrhea, increased appetite
but decreased weight and strength; dyspnea, palpitations, angina, or cardiac failure in older patients; warm moist
skin, silky hair and lid lag.
2. Lab tests: High T4 & T3 and low TSH in primary hyperthyroidism and high TSH in secondary hyperthyroidism.
I131 uptake is increased.
Differential diagnosis
Anxiety, neurosis, and mania, pheochromocytoma, acromegaly, cardiac disease, myasthenia gravis. It is important to
distinguish primary hyperthyroidism from thyroiditis due to different treatment applied.
Treatment
1. Acute or urgent: Atenolol or propranolol is first administered to control adrenergic symptoms, then iodine to
decrease T3/T4 release and shrink the thyroid for surgery.
2. Antithyroid drugs as the main therapy: Methimazole or propylthiouracil (PTU, safe in pregnancy);
thionamide.
3. Ablative therapy with I131: Good for Graves or Plummer disease but risky of hypothyroidism, in which T4
supplement may be needed.
4. Subtotal thyroidectomy: Reserved for patients in pregnancy (2nd trimester) and for children forbidden for
radiation.
Thyroid Storm
It is an extreme and dangerous form of thyrotoxicosis, precipitated by stress, surgery, or trauma. Manifestations
include extreme irritability, delirium, coma, tachycardia, restlessness, vomiting, diarrhea, high fever, dehydration,
and hypotension.
Treatment
1. Urgent supportive therapies with saline and glucose hydration, glucocorticoids, oxygen, and a cooling blanket.
2. Propranolol for immediate symptom relief, and antithyroid agents (PTU per 2 hours) plus iodine to inhibit T3 and
T4 release. Methimazole is used for maintenance.
3. Finally glucocorticoids (dexamethasone) to inhibit hormone release and peripheral production of T3 from T4, and
to strengthen adrenal functions. Cholestyramine may also be of benefit in severe cases to reduce enterohepatic
recycling of thyroid hormones.
Hypothyroidism
The most common primary hypothyroidism is due to chronic thyroiditis—Hashimoto disease, which is goitrous and
associated with anti-microsomal antibodies. Other causes include I131 therapy, surgery, iodine deficiency, inherent
synthetic defects, and medicines (lithium, amiodarone, and ASA). Secondary hypothyroidism is usually from
hypopituitarism; tertiary hypothyroidism is usually hypothalamus-induced.
Essentials of diagnosis
1. In newborns and children: Cretinism and juvenile hypothyroidism are the major manifestations. At birth,
persistent physiologic jaundice, hoarse cry, constipation, somnolence, and feeding problems. In later months,
delayed milestones and dwarfism, coarse facial features, sparse hair, dry skin, protuberant abdomen (+/- hernia),
intellectual disability, and delayed bone development.
2. In adults: Weakness, fatigue, cold intolerance, constipation, muscle cramping, carpal tunnel syndrome, and
menorrhagia. In later stage, depression, decreased intelligence, movement, deep tender reflexes, and appetite;
increased weight and lipid; dry skin, brittle hair, deeper voice, and myxoedema.
3. Lab tests: Low T4, T3 and high TSH confirm the diagnosis. Others results: low Hb and Na; hyperlipidemia.
Differential diagnosis
Iodine deficiency disorder and endemic goiter:
(1) It’s common in regions with low-iodine diets. (2) It has a high rate of congenital hypothyroidism and cretinism.
(3) There is usually an enlarged, multinodular goiter. (4) Most adults with endemic goiter are euthyroid while some
are hypothyroid. (5) Treatment is supplemental iodine + surgery (for goiter).
Treatment
1. T4 is administered and TSH/T3 levels are monitored--it takes weeks for the dosing to be stabilized.
2. Hydrocortisone is administered followed by T4 if supra-thyroid hypothyroidism (such as ACTH deficiency) is
suspected. The goal is to restore metabolic state gradually in the elderly and patient with heart disease.
Complications
1. Hyperlipidemia: Mainly with high LDL or cholesterol (Chol). Fasting Chol testing for patients with hypothyroid
symptoms is the best means of diagnosis.
2. Myxoedema coma: Usually caused by severe and long-time hypothyroidism without treatment; presenting with
bradycardia (HR < 40/min), respiratory depression, hypothermic (T < 30oC), and fatal stuporous state. Precipitating
factors include cold exposure, trauma, infections, and CNS depressants. Treatment is IV high-dose T4 and T3.
Thyroiditis
It is inflammation of the thyroid with different causes and clinical courses, and can affect individuals of both sexes
and all ages. It can be a euthyroid, thyrotoxic, or hypothyroid state.
I. Subacute Thyroiditis
It’s the most common form of thyroiditis, also called subacute granulomatous thyroiditis or de Quervain
thyroiditis, usually associated with viral infection, granulomatous diseases, and giant cell arteritis. It mostly
occurs in middle-aged women following an upper respiratory infection (URI).
Essentials of diagnosis
1. Patient usually starts with an URI, accompanied with fever, malaise, muscle aches, and a painful, enlarged, and
firm thyroid. The pain radiates to the lower jaw, ears, or neck. Then brief hyperthyroid symptoms appear
followed by hypothyroidism.
2. Lab tests: Increased TSH, ESR, decreased I131 uptake; initially elevated T4 and T3 followed by decrease (T4-T3
depletion and hypothyroidism).
Differential diagnosis: Graves disease.
Treatment
Anti-inflammatory or symptomatic treatment with aspirin/naproxen/ibuprofen, prednisone, and propranolol is
effective. The disease eventually subsides and the functions return to normal state over months. If symptomatic
hypothyroidism persists, T4 can be administered.
The incidence increases with age and the overall female: male ratio is 3:1.
Essentials of diagnosis
1. History of radiation therapy or exposure of the head or neck (especially in childhood and females).
2. A recent thyroid mass without tenderness or hoarseness, or a solitary nodule with high calcitonin level. I131 scan
shows “cold nodule”.
3. Calcifications on x-rays such as psammoma bodies suggest papillary carcinoma; increased density suggests
medullary carcinoma.
4. FNB (FNA) is the best means of diagnosis.
PEARLS: Important differential and managing steps for a solitary thyroid nodule
1. First perform thyroid function tests (TFTs; TSH, T4, and T3). If they are normal (a non-functional nodule) or of
hypothyroidism, then proceed to a FNA for cytology, which is the most appropriate initial procedure for most
patients. FNA has high sensitivity and moderate specificity.
2. If it’s hyperthyroidism or uncertain, I131 scan is applied to determine if it’s a “cold or hot” nodule. Functioning
(“hot”) nodules are rarely malignant.
3. If the FNA result is benign, treat with T4 to suppress TSH and shrink nodule, along with ultrasound follow-up.
4. If the FNA result is malignant, perform thyroidectomy along with I131 scan—it’s both diagnostic and therapeutic,
especially with follicular cancer and lymph node (LN) metastasis (do not resect LN).
5. If it’s difficult to judge the “benign or malignant” nature, perform a lobectomy and wait for the biopsy report.
6. Ultrasound may help determine if the nodule is cystic or solid, but FNA is eventually required.
Pathologic types and treatment
I. Papillary carcinoma:
It’s the most common type (accounting for 75-85% of thyroid carcinomas), and usually associated with history of
radiation exposure. Females are more frequently affected, with a bi-modal distribution by age in 20-30’s and elder
age. The tumor grows slowly and spreads via lymphatic channels after many years. It may occur in women with
familial adenomatous polyposis and in patients with Cowden syndrome.
Treatment: (1) surgery for small and localized tumor; (2) surgery + radiation for large tumor; (3) TSH suppression
therapy also helps. General prognosis is good.
II. Follicular carcinoma
It accounts for about 15% of all thyroid cancers. It is more common in the elderly females and more malignant than
papillary carcinoma. It spreads via blood with distant metastasis (Met) to the lung and bone. It’s occasionally seen
in patients with Cowden syndrome.
Treatment requires total/near-total thyroidectomy with postoperative I131 ablation.
III. Anaplastic carcinoma
It accounts for about 10% of all thyroid cancers and occurs more in elderly females. It is the most malignant type
with rapid and painful enlargement. 80% of patients die within 1 year of diagnosis.
IV. Medullary carcinoma
It accounts for about 5%. It arises from parafollicular cells of the thyroid and is more malignant than follicular
carcinoma, often producing calcitonin and metastasis via lymph or blood (mostly to the liver). It is often part of
the MEN-2.
Treatment: The only effective therapy is thyroidectomy along with I131 radiation.
Follow-up
Patients with differentiated thyroid cancer usually require post-surgery T4 replacement and follow-up with physical
examinations, biochemical testing (including serum Ca, TSH and thyroglobulin measurements), and ultrasound.
DISEASES OF THE PARATHYROID GLANDS
Pathophysiology
Parathyroid hormone (PTH) acts directly on the bone and kidney, and indirectly on intestine (by synthesis of 1,
25(OH)2-D3 to increase serum Ca. Ionized Ca is the major regulating factor for Ca metabolism, which involves
three tissues—the bone, kidney, and intestine, and three hormones: PTH, calcitonin, and activated Vit-D. Normal
serum calcium (Ca) level is 8.5-10.5 mg/dL).
Hyper-Ca: It can be a sign of a serious disease, with symptoms when Ca > 11.5-12 mg/dL (#1 cause is 1o hyper-
PTD), or showing crisis with cancer (Ca > 14 mg/dL) --mostly via PTH-related proteins [1, 25(OH)2-D3], IL, TNF,
and osteoclastic-activating factor. Other causes are tertiary hyper-PTD, renal failure, drugs (thiazides or lithium),
sarcoidosis, thyrotoxicosis, familial hypocalciuric hyper-Ca, and immobilization.
Hyperparathyroidism and Hypercalcemia
Primary hyperparathyroidism (hyper-PTD) represents 90% of mild hyper-Ca (serum Ca 10.5-11.5 mg/dL), mostly
due to one gland hyperplasia or adenoma and accidentally found in mid-aged women. Parathyroid adenoma is also
part of MEN-1 and MEN-2.
Essentials of diagnosis
1. Clinical features: (1) Most patients are asymptomatic with mild hypercalcemia. When serum Ca is over 11.5
mg/dL, typical symptoms will appear as “Bones (pain and fractures with osteitis), Groans (PUD, pancreatitis),
Stones (nephrolithiasis), and Psychic overtones (anxiety, depression, irritability and sleep disturbances).”
(2) CVS: Hypertension and arrhythmias (short QT).
(3) UT: polyuria, polydipsia, and nephrocalcinosis with renal failure.
(4) GI: anorexia, weight loss, constipation, nausea/vomiting, thirst, abdominal pain.
(5) NS: Neuromuscular weakness, psychosis, or mental disturbances.
2. Lab tests: Serum Ca > 10.5 mg/dL and PO4 < 2.5 mg/dL with elevated PTH can be diagnostic.
Differential diagnosis
High oral Ca-intake, secondary hyper-PTD, tertiary hyper-PTD, sarcoidosis, MEN syndrome, etc.
Secondary hyper-PTD:
The excessive secretion of PTH is due to hypocalcemia and associated hypertrophy of the parathyroid glands, most
commonly seen in chronic renal failure. Manifestations include hypo-Ca, bone and joint pain, increased
BUN:creatinine ratio, and neurologic or immunologic abnormalities. Treatment (with renal failure) includes dietary
restriction of phosphorus, supplements with an active form of Vit-D such as calcitriol. If left untreated, the disease
will progress to tertiary hyperparathyroidism.
Tertiary hyper-PTD:
It’s a state of excessive secretion of PTH after a long period of secondary hyperparathyroidism and resulting
in hypercalcemia. It reflects development of unregulated parathyroid function following a period of persistent
parathyroid stimulation. The basis of treatment is still prevention in chronic renal failure, starting medication and
dietary restrictions long before dialysis treatment is initiated. Cinacalcet has greatly reduced needed surgery for
surgery. If hyper-PTD persists despite medical treatment, surgical removal of most of the parathyroid glands is
indicated.
Treatment
1. Medications: Pamidronate (P2) is used for asymptomatic patients with hyperparathyroidism, with serum Ca
10.5-11.5 mg/dL or with surgery contraindication. Diet Ca restriction to 400 mg/day and oral fluid 2-3 L/day are
also effective. Estrogen may be indicated in hyper-PTD with menopause.
2. Urgent treatment of severe hypercalcemia (Ca > 12 mg/dL): This includes the simultaneous IV administration
of saline, calcitonin (effective < 48 hours), and a bisphosphonate. Isotonic saline corrects possible volume
depletion due to hypercalcemia-induced urinary salt wasting or vomiting. Hypovolemia exacerbates hypercalcemia
by impairing the renal clearance of calcium.
3. Primary hyperparathyroidism (symptomatic): Parathyroidectomy is the effective therapy that cures the
disease, decreases the risk of kidney stones, and improves bone mineral density. Surgical therapy is the effective
cure for hypercalcemia caused by parathyroid neoplasms, but not applied to familial hypocalciuric hypercalcemia.
Complication
“Hungry bones syndrome”: It refers to severe and prolonged hypocalcemia caused by surgical removal of a
hyper-PTD gland normal or elevated PTH. The hypocalcemia may be treated with oral or IV calcium
supplementation or by dialysis.
Hypoparathyroidism and Hypocalcemia
Hypocalcemia (serum Ca < 8.5 mg/dL) can be associated with low or high parathyroid hormone. Low PTH levels
are seen in hereditary hypo-PTD, acquired hypo-PTD (surgery is the #1 cause), and hypo-Mg. High PTH levels are
seen in CRF and low Vit-D, due to decreased diet intake or defective metabolism (secondary to anticonvulsant
therapy or Vit-D-dependent rickets type 1). Ineffective Vit-D can also lead to high PTH levels, seen in GI
malabsorption and Vit-D-dependent rickets type 2.
Essentials of diagnosis
1. Neuromuscular irritability: Tetany, laryngospasm, cramping, seizures, and amnesia. Chvostek sign (percussion
of the facial nerve) and Trousseau sign (cuff on the arm) may be (+).
2. CVS: Prolonged QT, hypotension and refractory CHF may be seen. Chronic: possible cataracts and soft tissue
calcifications.
3. Lab tests: Serum calcium (Ca) is low. It is important to measure ionized Ca, pH and albumin level and correct
them accordingly, because the low calcium may be caused by low albumin or alkalosis. The serum total calcium
concentration falls approximately 0.8 mg/dL for every 1 g/dL reduction in the serum albumin concentration.
Differential diagnosis
Hypo-Ca and hyper-P (PO4): Can be due to hypo-PTD, pseudohypo-PTD, renal failure, and massive tissue
destruction.
Hypo-Ca and hypo-PO4: It’s due to Vit-D deficiency (with secondary hyper-PTD), whereas primary hyper-PTD
may alleviate Vit-D deficiency.
Treatment
1. Acute symptomatic hypo-Ca( ≤ 7.5 mg/dL or 1.9 mmol/L): CaCl2 or Ca-gluconate IV. Oral calcium and Vit-
D supplement is for maintenance therapy or patients with mild symptoms (e.g., paresthesias) and hypocalcemia
(corrected serum calcium >7.5 mg/dL).
2. Chronic disease: Treat original causes while supplying oral calcium and Vit-D. If hyper-PO4 coexists, diet
restriction and phosphate binders (Ca-carbonate or aluminum hydroxide) are indicated.
Osteomalacia
It’s defined as decreased bone mineralization and density while bone mass or volume is normal. Defective
mineralization of the growing skeleton in children results in permanent bone deformities (rickets). Defective skeletal
mineralization in adults causes osteomalacia. It can result from any condition causing inadequate Ca or phosphate
mineralization of bone osteoid.
Etiology
1. Vitamin D deficiency (#1 cause) and resistance: Lower availability or nutritional supply of Vit D; insufficient
sunlight exposure; malabsorption (including pancreatic disease); chronic kidney or liver disease; Vit D-dependent
rickets type 1; medications (phenytoin, carbamazepine, or barbiturate therapy).
2. Deficient Ca intake: due to long-term nutrition-imbalanced diet.
3. Phosphate deficiency: It results in rickets in childhood and osteomalacia in adults. Causes include
malnutrition/malabsorption, genetic disorder (high FGF23, low P2), mesenchymal tumors (high FGF23, low P2), and
renal disease.
4. Aluminum toxicity or bisphosphonates: Inhibition of mineralization.
5. Disorders of bone matrix: hypophosphatemia; fibrogenesis imperfecta; axial osteomalacia.
Essentials of diagnosis
1. Painful proximal muscle weakness (particularly pelvic girdle); bone pain and tenderness.
2. Decreased bone density from defective mineralization.
3. Abnormal lab results: increased alkaline phosphatase; decreased 25-OH-D, Ca, and phosphate; secondary
hyperparathyroidism. Bone X-ray typically shows “looser zones”.
Treatment
Supplemental calcium + phosphate + Vit-D are more effective for nutritional osteomalacia than others.
Underlying cause should be treated. Hereditary hypophosphatemic rickets is treated with a combination of
phosphate supplementation and calcitriol.
DISEASES OF THE ADRENAL GLAND
The adrenal gland is divided into two areas, the cortex, and medulla. The cortex is divided into three areas:
glomerulosa (aldosterone synthesis), fasciculate (cortisol synthesis) and reticularis (androgen synthesis).
Hyperfunctional adrenal disorders include Cushing syndrome (primary hypercortisolism), hyperaldosteronism, and
increased adrenal androgens (female-virilization). Hypofunctional adrenal disorders include Addison disease
(Primary) and secondary adrenal hypofunction (due to pituitary gland hypofunction or resection).
Cushing Syndrome
It’s a group of clinical abnormalities caused by chronic or prolonged hypercortisolism. The No.1 cause is excessive
use of corticosteroids. The No.2 cause is ACTH hypersecretion by the pituitary microadenoma (Cushing disease,
accounting for 70% of organic hypercortisolism). Other causes include adrenal hyperplasia secondary to ACTH
or CRH produced by non-endocrine cancers (small cell lung carcinoma, thymus tumor, pancreatic carcinoma, and
bronchial adenoma, etc) and adrenal adenoma or carcinoma.
Essentials of diagnosis
1. Classical manifestations (Image 38) of “moon face”, interscapular, “buffalo hump”, and truncal obesity
(caused by adipose deposition); glucose intolerance or hyperglycemia (20% with diabetes), hypo-K; hypertension,
muscle weakness, and fatigability; osteoporosis (caused by increased bone catabolism); cutaneous striae and easy
bruisability.
2. Emotional lability, irritability, depression, or even psychosis can also occur. Female patient may have acne,
hirsutism, and oligomenorrhea or amenorrhea resulting from the higher level of adrenal androgen.
3. Confirmative steps of lab tests:
(1) The first test is low-dose dexamethasone suppression: if suppression is (+) (cortisol reduction the next
morning), it indicates the adrenal gland may or may not be normal, then 24-hour free urinary cortisol collection is
done (this can also be done first as a screening test).
(2) If persistent cortisol elevation exists after the low-dose inhibition test, a high-dose dexamethasone suppression
test is done: pituitary tumors will be suppressed but ectopic cancers will not (e.g., small cell lung cancer).
(3) CT (adrenal) or MRI (sphenoid) can further localize the lesion.
Treatment
1. ACTH-secreting pituitary or ectopic tumor or cortisol-secreting adrenal tumors: Surgical resection is the best
therapy. Cabergoline may be added after surgery if hyper-ACTH persists.
2. Medicines: Ketoconazole, metyrapone, cabergoline, pasireotide or octreotide can be used to inhibit cortisol
secretion in adrenal cancer or small cell lung carcinoma.
Hyperaldosteronism
It’s a syndrome associated with hypersecretion of the major adrenal mineralocorticoid—aldosterone. By etiology, it
can be divided into primary and secondary aldosteronism.
I. Primary Aldosteronism
Most cases (70%) result from a unilateral adrenal tumor (Conn syndrome); 30% from bilateral adrenocortical
hyperplasia.
Essentials of diagnosis
1. Typical manifestations include Hyper-Na, hypertension, headache, hypo-K, muscle weakness, metabolic
alkalosis, and polyuria (hypo-K causing secondary decreased ADH sensitivity).
2. With above manifestations, first obtain plasma aldosterone and renin levels. Increased aldosterone and decreased
renin level is specific for the diagnosis, which is confirmed by salt loading test. If aldosterone is NOT suppressed
after salt loading (“positive”), then primary aldosteronism is confirmed.
3. Next, abdominal CT or MRI is performed to locate the adrenal tumor.
4. If extra-adrenal tumors are suspected: NP-59 scan (iodine-scintillation) is done for chest or abdominal tumors.
5. In patients with low K+, low aldosterone and high renin: 24-hour urine K+ secretion is tested (which should be
low) for suspected secret vomiting (“Bulimia disorder”).
Treatment
1. Conn syndrome: Laparoscopic or open adrenalectomy is the therapy of choice.
2. Bilateral hyperplasia: Aldosterone-R antagonist--spironolactone (#1) or eplerenone (#2) is the best.
It’s a primary adrenal insufficiency following acute or chronic destruction of the gland, mostly through idiopathic
or autoimmune destruction. Other causes are congenital enzyme deficiencies, surgery, hemorrhage (DIC,
Waterhouse-Friderichsen syndrome), infection (TB, fungal, CMV), metabolic disease, and metastasis. The major
defect is lack of glucocorticoids and mineralocorticoids.
Essentials of diagnosis
1. Addisonism: Weakness, paresthesia, cramping, nausea, vomiting, weight loss, hypotension, hyperpigmentation
(key difference from the secondary type), stress and cold intolerance, personality changes (irritable, restless, etc),
and hypothyroidism. Lab tests: Low Na and glucose, high K and ACTH; WBC: moderate neutropenia,
lymphocytosis, and eosinophilia.
2. “Cosyntropin” (ACTH1-24) stimulation test: Best to distinguish primary and secondary insufficiency: if cortisol
is high after ACTH (test positive)—it’s secondary adrenal insufficiency; if cortisol remains low—it’s Addison
disease.
3. In mild adrenal insufficiency, cortisol and aldosterone level may be normal.
Treatment
1. Acute insufficiency: IV cortisol and fluid is needed for acute stress periods (major surgery, infection and trauma)
or Adrenal Crisis. Mineralocorticoid is generally not necessary.
2. Chronic insufficiency: Most patients will need hydrocortisone plus mineralocorticoid replacement
(fludrocortisone). DHEA therapy is only for women with impaired mood despite optimal glucocorticoid and
mineralocorticoid replacement.
Pheochromocytoma
It’s a rare but the most common primary benign neoplasm of the adrenal medulla in adults. It originates from
the sympathetic nerve chromaffin cells and secretes EP and NE. The clinical features are “rules of 10%”: 10%
malignant, 10% extra-adrenal, 10% in children, 10% multiple, 10% calcified, and 10% familial (Autosomal
dominant inherent, MEN-2). It may be Assoc/w neurofibromatosis or retinal hemangioblastoma. NE is secreted by
all extra-adrenal pheochromocytomas (mostly in the abdomen).
Essentials of diagnosis
1. Intermittent tachycardia, palpitation, chest and head pain, sweating, flushing, anxiety, and hypertension.
2. Lab tests: Elevated 24-hour urinary VMA and HVA (catecholamine metabolites) is the best diagnostic test. EP
metabolite increase is mostly from an adrenal tumor.
3. MRI or CT best locates the adrenal tumor: if it’s negative, perform a whole-body MIBG (radio-labeled I-
metaiodobenzylguanidine) scan for extra-adrenal tumors.
Differential diagnosis
Essential hypertension, anxiety attacks, factitious disorder, epilepsy, and intracranial lesions.
Treatment
1. Alpha-R blockers: Long acting phenoxybenzamine is used. Beta-R blockers alone are contraindicated (to
avoid lethal hypertension) and may only be used following alpha-R blockers to reduce hypertension.
2. Definite treatment: Surgical removal of the tumor; bilateral adrenalectomy if it’s familial or malignant.
HYPOGONADISM
It’s defined as decreased function of the testes or ovaries, resulting in the impairment or absence of secondary
sexual characteristics and infertility.
Etiology and clinical features
1. Primary hypogonadism -- hypergonadotropic hypogonadism with elevated LH and FSH:
It can result from Klinefelter syndrome, anorchia, chemo-radiotherapy, infections (mumps, TB, leprosy), or
surgical or accidental castration.
2. Secondary hypogonadism -- hypogonadal hypogonadism with low/normal LH and FSH:
This can result from aging, alcohol, chronic illness, malnourishment, constitutional delay, obesity, hypopituitarism
(idiopathic or tumors), hypothalamic lesions, Kallmann syndrome, Cushing syndrome, hypothyroidism,
hemochromatosis, 17-ketosteroid reductase deficiency, or drugs (estrogen, androgen, GnRH agonist, ketoconazole,
spironolactone, marijuana)
3. If it’s prepubertal hypogonadism caused by pituitary deficiency, patient will show underdeveloped external
genitalia, high-pitched voice, and lack of beard, libido and potency.
Treatment
Treat underlying cause. Replace sex steroids to develop secondary sex characteristics, and to build and sustain
normal bone and muscle mass. Pulsatile GnRH and exogenous gonadotropin therapy are used for ovulation
induction in women and for induction of spermatogenesis in men.
Klinefelter Syndrome
It’s the most common primary hypogonadism. Most patients have 47 XXY karyotype, presenting with lack of
libido, tall figure, small testes, eunuchoid, gynecomastia, and sterility. Intellectual disability may or may not
exist. Urinary 17-KS and serum testosterone are low to normal; LH, FSH, and estradiol are high.
Standard diagnosis is by analysis of the chromosomes’ karyotypes on LC.
Treatment should focus on 3 major facets of the syndrome: hypogonadism, gynecomastia, and psychosocial
problems. Testosterone replacement therapy helps with development of normal male secondary sex characteristics,
and improvement of social behavior. However, testosterone therapy does not treat infertility or gynecomastia.
Kallmann Syndrome
It is a genetic deficiency of GnRH release by hypothalamic neurons leading to the failure of start or completion
of puberty. It occurs in both males and females and has the additional symptoms of hypogonadism, infertility,
altered sense of smell (anosmia or hyposmia). It is often difficult to distinguish Kallmann syndrome or
hypogonadal hypogonadism from a constitutional delay of puberty. However, if puberty has not commenced by
either 14 (girls) or 15 (boys) and one of these non-reproductive features are present, then a referral to the expert is
recommended.
Diagnosis is usually made by exclusion of other causes of GnRH deficiency and delayed puberty.
Treatment includes replacing sex steroids to develop secondary sex characteristics and to build and sustain normal
bone and muscle mass, and exogenous gonadotropin or pulsatile GnRH therapy to induce ovulation in women and
spermatogenesis in men.
Turner Syndrome
Also known as “Gonadal dysgenesis”, it is a female chromosomal abnormality in which all or part of one of the
sex chromosomes is absent (missing the Barr body, mostly 45 X karyotype). In some cases, the chromosome is
missing in some cells but not others, a condition referred to as mosaicism. Characteristic abnormalities include
gonadal dysfunction (causing amenorrhea and sterility), short stature, swelling, short 4th metacarpals, broad
chest, low hairline, low-set ears, and webbed necks. Patients also have higher risk of congenital heart disease,
hypothyroidism, diabetes, vision or hearing deficits, autoimmune diseases, and a specific pattern of cognitive
deficits.
Diagnosis: prenatal--amniocentesis or chorionic villus sampling; postnatal--typical symptoms plus analysis of the
chromosome karyotypes.
Therapeutic guidelines for hypogonadism
1. Treat underlying cause.
2. Hormone replacement therapy: Use testosterone for male and estrogen-progesterone for female.
Chapter 5: High-yield Questions (HYQ)
Q1-4. 1. A 36 y/o female at 2-month gestation comes for her first examination. She is generally in good health except for that she is
mildly overweight for her gestational age. What’s the most appropriate next step?
A. Urine dipstick
B. Fasting blood glucose test
C. Random blood glucose test
D. 1-hour 50g GTT
E. 3-hour 100g GTT
2. From the above patient, 1-hour 50g GTT comes back with serum glucose = 140 mg/dL. Then a 3-hour 100g GTT is done with serum
glucose = 180 mg/dL at 1 hour, 155 mg/dL at 2 hours, and 140 at 3 hours. Now what’s the best next step?
A. Metformin
B. Glipizide
C. Diet control and exercise
D. Repeat 3-hour 100g GTT in 1 month
E. Regular insulin use and glucose follow-up
3. The above patient is given “Lente (70 NPH/30 regular) insulin” twice daily, 1/3 the total amount in the morning and 2/3 in the
evening. At “midnight” she feels uncomfortable and wakes up. Her blood glucose is tested as 60 mg/dL. She then eats some food and
sleeps better through the night. The next dawn she wakes up with discomfort again. This is most likely due to
A. the “Honeymoon” period
B. the Somogyi effect
C. the Dawn phenomenon
D. the insulin dose waning
E. unbalanced diet
4. The above patient is now at 32 week’s gestation and presents with weakness, polyuria, polydipsia, lethargy, and confusion. Her vital
signs are stable. Blood tests reveal glucose = 700 mg/dL, BUN and osmolality both increased, HCO3- = 21 mEq/L, pH = 7.30. Fetal
monitoring shows “mild distress”. What’s the best next step now?
A. Large-volume N.S. + high-dose insulin
B. Moderate-volume N.S. + high-dose insulin
C. Large-volume N.S. + moderate-dose insulin
D. IV steroids
E. Induction of delivery
5. A 30 y/o man is found with a solitary thyroid nodule during a yearly P/E. He complains of occasional fatigue, sweating, and cough. He
has a 10-year history of smoking and alcohol use, but no recent fever or radiation exposure. P/E finds warm skin and tachycardia. X-ray
of the neck and chest is normal, so are other results. The most appropriate next step is
A. ultrasound (U/S)
B. TFTs
C. fine needle aspiration (FNA)
D. I131 scan
E. follow-up in 3 months
6. From the above patient, TFTs reveal mildly increased T4 and decreased TSH. Now the best next step is
A. ultrasound
B. anti-thyroid drugs
C. FNA
D. I131 scan
E. follow-up in 3 months
7. From the above patient, the I131 scan shows a 1.5 cm nodule with lower I131-uptake within the nodule and higher I131-uptake in other
parts of the thyroid. FNA is performed for biopsy and reveals papillary carcinoma. Now the best next step is
A. surgery
B. anti-thyroid drugs
C. TSH suppression therapy
D. surgery + I131
E. follow-up in 3 months
8. A 45 y/o female presents with fever and a painful mass in the front of her neck for the past week, accompanied with anxiety, sweating,
tremor, and a “pounding heart.” Now she complains of lethargy, fatigue, and “always feeling cold.” P/E finds normal results except for
mild bradycardia and an enlarged thyroid with tenderness. Lab tests show mild TSH increase and T4 decrease. The best initial treatment
is
A. aspirin
B. corticosteroids
C. T4 supplement
D. propranolol
E. observation
9-13: Match the following clinical scenarios with the most likely diagnosis.
A. High oral intake
B. Primary Hyper-PTD
C. Secondary Hyper-PTD
D. Tertiary Hyper-PTD
E. Vit-D toxicity
F. Sarcoidosis
G. Paget disease
H. Malignancy
I. Vit-D deficiency
J. Hypo-PTD
K. Pseudo-hypo-PTD
9. A 15 y/o boy has intermittent polyuria, polydipsia, polyphagia, proteinuria, bone pain, and weight loss for the past year, for which he
takes insulin IM. P/E and X-ray reveal mild osteodystrophy. Blood tests reveal high levels of glucose, K, PO4, creatinine, and PTH; total
Ca = 6.9 mg/dL.
10. The above boy comes back for re-examination 1 year later because of progressive symptoms. P/E and X-ray demonstrate severe
muscle and osteodystrophy. Urinary protein is (+++). Blood tests reveal high levels of glucose, K, PO4, creatinine, PTH, and Ca (Ca = 12
mg/dL).
11. A 45 y/o female complains of 6 months of intermittent fatigue and muscle-bone pain. She follows a particular diet with a fixed range
of foods. She had a history of small renal stones that were expelled spontaneously. She denies chronic diseases. Blood tests: Ca = 11.5
mg/dL, PTH is decreased; levels of glucose, creatinine, K, and PO4 are all normal.
12. A 50 y/o man complains of 3 months of intermittent fever, cough, fatigue, and general muscle and bone pain. He has a 5-year history
of smoking. P/E: T = 38oC; multiple reddish skin nodules on the sun-exposed areas. Blood tests: Ca = 13mg/dL; PO4 is high; PTH is
low; albumin, creatinine, and K levels are normal. X-ray shows bilateral pulmonary adenopathy.
13. A 50 y/o female complains of intermittent muscle cramping and convulsion, irritability and amnesia. She denies history of chronic
diseases. P/E finds BP = 90/50 mmHg. Chvostek’s and Trousseau’s signs are both (+). ECG shows prolonged QT. Blood test results: Ca
= 7.5 mg/dL; PO4 is high; K, PTH, AKP, and albumin are all normal.
14. A 40 y/o female complains of 3 months of gradual fatigue, headache, upper abdominal pain, general muscle-bone pain, decreased
vision, galactorrhea, amenorrhea, swelling, intermittent anxiety, dizziness, and sweating. Blood test results: Ca = 12.5 mg/dL, increased
prolactin, PTH, gastrin and insulin levels; decreased PO4, glucose, LH, and FSH; levels of T4, TSH, calcitonin, creatinine, and K are all
normal. What's the most likely diagnosis?
A. Pituitary adenoma
B. MEN-1
C. MEN-2A
D. MEN-2B
E. Parathyroid adenoma
F. Insulinoma
15. A 55 y/o man complains of 3 months of cough, fatigue, muscle weakness, decreased urine output, and mood lability. He has a 10-
year history of “moderate” alcohol use and smoking. P/E finds hypertension, cutaneous striae, and truncal obesity. CXR shows evidence
of chronic bronchitis. Blood tests reveal increased glucose, ACTH, and cortisol levels, and decreased Na and K levels. Urinary WBC,
RBC, and protein are (-). The most appropriate next step is
A. 24-hour free urinary cortisol collection
B. high-dose dexamethasone suppression test
C. chest CT scan
D. aldosterone level test
E. adrenal CT scan
16. The patient in Q15 has a 24-hour free urinary cortisol level that is much higher than normal range. A high-dose dexamethasone
suppression test is done the following morning and shows persistently high levels of ACTH and cortisol. Now the best next step is
A. sphenoid MRI
B. high-dose dexamethasone suppression re-tests
C. chest CT
D. aldosterone level test
E. adrenal CT
17-21: Match the following clinical scenarios with the most likely diagnosis.
A. Secondary adrenal insufficiency
B. Addison disease
C. 3-beta-hydroxylase deficiency
D. 11-hydroxylase deficiency
E. 17-hydroxylase deficiency
F. 21-hydroxylase deficiency
G. Klinefelter syndrome
H. Kallmann syndrome
I. Pituitary hypogonadism
17. A female infant is found with ambiguous genitalia, dehydration, and hypotension; decreased serum Na, cortisol, and aldosterone;
increased serum K, 17-OH progesterone, DHEA, and ACTH.
18. A female infant is found with ambiguous genitalia, hypertension, low serum K, and high Na and DHEA.
19. A male infant is found with undeveloped genitalia, hypertension, low serum K, DHEA and estrogen, and high aldosterone and Na.
20. A 50 y/o man presents with intermittent weakness, paresthesia, cramping, dizziness, weight loss, cold intolerance, and emotional
lability. P/E finds HR = 55/min (bpm), BP = 90/50 mmHg and normal results with skin and muscles. Lab test results: serum Na = 130
mEq/L, K = 5.8 mEq/L, glucose = 70 mg/dL; ACTH is moderately decreased.
21. A 17 y/o boy comes for the P/E and is found with a tall figure, small testes, and gynecomastia. He also has poor school scores. Lab
tests find urinary 17-KS and serum testosterone are mildly low; LH, FSH, and estradiol are moderately high.
22. A 50 y/o man presents with intermittent tachycardia, palpitations, headache, sweating, and anxiety for the past mo. P/E finds T is
normal, HR = 120/min, BP = 160/120 mmHg. Lab tests reveal increased 24-hour urinary VMA and HVA. CT confirms an adrenal mass.
What’s the best treatment now?
A. Phentolamine
B. Phenoxybenzamine
C. Propranolol
D. Surgical removal
E. Phenoxybenzamine and propranolol
F. Phentolamine and propranolol
23. A 55 y/o man with lung cancer is brought to the ER after a few hours of oliguria, muscle weakness, and occasional convulsions. His
vital signs are stable. Lab testing reveals that serum Na+ = 125 and urine Na+ = 25 (mEq/L), urine osmolality = 50 mOsm/kg. The best
next treatment is
A. 3% saline followed by furosemide IV
B. diazepam in 100 ml of Nl saline (N.S.) IV
C. demeclocycline
D. lithium
E. water and fluid restriction
24. A 55 y/o man presents with lethargy, weakness, headache, irritability, polydipsia, and polyuria with about 5 L of dilute urine per day
for the past 2 days. He has a history of a mood disorder, which is recently unstable. Because of this, the patient is on a newly prescribed
medicine. P/E is mostly Nl. Serum Na, K, and Cl levels are all elevated, plasma osmolality is 400 mOsm/kg, and urine osmolality is 290
mOsm/kg. After water deprivation for 5 hours with ADH challenge, his urine osmolality is 300 mOsm /kg with similar volume. What’s
the best next step?
A. Head MRI
B. Desmopressin
C. Hydrochlorothiazide
D. Water intake increase
E. Water deprivation again
25. A 40 y/o obese woman presents with intermittent abdominal pain with rashes and loose stools for the past 5 days. Before these
symptoms, she had a history of painful rash on the lips a week ago, which is now healed. P/E finds normal vital signs and body
temperature. There is erythema with different-stage debris around the middle abdomen and mild tenderness in the RUQ. CBC is normal
and random plasma glucose level is 160 mg/dL. Abdominal CT scan is scheduled. The most likely diagnosis is
A. somatostatinoma
B. glucagonoma
C. diabetes
D. VIPoma
E. transient hyperglycemia
BASICS IN HEMATOLOGY
Sensitized CD4+ T-cells meet Ag and release lymphokines that activate macrophages or CD8+ T-cells. Activated CD8+ T cells
destroy target cells on contact, whereas activated macrophages produce hydrolytic enzymes and transform into multinucleated giant
cells. The reaction takes 2-3 days to develop. E.g., contact dermatitis (poison ivy), TB skin testing, transplant rejection, drug
fever, drug-induced hypersensitivity syndrome, Stevens-Johnson syndrome and toxic epidermal necrolysis, maculopapular
(including morbilliform) eruptions, and acute generalized exanthematous pustulosis.
PERALS: Drugs can induce any type of the above hypersensitivity reactions.
PRIMARY IMMUNODEFICIENCY DISORDERS
In immunodeficiency, infections are characterized by increased frequency and severity, a prolonged course, and
often by unusual microorganisms.
5-12: Match the following clinical scenarios with the most likely cause or diagnosis.
A. Iron deficiency
B. Intrinsic factor deficiency
C. Autoimmune IgM antibody (Ab)
D. Chronic disease
E. Hb synthesis deficiency
F. 2 alpha-gene deletions
G. 1 beta-gene deletion
H. 1 alpha-gene deletion
I. G6PD deficiency
J. RBC sickling
K. Aplastic anemia
L. Autoimmune IgG antibody
M. X-linked deficiency with RBC membrane
N. Autosomal dominant deficiency with RBC membrane
5. A 60 y/o man presents with recurrent URIs, weight loss, multiple LN enlargements without tenderness, and hepatosplenomegaly.
Blood tests reveal WBC = 70 x 103/uL with predominant LC and multiple “smudge cells”. LDH, bilirubin, and reticulocytes are
increased. HCT is low and MCHC% is high. Coombs’ test is (+).
6. A 50 y/o female presents with progressive fatigue, stomach discomfort, irritability; decreased appetite, position sense, urination sense,
vision, and memory for the past year. Her diet is regular. Lab tests: MCV = 110%, HCHb = 40g/dL, platelets = 10 x 103/uL, with
predominant macro-oval RBCs and many hypersegmented WBCs. The reticulocyte count is reduced.
7. A 40 y/o female presents with fatigue and decreased appetite for the past 3 months. P/E results are unremarkable except for pale skin
and mucosa. Lab tests reveal normal (Nl) WBC and platelets; Hb = 10 g/dL, MCV = 75 fL/cell, HCH = 19 pg/cell, TIBC = 400, and
decreased reticulocyte count.
8. A 60 y/o man presents with 3-month of fatigue, weight loss, and lymph node (LN) enlargement diagnosed as “lymphoma”. He has
skin yellowing for the past 3 days and his symptoms change with the weather. Lab tests: MCV = 90 fL/cell, HCH = 20 pg/cell; LDH,
bilirubin, and reticulocytes are all increased; HCT is low; Coombs’ test is (+).
9. A 20 y/o man presents with 3-month of progressive fatigue and weakness. P/E finds a pale, weak man. Blood tests: normal WBC and
platelet counts; normal levels of ferritin and HCHb; decreased HCT, MCV, and TIBC; multiple target cells. Hb-electrophoresis is
normal.
10. A 30 y/o man has a 3-month history of periodic jaundice, fatigue, and RUQ pain. His uncle has a similar history. Ultrasound shows
gallstones. Lab tests: normal WBC counts, MCV, LDH, and haptoglobin; decreased Hb and HCT; elevated MCHC, indirect bilirubin,
and reticulocyte count; fragility test is (+) and Coombs test is (-).
11. A 30 y/o man takes a long nap after a 2-hour swimming. When he wakes up, he has weakness, yellowing skin, dark urine, and
persistent left foot pain. P/E finds a cold, pale left foot with tenderness. Lab tests: normal WBC and MCV; decreased HCT, Hb,
haptoglobin, and CD59; elevated indirect bilirubin and reticulocyte count; fragility test is (+) and Coombs test is (-).
12. A 30 y/o Asian female presents with fatigability after exertion. She is otherwise feeling well. Blood tests reveal Hb = 10.5 g/dL, HCT
= 35%, and MCV = 75%. Hb-electrophoresis shows alpha2beta2 globins.
13-17: Match the following clinical scenarios with the best initial treatment.
A. Vit-K
B. Desmopressin
C. Clotting factor 8 and 9
D. IV platelets
E. Fresh frozen plasma (FFP)
F. FFP + platelets
G. vWF
H. Prednisone
I. Splenectomy
J. IVIG
K. Aspirin
L. Plasmapheresis
M. Heparin
N. Blood transfusion
13. A 25 y/o female presents with epistaxis, easy bruising, and dysfunctional uterine bleeding for the past month. P/E finds multiple
superficial petechiae and purpura; other results are normal. Lab tests reveal Hb = 10 g/dL, platelets = 50 x 103/uL; BT = 8.5 min; PT and
aPTT are normal; antiplatelet Ab is (+) and Coombs’ test is (-).
14. A 40 y/o female presents with fever, headache, and dry cough followed by weakness, confusion, and yellowing skin with purpura for
the past 3 days. P/E finds moderate fever, tachycardia, jaundice, multiple superficial petechiae, and splenomegaly. Lab test results: Hb =
9 g/dL, platelets = 40 x 103/uL; increased indirect bilirubin, creatinine, and BT; PT and aPTT are normal. Antiplatelet antibody and
Coombs’ tests are both (-).
15. A 10 y/o boy presents with easy bruising and joint swelling after a mild injury for the past mo. His uncle and he himself both have
history of periodic diarrhea and fatigue. Lab results: CBC is normal; PT and aPTT are prolonged; BT is normal.
16. An 18 y/o girl presents with easy epistaxis, petechiae, and prolonged menstruation for the past 3 months. She is otherwise fine. She
says that her aunt has a similar history in the past. Lab results: CBC, platelet count, PT, and aPTT are normal; BT is 8 min.
17. A 30 y/o man presents with progressive fatigue, bone pain, confusion, and easy bleeding from his gums and nose for the past 2
weeks. P/E finds moderate fever, tachycardia, hypotension, petechiae, and an enlarged liver, spleen, and LN. Blood tests reveal
pancytopenia, with predominant promyelocytes with granules and special bars. His BT, PT, aPTT, and d-dimers are all elevated.
18-25: Match the following clinical scenarios with the most likely diagnosis.
A. Hodgkin lymphoma (HL) stage 2
B. HL stage 3
C. Non-Hodgkin lymphoma (NHL)
D. CML
E. CLL
F. AML M3
G. AML M4-5
H. AML M6
I. Hairy cell leukemia
J. ALL
K. Leukemoid reaction
L. Multiple myeloma (MM)
M. Polycythemia
N. Waldenstrom macroglobulinemia (WM)
O. MGUS
P. Aplastic anemia
18. A 30 y/o man presents with fatigue, night sweats, abdominal distension, and several painless masses around the neck for the past 2
months. P/E finds fever, weight loss, hepatosplenomegaly, and multiple enlarged lymph nodes on both sides of the neck without
tenderness. Blood tests show anemia, high LDH, and WBC of 30 x 103/uL with predominant small lymphocytes (LC). CT reveals
additional enlarged lymph nodes in the abdomen.
19. A 30 y/o man presents with fatigue, night sweats, pruritus, abdominal distension, and several painless masses around the neck for the
past 2 months. P/E finds mild weight loss and multiple enlarged lymph nodes on both sides of the neck without tenderness. Blood tests
reveal anemia, high LDH, and WBC of 30 x 103/uL with predominant small lymphocytes. CT result is consistent with that of P/E.
Lymph node biopsy confirms the Dx.
20. An 8 y/o boy presents with fever, weakness, and frequent spontaneous nose bleeds over several days. P/E finds multiple enlarged
lymph nodes around the neck and hepatosplenomegaly. Blood tests reveal pancytopenia, numerous lymphoblasts, and positive PAS and
TdT. BM biopsy confirms the Dx.
21. A 15 y/o boy presents with weakness, fever, night sweats, reddish skin, and frequent spontaneous nose bleeds for the past week. P/E
finds multiple painless, enlarged lymph nodes around the neck, and hepatosplenomegaly. Blood tests reveal elevated RBC and WBC
counts, and both RBCs and WBCs show predominantly irregular outlines and increased nucleus/plasma ratio.
22. A 35 y/o man presents with progressive fatigue, night sweats, low-grade fever, bone pain, priapism, and hepatosplenomegaly for the
past month. Lab results: WBC = 250 x 103/uL, with predominant normally-shaped neutrophils with left shift and low AKP; basophils,
platelets, LDH, uric acid and B12 levels are all elevated. CD5 on T-cells is (+) but on B-cells is (-).
23. A 60 y/o man presents with progressive fatigue, pallor, petechiae, fever, bone pain, and hepatosplenomegaly for the past month. Lab
results: CBC reveals pancytopenia; blood smear shows well-differentiated B cells and mononuclear cells with abundant pale and
projected cytoplasm; TRAP staining is (+). BM biopsy confirms the Dx.
24. A 60 y/o man complains of periodic fatigue and muscle soreness for the past month. X-Rays show normal lungs and bone density.
Lab results: Mild elevation of IG levels, total protein = 8.5 g/dL, Ca = 11 mg/dL, BUN = 18 mg/dL; M-spike is shown in protein
electrophoresis. BM biopsy shows 4% plasma cells.
25. A 60 y/o man presents with progressive fatigue, cold limbs with bone pain, periodic priapism, sensational changes, and
hepatosplenomegaly for the past month. X-ray shows normal lungs and bone density. Lab tests: Elevated serum protein, IG and BUN
levels; M-spike in protein electrophoresis. BM biopsy: 7% abnormal plasma cells; PAS is positive.
26. A 11 y/o boy with acute lymphoblast leukemia (ALL) is treated with combined chemotherapy with daunorubicin, vincristine,
prednisone, asparaginase, and methotrexate. On the 3rd day, his serum Ca, BUN, and creatinine levels are elevated. His vital signs are
stable. The most likely cause of the acute kidney injury is
A. daunorubicin
B. vincristine
C. Hyper-Ca
D. hyperuricemia
E. prednisone
F. asparaginase
G. methotrexate
27-32: Match the following clinical scenarios with the most likely diagnosis.
A. Thymic aplasia
B. IgA deficiency (Def)
C. IgG Subclass deficiency
D. Ataxia-Telangiectasia
E. X-linked agammaglobulinemia (Bruton’s)
F. Wiskott-Aldrich syndrome
G. Common variable immunodeficiency
H. Severe combined immunodeficiency (SCID)
I. Leukocyte adhesion deficiency (LAD)
J. Chediak-Higashi syndrome
K. Chronic granulomatous disease (CGD)
L. C1 esterase deficiency
M. Terminal complement deficiency
27. A 3 y/o boy is brought to the physician for ear and knee pain. This is the third time this year that he has had these pains. P/E finds T =
39oC, HR = 100/min, swelling and tenderness of the left middle ear and the right knee, with erythematous rashes. Lab tests reveal (+)
ANA and HLA-B27, and increased WBCs.
28. A 4 y/o boy is brought to the physician for a sore throat, the third time this year that he’s had this problem. P/E finds T = 39oC, HR =
100/min, swollen tonsils with pus, and a painful right knee with erythematous rashes. He also had two “common colds” in the past
month. Lab tests reveal ANA (+) and low levels of lymphocytes and IG.
29. A 7 y/o boy is brought to the physician for ear pain and nose bleeding for the third time this year. P/E finds T = 39oC, HR = 100/min,
swelling and tenderness of the left middle ear, and erythematous rashes on the limbs. Lab tests reveal low lymphocytes, platelets, and
IgM; high IgE and IgA; and ANA (+). His uncle has a similar history.
30. A 7 y/o boy is brought to the physician for recurrent “painful red skin nodules”. P/E finds pale conjunctiva and lips, several swollen
lymph nodes, and multiple erythematous nodules with tenderness on the limbs. Lab tests reveal low Hb, high IG levels, and normal WBC
count. Catalase and NNT are (+). His uncle has a similar history.
31. A 2 y/o boy is brought to the physician for recurrent sore throat and fever. P/E finds T = 39oC, HR = 100/min, and swollen throat
with purulent exudate without tonsils seen. He was hospitalized twice for pneumonia in the past 3 months. Lab tests reveal very low
levels of B cells and high levels of WBCs and T-cell subsets.
32. A 5 y/o boy is brought to the physician for recurrent sore throat and a persistent, swollen, painful lesion on the left hand, for which he
had a paper cut 3 weeks ago. He had a similar sore throat and unhealed cut for the past 5 weeks. P/E finds T = 38.5oC, swollen tonsils
without pus, and a swollen, tender cut without pus on the hand. WBCs including B- and T-cell subsets are increased.
Note: pH and PCO2 (mmHg) are the two most important values to judge the acid-base disorder.
Henderson-Hasselbalch equation: pH = pKa + log {[HCO3-]/0.03 PCO2}
PCO2 = 1.5 [HCO3-] + 8 (mmHg);
PCO2 increases (Incr) by 10, HCO3- increases by 1 mEq/L (acute) or by 4 mEq/L (chronic).
PCO2 decreases (Decr) by 10, HCO3- decreases by 2 mEq/L (acute) or by 5 mEq/L (chronic).
New Reference Anion gap (AG) = [Na+] - {[Cl-] + [HCO3-]} = 3-10 mEq/L. If K+ is a considered factor, it should
be added with Na+. Note that hypoalbuminemia, hyperkalemia, hypercalcemia and/or hypermagnesemia may
reduce the AG.
Classification
1. Metabolic Acidosis
(1) AG acidosis (AG >10): Causes include salicylates, Fe, INH, lactic acidosis, diabetic ketosis, methanol, ethanol,
paraldehyde, ethylene glycol (causing urine Ca-oxalate crystal), and uremia.
(2) Non-AG acidosis (AG is Nl): Diarrhea, hyper-Cl metabolic acidosis, RTA, TPN (total parenteral nutrition),
acetazolamide or spironolactone intoxication, and Addison disease. First test is urinary AG (UAG). UAG = Urine
[Na+ + K+] – Urine [Cl-]; normal range: 0 to –50. A positive UAG indicates low or normal NH4 secretion. A
negative UAG means increased NH4 secretion.
Treatment
(1) Increase blood volume by IV infusion of normal saline (N.S.).
(2) Treat underlying causes as listed above.
(3) Supply NaHCO3 only when pH < 7.2.
2. Respiratory Acidosis
Hypoventilation due to CVA, COPD, restrictive pulmonary disease, foreign body obstruction, narcotics/sedatives,
pneumothorax, pleural effusion, flail chest, and head trauma.
Treatment
(1) Supply O2 and IV fluid and correct underlying causes.
(2) Chronic: Mechanical ventilation along with O2 supplement.
3. Metabolic Alkalosis
The most common type of acid-base disorders for in-patients.
(1) Responsive to NaCl: Due to vomiting, contraction alkalosis, diuretics, low blood volume, or villous adenoma.
Treat with N.S. along with KCl.
(2) Unresponsive to NaCl: Due to primary hyperaldosteronism, Cushing syndrome, or Barter syndrome (Cl-
absorption decreases, renin increases, etc.).
Treatment
(1) Treat underlying etiology: Cause of vomiting or gastric loss; stopping loop/thiazide diuretics or exogenous
sources of alkali; correcting hypokalemia.
(2) The most effective therapy is volume expansion with normal saline (primary Tx) plus KCl and
spironolactone or acetazolamide (if severe). IV infusion of HCl is used rarely and only with persistent metabolic
alkalosis.
4. Respiratory Alkalosis
Hyperventilation due to anxiety, pain, head trauma, CVA, asthma, CHF, PE, ASA intoxication, pneumonia,
thyrotoxicosis, mechanical ventilation, pregnancy (high progesterone), or hepatic failure (high progesterone).
Treatment
Treat and correct underlying causes.
TUBULOINTERSTITIAL DISEASES
Renal Tubular Acidosis (RTA)
Definition: RTA is a net decrease in either tubular H+ secretion or HCO3- reabsorption, which results in non-AG
metabolic acidosis. There are three main types as summarized below.
Deficiency (Def): NH4Cl and H+ secretion. Urine pH > 5.3, serum K+ is low; urine K+ is high; serum HCO3- = 16-20. Etiology:
Hereditary, SLE, Sjogren syndrome, amphotericin B, cirrhosis, nephro-calcification. Treatment (Tx): Supplement of
KHCO3.
Type 2 (proximal)
Deficiency: KHCO3 reabsorption decrease. Urine pH < 5.3, serum K+ is low; urine K+ is high; serum HCO3- < 15. It’s the only RTA
type with AG acidosis. Etiology: Hereditary, sulfonamides, Vit-D deficiency, carbonic anhydrase inhibitor, amyloidosis, chronic
hypo-Ca, chronic hepatitis, Wilson disease, Fanconi syndrome, myeloma, heavy metals. Treatment: Supplement of KHCO3; thiazide
diuretics.
Type 4 (distal)
Deficiency: Aldosterone insufficiency, No.1 common in chronic renal failure (CRF). Urine pH < 5.3, serum KCl is high, urine K+
is low, and serum Na+ is low. Etiology: Hypo-renin hypoaldosteronism, Addison disease, diabetes, hypertension, Sickle cell disease,
chronic interstitial nephritis, aldosterone resistance. Treatment: Fludrocortisone, NaHCO3; K restriction.
Acute Tubular Necrosis (ATN) and Acute Interstitial Nephritis (AIN)
Etiology
It is complex, including ischemia, drugs, toxins, and autoimmune damages, etc. These causes can also lead to
tubulointerstitial nephritis.
1. Ischemia: Severe fluid or blood loss.
2. Toxins and drugs:
(1) Pigment—hemoglobinuria (from hemolysis); myoglobinuria (from rhabdomyolysis by surgery, trauma,
seizure, etc). Diagnostic tips for rhabdomyolysis: urine dipstick test will only be (+) for significant hematuria, but
no RBC will be seen under microscope. Serum CPK (markedly), potassium and uric acid levels are increased, and
calcium is decreased (due to the Ca binding to damaged muscle). Treatment: (a) saline hydration; (b) mannitol for
osmotic diuresis; (c) NaHCO3 for reducing Hyper-K and renal precipitation of myoglobin.
Note: Urine dipstick analysis cannot distinguish among hemoglobin, myoglobin, and RBC.
(2) Contrasts: can cause immediate renal toxicity, especially with old age, dehydration, diabetes, renal disease,
and myeloma; preventable with saline hydration.
(3) Metals: Lithium, lead, mercury, or gold can cause nephrogenic DI.
(4) Protein: Myeloma --Bence-Jones protein is directly toxic to renal tubes.
(5) Analgesics: Female:male = 5:1. Phenacetin (and its metabolite acetaminophen) and aspirin (with synergism) are
common. NSAIDs cause a combination of interstitial nephritis, direct toxic effect, papillary necrosis, and inhibition
of vasodilators (by PG inhibitors). Analgesics can cause ATN or/and papillary necrosis more easily with renal
underperfusion or ischemia.
Diagnosis of analgesic nephropathies: (a) History of ingestion 1g/d for 1-3 years; (b) sterile pyuria, hematuria,
flank pain, and mild proteinuria. Treatment is supportive.
(6) Antibiotics – usually non-oliguric: aminoglycoside (10-30% cases, usually with1-week delayed reactions),
cephalosporins, tetracycline, methicillin, and amphotericin B. Hypo-K or hypo-Mg may increase risk of the
drug toxicity, which is mostly dose-dependent.
(7) Anti-cancer drugs -- non-oliguric: cisplatin, methotrexate, cyclosporine, and mitomycin.
(8) Hyperuricemia: usually from acute tumor lysis syndrome. Long-standing hyperuricemia from gout can result in
chronic renal failure.
3. Autoimmune diseases: Goodpasture syndrome, Wegener granulomatosis, polyarteritis nodosa, Henoch-Purpura,
etc.
4. Radiation: With doses above 2,000 rads to the kidneys.
Clinical features of ATN --three phases (after renal ischemia)
1. Prodromal: The time between the damage and the onset of renal failure.
2. Oliguric (< 400 mL/d) or anuric (< 100 mL/d).
3. Post-oliguric: A recovery diuretic phase.
Clinical features of AIN
1. Mostly caused by drugs— NSAIDs, penicillins (PCN), sulfonamides (antibiotics and diuretics), anti-TB drugs
(rifampin as No.1), vancomycin, ciprofloxacin, erythromycin, tetracycline, allopurinol (also associated with hepatic
injury), etc. Some are due to infections or idiopathic reasons.
2. Common presentations include fever, rash, and abnormal urine.
3. Lab tests: Blood—Increased IgE and eosinophils; urine--eosinophiluria, hematuria, and proteinuria (< 2g/24h).
Biopsy usually shows normal glomeruli with interstitial edema and eosinophils.
Treatment of ATN and AIN
1. Potentially offending agent should be immediately discontinued. Adequate IV fluid +/- short-term diuretics is the
main prevention and therapy for ATN. Treatment of underlying cause and symptoms should be addressed. No
additional therapies are required in most cases of ATN and AIN with minimal elevations in the serum creatinine due
to their self-limited nature.
2. Biopsy-confirmed or moderate to severe cases of acute interstitial nephritis should be treated with short-term
glucocorticoids, except for NSAID-induced AIN, which has a poor response.
KIDNEY INJURY
Acute Kidney Injury (AKI)
AKI, previously called acute renal failure (ARF), is an abrupt loss of kidney function and increase in BUN and
creatinine that develops usually in 7 days. By its various etiologies, it can be divided into pre-, intra- and post-
renal azotemia.
The two major causes of acute kidney injury (AKI) developing in the hospital are prerenal disease and acute tubular
necrosis (ATN). Decreased kidney function due to prerenal disease occurs when renal ischemia is part of a
generalized decrease in tissue perfusion and when there is selective renal ischemia. ATN can occur with prolonged
and/or severe ischemia. This can result in histologic changes, including necrosis.
There are many causes of glomerular disease and most patients present with either nephrotic or nephritic pattern,
which is based upon the urine sediment and the degree of proteinuria. Hepatitis C-associated nephropathies include
membranous nephropathy, mixed cryoglobulinemia syndrome, and polyarteritis nodosa.
Differential diagnosis
Granulomatosis with polyangiitis (also see “Diseases of the Respiratory System):
Definition and etiology: Granulomatous inflammation of the respiratory tract with necrotizing vasculitis of small
and medium-sized vessels, a form of polyarteritis
nodosa.
Diagnosis: (1) URI (sinusitis, stomatitis, otitis) + hemoptysis +/- hematuria (renal vessel lesions). (2) CXR:
Lower respiratory infection/inflammation (bilateral pulmonary lymphadenopathies). (3) Lab: Hematuria,
cANCA (+), and cell-mediated immunoreactions.
Treatment: High-dose glucocorticoids and cytotoxics. Prognosis: May relapse after remission.
Anti-GBM antibody (Goodpasture) Disease:
Definition and etiology: An idiopathic glomerulonephropathy (GN) with pulmonary capillary hemorrhage caused
by anti-GBM and anti-pulmonary capillary membrane antibodies, a type 2 hypersensitivity reaction. It’s also
considered an alveolar filling disease (see Chapter
3).
Diagnosis: (1) Dyspnea, hemoptysis (peripheral pulmonary capillary infiltration), respiratory failure, and
hematuria. (2) Worsened CXR (pulmonary infiltrates). (3) Lab: Hematuria, proteinuria, anti-GBM antibody
(+), oliguria, renal failure (high BUN/Cr ratio). Iron deficiency anemia, hemosiderin-filled macrophages in
sputum. Renal biopsy: Linear deposit of immuno-
complex.
Treatment: (1) If renal biopsy show < 30% crescents: Pulse prednisone +/- cyclophosphamide. (2) If biopsy shows
> 70% crescents: Prednisone + cyclophosphamide + plasmapheresis. Prognosis: Variable.
Nephrotic Syndrome
Nephrotic syndrome is a result of injury to the glomerular filtration barrier, which increases its permeability and
generates two characteristics--urine protein excretion and hypoalbuminemia.
PEARLS--Classic features of nephrotic syndrome:
(1) Peripheral edema; (2) Proteinuria (> 3.5 g/24h) and lipiduria; (3) Hypoalbuminemia (albumin < 3 g/dL)
and hyperlipidemia; (4) Oval fat bodies and bland sediment in the urine.
Etiology
All vasculitides and glomerular nephropathies (GN), as well as diabetes, SLE, amyloid disease, and multiple
myeloma, etc, can lead to nephrotic syndrome, and eventual renal failure. Hepatitis C-associated nephropathies
include membranous nephropathy, mixed cryoglobulinemia syndrome, and polyarteritis nodosa.
Differentiation
Membranoproliferative glomerulonephritis (MPGN):
Also known as mesangiocapillary glomerulonephritis, MPGN is a heterogeneous chronic glomerulonephritis that
share mixed nephritic and nephrotic features and microscopic findings. They mostly affect children. The main
cause is immune complex deposition that is idiopathic or secondary to a systemic disorder. It is also associated with
hepatitis B and C.
Clinical features and diagnosis
1. It is often associated with or secondary to SLE (lupus nephritis) or HCV or/and other viral/bacterial
infections, clinically with very variable hematuria, proteinuria, and hypertension.
2. Lab tests typically show hypocomplementemia (especially low C3), which indicates the disease activity.
Diagnosis is made by renal biopsy, which will show immune complex (IgG and C3) deposits in the glomerulus
and thickening of the glomerular basement membrane under light microscopy.
Treatment
Symptomatic treatment along with prednisone or/and cytotoxics. Prognosis varies and usually progresses to end-
stage chronic kidney disease.
Chronic Kidney Disease; Chronic Renal Failure
Chronic kidney disease (CKD), also known as chronic renal failure (CRF), is a progressive loss in renal function
over a period of months or years due to varieties of causes.
Etiology
1. Diabetes—No.1 cause of CRF with over 7 years of proteinuria.
2. Hypertension—No.1 common in cases without diabetes but with renal artery sclerosis.
3. Glomerulonephritis and glomerulonephropathy.
Essentials of diagnosis
1. History of chronic renal diseases, diabetes, or CVD; commonly presenting with edema, hypertension, anemia, GI
symptoms, neuropsychologic changes, etc.
2. Lab tests: Increased BUN:creatinine ratio, phosphate (P2), and K+; decreased Ca2+, HCO3- , and Hb. Urine
analysis: proteinuria, tubular cast; urine gravity = 1.010 (same as in the serum).
Treatment
1. Cessation of offending agents. Restriction of protein intake and early use of ACE-I are important treatment to
reduce mortality. However, if creatinine > 3 and urine protein > 3+ with hypertension, ACE-I may worsen renal
function, thus only protein restriction is indicated.
2. Symptomatic treatment: Supply Ca, NaCO3- , glucose, and insulin. Add Ca in food if PTH and phosphate (P2) are
high and Ca2+ is low in the blood.
3. Erythropoietin helps with anemia. Adverse effects: (1) Hypertension; (2) headache; (3) Flu-like symptoms.
4. Dialysis: Indications—“AUOK”: Acidosis, Uremic syndrome, Overloaded (fluid), K+ > 6.5 mEq/L.
Hemodialysis is better than peritoneal dialysis.
5. Kidney transplantation should be prepared early because of its great potential for cure.
Complications — End-stage renal failure
1. MI: Now it’s the No.1 cause of death in renal failure; infection is the No.2. Platelet dysfunction is the No.1
cause of bleeding in uremic syndrome.
2. Uremic syndrome:
(1) CVS dysfunction: pericarditis, hypertension, CHF, and atherosclerosis.
(2) Hematologic: anemia, low lymphocytes (increased infection), and increased bleeding time (BT).
(3) GI dysfunction: nausea and vomiting.
(4) Neurologic: polyneuritis, encephalitis, and seizure.
(5) Osteodystrophy: secondary PTH increase, metastatic calcification, bone pain, osteomalacia and osteitis fibrosa.
Treat it with Vit-D, Ca, and P2-binders (Amphojel).
(6) Hyperuricemia (itchy).
Treatment of uremia: (1) Diet: Protein, K, Na and fluid restriction. (2) Dialysis. (3) Renal transplantation.
3. Electrolyte disorder—“3 highs 3 lows”: High K+, phosphate (P2), and Mg2+; low Na+, Cl-, and Ca2+ in the
serum.
(1) Hypo-Ca and hyper-P2: Due to decreased 1, 25 (OH)2 D2 in the kidney and peripheral resistance to PTH,
resulting in increased fecal loss of Ca, decreased urinary P2-secretion, and the deposition of Ca-P2 in soft tissue. The
secondary hyper-PTH eventually leads to Ca leaching from bones.
(2) Hyper-Mg: Secondary to decreased urinary secretion. Treatment is avoidance of Mg-containing drugs.
FLUID AND ELECTROLYTE DISORDERS
Hyponatremia
Definition: Serum Na+ <135 mEq/L without hyperglycemia or hyperlipidemia.
Etiology
1. Hypervolemic status: Secondary to decreased intra-vascular volume (Baro-receptor reflex), ADH production, and
free-water clearance; commonly seen in CHF, nephrotic syndrome, cirrhosis, and renal insufficiency.
2. Hypovolemic status: GI losses (vomiting, diarrhea, nasogastric suction), diuretics, sweating, burns, hypotonic
over-fluid, and Addison disease.
3. Euvolemic status: Psychogenic polydipsia (>10 L/d intake), hypothyroidism, SIADH, CNS and pulmonary
disorders (infection, embolus, tumor, trauma, shock, asthma, etc), and drugs (oral hypoglycemics, anti-metabolics,
etc.).
4. Pseudohyponatremia: Hyperlipidemia and hyperglycemia.
Essentials of diagnosis
1. Symptoms appear when Na+ < 125 mEq/L, all neurologic: headache, lethargy, obtundation, and eventual coma
and seizures. Severe manifestations occur if Na+ < 120 mEq/L.
2. Serum Na+ < 135 mEq/L; urine osmolality > serum osmolality; urine Na+ > 40 mEq/L.
Treatment
Na correction should be gradual. Rapid correction can result in central pontine myelinolysis—brainstem lesion,
showing paraparesis, dysarthria, or dysphagia.
1. Mild (serum Na+ = 120-130 mEq/L): Fluid restriction to < 1L.
2. Moderate (Na+ = 110-120 mEq/L): Loop diuretic and normal saline (N.S.) to remove net free-water.
3. Severe (Na+ < 110 mEq/L plus symptoms): Hypertonic saline IV.
Hypernatremia
Definition: Serum Na+ > 155 mEq/L.
Etiology: Mostly due to insensible losses.
1. Extra-renal loss: Increased loss through the skin (sweating, burns, fever, and exercise), respiratory or GI tract
infections, or osmotic/infectious diarrhea.
2. Renal: Idiopathic (most common), nephrogenic DI (including lithium use), chronic glomerulopathy, hyper-Ca,
hypo-K, demeclocycline, sickle cell disease, central DI, trauma, infection, tumor, osmotic dieresis—diabetic
ketoacidosis, nonketotic hyperosmolar coma, mannitol, or diuretics.
Essentials of diagnosis
1. Primarily with neurologic symptoms: Lethargy, weakness, irritability, seizures, and coma are present with any
severe hyper-Na.
2. DI gives a dilute diuresis of 3-20 L/day.
Treatment
1. Acute: Isotonic fluids IV. Correction of Na should be less than 1 mEq/2hour. Complications of overly rapid
correction include cerebral edema, permanent neurologic damage, or seizures.
2. Central diabetes insipidus: Give vasopressin (ADH) and try to correct the underlying cause.
3. Nephrogenic diabetes insipidus: Stop irritable agents and give thiazides or NSAIDs, which work by inhibiting
prostaglandins (PGs, which impair concentrating ability) and enhancing ADH actions.
Hypokalemia
Definition: Serum K+ < 3.5 mEq/L.
Etiology
1. Alkalosis—transcellular shift: H+ out and K+ in. Increased insulin promotes K+ into cells with glucose.
2. GI Loss: Vomiting, diarrhea, and tube drainage; low oral intake (rare).
3. Increased urinary loss: Primary hyperaldosteronism (Conn syndrome), diuretics, diabetic ketoacidosis, Cushing
disease, licorice, renal tubular acidosis, etc.
4. Bartter syndrome: Due to primary deficiency in Na+-Cl- reabsorption from Loop of Henle, it causes high levels
of renin and aldosterone but normal BP.
Essentials of diagnosis
1. (1) Symptoms start when K+ < 3.0 mEq/L—muscle weakness, paralysis, cardiac arrhythmias. (2) ECG shows U-
wave and T-wave flattening (Image 4). Nephrogenic diabetes insipidus may or may not be present.
2. Bartter syndrome: There are high levels of renin and aldosterone, normal BP, and severe hypo-K and hypo-Cl
alkalosis.
Treatment
1. Correction of underlying cause and oral supply of KCl is the best treatment.
2. IV KCl should be very slow and only for severe hypo-K, with N.S. or ½ tension N.S. Potential complication of
too rapid KCl infusion is fatal arrhythmia.
Hyperkalemia
Definition: Serum K+ is > 5.5 mEq/L.
Etiology: Increased oral or IV intake along with impaired renal excretion (renal failure).
1. Acidosis (H+-K+ exchange): High H+ into cells and K+ out; insulin deficiency.
2. Tissue breakdown: Rhabdomyolysis, tumor lysis, or post-seizures/vigorous exercise.
3. Hypo-aldosteronism: Type 4 renal RTA, ACE-I, heparin inhibition of aldosterone, Addison disease,
adrenalectomy, K-sparing diuretics (triamterene, amiloride, spironolactone), or NSAIDs.
4. Periodic paralysis: Recurrent, mild, brief episodes of muscle weakness with mild increase in K+. Family history is
usually present.
Essentials of diagnosis
1. Muscular weakness (usually K+ > 6.5 mEq/L) and hypoventilation.
2. ECG: Peaked T waves, widened QRS, short QT, or prolonged PR (Image 4). Abnormal cardiac conduction is
the No.1 cause of death.
Treatment
1. CaCl2 IV: In urgent case with abnormal ECG, giving immediate and short-lived effect on membrane stabilization.
2. NaHCO3 IV: Alkalosis drives K+ into cells. Avoid giving it together with Ca+2 (because it will form CaCO3
precipitate).
3. Glucose and insulin IV: Drives K+ intracellularly, takes > 30 min to work.
4. Others: Diuretics are commonly used to excrete K+ and Na+. Kayexalate (Cation exchange resins) absorbs K and
releases Na effectively; given with sorbitol (to prevent constipation) and combined with the above treatment. Beta-R
agonists also have anti-hyper-K effect.
5. Dialysis: Indicated when K+ > 6.5 despite other treatment.
Contraindication
NSAIDs should never be used with K-saving diuretics or ACE-I in elderly patients or with renal failure, to
avoid fatal hyperkalemia!
Hypomagnesemia (Hypo-Mg)
Definition: Serum Mg is < 1.8 mg/dL.
Etiology
1. GI causes: Malabsorption, steatorrheic states (most common cause); prolonged fasting; fistulas.
2. Alcoholism (No.1 common).
3. Renal losses: SIADH, diuretics, Bartter syndrome, drugs (gentamicin, amphotericin B, cisplatin), renal
transplantation.
Essentials of diagnosis
1. Marked neuromuscular and CNS hyperirritability: (1) Muscle twitching, weakness, tremors; (2) hyperreflexia,
seizures; (3) mental status changes.
2. Effects on Ca2+ and K+ levels: Commonly coexisting with hypo-Ca2+ (because of decreased PTH and bone
resistance to PTH with hypo-Mg); 50% coexisting with hypokalemia.
4. ECG changes: prolonged QT interval, T wave flattening, and eventual torsade de pointes.
Treatment
1. For mild hypo-Mg: oral magnesium oxide (MgO).
2. For severe hypo-Mg: IV MgSO4.
Hypermagnesemia (Hyper-Mg)
Definition: Serum Mg is > 2.5 mg/dL.
Etiology
1. Renal failure (No.1 common); adrenal insufficiency.
2. Early-stage burns, massive trauma or surgical stress, rhabdomyolysis, severe ECF volume deficit, severe acidosis,
excessive ingestion of Mg-containing agents.
Essentials of diagnosis
1. Nausea, weakness; facial paresthesia; progressive loss of deep tendon reflexes; later—muscular paralysis and
coma. Death is usually caused by respiratory failure or cardiac arrest.
2. ECG changes resemble those with hyperkalemia—prolonged P-R interval, widened QRS complex, and elevated T
waves.
Treatment
1. Stop exogenously administered Mg, along with normal saline and furosemide.
2. IV administration of Ca-gluconate for severe symptoms (cardioprotection).
3. Dialysis is indicated in renal failure cases.
NEPHROLITHIASIS
Nephrolithiasis refers to renal stone formation due to increased Ca, P2, oxalate, uric acid, and cysteine in the body.
It occurs in 1-5% of the population. Composition of stones: Ca-oxalate 70%, Ca-phosphate 10%, Mg/Al-phosphate
(Struvite) 5-10%, uric acid 5%, and cysteine 1%.
Etiology
1. Hypercalcemia: (1) Increased absorption; (2) Vit-D intoxication +/- granulomatous disease; (3) familial or
idiopathic renal hypercalciuria; (4) Hyper-PTH (Ca-phosphate); (5) cancer: multiple myeloma, or metastasis to
bone.
2. Hyperoxaluria--mainly idiopathic: (1) With fat malabsorption, Ca binding with fat and increased oxalate
reabsorption; (2) hypocitraturia: decreased citrate-Ca binding and increased Ca absorption (facilitated by acidic
conditions).
3. Uric acid stones: Formed in acidic conditions (pH < 5.5) and associated with diseases such as gout, Crohn
disease, and hematologic cancers. It’s the only radiolucent stone here.
4. Struvite stones: UTIs with urease-producing organisms (Proteus, Staphylococcus, Pseudomonas, and Klebsiella)
generates highly alkaline urine that produces struvite stones.
5. Cystinuria: Only associated with genetic disorders.
Essentials of diagnosis
1. Constant or paroxysmal flank pain -- non-colicky, waxes and wanes, radiating to groin; gross or microscopic
hematuria; often accompanied with nausea, vomiting, dysuria, and urinary urgency.
2. More than 80% stones can be found by an initial ultrasound and plain x-ray examination. Some patients are
diagnosed asymptomatically during imaging for other purposes.
3. Intravenous pyelogram (IVP) is the best means to confirm diagnosis (stone or tumor). Helical CT can help
diagnose other causes of flank pain (tumor, abscess, etc). Testing of serum and urine Ca may also help determine
etiology.
Treatment
1. Analgesia, hydration and bed rest are the major treatment. Stones ≤ 5 mm can usually pass spontaneously--
observation. Both tamsulosin and nifedipine have been shown to increase the likelihood of stone passage for sizes
≤ 10 mm.
2. For stones 5-10 mm with symptoms: Shockwave lithotripsy is the best initial therapy. If stones and symptoms
persist or/and stones > 10mm, percutaneous nephrolithotomy can be the effective therapy.
3. Complications: Persistent renal obstruction and even permanent renal damage may occur if left untreated.
RENAL CYSTIC DESEASES
Polycystic Kidney Disease (PKD)
AKD is inherited as an autosomal dominant or recessive trait. Autosomal dominant PKD (ADPKD) is caused by
mutations of either PKD1 or PKD2 genes. PKD1 mutations are more common and cause more severe disease than
PKD2 mutations. Autosomal dominant PKD as for most adults may end in renal failure by 60 y/a in about 50%
cases. The autosomal recessive PKD is rare and mostly found in infants and young children that may lead to early-
year death. Etiology is unclear.
Essentials of diagnosis
1. Family history, flank pain, hematuria (micro and gross), infections, and evidence of calculi. It may also be found
asymptomatic on screening of family members. Extra-renal manifestations include hypertension (No.1), hepatic
cysts (50%), colonic diverticula, intracranial aneurysm, or mitral valve prolapse. Family history is helpful but not
necessary.
2. P/E may find large, palpable kidneys, combined with hypertension: suggestive of the disease.
3. Ultrasound or CT scan confirms diagnosis by showing multiple cysts in bilateral kidneys; total number depends
on age.
Treatment
1. Conservative therapies of early, strict control of blood pressure (ACE-I), UTI and calculi, a low-salt and low-
protein diet, and use of statins are major steps of treatment to prevent symptoms and cardiovascular complications.
2. Dialysis or renal transplantation is indicated in end-stage renal failure (a frequent complication).
Differential diagnosis
Simple renal cysts:
It is common and may have similar, milder manifestations of ADPDK but normal kidney size and BP, occasional
hematuria, and less family history. If there is a smooth wall without debris in the cyst, no further therapeutic or
diagnostic tests are needed. Persistent cysts with irregular walls or debris inside should be aspirated for pathologic
examination to exclude malignancy.
Acquired renal cysts:
Usually in patients with dialysis with small kidney size, occasional hematuria, variable hypertension; may be
associated with adenocarcinoma in cysts; always leading to renal failure.
Medullary sponge kidney:
A rare, non-inherited disease; 40-60 y/a; normal kidney size, cysts may exist in collecting ducts; associated with
renal calculi and UTI; usually not associated with hypertension, hematuria, or renal failure.
Medullary cystic kidney:
Rare, autosomal dominant inheritance, adulthood onset; small kidney size with cysts; normal BP, polyuria, salt
wasting, always leading to renal failure.
Urinary stone disease:
(1) Flank pain and hematuria; (2) Nausea and vomiting; (3) Diagnosed by CT scan.
UROGENITAL NEOPLASMS
Renal Cell Carcinoma (RCC)
RCC is the most common form of kidney cancer arising from the renal tubule. It occurs more common in male over
55 y/a. Etiology is unknown. The No. 1 risk factor is smoking. Others include family history, inherited disease
(such as von Hippel-Lindau disease), etc.
Essentials of diagnosis
1. The classic triad is painless hematuria, flank pain, and an abdominal mass, but now known as the “late
triad” beyond a curative stage. Most cases are asymptomatic and accidentally detected on imaging for other
purposes.
2. Other symptoms include fever, sweats, malaise, constipation, anemia or plethora (due to decreased or increased
erythropoietin), hypertension, Hyper-Ca, weight loss, visual deficiency, female hirsutism, and varicocele (mostly on
the left, due to tumor blockage of the left gonadal vein and left renal vein).
3. Diagnostic steps:
(1) If no mass is palpable, ultrasound can be the initial diagnostic test.
(2) If P/E reveals a mass: CT can be the best initial exam.
(3) IVP with cystoscopy is the most precise method to define the tumor (and stones, cysts).
(4) Asymptomatic screening by ultrasound +/- CT can be considered in patients with 1) inherited conditions (Von
Hippel-Lindau syndrome and tuberous sclerosis); 2) end-stage renal disease; 3) a strong family history of RCC; 4)
prior kidney irradiation.
4. Staging (Anatomic stage/prognostic groups):
I (T1): Within the capsule, 5-year survival 75%;
II (T2): Outside capsule but within Gerota’s fascia, 5-year survival 50%;
III (T1N, T2N or T3+/-N): Metastasis to lymph nodes (LN);
IV (T4N+/-M): Metastasis to distant organs.
PEARLS: Differentiation of hematuria
1. Urethra (injury): Initial hematuria.
2. Bladder (injury, cancer): Terminal hematuria.
3. Above the bladder (renal injury or cancer): Mixed hematuria.
Treatment
1. Surgical resection is the most effective treatment of RCC (Stage I, II, or III). RCC is resistant to most Chemo-
/radio therapies.
2. For elderly patients and those with significant comorbid disease, ablative techniques (cryoablation,
radiofrequency ablation) are an alternative.
3. For advanced clear cell RCC: immunotherapy with high-dose interleukin-2 (IL-2), pazopanib or sunitinib is the
first-line treatment.
Benign Prostate Hyperplasia (BPH)
BPH is an increasingly common benign prostate enlargement as part of the aging process usually after 50 y/a. It
may lead to partial obstruction of the urethra with related symptoms. The pathologic feature is central hyperplasia
of the epithelial component (compared to prostate cancer with peripheral dysplasia). Etiology is unknown.
Essentials of diagnosis
1. Obstructive symptoms in an elder patient: Urinary hesitancy or retention, intermittent stream, and terminal
dribbling; irritative voiding symptoms +/- opening hematuria.
2. DRE (digital rectal exam): Smoothly enlarged prostate, mostly in the center and may not be detected.
3. Urine analysis (U/A) +/- culture can rule out infection or hematuria due to cystitis or prostatitis. Creatinine test is
done for suspicious obstruction and renal failure.
4. Ultrasound-guided biopsy of suspicious mass. Upper UT-imaging or PSA testing is little helpful.
Treatment
1. Watchful waiting: Observe and monitor mild symptoms, as many cases may shrink with age.
2. Medications:
(1) The No.1 choice is alpha-R blocker tamsulosin, with high selectivity on prostate and bladder smooth muscle
and least S/E.
(2) Terazosin can also be used with gradual dosing to reduce S/E (BP decrease, reflux ejaculation).
(3) Finasteride (5-alpha-reductase inhibitor) is effective in reducing blood flow and obstruction when the prostate is
> 40g, with similar therapeutic effects as tamsulosin.
3. Surgery:
(1) For patient with moderate symptoms, transurethral resection is indicated.
(2) With severe obstructive symptoms, open prostectomy is recommended.
Prostate Cancer
It’s the most common cancer (in male) and second cause of cancer death in male. It is mostly an
adenocarcinoma originated from the peripheral zone of the prostate. It commonly metastasizes to bone.
Risk factors: There is no clear single risk factor; may be associated with high level of testosterone and sexual
activity, smoking, senior age, diet, occupation, family history, Black race, etc.
Essentials of diagnosis
1. Patient is usually asymptomatic until obstructive symptoms on voiding similar to benign prostatic hypertrophy
appear, with progressive urine retention, decreased urinary stream, weight loss, and back/bone pain (bone metastasis
–“Mets”).
2. DRE (digital rectal examination) may reveal an asymmetric, rock-hard, discrete peripheral nodule if beyond early
stage. Biopsy is required with an abnormal DRE result found, regardless of PSA levels.
3. PSA (prostate specific antigen) is usually markedly elevated (> 4 ng/ml) with prostate cancer. A PSA level
substantially above normal for a certain age may be an indication for biopsy. A change from prior values (more than
0.35ng/mL/year for a PSA of <4.0 or 0.75ng/mL if the PSA is >4.0) is suspicious. Transrectal ultrasound-guided
biopsy is required to confirm the diagnosis.
4. CT helps determine lesion extent and therapy. With bone pain (metastasis), it is best diagnosed by bone Scint99-
scan. Gleason histology system helps determine the cancer grade.
5. Staging: Combined TNM and anatomic (I—IV) staging systems are used for therapeutic guidelines and prognosis.
Nomograms are accurate predictive tools to assist in choosing the optimal therapy.
Management
1. Patients > age 70 with a suspicious nodule or cancer, no PSA or FNB is needed and just let it go naturally,
because most patients with prostate cancer die of other diseases and many cases with well-differentiation do not
progress without treatment.
2. For Stage I (T1a)—IIa (T1c-T2b) tumor:
(1) > age 65: Follow up PSA and DRE per 6-12 months.
(2) < age 65: radical prostectomy plus radiation. Common complications after surgery include incontinence and
erectile dysfunction. Nerve-sparing surgery can reduce adverse effects.
3. Stage IIb (T2c)—III (T3a/b): Radiation.
4. Stage IV (T4+/-N1+/-M, distant metastasis):
(1) Choose palliative radiation along with androgen ablation therapy--GnRH agonist leuprolide (No.1) plus
androgen-R blocker flutamide, to avoid “flare phenomenon”.
Flutamide S/E: Male breast enlargement, hepto-toxicity, GI-toxicity, increased warfarin-toxicity.
(2) Orchiectomy is another option. This and hormonal therapy can help control the size and progression of
metastases, but cannot prevent recurrences.
5. Gleason grading: It’s a measure of the malignant potential of prostate cancer. A high Gleason grade suggests a
greater benefit of surgical resection of the prostate (early).
6. PSA follow-up is beneficial for prognosis in all post-treatment patients. PSA screening among healthy men has
not shown clear mortality benefit; a normal PSA does not exclude the possibility of prostate cancer.
7. Non-beneficial management: “screening imaging study”, lumpectomy, or chemotherapy. None of these has a
clear mortality benefit.
Prevention and screening
According to USPSTF, men are generally not recommended to be screened for prostate cancer because there is
moderate certainty that the (survival) benefits of such screening do not outweigh the harms. If a patient with risk
factors has discussed with the physician and decided to be screened, PSA tests at intervals of 2-4 years are
recommended. DRE is not recommended as part of the screening. Screening should be stopped after age 69 or
earlier when comorbidities limit life expectancy to <10 years.
Bladder Cancer
It’s the second most common urologic cancer. 90% of bladder cancers are transitional cell carcinomas. The most
common route of spread is local extension to surrounding tissues. The prevalence pattern is male more than female
and mostly older than 60 y/a.
Risk factors: smoking, industrial carcinogens (aniline dye, azo dyes), radiation, long-term use of
cyclophosphamide, chronic bladder infections, urinary stones, biologic agents (artificial sweeteners), etc.
Essentials of diagnosis
1. The most common presentation is painless, gross hematuria at terminal urine, +/- irritative voiding symptoms
(frequency, urgency, and dysuria). In early stage, most patients are asymptomatic.
2. Urine analysis is useful in showing macro- or microscopic hematuria and ruling out infection. Cystoscopy plus
biopsy are diagnostic (detecting malignancy). IVP can be used to determine upper UT lesion, with possible bladder
filling defects.
Treatment--Depending on combined TNM and anatomic (0—IV) staging
1. Stage 0a (Ta), superficial, limited to mucosa, diameter of about 1 cm: Complete transurethral resection the tumor
plus intravesical chemotherapy is the best treatment. It is likely to recur after removal.
2. Stage 0is (Tis), larger, high-grade recurrent cancer and muscle invasive carcinoma-in-situ: Intravesical
chemotherapy -- gemcitabine plus cisplatin or the methotrexate, vinblastine, doxorubicin, cisplatin (MVAC)
regimen. Post-chemotherapy cystectomy is generally preferred.
3. Beyond stage I (T1, involving lamina propria) and invasive cancer without metastasis (Stage II –T2a/b; Stage III –
T3a/b; T4a): Aggressive resection plus chemotherapy.
4. Stage IV (T4b +/- N1+/- M1) --cancer with distant metastasis: Chemotherapy only.
Testicular Carcinoma
It is a rare cancer of the testis, mainly affecting young men (20-35 y/a). 95% of cases are testicular germ cell tumors
(GCTs, seminoma and nonseminoma), and the rest are nongerminal (Leydig-cell, Sertoli-cell gonadoblastoma).
Almost all testicular nodules are malignant. Testicular germ cell tumors (GCTs) are among the most curable solid
neoplasms, with about 95% of five-year survival rates.
Essentials of diagnosis
1. Patient usually presents with a (right-side) painless nodule accidentally found, confirmed by ultrasound (no
transillumination) and orchiectomy. Do not perform fine needle biopsy (FNB) to avoid spreading.
2. Blood testing for tumor markers and follow-up: PLAP, alpha-FP, beta-hCG, etc. LDH and CEA may increase
non-specifically.
(1) Germ Cell tumors (95% of cases):
Seminoma: Placental alkaline phosphatase (PLAP) increases markedly.
Embryonic carcinoma: Alpha-FP increases markedly; beta-hCG increases in 50% of patients.
Choriocarcinoma: Beta-hCG increases markedly.
(2) Sex cord/gonadal stromal tumors -- nongerminal tumors (5%):
Leydig-Sertoli cell tumor and gonadoblastoma cause increased testosterone. Granulosa cell tumor causes high
estrogen.
3. Staging: CT scan of the chest, abdomen, and pelvis should be performed for staging. The metastasis is usually
going through the lymphatic channels in the retroperitoneum up to the chest.
Treatment
1. If a testicular cancer is suspected based on physical examination or ultrasound, the testicle should be radically
resected by the inguinal route (without cutting the scrotum to avoid spreading) followed by radio- or chemo-therapy
(a single-agent carboplatin). For a stage I seminoma, a high cure rate can be achieved with radical orchiectomy.
After the orchiectomy, biopsy should be performed for confirmation. As active surveillance, beta-hCG and AFP
levels should be followed to compare with the preoperative values.
2. Patients with stage II seminoma are effectively treated with radiotherapy or cisplatin-based combination
chemotherapy. Radiotherapy is used for local disease and chemotherapy is for widespread disease. Most testicular
cancers (seminomas) are particularly radio- or chemo-sensitive (platinum-based), making the treatment for this
cancer promising, even with metastasis.
3. Further surgery for lymph node dissection may be needed in some cases, such as non-seminomas.
Penile Cancer
Clinical features and diagnosis
1. It is a rare malignancy of the penis and the peak incidence is in 70’s men, may be associated with HSV and
HPV18 infections. Circumcision has a protective effect according to statistics.
2. It presents as an exophytic mass on the penis.
Treatment
1. Surgical excision for Tis, Ta, or T1 penile cancer carries a good prognosis with a low risk of recurrence, and thus
a limited excision is recommended.
2. Men with stage T2 to T4 tumors are considered to have a higher risk of recurrence with an organ-preserving
therapy, and thus penile amputation with a negative surgical margin is recommended.
MISCELLANEOUS DISORDERS
Cryptorchism
It is the absence of one or both testes from the scrotum, a common birth defect in male. It can be found anywhere
from retroperitoneal abdomen to the inguinal canal (90%). Risk factors may include premature infants, lower
weight, alcohol consumption and smoking, obesity, diabetes during pregnancy, and family history.
Undescended testes are associated with increased risk of infertility, testicular germ cell tumors, testicular torsion and
infarction, inguinal hernias, and psychological problems when the boy is grown. In most cases the testicle will
descend into the scrotum spontaneously during the first year of life.
Treatment
Initial management is watchful waiting for its high spontaneous resolution. If this fails (> 6 months), surgical
orchiopexy is the effective treatment to avoid the above risks.
Testicular Torsion
It is the twisting of the spermatic cord leading to arterial occlusion and venous outflow obstruction. Ischemia can
lead to testicular infarction. It is usually seen in adolescent male patients.
Clinical features and diagnosis
Acute severe testicular pain, swollen and tender scrotum, and an elevated testicle (as twisting occurs, the testicle
moves to a higher position in scrotum).
Treatment
It is a surgical emergency. Treatment is immediate surgical detorsion and orchiopexy to scrotum bilaterally (to
protect the normal testicle from torsion in future). If surgery is delayed beyond 6 hours, infarction may occur, and
the testicle may have to be resected.
Urinary Incontinence
It’s defined as the inability to hold urine, producing involuntary urinary leakage. It’s more common in childbearing
and elder females. Urinary incontinence is classified and summarized in Table 7-7.
Essentials of diagnosis
1. Etiologic analysis of the symptoms and history. Use voiding diary and urodynamic testing.
2. Lab tests:
(1) Urine analysis and culture to exclude UTI.
(2) Cystogram to exam fistula and bladder abnormalities.
(3) Serum creatinine test to exclude renal dysfunction.
4. A 50 y/o man is diagnosed with chronic hepatitis B and cirrhosis, complicated by renal dysfunction. Lab tests reveal PO2 = 95, PCO2 =
33 (mmHg), serum K = 3.3 (mEq/L), [HCO3-] = 14 (mEq/L), AG = 14, pH = 7.2; urine pH = 5.0, urine protein is (+), and KCl is
increased. What’s the most likely diagnosis (Dx)?
A. Non-anion-gap (AG) metabolic acidosis
B. Type 1 RTA (renal tubular acidosis)
C. Type 2 RTA
D. Type 4 RTA
E. Respiratory and metabolic acidosis
5. A 60 y/o woman is diagnosed with CRF (chronic renal failure). Lab results: PO2 = 95, PCO2 = 33 (mmHg), serum Na = 135 mEq/L,
K=5.7 mEq/L, [HCO3-] =14, AG = 10, pH = 7.25; urine pH = 5.0, urine protein is (+) and KCl is decreased. What’s the best next
treatment (Tx)?
A. Thiazide
B. IV NaHCO3
C. Large volume of IV fluid
D. Fludrocortisone
E. Blood dialysis
6. A 10 y/o boy in poor health presents with 5 days of fever, headache, right ear pain followed by foot pain, rash, and cough with sputum
and threads of blood. P/E shows T=38oC, nodular, erythematous rash on both feet, and stable vital signs. CXR reveals bilateral
pulmonary lymph node infiltrates. Urine analysis (U/A) shows RBC (+) and protein (+). Blood tests show lymphocyte elevation and
cANCA (+). TB skin test is (+/-). The most likely Dx is
A. Acute pulmonary TB
B. Polyarteritis nodosa
C. Allergic interstitial nephritis
D. Goodpasture syndrome
E. Allergic pneumonia
7-12: Match the following clinical scenarios with the most likely diagnosis.
1. Acute or chronic
(1) Acute: Usually with a brief history of joint pain over 1-2 days, e.g., septic arthritis (see Chapter 1) and crystal-
induced arthritis (gout and pseudogout).
(2) Chronic: History of joint pain over months and years [osteoarthritis (OA) and rheumatoid arthritis (RA)].
2. Joint distribution—Four basic patterns:
(1) Polyarticular symmetric: RA and SLE; may also be in Parv-B19 and hepatitis B infection.
(2) Monoarticular arthritis: OA, gout, and septic arthritis.
(3) Oligoarticular asymmetric: commonly with ankylosing spondylitis.
(4) Migratory arthropathy: seen in rheumatic fever, gonococcal arthritis, and Lyme disease.
3. Evidence of inflammation
(1) With inflammation: as in infectious arthritis, RA, SLE, gout & pseudogout, reactive arthritis, ankylosing
spondylitis, etc; red, warm, erythematous joints; high ESR, the synovial fluid WBC count > 2000/uL (if purulent,
WBC > 100,000/uL).
(2) Without inflammation: as in OA, osteoporosis, fibromyalgia, trauma, osteocondromatosis, osteocondritis
dissecans, neuropathic arthropathy, hypertrophic osteoarthropathy, etc; normal ESR, the synovial fluid WBC count
< 2000/uL.
4. Evidence of systemic manifestations
SLE: Involving the lungs (pleural effusions), kidneys (proteinuria and renal failure), CNS (vasculitis, strokes, and
personality change), skin (malar rash with photosensitivity), and blood (hemolytic anemia and thrombocytopenia).
Sjogren syndrome: With keratoconjunctivitis sicca (dry eyes and dry mouth) and parotid enlargement.
Systemic sclerosis: With skin sclerosis and Raynaud phenomenon.
5. Specific antibodies (Ab)
Anti-nuclear antibody: Highly sensitive for SLE.
Anti-ds-DNA (native DNA): Highly specific for SLE and lupus nephritis.
Anti-SM: Also specific for SLE.
Anti-histone: Highly specific for drug-induced lupus (95% of cases).
Anti-Ro/SSA: Sensitive in neonatal lupus, Sjogren syndrome, and other connective diseases, but not specific.
Anti-LA/SSB: Highly specific for Sjogren syndrome.
Anticentromere: Highly specific for CREST syndrome.
Anti-RNP: 100% positive in mixed connective tissue disease (MCTD).
Antineutrophil cytoplasmic antibody (ANCA): Against certain proteins in the cytoplasm of neutrophils.
Cytoplasmic (c) ANCA (anti-proteinase-3 or anti-PR3 Ab) is seen in > 90% of patients with granulomatosis with
polyangiitis (Wegener granulomatosis).
Perinuclear (p) ANCA (anti-myeloperoxidase antibody) is seen in > 60% of patients with microscopic
polyangiitis or Churg-Strauss syndrome.
DEGENERATIVE AND CRYSTAL-INDUCED ARTHRITIS
Osteoarthritis (OA)
It’s the most common chronic, degenerative joint disease characterized by noninflammatory arthropathy of the
synovial joints, degeneration of the cartilage (due to wear and tear), and secondary bone hypertrophy. Major risk
factors include age > 65, female gender, obesity, family history, and joint trauma (repeated occupational
microtrauma and macrotrauma). Most cases are idiopathic. Some are secondary to other diseases (diabetes, gout,
acromegaly, hemochromatosis, etc).
Essentials of diagnosis
1. Joint pain (monoarticular, insidious, deep, dull ache) and crepitation mainly involving weight-bearing joints (#1 is
the knee; then the hip, and lumbar spine), and finger joints (PIPs and DIPs), worsened with exercise and relieved
by rest; morning stiffness < 30 min; limited range of motion (late stage).
2. Joint lesions are asymmetric and monoarticular, and progressive slowly and irreversibly. Usually there are no
systemic manifestations, erythema, warmth, or swelling. Other findings include sclerosis of subchondral bony end-
plates adjacent to diseased cartilage, subchondral cysts, etc.
3. Lab tests: (1) X-ray: 1) Joint space narrowing; 2) Osteophytes (Image 59; in PIPs are Bouchard’s nodes; in
DIPs are Heberden’s nodes). (2) Synovial fluid test is mostly normal (straw color, WBC < 2000/uL). All blood
tests are normal. Abnormal results indicate possible complications. (3) MRI of the spine may be indicated if
neurologic signs are found.
Treatment
—Aimed at reducing pain and maintaining mobility.
1. Supportive therapies: They all help reduce weight and correct poor posture to decrease joint loading. Physical
therapy and exercise programs are effective (swimming is the best). Advise patient to lose weight, rest, and avoid
overuse of the joint.
2. Palliative medicines: A topical NSAID (duloxetine or capsaicin gel) should be initially used in most cases.
NSAIDs can relieve symptoms but cannot stop the disease progression. If it’s an inflammatory OA or with severe
pain, a strong NSAID (naproxen) can be used. If NSAIDs are ineffective or intolerant, a cyclooxygenase-2 (COX-2)
inhibitor (celecoxib or etoricoxib) is suggested. If the above treatment is still ineffective, intra-articular injection of
corticosteroids is helpful (but should not be used frequently). Glucosamine and chondroitin may be variably helpful
with OA.
3. Surgical joint replacement and arthroplasty: Reserved for advanced cases with poor life quality. It should be
delayed as long as possible because a revision may be needed 10-15 years after the surgery.
Crystal-induced Arthropathies
It’s a group of disease caused by microcrystal deposition in joints, by mono-Na urate, Ca-pyrophosphate (CPPD),
Ca-oxalate, and Ca-hydroxyapatite. Despite differences in crystal morphology, they have similar clinical
presentations and can only be distinguished by synovial fluid analysis (SFA).
Gouty Arthritis
Gout is a kind of crystal-induced arthritis that occurs when uric acid builds up in blood and causes joint
inflammation. Acute gout is a painful flare that typically affects one joint (#1 is the toe). Chronic gout is repeated
episodes of painful inflammation, which may involve more than one joint.
Essentials of diagnosis
1. Typically a middle-aged man presents with acute monoarthritis. The most common site is the first MTP joint
and the first toe—podagra). The first acute episode usually occurs as sudden, severe, excruciating pain of the big
toe at night, with warmness, redness and tenderness, often after alcohol drinking, and wakes the patient from sleep.
Fever is common and the gouty attack may resemble infectious arthritis or cellulitis, which requires arthrocentesis
for differentiation. The joint pain can disappear spontaneously in a few days.
2. Precipitating factors include excessive alcohol ingestion, trauma, surgery, infection, steroid withdrawal, drugs
(diuretics, anti-TB medicines), and serious disease.
3. Chronic gout: As gout becomes chronic, multiple joints may be involved, with possible deposition of urate
crystals with foreign body reaction in soft tissues (tophi) and kidneys (uric acid nephrolithiasis). Long
asymptomatic periods between attacks are commonly seen.
4. Lab tests: SFA is the best diagnostic test, typically negatively birefringent crystals and monosodium urate
are identified (+). The serum uric acid during the acute attack may be normal or low, whereas many people with
elevated serum uric acid levels never develop gout. Thus, the serum uric acid level is not an accurate diagnostic
test for acute gouty arthritis.
Treatment
1. Acute gout: (1) No.1 medicine is indomethacin or naproxen, with dramatic therapeutic response. (2)
Colchicine or glucocorticoids is the second best in acute gout flares and effective in preventing attacks. (3)
Intraarticular steroids is a good option for elderly patient who cannot tolerate NSAIDs or colchicine. The goal of
therapy is to decrease inflammation and fluctuations in urate levels, and prevent erosions and joint destruction.
2. Chronic gout--hypouricemic therapy: To decrease urate levels for long-term stability. It is usually required for
life in patients with recurrent gouty attacks not corrected by other treatment. Probenecid and sulfinpyrazone
increase renal excretion of the urate and are used in the low-producers (> 80% of adults). Allopurinol is used in
overproducers or patients with renal stones or failure. Monitoring the urate level is helpful in following the effects of
hypouricemic treatment.
3. Diet: Decrease alcohol consumption (particularly beer), high-purine foods (such as meat and seafood), and
weight. Stop thiazides, aspirin, and niacin.
Adverse effects of chronic treatment
Uricosuric agents: Hypersensitivity (rash, hemolysis, allergic interstitial nephritis).
Colchicine: May suppress WBC production.
Allopurinol: May cause epidermal necrolysis or Steven-Johnson syndrome.
Calcium Pyrophosphate Deposit Disease (“Pseudogout”)
It’s CPP crystal deposition (CPPD) in joints with preexisting damage in elderly patients, usually including
pseudogout, chondrocalcinosis, and pyrophosphate arthropathy. It is almost always accompanied by
chondrocalcinosis, which is the presence of Ca-containing salts in the affected articular cartilages.
Associated diseases or risk factors include “4 Hs”: Hyper-PTH, Hyper-Fe (hemochromatosis), Hypo-phosphate
(PO4), and Hypo-Mg.
Essentials of diagnosis
1. Similar, acute, recurrent joint pain with warmness and welling as with gout. The knee (and wrist) is the most
common site affected. The DIP and PIP are not affected. It may also be asymptomatic and chronic.
2. Diagnosis is confirmed by finding typical rectangular, rhomboid, and positively birefringent crystals on SFA.
Uric acid levels are normal. X-ray may reveal linear radiodense deposits (calcification) in joint menisci or articular
cartilage (chondrocalcinosis).
Treatment
Basically it’s the same as for gout— naproxen is the best initial treatment. Intraarticular steroid is a good option
for severe cases and elderly patients who cannot tolerate NSAIDs or colchicine. Low-dose colchicine can prevent
subsequent attacks.
SERONEGATIVE ARTHRITIS
The seronegative arthritis family is differentiated from rheumatoid arthritis in that its RF is negative, more prevalent
in males, sharing similar clinical features of arthritis, and associated with HLA B27 allele and possibly similar
pathogenesis.
The common four seronegative arthropathies are summarized in Table 8-1 below.
I. Disk herniation
Nucleus pulposus extrudes posteriorly mostly through the annulus fibrosis, resulting in neurologic root or cord
compression, back pain, and sensory or motor deficiencies. 95% of cases occur in the lumbar region (L4-L5 or
L5-S1 levels). The pain radiates to the posterior thigh, exacerbated by sneezing, coughing, or straining; relieved by
recumbency (bed rest); characterized by sciatica (pain radiating down the leg in an L4-S3 distribution), with
straight leg raise (SLR) test positive (pain going through the buttock and below the knee when the leg is raised
above 60 degrees). A negative SLR test excludes herniation with 95% sensitivity. MRI is the most accurate means
of diagnosis.
Levels of nerve root deficits:
T4: Loss of sensation below the nipples.
T10: Loss of sensation below the umbilicus.
L4 (L3-L4 herniation): Foot dorsiflexion, medial lower leg sensation, and patellar reflex (knee jerk).
L5 (L4-L5 herniation): Big toe dorsiflexion and foot dorsum sensation.
S1 (L3-L4 herniation): Plantar flexion or eversion of foot, Achilles reflex (ankle jerk), and outer foot sensation.
Large midline herniation may result in cauda equina syndrome--with motor/sensory deficits in the lower limbs and
anal/saddle area, and urine/bowel incontinence, which requires urgent decompression by laminectomy plus IV
steroids. If the pain is weaker while motion deficiency gets worse, it indicates worsened neurologic compression.
Treatment: (1) Bed rest, NSAIDs, local heat, physical therapy, and early motion. Most patients recover in 2-3
weeks. (2) With persistent or disabling symptoms, surgical disk removal is usually needed.
VII. Neoplasms
The most common spinal tumor is metastatic carcinoma (usually from the lungs, breast, prostate, GI, and GU).
Multiple myeloma is rare. Clinical features are gradually progressive back pain (waist-level or middle back) that
worsens at night and is unrelieved by rest in an elderly patient, with hyper-Ca, or cancer risks, etc. MRI or CT with
contrast is the best diagnostic tool.
Bursitis
It’s an inflammation of the bursae secondary to trauma, repetitive use, infection, or systemic diseases (gout, RA,
osteoarthritis). Common sites are subacromial (subdeltoid, the No.1 site), olecranon, trochanteric, and prepatellar
bursa. Infection can cause septic bursitis (more superficial bursa).
Essentials of diagnosis
1. History of trauma, repetitive use, or infection followed by localized tenderness, erythema, edema, and decreased
ROM (range of motion). Diagnosis is clinical and aspiration analysis is only needed if septic bursitis is suspected.
2. Subacromial bursitis: Common in athletes with repeated, improper use of the shoulder. Pain on overhead actions
(arm abduction, flexion, or rotation) and limited shoulder movement. Neer sign is (+) (shoulder pain on passive
rotation internally).
3. Olecranon bursitis: Swelling and pain at point of elbow; spongy “bag of fluid” over the extensor surface of
elbow.
4. Iliopsoas bursitis: Overlies the capsule; an enlarging inguinal mass (to be differentiated from a hernia, hydrocele,
and abscess).
5. Trochanteric bursitis: A common cause of lateral hip pain; with obvious pain on palpation of the greater
trochanter.
6. Ischial bursitis: Inflamed bursa overlying the ischial tuberosity; with pain in the buttocks, especially when sitting
and flexing the hip.
7. Retrocalcaneal bursitis: Between the calcaneus and the Achilles.
Treatment
1. Combined therapies: Immobilization (except for subacromial bursitis with risk of “frozen” shoulder) and rest;
physical therapy –ice during acute phase; moist heat during chronic phase; exercise modification; NSAIDs as
indicated.
2. Intrabursal steroid injection is saved for severe cases (pain), except for septic bursitis, which requires antibiotics
for 7-10 days.
Differential diagnosis
Frozen shoulder:
(1) Glenohumoral joint stiffness causing limited motion of shoulder in all directions, passively and actively; no local
warm, red, swollen, or tender signs.
(2) Diagnosis: Arthroscopy is confirmative, showing decrease in joint space and loss of normal auxiliary pouch.
(3) Treatment: NSAIDs, triamcinolone, focal injection of steroid or lidocaine, plus physical therapy.
Rotator Cuff Injury
A. Osteoarthritis (OA)
B. Rheumatoid arthritis
C. Rheumatic arthritis
D. SLE
E. Drug-induced lupus
F. Septic arthritis
G. Sjogren syndrome
H. Gout
I. Pseudogout
J. Ankylosing spondylitis
K. Systemic sclerosis
L. CREST syndrome
M. Mixed connective tissue disease (MCTD)
N. Polyarteritis nodosa
O. Giant cell arteritis
P. Polymyalgia
Q. Juvenile rheumatoid arthritis (JRA)
R. Reactive arthritis
S. Dermatomyositis
T. Antiphospholipid antibody syndrome
1. A 50 y/o female complains of fever, headache, fatigue, and left knee pain for the past 3 days. Now she feels that the knee pain has
lessened but there is new pain in the left toe. P/E finds T = 38.5oC and nodular rashes on the trunk; her knee and toe are red, swollen, and
tender. CBC and serum urate are normal (Nl). ESR is elevated.
2. A 60 y/o farmer presents with intermittent right hand pain and fatigue for the past 3 months. He has brief morning stiffness in the
hands, and his pain is worsened with activity and relieved by rest. Patient has a 5-year history of occasional smoking and alcohol use, but
no chronic diseases. P/E finds swelling and tenderness of the PIP and DIP joints and the knees. Blood CBC and ESR are normal (Nl). X-
ray shows joint space narrowing.
3. A 15 y/o girl presents with intermittent fever, bilateral hand pain, and fatigue for the past 2 months. She has > 1 hour of morning
stiffness and pain in the hands. The pain is only partially relieved by rest and NSAIDs. P/E finds symmetric swelling and tenderness of
MCPs, PIPs, and the wrists. Lab tests reveal that WBC and ESR are mildly elevated, and ANA is (+) but RF is (-). X-ray shows soft
tissue swelling.
4. A 45 y/o female presents with intermittent fever, fatigue, muscle weakness, chest pain and bilateral hand pain for the past 2 months.
There is > 1 hour of morning stiffness and pain in the hands, and the patient has difficulty combing her hair. P/E finds low fever, multiple
discoid rashes, symmetric swelling of the hands, and multiple tender points on both arms. Lab tests reveal that blood RBC, WBC, and
platelets are mildly decreased; ANA, Anti-RNP, Anti-ds-DNA, RF, and VDRL are all (+). Urinary protein is (+). X-ray is normal.
5. A 25 y/o female presents with general fatigue and muscle weakness for the past 2 months. She has a history of pulmonary embolism
(PE) during pregnancy 6 months ago, and has no children due to three spontaneous abortions. She denies any STD or other diseases. P/E
results are mostly normal. Blood tests reveal elevated PTT and RPR (+).
6. A 30 y/o man presents with a 2-month history of fatigue, chest discomfort, decreased vision, low back pain, and morning stiffness that
worsen at rest and improve with activity. P/E finds HR = 50/min, Schober test (+), and evidence of anterior uveitis. ECG reveals 3rd-
degree heart block. X-ray shows evidence of sacroiliitis.
7. A 30 y/o female presents with 1 week of polyuria, dysuria, mucous in her urine, red eyes, and left knee pain. She is single and sexually
active. P/E finds T = 38.5oC, bilateral congested conjunctiva, and swollen left knee with tenderness. Knee X-ray shows a soft tissue
lesion. Analysis and culture of the joint fluid and urine reveal proteinuria without pathogens.
8. A 45 y/o female presents with a 2-month history of progressive bilateral muscle pain and weakness in her shoulders and hips, with
difficulty lifting objects and arising from a seated position for the past week. P/E shows a purple rash over the face and red scaly patches
over the PIP and MIP joints with tenderness. Serum CPK and creatinine are increased, and Anti-Jo-1 antibody is (+).
9. A 65 y/o man presents with a 3-month history of intermittent bilateral knee pain, which suddenly worsened for the past 3 days and has
now disappeared. Symptoms were worsened with walking and alleviated with rest and NSAIDs. He has a 4-5-year history of smoking
and alcohol use. P/E finds warm knees with mild tenderness. Serum chemistry reveals low Mg and phosphate, and normal uric acid. X-
ray shows linear radiodense deposits in joint menisci. Synovial fluid analysis (SFA) has confirmed the Dx. What’s the best next
treatment?
A. Low-dose colchicine
B. Indomethacin
C. High-dose colchicine
D. Steroids
E. Ibuprofen
F. Allopurinol
10. A 60 y/o female presents with recurrent fatigue, chest discomfort, discoid rash on the face and arms, and morning stiffness and pain
in both hands for the past 4 months. P/E results: T = 38oC, discoid rash on the face and both arms; warm, symmetric swelling of the
joints of wrists, MCPs, and PIPs with tenderness but without deformation. Lab tests: mild pancytopenia, increased BUN:creatinine ratio,
and proteinuria. CXR reveals a small amount of pleural liquid. Specific immunologic tests confirm the Dx. What’s most effective
treatment for this case?
A. Low-dose steroids
B. High-dose steroids
C. Azathioprine
D. Rituximab (anti-CD20)
E. NSAIDs
F. Chloroquine
11-16: Match the most likely diagnosis with the following clinical scenarios:
11. A 40 y/o female presents with fatigue, insomnia, depressed mood, muscle weakness, stiffness, and multiple tender sites on the
extremities for the past month. She has no history of chronic diseases and been unemployed for the past 3 months. P/E results: normal
vital signs; in depressed and irritable mood; 5-6 tender sites on palpation on the arms and legs separately. CBC and ESR are normal.
What’s the most likely diagnosis from the above choices?
12. For Question 11, all the following therapies may be helpful EXCEPT:
A. psychological support
B. fluoxetine
C. tryptophan
D. anti-mycoplasma
E. NSAIDs
F. stretching and heating
13. A 40 y/o female complains of low fever, fatigue, insomnia, depressed mood, and muscle weakness and pain for the past month. She
has no history of chronic diseases and been unemployed for the past 3 months. P/E results: normal vital signs; in depressed and irritable
mood without suicidal ideas; various mild tenderness on palpation on the extremities. CBC and ESR are normal. There are no other
abnormal findings. What’s the most likely diagnosis from the above Q11-16 choices?
14. A 50 y/o female complains of temporal headache, fever, neck stiffness, fatigue, insomnia, muscle pain and weakness on the left
shoulder and right hip areas for the past month. She has no history of chronic diseases and been unemployed for the past 3 months. P/E
results: normal vital signs; T = 38oC. There is tenderness on palpation of the left neck, shoulder, and right pelvic girdle areas. CBC is
normal and ESR is 110. There are no other abnormal findings. What’s the most likely diagnosis from the above Q11-16 choices?
15. What’s the best treatment for the patient in Question 14?
A. Low-dose prednisone
B. High-dose prednisone
C. NSAIDs
D. Oxygen
E. Physical therapy
16. A 17 y/o boy presents with progressive fatigue, clumsiness, difficulty standing or walking, “pounding heart”, decreased vision, and
poor school scores for the past 3 months. His grandmother and father passed away due to similar conditions. P/E results: Stable vital
signs, tachycardia, face-limb wasting and dystrophy, myotonia, and negative neurological signs. CBC is normal and CK is elevated. ECG
reveals abnormalities. What’s the most likely diagnosis from the above Q11-16 choices?
17. During routine P/E a 10 y/o girl is found to have lateral curvature and rotation of the spine during a forward bending test. Spinal X-
ray (2-positional views) confirms 30o lateral curvature. The girl does not experience difficulty with daily activities. What’s the best next
step?
A. Observation
B. Spinal bracing
C. Surgical correction
D. Programmed exercise
E. Further examinations
18-21: Match the following clinical scenarios with the most likely Dx.
A. Malignancy
B. Spinal stenosis
C. Back sprain or strain
D. Ankylosing spondylitis
E. Spondylosis
F. Osteomyelitis
G. N-root L4 compression
H. N-root L5 compression
I. N-root S1 compression
18. A 60 y/o man is lifting a heavy object when he experiences sudden back pain. The pain is persistent, radiating to the posterior thigh,
and is worsened by sneezing or coughing. History of chronic diseases is (-). P/E finds deficits in plantar flexion and sensation and
decreased Achilles reflex. MRI confirms disk herniation.
19. A 60 y/o man is lifting a heavy object when he feels a sudden pain in the back. The pain radiates to the posterior thigh and
exacerbated by sneezing or coughing. History of chronic diseases is (-). P/E finds defects in the big toe dorsiflexion and foot dorsum
sensation. MRI confirms Dx.
20. A 60 y/o man falls off the stairs backwards and feels a sudden low back pain. The pain is dull, non-radiating, relieved by rest, and
worsened by activities. He has history of diabetes for 6 years. P/E only finds tenderness over the lumbar area without neurologic deficits.
X-ray shows images of lumbar sclerosis and lucency.
21. A 60 y/o man complains of insidious fever, cough, fatigue, and low back pain for the past 3 months, worsened after a fall off the
stairs 3 days ago. P/E finds T = 38.5oC, swelling, and tenderness over the lumbar area. X-rays reveals pulmonary infiltration and
pathologic lumbar fracture. Blood tests reveal anemia, leukocytosis, increased Ca, creatinine, IG, and urine acid.
22. A 50 y/o man presents with severe low back pain and loss of urine following a hip fall on a slope. His vital signs are stable. P/E finds
motor and sensory deficits in the lower limbs and anal/saddle areas, but the back pain is alleviated now. The most appropriate next step is
A. urgent laminectomy
B. CT without contrast
C. NSAIDs
D. IV steroids
E. observation
23. A 47 y/o man presents with slowly progressive multiple joint pain, brief morning stiffness and mild deformation on both hands and
feet for the past 3 months. His history is unremarkable except for occasional upper respiratory infections. P/E results: Mild joint
deformation on both hands and feet; mild tibial bowing. Lab tests: Increased alkaline phosphatase and urine hydroxyproline; serum Ca2+
and phosphate are normal. X-ray shows uneven density changes on both tibia and feet. The most likely Dx is
A. osteoporosis
B. osteomalacia
C. Vit-D deficiency
D. Paget disease (Osteitis deformans)
E. osteitis fibrosa cystica
24. An 18 y/o boy presents with progressive pain around the right knee for the past month. He has no other symptoms except occasional
headache. P/E shows a swelling with tenderness around the right knee. Lab tests reveal increased serum Ca, phosphate, and AKP. X-ray
shows a focal osteolytic lesion beneath the knee with periosteal reaction. What’s the most likely Dx?
A. Paget’s disease of bone (Osteitis deformans)
B. Osteitis fibrosa cystica (Osteitis fibrosa)
C. Hyperparathyroidism
D. Giant cell tumour of bone (Osteoclastoma)
E. Osteosarcoma (Osteogenic sarcoma)
25. If a patient with rheumatoid arthritis presents with a swollen, red and painful calf, what’s the best considerations of diagnosis and
treatment?
Diagnostic guidelines
History and P/E are most important. EEG usually confirms diagnosis, but EEG negativity does not exclude it. A
witness is good evidence of history in most cases. For complex partial seizure, brain MRI should be done. For
prolonged seizure, EEG monitoring is needed.
I. Generalized Seizures
1. Tonic-clonic (Grand Mal)
It’s mostly idiopathic, but can be developed from partial seizures. It begins with loss of consciousness and tonic
extension of the back and limbs, followed by 1-2 min of repetitive, symmetric clonic movements, usually with
postictal confusion. Secondary cyanosis, tongue biting, headache, incontinence, and muscle pain may occur.
Diagnosis
EEG usually shows 10-Hz discharges during the tonic phase and slow waves during the clonic phase. Serum
prolactin and cortisol (in less extent) levels are increased.
Differential diagnosis
(1) Pseudoseizure and focal seizures: There is no serum prolactin increase.
(2) Syncope: Gradual progressive faintness and loss of consciousness, slow limb jerking, lasting > 15 sec, fast
recovery to lucidity.
Treatment
Levetiracetam or fosphenytoin/phenytoin is the most effective medicine for tonic-clonic seizures in adults and
lorazepam or phenobarbital in children. Valproate and lamotrigine (superior to topiramate) are the wide spectrum
anti-convulsants commonly used in generalized seizures in both adults and children.
2. Absence (Petit Mal)
It mostly begins in childhood and subsides before adulthood, often with family history. Typical presentations are a
few seconds of unnoticeable impaired consciousness (staring or daydreaming), followed by a brief amnesia, eye
fluttering, or lip smacking. The episodes can occur abruptly many times a day and terminate without confusion.
Diagnosis: EEG shows 3-Hz spike and slow wave complexes.
Treatment: No.1 medicine is ethosuximide.
3. Myoclonic +/- atonic (Doose syndrome)
Brief bursts of “twitching” involving the face and arms and lasting 1-2 sec; more often in the morning and more
common in adolescence.
Treatment: The effective medicine is zonisamide or phenytoin. Clobazam can be the second choice.
4. Infantile spasm (“West syndrome”)
It’s a form of generalized epilepsy that usually begins < 6 months of life. It can be idiopathic or secondary to certain
diseases such as perinatal infections, ischemic injury, PKU, etc. Prevalence is male > female and often with family
history. Infants usually present with clusters of symmetric, tonic jerks of the head, limbs, and trunk. Most patients
have arrest of psychomotor development and intellectual disability after the seizure onset.
Diagnosis: EEG typically shows hypsarrhythmia.
Treatment: Hormonal therapy with ACTH (No. 1) or prednisone, along with clonazepam or valproic is effective
against the spasms, but not significantly on the long-term prognosis.
Most of the headaches are functional and history taking and physical examination are very important to initially
identify the nature. If an ICH is suspected, CT scan is highly sensitive. If a non-bleeding lesion (brain tumor,
aneurysm, infection/inflammation) is suspected, MRI scan is the most sensitive means of diagnosis.
Migraine Headache
It’s considered an inherited disorder, probably an autosomal dominant trait with incomplete penetrance. Etiology
includes genetics (>70%), hormone disturbances (female > male by 3 times), stress, sleep disturbances, drugs,
environmental triggers (weather), etc. Serotonin depletion plays a major role in the pathogenesis. NSAIDs are
effective in about 50% of cases.
Clinical features and diagnosis
1. Migraine headache without aura: 80% of cases; “common migraine” or “sick headache.” Headache may be
bilateral, usually with nausea/vomiting and photophobia, and lasting for 2-24 hours. Patients usually immobilize
themselves and avoid sound and light.
2. Migraine headache with aura: “Classic migraine”, usually unilateral and with visual aura preceding the
headache by 15-20 min, such as scintillating scotoma (flashing lights) or visual field cuts. The subsequent headache
is variable in intensity and duration.
Treatment
1. Acute attacks: NSAIDs (naproxen, aspirin, ibuprofen, or diclofenac) should be first tried in mild cases. Triptans
(sumatriptan, a highly-specific 5-HT1 receptor agonist) and ergots (dihydroxyergotamine-DHE) are highly
effective in aborting migraine attacks. DHE (5-HT1 receptor agonist) is also effective in terminating the pain of
migraines. Metoclopramide and prochloperazine (plus diphenhydramine) are effective for acute migraines with
vomiting. Anti-emetics chlorpromazine may be needed sometimes. If none of the above medications work, it’s
probably not a migraine headache.
S/E of triptans and ergots: Vascular contraction—be cautious in patient with suspected CAD, stroke, uncontrolled
HTN, use of MAOI, SSRI, or lithium.
2. Prophylaxis: (1) Avoid known triggers. (2) If headaches occur more than 2-3 times per month and affect work or
quality of life, daily use of beta-R blockers (No.1), TCAs (amitriptyline), Ca-blockers, valproic acid, or
cyproheptadine. NSAIDs are effective for menstrual migraines.
Cluster Headache
It’s rare and considered a variant of migraine headache by some, characterized by unilateral, centered over one eye,
deep, burning/stabbing, intense pain, lasting 30-90 min. Most attacks are periodic (“clustering”) and nocturnal in
middle-aged men, accompanied by conjunctival and nasal congestion and precipitated by alcohol or stress. It usually
occurs episodically for 2-3 months (90% cases), with months-years of remissions.
Treatment
1. Sumatriptan is the drug of choice, highly effective combined with 100% O2. S/E: Sumatriptan may cause
retroperitoneal fibrosis after a few months of use.
2. Another therapy is dihydroxyergotamine, octreotide, or lidocaine (last).
3. Prophylaxis: It is very effective and is also important because the abortive medicine may be too late for the short-
lived cluster headache. Verapamil taken daily is the drug of choice. Methysergide, ergotamine, lithium, and
prednisone are alternative agents.
Tension Headache
It’s characterized by diffuse, aching, “vicelike”, and tight band-like distribution, most intense around the neck or
back of the head, worsened throughout the day. It can be accompanied by tender posterior neck muscles, daily or
episodic, and is often precipitated by anxiety, stress, or depression. Mild tension headache and migraine can be
mutually confused.
Treatment
1. First try to find and stop the cause or trigger. Reduction of possible stress, depression or anxiety is important.
2. NSAIDs combined with caffeine are effective, standard therapies for mild to moderate headache. If severe,
chlorpromazine or metoclopramide (plus diphenhydramine) can be used. Avoid medication overuse headache.
3. TCAs or muscle relaxants may be preventive.
NEUROCOGNITIVE DISORDERS
These include a syndrome of stupor or coma, delirium, dementia, and amnesia caused by general medical conditions
or/and drug intoxication. They’re more common in patients with debilitation or very young or old age. Broad
cognitive mental disorders may include anxiety disorders, mood disorders, and psychotic disorders.
Clinical features
1. Amnesia (especially recent memory), aphasia, apraxia (unable to perform complex motor actions), agnosia
(unable to recognize people/objects), or/and disturbances in general executive function (thinking, planning, and
performing).
2. P/E may reveal evidence of impairment in CNS function, such as dyskinesia, incoordination, tremor, focal motor
or sensory deficits, or substance withdrawal.
3. EEG may show generalized slowing of activity, fast-wave activity, or focal abnormalities. There may be
abnormal neuroimaging findings.
Differential diagnosis
Separate dementia, delirium, substance intoxication or withdrawal, and psychotic disorders.
Therapeutic guidelines
1. Correction of underlying disorder is essential.
2. Frequent orientation, reassurance, and emotional support are helpful.
Amnestic Disorder
Also known as amnesia, it is characterized by marked memory impairment in the absence of orientation
disturbances and other cognitive diseases.
Etiology
Alcohol may be the most common cause, often associated with bilateral damage to diencephalic and mediotemporal
structures. Other causes include Vit-B1 deficiency, cerebrovascular diseases, hypoxia, local infection, surgery, head
trauma, seizures, etc.
Essentials of diagnosis
1. Recent memory loss: It can be abrupt or gradual loss, confabulation as with “Korsakoff psychosis.” Orientation
is mostly normal.
2. History and P/E evidence of chronic alcohol abuse is usually present.
3. EEG may show abnormal, generalized slowing of activity or fast-wave activity.
Differential diagnosis
Dissociative amnesia:
It is a potentially reversible memory impairment that primarily affects autobiographical memory (disorientation to
self). Patients mostly cannot recall important personal information, usually of a traumatic or stressful nature, but can
still learn new information and recall selective things in the past.
Treatment
Correction of the underlying cause is essential. Empirically, IV Vit-B1 and glucose are the effective treatment for
hypoglycemia- or alcohol-induced amnestic disorder.
DEMENTIA
Dementia is not a specific disease, but a general term or condition to describe symptoms of impairment in memory,
communication, and thinking in the absence of delirium. It’s mostly secondary to CNS damage or a
neurodegenerative disease (Alzheimer, Parkinson, Huntington, Pick disease, etc.). It is difficult to be diagnosed in
early stage.
Differential diagnosis
1. Depression—“Pseudodementia”: Memory improved with depression improvement; very common in the elderly.
2. Medications: Sensory deprivation (cataracts, hearing loss).
3. Multi-infarct dementia (cortical strokes): Binswanger dementia (subcortical vascular disease along with
hypertension).
4. Metabolic causes: B12 deficiency, hypothyroidism.
5. Diffuse Lewy Body disease: Dementia plus Parkinson symptoms.
6. CNS Infections: Neurosyphilis, HIV, Creutzfeldt-Jacob syndrome.
7. Structural abnormalities: Abnormal subdurals, normal pressure hydrocephalus (dementia + incontinence + gait
apraxia).
Alzheimer Disease (AD)
Etiology and pathogenesis
It’s the most common type of dementia. Causes are unknown, possibly genetic predisposition along with
environmental factors. Patients with chromosomes 21 and 14 deficiencies and with homozygous APOE4
(apolipoprotein E4) have a higher prevalence. Cholinergic neurons turn to be preferentially damaged by beta-
amyloid (A-beta), causing plaques of amyloid formed in the gray matter (neurofibrillary tangles). Trisomy 21
(Down syndrome) precipitates A-beta after age 30-40 with similar pathology. Pay attention that AD is not “senile
dementia”.
Essentials of diagnosis
1. Recent memory loss in the 50’s is an early symptom. Long-term memory is spared until late stage, with slowly
progressive cognitive deficits and neuropsychiatric symptoms, including disorientation, wandering, agitation,
aggression, delusions, hallucinations, depression, apathy, disinhibition, paranoia, sleep disturbances, and impaired
mobility.
2. Many elderly demented patients are socially sophisticated and able to “mask” their dementias until late stage, to
be found out when they get into a hospital.
3. Neuropsychological testing can help distinguish dementia from depression. MRI or CT may reveal brain atrophy
and rule out other causes. Diagnosis is by exclusion and confirmed only by autopsy.
4. Hint: If a patient complains of “Bad memory and probably with AD,” he may not have it; but if the family
members agree the patient has a poor memory and the patient denies it, he may really have it.
Treatment
1. For patients with mild to moderate dementia, the presently effective medicine to slow the disease progression
and improve symptoms is acetylcholinesterase inhibitors—donepezil, rivastigmine, or galantamine by increasing
the Ach concentrations in CNS. Vit-E may also help slow the progress of dementia. Memantine (a N-methyl-D-
aspartate receptor antagonist) may help with severe dementia.
2. Symptomatic and supportive therapies can be given to patients with significant neuropsychiatric dysfunctions.
Vascular Dementia
It’s the second common form of dementia, usually caused by a cerebrovascular disease or stroke, and with similar
risk factors as for stroke (hypertension, hyperlipidemia, diabetes, smoking, old age, etc.).
Essentials of diagnosis
1. Abrupt stroke-associated focal neurologic deficiencies followed by dementia.
2. CT or MRI reveals evidence of old infarctions or extensive white matter lesions secondary to chronic ischemia.
Treatment
Treatment is the same as for stroke (control of blood pressure, lipid levels, etc.), plus donepezil and memantine for
dementia (including preventive effect for AD).
Frontotemporal Dementia (FTD, Pick Disease)
It’s a rare, progressive form of dementia characterized by prominent changes in social behavior, personality, or
aphasia, accompanied by degeneration and atrophy of the frontal and/or temporal lobes, and pathologic mark of
“Pick bodies” (intraneuronal round inclusions). FTD includes behavioral variant type (most common) and three
forms of primary progressive aphasia.
Essentials of diagnosis
1. Early presentations are significant personality changes, dementia, followed by speech and social disturbances,
inattentiveness, and extrapyramidal signs.
2. Diagnosis is usually made by the clinical features and frontotemporal atrophy shown by MRI.
Treatment
Symptomatic and supportive treatment only: paroxetine (SSRI), trazodone, or quetiapine for neurobehavioral
symptoms; exercise program, speech therapy, or behavioral modification techniques.
Creutzfeldt-Jakob Disease (CJD)
CJD is a prion disease, a rare form of dementia, and one of the transmissible spongiform encephalopathies. It’s
characterized by abnormal accumulation of the prion protein (protease-resistant), spongy degeneration, neuronal
loss, and astrocytic proliferation in the brain. Most patients die within a year of symptomatic onset.
Essentials of diagnosis
1. Subacute (weeks-months of course), progressive memory loss, pyramidal signs, extrapyramidal signs
(hypokinesia, cerebellar dysfunctions), myoclonus, and behavioral abnormalities.
2. Lab tests: EEG shows periodic sharp waves. MRI with DWI (diffuse-weighted imaging) may reveal abnormal
cortex and basal ganglia. CSF is usually normal, but positive protein 14-3-3 is helpful in diagnosis. Definite
diagnosis is only made by brain biopsy or autopsy.
Treatment
Symptomatic treatment only; no effective therapy is available currently. Death usually occurs within one year of
symptom onset.
Normal Pressure Hydrocephalus (NPH)
It’s a potentially treatable form of dementia probably due to impaired CSF outflow in the brain.
Essentials of diagnosis
1. Classic triad: dementia, gait disturbance (“shuffling gait”), and urinary incontinence. There are generally no
signs of elevated ICP and headaches.
2. Diagnosis is mostly made by clinical features and LP (lumbar puncture), which will usually show normal or
mildly elevated CSF-P (pressure), and will improve symptoms. CT or MRI may reveal ventricular enlargement out
of proportion to sulcal atrophy.
Treatment
1. Repeated spinal taps to remove large-volume CSF is the initial helpful therapy.
2. The preferred treatment is ventricular shunting, although variances and complications are common and potentially
severe, which require vigilance in the follow-up.
Elevated Intracranial Pressure (EICP)
EICP is a potentially devastating complication secondary to trauma, central nervous system (CNS) tumors,
hydrocephalus, hepatic encephalopathy, or impaired CNS venous outflow.
I. Acute EICP
Essentials of diagnosis
1. Typical symptoms include nausea, headache, agitation, amnesia, and visual deficiency; severe cases may also
have confusion, ataxia, spasticity, seizure, and coma.
2. P/E may find papilledema (irregular blurred disc margin with tortuous vessels).
3. CT/MRI may show ventricular enlargement or shrinking. LP confirms elevated ICP (> 500 mmH2O).
Treatment
1. Intubation/hyperventilation (fast effect).
2. Anticonvulsants.
3. Osmotic diuretics (mannitol +/- furosemide). Be cautious with an LP if a tumor or other space-occupying lesion is
present.
1. Risk factors: Strict vegetarians and gastric or ileal resection. 2. Features: Gradual, progressive, symmetric paresthesia,
stocking/glove- sensory deficits, spasticity, paraplegia, leg stiffness, weakness, bowel and bladder dysfunction, and dementia. 3. Lab
tests show pancytopenia with oval macrocytic RBC and hypersegmented WBC. Tx: Vit-B12 IM or large-dose PO.
Vertigo is an abnormal sensation of motion. It can occur in the absence of motion or when a motion is sensed
inaccurately. Spinning vertigo is usually of inner ear origin.
Disequilibrium is a sensation of impending fall or of the need to obtain external assistance for proper locomotion.
Vertigo and disequilibrium are common symptoms in neurologic disorders.
Previously known as benign essential tremor, it is a neurologic movement disorder characterized by involuntary
fine rhythmic tremor of a body part, primarily the head and upper limbs. It may be associated with autosomal
dominant inheritance and alcoholism.
Essentials of diagnosis
1. Patient usually has a family history and history of alcohol drinking, and presents with head and upper limbs
tremor, especially when reaching out for something. Finger-nose test is usually (+), whereas the legs are mostly (-).
2. Diagnosis by clinical features and excluding other diseases.
Differential diagnosis
Acute intermittent porphyria: Abdominal pain, headache, tremor, dizziness, confusion, and hallucination. Urine
porphobilinogen test (+) is necessary for differentiation.
Treatment
The most effective medication is beta-R blocker propranolol +/- primidone. Primidone is anti-convulsive (by
transforming to phenobarbital) but may precipitate acute porphyria.
HEARING DISORDERS
There are two types of hearing loss—conductive and sensorineural hearing loss, summarized below.
I. Open-angle Glaucoma
It’s the most common type of glaucoma, accounting for 90% of cases and mostly bilateral.
Etiology and pathogenesis
The basic pathology is gradual IOP increase due to the trabecular meshwork disorder and drainage obstruction,
causing progressive vision loss from peripheral to central areas.
Risk Factors: older age (>40), family history, diabetes, myopia, intraocular trauma or inflammation, steroid
medications, and the Black race.
Essentials of diagnosis
1. Over 40 y/a, frequent lens changes due to progressively decreased vision (early with perinasal field, often at
darkness), gradual headache, and painless increase in IOP. It may take years before diagnosis. Fundoscopy usually
shows cupping of the optic disc. Gonioscopy is used to visualize the anterior chamber and help to determine the
cause of glaucoma.
2. Lab tests: (1) Tonometry may be normal or increase (The borderline is around 20).
(2) If the IOP is normal, then a vision test is done, which may show peripheral field vision decrease (early stage).
Central field vision testing is important to evaluate the stage— positive result indicates advanced stage.
Treatment
1. Prevention is the most important treatment: (1) All > 40y/a should have eye exam per 3-5years; (2) Patients with
risks need annual exam.
2. Topical medications: In most cases, IOP can be controlled by a topical beta-R blocker (timolol or betaxolol
eyedrop, to decrease aqueous humor production), or pilocarpine (to increase aqueous outflow). If failed, a carbonic
anhydrase inhibitor (acetazolamide) is used.
3. If all medicines fail, laser trabeculoplasty is performed to improve aqueous drainage.
Age-related macular degeneration (AMD) is the No.1 cause of permanent, bilateral visual loss in the elderly (>
age 65), characterized by central vision loss and peripheral vision reservation. Risk factors include advanced age,
female gender, smoking, hypertension, diabetes, and family history.
Essentials of diagnosis
1. Atrophic macular degeneration (“Dry AMD”): Gradual painless central vision deficiency (with blurred vision),
the more common type. Peripheral vision and eye moving are usually normal.
2. Exudative macular degeneration (“Wet AMD”): Less common but more rapid and severe painless central
vision loss (due to leakage of serous fluid into the retina followed by neovasculization).
3. Fundoscopy (Image 151): It shows pigmentary or hemorrhagic lesion in the macular region—central scotomata,
line distortion, and drusen form (yellowish-white deposits).
Treatment
1. “Dry AMD”: Age-Related Eye Disease Study 2 (AREDS2) is recommended because it contains high-dose Vit-A
and C, lutein, and zeaxanthin in lieu of beta-carotene (for risk of lung cancer). Quit smoking.
2. “Wet AMD”: (1) The best initial therapy for foveal lesion and neovasculization is VEGF inhibitors such as
bevacizumab or ranibizumab, which are injected into the vitreous chamber and can effectively slow down
progression. (2) Laser photocoagulation may delay central vision loss in exudative macular degeneration and
proliferative retinopathy. However, the effect is limited.
Retinal Vascular Occlusion
1. A 70 y/o female is brought to the ER for a generalized convulsion followed by coma. Three days ago she had fever, cough, nausea,
headache, and blurred vision. Head CT and MRI scans are unremarkable.
2. A 30 y/o man is brought to ER for a generalized convulsion followed by coma. He has had fever, cough, nausea, headache, blurred
vision, and mood and behavior changes for the past 5 days. Drug screening results are (-). Head CT is (-), and MRI reveals unilateral
changes on the left side.
3. A 20 y/o man has had fever, cough, and headache for the past week followed by progressive bilateral weakness of the ankles, legs, and
arms, and difficulty breathing. P/E shows decreased limb sensation and reflexes.
4. A 35 y/o female presents with gradual, intermittent eye pain, blurred vision, slurred speech, clumsy limb movement, and bed-wetting
for the past month. Her symptoms come and go but progress slowly. P/E finds rapid speech and poor limb movements. Babinski signs
are (+) bilaterally.
5. A 30 y/o over-weight female presents with fatigue, headache, dizziness, and blurred vision for the past 10 days. She has no history of
fever or drug use in the past few months. Vital signs are normal (Nl). P/E reveals papilledema but no hemorrhage. Neurological signs are
normal. CT is (-).
6. A 30 y/o man is hit over the head with a blunt tool. He has a scalp laceration, and skull x-rays show a linear skull fracture. He is
conscious. His vital signs are Nl and neurologic signs are (-). The most appropriate treatment (Tx) is
A. supportive Tx
B. repair of skull fractures
C. laceration cleaning and closing
D. observation in hospital for 24 hours
E. antibiotics
7. A 20 y/o female is hit by a car, unconscious for a few min, and brought to the ER lucidly. She has minor bruises and lacerations, and
can speak normally, but cannot recall the accident. His vital signs are normal and neurologic signs are (-). What’s the most appropriate
next step?
A. Head CT scan
B. Observation for 24 hours by family members at home
C. Observation for 24 hours in ER
D. Head MRI
E. Supportive Tx
8. A 20 y/o man is hit by a car and brought to the ER in coma. P/E finds HR = 100/min, BP = 90/65 mmHg, with ecchymosis around
both eyes and behind both ears and clear fluid dripping out of his nose and ears. What’s the most appropriate next step?
A. Immediate IV fluid and surgery
B. Head CT
C. Prophylactic antibiotics
D. Cervical spine CT
E. Observation for 24 hours in ER
9. A 30 y/o man hits the right side of his head in a high-speed car collision and is in a coma in the ER. His vital signs are stable. P/E
reveals contralateral hemiparesis. CT scan shows a small crescent-shaped hematoma on the right and deviation of the midline structures
to the left. What’s the most appropriate next step?
A. Supportive Tx and observation
B. Cervical spine CT
C. Craniotomy
D. Hyperventilation, mannitol, and furosemide
E. Anti-bleeding Tx
10. A 30 y/o man is involved in a high-speed car collision. He experienced a brief coma at the site, regained consciousness temporally
and is now brought to the ER in a deep coma, with a fixed and dilated left pupil and contralateral hemiparesis. What’s the most
appropriate next step?
A. Head CT
B. Cervical spine CT
C. Craniotomy
D. Hyperventilation, mannitol, and furosemide
E. Supportive Tx
11. A 30 y/o man is involved in a high-speed car collision and is in deep coma, with bilateral fixed and dilated pupils in the ER. CT and
MRI reveal diffuse blurring of the gray-white mass interface and multiple small punctate hemorrhages, but no displacement of the
midline structures. What’s the best next step?
A. Supportive Tx and ICP monitoring
B. Anti-bleeding Tx
C. Craniotomy
D. Hyperventilation, mannitol, and furosemide
E. IV steroids
12. A 20 y/o man is shot in the upper part of the neck. The entrance and exit wounds are all above the level of the mandible angle. There
is a steady trickle of blood from both wounds that does not stop with local pressure. The patient is irritable but vital signs are stable.
What’s the most appropriate next step?
A. Continuous local pressure
B. Neck CT or MRI
C. Surgical exploration
D. Angiography
E. Supportive Tx
13. An 18 y/o man is hit by a blunt pole on both sides of the neck and face and comes to the ER with multiple facial lacerations and
persistent pain. His vital signs are stable. Neck exam reveals multiple tender points and limitation of movement. Neurologic exam is
normal. What’s the most appropriate next step?
A. Repair of the facial lacerations
B. Neck CT scan
C. Surgical exploration of the neck
D. Neck X-ray
E. Observation and support
14. A 20 y/o man suffers a burst fracture of the vertebral bodies in a motor vehicle collision. He has lost motor function and pain-
temperature perception on both sides distal to the injury, while maintaining good sense of vibration and position. What type of spinal
cord injury does he have?
A. Lateral cord injury
B. Brown-Sequard syndrome
C. Anterior cord syndrome
D. Central cord syndrome
E. Posterior cord syndrome
15. During a fight, a 17 y/o boy gets shot in the back, just to the left of midline. He has paralysis and loss of proprioception distal to the
injury on the left side, and loss of pain sensation distal to the injury on the right side. What type of spinal cord injury does he have?
A. Lateral cord injury
B. Brown-Sequard syndrome
C. Anterior cord syndrome
D. Central cord syndrome
E. Posterior cord syndrome
16. During a major car collision with sudden braking, a 70 y/o man hyperextends his neck. He develops paralysis and burning pain down
both upper extremities while preserving motor function in his legs. What type of spinal cord injury does he have?
A. Lateral cord injury
B. Brown-Sequard syndrome
C. Anterior cord syndrome
D. Central cord syndrome
E. Posterior cord syndrome
17-21: Match the following clinical scenarios with the most likely site of stroke.
A. SAH
B. Cerebellum
C. Pontine
D. Putamen
E. Basal ganglia
F. Cerebral cortex
G. Cerebral white matter
H. Brain stem
I. Ventricular
17. A 70 y/o man is brought to the ER for a generalized convulsion followed by coma. He drank alcohol and fell 5 hours ago, followed
by acute nausea, vomiting, and severe headache. P/E finds neck stiffness. Vital signs are stable except BP = 160/110 mmHg. CT is
ordered. CSF results are as in choice ‘A’ of the above table.
18. A 20 y/o athlete falls in a 100-meter running race and is brought to the ER. He presents with vomiting and right occipital headache.
P/E finds ataxia, gaze palsy, and left facial weakness. No hemiparesis is found.
19. A 70 y/o man fell down the stairs and hit the right side of his head. 4 hours later he is brought to the ER in a coma. He has a 5-year
history of hypertension and alcoholism. P/E reveals nystagmus and conjugated gaze deviated to the right side. His vital signs are stable.
20. A 70 y/o man fell down the stairs and hit the right side of his head. 4 hours later he is brought to the ER in a stupor. He has a 5-year
history of hypertension and alcoholism. P/E reveals paralysis and sensory loss of the left limbs and eyes deviated away from the
paralyzed side. His vital signs are stable.
21. A 70 y/o man fell down the stairs and hit the right side of his head. 10 min later he is brought to the ER in a deep coma. He has a 5-
year history of hypertension and alcoholism. P/E finds ‘pinpoint’ pupils reactive to light, bilateral limb paralysis with rigidity, and no
horizontal eye movement. His vital signs are stable.
22. A 60 y/o man fell at home and is brought to the ER. He has a 10-year history of hypertension and smoking. Vital signs are stable. P/E
shows weakness and numbness on the right face and arm, eyes deviated to the right side, and a left visual field deficit. He can relate what
happened before the fall in stuttering words. The most likely injured artery is
A. L. anterior cerebral artery
B. L. posterior cerebral artery
C. L. basilar artery
D. L. posterior inferior cerebral artery
E. L. middle cerebral artery (MCA)
23. A 60 y/o man awakes from a nap and cannot move his right leg. He has a 10-year history of hypertension and smoking. In the ER, his
vital signs are stable. P/E shows weakness and numbness of the right foot and a clumsy gait. He cannot recall what happened before
taking the nap. The most likely stroke is
A. L. anterior cerebral artery
B. L. posterior cerebral artery
C. L. basilar artery
D. lacunar
E. L. middle cerebral artery (MCA)
24. A 10 y/o boy is brought to the clinic by his mother for “weird daydreams and failing grades.” His school teacher reports that for the
past 2 months he was often inattentive in class and occasionally stared at the ceiling and smacked his lips for < 1 min. During these
spells, he stopped what he was doing and gave no response when his name was called. He never fell or wet his pants. This condition is
best treated with
A. carbamazepine
B. phenytoin
C. haloperidol
D. valproic acid
E. ethosuximide
25. A 28 y/o man is brought to the clinic for “strange behavior.” He is recently unemployed, and now has changes in mood and irrational
behavior (such as discarding his favorite books and collections). His wife notices that he occasionally has 2-3 min spells in which he is
unresponsive and remains motionless. A physician gave him an antipsychotic but this only made the spells worse. He sometimes
complains of smelling an unpleasant odor. This condition is best treated with
A. carbamazepine
B. phenytoin
C. haloperidol
D. valproic acid
E. ethosuximide
26. A 49 y/o female complains of (c/o) throbbing headache three times for the past mo. She describes it as bilateral and periorbital, with
nausea and vomiting, lasting for 2-3 hours, and alleviated with naproxen. Her sister has had similar symptoms before. She has no fever or
vision/memory loss but has a mild headache at this time. P/E shows normal results. The best next step is
A. amitriptyline
B. sumatriptan
C. propranolol
D. 100% oxygen
E. head MRI
27. A 49 y/o female complains of fever and headache over the past 2 days. She describes it as bilateral forehead and periorbital pain with
tearing, blurred vision, nausea and vomiting. It lasts most of the day without alleviation by naproxen. P/E shows T = 39oC, soft neck,
bilateral orbital edema, and decreased vision. CBC reveals elevated WBC. Head CT is normal. The best next step is
A. CSF analysis
B. taking blood for culture and sensitivity
C. IV ceftriaxone
D. 100% oxygen
E. IV oxacillin plus ceftazidime
28-33: Match the following clinical scenarios with the most likely diagnosis.
A. Pseudodementia
B. vascular dementia
C. B12 deficiency
D. Diffuse Lewy Body disease
E. Parkinson disease
F. Normal pressure hydrocephalus
G. Multiple sclerosis
H. Hepatolenticular disease
I. Locked-in syndrome
J. Pseudotumor cerebri
K. Pituitary adenoma
L. Alzheimer disease
M. Glioblastoma
N. Acoustic neuroma
O. Craniopharyngioma
P. Brain stem glioma
Q. Astrocytoma
R. Meniere disease
28. A 40 y/o female complains of intermittent eye pain and decreased vision on the right side for the past 3 months, during which she
was generally healthy and practicing a vegetarian lifestyle. P/E reveals slurred speech, ocular dysmetria, decreased vision acuity, and
poor bilateral hand and foot coordination. EEG is normal.
29. A 50 y/o man complains of decreased memory, fatigue, and mood changes for the past two months. He said he generally felt well
before he lost his job 3-month ago, and is now worried about getting Alzheimer disease. He feels better after taking prescribed medicine
for 2 weeks, but he has now run out. Neuropsychological testing reveals decreased recent memory, slow speech and movement, and
irritable mood. MRI is unremarkable.
30. A 55 y/o man presents with 3-month of progressive memory loss, tremor, and difficult walking. He has no history of chronic diseases
or medicine use. Neuropsychological testing reveals flat mood, decreased memory, difficult speech, rigid limb movement, and tremor
upon sitting. MRI is normal.
31. A 55 y/o obese female complains of decreased memory, slowed speech, “shuffling gait”, and urinary incontinence for the past
months. She denies any history of fever, headaches, chronic diseases, or medicine use. Neuropsychological testing reveals flat mood,
decreased memory, slowed but logic speech, and gait ataxia. CSF pressure = 180 mmH2O and biochemistry is normal. MRI shows mild
ventricular enlargement.
32. A 15 y/o boy complains of progressive headache, decreased vision, cold intolerance, and increased urinary frequency for the past 3
months. He has a short stature and worsening school scores. Neurologic exams reveal papilledema and bitemporal heteronymous
hemianopsia. Serum growth hormone and T4 are decreased. MRI shows a calcified mass above sella turcica.
33. A 50 y/o female complains of continuous dizziness, tinnitus, and hearing loss for the past 2 months. She denies fever or headache.
P/E reveals impaired facial expressions and an absent corneal reflex.
34. A 15 y/o boy complains of chronic headache that has bothered him since 3 months ago. He has used prescribed analgesics frequently
but the headache seems unchanged, with occasional nausea, vomiting, convulsion, and difficulty running in balance. He has no history of
drug abuse. CBC and P/E results are unremarkable. Head MRI reveals a 2-cm mass near the cerebellum vermis.
35. A 15 y/o girl presents with progressive headache, decreased vision, and increased breast size for the past 3 months. P/E confirms that
she has a taller stature and larger breasts than normal for her age. Neurologic exams reveal no other deficiencies except for papilledema
and bitemporal heteronymous hemianopsia. Serum prolactin and GH are increased. MRI reveals a 2-cm mass above sella turcica.
36. A 15 y/o boy presents with progressive headache, decreased memory and school scores, and frequent mood tantrums and rule
violations that started 3 months ago. Neurologic exams reveal increased sensation of pain and temperature. Blood tests are normal. MRI
reveals a 2-cm mass in the posterior fossa.
37. A 35 y/o female complains of gradual hearing decrease since she was pregnant 3 months ago. She has no fever, nausea, vomiting,
headache, dizziness, or tinnitus. She recalls that her aunt has a similar history. Audiometry finds she has low-frequency hearing loss. The
stapedial reflex is abnormal but the sensory hearing is normal. There are no other abnormal findings. What’s the most likely diagnosis?
A. Labyrinthitis
B. Otosclerosis
C. Hereditary hearing loss
D. Presbyacusis
E. Meniere disease
38-41 (Ophthalmology): Match the following clinical scenarios with the most likely diagnosis.
A. Open-angle glaucoma
B. Closed-angle glaucoma
C. Macular degeneration
D. Central retinal artery occlusion
E. Central retinal vein occlusion
F. Retinal detachment
G. Optic neuritis
H. Cataract
I. Amblyopia
J. Presbyopia
K. Myopia
L. Hyperopia
38. A 60 y/o female presents with 3 months of gradual, painless visual decrease for both nearby and distant objects. She has a 10-year
history of diabetes for which she’s taken oral hypoglycemics. She has no myopia, hyperopia, or other diseases. P/E finds decreased
central vision but normal peripheral vision. Fundoscopy reveals pigmentary lesion in the macular region. IOP is normal. Fasting serum
glucose is 150 mg/dL.
39. A 60 y/o female complains of a rapid, painless visual loss in the left eye for the past 3 days. She has a 10-year history of diabetes for
which she has taken oral hypoglycemics. She denies history of other chronic diseases. P/E finds significantly decreased central and
peripheral vision in the left eye, with normal movement. Fundoscopy reveals retinal hemorrhage, cotton wool spots, and edematous
fundus. IOP is Nl. Fasting serum glucose is 150 mg/dL.
40. A 60 y/o man presents with a sudden, painless blurred vision in the left eye that is progressively worse, “like a piece of thin cloth in
front of the eye.” He has a 10-year history of severe myopia and had cataract extraction 6 months ago. Fundoscopy reveals dark-red
debris hanging in the vitreous humor. IOP is elevated.
41. A 60 y/o man presents with headache, nausea, and a suddenly blurred vision with pain in the left eye that is progressively worse. He
has a 10-year history of severe myopia. P/E finds bilateral red eyes with hard eyeballs, steamy cornea, dilated pupils non-reactive to
light, and increased IOP. Fundoscopy reveals increased cup:disc ratio.
It’s a common infection and inflammation of the hair follicle, usually caused by Staph, Strep or Gram- bacterial
infections, and occasionally by yeast (Candida or Pityrosporum ovale), or mechanical reasons from ingrown hair
(more common with curly hair).
Essentials of diagnosis
1. A tiny pustule at the hair follicle opening with a penetrating hair (Image 84), usually starting as a trivial lesion
and developing into a furuncle or abscess with deeper infection.
2. Furuncles can become larger and more painful or pruritic, and involve adjacent follicles to form a carbuncle,
especially in patients with chronic disease, diabetes, or immunosuppression.
Treatment
1. Mild cases only need topical antibiotics (clindamycin, macrolides, doxycycline, TMP-SMX); severe cases require
systemic antibiotics (vancomycin, linezolid) and longer treatment for resistant patients with diabetes or
immunosuppression. Antiparasitic agents, such as permethrin and oral ivermectin, can be effective for Demodex
folliculitis.
2. Prolonged and large lesions require incision, drainage of pus, and culture to rule out MRSA. Patient should keep
the skin dry and clean, and avoid shaving with ingrown hairs.
Pilonidal Cyst
Also known as a pilonidal abscess or sinus, it is a cyst or abscess near the natal cleft of the buttocks that often
contains hair and skin debris. Possible causes include ingrown hair, excessive sweating, and repetitive local injuries,
leading to folliculitis, abscess, or Bacteroides infection locally.
Risk factors include middle-aged, obese male, sedentary lifestyle, and deep hairy natal clefts.
Essentials of diagnosis
A warm, tender, fluctuant and indurate abscess at the natal cleft; may be accompanied with purulent drainage or
cellulitis; may develop into multiple cysts and perianal fistulas. Rule out perirectal and anal abscess.
Treatment
1. Incision and drainage of the abscess under local anesthesia, followed by sterile packing of the wound. Follow-up
is needed.
2. Antibiotics are only used when cellulitis exists, with both aerobic and anaerobic coverage.
3. Educate patients to keep good local hygiene and shaving to prevent recurrence.
Acne Vulgaris
It’s a common disease of the hair follicle associated sebaceous gland among adolescents, usually self-limited. The
main etiology includes endogenous androgen-stimulation of sebaceous glands, follicular plugging or comedo
formation, and infection and inflammation caused by Propionibacterium acnes.
Essentials of diagnosis
1. There are two types of lesions:
(1) Non-inflammatory comedo (Image 85): The initial stage of lesion; can be numerous closed comedones
(whiteheads) or open comedones (blackheads). Comedo may be Assoc/w use of medicines (steroids, lithium) or
cosmetics (topical occlusion). Closed comedones can progress to inflammatory lesions. Epidermoid cysts can
develop along the eyebrows and by the ears.
(2) Inflammatory: Include papules, pustules, nodules, and cysts. A scar usually develops after the inflammation
heals; repeated picking and healing produce larger scarring.
2. Acne mostly develops at puberty and persists for a few years. Males usually have more severe cystic acne and
females tend to have cyclic flares and fewer comedones with menstruation.
Treatment
1. Topical tretinoin (Retin-A) and benzoyl are first-line treatment for mild lesion. Oral taking is for multiple or
recurrent lesions. Isotretinoin (accutane) is highly efficient but teratogenic; also with transient hyperlipidemia, liver
enzymes and depression.
2. Oral clindamycin or erythromycin is effective for moderate lesions (with inflammation). Tetracycline may be
needed for months for severe disease.
Differential diagnosis
Rosacea (Acneiform, Image 86):
Also known as “adult acne”, a similar skin disease with unknown etiology but associated with alcohol, spicy food
and sunlight exposure. Typically a middle-aged patient presents with erythema, papules, pustules, red nose, flushing
face, teleangiopathy, or rhinophyma (by alcohol). Treatment: (1) Topical metronidazole, tretinoin, or benzoyl for
most cases. (2) Systemic doxycycline or erythromycin for severe disease.
Felon
It’s a bacterial infection of the closed volar space of fingertip pulp, causing abscess and intense pain. Staph-aureus
is the most common cause. Gram- bacteria can be the cause in immunosuppressed patients. It’s commonly seen in
gardeners.
Diagnosis: Marked throbbing pain, tension, and edema of the fingertip pulp, usually after an injury.
Treatment: Incision and drainage plus antibiotics against Staph-aureus +/- Gram- bacteria.
Differential diagnosis
Sporotrichosis:
It’s the most common “Gardener’s lesion”, a chronic fungal infection of the hands and arms. Symptoms include a
small, painless, red lump that develops at the site of injury and infection, and eventually turns into an ulcer. Fungal
lymphadenopathy may occur. The ulcers will not heal if untreated (with itraconazole) and may remain ulcerated for
years.
FUNGAL INFECTIONS
Dermatophyte Infections
It’s a superficial infection caused by a dermatophyte fungus (Microsporum, Trichophyton or Epidermophyton) that
invades and lives in dead tissue of skin and appendages (nails, hair, and stratum corneum). Risk factors include
chronic diseases, diabetes, peripheral vascular diseases, immunodepression, and pets (a reservoir for Microsporum).
Essentials of diagnosis
1. Tinea corporis: Papulosquamous annular lesions of the body, with scaly, pruritic eruption and a raised, irregular
border, expanding peripherally and clearing centrally.
2. Tinea pedis/manuum: Presents as flaking, itching, macerated, and scaling borders (interdigital space) of the foot
(“Athlete’s foot”), or as thickened, scaly soles.
3. Tinea capitis (“ringworm”): Small, scaly, semibald, greyish patches on the scalp with broken lustreless hair, and
similar to seborrheic dermatitis.
4. Tinea cruris (“jock itch”): Chronic, ringed lesion on the groin, usually sparing the scrotum but co-existing with
Tinea pedis.
5. Tinea unguium: Thickened and lustreless nails.
6. Tinea barbae: Lesion on the face.
Diagnosis: Above clinical features plus 10% KOH smear showing mold hyphae.
Treatment
1. Oral terbinafine or itraconazole is necessary for Tinea capitis, corporis, and unguium.
2. Topical miconazole, clotrimazole, or ketoconazole is for Tinea cruris, pedis, and corporis.
Tinea (Pityriasis) Versicolor
A fungal infection caused by Pityrosporum orbiculare (Malassezia furfur), a yeast as part of the normal skin flora
(mostly asymptomatic). Risk factors include immunodepression, Cushing syndrome, and humid conditions.
Essentials of diagnosis
1. It’s characterized by multiple scaly patches of lesions that vary in color from white to brown, from
hypopigmented to hyperpigmented, and tend to coalesce. Lesions usually occur on the chest, neck, face or back
(Image 87).
2. Diagnosis is usually clinical, and can be confirmed by 10% KOH smear of the scale showing a “spaghetti with
meatballs” pattern of hyphae and spores.
Treatment
Topical selenium sulfide or ketoconazole for 7 days, or oral itraconazole if the lesion is large and severe.
Seborrheic Dermatitis
Also known as seborrhea, seborrheic eczema, dandruff, or cradle cap (infant), it is a common, relapsing, mild
dermatitis. It usually affects the sebaceous-gland-rich areas of skin, such as scalp, face, and torso. It may be caused
by Pityrosporum ovale, a normal yeast in sebum and hair follicles under special conditions.
Essentials of diagnosis
1. Rash varies with ages. In infants: Severe, red diaper rash with yellow scale, erosions, and blisters. On the scalp is
often a thick crust (“cradle cap”).
2. In adults: Typically presents with scaly, flaky, itchy, red patches around the ears, eyebrows, nasolabial fold,
midchest, and scalp; more localized (Image 88).
3. Immunodeficient patients: May develop an overlapping syndrome (severe seborrheic dermatitis, psoriasis,
arthritis, and Reiter syndrome).
Treatment
Antifungal shampoos is recommended--selenium sulfide 2.5%, ketoconazole 2%, or ciclopirox 1%. Nonmedical
shampoos may not be helpful.
Candidiasis
It’s a yeast infection caused by candida albicans, usually in patients with immunodepression and involving focal
skin and mucous membranes. Systemic infection may occur under very weak immunity. Risk factors include
prolonged systemic use of antibiotics, steroids, or cytotoxics, obesity, diabetes, pregnancy, debilitating disease, and
AIDS.
Essentials of diagnosis
1. Oral candidiasis (thrush; Image 32): White patches of exudates on the tongue or buccal mucosa.
2. Vulvovaginitis: White or yellowish virginal discharge with inflammation of the vaginal wall and vulva; more
common in patients with diabetes or pregnancy.
3. Intertriginous infection: Well-demarcated, erythematous, exudative, itchy patches; may be with small pustules;
usually occurs in the axilla, umbilicus, groin, gluteal folds.
4. Candidal paronychia: Red, painful swelling around the nail.
Diagnosis: Based on the above clinical features plus 10% KOH preparation to visualize fungi.
Treatment
1. Topical nystatin or ketoconazole/miconazole for mild cases.
2. Oral fluconazole for moderate systemic infection (including candida paronychia). Amphotericin is strong and
toxic, and only used for serious cases.
PARASITIC INFECTIONS
Scabies
It’s a parasitic skin infection by Sarcoptes scabiei (a tiny arthropod itch mite), spread by direct skin contact and
characterized by superficial burrows, intense pruritus, and secondary infections.
Essentials of diagnosis
1. Marked pruritus, erythematous and excoriated papules, and burrows (Image 89), commonly found on flexural
surfaces of finger webs, wrists, elbows, axillary folds, breast areola, and the genital areas.
2. Diagnosis: Based on clinical features plus visualizing the mite in scrapings with mineral oil under the microscope
(sometimes the mite may not be seen).
Treatment
Both patients and contacts should be treated with permethrin or lindane (Kwell) for several times. Oral ivermectin is
also effective. Anti-histamine drugs should be given for pruritus > 1 week.
Pediculosis (Lice)
It’s a skin infestation by lice that can live in different parts of the body, and is spread by body contact or sharing
clothes/bed covers mostly in unsanitary persons.
There are three common sites:
(1) Head lice--pediculus humanus capitis, living on the scalp and laying eggs attached to hair;
(2) Body lice--pediculus humanus corporis, living in clothing;
(3) Pubic lice--living on pubic hair. They secrete local toxins and cause pruritus.
Essentials of diagnosis
1. Itching and excoriations in unsanitary persons; may or may not have secondary bacterial infection.
2. Diagnosis is made by direct exam of the scalp, axilla, pubic area, and clothes for the lice.
Treatment
1. Wash the head and body frequently, and sterilize the clothes and bed covers fully.
2. Treatment of choice is permethrin. Lindane is less used due to its toxicity and resistance by lice.
IMMUNE-MEDIATED SKIN DISEASES
Angioedema
It’s an abrupt swelling of the face, eyes, tongue, or/and airway typically associated with minor physical trauma.
While it’s often idiopathic, it can be due to a hereditary deficiency of C1 esterase inhibitor.
Essentials of diagnosis
1. Abrupt swelling of the face, eyes, or/and tongue with stridor following minor physical trauma or without a
clear reason. Pruritus and urticaria are absent. See Image 90.
2. The best test is for decreased C2 and C4 levels in the complement pathway and deficiency of C1 esterase inhibitor.
Treatment
1. Immediate airway protection is performed first. Effective therapies include glucocorticoids, antihistamines,
epinephrine (if severe), IV fresh frozen plasma (FFP), or/and C1 inhibitor.
2. Long-term treatment with androgens (danazol or stanazol) if helpful. Hereditary angioedema does not respond to
glucosteroid therapy.
Urticaria (Hives)
It’s both a clinical condition and disease as a type I hypersensitivity reaction, characterized by abrupt superficial
edema in a localized skin area, resulting from the release of vasoactive substances (histamine, prostaglandins, etc.)
from mast cells. It’s mostly acute and caused by a drug, food (gluten), virus, insect bite, or physical condition (such
as cold, pressure, or vibration). Chronic form is often idiopathic and can last over weeks-months.
Essentials of diagnosis
1. Severity can vary from a few itchy pumps to life-threatening anaphylaxis. Typical lesion is a reddish/blanching,
elevated papule/plaque (wheal) with variable sizes (Image 91), spreading widely but lasting only a few hours.
2. Severe allergic cases frequently show extra-skin presentations: fever, asthma, tongue and joint swelling,
angioedema, and GI symptoms. Some forms of urticaria (especially with joint/kidney disease) are associated with
neutrophilic vasculitis and hypocomplementemia.
3. Diagnosis is clinical, and causes are not always clear.
Treatment
1. Systemic antihistamines (hydroxyzine or diphenhydramine plus steroids if severe) are usually necessary. Topical
drugs are not effective.
2. Leukotriene receptor antagonists (monteleukast or zafirlukast) can be helpful.
Differential diagnosis
Drug Reaction/Eruption:
It can cause all four forms of hypersensitivity reactions and present as any form of urticaria, vasculitis, purpura,
lupus, blisters, or lichenoid lesions. It usually occurs 7-14 days after exposure, and is widespread, symmetric,
pruritic, and short-lived (1-2 weeks). Fixed drug eruptions are usually reddish papules and occur in the same area
with the same agent exposure. Rare but severe complications or reactions include erythroderma and toxic
epidermal necrosis (TEN). Treatment: Stop the offending drug and treat with antihistamines and specific support.
Atopic Dermatitis
It’s considered an autosomal dominant inherited allergic dermatitis, characterized by erythema, lichenified
plagues, and white dermatographism. 30-50% of cases are associated with autosomal dominant ichthyosis
vulgaris.
Essentials of diagnosis
1. It usually starts in childhood, and the child presents with dry, itchy, scaly patches, and plaques with red edema,
blisters, crusting, and white dermatographism mostly in flexural areas (Image 92). In adults, it can be chronic skin
thickening and scaling on any surface.
2. Triggers include stress, dry skin, foods (eggs, peanuts, milk, seafood, etc.), air-allergens (dust, pollen, and mites),
weather, etc. Associated diseases include allergic rhinitis, asthma, and cellulitis.
3. Diagnosis is clinical. Elevated IgE is helpful.
Treatment
1. Topical steroid +/- tacrolimus, tepid compression or oral anti-histamine agents.
2. Methotrexate can be used for severe cases. If no response, biopsy is needed to rule out malignancy.
Differential diagnosis
Ichthyosis vulgaris (Image 115):
A dermatosis without clear etiology, with autosomal dominant trends. The skin is normal at birth, and gradually
progresses to dry, rough, scaly skin mostly over the limb extensor surfaces (except the face and diaper area). It’s
usually worst in the winter, like “lizard skin”. Diagnosis is clinical and treatment is skin ointment.
Contact Dermatitis
It’s a type IV cell-mediated hypersensitivity reaction that develops from contact with an allergen previously
exposed to (sensitized), with activated macrophages and T-cells involved.
Common allergens include poison oak/ivy, nickel, detergents, perfumes, and cosmetics. It’s more prevalent among
adults.
Essentials of diagnosis
1. Itchy, erythematous, weepy, crusted patches; vesicles or plaques grouped in linear arrays or geometric shapes
(e.g., poison ivy, Image 93).
2. Types: According to the appearing time of symptoms after exposure, it can be divided into acute (< 48 hours),
subacute (in 1 week) and chronic type (> 1 week).
3. Diagnosis: Based on clinical impression. A patch test can help identify the causative allergen after the acute
treatment, if necessary.
Treatment
1. For mild lesions: Cool compression and topical steroid are adequate.
2. For severe cases: Systemic steroids, anti-histamine agents and IV fluid are usually needed to relieve symptoms.
Psoriasis
It’s a chronic, non-contagious, autoimmune dermatosis characterized by erythematous patches and silvery scales
due to dermal inflammation and epidermal hyperplasia. Vulgaris (guttate) is the most common type among others. It
may be associated with seronegative arthritis and polygenic factors, and more common in young patients.
Essentials of diagnosis
1. Typical psoriatic lesion is a round, sharply bordered erythematous patch with silver scales; mostly on extensor
surfaces (elbow, knee, scalp, nail, etc) and gradually enlarging from small patches. Lesions can be provoked by local
irritation, trauma, infection, or drugs (such as a beta-blocker, ACE Inh, and lithium).
2. Psoriatic arthritis (Image 60): Usually it’s present in the hands as “sausage fingers” and in the lumbosacral region
with “oil spots”. HLA-B27 is mostly (+).
3. Psoriatic nails: With typical pitting, nail plate lifting, and onycholysis.
4. Pustular psoriasis: Less common. It can be localized on the palms and soles, or widespread. It may cause life-
threatening metabolic disorder and serum protein loss.
5. Diagnosis: Based on clinical features. Auspitz sign (capillary bleeding when scale is scraped) is helpful and
biopsy may be needed to rule out malignancy.
Treatment
1. Topical steroids and UV light are commonly used, along with keratolytic agents, tar, or anthralin. Methotrexate is
effective for severe cases, and retinoids are effective for pustular psoriasis. Systemic steroids should be avoided,
because dosing off may induce psoriatic flares.
2. Psoriatic arthritis: NSAID should be first tried. If it’s ineffective, methotrexate is given. TNF-alpha inhibitor is an
effective new medicine.
Erythema Nodosum
It’s a panniculitis (fat cell inflammation) characterized by painful erythematous nodules under the skin on the lower
legs. It can be triggered by infection (Strep, TB, Coccidioides, etc.), drug reaction (sulfonamides, OCPs, etc), or
chronic inflammatory diseases (ulcerative colitis, Crohn disease).
Essentials of diagnosis
1. Tender, erythematous nodules on the lower legs, slowly spreading and turning brown or gray (Image 94); may be
accompanied with malaise, fever, joint pain, and local swelling.
2. Diagnosis is based on clinical features.
Treatment
Remove the causative factors and treat underlying disease. Use NSAIDs with caution because they can be both
therapeutic and causative.
Erythema Multiforme
It’s a type IV hypersensitivity reaction caused by many triggers and characterized by an annular, pruritic
cutaneous reaction. Those triggers include HSV infection (#1), medications, mycoplasma, or idiopathic causes.
Essentials of diagnosis
1. History of recurrent labial HSV infections or drug use.
2. Typical lesions are multiple target-like, centrally clear, erythematous macules on the skin (palms and soles) and
mucous membranes, progressing to blisters or erosions (Image 95).
3. Minor form is usually localized to the skin, whereas severe form can develop Stevens-Johnson syndrome or toxic
epidermal necrolysis. Diagnosis is clinical.
Differential diagnosis
Erythema Toxicum (Urticaria Neonatorum, Image 96):
An autoimmune rash in newborns, with typical small, red, white or yellow, papules or pustules on an erythematous
base; usually appear after the first day of life and resolve within 2 weeks. The pustules are benign lesions full of
eosinophils if scraped for examination. The infant generally looks well otherwise.
Stevens–Johnson syndrome: See TEN below.
Treatment
Symptomatic treatment is adequate for mild cases (antihistamines, etc). Acyclovir is needed for HSV infection and
burn care for severe cases. Systemic steroids have limited effects.
Toxic Epidermal Necrolysis (TEN) and Stevens–Johnson Syndrome (SJS)
TEN is a rare but serious, life-threatening hypersensitivity reaction with severe erythroderma and epidermal
necrosis, mostly induced by certain medications in adults. The main drugs that can cause it include sulfonamides,
phenytoin, carbamazepine, and allopurinol. Infections and cancers may also induce the condition, though rarely.
Stevens–Johnson syndrome (SJS, Image 97) is a milder form of TEN. Both diseases can be mistaken for
erythema multiforme, which is more often a hypersensitivity reaction to an infection (mostly by HSV, sometimes
by a medication) and is relatively benign. IVIG (not steroids) may be effective.
Essentials of diagnosis
1. Usually there is a history of medication use and maculopapular rash, followed by widespread erythema and
shedding of large sheets of skin, and eroded or hemorrhagic mucous membranes of the eyes, mouth and genitals, etc.
Systemic symptoms may exist.
2. Biopsy shows full-thickness damage of the epidermis, which is different from SSSS.
Treatment
Treatment should include maintenance of fluid and electrolyte balance, skin coverage, and preventive antibiotics, the
same as treating complications of burns (thermo-instability, electrolyte imbalance, secondary infection, etc.). IV IG
(not steroids) may be effective. The mortality risk is high.
Differential diagnosis
Staph scalded-skin syndrome (SSSS, Image 98):
Also known as pemphigus neonatorum or Ritter disease. It is characterized by severe, widespread shedding of
sheets of skin caused by the epidermolytic exotoxins of Staph-aureus in both children (more) and adults. The
widespread blisters with fluid and thin wall can easily rupture and be positive for Nikolsky’s sign. Biopsy shows
superficial damage of the epidermis only.
Warfarin-induced skin necrosis:
Painful skin lesion followed by bulla and skin necrosis on breasts, abdomen, thigh, or the hip a few weeks after
warfarin use. Treatment: Stop warfarin, use heparin for maintenance, and Vit-K against warfarin.
Pemphigus Vulgaris
Pemphigus is a rare group of blistering autoimmune diseases that affect the skin and mucous membranes in the
middle-aged people. It’s characterized by an intraepidermal blister that develops widespread painful erosions of the
skin and mucous membranes. The anti-desmoglein IgG causes keratinocyte adherence and stimulates proteinases
and complement in the cells, resulting in inflammation and cellular separation. The original cause is unknown.
Essentials of diagnosis
1. Usually presents with erosions, crusting, and weeping involving the skin and mucous membrane (Image 99), and
secondary infections.
2. Diagnosis: Nikolsky’s sign (+) (producing a blister by rubbing adjacent skin); skin biopsy shows acantholysis.
Immunofluorescence or ELISA can confirm specific anti-desmoglein IgG.
Treatment
1. Treat skin lesion with burn care.
2. High-dose IV steroids and fluid are necessary even with adverse effects. Anti-metabolites (azathioprine) can
replace steroids with severe adverse effects afterwards.
Bullous Pemphigoid
It’s a chronic, autoimmune, subepidermal, blistering skin disease, characterized by blisters and separation at the
epidermal basement membrane, and mostly seen in elder patients. It involves anti-pemphigoid IgG and C3 deposited
at the dermal-epidermal junction. Antigen-antibody complexes activate complement and eosinophils, resulting in
inflammation and separation of the basement membrane. The blisters are relatively firm, and epidermis and mucous
membranes are usually normal.
Essentials of diagnosis
1. Patient usually presents with a history of urticarial lesions, followed by stable blisters arising on erythematous
skin (it’s basically urticaria plus erythematous blisters, Image 100). Nikolsky’s sign is (-). Mucous membranes
are rarely involved.
2. Diagnosis is clinical. Skin biopsy shows subepidermal blister with eosinophil infiltration.
Treatment
Early use of topical steroids can help prevent blister formation. Systemic steroids to inhibit inflammatory lesions are
necessary in most cases.
Pityriasis Rosea
It’s an idiopathic, self-limited cutaneous eruption usually seen in children and women. It may or may not be
associated with an infection.
Essentials of diagnosis
Patient may have a history of URI, followed by an itchy, diffuse eruption of round-oval erythematous papules and
plaques covered with a fine white scale mostly on the trunk. The pathognomonic sign is a “herald patch” (a solitary
patch 2-6 cm in diameter preceding the rest of the rash) followed by smaller satellite rash (Image 101).
Differential diagnosis
Secondary syphilis, psoriasis, cutaneous T-cell lymphoma (parapsoriasis).
Treatment
Self-limited. Pruritus may be relieved by a topical steroid or talc. Strong sunlight or UVB treatment may hasten its
healing.
Kawasaki Disease (Mucocutaneous Lymph Node Syndrome)
It’s a rare, self-limited, acute inflammation of the blood vessels, skin, membranes, and LNs in children with
unknown etiology. Without treatment, the mortality rate may reach 1%.
Essentials of diagnosis
1. Patient may have a brief history of viral infection followed by a persistent high fever that is not very responsive to
common NSAIDs (acetaminophen or ibuprofen).
2. Typical presentations also include painful red swelling of the skin, membranes, conjunctiva, and LN (may be >
1.5 cm); cracked or bleeding lips, strawberry tongue; multi-form, purple rash on the trunk, palms, and soles (rarely
on face). See Image 36. Diagnosis is clinical.
Treatment
Early, high-dose IVIG (< 24 hours) plus aspirin (special recommendation in children) are highly effective and
important to prevent coronary artery aneurysms (the No.1 common complication); steroids are ineffective.
Supportive care in hospital is also important. If aspirin is a life-long need, Flu-vaccination can be used together.
DYSPLASIAS AND NEOPLASIAS
Seborrheic Keratosis
Also known as “senile wart”, it is the most common benign skin tumor that originates in keratinocytes, mostly
after 40 y/a. The etiology is unknown. Sometimes, they may erupt abruptly in a large number and cause a
paraneoplastic syndrome by tumor-releasing epidermal growth factors. There is no major harm except for a cosmetic
issue.
Essentials of diagnosis
1. Usually presents as multiple exophytic, waxy, brown papules, nodules, and plaques, with obvious follicle
openings (Image 102). Lesions can become smoother and redder after irritation or trauma.
2. Diagnosis is by clinical impression. Biopsy is rarely needed but will show hyperplasia of benign, basaloid
epidermal cells.
Differential diagnosis
Seborrheic dermatitis, actinic keratosis, lentigo, basal cell carcinoma, and squamous cell carcinoma.
Treatment
Curettage or cryotherapy is the cure.
Actinic Keratosis
It’s also called “solar keratosis” or “senile keratosis”. It is a premalignant condition of squamous cell carcinoma
(SCC) in situ. Without treatment, it carries 20% risk of slow progression to SCC. It’s mainly caused by sunlight
overexposure and more common in fair-skinned, older people.
Essentials of diagnosis
1. Typical lesion is an erythematous, thick, scaly, crusty, and sharply demarcated patch of skin, mostly on sun-
exposed areas (particularly face, neck and arms; Image 103). Early lesions may be difficult to visualize but easier to
find by palpation.
2. Diagnosis is clinical. Biopsy may only be needed when the lesion is thick and large (to exclude SCC), and will
show intraepidermal atypia over a sun-damaged dermis.
Differential diagnosis
Bowen Disease (Image 104):
It’s another form of SCC in situ, an early stage or intraepidermal form of SCC; may be due to solar damage,
arsenic, immunosuppression, or viral infection (HPV). It’s typically a gradually enlarging, well-demarcated
erythematous plaque with an irregular border and surface crusting or scaling on sun exposed areas of skin, mostly in
an elder female. Biopsy shows atypical squamous cell proliferation through the epidermis.
Treatment: Cryotherapy or topical imiquimod or 5-FU can destroy the lesion effectively. If cancer is suspected,
biopsy is done followed by excision or curettage. Use of sun protection is recommended.
Basal Cell Carcinoma (BCC)
BCC is the most common type of skin cancer, usually on sun-exposed area (face, neck, and head). It grows slowly
and locally, rarely metastasizes (Met), but can cause significant local destruction and disfigurement. The incidence
of trunk-BCC seems increasing.
Risk factors include chronic sun (UV light) exposure (#1 factor), arsenic exposure, and inherited BCC nevus
syndrome.
Essentials of diagnosis
1. BCC can appear as several forms: nodular (No.1 common, fleshy nodule with “pearl” surface, Image 105),
ulcerated, superficial, sclerosing, pigmented BCC, and BCC nevus syndrome, with various degrees of pigmentation,
ulceration, depth of growth, and translucent surface.
2. Diagnosis is confirmed by biopsy: Shows islands of proliferating epithelium that resembles the basal layer of the
epidermis.
Differential diagnosis
Melanoma, hypopigmented nevi, psoriasis, and Paget disease, etc.
Treatment
Any of the following treatment to remove the tumor can have > 95% cure rate: excision, curettage, electric cautery,
deep cryotherapy, Mohs’ surgery (with the best cure rate), and superficial radiation.
Squamous Cell Carcinoma (SCC)
SCC is a form of squamous epithelium carcinoma that may occur in many different organs, including the skin,
mouth, esophagus, prostate, lungs, vagina, cervix, etc. SCC of the skin is the No.2 common skin cancer, with local
destruction and a deadly metastatic potential. It’s mostly in elder patients with history of actinic keratosis or
chronic sun/UV light exposure (#1 risk factor). Other risk factors include chemical carcinogens, radiation
exposure, and chronic draining infection or lesion.
Essentials of diagnosis
1. Patients usually presents with an irregular plaque with surface scaling, erosion, or ulceration on sun exposed
areas of the skin, which can be in various forms of lesions--nodular (No.1 common, Image 106), exophytic,
verrucous SCC, and SCC with cutaneous horn.
2. Diagnosis is confirmed and graded by biopsy: Will show intraepidermal atypical keratinocytes, with malignant
epidermal cells penetrating the basement.
Treatment
Mohs surgery or aggressive surgical excision is necessary and the best therapy for most tumors, plus radiation or
chemotherapy for those with a high metastatic potential.
Differential diagnosis
Keratoacanthoma (Image 107):
It’s a relatively common, low-grade malignancy that originates in the pilosebaceous glands and closely resembles
SCC, or considered a “well-differentiated SCC.” It occurs on the site of sun exposure, a firm, flesh-colored
“volcano” nodule of about 1 cm2, with a sharp rising edge and kerato-debris in the crater center. The size may
increase rapidly in 3-4 months then decrease spontaneously. It’s usually difficult to be distinguished from SCC
clinically, except by histology showing benign features—well-differentiated intraepidermal atypical keratinocytes.
Table 10-2: Features of Basal Cell Carcinoma and Squamous Cell Carcinoma
Basal Cell Carcinoma (BCC, Image 105)
Nodular: No.1 common type, as nodular, pearly tumor with telangiectasias, and frequent ulceration.
Superficial: Usually appears as a flat patch on the trunk, with occasional bleeding or peeling; may have arsenic association.
Ulcerated: Usually crusted with bleeding and healing over.
Sclerosing: Appears as a spontaneously scarred tumor.
Pigmented: Due to secondary proliferation of melanocytes in the tumor; most common in the Black population.
BCC nevus syndrome: An autosomal dominant inherited disease, presenting with multiple BCCs from childhood, along with CNS
tumors, frontal bossing, and jaw cysts.
Treatment
1. Tumor confined to the skin should be treated by surgical excision with adequate margins. Mohs surgery has a
relatively high cure rate. Lymph node dissection is helpful for staging but not for survival increase. Chemotherapy
or radiation may only have limited effects.
2. Prognosis depends on the tumor thickness, depth, type of melanoma, location of lesion, and status of metastasis.
Malignant melanoma has the special potential to relapse and metastasize to distant organs after several years.
Therefore, patient follow-up is very important. When there is distant metastasis, melanoma is generally considered
incurable. The five-year survival rate is less than 10%.
Differential diagnosis
Atypical mole (Image 109):
Also known as dysplastic nevus, dysplastic melanocytic nevus, it is pigmented mole-like lesion on sun-exposed
areas, mostly 0.5-1 cm in diameter and larger than an ordinary mole, with irregular borders and colors and a flat
shape. They can be multiple and may not change much for a few months. Pathological results are between nevi and
malignant melanoma. Individuals with it are at higher risk for developing melanomas (especially with multiple
moles), and thus regular photographic monitoring is necessary. Early treatment of excision and biopsy is
recommended if they look complex, grow larger, or change in color, shape, or other features (itching, oozing, etc.).
Xeroderma pigmentosum (XP)
XP is an autosomal recessive genetic disorder of DNA repair in which the ability to repair damage caused by UV
light is deficient. The most frequent defect is mutations in the CDKN2A tumor suppressor gene. There are multiple
types. It’s more common in Japanese people. Due to the forced avoidance of sunlight, young patients are often
referred as “Children of the Night”.
Clinical features and diagnosis (Image 110)
1. Typical manifestations include numerous, sun-sensitive, rough-surfaced growths (solar keratosis--scaly, dry skin,
irregular dark spots on the skin) with freckling (early age); sun-sensitive painful eyes, spidery blood vessels, and
corneal ulcerations; hair growth on chest and legs.
2. Multiple types of BCC and other skin malignancies (SCC, melanoma) frequently occur at a young age in
those with XP.
Treatment
The most obvious and important part of treatment is avoiding exposure to sunlight, as well as close clinical
surveillance and education regarding melanoma risk-reducing behaviors. Keratoses can also be treated using
cryotherapy or fluorouracil.
Prognosis
Fewer than 40% of individuals with the disease survive beyond the age of 20. Metastatic melanoma and SCC are the
two most common causes of death with XP.
Kaposi Sarcoma (KS)
It’s a rare malignant tumor originated from lymphatic endothelium and vascular proliferation, but generally not
considered a true sarcoma. It’s associated with HIV and HHV-8 (a HSV), which is also called KS-associated-
herpesvirus (KSHV). It occurs particularly with chronic immunodeficiencies or AIDS (also known as an AIDS
defining illnesses). There are several clinical types.
Clinical types and diagnosis
1. Epidemic HIV-associated KS: Aggressive form of KS; it’s the most common HIV-associated malignancy and
decrease due to the application of “Highly active anti-retroviral (anti-HIV) therapy” (HAART).
2. Endemic or African KS: Mostly among Africans and immunodeficient patients.
3. Classic variant KS: It typically manifests as multiple red-purple nodules and surrounding pink-red macules, or
multicentric vascular macules and coalescent papules and plaques on the upper trunk, face, oral mucosa, and lower
limbs (Image 31).
4. Diagnosis is by clinical impression and confirmed by a tissue biopsy, which shows spindle cells and viral
protein LANA in the cells. If clinically indicated, internal imaging should be done.
Treatment
KS is not curable, and thus the main treatment is palliative only, based on the four subtypes and the state of the
disease. No surgery is effective or recommended. Antiretroviral therapy may induce regression of the HIV-
associated KS for some patients. Local tumors can be treated with cryotherapy or radiation; widespread lesions are
treated with chemotherapy (paclitaxel, anthracyclines, or interferon-alpha). Prognosis is poor.
Cutaneous T-Cell Lymphoma (Mycosis Fungoides)
It’s a rare, slow, progressive proliferation of T-cells rather than fungal infection. It may be Assoc/w chronic
exposure to irritating chemicals and immunostimulation leading to T-helper cells gathering in the epidermis. Male >
Female.
Clinical features and diagnosis (Image 111)
1. Stage I (early lesion, plaque): A pruritic, palpable, patchy, psoriatic plaque on the skin.
2. Stage II (nodules): Confluent, multicentric, reddish-brown nodules on the skin.
3. Stage III (tumors): May involve systemic lymph nodes and internal organs (liver, spleen, etc).
4. Diagnosis is clinical and confirmed by biopsy, showing the typical cerebriform lymphocytes (Sezary or
Lutzner cells).
Differential diagnosis
Early lesions are hard to be differentiated from dermatitis, therefore histology is necessary for any chronic
dermatitis resistant to decent treatment.
Treatment
Stage I: Topical steroids, retinoids, chemotherapy, or PUVA.
Stage II: Systemic retinoids, interferon, monoclonal antibody, or chemotherapy.
Stage III: Systemic chemotherapy mainly.
MISCELLANEOUS SKIN DISEASES
Ischemic Skin Lesions
Summarized in Table 10-5.
Table 10-5: Comparison of Ischemic Skin Lesions
Lesion / Clinical features, diagnosis, and treatment
Gangrene
Necrosis of body tissue, often with anaerobic infection. There are three subtypes: 1. Dry gangrene: Caused by lack of blood flow
to tissue, commonly from atherosclerosis. Risk factors: DM, vascular disease, smoking, etc. Early signs are dull pain, cold, pale flesh;
later the tissue (like the toe) turns bluish/black, dry, and shriveled. Diagnosis is clinical. 2. Wet gangrene: Due to ischemia plus
bacterial infection (mostly skin flora). The tissue becomes swollen, bruised, or blistered with pus. Diagnosis is clinical. 3. Gas
gangrene: Caused by anaerobic Clostridium perfringens infection, usually at a site of recent injury or surgery. Swelling around the
injured skin, with pallor, dark redness, and crepitus. The bacteria are gas-producing and very destructive, causing an ER case.
Treatment: 1. Surgical debridement and necessary amputation is the major treatment; antibiotics are an adjuvant to surgery. 2.
Gas gangrene should be treated with hyperbaric O2, which is toxic to the anaerobic C. perfringens. Early preventive treatment for
susceptible injury (especially foot) is highly important.
Decubitus Ulcer
Ischemic necrosis resulted from continuous pressure on a skin area that causes compromised microcirculation to it. 1. Ulcers are
commonly seen in long bedridden patient (#1 Risk factor). Other risk factors: Lack of mobility, skin area with bone prominence or lack
of fat, urine/stool incontinence, etc. 2. Ulcers are graded by 3 degree/phases: (1) persistent redness; (2) ulceration; (3) destruction of
structures beneath the skin (muscle, fat). Diagnosis is by clinical impression.
Treatment: 1. Prevention is the best Tx – frequently and routinely moving bedridden patient and using special beds (distributing
pressure). 2. A mild ulcer is treated with routine wound care (hydrocolloid dressings, etc). 3. A severe ulcer requires surgical
debridement.
Differentiations of Miscellaneous Skin Lesions
Summarized in Table 10-6.
PEARLS--Table 10-6: Summary of Miscellaneous Skin Lesions
Disease / Clinical features, diagnosis, and treatment
Lichen Planus (Image 113)
A chronic intensely pruritic skin condition without clear etiology. 1. Violaceous, flat-
topped, polygonal papules; may have Wickham striae (white stripes) and ulceration. 2.
Lesions often appear initially on the genital areas or the trauma site. Most lesions resolve
spontaneously in ½-1 year, whereas the oral lesions can be longer. 3. Dx: Histology reveals
a “lichenoid pattern” (typical T-cell band at the dermal-epidermal junction with basal
layer damage). Tx: Mild lesions: topical steroids and tretinoin gel. Severe lesions: systemic
steroids can be added.
Lichen Simplex Chronicus (also “scratch dermatitis” or
“neurodermatitis”)
Itching, scratching, cyclic dermatitis. Tx: Topical steroids.
Acanthosis Nigricans (Image 114)
1. A condition of hyperkeratotic and hyperpigmented skin with velvety appearance,
usually in the intertriginous zones (nape of the neck, auxiliary and genital regions). 2. It
may be associated with diabetes and obesity (especially inherited with insulin resistance)
in young adults, and underlying adenocarcinoma (GIT mostly) in elder patients. 3. Dx:
Clinical. Tx: 1. Topical steroids or retinoid. 2. Weight reduction and exercise.
Leukoplakia
A focal, whitish, painless patch/plaque with clinical uncertainty. Usually it’s found on the
mouth mucosa, vulva and with granular texture that is hard to be removed. It’s associated
with smoking, alcohol, Vit-A or Vit-B deficiency, and risk of transferring to SCC. Treat
original disease.
Hairy Leukoplakia
A hairy, whitish, painless patch mostly caused by EBV, usually localized on the lateral
tongue of immune-deficient patient (such as AIDS; Image 33). Tx: Treat EBV and original
disease.
Chapter 10: High-yield Questions (HYQ)
1-6: Match the following clinical scenarios with the most likely cause.
A. HPV
B. HSV-1
C. HSV-2
D. VZV
E. Poxvirus
F. EBV
G. HIV
H. Vitamin deficiencies
I. Anti-endomysial antibody (Ab)
1. A 10 y/o girl presents with a 3-day’s fever and multiple painful vesicles on the perianal area, following a healed skin rash of dry, scaly,
and itchy patches on the same area a month ago. There is no evidence of local trauma, abuse, or other abnormal findings.
2. A 9 y/o girl presented with fever, malaise, and headache 3 days ago followed by pruritic vesicles in crops with crusting today. The rash
is present all over the body except the palms and soles. Her immunization history is uncertain. CBC is normal (Nl).
3. A 30 y/o man presents with a 3-day’s pruritic, erythematous papules, and vesicles over extensive surfaces of the elbows and knees
with scaling and petechiae. He has a history of chronic diarrhea for the past 3 months. He is otherwise fine. CBC, stool and urine analysis
are mostly normal.
4. A 20 y/o female presents with several oval, fleshy, shiny, waxy, painless papules on the genital area for the past month. She is sexually
active for a year. KOH smear of the tissue reveals large intracytoplasmic inclusion bodies. There are no other abnormal findings.
5. A 20 y/o female presents with several cauliflower-like, pruritic papules and nodules with gray-white color on the genital area for the
past month. She is sexually active for a year. There are no other abnormal findings. Acetowhitening test confirms the diagnosis.
6. A 25 y/o man presents with fever, fatigue, weight loss and a hairy, whitish, painless patch on the lateral tongue for the past month. He
has a history of homosexual behavior for several years. Physical examination (P/E) finds multiple lymph node (LN) enlargements. CBC
reveals WBC < 1000/uL with predominant lymphocytes (LC).
7-13: Match the following clinical scenarios with the best initial treatment.
A. steroid
B. oral oxacillin
C. vancomycin and gentamycin
D. oral metronidazole
E. tretinoin
F. systemic doxycycline
G. permethrin or lindane
H. incision and drainage
I. incision and drainage plus oxacillin
J. oral itraconazole
K. oral azithromycin
L. topical selenium sulfide or ketoconazole
7. A 60 y/o man presents with a 3-day’s high fever, headache, and painful left foot with purplish discolor of the skin with marked
swelling and tenderness. He also has tachycardia and hypotension. Blood glucose and WBC are elevated, with predominant neutrophils
and bands. IV fluid is started.
8. A 10 y/o boy is found with a superficial, pustular bulla on the nose, with yellowish crusting. It’s been there for the past 3-days and he
feels generally well except for mild fever and local pain.
9. A 60 y/o man presents with a 5-day history of 1-2 cm pruritic pustule at the hair follicle of the head, with warmness and tenderness.
He’s been on oral cloxacillin along with topical ketoconazole for the past 5 days and the pustule seems still the same. He is otherwise
feeling well.
10. A 60 y/o female fond of trimming roses in the yard had an injury on a right finger 5 days ago. She now presents with a mildly painful
red lump and ulcer on the finger. P/E finds moderate fever and swollen lymph nodes under the right armpit. CBC is normal.
11. A 40 y/o man complains of redness and pimples on the nose, cheeks, and forehead for the past month, especially after alcohol
drinking. He has a history of smoking and alcohol drinking for several yrs. P/E finds facial erythema, papules, pustules, and flushing, and
red nose and rhinophyma. There are no other abnormal findings.
12. A 50 y/o man presents with a month of small, itching, scaly, greyish patches on the scalp with broken lustreless hair and a semibald
head. He drinks alcohol and has diabetes for the past 10 years. There are no other abnormal findings.
13. A 50 y/o man presents with a month of multiple itching scaling patches of lesions on the chest with varied colors from white to
brown and hypopigmented to hyperpigmented. He drinks alcohol and has diabetes with a 10-year’s history. There are no other abnormal
findings.
14-20: Match the following clinical scenarios with the most likely diagnosis.
A. Ichthyosis vulgaris
B. Kawasaki disease
C. Atopic dermatitis
D. Urticaria (hives)
E. Toxic epidermal necrolysis
F. Staphylococcal scalded skin syndrome (SSSS)
G. Bullous pemphigoid
H. Pemphigus vulgaris
I. Erythema multiforme
J. Erythema nodosum
K. Contact dermatitis
L. Psoriasis
14. A 7 y/o boy presents with a month of dry, scaly, itchy, erythematous patches with blisters and whitening changes with local pressure
in flexural areas of both elbows. He recalls that he had a seasonal rhinitis before this skin rash. There are no other abnormal findings.
15. A 5 y/o boy has gradually progressed dry, rough, scaly skin over the limb extensor surfaces for the past few months, and it’s worse in
the winter. His uncle has a similar history. There are no other abnormal findings.
16. A 45 y/o female has recovered from a joint pain with aspirin treatment. Now she finds an itchy, reddish, blanching, elevated plaque
on the arm, spreading widely and recovering mostly in a few hours, accompanied with mild wheezes. There are no other abnormal
findings.
17. A 20 y/o female presents with multiple target-like, centrally clear, erythematous, erosive, itchy macules on the palm, sole and
perianal areas. She admits that she is sexually active and had multiple painful, erosive, erythematous vesicles on the labia twice for the
past 3 months. She denies other symptoms and recent drug use.
18. A 25 y/o Asian female presents with fever, congested conjunctiva, cracked lips, strawberry-like tongue, and painful, erythematous
swelling of the extensive skin, membranes, and lymph nodes. She denies any history of recent drug use and other diseases. Vital signs
are stable.
19. A 30 y/o man had a major seizure attack with aspirated pneumonia and has been controlled with antibiotics and anti-seizure agents
for the past 3 days. Yesterday he found multiple red itchy rashes on the chest. Today he is found with fever, tachycardia, hypotension,
widespread erythema, erosion, and shedding of large sheets of skin over the body. WBCs are elevated.
20. A 40 y/o man has chronic asthma under medical control. Now he presents with painful, erythematous, erosive, crusting rashes with
some pustules involving the skin and mucous membrane. P/E also finds that rubbing adjacent skin produces blisters. WBCs are elevated
and other results are suspended.
21-26: Match the following clinical scenarios with the most likely diagnosis.
A. Seborrheic keratosis
B. Acanthosis nigricans
C. Actinic keratosis
D. Keratoacanthoma
E. Squamous cell carcinoma (SCC)
F. Basal cell carcinoma (BCC)
G. Melanoma
H. Cutaneous T cell lymphoma
I. Kaposi sarcoma (KS)
J. Bowen disease
K. Paget disease
L. Lentigo
21. A 60 y/o man presents with a palpable, erythematous, sharply demarcated lesion on the forehead, with some scaly and crusting
changes over the past year. He likes outdoor activities all the times. Biopsy shows intraepidermal atypia over a partially damaged dermis.
22. A 60 y/o woman presents with a gradually enlarging, well demarcated erythematous plaque with an irregular border and surface
crusting or scaling on the left lower leg for the past month. She likes outdoor activities for years. Biopsy shows atypical squamous cell
proliferation through the epidermis.
23. A 62 y/o man presents with fatigue, darkening skin, abdominal distension, weight loss, and black stools for the past 2 months. He has
a history of smoking and alcohol drinking for 10 years. P/E finds hyperkeratotic and hyperpigmented skin with velvety appearance in the
nape of the neck, axillary, and inguinal regions. Lab tests reveal anemia and FOBT (+).
24. A 50 y/o man presents with a 4-mm nodule on the neck that started 3 months ago, with gradual, mixed changes of pigmentation,
erythema, ulceration, and smooth appearance. The size is about the same now as he noticed before. He likes outdoor activities all the
times. Biopsy shows islands of proliferating epithelium resembling the epidermis.
25. A 55 y/o man presents with a 6-mm nodule on the neck that began 3 months ago, with gradual, mixed changes of pigmentation,
erythema, ulceration, and irregular appearance. The size was about 4-mm 3 months ago as he noticed. He likes outdoor activities all the
times. Biopsy shows malignant cell proliferation invading the epidermis.
26. A 55 y/o man presents with a 6-mm firm nodule on the forehead that started 3 months ago, with flesh color, “volcano”-shape, and
kerato-debris in the center. The size was about 4-mm 3 months ago as he noticed. He has longed enjoyed outdoor activities. Biopsy
reveals relatively well-differentiated, atypical intraepidermal keratinocytes.
GYNECOLOGY
AMENORRHEA AND RELATED DISORDERS
Amenorrhea is defined as the absence of menstruation.
Primary amenorrhea: absence of menstruation and lack of secondary sexual characteristics by age 14. The absence
of menses alone by age 16 is called “isolated primary amenorrhea”.
Secondary amenorrhea: absence of menses for 3 cycles or 6 months with prior normal menses.
Etiology
1. Primary amenorrhea: Gonadal agenesis or failure (Turner syndrome), androgen insensitivity syndrome,
mullerian duct defect (Def), hypopituitary failure, constitutional development delay, etc.
2. Secondary amenorrhea: pregnancy (No.1 cause), hyper-/hypo-thyroidism, hypo-thalamic/pituitary failure
(Sheehan or Kallmann syndrome), polycystic ovarian syndrome, premature menopause, hyperprolactinemia,
anorexia nervosa, etc.
Diagnostic Steps
--Think of the defect or cause at three levels: (1) Uterus or ovaries; (2) genital tract; (3) pituitary, hypothalamus, or
CNS. Start evaluations as for secondary amenorrhea. Testosterone, LH: FSH levels and karyotype can help with
diagnosis.
1. Beta-hCG test is always the first consideration for most patients of reproductive ages.
P/E for outflow tract defects: May reveal absent uterus or vagina.
2. Prolactin test: Increased prolactin leads to decreased FSH and LH. Common causes are pituitary tumor,
hypothyroidism, and dopamine-antagonists (phenothiazines, etc.). The diagnostic means is TSH testing and CT/MRI
scan of the pituitary.
3. Progestin challenge: (1) If withdrawal bleeding occurs after 5-day’s progesterone (test ‘+’), the patient has
normal estrogen and outflow tract, and thus anovulation is the diagnosis.
(2) If the test is (-)—no bleeding, the estrogen-progestin challenge test is performed.
4. Estrogen-progestin challenge test: (1) If withdrawal bleeding occurs, the cause is at the follicle or the
hypothalamus-pituitary axis. (2) If there is no bleeding, Asherman syndrome is the diagnosis (endometrial fibrosis,
commonly caused by IUD or D&C).
5. Gonadotropins (FSH/LH) tests: (1) If the levels are low, meaning central GnRH is low, consider
hypothalamic/pituitary dysfunction (Sheehan syndrome, pituitary tumor, etc.).
(2) If FSH/LH is high, meaning the estrogen is low, consider gonadal failure (Turner syndrome, gonadal agenesis, or
17-hydroxylase deficiency).
Treatment
Treat underlying cause.
10-14: Match the following clinical scenarios with the most likely cause.
A. Gardnerella
B. Chlamydia
C. Trichomonas
D. Candida
E. Gonococcus
F. HSV2
G. HPV6 or 11
H. HPV16, 18, or 31
I. Mixed pathogens
J. Endometrial atrophy
K. Endometrial cancer
L. OCP use
10. A 25 y/o female comes to the physician for abnormal, painless vaginal discharge. She admits having “a couple of boy-friends” for the
past 2 years and not always used condoms. Pelvic exams show yellow-green, mucopurulent discharge from the cervix. Saline smear
reveals many WBCs without bacteria.
11. A 26 y/o female comes to the physician for intolerable, burning vaginal discharge. She admits having “a couple of boy-friends” for
the past 2 years and not always used condoms. Pelvic exams show malodorous, profuse, grayish, yellowish, frothy discharge from the
vagina, with petechiae in the cervix. Saline smear shows epithelial cells with numerous bacteria, WBCs, and flagellated pathogens. KOH
(Whiff) test is (+).
12. A 70 y/o female comes to the physician for abnormal, itchy vaginal discharge. She admits “frequently catching cold” for the past
year. Pelvic exams show thick, white, odorless, cottage-like discharge from the vagina, with erythema on the anterior wall. KOH test is
in suspension. Saline smear is (-) and pH < 4.5 (Nl).
13. A 36 y/o female comes to the physician for fatigue, weight loss, chronic, nonproductive coughs, and intermittent vaginal bleeding for
3 months. She admits having “a couple of boy-friends” for the past 5 years and never used condoms, with three abortions in the past year.
The bleeding occurs mostly after sexual intercourse. Pelvic exams show painless erythema with scant malodorous discharge in the
vagina, and a mass over the Os with irregular margin. CBC shows Hb = 10 g/dL and WBC = 1000/uL.
14. A 60 y/o female presents with fatigue and heavy, irregular vaginal bleeding for the past week. She occasionally uses OCP, smokes
and drinks alcohol for several years. Pelvic exams reveal mild vaginal atrophy without discharge. CBC shows Hb = 10 g/dL and WBC =
8000/uL.
15-19: Match the following clinical scenarios with the most likely type of ovarian tumors.
A. Epithelial
B. Germ cell (embryonal, choriocarcinoma)
C. Dysgerminoma
D. Endodermal sinus
E. Granulosa cell
F. Malignant teratoma
G. S-Leydig cell
H. Arrhenoblastoma
I. Endometrioid
J. Adrenal tumor
15. A 45 y/o female complains of gradually increased hair on the upper lip, chest, and proximal extremities, and deepening voice. P/E
finds clitorimegaly. Blood tests show markedly elevated DHEAS and normal testosterone.
16. A 25 y/o female complains of progressive fatigue, abdominal distention and pain, constipation, and irregular vaginal bleeding for the
past 2 months. She has moderate vaginal bleeding today. P/E finds an irregular, firm adnexal mass. Lab tests reveal markedly elevated
beta-hCG and AFP.
17. A 25 y/o female complains of progressive fatigue, abdominal bloating and distention, constipation, and irregular vaginal bleeding for
2 months. Pregnancy test is (-). P/E finds an adnexal mass. Ultrasound shows evidence of fluid. Lab tests reveal increased AFP, CA-125,
and CEA.
18. A 45 y/o female complains of gradual fatigue, abdominal bloating and distention, and irregular menses for the past 2 months.
Pregnancy test is (-). P/E finds a small adnexal mass. Lab tests reveal increased inhibin and estrogen.
19. A 45 y/o female complains of rapidly increased hair on the upper lip, chest and proximal extremities, and deepening voice. P/E finds
clitorimegaly and a lower abdominal mass. Blood tests show markedly elevated testosterone and estrogen, and normal DHEAS.
20. A 16 y/o girl presents with a firm, mobile, rubbery mass measuring 5 cm in diameter in her right breast. She noticed the mass 1 year
ago when it measured only 1-2 cm. What’s the most appropriate Dx and Tx?
A. Cystosarcoma phyllodes, radical resection
B. Giant juvenile fibroadenoma, cosmetic resection
C. Adenocarcinoma, radical surgery
D. Abnormal breast development, referral
E. Fibroadenoma, observation
21. A 30 y/o female from a small village presents with a firm, mobile, rubbery mass in the right breast that has been there for the past 5
years. It has grown slowly to its present size of 6x7 cm2. No evidence of local invasion or palpable lymph node is found. What’s the
most likely Dx?
A. Cystosarcoma phyllodes
B. Giant juvenile fibroadenoma
C. Adenocarcinoma
D. Abnormal breast development
E. Fibrocystic breast disease
22. A 48 y/o female has her yearly mammogram performed and is found to have “a cluster of micro-calcifications.” There is no history
of breast cancer in her family or relatives. She has two children and generally feels well. The best next step is
A. follow-up exam in 3 months
B. reassurance because 80% of the cases are benign
C. fine needle aspiration (FNA)
D. surgical removal of the “cluster” with biopsy
E. radiotherapy
23. A 40 y/o female has a 7-year history of tenderness and multiple lumps on both breasts. Their sizes seem to change at different times
in the menstrual cycle. For the past month, she’s had a persistent, firm, round mass on the left breast measuring 2.5 cm in diameter.
There is no family history of other diseases. What’s the most likely Dx?
A. Cystosarcoma phyllodes
B. Fibrocystic disease
C. Adenocarcinoma
D. Fibroadenoma
E. Polycystic disease
24. A 50 y/o female presents with a firm and mobile 2 cm mass in the left breast for the past 2 months. There is no history of breast
cancer in her family and relatives. She is generally well. The best next step is
A. re-examination in 3 months
B. mammography
C. FNA (core biopsy)
D. excisional biopsy
E. radiotherapy
25. A 51 y/o female presents with a firm, 3 cm mass with unclear borders in the upper left breast, mobile from the chest wall but not
mobile within the breast. The skin overlying the mass is retracted. The most likely diagnosis is:
A. cystosarcoma phyllodes
B. fibrocystic disease
C. adenocarcinoma
D. fibroadenoma
E. Paget disease
26. A 58 y/o female presents with a fast-growing, firm, 3.5 cm mass under the right nipple. “The most common type of breast cancer” is
diagnosed from a core biopsy. P/E shows axillary lymph nodes (-). The mammography reveals no other lesions. What’s the best
treatment for this patient?
A. Lumpectomy
B. Modified radical mastectomy (MRM)
C. Radical mastectomy
D. Radiotherapy
E. Chemotherapy
27. A 55 y/o female complains of fatigability and accidentally finds a hard and mobile 1.5 cm mass in her left axilla. P/E confirms this
mass as an enlarged lymph node without tenderness; her breasts and other lymph nodes are (-). T = 38oC. She denies history of
pregnancy or other medical conditions. What’s the most likely diagnosis?
A. Lymphoma
B. Lymph node (LN) infection
C. Breast cancer with metastasises
D. Lymph node hyperplasia
E. Lymph node TB
28. A 47 y/o female presents with a fast-growing, 2-cm mass in the left breast with local invasion. A lumpectomy and axillary lymph
node dissection were performed, with a pathology report of clear surgical margins, positive estrogen receptor (ER+), and metastatic
cancer in 5/10 axillary lymph nodes. What’s the best next treatment?
A. Chemotherapy
B. Tamoxifen
C. Radiation therapy
D. Follow-up exam in 3 months
E. Radiotherapy
17. (A). Epithelial tumor is the #1 common ovarian cancer. Primary Tx is TAH/BSO.
18. (E). Granulosa cell tumor; 80% is benign.
19. (G). Leydig cell cancer; adnexectomy should be done.
20. (B). It’s most likely a benign tumor. Incidence of breast cancer for a female < 20 y/a is extremely low.
21. (A). It’s a rare case of cystosarcoma phyllodes. Core or incisional biopsy followed by free resection is the best Tx.
22. (C). Although 80% of the microcalcifications are benign, because of her age it’s important to exclude malignancy with a FNA for
core biopsy before making other choices.
23. (B). Cystic mastitis or mammary dysplasia. First perform a mammogram to see if there are other lesions. FNA is therapeutic; if
bloody fluid is found, cytology is done. Biopsy may not be necessary if the masses change with menstruation.
24. (B). It can be a benign or malignant tumor, and thus a mammogram is started to make sure there are no other tumors in the breasts.
Then a core biopsy or excisional biopsy is followed. If the core biopsy is (-), excisional biopsy is still necessary to rule out cancer.
25. (C). It’s most probably an adenocarcinoma. Start with a mammogram to determine the number of tumors, and then perform FNA
biopsy to confirm Dx before making Tx choices.
26. (B). Infiltrating ductal carcinoma. MRM includes axillary dissection. ‘A’ is only used for a very small tumor located where most of
the breast tissue can be spared. ‘C’ is outdated and no longer used. ‘D’ is not needed when the whole breast is removed.
27. (C). ‘C’ is more likely given her age and lack of a history of breast-feeding. She needs a mammogram followed by LN biopsy. ‘A’ is
more likely if it’s a younger patient.
28. (A). Treatment for breast cancer with estrogen receptor ER (+): (1) ER (+) and LN (+): chemotherapy for premenopausal patients and
those with distant, blood-borne metastasis; ER blocker (tamoxifen) for postmenopausal patients. (2) ER (+) and LN (-): an ER blocker is
the best Tx, and it has a better prognosis.
Chapter 12
OBSTETRICS
Pregnancy tests: It can be done by an OTC-kit (over-the-counter) and lab serum tests for beta-hCG. Beta-hCG is
produced by the placenta and peaks at 100x103 mIU/ml by 10 weeks of gestation, decreased throughout the 2nd
trimester, and staying flat in the 3rd trimester. Beta-hCG levels double about every 48 hours during early pregnancy.
Diagnosis of pregnancy: Usually it’s made by presumptive signs of amenorrhea, nausea, vomiting, breast
tenderness, Incr skin pigmentation and striae, etc, confirmed by a (+) pregnancy test.
Developmental age (DA): The number of weeks and days since fertilization.
Gestational age (GA): The number of weeks and days measured from the last menstrual period (LMP). GA can be
determined by LMP, fundal height, quickening (at 17-18th week), fetal heart tones (at 10th week via Doppler), or
ultrasound (U/S).
Gravity: It refers to the number of times of pregnancies.
Parity: It refers to the number of pregnancies resulted in a birth beyond 20 week’s GA or a baby over 500g.
Trimester Breakdown
First trimester: fertilization until the 12 weeks (DA) or 14 weeks (GA).
Second trimester: 12 (DA) or 14 (GA) weeks until the 24 weeks (DA) or 26 weeks (GA).
Third trimester: 24 (DA) or 26 (GA) weeks until delivery.
Term Lengths
Pre-viable: fetus born before 24 weeks.
Preterm: fetus born between 25 and 37 weeks.
Term: fetus born between 38 and 42 weeks.
Postterm: fetus born after 42 weeks.
PRENATAL DIAGNOSIS, CARE, AND SURVEILLANCE
PRENATAL DIAGNOSTIC TESTING
MSAFP Testing
Maternal serum AFP is produced by the fetus and mainly found in the amniotic fluid, with small amount crossing
the placenta into mother’s serum and should be tested at 16-18 week’s gestation.
Common causes of high AFP: GA error (#1 common), neural tube defect (anencephaly or spina bifida), abdominal
(Abd) wall defect, placental abruption, multiple gestation, and fetal death.
Major cause of low AFP: Down syndrome; amniocentesis for karyotyping is recommended.
Amniocentesis
It refers to ultrasound-guided, trans-abdominal needle aspiration of amniotic fluid (cells) to evaluate fetal genetic
abnormalities, blood typing and lung maturity. Sensitivity for Down syndrome is about 65%. Risks are maternal
hemorrhage (1%) and fetal loss (0.5%).
Indications
1. At 15-20 week’s GA: To detect fetal chromosomal abnormalities when triple or quad screen is abnormal, or over
35 y/a with risk factors.
2. After 20 week’s GA: To get fetal blood type or detect fetal hemolysis in Rh-sensitised pregnancy.
3. In the 3rd trimester (after 34 week’s GA): To evaluate fetal lung maturity (lecithin/sphingomyelin ratio over 2.5,
or phosphatidylglycerol is normal).
Ultrasonography (U/S)
A noninvasive imaging method usually used for guidance of invasive prenatal diagnosis procedures, with limited
obstetric indications (fetal structural anomalies, best done at 18-20 week’s GA). For GA dating, the accuracy is + 5
days at < 12 week’s GA, and + 7 days at 12-18 weeks. Adverse fetal effects are rare.
They are very important to prevent, diagnose, and treat the adverse conditions early.
Definition: Labor is a process with regular uterine contractions and progressive effacement and dilation of the
cervix, resulting in delivery of the fetus and expulsion of the placenta. Contractions occur at least every 5 min
lasting 30 sec.
Types of Pelvic Shapes
Gynecoid shape: The classic female pelvis and found in 50% of women. This pelvis is spacious for the fetal head to
pass through. Other pelvic shapes (Android, anthropoid, platypelloid shape) all are variably difficult for normal
delivery.
Fetal Orientation in Uterus
Lie: Orientation of the long axis of the fetus to the long axis of the uterus. The No.1 common lie is longitudinal.
Presentation: Portion of the fetus overlying the pelvic inlet. The most common one is cephalic.
Position: Relationship of a definite fetal part to the maternal bony pelvis. The commonest position is occiput
anterior.
Attitude: Usually refers to the position of fetal body and limbs, commonly as vertex.
Station: Degree of descending, recorded as number of cm above (“-”) or below (“+”) the ischial spine. E.g., if the
station is “3+”, it’s low enough for vacuum/forceps-aided delivery; if the station is “3-”, it’s too high for the assisted
delivery.
Obstetric Examination
Leopold’s maneuvers: Used to determine fetal lie (longitudinal or transverse) and fetal presentation (breech or
cephalic); with limitation.
Cardinal Movements of Labor
1. Engagement: the presenting part moving below the plane of the pelvic inlet.
2. Descent: the presenting part down through the curve of the birth canal.
3. Flexion: placement of the fetal chin on the thorax. These first 3 steps occur simultaneously.
4. Internal rotation: rotation of the fetal head in the mid pelvis from transverse to anterior- posterior.
5. Extension: the fetal chin moving away from the thorax.
6. External rotation: rotation of the fetal head outside the mother.
7. Expulsion: delivery of the fetal shoulders and body.
Stages of Labor
I. Gestational hypertension
An idiopathic hypertension that develops > 20 week’s GA, usually with mild proteinuria and similar complications
to those of preeclampsia. About 1/3 of cases can develop preeclampsia.
II. Chronic hypertension
Hypertension present prior to conception or at < 20 week’s GA. About 1/3 of cases can go to preeclampsia, with
similar complications as for preeclampsia.
Differential diagnosis
1. Transient hypertension in pregnancy: BP >140/90 mmHg shortly but not sustained, returning to baseline after a
transient period of observation or rest. No proteinuria.
2. Preeclampsia: Always needs to be ruled out (see below).
Treatment
Monitor BP closely and treat with appropriate anti-hypertensive medicines (methyldopa or labetalol). Avoid ACE-I
(causing fetal defects and uterine ischemia) or diuretics (lowering plasma volume).
Preeclampsia and Eclampsia
Eclampsia is an acute and life-threatening complication of pregnancy associated with pregnancy-induced
hypertension and seizures not related to brain conditions. It’s summarized in the table below.
HELLP syndrome:
Hemolysis, Elevated Liver
enzymes, and Low Platelets.
Complications: Prematurity,
placental abruption, stillbirth,
seizure, DIC, ICH, or maternal
death.
Eclampsia Typical preceding triad: 1. “ABC” + O2. 2.
headache, visual changes, Seizure control: IV MgSO4; if it recurs, IV diazepam.
and epigastric pain; severe
seizures may occur if not 3. BP control: labetalol +/- hydralazine. 4. Limit and
controlled with monitor fluids (in/out by Foley); monitor MgSO4 toxicity and fetal
anticonvulsants.
status.
5. Start delivery if patient is stable with seizures controlled.
Complication: Stroke,
6. Postpartum Tx:
hypoxic encephalopathy,
Same as that for the preeclampsia. Most seizures occur < 48hrs
aspiration pneumonia, or
postpartum.
fetal/maternal death.
HELLP Syndrome
It’s a syndrome characterized by hemolysis, elevated liver enzymes (LFTs), and low platelets. It occurs in 5-10% of
preeclamptic patients and more often in multigravidas than primigravidas.
Differential diagnosis
It may be confused with TTP and hemolytic uremic syndrome; hypertension may not always be present.
Treatment
Prompt delivery at any GA. Maternal steroid use may enhance postpartum recovery.
Complication
DIC, placental abruption, fetal demise, hepatic rupture, or ascites.
Gestational Diabetes Mellitus (GDM) – Important!
It is defined as the failure of a pregnant female to maintain fasting or post-challenge glucose levels in the normal
pregnant range, before or after a standard 2-hour 75g glucose tolerance test (GTT) or 3-hour 100g GTT. The
prevalence is about 2-3%. It’s mainly caused by the diabetogenic effect of human placental lactogen, placental
insulinase, cortisol, and progesterone.
Risk factors
Obesity, > 35 y/a, family history, back pain, and fetal macrosomia. If the fetus is larger for GA, the mother should
be suspected of GDM.
PEARLS: Screening for GDM
1. Glucose tests for everyone: urinary glucose test first; if it’s (+), 1-hour 50g GTT is followed (normal value < 140
mg/dL).
2. Patient with any risk factor (see above): 1-hour 50g GTT, 2-hour 75g GTT, or 3-hour 100g GTT can be
performed for the first visit.
3. For most patients at 26-28th weeks, a urinary dipstick test for glucose is done first; if it’s (+), a fasting urine or
plasma glucose test is performed.
PEARLS: Diagnosis of GMD (Any standard below)
1. Fasting plasma glucose > 126 mg/dL (7 mmol/L) or HbA1C > 6.5%: Overt diabetes.
2. 2-hour 75g GTT plasma glucose ≥ 200 mg/dL (11.1 mmol/L).
3. Any two of the standards below met in the 3-hour 100g GTT (most widely used in the US):
1-hour > 180 mg/dL (10 mmol/L);
2-hour > 155 mg/dL (8.6 mmol/L);
3-hour > 140 mg/dL (7.8 mmol/L).
If only one value is abnormal in the 3-hour GTT, “impaired GTT” is diagnosed.
Treatment
1. Strict diabetic diet.
2. If plasma glucose cannot be controlled by diet alone, regular/NPH insulin is needed. Oral hypoglycemics should
not be used (to avoid fetal hypoglycemia).
3. Ultrasound is used to evaluate fetal growth.
Pregestational Diabetes
It’s the condition that diabetes exists prior to pregnancy. Poorly controlled diabetes (best indicated by HbA1C > 10)
is associated with increased risk of congenital malformation and maternal morbidity during labor and delivery.
Maternal Treatment
1. Routine prenatal screening and care (including nutritional counseling).
2. Strict glucose control (80-100 mg/dL) to minimize fetal defects. Use insulin when needed instead of oral
hypoglycemics.
3. Regular renal, cardiac, and ophthalmologic exams to evaluate the extent of end-organ damage.
Fetal Treatment
1. 16-20 weeks: Ultrasound to determine fetal age, size and AFI for macrosomia, polyhydramnios and IUGR, etc.
2. 20-22 weeks: Echocardiogram to assess cardiac anomalies.
3. 3rd trimester: Close fetal monitoring (NST, BPP, etc.). Hospitalize the patient at 32-36th weeks if maternal
diabetes can not be controlled well.
Delivery
1. Early delivery is indicated with poor maternal glucose control, preeclampsia, or macrosomia, or with evidence of
fetal lung maturity.
2. C-section is appropriate for fetal weight > 4000g.
3. Continuous postpartum glucose monitoring, because the insulin demand is decreased rapidly after delivery.
Complication
1. Maternal: DKA (type I) or HHNK (type II), preeclampsia or eclampsia, cephalopelvic disproportion, preterm
labor.
2. Fetal: Macrosomia, cardiac, renal or neural tube defect, secondary hypoglycemia, hypocalcemia,
hyperbilirubinemia, polycythemia, IUGR, RDS, etc.
OBSTETRICAL COMPLICATIONS OF PREGNANCY
PEARLS--Table 12-13: Maternal Drug Use or Disease and Associated Fetal Effects
Maternal drug or disease / Fetal effects
Alcohol: Fetal alcohol syndrome.
Anesthetics; barbiturates: Respiratory, CNS depression; Vit-K deficiency Def).
Androgens and derivatives: Female virilization; over-development of male genitals.
ACE-Inh: Fetal renal tubular dysplasia, neonatal renal failure, oligohydramnios, IUGR, and cranial ossification Def.
Carbamazepine: Neural tube Def, fingernail hypoplasia, microcephaly, and IUGR.
Cocaine: Bowel atresia, Def of the heart, face, limbs, and GU tract, microcephaly, IUGR, and cerebral infarctions.
Coumadin derivatives: Nasal hypoplasia, stippled bone epiphyses, IUGR, and eye Def.
Cyanotic heart disease: IUGR.
DES (Diethylstilboestrol): Clear-C adenocarcinoma of the vagina or cervix; genital Def (for both male & female).
Folate antagonists (methotrexate): Increased rate of spontaneous abortion.
Lead: Increased rate of SAB or stillbirths.
Lithium: Heart Def (Ebstein anomaly).
MgSO4: Respiratory depression.
Organic mercury: Cerebral atrophy, microcephaly, intellectual disability, seizures, and blindness.
Sulfonamides: Displaces bilirubin from albumin.
Isotretinoin: Facial or ear Def, and congenital heart disease.
Phenytoin: Dysmorphic facies, IUGR, intellectual disability, heart Def, and nail Def.
Streptomycin and kanamycin: CN-8 (facial nerve) damage and hearing loss.
Tetracycline: Enamel hypoplasia or permanent tooth discoloration.
Thalidomide: Bilateral limb Def, cardiac and GI Def, anotia, and microtia.
Trimethadione and paramethadione: Cleft lip or palate, cardiac Def, microcephaly, and intellectual disability.
Valproic acid: Neural tube Def or craniofacial Def.
Vit-A and derivatives: Increasing SAB rate, thymic agenesis, cardiovascular Def, craniofacial Def, cleft lip or palate, and intellectual
disability.
Graves disease: Transient thyrotoxicosis.
Hyperparathyroidism: Hypocalcemia.
Myasthenia gravis: Transient neonatal myasthenia.
ITP: Thrombocytopenia.
SLE: Congenital heart block.
Chapter 12: High-yield Questions (HYQ)
1. A 34 y/o female at 28 week’s gestational age (GA) comes to the clinic for low back pain for the past week. She generally feels well
except for mild polyuria without dysuria. She denies history of fever, diabetes, hypertension (HTN), and other chronic diseases. Physical
examination (P/E) and urine analysis (U/A) results are mostly normal (Nl). 1-hr 50g glucose tolerance test (GTT) returns normal. What’s
the most appropriate next step?
A. 3-hr 100g GTT
B. 12-hr fasting glucose test
C. Urine culture
D. Empiric cephalosporins for E coli
E. Reassurance
2. The same patient as in Q1 comes for the exams again at 35-week’s gestation. She has no special symptoms but vaginal swab test for
Strep-B is (+). What’s the most appropriate next step?
A. Ampicillin for 10 days
B. Ampicillin 30 min before labor
C. Gentamicin 30 min before labor
D. Ampicillin 30 min before and after labor
E. Reassurance
3. A 36 y/o female at 16-week’s GA comes for the prenatal exams. A triple screen is done and shows high serum hCG, and low AFP and
estriol. The most likely defect is
A. trisomy 21
B. trisomy 18
C. trisomy 13
D. neural tube defect
E. fragile X syndrome
4. A 30 y/o female at 32-week’s GA is sent to the ER with headache, nausea, blurred vision, and abdominal pain for 30 min. P/E finds
BP is 170/120 mmHg with hyperactive reflexes, and Os is closed. Lab tests show proteinuria of 4.5 g/24hrs, serum creatinine = 2.5
mg/dL, and elevated hepatic enzymes. What’s the best next step?
A. IV MgSO4
B. IV MgSO4 + labor induction
C. IV Nitroprusside-Na
D. IV MgSO4 + betamethasone
E. IV Nitroprusside-Na + C-section
5-10: Match the following clinical scenarios with the most like condition.
A. Cord prolapse
B. Head compression
C. Uteroplacental deficit
D. Contraction stress test (CST) (+)
E. CST (-)
F. Oligohydramnios
G. Biophysical profile (BPP) score is 0-2
H. Maternal fever or anemia
5. Prenatal fetal heart rate (FHR) monitoring finds an apparent, gradual decrease in FHR with return to baseline, onset to nadir > 30 sec.
6. In a pregnant female, prenatal monitoring finds baseline FHR = 105 beats per min (bpm), BPP score = 4.
7. In a pregnant female, prenatal monitoring finds baseline FHR = 165 bpm, BPP score = 6.
8. Prenatal monitoring finds a gradual decrease in FHR with return to baseline (onset to nadir > 30 sec), whose onset, nadir, and recovery
occur after the start, peak, and end of uterine contraction, respectively.
9. In a pregnant female, prenatal monitoring finds an abrupt decrease in FHR below baseline (onset to nadir < 30 sec), lasting 15 sec to 2
min.
10. In a pregnant female, prenatal monitoring finds baseline FHR = 140 bpm, no late decelerations or significant variable decelerations in
10 min and for > 3 contractions.
11. A 30 y/o female at 32 weeks of GA comes to the physician and complains of decreased fetal movement. She denies other symptoms.
P/E results are normal. What’s the most appropriate next step?
A. Vibroacoustic stimulation
B. Nonstress test (NST)
C. CST
D. BPP
E. Labor induction
12. The same patient has no response after both NST and vibroacoustic stimulation, and BPP (by real-time ultrasound) is done with a
score of 5. What’s the best next step now?
A. Labor induction
B. IV steroid
C. CST
D. C-section
E. Reassurance
13. A patient at 34-week’s GA comes to the physician due to moderate vaginal bleeding without pain. Her bleeding is stopped after
proper treatment, and vital signs are stable. Baseline FHR = 140 bpm. She lives very close to the hospital. What’s the most appropriate
next step?
A. Test of fetal lung maturity
B. IV steroid
C. Forceps-aided delivery
D. C-section
E. Observation at home
14. A patient at 29-week’s GA comes to the physician for strong uterine contraction for 2 hours. She has a history of heart disease. Pelvic
exams show Os = 5 cm, 80% effaced. BPP scores = 6. What’s the best next step?
A. Acceleration of labor with oxytocin
B. Bed rest + steroid
C. MgSO4 + steroid
D. Steroid + ritodrine
E. MgSO4 + cervical culture + steroid
15. A patient at 29-week’s GA comes to the physician for severe vaginal bleeding and painful uterine contraction for 30 min. P/E finds
her HR = 120 bpm, BP = 88/58 mmHg; FHR is 165 bpm and with repeated late deceleration. Pelvic exams show Os = 5 cm, 80%
effaced. What’s the best next step?
A. Acceleration of labor with oxytocin
B. IV fluid + steroid
C. IV fluid + MgSO4 + steroid
D. IV fluid + C-section
E. Blood transfusion + cervical culture + steroid
16. A patient at 34 weeks of GA comes to the physician and presents regular painful contraction every 2 min with the Os 5 cm. Two
hours later, the Os is still 5 cm, and she feels less abdominal pain but tired. Her vital signs are stable and FHR is 125 bpm. What’s the
best next step?
A. Acceleration of labor with oxytocin
B. IV fluid + steroid
C. Test of fetal lung maturity
D. Vacuum induction
E. C-section
17-23: Match the following clinical scenarios with the most likely diagnosis.
A. Antepartum hemorrhage
B. Inevitable abortion
C. Threatened abortion
D. Uterine rupture
E. Hydatidiform mole
F. Fetal macrosomia
G. Oligohydramnios
H. Polyhydramnios
I. Ectopic pregnancy
J. Multiple gestations
K. Rh isoimmunisation
L. Prolapsed umbilical cord
M. Placenta accrete
N. Symmetric IUGR
O. Asymmetric IUGR
P. Middle pelvic contraction
17. A 35 y/o woman at 30 weeks of GA comes for a routine exam. Random serum glucose is 150 mg/dL. Ultrasound reveals duodenal
atresia and marginally normal fetal size. She denies a history of diabetes before pregnancy.
18. A 35 y/o woman at 32 weeks of GA comes to the physician for irregular fetal movements. She denies chronic diseases but admits
history of abortion before this pregnancy. FHR monitoring reveals frequent late deceleration. Fetal blood sampling shows
“erythroblastosis fetalis”.
19. A 35 y/o woman at 30 weeks of GA comes to the physician for regular painful uterine contraction for 3 hrs. P/E finds stable maternal
vital signs. FHR = 110 bpm. Cervical Os is 4 cm. Ultrasound reveals bilateral renal agenesis. The physician advises to allow spontaneous
vaginal delivery.
20. A 30 y/o female at 26-week’s GA comes to the physician for a regular exam. P/E finds her fundal height is lower than expected. She
claims she takes methyldopa for hypertension control. Ultrasound is done and reveals that the ratio of head and abdominal circumference
(HC/AC) is increased.
21. A 35 y/o woman at 34 weeks of GA of the 2nd pregnancy is brought to the ER. She has severe vaginal bleeding for 30 min following
4 hours of painful uterine contraction aided with oxytocin use. She has gestational diabetes and is controlled by insulin injection. P/E
finds maternal HR = 110 bpm, BP = 90/58 mmHg, and irregular abdomen on palpation. Fetal monitoring is nonreassuring.
22. A 28 y/o woman has moderate vaginal bleeding 40 min after delivery of a normal sized baby. P/E finds a firm uterus without vaginal
tears. Her HR = 100 bpm and BP = 90/60 mmHg.
23. A 30 y/o woman with 37 weeks of GA has regular, progressive uterine contraction for 5 hours with the Os of 5 cm. At 6-hour
checkup, the Os is still 5 cm. Maternal and fetal vital signs are stable. Internal pelvic assess reveals prominent ischial spines.
24. A 20 y/o woman is brought to the ER because she fainted at home following abdominal pain. P/E finds her HR = 118 bpm, BP =
90/58 mmHg, T = 37oC. Her abdominal is distended with diffusive tenderness, and with mild vaginal bleeding. What’s the best next step
for Dx?
A. Vaginal ultrasound
B. Urine beta-hCG test
C. Dilation and curettage (D&C)
D. Laparoscopy
E. Culdocentesis
25. Culdocentesis is performed to the above patient and 100 mL of bright blood is recovered. IV fluid is given to the patient. What’s your
best next step now?
A. Vaginal ultrasound
B. Laparotomy
C. D&C
D. Methotrexate
E. Laparoscopy
26. A 30 y/o female with 38-week’s GA comes to the ER for fever, regular painful uterine contraction for 2 hours. She has a history of
“STD” before pregnancy. P/E finds HR = 100 bpm, T = 39oC, and BP is normal. There’s diffuse tenderness over the uterus. Os is 5 cm
and still in progress. FHR = 160 bpm. What’s your best next step?
A. Ampicillin + gentamicin
B. Ampicillin + gentamicin + oxytocin
C. Clindamycin + gentamicin
D. Clindamycin + gentamicin + oxytocin
E. Clindamycin + gentamicin + C-section
NEWBORN DISEASES
APGAR Scoring
A rapid APGAR scoring helps determine the need for neonatal resuscitation.
1. A score of 8-10 means good cardiopulmonary adaptation.
2. A score of 4-7 reflects the possible need for resuscitation. Monitor and stimulate the newborn, with possible
ventilation support.
3. A score of 0-3 indicates the need for immediate resuscitation.
Notes: Any condition that increases or decreases mortality is more likely to be tested in the exam.
PEARLS: Important Screening Tests for Newborns
All infants must be screened for these diseases prior to discharge:
1. PKU (phenylketonuria): Deficiency in the enzyme phenylalanine hydroxylase (PAH) that leads to intellectual
disability. Treatment is a special diet low in phenylalanine for at least the first 16 years of life.
2. Congenital adrenal hyperplasia (CAH): It may result in errors in steroidogenesis and sexual development.
Treatment is replacement of mineralocorticoids and glucocorticoids and possible genital reconstruction.
3. Galactosemia: Enzyme (GALT) deficiencies that can cause feeding problems, failure to thrive, cataracts, and
sepsis. Treatment is to cut out all galactose-containing products.
4. Congenital hypothyroidism: It can lead to cretinism.
5. Other recommended screening tests: Homocystinuria (mainly causing thromboembolic complications);
biotinidase deficiencies (causing developmental delays); beta thalassemia (serious form of anemia).
Birth Injuries
It refers to all avoidable and unavoidable injuries that occur during labor and delivery. Common birth injuries are
summarized in Table 12-1 below.
CONGENITAL INFECTIONS
TORCH Infections
It refers to Toxoplasmosis, Other (Syphilis), Rubella, CMV, and HSV (Herpes simplex v) infections.
Table 13-11: Summary of Congenital Abnormalities of the Eye, Neck, and Chest
Disease / Clinical features, diagnosis, and treatment
Aniridia: Absence of the iris. If there is hemihypertrophy, always suspect Wilm tumor.
Coloboma: An iris/retina/eyelid defect, ranging from a small notch to a large cleft.
Branchial cleft cysts
It can be formed from incomplete closure of the branchial clefts; usually unilateral. Tx: Antibiotic therapy is used for infected cases.
Congenital torticollis (“wry neck”)
It usually results from injury to the sternocleidomastoid during delivery; cause from congenital cervical anomaly is less common. Tx:
Stretching exercises are helpful with muscular torticollis.
Breast hypertrophy: A temporary condition in the neonate secondary to increased circulating estrogen.
Pectus excavatum (funnel), pectus carinatum (pigeon)
Usually benign, isolated deformities of the chest, requiring surgical correction for cosmetic purpose.
Tracheoesophageal fistula
Commonest type: Atretic esophagus and a fistula between the trachea and the distal esophagus, leading to the air into the stomach and
small intestine. Cause: Malformation of the foregut. Dx: 1. Coughing or choking with swallowing or feeding. It may also be associated
with polyhydramnios, cyanosis, etc. 2. Lab: Inability to pass a catheter into the stomach (CXR shows an NG tube coiled in the
esophagus), or bronchoscopy usually confirms Dx. Tx: Surgical repair. Complication: Increased risk of congenital heart disease
(“CHD”, such as patent ductus artery, coarctation of the aorta) and multiple other defects (spinal cord, rectum, kidney, limbs).
Diaphragmatic hernia
Failure of the diaphragm development causes abdominal contents to enter the chest, resulting in pulmonary hypoplasia on the affected
side. Patients are born with respiratory distress and a scaphoid abdomen. P/E reveals bowel sounds in the chest, and CXR shows bowel
in the chest. Tx: Surgical correction.
CHARGE Syndrome
--It’s a set of congenital defects occurring in connective tissues.
C: Coloboma of the eye, central nervous system anomalies.
H: Heart defects.
A: Atresia of the choanae.
R: Retardation of growth and/or development.
G: Genital and/or urinary defects (hypogonadism).
E: Ear abnormalities and/or deafness.
1-4: Match the following clinical scenarios with the most likely diagnosis (Dx).
A. Cephalhematoma
B. Caput succedaneum
C. Subcutaneous fat necrosis
D. Facial palsy
E. Clavicular fracture
F. Erb-Duchenne palsy
G. Klumpke paralysis
H. Newborn jaundice
I. Subconjunctival hemorrhage
J. Capillary hemangiomas
1. 24 hours after a vacuum-aided delivery, a newborn is found with a swelling of the scalp crossing the suture lines. Mild fever and
conjunctival yellowing are also found. There are no other abnormal findings.
2. Five days after a difficult, vacuum-aided delivery, a newborn is found with palpable, rubbery, firm nodules on the cheeks and
forehead. There are no other abnormal findings.
3. 24 hours after a forceps-aided delivery with shoulder dystocia, a newborn is found fussy with regular feeding, but no vomiting. P/E
finds an asymmetric Moro reflex and crepitus over the left shoulder; no other abnormal findings.
4. 24 hours after a forceps-aided delivery with shoulder dystocia, a newborn is found fussy with regular feeding, but no vomiting.
Physical examination (P/E) finds ptosis and miosis on the right side, flexion and supination of the right elbow, and a “claw right hand.”
There are no other abnormal findings.
5-9: Match the following clinical scenarios with the most likely Dx.
A. Mongolian spots
B. Erythema toxicum
C. Cutis marmorata
D. Milia
E. Neonatal acne
F. Sebaceous hyperplasia
G. Nevus sebaceous
H. Capillary hemangiomas
I. Cafe-au-lait spots
J. Salmon patch
K. Child abuse
L. Staph scalded skin syndrome (SSSS)
5. A 6-month infant is brought to the clinic for feeding intolerance and irritability. P/E finds a large flat blue lesion on the buttock, with
relatively clear margins that fade into the surrounding skin with dark-red discoloration. There are no other abnormal findings.
6. A 1-year infant is brought to the clinic for feeding intolerance and irritability. P/E finds multiple flat dark-brown lesions over the
body, with clear margins and of various sizes. CBC reveals anemia. There is a family history of neurofibromatosis but no other
abnormal findings.
7. 24 hours after a forceps-aided delivery, a newborn is found fussy with regular feeding, but no fever or vomiting. P/E finds multiple
small papules on an erythematous base. Dominant eosinophils are identified in the scraped papules. The infant looks well and quiets
down after a while.
8. A 1-year infant is brought to the clinic and found with two 3 mm yellow-orange, hairless, wart-like plaques on the scalp. There are no
other abnormal findings.
9. A 1-year infant is brought to the clinic. The mother says that there were only two “strawberry-like warts” on the trunk 6 months ago
but now there are many of them. P/E reveals ten bright red, strawberry-like macules of 3 mm in diameter on the trunk. The color fades
after pressing. There are no other abnormal findings. The physician tells the mother to observe them and bring the infant back if they do
not disappear in 6 months.
10. 24 hours after a preterm delivery, a newborn has yellowish skin and begins to vomit milk and greenish fluid. The mother says that
the infant is breast-feeding and has sparse, clay-colored stool. P/E finds a weak but alert newborn with generalized jaundice without
fever. Lab tests reveal that serum bilirubin is 20 mg/dL, with predominant direct bilirubin. What’s the best treatment (Tx) for this
condition?
A. Stop breast-feeding
B. Observation
C. Surgery
D. Phototherapy
E. Exchange blood transfusion
11. 24 hours after a preterm and forceps-aided delivery, a newborn has conjunctival yellowing, blue lips, coughing, and tachypnea. P/E
finds a weak but alert newborn with mild jaundice, cyanosis, tachycardia, and tachypnea, but no fever. Lab tests reveal moderate
hypoxia and bilirubin of 5 mg/dL (mostly indirect bilirubin). CXR shows patchy infiltrates. Blood is taken for culture and mechanical
ventilation with oxygen is supplied. What’s the best next Tx?
A. Upper chest tubing
B. Phototherapy
C. Nitric oxide
D. Exogenous surfactant + glucocorticoids
E. Ampicillin + 3rd-generation cephalosporins
12. A toddler is brought for a regular developmental check-up. He can run, jump, and walks up and down the stairs. He can also undress
himself, make a 4-cube tower, say “I want,” and follow instructions to “Put it down and come over here.” What’s his most likely age?
A. 1 year
B. 2 years
C. 3 years
D. 4 years
E. 5 years
13. A 12 y/o boy is given 6 months of medical Tx for a chronic disease. He runs out of the drug and comes to refill his prescription. P/E
finds generally pale and dry skin with scratching tracks, and decreased pain sensation. CBC reveals a microcytic, normochromic
anemia. What’s the most likely vitamin deficiency?
A. B1
B. B2
C. B3
D. B5
E. B6
14. A 2 y/o girl is brought to the clinic for a regular check-up and immunization. Her mother says the girl’s required immune shots were
completed for the 6-month schedule, and her last immune shots were done a year ago for DTaP and MMR only. P/E finds a thin girl
with normal lab results. The most appropriate vaccination needed at this time is
A. Hib
B. PPV
C. Varicella
D. HAV
E. Meningococcus
15. When the girl in Q14 is between the ages of 4-6 years and in the fall season, she should receive all of the following immunizations
EXCEPT
A. DTaP
B. PPV
C. IVP
D. influenza
E. MMR
16-21: Match the following clinical scenarios with the most likely Dx.
A. Measles
B. Mumps
C. Rubella
D. Varicella
E. Erythema infectiosum
F. Pertussis
G. Viral pharyngitis
H. Croup
I. Epiglottitis
J. Hand-foot-mouth syndrome
K. Bronchiolitis
L. Tracheitis
M. Scarlet fever
N. Exanthem subitum
16. A 5 y/o boy is brought to the physician for a “spreading itchy rash” starting yesterday. P/E finds an alert boy without fever. There
are generalized erythematous macules and papules on the face, trunk, and legs, and several older rashes on his arms. Lab tests reveal
decreased Hb and increased indirect bilirubin.
17. A 4 y/o boy is brought to the physician for a painful rash spreading from his face to body since yesterday. P/E finds an alert boy
with mild fever. There are generalized erythematous macules and papules on his face (old), trunk, and limbs (fresh) with tenderness,
and several swollen lymph nodes (LNs). CBC reveals mildly decreased platelets.
18. A 3 y/o girl is brought to the physician for fever and a painful rash. The mother says that she had high fever 3 days ago and the rash
appears today spreading from the trunk to the face and limbs. P/E results: alert, no fever; with generalized rosy macules and papules on
the face, trunk, and limbs. CBC shows increased lymphocytes (LC).
19. A 3 y/o boy is brought to the physician for fever and a spreading itchy rash over his body for the past 2 days. P/E finds an alert boy
with mild fever. There are generalized pruritic, “teardrop”-like vesicles over the body in different stages of crusting and healing. CBC
reveals increased LC.
20. A 4 y/o boy is brought to the physician for fever, barking cough, hoarseness, and dyspnea for the past 3 days. P/E finds T = 38oC,
RR = 25/m, and rough respiratory sounds on auscultation. CXR-AP shows “Steeple sign.”
21. A 2 y/o toddler is brought to the physician for fever, tachypnea, dyspnea, and wheezing today. P/E finds T = 38oC, cyanosis,
crackles, prolonged expiration and hyperresonance to percussion. CXR shows lung hyperinflation and interstitial infiltrates.
22-25: Match the following clinical scenarios with the most likely Dx.
A. Diaphragmatic hernia
B. Tracheoesophageal fistula
C. Umbilical hernias
D. Omphalocele
E. Gastroschisis
F. Duodenal atresia
G. Hypertrophic pyloric stenosis
H. Meckel diverticulum
I. Hirschsprung disease
J. Intussusception
K. Colic
22. A newborn is coughs and chokes with cyanosis whenever he is fed. CXR shows an NG tube coiled in the esophagus with evidence
of aspiration.
23. A newborn is found to have a mass without a sac extending through the abdominal wall to the side of the umbilicus. The mother has
a history of polyhydramnios in uterus and premature delivery.
24. A 2-week old male newborn is found with frequent vomiting and yellow skin. The mother describes the vomiting as projectile and
with milk only. P/E finds an alert infant with mild jaundice and a small mass in the abdomen. Lab tests show hypo-K and hypo-Cl.
Abdominal ultrasound (U/S) and Ba-study are scheduled.
25. A 1 y/o infant is found with periodic crying due to abdominal pain shortly after feeding, which is relieved after a few hrs. He has no
fever, vomiting, or diarrhea. P/E finds an alert infant without jaundice or rash; the abdomen is distended and rigid with mild tenderness.
Blood and stool tests are normal.
26. A 2 y/o girl is found with recurrent fever, cough with sputum, dyspnea, cyanosis, greasy stool, and flatulence for the past 3 months.
P/E finds T = 39oC, tachypnea, tachycardia, cyanosis, and pulmonary rales. Abdomen is soft. CXR shows bilateral pulmonary
infiltrates. CBC reveals increased WBC with bands. What’s the best next step?
A. Supply antibiotics, digestive enzymes and vitamins
B. Start diet modification
C. Test sweat Cl
D. Take sputum for culture (C/S)
E. Screen for genetic deficiencies
27. A 3 y/o boy had fever, headache, polyuria, and dysuria for the past 3 days. His mother gave him amoxicillin and aspirin for the past
2 days. Now he has started to vomit and has become combative and confused. P/E finds T = 40oC, delirium, tachycardia, hypotension,
jaundice, hepatosplenomegaly, and renal tenderness. Urine analysis (U/A) shows WBC and protein. Blood tests show increased WBC
with bands, hypoglycemia, and normal LFTs. What’s the most appropriate test to determine the original pathologic condition?
A. Blood culture (C/S)
B. Blood ammonia levels
C. Liver biopsy
D. Urine culture
E. Urinary reducing substances
Opiates: Respiratory inhibition, miosis (“pinpoint pupils”), and coma. Antidote: Naloxone.
Penicillin: Anaphylaxis. Tx: “ABC”, epinephrine (EP), and antihistamine.
Phenytoin: Diplopia, nystagmus, ataxia, gingival hyperplasia, and hirsutism.
SSRIs: More sexual dysfunction, GI stimulation (N/V) and CNS toxicity (headache, insomnia and tremor) than TCAs. Toxicity
increases with MAOIs or TCAs. Treatment of overdose: Use BZs (lorazepam) for agitation, tremor, or seizures; NaHCO3 for
arrhythmia; avoidance of serotonergic medications.
TCAs: More serious adverse effects than SSRIs—“3 Cs”: Cardiotoxicity (typical QRS widening in ECG), Convulsion, and Coma;
also with anticholinergic effects (dry mouth, constipation, and urinary retention). Tx: NaHCO3 is effective on arrhythmia (but not
increasing TCA excretion); lorazepam on seizures.
Theophylline: Ventr-arrhythmia, GI upset, hyper-ventilation, convulsion, hypo-K, hypo-Mg, hypo-P, hyper-Ca, and hyperglycemia.
Tx: 1. Active charcoal; 2. hemodialysis; lorazepam for convulsion; amiodarone for Ventr-arrhythmia; avoid lidocaine.
Thiazides: Mnemonics—“3 lows 3 highs”: Hypo-K, -Na, and -Cl; Hyper-glycemia, -lipidemia, and -uricemia.
TPA, streptokinase: Bleeding tendency. Antidote: Aminocaproic acid.
Valproic acid: Neural tube defects (congenital) and hepatotoxicity (rare).
Vancomycin: CN8 toxicity, nephrotoxicity, and “red man syndrome” (due to histamine release, not allergy).
Warfarin: Bleeding tendency, teratogen, and drug-drug interactions. Antidote: Vit-K or FFP (fresh frozen plasma), recovering in 1-2
days.
THERMAL INJURIES
Burns
Burn injuries can be divided into several types. Fire injury is the most dangerous one because respiratory injury and
infection are usually involved. The most common cause of death from fire injury is smoke inhalation and CO
poisoning in a closed environment.
Degrees of skin burns
1st-degree: The skin may be discoloured but is fully intact (no blister); with mild pain.
2nd-degree: Blister formation with severe pain.
3rd-degree: Deeper burns, with destroyed skin appendages (such as sweat glands, hair follicles, even pain
receptors) and painlessness.
Body surface area (BSA) of skin burns
BSA% affected by skin injury is used to guide fluid resuscitation efforts after burns and is estimated using the
“Rule of 9s.” The head and arms are 9% each; the chest, back, and legs are 18% each; the genitalia/perineum is
1%; one hand's width is about 1% (to estimate patchy burns). Hand’s width is used to estimate the BSA% of patchy
burns.
Essentials of diagnosis
1. Altered mental status, headache, dyspnea, and chest pain suggest severe CO poisoning. Stridor, hoarseness, and
dyspnea imply laryngeal edema and airway compromise.
2. Severe burns are defined as combined 2nd- and 3rd-degree burns > 20% or 3rd-degree burns > 5% of BSA.
3. Lab tests: (1) Tests of levels of carboxyhemoglobin (CO-Hb) and amylase (from secondary pancreatitis) to
determine if 100% oxygen should be given.
(2) With suspension, CXR and especially bronchoscopy can help determine the exact extent of respiratory injury
(in a closed building).
(3) Foley catheter helps determine the adequacy of fluid resuscitation.
Treatment
1. Follow “ABC” (Airway, Breathing, and Circulation): If patient has severe respiratory injury (laryngeal edema),
intubate the patient before the airway is blocked.
2. If the CO-Hb level is significantly elevated (> 5-10%), 100% oxygen must be given.
3. Fluid resuscitation:
Day 1 (first 24 hours)—based on the Parkland Memorial Hospital formula: 4 ml/kg x BSA% burned. Ringer’s
lactate is the preferred fluid. Give half the fluid in the first 8 hours, 1/4 in the next 8 hrs, and 1/4 in the final 8
hours.
Day 2: Administration of ½ of the total amount, with colloids.
Day 3: A brief diuresis, no further fluid; urine > 4 mL/kg/hour.
It’s important for adequate IV fluid to maintain a urine output > 0.5-1 mL/kg/hr. Higher amounts are needed in
patients with respiratory tract burns, electrical burns, or recent escharotomies.
4. Give preventive H2 blockers (for stress ulcer) and topical antibiotics (silver sulfadiazine), but do not use
steroids.
5. Escharotomy is useful in circumferential burns to avoid limb circulation decrease. Do not break blisters. Skin
grafting may be needed for severe 3rd-degree burns (< 40% BSA).
Heat Disorders
They are divided into two main groups: exertional and nonexertional. Exertional disorders include heat cramps,
heat exhaustion, and heat stroke. Nonexertional disorders are malignant hyperthermia and neuroleptic malignant
syndrome (See “NEUROLOGY” chapter).
I. Heat Cramps
This is a mild heat disorder that can happen to any healthy person with fluid and electrolyte depletion. The patient
has painful muscular contractions lasting a few minutes. Sweating and neurologic functions as well as body
temperature (T) are all normal.
Treatment: Rest along with oral fluid with salts.
II. Heat Exhaustion
It’s a more severe heat disorder, with more systemic symptom (headache and anxiety) and slightly elevated body
temperature. Sweating and neurologic functions are still normal. It can progress to heat stroke if not treated.
Treatment: Oral fluid with electrolyte supplements, plus IV hydration if the patient is too weak.
III. Heat Stroke
It’s a very severe and potentially lethal heat disorder. Most patients have lost the ability to sweat and remove heat
from the body, resulting in a high body temperature, and symptoms of nausea, disorientation, blurred vision,
confusion, and seizures. Anuria, DIC, and lactic acidosis may also occur.
Lab tests: Rhabdomyolysis, and increased CBC, WBC, and BUN/creatinine ratio.
Treatment: (1) Bolus IV fluid replacement and rapid cooling of the body. The body should be placed in a cool
environment with a fan and sprayed with water. Ice water immersion should not be used as it can result in
hypothermia.
(2) Convulsions or shivering can be treated effectively with chlorpromazine and diazepam.
Hypothermia
It’s defined as a reduction of core body T < 350C (Nl is 37, rectal); T < 300C is severe hypothermia. The most
common cause is alcohol intoxication in the elderly. Patients usually have lethargy, confusion, and weakness.
Very severe hypothermia can cause death from arrhythmia. Typical ECG results are J-point elevation, ventricular
tachycardia, and even ventricular fibrillation.
Treatment
Patient can be effectively treated with a warm bed, bath, or heating blanket. Warmed IV fluids or humidified
oxygen can be administered in severe cases. Be watchful to avoid fast and excessive re-warming, which can lead to
arrhythmias.
DROWNING
It’s often associated with alcohol and drug abuse. The presentations depend on the severity of the injury, varying
from cyanosis, coughing, and signs of pulmonary edema, to coma or death.
Treatment
1. Time is crucial to save patient’s life. Remove patient from water and follow resuscitation “ABC”s.
2. Endotracheal intubation and O2 can be used as needed.
3. Continuous positive pressure mechanical ventilation (CPPMV): It’s the most effective treatment for hypoxia.
VENOMOUS BITES
Snake Bites
Most snakes are non-poisonous, and deaths from venomous snakebites are < 20% and mostly caused by
rattlesnakes. Lethal toxins include hemolytic toxin (causing hemolysis and DIC), cardiotoxin (causing heart
failure), and neurotoxin (causing muscular and respiratory paralysis). Proteases and lipase in the venom result in
local tissue damage (local wound).
Treatment
1. Transport the patient immediately to the nearest medical unit, and immobilize the patient to decrease the spread
of venom through the blood-lymphatics, which increases with muscular contraction. Place a compression bandage
to decrease lymphatic flow, but avoid making it so tight as to decrease venous flow.
2. Antivenin: It binds and removes toxins. Be aware that anaphylactic reactions with horse serum may occur.
3. Supportive treatment: Supportive ventilation and IV fluid for hypotension may be needed. Avoid ineffective or
risky treatment such as suction of the bites, incision, tourniquets, or ice immersion.
Spider Bites
It is an unusual type of injury and the effects of most confirmed spider bites are trivial, even though nearly all
species of spider are venomous.
Clinical features and diagnosis
1. Patient usually feels a sudden, sharp pain as if “Stepping on a nail or a piece of glass.”
2. Black widow bite: Causing a neurotoxic condition known as Latrodectism—abdominal pain, muscle pain, and
hypo-Ca.
3. Brown recluse bite: Causing a condition called Loxoscelism—“necrotic arachnidism”—local skin necrosis,
bulla, and blebs.
Treatment
Black widow bite: Administration of Ca and antivenin.
Brown recluse bite: Debridement, corticosteroids, and dapsone.
Cat, Dog, and Human Bites
Pathogens in cat and dog bites—Pasteurella multocida is the most common. Rabies (virus) is rare but fatal.
Rabies vaccination is required if patient is bit by a raccoon, a stray dog that cannot be observed or diagnosed, or a
dog with bizarre behavior or altered mental status.
Pathogens in human bites: Staph-aureus and Eikennella (Bacteroides) corrodens are common.
Treatment
1. Empirical therapy with amoxicillin + clavulanate.
2. Give a booster tetanus vaccination if the last immune shot was more than 5 years ago.
Patient request is usually clinical indication for analgesia during labor and other painful conditions. Anesthesia is
divided into general and regional anesthesia. Regional anesthetic techniques can be divided into central and
peripheral techniques. The central techniques include so called neuroaxial blocks (epidural anesthesia, spinal
anesthesia). The peripheral techniques can be further divided into plexus blocks such as brachial plexus blocks, and
single nerve blocks.
The goal of anesthesia is to provide the desired combination of analgesia, amnesia, and optimal operating
conditions (including muscular relaxation) while ensuring physiologic homeostasis. Careful assessment of the
patient’s preoperative conditions and consideration of anesthetic choices will improve the operative outcome. The
types of anesthesia include general anesthesia, neuraxial anesthesia (spinal and epidural), peripheral nerve blocks,
monitored anesthetic care (including deep sedation), and light or moderate sedation. Multimodal analgesia may be
used to decrease opioid side effects. This may include use of a combined technique (E.g., general anesthesia plus
epidural or peripheral nerve block analgesia) or the addition of non-opioid analgesics into the perioperative
analgesic plan. Absolute contraindications for regional anesthesia include refractory hypertension,
coagulopathy, daily use of low-molecular-weight heparin, elevated ICP, and serious infection.
Features of commonly used anesthetic methods
1. Local anesthesia (lidocaine, etc.): It is usually used for small local operations, before episiotomy, during
laceration repair, or for pudendal block. Topical anesthesia is commonly used to anesthetize the upper airway, nasal
passages, and trachea, for awake laryngoscopy and intubation, etc.
2. Epidural anesthesia: It’s a type of neuraxial anesthesia in the epidural space that is used for thoracic,
abdominal, pelvic, and lower extremity procedures. It provides the most effective pain relief for normal delivery as
well as elective C-section, tubal ligation, and other abdominal operations.
3. Spinal anesthesia: It’s a type of neuraxial anesthesia in the subarachnoid space at the lumbar level that is used
for a variety of lower extremity, lower abdominal, pelvic, and perineal procedures. It provides rapid-onset analgesia
but with more adverse effects (bradycardia, hypotension, dyspnea, secondary headache, etc.). Thus, the patient
must be monitored as for general anesthesia.
4. General anesthesia: It causes hypnosis/unconsciousness, amnesia, analgesia, muscle relaxation as appropriate
for the procedure, and autonomic and sensory blockade of responses to noxious surgical stimulation. It is usually
indicated in a major surgery, emergency C-section, serious FHR abnormalities, and cases with absolute
contraindications for regional anesthesia. It’s associated with most adverse effects and risks (patient’s aspiration,
death, neonatal respiratory depression, etc.).
VOLUME DISORDERS
II. By Na Level
Isotonic: Serum Na is 130-150 mEq/L, with proportional losses of fluid and electrolytes from the extracellular space. Tx: The deficit
should be replaced over 8-24 hours with normal saline (N.S.).
Hypotonic: Serum Na < 130 mEq/L, with more Na loss than water, or with excess water. Tx: The deficit should be replaced over 8-24
hours with Ringer lactate or NS plus 3% NaCl 100 mL IV if severe (Na < 120 mEq/L). Colloid (with 5% albumin) IV may be used
to replace blood loss.
Hypertonic: Serum Na > 150 mEq/L, with more water loss than Na, or with Na excess. Tx: The deficit should be replaced over 48
hours with 5% dextrose water (D5W), or D5 1/2NS.
Hypervolemia
Also known as fluid overload, hypervolemia is an abnormal increase in the body’s blood volume, particularly in the
sense of blood plasma.
Etiology
1. Fluid-retaining status: CHF, cirrhosis, nephritic syndrome, renal failure, etc.
2. Iatrogenic: Parenteral overhydration, etc.
Clinical features and diagnosis
1. P/E: Weight gain, JVD (jugular venous distention), peripheral edema, pulmonary edema (rales), ascites, etc.
2. Lab: Low hematocrit and albumin concentration.
Treatment
1. Fluid restriction; judicious use of diuretics; correction of underlying causes.
2. Monitoring urine output and daily weight, and treating patient accordingly.
ABDOMINAL SURGERY
Others: splenic rupture, IBS (splenic flexure syndrome); splenomegaly, splenic infarct, splenic abscess, splenic rupture.
II. (Middle) epigastrium
Acute pancreatitis: Acute, persistent upper abdominal pain radiating to the back; usually after meal/alcohol.
Chronic pancreatitis: Chronic epigastric pain radiating to the back; associated with pancreatic insufficiency.
Peptic ulcer disease: Epigastric pain or discomfort; occasionally localized to one side.
GERD: Epigastric pain associated with heartburn, regurgitation, and dysphagia.
Gastritis/gastropathy: Abdominal discomfort/pain, heartburn, nausea, vomiting, and hematemesis; may have history of ingestion of
alcohol or NSAIDs.
Functional dyspepsia: The presence of one or more of the following: postprandial fullness, early satiation, epigastric pain, or burning;
no evidence of structural disease.
Gastroparesis: Nausea, vomiting, abdominal pain, early satiety, postprandial fullness, and bloating. Most causes are idiopathic,
diabetic, or postsurgical.
III. Right upper quadrant (RUQ)
Biliary colic: Intense, dull pain located in the RUQ or epigastrium; associated with nausea, vomiting, and diaphoresis; usually lasting >
30 min and alleviated within 1 hour; generally benign P/E results.
Acute cholecystitis: Prolonged (> 4 hours) RUQ or epigastric pain, fever. Patients will have abdominal guarding and Murphy’s
sign.
Acute cholangitis: Triad of fever, jaundice, RUQ pain; may have atypical presentation in older or immuno-suppressed
patients.
Sphincter of Oddi dysfunction: RUQ pain similar to other biliary type pain without other apparent causes.
Acute hepatitis: Dull RUQ pain with fatigue, malaise, nausea, vomiting, and anorexia; +/- jaundice, dark urine, and light-colored
stools. Causes include hepatitis A, alcohol, and drug-induction.
Perihepatitis (Fitz-Hugh-Curtis syndrome): RUQ pain with a pleuritic condition; pain may radiate to the right shoulder;
aminotransferases are usually normal or only slightly elevated.
Budd-Chiari syndrome: Fever, abdominal pain and distention (from ascites), lower extremity edema, jaundice, gastrointestinal
bleeding, and/or hepatic encephalopathy.
Portal vein thrombosis: RUQ pain, dyspepsia, or gastrointestinal bleeding; most commonly associated with
cirrhosis.
Others: duodenal ulcer (perforation), hepatic abscess.
IV. Right lower quadrant (RLQ)
Appendicitis: Periumbilical pain initially that radiates to the right lower quadrant; associated with anorexia, nausea, and vomiting.
Cecal diverticulitis: Constant RLQ pain and low fever for several days; may have nausea and vomiting but no lower GI
bleeding.
Others: ectopic pregnancy, ovarian torsion,
V. Left lower quadrant (LLQ)
(Sigmoid) diverticulitis: Constant LLQ pain and low fever for several days; may have palpable sigmoid mass but no lower GI
bleeding.
(Sigmoid) diverticulosis: LLQ colicky pain and relieved by defecation; may also have typical painless rectal bleeding or hematochezia
(melena).
Others: sigmoid volvulus, ectopic pregnancy, ovarian torsion.
VI. Lower abdomen (left or right)
Infectious colitis: Diarrhea and associated abdominal pain +/- fever. Clostridium difficile infection can show acute abdomen and
peritoneal signs in the setting of perforation and fulminant colitis.
Nephrolithiasis: Usually mild to severe flank pain (left or right); may have back or abdominal pain.
Ectopic pregnancy: Triad of amenorrhea, unilateral lower abdominal pain, and spotting vaginal bleeding (1-2 weeks after LMP).
2. A farmer spraying a chemical at his ranch is brought to the ER. He’s dizzy and disoriented, with tachypnea, abdominal pain,
sweating, and incontinence of stool and urine. P/E shows T = 37.5oC, HR = 60/min, RR = 27/min, BP = 90/60 mmHg, and muscle
shivering. His clothes are removed. The best initial Tx is
A. IV fluid
B. atropine
C. pralidoxime (PAM)
D. diuretics
E. mannitol
3. A 19 y/o girl is brought to the emergency room from bed after breaking up with her boy-friend and taking “half a bottle of sleeping
pills” about 40 min ago for a suicide. She is mostly conscious but refuses to answer any question. P/E results: HR = 68/min, RR =
15/min, BP = 110/75 mmHg, and respiration is normal. The most appropriate next step is
A. consultation for the truth
B. flumazenil
C. gastric lavage
D. ipecac
E. a laxative
F. drug screening
4. A 50 y/o man has been unemployed for the past 3 months. He feels fatigue, sleepless, irritable, and hopeless. He takes two prescribed
medicines including a TCA for his symptoms for the second day. He has seizures after ingesting flumazenil for altered mental status
today. His vital signs are normal except for tachycardia. The best initial test is
A. Drug screening
B. ECG (EKG)
C. Electrolytes
D. Head CT
E. Head MRI
5. A17 y/o boy was burned when playing fire with gasoline in the countryside yesterday and is brought to the ER. The burned areas
include the head, one arm, and two hand-width patchy areas on the chest, with blister formation and severe pain. His vital signs are
stable with tachycardia, and his body weight is 50 kg. IV fluid is ready for ingestion. According to the Parkland’s Formula, the
immediate fluid need for the first 8 hours is
A. 2000 mL of Ringer’s lactate
B. 3000 mL of Ringer’s lactate
C. 4000 mL of Ringer’s lactate
D. 2000 mL of Ringer’s lactate with colloids
E. 3000 mL of Ringer’s lactate with colloids
F. 4000 mL of Ringer’s lactate with colloids
6. A 15 y/o boy is accidentally electrocuted by a high-tension electrical power line. He has both entrance and exit burn wounds in the
thigh. What’s the most appropriate next step?
A. Extensive surgical debridement
B. Arteriogram
C. Exploratory surgery
D. Large volume of IV fluid, osmotic diuretics, and alkalinisation of the urine
E. Support and observation
7. A 50 y/o female is rescued from a burning building. She has burns around her entire face with a dark, “smoked” throat. She is alert
and her vital signs are stable. What’s the most appropriate next step?
A. Tests of blood carboxyhemoglobin (CO-Hb) and blood gas (ABG)
B. 100% oxygen therapy
C. Bronchoscopy
D. Respiratory support (including tracheotomy and PPMV)
E. A large volume of IV fluid
8. A student was performing a laboratory test with a chemical when his sleeves suddenly caught on fire, and both of his arms were
burned severely. 5 days later now, both his arms appear dry, white, leathery, and painless. The burns are circumferential all around the
arms and forearms. His vital signs are stable. What’s the best next step?
A. Monitoring of peripheral pulses and capillary filling
B. Escharotomy
C. Fasciotomy
D. Eschar removal
E. Respiratory support
9. A 50 y/o man who weighs 70 kg has third-degree burns over all the legs and genitalia/perineum areas. During the first 8 hours in the
hospital, he needs all the following therapies EXCEPT
A. oxygen
B. 2300 mL of Ringer's lactate
C. a H2-R blocker
D. antibiotics without steroid
E. colloids or diuretics
10. During a fight, a 20 y/o man was stabbed twice on the abdomen. In the emergency room (ER) he is pale and shivering but alert, with
weak breathing at 28/min (RR). Other findings: a weak pulse of 130/min, BP = 65/50 mmHg, and a firm abdomen with extensive
tenderness. What’s the most appropriate next step?
A. High pressure oxygen
B. Fast IV fluid infusion
C. Foley catheter
D. Exploratory laparotomy
E. Preventive antibiotics
11. A 25 y/o man is stabbed in the chest with a long knife. The wound entry is just to the left of the sternal border, at the fourth
intercostal space. He is pale, shivering, and perspiring heavily. P/E results: BP = 60/50 mmHg, HR = 120/min; JVD (+); heart sounds
and bilateral breath sounds are weak. What’s the immediate next step?
A. Large-bore IV lines for fluid infusion
B. Upper chest needle
C. Lower chest tube
D. Median sternotomy
E. Exploratory surgery
12. A 70 y/o tall man fell off the curb while walking and is brought to the ER for severe chest pain. He is short of breath, pale, and
perspiring heavily. P/E results: BP = 80/60 mmHg; Hr = 120/min; JVD is (+); heart sounds are weak; bilateral breath sounds seem
normal. He has a history of hypertension for the past 10 years. What’s the most likely Dx?
A. Tension pneumothorax
B. Ruptured aorta aneurism
C. Myocardial infarction (MI)
D. Pericardial tamponade
E. Hemothorax
13. A 30 y/o man is stabbed in the right chest. He presents with moderate dyspnea, with BP = 90/60 mmHg, HR = 80/min. No breath
sounds are heard on the right side and there is hyperresonance to percussion. What’s the best next step?
A. Big-bore IV lines for fluid
B. Upper chest tube
C. Lower chest tube
D. CXR for plain pneumothorax
E. Chest CT
14. A 70 y/o man falls down the stairs and hurt his chest wall. He has persistent pain and tenderness over the 6th rib below the right
nipple. CXR confirms a right 6th rib fracture. No other abnormal signs are found. What’s the most appropriate next step?
A. CT scan for other injuries
B. Strapping or binding of the fractured rib
C. Local pain relief
D. NSAIDs
E. External fixation
15. An 18 y/o man is stabbed in the right chest and brought to a distant clinic. He is moderately short of breath. P/E results: BP = 90/60
mmHg, HR = 100/min, distant breath sounds at the apex, and no breath sounds over the lower half of the right chest. What’s the most
appropriate next step?
A. Big-bore IV lines for blood supply
B. Upper chest needle
C. Lower chest tube
D. Chest CT
E. Antibiotics
16. A 17 y/o girl is involved in a high-speed car collision. She presents with severe dyspnea, cyanosis, JVD, and multiple tender points
on the right chest. Her BP is 70/50 mmHg and HR is 140/min. No breath sounds are heard on the right hemithorax and it is
hyperresonant to percussion. The best next step is
A. big-bore IV lines for fluid and blood supply
B. upper chest needle
C. lower chest tube
D. CXR
E. surgery
17. A 70 y/o man receiving total parenteral nutrition (TPN) through a central venous line falls off the bed and has his central line
disconnected from the IV tubing. When the nurse hears the alarm and comes to the bed, the patient is dead. What’s the most likely Dx?
A. Pulmonary embolism (PE)
B. Air embolism
C. Tension pneumothorax
D. Apnea
E. ICH
18. A 20 y/o man is stabbed in the left chest. He has a large, flap-like, painful wound in the chest wall, and he sucks air through it with
every inspiration. His vital signs are stable. What’s the best next step?
A. Local pain relief
B. Cover the flap with Vaseline gauze
C. On-site upper chest needle insertion
D. Transfer to a nearby hospital for a chest tube
E. Mechanical ventilation
19. A 20 y/o man crashes his car against a tree at high speed and is brought to the ER. He has multiple bruises and tender points over
the lower left chest. P/E reveals that a segment of the left chest wall caves in when he inhales and bulges out when he exhales. CXR has
confirmed multiple rib fractures on the left without signs of pneumothorax. His vital signs are stable. What’s the most appropriate next
step?
A. Spiral CT scan of the chest and abdomen
B. Aortogram
C. Abdominal ultrasound
D. Fluid restriction, diuretics, and respiratory support
E. IV fluid and respiratory support
20. A 20 y/o man crashes his car against a tree at high speed and is brought to the ER. He has moderate respiratory distress and multiple
bruises and tender points over the lower left chest. His vital signs are stable. P/E reveals no breath sounds over the entire left chest.
Percussion is uncertain. A nasogastric (NG) tube is inserted, and CXR shows the NG tube curling up into the left chest with multiple air
fluid levels. What’s the best next step?
A. Spiral CT scans of the chest and abdomen
B. Aortogram
C. Abdominal sonogram
D. Respiratory support and surgery
E. IV fluid and respiratory support
21. A 30 y/o man with multiple severe fractures of the left leg has developed abrupt tachypnea, tachycardia, petechial rashes around the
neck, and disorientation. CXR shows bilateral patchy infiltrates, and CBC reveals low platelet count. What’s the most appropriate next
step of Tx?
A. Heparin
B. Steroid
C. Thrombolytics
D. Respiratory support
E. Fluid and diuretics
22. A 17 y/o boy was shot with a bullet, which entered in the left middle clavicular line, 2 inches below the nipple without an exit
wound. His HR is 100/min and BP is 90/60 mmHg. He’s conscious but irritable. CXR is done with uncertainty. What’s the most
appropriate next step?
A. Exploratory chest surgery
B. Exploratory laparotomy
C. IV fluid and close observation
D. Chest tube insertion
E. Chest CT
23. A 20 y/o man wrecks his car and presents with multiple fractures of the extremities and abdominal pain. CXR is unremarkable. His
HR is 140/min and BP is 70/50 mmHg. He has low hematocrit and central venous pressure (CVP). IV fluid is started. What’s the best
next step?
A. Abdominal CT
B. Abdominal sonogram
C. Diagnostic peritoneal lavage
D. Exploratory laparotomy
E. Blood transfusion
24. A 40 y/o female has a major surgery for multiple abdominal wounds. She’s been given a large volume of IV fluid. One day after the
surgery, she develops respiratory distress and a very tense, distended abdomen. The surgical retention sutures are cutting through the
abdominal wall. What’s the most appropriate next step?
A. Stop IV fluid and observe
B. Stop IV fluid and place an absorbable mesh over the incision
C. Open the incision and place an absorbable mesh over it
D. Stop IV fluid and place a nonabsorbable plastic to cover the incision
E. Exploratory surgery again
25. A 40 y/o female suffers severe pelvic injuries in a car crash. She is found to have a pelvic fracture and hypotension. Large volume
of IV fluid is given but her hypotension does not improve. Sonogram shows no intra- abdominal fluid but a pelvic hematoma. What’s
the most appropriate next step?
A. Pelvic surgical exploration
B. Exploratory laparotomy
C. Foley catheter
D. External pelvic fixation of and arteriographic embolization
E. Support and close observation
26. A 20 y/o man is involved in a motorcycle accident with a severe pelvic fracture. His vital signs are stable. He feels the urge to
urinate but is unable to do so. P/E reveals blood at the meatus, a scrotal hematoma, and a high-riding prostate. What’s the most
appropriate next step?
A. Retrograde urethrogram
B. Foley catheter
C. Repair of the anterior urethral injuries
D. Repair of the posterior urethral injuries
E. Observation
27. In a car accident, a 20 y/o man has multiple rib fractures and abdominal contusions. His vital signs are stable. Retrograde urethro-
cystogram shows normal results. A Foley catheter reveals gross hematuria. The most appropriate next step is
A. abdominal CT
B. abdominal sonogram
C. exploratory laparotomy
D. support and close observation
E. retrograde urethrogram
28. A 40 y/o man suffers from a blunt abdominal trauma in a car collision. His vital signs are stable and P/E results are unremarkable.
Urine analysis finds microscopic hematuria. What’s the most appropriate next step?
A. Abdominal CT
B. Abdominal sonogram
C. Exploratory laparotomy
D. Supportive treatment and close observation
E. Retrograde urethrogram
29. A 10 y/o boy has his arms crushed in a traffic accident, and arrives to the ER looking bruised, battered, and swollen. X-rays show
normal bones. His vital signs are stable. What’s the most appropriate next step?
A. Fasciotomy
B. Arteriogram
C. Exploratory surgery
D. IV fluid with NaHCO3 and diuretics
E. NSAIDs
30. A 20 y/o man suffers a gunshot, with the entrance wound in the anteromedial aspect of his upper thigh and the exit in the
posteromedial aspect of the thigh. He has normal pulses in the leg and normal X-rays of the femur. What’s the most appropriate next
step to do?
A. CT scan
B. Arteriogram
C. Exploratory surgery
D. Support and close observation
E. Analgesics and antibiotics
31. After a 7-hr abdominal surgery, a 50 y/o female has developed lethargy, confusion, and coma. Her medical charts show that her
serum Na is 154 mEq/L and urinary output is 450-550 mL/hr since the surgery, despite IV fluids being given at 150 mL/hr. What’s the
best next Tx?
A. IV 1.5 L of 5% dextrose
B. IV 1.5 L of 5% dextrose in normal saline
C. IV 3 L of 5% dextrose in normal saline
D. IV 3 L of 5% dextrose in half normal saline
E. IV 3 L of normal saline
32. A 20 y/o female has acute lower abdominal pain and a vaginal discharge for the past 5 hrs, with mild fever and nausea. Her vital
signs are stable and her last menstrual period (LMP) was 4 weeks ago. P/E shows diffuse lower abdominal and adnexal tenderness.
What’s the most appropriate next step?
A. Pelvic ultrasound
B. Gram stain and culture of the cervical discharge
C. Blood beta-hCG test
D. Oral ceftriaxone and doxycycline for 4 weeks
E. Surgical exploration
33. A 20 y/o female has acute lower abdominal pain for the past 5 hours, with mild fever, nausea, and distress. Her HR is 130/min and
BP is 80/60 mmHg. Her LMP was 4 weeks ago. P/E shows RLQ abdominal and adnexal tenderness. What’s the most appropriate next
step?
A. Pelvic exam
B. Abdominal CT
C. Blood beta-hCG test
D. Culdocentesis
E. Surgical exploration
34. A 20 y/o female has acute lower abdominal pain for the past 5 hours, with mild fever and nausea. Her vital signs are stable and her
LMP was 2 weeks ago. P/E shows RLQ abdominal tenderness. What’s the most appropriate next step?
A. Abdominal and Pelvic ultrasound
B. Abdominal CT
C. Blood beta-hCG test
D. Culdocentesis
E. Surgical exploration
35. A 70 y/o man has acute abdominal pain, tachypnea, and tachycardia for the past few hrs. P/E shows a silent abdomen with diffuse
tenderness and mild rebound, and threads of blood in the rectal exam. Careful history taking reveals that he has previously been
diagnosed with atrial fibrillation (AF) and has intermittently received medical treatment. His vital signs are stable. What’s the most
appropriate next step?
A. CXR
B. Angiogram
C. Surgical exploration
D. Abdominal X-rays
E. Abdominal CT
36. A 70 y/o man is brought to the ER after having two bowel movements with dark red blood over the past two days. He is pale and
weak but has stable vital signs. His past history is unremarkable. What’s the most appropriate next step?
A. Angiography
B. Upper endoscopy
C. Lower endoscopy
D. Both upper and lower endoscopy
E. NG tube aspiration
37. A 70 y/o man is diagnosed with a 0.5 cm ureteral stone, which is expected to pass spontaneously with large volumes of water
intake. Two days later, he develops chills, fever, and flank pain on the side with the stone. What’s the most appropriate next step?
A. Massive IV antibiotic therapy
B. Stone extraction
C. Abdominal X-rays
D. Ureteral stent or percutaneous nephrostomy
E. Abdominal CT
38. On the 6th postoperative day after a big obstetric surgery, a 40 y/o female suddenly develops severe pleuritic chest pain and SOB.
P/E shows that she is anxious and diaphoretic with tachycardia and JVD; BP = 90/70 mmHg. What’s the most appropriate next step?
A. ECG
B. Pulmonary angiography
C. Ventilation-perfusion (V/Q) scans
D. CXR
E. ABG test
39. A 70 y/o female just had a big hip surgery. On the 6th postoperative day she develops a tense, distended abdomen with occasional
bowel sounds and no tenderness. X-rays show a distended colon, with a few distended loops of small bowel. What’s the most
appropriate next step?
A. Nothing by mouth (NPO)
B. GI-dynamic drug
C. Colonoscopy
D. Colostomy
E. Cecostomy
40. A 65 y/o female is very weak with acute cholecystitis not responding to medical Tx. She has a history of myocardial infarction (MI)
suffered about 5 mo ago and currently has an irregular pulse and JVD. Her BP is normal. What’s the most appropriate next step?
A. Fast cholecystectomy
B. Percutaneous radiologic tube cholecystectomy
C. Supportive Tx and observation
D. CVS support and delaying cholecystectomy
E. Add new antibiotics
41. A 60 y/o man had a difficult abdominal surgery 10 days ago. Now he begins to leak 1-1.5 L of green fluid per day through the
subcostal abdominal wound. He has stable vital signs. What’s the most important next management?
A. Total parenteral nutrition (TPN)
B. Surgical exploration
C. Adequate normal fluid and nutrition supply
D. Antibiotics
E. Abdominal ultrasound
42. A 70y/o man presents with confusion and short of breath on the 5th day after a colon resection. P/E results: T = 38.5oC, HR =
90/min, RR = 28/min, BP = 100/70 mmHg; orientation to time and space is unclear; chest and abdominal signs are unremarkable. All
the following steps of management are necessary EXCEPT
A. ABG test
B. ECG
C. blood cultures
D. CXR
E. urine culture
F. abdominal CT
43-45: Match the following clinical scenarios with the most likely diagnosis.
A. Medial meniscus tear
B. Anterior cruciate ligament (Lig) injury
C. Posterior cruciate ligament injury
D. Chondromalacia patella
E. Osteochondritis dissecans
F. Osgood-Schlatter disease
G. Medial collateral ligament injury
H. Lateral collateral ligament injury
43. A soccer athlete had an acute twisting injury on the right knee 4 hours ago. P/E shows instability, edema, hematoma, tenderness,
and locking of the right knee.
44. A 13 y/o boy complains of localized right tibial pain for a month, worsened with activities and relieved with rest. He is a soccer
lover and almost plays it every day. P/E finds a normal right knee but mildly swollen frontal tibial area with tenderness. X-ray shows a
normal image.
45. A 16 y/o boy has progressive anterior knee pain for the past 2 months, which is worsened by activities and relieved moderately with
rest. P/E finds swelling and tenderness on the medial patella with crepitating sensation.
46. An 8 y/o girl falls in a fast running with her right arm touching the ground. She feels great pain and difficulties in moving her right
arm, and is brought to the ER 4 hours later. P/E shows no open cut or bleeding, but marked swelling and tenderness around the right
elbow, decreased radial pulse, and difficulties in moving the forearm and wrist. X-ray confirms the fracture. The most likely specific
injury is
A. radial nerve
B. ulnar nerve
C. axillary artery
D. brachial artery
E. medial nerve
47--53: Match the most likely orthopedic injury with the following clinical scenarios.
A. Posterior shoulder dislocation
B. Anterior shoulder dislocation
C. Posterior hip dislocation
D. Scaphoid fracture
E. Boxer’s fracture
F. Colles fracture
G. Middle-shaft humerus fracture
H. Proximal humerus fracture
I. Supracondylar fracture
J. Monteggia fracture
K. Galeazzi fracture
L. Intertrochanteric hip fracture
M. Ankle fracture
N. Achilles tendon rupture
O. Femoral neck fracture
47. A 17 y/o boy is brought to the ER with a painful right arm after a serious fight with a gang of teenagers involving repeated pushing
and dragging of the right arm. P/E finds stable vital signs, tenderness on the right shoulder, and the right arm turned outward on anterior
chest. X-ray confirms the diagnosis.
48. A 17 y/o boy is brought to the ER with a painful right hand after a serious fight with a gang of teenagers involving repeated hand-
hits. P/E finds stable vital signs and tenderness in the anatomical snuff box of the right hand. Local X-ray result is normal.
49. A 70 y/o female is brought to the ER with a painful right hand after a fall on an outstretched hand. P/E finds stable vital signs, a
deformed right wrist, and dorsally angulated right hand with tenderness. Local X-ray confirms a displaced fracture.
50. A 17 y/o boy is brought to the ER with a painful right arm after a serious car accident involving the right arm trauma. P/E finds
stable vital signs, deformation and tenderness on the right arm, and wrist drop and decreased thumb abduction. X-ray confirms the
fracture.
51. A 17 y/o boy is brought to the ER with a painful swollen right forearm and hand after a hit by a heavy blunt object. P/E finds stable
vital signs, swelling and tenderness on the right forearm and wrist. X-ray confirms dislocation of the radial head along with diaphyseal
fracture of the ulna.
52. A 70 y/o female is brought to the ER with tachypnea, tachycardia, and chest pain. 10 days ago she fell at home with the right hip
touching the ground first. She stayed home by herself since the fall. P/E finds tachypnea, dyspnea, tachycardia, and a shortened and
externally rotated right leg. ABG reveals decreased PO2 and PCO2. CXR is normal and bone X-ray confirms a dislocation and fracture
in the hip.
53. An athlete is in a strenuous jump when he feels a severe pain on the right ankle. He cannot move his right ankle or stand with his
right foot. P/E finds limited plantar flexion and positive Thompson’s test (no foot plantar flexion after pressure on the gastrocnemius).
X-ray is scheduled immediately.
54--57: Match the following orthopedic injuries and disorders in children with the most likely Dx.
A. Radial head subluxation
B. Clavicular fracture
C. Greenstick fracture
D. Torus fracture
E. Salter-Harris fracture
F. Supracondylar humerus fracture
G. Developmental hip dislocation/dysplasia
H. Legg-Calve-Perthes disease
I. Slipped capital femoral epiphysis
54. A 10 y/o boy is brought to the ER 2 hours after a fight with another boy involving repeated hits on the right neck, chest, arm, and
elbow. He feels severe pain when moving his neck and right shoulder. P/E finds obvious swelling and tenderness between the neck and
the right shoulder but no deformity. X-ray film confirms the Dx.
55. A 10 y/o boy is brought to the ER 2 hours after a car accident involving a severe right forearm hit. He feels severe pain in the right
forearm and wrist at rest and moving. P/E finds obvious swelling, tenderness and deformity on the distal right forearm and wrist. X-ray
reveals buckling of the distal radius and ulna with continuous cortex.
56. A 2 y/o boy presents with a shorter left leg and painless limp. P/E finds limited left hip abduction and internal rotation. X-ray (two
views) reveals increased joint space and collapsed femoral head on the left side.
57. A 16 y/o obese boy presents with pain and limp with the left thigh and knee following a running competition 3 days ago. P/E finds
tenderness and limited internal rotation and abduction of the left hip, and decreased external rotation at the hip flexion. X-ray reveals
displaced femoral head posteriorly and medially.
58. A 17 y/o boy receives a hard blow on his right knee when playing football. He feels severe progressive pain in the right knee and
has difficulty standing or walking. The physician advised daily use of an icepack as the initial treatment. After 5-6 days, the pain and
swelling remain the same. Then the doctor orders an MRI scan of the knee, which shows a torn ACL. The best next step is
A. NSAIDs
B. arthroscopic repair
C. rehabilitation
D. surgery to replace the knee
E. joint fluid analysis
59. A 40y/o man takes a nap with his head on his arms. When he wakes up, he feels a severe pain in the index finger and finds it flexed
while other fingers are extended. When he pulls the index finger free, he hears a “pop” sound with a sharp pain. What’s the best next
step of management?
A. Reassurance
B. Rehabilitation
C. NSAIDs
D. Steroid injection
E. Surgical repair
60. A 15 y/o boy ingests an unknown substance for suicide and survives after emergent treatment. 2-days later, his lab results show that
Ca = 7.5 mg/dL, BUN and creatinine are increased, BUN:creatinine ratio = 15: 1, and urinalysis is abnormal. The most likely substance
taken by the boy is
A. acetaminophen
B. aspirin
C. opiates
D. insecticides
E. ethylene glycol
This group of disorders involves problems in the self-control of emotions and behaviors, in which individuals are
unable to resist an impulse. Different from other emotional and/or behavioral disorders, this group is unique in that
these problems are manifested in behaviors that violate the rights of others (e.g., aggression, destruction) and/or
that bring the individual into significant conflict with societal norms or authority figures. The underlying causes are
various and mechanisms are poorly understood but mostly associated with the serotonin system and anxiety state.
Oppositional Defiant Disorder (ODD)
Definition and features: Persistent pattern of negativistic, defiant, and hostile behaviors toward adults and
authorities, including arguments, temper outbursts, deliberate annoyance, and vindictiveness. It’s considered an
initial, milder form of conduct disorder. Prevalence is 10% in school-age children, more common in boys before
puberty and about equal after puberty. ODD coexists with ADHD in approximately 50-80% of cases.
Etiology
Associated causes may include family conflict, poor parenting, learning disorder, school failure, low self-esteem,
mood lability, ADHD, drug abuse, and over-activity.
Treatment
Cognitive-behavioral modification is the effective therapy. It’s important to advise parents to spend time
interacting with a child, to care and reward desired behavior and not simply punish undesired behavior, and to be
consistent in parents’ words and deeds. Without special care in time, it will develop into conduct disorder. Co-
therapy for ADHD may be needed in many cases.
Conduct Disorder
Definition and features: Conduct disorder refers to a repetitive and persistent violation in four areas
(aggression, property destruction, deceitfulness/theft, and rules) lasting over 6 months in a child younger
than 18 y/a. These behaviors are often referred to as “antisocial behaviors” and often seen as the precursor to
antisocial personality disorder. It is the No.1 reason for a child or adolescent to be sent to a psychiatrist. It
affects 10% of school children; male:female = 9:1. Symptoms usually gradually remit.
Etiology
It may include genetic factors, family stress, school environment, ADHD, mood disorder, and substance abuse
(especially alcohol).
Essentials of diagnosis
1. The main manifestations are repetitive aggression, fighting, cruelty, property destruction, cheating, theft,
robbery, and school truancy lasting over 6 months in a patient younger than 18 y/a.
2. The major outcome or progress is “antisocial personality disorder” diagnosed when the individual with
conduct disorder is over 18 y/a.
3. The major differential diagnosis is oppositional defiant disorder.
Treatment
1. Cognitive-behavioral modification is the main, effective therapy. It’s very important to build up healthy
group identity and role models. Punishment/incarceration is often ineffective.
2. Medications: Risperidone or quetiapine can be the initial option but usually not used until the phase of antisocial
personality disorder. Lithium can be used for aggressive behavior, carbamazepine for aggression with emotional
lability, and haloperidol for rage and impulsion.
PEARLS—Table 16-1: Major Indications and Adverse Effects (S/E) of Mood Stabilizers
Valproic acid
Indications: Acute mania and bipolar I disorder (first-line); convulsion. S/E: GI toxicity, tremor, sedation, alopecia, and weight
gain; rarely, pancreatitis, hepatotoxicity, thrombocytopenia, agranulocytosis.
Lithium
Indications: Acute mania (first-line and maintenance therapy); bipolar disorder (prophylaxis). S/E: Thirst, polyuria, diabetes
insipidus, hypothyroidism, GI, teratogenicity, tremor, ataxia, delirium, seizure. Avoid use if renal function is impaired.
Carbamazepine
Indications: 2nd-line for bipolar disorder; convulsion; peripheral neuralgia. S/E: Skin rash, cardiac A-V block, leukopenia; rarely,
aplastic anemia or Stevens-Johnson syndrome.
Lamotrigine
Indications: 2nd-line for bipolar disorder; convulsion; peripheral neuralgia. S/E: Blurred vision, GI, Stevens-Johnson syndrome.
Cyclothymic Disorder
Definition and diagnosis: It’s a chronic disorder characterized by many periods of depressed mood and
hypomanic mood for more than 2 years. It’s considered a milder form of bipolar II disorder.
Risk factors: More frequent in females and in association with bipolar disorder, borderline personality disorder,
substance abuse, and marriage problems.
Treatment
1. Antimanic drugs (lithium, valproic acid, or carbamazepine) are usually the drugs of choice.
2. Psychotherapy can help patient gain insight into their illness and how to cope with it.
Differential diagnosis
Substance abuse; bipolar disorder; personality disorder.
NEUROTIC, STRESS-RELATED AND SOMATOFORM DISORDERS
ANXIETY DISORDERS
It’s a group of psychological and physiological disorders characterized by excessive worries, hypervigilance,
fears, restlessness, difficulty concentrating, and sleep disturbance; may be accompanied with autonomic
hyperactivity and motor tension. Anxiety disorders cover several different forms of abnormal and pathological fear
and anxiety, including generalized anxiety, phobic, panic disorders, Obsessive-compulsive disorder (OCD), acute
stress disorder, and post-traumatic stress disorder (PTSD). Each of them has its own characteristics and symptoms
and requires different treatment.
Etiology
1. Psychodynamic theory: Anxiety occurs when instinctual drives are thwarted.
2. Behavioral theory: Anxiety is a conditioned response to environmental stimuli originally paired with a feared
situation.
3. Biologic theory: Various neurotransmitters (especially GABA, NE, and 5-HT) and various CNS structures
(especially reticular activating system and limbic system) may be involved.
Generalized Anxiety Disorder
It’s defined as excessive, poorly controlled anxiety about events or activities in life that causes significant
impairment or distress for > 6 months; usually with both psychological and somatic symptoms (fatigue,
restlessness, irritability, insomnia, muscle tension, etc.).
Risk factors
There may be a genetic predisposition for an anxiety trait. Prevalence is male:female = 1:2. Associated disorders
include depression, somatic symptoms, and substance abuse.
Treatment
1. Cognitive-behavioral therapies (CBT, such as relaxation training and biofeedback) combined with SSRI
antidepressants are effective.
2. Medications (SSRIs—paroxetine, venlafaxine; buspirone) are commonly used with good effects.
Benzodiazepines (BZD) are used for immediate relief of acute symptoms but long-term use should be avoided for
risk of dependence. Other adverse effects: sedation, confusion, memory deficits, and respiratory depression.
Benzodiazepines (BZD) include: diazepam, lorazepam (IV use for emergencies), clonazepam (longer half-life,
less addiction risk), alprazolam (more use in panic disorder), oxazepam and chlordiazepoxide (more use in alcohol
withdrawal), temazepam, flurazepam.
Flumazenil: a benzodiazepine antagonist that is used only in acute BZD overdose and not in chronic dependence
(may cause tremor or seizures similar to delirium tremens).
Panic Attack and Panic Disorder
Panic disorder is recurrent, unexpected panic attacks--intense anxiety accompanied with marked physical
symptoms such as tachycardia, hyperventilation, dizziness, and sweating. Panic attacks usually last for a few min.
The disorder is associated with agoraphobia, depression, generalized anxiety, and substance abuse. The prevalence
is male:female = 1:2.
Risk factors
Possibly include genetic factors, separations during childhood and interpersonal loss in adulthood. Most patients
have panic symptoms in response to “panicogens” (lactate, CO2, yohimbine).
Treatment
1. First-line drug: Paroxetine, fluoxetine, alprazolam. Clonazepam (BZD) is only used for immediate symptomatic
relief.
2. Cognitive-behavioral therapies (CBT): Relaxation training for panic attacks and systematic desensitization for
agoraphobic symptom are both effective.
Phobic (Anxiety) Disorder
It’s defined as irrational fear and avoidance of objects and situations. Subtypes include:
1. Agoraphobia: Fear or avoidance of places from which escape would be difficult in the event of panic conditions
(public places, crowds, outside alone, etc.). It occurs more in females and often leads to severe restrictions on the
individual’s travel and daily routine.
2. Social phobia: Fear of humiliation or embarrassment in either general or specific social situations (e.g., at public
speaking, “stage fright”).
3. Specific phobia: Fear or avoidance of objects or situations other than agoraphobia or social phobia, such as
animals or insects, natural environments (e.g., storms), injury (e.g., injections, blood), and situations (e.g., heights,
darkness).
Treatment
1. CBT: Very effective for phobia, combined with systematic desensitization and assertiveness training.
2. Pharmacotherapy: A benzodiazepine (lorazepam) or SSRI (sertraline) is effective on social phobias, and a beta-
R blocker is effective on performance anxiety (“stage fright”).
Separation Anxiety Disorder (SAD)
Definition and diagnosis: It is an anxiety disorder among children in which the child experiences excessive
anxiety, fear and distress regarding separation from home or from people to whom the individual has a strong
emotional attachment (e.g. a parent). Major presentations include inappropriate anxiety, clinging to the parent,
crying, throwing tantrums, fear of harm, and difficulties sleeping. SAD can also cause significant negative effects
within a child’s everyday life. Symptoms must persist for at least four weeks and must be present before a child is
18 years of age to be diagnosed. Etiology is unknown.
Treatment
Behavioral, cognitive and individual psychotherapies are helpful. When these are failed in extreme cases, SSRIs
(sertraline, etc.) can be used.
Selective Mutism (SM)
Definition and diagnosis: SM is an anxiety disorder in which a person who is normally capable of speech
consistently fails to speak in specific social situations or to specific people, mostly in children. Children with SM
stay silent even when the consequences of their silence include shame, social ostracism, or even punishment.
Symptoms must persist for at least 1 month to be diagnosed. SM usually co-exists with shyness or social anxiety.
Etiology is unknown.
Treatment
CBT, self-modelling, mystery motivators, stimulus fading, desensitization, shaping, spacing and antidepressive
(SSRIs) may be helpful. SM does not necessarily improve with age. Treat early to avoid chronic depression.
Mixed Anxiety and Depressive Disorder
This category should be used when symptoms of anxiety and depression are both present, but neither is clearly
predominant, and neither type of symptom is present to the extent that justifies a diagnosis if considered separately.
When both anxiety and depressive symptoms are present and severe enough to justify individual diagnoses, both
diagnoses should be recorded and this category should not be used.
OBSESSIVE-COMPULSIVE AND RELATED DISORDERS
Obsessive-Compulsive Disorder (OCD)
OCD is characterized by recurrent obsessions or/and compulsions that are recognized by the individual as
unreasonable, affecting the individual’s level of functioning. Obsessions are persistent, unwanted, intrusive, and
anxiety-provoking thoughts or impulses, commonly concerning contamination, doubt, guilt, aggression, and sex.
Compulsions are peculiar behaviors to reduce anxiety, commonly hand-washing, checking, and counting.
Etiology
It may be associated with 5-HT metabolism, genetics, depression, and other psychiatric disorders. Onset is
insidious during childhood or early adulthood.
Diagnosis
OCD is diagnosed by recurrent, unreasonable obsessions or/and compulsions, occurring more frequently among
young people, with similar incidence in male and female. It may coexist with Tourette disorder.
Treatment
1. CBT: Exposure and desensitisation relaxation training, response prevention, thought-stopping techniques, and
modelling. Patient education and counselling are highly important.
2. Medications: A SSRI (paroxetine, fluoxetine, sertraline, or fluvoxamine) is the first-line medicine. Higher doses
of SSRIs or clomipramine are more effective for OCD.
Definition: These are disorders of personality patterns that are pervasive, inflexible, and maladaptive
causing impaired social-behavioral functions. They are a group of common psychiatric disorders that lack proper
care.
PEARLS: General features of personality disorders:
(1) They can be classified into three clusters (“3 Ws”: A—Weird, B—Wild, C—Worried); (2) Long history dating
back to childhood; (3) Recurrent maladaptive behavior and major difficulties with interpersonal relationships or
society; (4) Low self-esteem and lack of confidence; (5) Minimal introspective ability with a tendency to blame
others for all problems; (6) Depression with anxiety when maladaptive behavior fails.
Etiology: Unknown. It may be associated with genetic factors, “original family”, and childhood experiences.
Prevalence: More males have antisocial and narcissistic personality disorders, and more females have borderline
and histrionic personality disorders.
Onset: Late adolescence or early adulthood.
Course: It’s usually chronic over decades and very difficult to treat because the patient is not willing to seek
treatment. Mostly symptoms of paranoid, schizoid, and narcissistic personality disorder worsen with age, whereas
symptoms of antisocial and borderline personality disorder usually ameliorate.
Principles of treatment: Psychotherapy is the mainstay of therapies, mostly long-term, intensive psychodynamic
and cognitive therapy.
Specific Types and Clinical Features
I. Cluster A Personality Disorders — “Weird”
The so-called odd-eccentric cluster, is composed of schizoid, schizotypal, and paranoid personality disorders. This
cluster is mainly characterized by peculiar thought processes and inappropriate affect.
Schizoid personality disorder
Socially isolated “loners” with restricted and distant emotions and friendship; lack of desire for intimate human
connection; disinterested in others and indifferent to joy, praise, or criticism. Patients who have more awareness of
their interpersonal needs are more likely to form a therapeutic relationship.
Schizotypal personality disorder
Odd thought, behavior, appearance, and perceptions; socially isolated and uncomfortable with others. It’s
differentiated from schizoid personality disorder by magical or weird thinking and affect, ideas of reference and
persecution, and brief psychotic episodes. Patients may be wishing for a close, special or romantic relationship
with therapists while simultaneously feeling aggressive or negative toward them.
Paranoid personality disorder
Pervasively distrustful/mistrustful, suspicious, taking other’s motivation as malevolent, socially isolated, and
emotionally cold. Individuals are irrationally alert for threats that others do not see. They also frequently defend an
extremely fragile self-concept. Challenges to build up a therapeutic relationship are pronounced due to
“confrontation”.
Clinical strategy for Cluster A
Cluster A patients are suspicious and distrustful of physicians and rarely seek treatment unless dealing with acute
problems such as substance use. Even they seek treatment they usually have great difficulty establishing a
therapeutic relationship. Therapists should be clear, honest, non-controlling and non-defensive. Maintain emotional
distance and avoid humor.
II. Cluster B Personality Disorders — “Wild”
Mainly characterized by mood lability, dissociative symptoms, and preoccupation with rejection.
Histrionic personality disorder
Colorful, exaggerated behavior, emotions and appearance to draw attention; extremely self-centered; theatrical
and sexually seductive. It’s mostly seen in female.
Management: Psychotherapy is the main treatment. Attention-seeking attributes can be helpful in establishing a
preliminary therapeutic relationship. However, the clinician must be prepared to manage dramatic acting-out.
Borderline personality disorder
Unstable affect, mood, relationships, and self-image; chronic feelings of emptiness, impulsivity, recurrent
suicidal behaviors, and inappropriate anger. Psychotic symptoms may be present with stress. The main defense
mechanism is splitting.
Management: Psychotherapy is the main treatment. Patients and families need education about the disorder. For
patients who experience symptoms of emotional dysregulation (lability, inappropriate anger, and dysphoria),
impulsivity and aggression, or cognitive-perceptual problems despite evidence-based psychotherapy, additional
pharmacotherapy—an antipsychotic, mood stabilizer, or antidepressant—is suggested.
Antisocial Personality Disorder (ASPD)
Definition and diagnosis: A pervasive personality pattern of disregard for, or violation of, the rights of
others; with continuous antisocial or criminal acts, inability to conform to social rules, marked impulsivity,
violation of the rights of others, deceitfulness, and lack of remorse. There may be a history of crime, legal
problems, and impulsive and aggressive behavior. It usually starts around 15 y/a as conduct disorder and is
diagnosed after the age 18.
Etiology: It may include hormones and neurotransmitters (high testosterone, low 5-HT), limbic neural
maldevelopment, head trauma, cultural influences, and environment.
Management: ASPD is considered to be among the most difficult personality disorders to treat. Because of their
very low or absent capacity for remorse, patients usually lack sufficient motivation and fail to see the costs
associated with antisocial acts. Therapeutic techniques should be focused on rational and utilitarian arguments
against repeating past mistakes. (1) For children, early intervention with group parent training may help prevent
antisocial personality in adolescence. (2) Cognitive-behavioral therapy is for persons with mild disorder who
possess some insight and reason to improve. (3) For patients with ASPD and severe aggression who are willing to
take medication, a second-generation antipsychotic (risperidone or quetiapine) is indicated.
Narcissistic personality disorder
Sense of self-importance, grandiosity, and entitlement; in need of admiration and lack of empathy; jealousy and
improper rage with criticism. It occurs mostly in low-educated patients.
Management: Patients pose significant challenges in establishing a therapeutic relationship. The clinician may
have to tolerate a lengthy period of time of vulnerability and self-protection before trust develops.
Clinical strategy for Cluster B
Cluster B patients are associated with testing and pushing the limits of the treatment relationship. They are
manipulative and demanding (attention), and tends to change the rules. Clinicians should be firm (stick to the
treatment plan), fair (not punitive or derogatory), and consistent in rules and boundaries in a quest to build a
relationship.
III. Cluster C Personality Disorders — “Worried”
Mainly characterized by anxiety and preoccupation with criticism or rigidity.
Avoidant personality disorder
Patients are socially inhibited, feeling inadequate or inferior, shy and lonely, hypersensitive to criticism,
preoccupied with rejection, and unwilling to get involved with people. Some patients may be similar to
vulnerable narcissists and/or social anxiety disorder. It is important to understand underlying self, interpersonal and
emotional schemas to optimize treatment alliance.
Dependent personality disorder
Submissive and clinging, feeling inadequate and helpless; avoiding responsibility and making decisions; always
in need of care.
Management: Psychotherapy is the main treatment. The clinician must be alert to the potential for the patient to
withdraw emotionally and psychologically. Additional challenges may occur when the clinician attempts to
encourage more independence.
Obsessive-compulsive personality disorder (OCPD)
Preoccupied with details, orderliness, perfectionism, and control; often consumed by the details of everything
and lose the efficiency (goals); inflexible morals and values. It is different from obsessive compulsive disorder
(OCD), an anxiety disorder. OCD is manifested by the patient’s experience of obsessive thoughts and compulsive
behaviors. There is only modest co-occurrence between OCPD and OCD. Both disorders are mainly treated with
cognitive-behavioral therapy (CBT). OCD may also need SSRIs.
Passive-aggressive (negativistic) personality disorder
This diagnosis was initially included in Cluster C, but shifted to disorders in need of further study in DSM-IV, and
deleted altogether in DSM-5.
Clinical strategy for Cluster C
Patients are worried but controlling, and their words may be inconsistent with actions. These may ruin the
treatment. Therapists should give clear recommendations, but not force the patient into decision. Be caring,
sympathetic, and patient. Building a therapeutic relationship with patients with Cluster C disorders is facilitated
because these patients are willing to take responsibility for their problems and more readily engage in a dialogue
with the clinician to try to solve them in comparison to patients with more severe Cluster A or B disorders.
SCHIZOPHRENIA SPECTRUM AND OTHER PSYCHOTIC DISORDERS
Schizophrenia
Definition: It is a mental disorder characterized by a disintegration of the process of thinking and of emotional
responsiveness, which impairs judgment, behavior, and ability to interpret reality. It most commonly manifests as
auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, accompanied by
significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a
global lifetime prevalence of around 1.5%. Symptoms must be present for more than 6 months to make the
diagnosis. The incidence is higher in males and the onset is earlier in males (male: 20’s y/a, female: 30’s y/a).
Suicidal rate is about 10%.
Etiology and risk factors
1. Unknown; associated with high levels of dopamine (DA) and abnormal 5-HT in the brain.
2. Strong genetic trend or family history: General prevalence is 1%; monozygotic twin is 47%; dizygotic twin, first-
degree relative, and one schizophrenic parent are all about 12%; patient with two schizophrenic parents has 40% of
prevalence.
3. Environment: More prevalent in patients with low social-economic status (SES), a conflicting environment, and
a birth season in the winter and early spring (may include viral infection). If family members are critical, intrusive,
and hostile to the patient, the relapse rate is high. If family members are supportive, understanding, and loving, the
relapse rate is low.
Essentials of diagnosis
1. More than two of the following characteristic psychotic symptoms affecting social or occupational
functions for at least 6 months:
(1) Positive symptoms: Delusions (mostly bizarre), hallucinations (mostly auditory), disorganized speech, and
disorganized or catatonic behaviour.
(2) Negative symptoms: Flat affect, poverty of speech, decreased emotional reactivity, and anhedonia.
2. P/E: Usually normal, but may show saccadic eye movements, hypervigilance, etc.
3. Brain imaging: CT and MRI usually reveal lateral and third ventricular enlargement, reduction in cortical
volume (associated with negative symptoms and neuro-psychiatric impairment).
PET: May show hypoactivity of the frontal lobes and hyperactivity of the basal ganglia relative to the cerebral
cortex.
4. Psychological Tests:
(1) IQ tests—lower on all IQ tests.
(2) Neuropsychological tests: Usually are consistent with bilateral frontal and temporal lobe dysfunction (deficits in
attention, retention time, and problem-solving ability).
(3) Personality tests: May show bizarre ideations, etc.
Differentiation
Catatonia:
Catatonia is a state of neurogenic motor immobility and behavioral abnormality manifested by stupor. It is not a
separate disorder, but is associated with psychiatric conditions such as schizophrenia (catatonic type), bipolar
disorder, post-traumatic stress disorder, depression and other mental disorders, as well as drug abuse or overdose
(or both). It may also be seen in many medical disorders including CNS infections, autoimmune disorders, focal
neurologic lesions, metabolic disturbances, and alcohol or benzodiazepines (BZD) withdrawal. Treatment: BZD is
the first-line option. Electro-convulsive therapy is sometimes effective. NMDA antagonists can be tried for BZD
resistant catatonia.
Treatment
1. Hospitalization is recommended to make patient safe and stabilized. Supportive psychotherapy mainly aims at
building up a relationship of mutual trust and understanding between the patient and physician.
2. Antipsychotic drugs: They are first-line treatment for schizophrenia. Specific selection of medicine is based
on patient’s situations.
(1) Typical antipsychotics: Blocking DA-R (D2, D4 subtypes). Indicated for psychotic disorders, acute agitation
or mania, and Tourette syndrome.
High-potency: Haloperidol, droperidol, fluphenazine, and thiothixene.
Adverse effects of typical antipsychotics:
(a) More extrapyramidal symptoms (EPS): acute dystonia or dyskinesias (pseudo-parkinsonism, tremor, and
rigidity)—treated with bentropine, amantadine or diphenhydramine; akathisia—treated with propranolol or BZD.
(b) Tardive dyskinesia (lip smacking, etc.)—It’s treated by changing to clozapine or risperidone, no
anticholinergics.
(c) Neuroleptic malignant syndrome: fever, rigidity, and autonomic instability (instable HR, BP and conscious
status). Treatment: Stop neuroleptic; give dantrolene or bromocriptine along with IV fluid.
(d) Hyperprolactinemia: amenorrhea, gynecomastia, and galactorrhea. Treatment depends on specific cases.
Low-potency: Thioridazine (S/E: retinal pigmentation), chlorpromazine (with more anticholinergic S/E: dry
mouth, orthostatic hypotension, constipation, and urine-retention).
(2) Atypical antipsychotics: Blocking DA2-R and 5HT2-R. Cariprazine, clozapine and olanzapine are more
effective on negative symptoms; risperidone is effective on both positive and negative symptoms. Similar new
medicines include quetiapine, ziprasidone, aripiprazole. Except for clozapine and olanzapine, currently these
are the 1st-line medicines for schizophrenia, with fewer EPS and anticholinergic S/E.
Note: Clozapine is best reserved for patients who have no response to adequate therapies of typical and atypical
antipsychotics, and who have severe negative symptoms and tardive dyskinesia. It is never used as a first-line
therapy, as with olanzapine.
Adverse effects of atypical antipsychotics:
Clozapine—the main adverse effect is agranulocytosis and thus weekly CBC testing is necessary.
Olanzapine—higher incidence of diabetes and weight gain; avoid in diabetic and obese patients.
Risperidone—higher incidence of movement disorder; quetiapine has less.
Ziprasidone—higher incidence of prolonged QT interval; avoid in patients with conduction defects.
Specific sub-types of schizophrenia dropped by DSM-5
Paranoid, disorganized, catatonic, residual, and undifferentiated types.
ICD-10 defined two additional subtypes
Post-schizophrenic depression: A depressive episode arising in the aftermath of a schizophrenic illness where
some low-level schizophrenic symptoms may still be present.
Simple schizophrenia: Insidious and progressive development of prominent negative symptoms with no history of
psychotic episodes.
Other Psychotic Disorders
Schizophreniform Disorder
It’s defined as psychotic symptoms (hallucinations, delusions, disorganized speech or behaviour, affective or
negative symptoms, and impaired social function, etc) for more than one month but less than 6 months. Most
patients can return to their functional level at baseline after treatment. Be watchful that depressive suicide is a risk
factor after the psychotic symptoms resolve.
Treatment
1. Physician must first evaluate if it’s necessary to hospitalize the patient for safety purpose.
2. Antipsychotic medicine is indicated for a 3-6 month course. Individual psychotherapy may help the patient
assimilate the psychotic experience into real life.
Schizoaffective Disorder
It’s defined as complex symptoms of major depressive-manic episodes and schizophrenia (delusions or
hallucinations) for more than 2 weeks. The prognosis is better than that for schizophrenia, but worse than that for
affective disorder.
Treatment
1. Physician must first evaluate the necessity of the patient’s hospitalization for safety purpose. Multimodal,
integrated care for patients may be necessary.
2. An antidepressant with or without anticonvulsant is used first to control the mood symptoms. If it’s not effective,
an antipsychotic agent is used to control the symptoms.
(Persistent) Delusional Disorder
It’s defined as non-bizarre delusions more than one month and no impairment in level of functioning. Specific
features and types include erotomanic, jealous, grandiose, somatic, mixed, and unspecified. For example, the
patient may believe the government will collapse soon and the leader will be replaced by him/her, but the patient
still follows the law and goes to work.
Risk factors: More commonly in low SES, married, employed women.
Treatment
First-line treatment is antipsychotic medication rather than other clinical interventions. Because patients with this
disorder often reject psychiatric treatment, it is particularly important that medication be prescribed in the context
of a therapeutic relationship that includes support, education, encouragement of healthier pursuits, and
discouragement of damaging, delusion-inspired actions. Individual psychotherapy should be focusing on helping
the patient understand how the delusions are distressing and interfere with normal life.
Brief Psychotic Disorder
It’s defined as sudden onset of psychosis lasting for a few days to a month and returning to a normal premorbid
functional level in a month.
Risk factors: More common in the low SES and in those with pre-existing personality disorders or psychological
stressors.
Treatment
1. Physician must first evaluate the necessity of the patient’s hospitalization for safety purpose.
2. Antipsychotics (risperidone) can be used for short-term treatment of psychotic symptoms.
PEARLS: Differentiation of psychotic disorders by duration
Pay special attention to the duration of psychotic symptoms, which is key to the differentiation of brief psychotic
disorder (1 day—1 month), schizophreniform disorder (1 month—6 months), and schizophrenia (more than
6 months).
Schizotypal (Personality) disorder (STPD)
It’s a disorder characterized by eccentric behavior and anomalies of thinking and affect which resemble those
seen in schizophrenia, though no definite schizophrenic anomalies occur at any stage. The symptoms may include a
cold or inappropriate affect; anhedonia; odd behavior; social withdrawal tendency; paranoid or bizarre ideas not
amounting to true delusions; obsessive ruminations; thought and perceptual disturbances; occasional transient
psychotic episodes with intense illusions, auditory or other hallucinations, and delusion-like ideas, usually
occurring without external provocation. There is no definite onset, and evolution and course are usually those of a
personality disorder.
Treatment
STPD is among the most difficult psychotic and personality disorders to treat because patients usually consider
themselves to be simply eccentric, creative, or nonconformist, not “patients”. When patient’s social maladaptation
is significant, psychotherapy and antipsychotics should be used.
DISSOCIATIVE DISORDERS
Definition: Dissociation is the fragmentation or separation of aspects of consciousness, including memory,
identity, and perception. Some degree of conscious dissociation is normal, but if it’s too fragmented, it may be a
pathologic dissociative disorder that interferes with patient’s normal adaptive ability.
Dissociative Amnesia
It refers to significant episodes in which the individual is unable to recall general or important events, usually
during emotional or psychological stress. It’s more common in young women.
Treatment
1. First evaluate and exclude general medical conditions (head trauma, seizures, stroke, substance abuse, etc).
2. Psychotherapy may help resolve underlying emotional stress.
Differentiation
Fugue state (Dissociative fugue or psychogenic fugue):
Sudden, unexpected travel; unable to remember one’s past and confused about personal identity; usually following
a stressful life event, mood disorder, or substance abuse. Most episodes are isolated and with rapid resolution, but
amnesia may persist for months. Treatment: Same as for dissociative amnesia.
Dissociative Identity Disorder (Multiple Personality Disorder)
It’s defined as presence of multiple, distinct personalities that recurrently control the individual’s behavior, together
with personal identity confusion. Childhood sexual abuse is a strong risk factor. Usually it occurs in a female with
an occult onset, subtle clinical presentations, and delayed diagnosis for years.
Associated problems and differential diagnoses include chaotic interpersonal relationships, self-destructive
behaviors, impulsivity, major depression, suicide attempts, sexual disorder, eating disorder, substance abuse,
borderline personality disorder, PTSD, etc.
Treatment
Psychodynamic psychotherapy plus hypnosis is helpful in uncovering psychologically traumatic memories of
patients and to resolve the associated emotional conflicts.
Depersonalization or Derealization Disorder
It’s a condition of persistent or recurrent feeling of being detached from one’s mental processes or body,
accompanied by intact sense of reality. It may follow a stressful event, and show jamais vu (a sense of familiar
things being strange), deja vu (a sense of unfamiliar things being familiar), and other forms of perceptual distortion.
Treatment
Psychotherapy is helpful in decreasing anxiety. Naltrexone, an opioid antagonist, is helpful with pronounced
emotional numbing. Lamotrigine and transcranial magnetic stimulation have shown promising results. SSRIs,
benzodiazepines and antipsychotics are not very helpful.
Dissociative Stupor
It is a condition of a profound diminution or absence of voluntary movement and normal responsiveness to external
stimuli such as light, noise, and touch, but examination and investigation reveal no evidence of a physical cause. In
addition, there is positive evidence of psychogenic causation in the form of recent stressful events or problems.
Diagnosis is clinical.
Treatment
Treatment may include emergency “ABCs” (including 50% glucose + thiamine IV +/- phenytoin for seizures if
necessary), removal of patient from the stressful environment, individual psychotherapy (including hypnosis), and
atypical antipsychotics if necessary.
SOMATIC SYMPTOM AND RELATED DISORDERS
This is a group of disorders characterized by the presentation of physical symptoms without full medical
explanations, and the symptoms are severe enough to interfere with the patient’s social or occupational activities.
Primary gain: Keeps internal conflicts outside patient’s awareness.
Secondary gain: Benefits received from being “sick”.
La belle indifference: Patient seems unconcerned about impairment.
Identification: One models one’s behavior on someone who is important to him/her.
Somatic Symptom Disorder
Formerly known as a somatoform disorder, it is a mental disorder characterized by multiple physical symptoms
that affect multiple organs and systems without full medical explanations. They are suggestive of physical illness or
injury but not attributable to another mental disorder. It more often affects low-socioeconomic, unmarried females
in the 30’s.
Diagnosis
1. Many physical symptoms affecting multiple organs that cannot be explained fully by a general medical condition
or drug effects. Most cases include more than four pain, two GI, one sexual, and one neurological symptoms.
2. Patient usually has a long, complicated medical history and impaired psychosocial functions.
Treatment
Both psychotherapy and pharmacotherapy (antidepressants SSRIs) may be needed. Therapists should have
sympathy for the patient. Try to keep the same physician and make regular schedules for the patient. Individual
psychotherapy can help patient aware of the possible psychological nature of the symptoms and help with coping
skills.
Conversion Disorder (Functional Neurological Symptom Disorder)
It’s a disorder in which the individual experiences one or more neurologic deficits after a special event that cannot
be explained by any medical or neurologic diseases. It’s more common in young, low-socioeconomic and low-IQ
females, and military persons. Associated disorders include passive-aggressive, dependent, antisocial, and
histrionic personality disorders.
Diagnosis
Patient typically has 1-2 neurologic symptoms that affect voluntary motor or sensory functions (commonly
mutism, blindness, paralysis, or paresthesia) following psychological factors. Patient is usually unconcerned about
his/her impairment.
Treatment
Symptoms usually resolve spontaneously. Psychotherapy can help establish a caring relationship with the patient
and help relieve stress and deal with illness.
Factitious Disorder
Also known as factitious disorder imposed on self (Munchausen syndrome)”, it is a disorder characterized by
the conscious or deliberate production of false or exaggerating symptoms and signs of both medical and mental
disorders in order to assume the sick role for attention (rather than obvious external rewards). Typically,
patients have faked symptoms and signs and demand treatment in the hospital, and become angry when they are
confronted or rejected, or accuse the physician or nurse if the test result is negative (indicating faked sample). It’s
more frequent in male health workers. Pediatric patients may have a history of being abused and thus seek the sick
role.
If the manifestations are faked for another person (as in mother and child), it’s called “Factitious disorder by
proxy”.
Treatment
Psychotherapy is the standard treatment for alleviation. When the clinician suspects factitious disorder, be alert of
the therapist’s countertransference. If a “factitious disorder by proxy” is suspected, the child protective authority
should be contacted for the child’s protection.
Differentiation
Malingering:
It’s a condition characterized by the conscious fabricating symptoms and signs for an obvious secondary gain
(money, sick leave, etc.). Individual tends to complain many subjective, exaggerated symptoms and is concerned
more with rewards than with alleviation of symptoms. It’s more common in men in factories, jails, and the army.
Diagnosis is generally made when there is a discrepancy between the patient’s complaints and the actual results of
physical examination and lab tests. It is not considered a mental disorder. Treatment: Apply skilful physician-
patient relationship to therapies. If medical evaluation reveals malingering, skilfully confront the patient with the
results and try to save patient’s self-respect. If confronted harshly, the patient may become angry and tougher to
deal with.
Illness Anxiety Disorder (Hypochondriasis)
It refers to excessive preoccupancy or worry about having a serious illness despite constant reassurance by the
physician. The belief is not delusional but affects the individual’s level of functioning. Most onset ages are 20-30
years and duration > 6 months.
Treatment
Make frequent, regular schedules with the patient for psychotherapy—cognitive-behavioral therapy (CBT), to help
patient relieve stress and deal with illness. If it’s not effective, antidepressants such as SSRIs may be needed.
Undifferentiated Somatoform Disorder (by ICD-10 and DSM-IV)
When somatoform complaints are multiple, varying and persistent, but the complete and typical clinical picture of
somatization disorder is not fulfilled, it’s considered “Undifferentiated somatoform disorder”.
(Persistent Somatoform) Pain Disorder
It’s a condition of chronic pain experienced by a patient in one or more areas, and is thought to be caused by
psychological stress. It’s more common in middle-aged females.
Essentials of diagnosis
1. Symptoms more than signs: Pain exists in more than one anatomic site and causes distress to the patient. Usually
there is no faked pain or acts seeking secondary gain involved. Patient usually has stressful events, a long medical
history, many physicians, and poor effects with standard analgesic therapies.
2. Conditions such as dyspareunia, somatic symptoms disorder, conversion disorder, or mood disorders can
eliminate pain disorder as a diagnosis. Diagnosis depends on the ability of physicians to explain the symptoms and
on psychological influences.
Treatment
1. Individual psychotherapy helps explore the psychological origin and emotional content of the pain for
alleviation.
2. NSAIDs, antidepressants (SSRIs, TCAs), venlafaxine, biofeedback, and hypnosis may be helpful.
Mix: Chronic Fatigue Syndrome (CFS)
Also known as systemic exertion intolerance disease, CFS is a debilitating and complex disorder characterized by
profound fatigue for longer than 6 months that is not improved by bed rest and that may be worsened by
physical or mental activity. Most patients experience partial recovery and relapses within 2 years; female > male.
Clinical fatigue (generalized weakness, easy fatigability, and mental fatigue) should be distinguished from
somnolence, dyspnea, and muscle weakness. Chronic fatigue refers to symptoms lasting over six months but does
not imply the presence of chronic fatigue syndrome (CFS).
Etiology
Unknown. It may be associated with viral infections, immunologic, neurologic, or endocrine dysfunctions.
Essentials of diagnosis
1. Unexplained fatigue that is not alleviated by rest, is not due to exertion, and significantly affects quality of life.
Symptoms may affect several body systems and include weakness, muscle and joint pain (without
redness/swelling), impaired short-term memory and/or mental concentration, insomnia, headache, sore throat,
tender lymph nodes, depression, and reduced daily activities.
2. Lab tests: Usually normal and may be needed for exclusion diagnosis—CBC, LFTs, serum electrolytes, TSH,
HIV, etc. Diagnosis of CFS is made by exclusion.
Differential diagnosis (High-yield for the USMLE Step 2 CS!)
1. Psychiatric disorders: major depressive disorder (No.1 cause), anxiety disorder, somatisation, etc.
2. Endocrine disorders: hypothyroidism, poorly controlled diabetes, Addison disease, hypercalcemia
(hyperparathyroidism), hypopituitarism.
3. Metabolic disorders: chronic renal failure, hepatic failure.
4. Hematologic diseases: severe anemia, occult malignancy.
5. Cardiopulmonary diseases: CHF, obstructive sleep apnea.
6. Infectious diseases: viral hepatitis, endocarditis, myocarditis, mononucleosis, CMV infection, HIV infection,
TB, syphilis, parasitic disease, Lyme disease.
7. Medications: anti-hypertensive medicines (clonidine, methyldopa), beta-R blockers, hypnotics, antihistamines,
antidepressants (amitriptyline, doxepin, and trazodone with sedating effect), drug use or withdrawal.
Others: fibromyalgia, sleep disorders, etc.
Treatment
1. Treat known underlying cause and provide support and reassurance.
2. Cognitive behavioral therapy (exercise, behavioral modifications), antidepressants, or/and NSAIDs can be
helpful. CBT combined with graded exercise program has been effective in some patients with CFS and with
idiopathic chronic fatigue. The long-term prognosis may be better than the short-term.
SUBSTANCE-RELATED AND ADDICTIVE DISORDERS
Substance abuse: It refers to maladaptive pattern of substance use that leads to loss of control and increased use of
the substance. It includes tolerance, dependence and withdrawal, and is associated with serious medical, social, or
emotional consequences. Mostly it occurs among young adults and teenagers, by millions per year in the US.
Intoxication: It’s reversible experience with a substance that leads to harmful psychological or physiological
changes.
Withdrawal: It refers to cessation or reduction of a substance leading to either psychological or physiological
changes.
Dependence: It refers to maladaptive pattern of substance use that leads to tolerance. There is withdrawal
reaction(s) when the patient reduces doses. Patient spends most of his time obtaining and using drugs and
recovering from drug use. The drug abuse is continued despite adverse consequences.
Prevalence of substance use (abuse) by order
1. Alcohol; 2. smoking; 3. marijuana; 4. opioid; 5. cocaine; 6. others.
Etiology and risk factors
1. Family history of alcohol abuse, childhood physical or sexual abuse, poor parenting, exposure to drug use
through peers or drug dealers, and social isolation.
2. Psychiatric disorders: Depression, conduct disorder, ADHD, and low self-esteem.
3. Self-drug motivation: Patient may intend to use substance to alleviate some psychological symptoms (e.g.,
alcohol for depression).
Diagnostic guidelines
1. Maintain an extent of suspicion, be ready for denial from abusers, and try to obtain more history from close
family members or friends, including familial and social function. P/E should be focused on signs of drug use
(burns, needle marks, and skin infections/injury) and poor hygiene and nutrition.
2. Diagnostic lab tests:
For alcohol use (abuse): serum GGT, AST (SGOT), ALT (SGPT), and LDH levels.
For IV drug use (abuse): HIV, hepatitis B, hepatitis C, and TB testing.
Therapeutic guidelines
1. Preventive programs: Teach adolescents how to resist social pressures to use drugs and to enhance other social
and personal skills.
2. Detoxification: Substance-specific therapies, usually taking 5-10 days in hospital to assure safety.
3. Drug rehabilitation: Stop drug abuse and develop new coping skills that make relapse less likely, usually taking
one month or more. Self-help groups (e.g., Alcoholics Anonymous) have been the most effective treatment for
many adult substance abusers, both for rehabilitation and relapse prevention.
SUBSTANCE-RELATED DISORDERS
Alcohol Use Disorder
Alcohol use disorder in DSM-5 replaces alcohol abuse and alcohol dependence (alcoholism) in DSM-IV.
Alcohol use disorder refers to a pattern of drinking that results in social dysfunctions, physical, or legal
problems. It can be specified as mild, moderate, or severe. Alcohol dependence in DSM-IV is best represented by
moderate to severe alcohol use disorder in DSM-5; alcohol abuse is similar to the mild subtype of alcohol use
disorder. The prevalence is about 10% in adults. It’s the No.1 substance of abuse, male > female. More than
85,000 deaths a year in the US are directly attributed to alcohol use; the annual economic cost of alcohol use is
estimated to be over $185 billion. Excessive alcohol use is associated with increased risk of automobile accidents,
cirrhosis, pancreatitis, heart disease, major depressive disorder, and many other diseases, in addition to enormous
alcohol-related economic costs in.
Alcoholics Anonymous: The largest source of alcohol treatment in the US. It is believed to be the most
successful treatment by providing substitute dependency, social support, inspiration, hope, and aversive pressure
against alcohol drinking. Al-Anon is also for families and friends of alcoholics.
Screening test
CAGE-questionnaire—any two positive answers to the following four questions (or to the last question “d” alone)
are suggestive of alcohol use disorder.
a. Have you ever felt that you should cut down your drinking?
b. Have you ever felt annoyed by others’ criticism of your drinking?
c. Have you ever felt guilty about your drinking?
d. Have you ever had a morning drink (eye-opener) to feel easier?
Diagnostic criteria
(1) Recurrent drinking resulting in failure to fulfil role obligations; (2) Recurrent drinking in hazardous situations;
(3) Continued drinking despite alcohol-related social or interpersonal problems; (4) Evidence of tolerance; (5)
Evidence of alcohol withdrawal or use of alcohol for relief or avoidance of withdrawal; (6) Drinking in larger
amounts or over longer periods than intended; (7) Persistent desire or unsuccessful attempts to stop or reduce
drinking; (8) Great deal of time spent obtaining, using, or recovering from alcohol; (9) Important activities given up
or reduced because of drinking; (10) Continued drinking despite knowledge of physical or psychological problems
caused by alcohol; (11) Alcohol craving.
Disorder severity—The severity of alcohol use disorder at the time of diagnosis can be specified as a
subtype based on the number of symptoms present:
Mild: Two to three symptoms;
Moderate: Four to five symptoms;
Severe: Six or more symptoms.
Intoxication: Disinhibition, talkative, slurred speech, moody, ataxia, aggression, blackouts, hallucinations,
impaired memory and judgment, coma. Intoxication treatment: B1, folate, anti-seizure (carbamazepine); avoid
neuroleptics.
Withdrawal: Tremor, tachycardia, hypertension, agitation, seizure, delirium tremens (DTs). Treatment: Long-
acting benzodiazepines (chloradiazepam, lorazepam) for sedation (especially for DTs); diazepam for prevention of
seizure; beta-R blocker and clonidine for hypertension, etc.
Alcohol dependence and abuse (Alcoholism): (1) Physiologic dependence as manifested by evidence of
withdrawal when intake is interrupted. (2) Tolerance to the effects of alcohol. (3) Evidence of alcohol-associated
diseases. (4) Continued drinking despite strong medical and social contraindications and life disruptions. (5)
Impairment in social and occupational functioning. (6) Depression, blackouts, etc.
Complications: GI—gastritis, esophagitis, pancreatitis, alcoholic liver disease, Mallory-Weiss tears; CVD—
alcoholic cardiomyopathy, essential hypertension; CNS—Wernicke encephalopathy, Kosakoff psychosis;
pulmonary--pneumonia, aspiration; sexual function—impotence, loss of libido; psychiatric—depression, anxiety,
insomnia; nutritional—vitamin (B1, etc.) deficiencies and GI cancers.
Anti-abuse: Disulfiram can induce short of breath, flushing, tachycardia, headache, nausea/vomiting shortly after
alcohol intake. Naltrexone helps reduce the craving for alcohol.
Cannabis (Marijuana)
Cannabis is the most commonly used illegal psychoactive substance worldwide. Cannabis use disorder is a
persisting pattern of cannabis use that results in clinically significant functional impairment in two or more
fields within a year.
Typical manifestations of the disorder: Impairment in school or work function, giving up of previously enjoyed
social and recreational activities, and use of cannabis in potentially hazardous situations. Brief screening can be
started with the single question: “How often have you used marijuana in the past year?”
Intoxication: Euphoria, slowed sense of time, impaired judgement and motor coordination, social withdrawal,
increased appetite and sexual impulse, dry mouth, conjunctival congestions, hallucinations, anxiety, paranoia. Drug
testing for delta-9-tetrahydrocannabinol (THC) in urine only indicates cannabis use but not its recency.
There is no obvious withdrawal or dependence because cannabis withdrawal is usually mild and self-limited.
Treatment: First-line treatment for cannabis use disorder is cognitive-behavioral therapy (CBT) or/and
motivational enhancement treatment (MET). If it’s not effective, it is treated with addiction of counselling and
referral to a mutual help group (support) such as Marijuana Anonymous. Augmentation of psychosocial treatment
with N-acetylcysteine (young patients) or gabapentin (adult) may be a plus. Benzodiazepines are only used for
acute agitation and paranoid delusion.
Cocaine
Cocaine is among the most commonly used illicit recreational drugs worldwide. Cocaine use, even casually, may
be associated with acute or chronic cardiovascular toxicity. Acute coronary syndromes (ACS), aortic dissection and
rupture, arrhythmias, myocarditis, and vasculitis are potential toxicities related to cocaine ingestion.
Intoxication: Psychosis, agitation, euphoria, pupil dilation, tachycardia, hypertension, seizures, stroke, panic,
paranoia, hallucinations, violence, and sudden death.
Treatment: (1) Treat symptoms--benzodiazepines (diazepam) or dopamine receptor (R) blocker (bromocriptine or
haloperidol) for severe agitation; anti-hypertensive medicines. Beta-R blocker should be avoided for potential
worsening of ACS. (2) Treat cocaine-associated ACS as for ACS by most other causes--aspirin, nitroglycerin, diltiazem
or verapamil, early reperfusion, coronary angiography, and primary percutaneous coronary intervention (rather than
fibrinolysis).
Withdrawal: The symptoms are predominantly psychological--depression, anxiety, anhedonia, cocaine craving,
and increased sleep. Most symptoms are self-limited and resolve within one to two weeks without treatment.
Significant post-use “crash” includes hypersomnolence, depression, craving, angina, nightmare, and suicidality.
The severe craving may strongly contribute to compulsive use. Disulfiram (for alcohol use disorder) has shown
promise for cocaine use disorder.
Amphetamines
Intoxication: Psychomotor agitation, euphoria, pupil dilation, tachycardia, hypertension, impaired judgment,
prolonged wakefulness and attentiveness, hallucinations, and seizure.
Treatment: Diazepam or haloperidol for severe agitation; anti-hypertensive medicines, etc. Psychosocial
interventions have proven efficacy in reducing stimulant use in patients with stimulant use disorder, but these
treatments alone are insufficient for many patients. Antidepressants and Disulfiram may be helpful in some patients.
Withdrawal: Post-use “crash” (hypersomnolence, depression, lethargy, stomach cramp, nightmare).
Opioids
Intoxication: Euphoria then apathy, CNS and respiratory suppression (lethal), pupil constriction, constipation.
Treatment: Medication treatment is effective for opioid use disorder. Buprenorphine is preferred. Methadone may
have longer and better capacity but it has a higher risk of lethal overdose, and thus is a second-line medicine after
buprenorphine. If an opioid agonist is prohibited, naltrexone can effectively block opioid-R and reverse effects.
Withdrawal: Dysphoria, insomnia, anorexia, myalgia, fever, lacrimation, diaphoresis, dilated pupils, rhinorrhea,
piloerection, nausea, vomiting, stomach cramps, diarrhea, etc. Treatment: Short action: clonidine; long-term:
methadone or buprenorphine.
PCP (Phencyclidine)
Phencyclidine is a dissociative anesthetic that is abused primarily for its hallucinatory effects. Significant toxicity is
rare but potentially serious. The drug carries a rapid onset of action but a short duration.
Intoxication: Assaultiveness, belligerence, violence, psychosis, agitation, impulsiveness, impaired judgement,
nystagmus/ataxia, tachycardia, hypertension, hallucination, and delirium.
Treatment: Reassurance; diazepam or haloperidol for severe PCP-related psychomotor agitation.
LSD—Hallucinogen
Intoxication: Marked anxiety or depression, delusion, visual hallucinations, flashbacks, pupil dilation, impaired
judgement, diaphoresis, tachycardia, hypertension, heightened senses.
Treatment: Supportive counselling; diazepam or haloperidol for severe psychomotor agitation; antipsychotics or
anxiolytics.
Withdrawal: Recurrence of intoxication symptoms due to GI reabsorption. Sudden onset of severe violence may
occur.
Barbiturates
Barbiturate use can lead to both addiction and physical dependence, and as such they have a high potential
for abuse. The GABAA receptor, one of barbiturates’ main sites of action, is thought to play a pivotal role in the
development of tolerance to and dependence on barbiturates.
Intoxication: CNS inhibition and life-threatening respiratory depression. The physical dependence is treated by
stabilisation on the long-acting barbiturate phenobarbital followed by a gradual titration down of dose.
Withdrawal: Anxiety, seizures, delirium, lethal CVS and respiratory inhibition. Treatment: Short-acting
diazepams.
Benzodiazepines (BZDs)
BZD prescriptions and overdoses have been steadily increased in recent years.
Intoxication: Interactions with alcohol; slurred speech, incoordination, ataxia, amnesia, somnolence, nystagmus,
stupor or coma, diuresis, arrhythmia, and respiratory depression. The presence of depressive and anxiety disorders
may increase the risk of benzodiazepine use disorder in patients prescribed benzodiazepines.
Testing: BZDs are NOT detected in standard urine screening tests of drug abuse. The liquid chromatography-
tandem mass spectrometry can detect use of BZDs more accurately.
Withdrawal: Rebound anxiety, nausea or vomiting, seizure, tremor, insomnia, and hypertension. Treatment:
Short-acting diazepam.
Caffeine
Caffeine is the most consumed stimulant in the world. There is insufficient evidence for promoting or
discouraging coffee/tea use. Short-term benefits include increased mental alertness and certain cognitive
performance, etc. Long-term use is associated with beneficial effects of reduced risk of Parkinson disease,
Alzheimer disease, alcoholic cirrhosis, and gout, but also increased risks of caffeine use disorder and generalized
anxiety disorder.
Intoxication: Restlessness, insomnia, diuresis, muscle twitching, arrhythmia (tachycardia), agitation.
Withdrawal: headache, lethargy, depression, weight gain, irritability, and craving. Caffeine withdrawal is more
evident than dependence.
Nicotine
Cigarette smoking and chronic nicotine intoxication has been associated with increased risks of COPD,
CAD, stroke, peripheral vascular disease, multiple malignancies, etc., and is the leading preventable cause of
mortality.
Intoxication: Restlessness, insomnia, anxiety, arrhythmia.
Treatment: Smokers should be managed with a combination of behavioral support and medication therapy. First-
line medicines for smoking cessation include nicotine replacement therapy, varenicline, and bupropion.
Withdrawal: Irritability, headache, anxiety, weight gain, bradycardia, and distractibility.
NON-SUBSTANCE-RELATED DISORDERS
Gambling Disorder
Formerly known as “Pathological gambling in impulse control disorders”, it is a disorder characterized by
persistent and recurrent gambling behavior, including a preoccupation with gambling, a need to gamble with
more money, attempts to stop gambling or to win back losses, illegal acts to finance the gambling, or loss of normal
relationships due to gambling. Individuals usually appear overconfident, with histories of multiple arrests, suicide
attempts, alcohol abuse, loss of a loved one, poor parenting, mood disorder, etc. Prevalence is males > females.
Treatment
Gamblers Anonymous group or organization is the most effective treatment. It involves public confessions, peer
pressure, and sponsors.
FEEDING AND EATING DISORDERS
Anorexia Nervosa
It’s an eating disorder characterized by failure to maintain a normal eating habit and body weight, fear and
preoccupation with overweight. Patient has an unrealistic self-evaluation as overweight and disturbed body image,
and usually loses weight by maintaining strict caloric control, excessive exercise, purging, fasting, and abusing
laxative and diuretics. It mostly occurs in young females (F:M = 10:1). Average onset age is 17 years; the later the
onset, the worse the prognosis.
Etiology and risk factors
They may be associated some genetic factors, emotional conflicts with contraception and sexuality, and a cultural
emphasis on thinness.
Essentials of diagnosis (criteria)
1. Restriction of energy intake that leads to a low body weight (body mass index <18.5), given the patient’s age,
sex, developmental trajectory, and physical health.
2. Intense fear of gaining weight or becoming fat, or persistent behavior that prevents weight gain, despite being
underweight.
3. Distorted perception of body weight and shape, undue influence of weight and shape on self-worth, or denial of
the medical seriousness of one’s low body weight.
Patient typically restricts food intake and maintains diets of low-calorie foods to lose weight; it may be
accompanied with exercise and purging (self-induced vomiting or laxation); over-concerns with appearance and
overweight; has amenorrhea > 3 cycles; denies emaciated conditions; may have OCD or depression. Symptoms
are usually > 3 months.
There are two subtypes:
(1) Restricting type -- Marked by weight loss through dieting, fasting, and excessive exercise without recurrent
episodes of binge eating or purging.
(2) Binge eating and purging -- Marked by episodes of binge eating and purging.
P/E results: Body weight is > 15% below expected weight; emaciation, hypotension, bradycardia, lanugos (fine
hair on the trunk), and peripheral edema. Signs of purging: eroded dental enamel and scarred/scratched hands. Lab
tests may show electrolyte disturbances (Hypo-KCl alkalosis, metabolic acidosis, etc).
Treatment
1. First hospitalize the patient and correct metabolic imbalance to prevent dehydration, starvation, electronic
imbalances, and death.
2. Weight gain is the therapeutic target. It’s important to have psychotherapy and behavior therapy (with rewards or
punishments) based on weight, and family therapy to reduce conflicts with parents. Antidepressants (SSRIs) may
have some effects on promoting weight gain. Patient is usually not distressed by the disorder and may be resistant
to treatment.
3. Prognosis/outcome: The course is fluctuating; long-term mortality rate of hospitalized patients is 10%, resulting
from the effects of starvation (electrolyte disorders) and purging or suicide.
Bulimia Nervosa
It’s an eating disorder characterized by frequent binge-eating and purging and normal body weight, with the
self-image unduly influenced by shape and weight and lack of control of overeating episodes. It mostly occurs
among young females. It may be in chronic or intermittent course with high remittances.
Risk factors
Psychological conflicts (guilt, helplessness, etc.) and mood disorders. Worse prognosis is predicted if substance
abuse is co-existent.
Essentials of diagnosis
1. The most common symptoms are lethargy, irregular menses, abdominal pain and bloating, and constipation.
Typical behaviors include recurrent episodes of binge-eating associated with emotional stress and followed by
feelings of guilt, self-recrimination, and inappropriate compensatory behaviors of self-induced vomiting or
laxation, fasting, or excessive exercise to avoid weight gains.
2. Attempts to conceal binge-eating or purging, or lies about the behavior. It may be accompanied by symptoms of
depression, substance abuse, or personality disorder.
3. P/E results: Evidence of purging and/or laxative/diuretic abuse (on hands, teeth, etc.).
Differential diagnosis
Binge-eating disorder; anorexia nervosa; atypical depression; borderline personality disorder.
Treatment
Cognitive and behavioral therapy is the major treatment. It’s more effective if combined with psychodynamic
psychotherapy and antidepressants (SSRIs). Patient is usually distressed by the disorder, willing to be treated, and
thus easier to treat.
Binge-Eating Disorder (BED)
BED is an eating disorder characterized by binge eating without subsequent purging episodes.
Essentials of diagnosis
1. Each binge consists of eating an amount of food much larger than most people would eat in a similar period of
time under similar circumstances, and is accompanied by a feeling of discomfort, nausea/vomiting, and loss of
control. It occurs at least once a week for 3 months.
2. The binge eating is not associated with the recurrent use of appropriate compensatory behavior and does not
occur exclusively during the course of “Bulimia Nervosa or Anorexia Nervosa”.
3. The person is seriously worried about the binge eating, feeling disgusted, depressed, or guilty after binge eating.
These conditions may be associated with obesity, which is present with 2/3 of people with BED, although most
people with obesity don’t have BED.
Treatment
Strategies are similar to those for bulimia nervosa. Effects are usually good because patient is willing to be treated.
Pica (Disorder)
Pica is characterized by an appetite for substances largely non-nutritive, such as ice, clay, chalk, dirt, or sand.
To be diagnosed as a disorder, it must persist for more than 1 month at an age where eating such objects is
considered developmentally inappropriate, not part of culturally sanctioned practice and sufficiently severe to
warrant clinical attention. The consumption of ice is common and harmful as there is a high risk of tooth cracking,
enamel deterioration, jaw joint strain, and GI lesion. Anemia and lead and zinc poisoning are common
complications. Pica is more commonly seen in women and children.
Treatment
It may vary by patient and suspected cause (e.g., child, disabled, pregnant or psychotic) and may emphasize
psychosocial, environmental, and family-guidance approaches. Iron deficiency may be treatable though iron
supplement.
Rumination Disorder (Syndrome)
Also called Merycism, it is an under-diagnosed chronic motility disorder characterized by effortless
regurgitation of most meals following consumption, due to the involuntary contraction of the muscles around the
abdomen. There is no retching, nausea, heartburn, odor, or abdominal pain associated with the regurgitation, as
there is with typical vomiting. Other findings include acid-induced erosion of the esophagus and enamel, halitosis,
malnutrition, severe weight loss, and an unquenchable appetite. Cycles of ingestion and regurgitation can mimic
the binging and purging of bulimia.
Treatment
There is no known effective therapy for rumination. Treatment is different for different ages and conditions.
Biofeedback and relaxation techniques may be tried for adults.
Avoidant/Restrictive Food Intake Disorder (ARFID)
Also known as Selective Eating Disorder (SED), it is an eating disorder that prevents the consumption of certain
foods. It is often viewed as a phase of childhood that is generally overcome with age. Some people may continue to
be afflicted with ARFID throughout their adult lives.
Diagnostic criteria include: (1) Disturbance in eating or feeding certain foods; (2) Substantial weight loss or
absence of expected weight gain; (3) Nutritional deficiency; (4) Dependence on a feeding tube or dietary
supplements; (5) Significant psychosocial interference; (6) Excluding other disorders.
Treatment
Most children can benefit from a 4-stage “4R” treatment program at home based on systematic desensitization—
Record, Reward, Relax, and Review. Most adults’ symptoms eventually disappear without treatment.
SLEEP-WAKE DISORDERS
Normal Sleep
Two major stages
1. Non-rapid eye movement sleep (NREM): Characterized by slowing of the EEG rhythms, high muscle tone,
and absence of eye movements and thought activity. In this stage the brain is inactive while the body is active. It
consists of 4 sub-stages:
Stage-1: EEG shows alpha and theta waves. Stage-2 (45%, longest): Kappa (k)-complex and sleep spindles. Stage-
3: Delta-waves (slowest, “slow wave sleep”). Stage-4: Continuation of delta-waves.
2. Rapid eye movement sleep (REM): 25%, with aroused EEG patterns (sawtooth waves), sexual arousal, rapid
eye movements, generalized muscle atony, and dreams (nightmares). In this stage, the brain is active and the body
is inactive.
Changes in sleep patterns from infancy to old age
Total sleep time and REM% decrease. Stages 3 and 4 tend to vanish.
Changes in neurotransmitters during sleep
There are increased 5-HT and ACh, and decreased NE (noradrenaline) and DA (dopamine).
Sleep Disorders
The International Classification of Sleep Disorders (ICSD-3) and DSM-5 have the following similar categories of
sleep disorders:
1. Insomnia (disorder); 2. Breath-related sleep disorders (Sleep-related breathing disorders); 3. Hypersomnolence
disorder and central disorders of hypersomnolence; 4. Narcolepsy; 5. Parasomnias; 6. Sleep-related movement
disorders; 7. Circadian rhythm sleep-wake disorders; 8. Others.
Insomnia (Disorder)
It’s a disorder characterized by difficulties in initiating or maintaining sleep followed by frequent yawning and
tiredness during the day, not due to physical or mental causes. It commonly affects up to 30% of the population at
the level of functioning and is exacerbated by anxiety. It must be present > 3 times/week for 1 month for diagnosis.
Acute or transient insomnia is usually due to psychological stress or travel over time zones. Chronic causes can be
various from psychiatric, medical, medicinal, and primary.
Treatment
1. Good sleep hygiene techniques: Establish regular sleep schedule; avoid daytime naps, evening stimulation
(including CNS stimulants, alcohol). Treat underlying cause if possible.
2. If it fails, try benzodiazepines (short-term—triazolam; intermediate—estazolam, lorazepam, temazepam; long-
acting—flurazepam, quazepam), non-BZD (zolpidem), melatonin agonist (ramelteon), or diphenhydramine shortly
(< 2-3 weeks).
Breath-related Sleep Disorders (Sleep-related Breathing Disorders)
They are characterized by abnormal respiration during sleep, occurring in both adults and children. There are four
major types: (1) Central sleep apnea syndrome; (2) Obstructive sleep apnea (hypopnea) syndrome; (3) Sleep related
hypoventilation disorder; (4) Sleep related hypoxemia disorder.
They can be further divided according to their etiology.
Sleep apnea syndrome is a disorder with cessation of airflow at the nose or mouth during sleep. These apneic
episodes usually last > 10-20 sec/each, characterized by a loud snore followed by a heavy pause. It’s considered
pathologic if > 5 episodes/hr or > 30 episodes per night. It may be associated with depression and daytime
sleepiness. Risk factors include obesity, family history, alcohol or sedative intake, hypothyroidism, and structural
abnormalities.
Clinical features, subtypes, and diagnosis
1. Mostly seen in obese, middle-aged males. Patient usually presents with snoring and apnea at night, and dry
mouth, fatigue, headache and sleep during the day. Spouse complains of being interfered during the night. Patient
may develop arrhythmias, hypoxemia, pulmonary hypertension, and sudden death (especially infant and elderly).
2. Central sleep apnea (CSA): There is no central respiratory effort during the pause in breathing. After the
episode of apnea, breathing may be faster (hyperpnea) for a period of time as a respiratory compensation. CSA can
be primary (idiopathic) or secondary (mostly associated with Cheyne-Stokes breathing).
3. Obstructive sleep apnea/hypopnea (OSA): OSA is characterized by repetitive, intermittent episodes of airflow
reduction (hypopnea) or cessation (apnea) due to upper airway collapse during sleep, including adult type and
pediatric type. The airway collapse is due to muscle atonia in oropharynx or nasal, tongue, or tonsil obstruction.
Each apneic period usually lasts 20 to 30 seconds and results in hypoxia, which arouses the patient from sleep. This
occurs multiple times overnight.
4. Diagnosis: Sleep test (polysomnography) is the most accurate means of diagnosis. It can record decreased O2
saturation and distinguish OSA from CSA, seizures, etc.
Treatment
1. CSA: Try to target underlying cause. (1) Continuous positive airway pressure (CPAP) is usually tried first
(especially with Cheyne-Stokes breathing). (2) If failed, adaptive servo-ventilation (ASV) is tried. (3) If both CPAP
and ASV are failed, bi-level positive airway pressure (BPAP) is tried with a backup respiratory rate. (4) If these
cannot be tolerated, medications (acetazolamide, zolpidem, or triazolam) can be tried (if no risk factors for
respiratory depression).
2. OSA: (1) Mild to moderate cases: patient education and behavior therapy—weight reduction (for obese people),
avoidance of alcohol/sedatives intake and supine position during sleep.
(2) Severe OSAHS (> 20 apneic episodes with arterial oxygen desaturations) —continuous (fixed) positive airway
pressure (CPAP) is the main therapy, which can prevent occlusion of the upper pharynx. If not tolerated, BPAP is
an option. If this fails, uvulopalatopharyngoplasty (to remove redundant tissue in oropharynx) or an upper airway
stimulation system may be tried.
(3) Children—surgery for tonsillar/adenoidal hypertrophy.
Hypersomnolence Disorder
It is characterised by excessive daytime sleepiness that is not due to medical or mental conditions, drugs, poor sleep
hygiene, insufficient sleep, or narcolepsy. It occurs at least three times per week for at least 3 months and causes
significant distress or impairment in social or occupational functioning. This disorder is less well-defined and lack
of REM sleep and other features of narcolepsy.
Treatment
Psychostimulants (methylphenidate or amphetamine) is the choice of treatment. SSRIs may be helpful in some
patients.
Narcolepsy
Also known as hypnolepsy, it is a chronic neurological disorder involving the loss of the brain’s ability to regulate
sleep-wake cycles normally, characterized by excessive daytime sleepiness and abnormalities of REM sleep for
more than 3 months, causing significant impairment in social or occupational functioning. It’s an inherited
disorder of variable penetrance. REM sleep usually occurs in less than 5 min. Patients feel refreshed upon
awakening.
Clinical features and diagnosis
1. Involuntary “sleep attacks”: Most common symptoms—frequent irresistible sleeping at any time of day
(during any activity) that lasts several min, refreshed upon awakening, and falling asleep quickly at night.
2. Cataplexy (70%)—pathognomonic sign: Sudden loss of muscle tone, which may have been precipitated by a
loud noise or intense emotion.
3. Hypnagogic and hypnopompic hallucinations: Dreaming while awaking; it occurs as the patient is going to
sleep and is waking up from sleep, respectively.
4. Sleep paralysis: Patient cannot move when waking up.
Treatment
1. Forced naps at a regular time of day is usually helpful.
2. A psychostimulant (methylphenidate or amphetamine) is the main medical treatment. TCAs can be used if
cataplexy is present.
Parasomnias
Parasomnias are undesirable physical events (movements, behaviors) or experiences (emotions, perceptions,
dreams) that occur during entry into sleep, within sleep, or during arousals from sleep. The behaviors can be
complex and appear purposeful; however, the patient is not consciously aware of the behavior. The sub-category
includes:
(1) NREM related parasomnias: they are disorders of arousal including confusional arousals, sleepwalking, sleep
terrors, and sleep related eating disorder
(2) REM related parasomnias: involve the intrusion of the features of REM sleep into wakefulness (e.g., sleep
paralysis), exaggeration of the features of REM sleep (e.g., nightmare disorder), etc.
(3) Other parasomnias without specific relationship to sleep stage: exploding head syndrome, sleep related
hallucinations, sleep enuresis, and drug-associated parasomnias.
Nightmare (disorder): It occurs commonly in 50% of the population. Patient can remember the event upon
awakening. It increases during times of stress. There is no special therapy required but adjustment of stress.
Night terror: Awakened by scream or intense anxiety. Patient usually has no memory of the event the following
day. It’s more common in boys and with family history. No special treatment is needed. If severe, limited use of
benzodiazepines may be considered.
Sleepwalking: It occurs during stage 3-4 of sleep, with sequencing behaviors during sleep without full
consciousness; ends in waking embarrassment without remembering anything. It’s more common in young boys
and may be associated with neurologic diseases. Treatment: First assure patient’s safety. If it occurs frequently,
administer benzodiazepines to suppress stage 3-4 sleep.
14-18: Match the following clinical scenarios with the best choice of medicines.
A. Lorazepam
B. Bentropine
C. Dantrolene
D. Propranolol
E. Diphenhydramine
F. NaHCO3
G. Sertraline
H. Fluoxetine
I. Bupropion
J. Buspirone
14. A 35 y/o woman complains of continuous depressed mood, irritability, and helplessness for the past 2 months after giving birth to
the 2nd child. She was prescribed improperly with a more toxic TCA, nortriptyline, for 6 weeks. Now she’s in the ER with occasional
convulsions, hypotension, and arrhythmia (prolonged QRS on ECG).
15. A man with schizophrenia has been treated with fluphenazine for the past 3 months and suddenly presents with high fever, muscle
rigidity, and autonomic instability. There are no other abnormal findings. What’s the first medicine of choice?
16. After the above treatment, the same patient still has ataxia, tremor, and rigidity. What’s the best medication now?
17. A 50 y/o man complains of continuous depressed mood, irritability, and helplessness for the past 2 months after losing the job. He
has a history of “heart disease”, alcohol drinking, and smoking for the past few years. There are no other abnormal findings.
18. A 50 y/o man complains of continuous depressed mood, irritability, and helplessness for the past 2 months after losing the job. He
has a history of “vasculitis”, decreased memory, alcohol drinking, and smoking for the past few years, and the physician advises him to
stop alcohol drinking and smoking.
19. A 45 y/o man comes to the ER on a rainy night, and says a voice is telling him to kill himself in the hospital. When asked about the
past history, he can’t give much detailed information. He also refuses all examinations and medicines. There are no other abnormal
findings. What’s the most likely diagnosis?
A. Alcohol intoxication
B. Brief psychotic disorder
C. Malingering
D. Factitious disorder
E. Delusional disorder
20. A 50 y/o man is brought by his wife for evaluation. The man is laid off as a major manager in a big company recently, and his wife
has good income and a stable relationship with him. For the past 3 months he frequently complains of stomach pains and always
believes his wife has put poison in the food to kill him for his money. His thoughts seem logical. He denies taking any medicines. P/E
results are normal. The most likely diagnosis is
A. Schizophreniform disorder
B. Delusional disorder
C. Somatization disorder
D. Brief psychotic disorder
E. Acute stress disorder
21. A husband brings his wife to the physician for “many complaints.” For the past year, she has visited several doctors who can’t
confirm any disease, taken lots of medicines, but still feels the same symptoms. Today she has dizziness, headache, chest pain,
abdominal pain, headache, and fatigue. P/E results are unremarkable. What’s the most likely diagnosis?
A. Hypochochiasis
B. Delusional disorder
C. Somatic symptom disorder
D. Factitious disorder
E. Chronic pain syndrome
22. A 25 y/o female becomes angry and bitter after her long-year’s boyfriend left her for another woman. She soon quit her job without
giving notice and began drinking alcohol and smoking heavily, often threatening to kill her boyfriend and herself. What’s the most
likely diagnosis?
A. Acute stress disorder
B. Adjustment disorder
C. PTSD
D. Alcohol-induced mood disorder
E. Borderline personality disorder
23. An 18 y/o female complains of fatigue, headache, abdominal pain, and lack of menses for the past 3 months. Careful history taking
reveals that she has a history of binge-eating and laxative-induced diarrhea, and she always worried about gaining weight. P/E shows
her body weight is below normal limit. What’s the most likely diagnosis?
A. Anorexia nervosa
B. Bulimia nervosa
C. Major depressive disorder
D. Somatic symptom disorder
E. Chronic pain syndrome
24-29: Match the following clinical scenarios with the most likely type of personality disorders.
A. Schizotypal
B. Schizoid
C. Paranoid
D. Histrionic
E. Narcissistic
F. Borderline
G. Antisocial
H. Avoidant
I. Dependent
J. Obsessive-compulsive
24. A 50 y/o man works as a small-group supervisor in a company. He frequently has conflicts with his colleagues, and always
criticizes them with arrogance for small issues. He’s been commented as “self-centred” by his colleagues. There are no other abnormal
findings.
25. A 28 y/o female lives alone without much social life. She works as a receptionist in an office. She often ignores invitations from
colleagues for social activities, and has no outside interests. She is otherwise fine.
26. A 35 y/o man is mostly preoccupied with computer manipulations at home. He enjoys assembling and dissembling his computer
repeatedly, often talking and laughing to himself. He spends most of his time alone, and has no history of illogical speech and behavior.
27. A 28 y/o female is visiting a manager, dressing improperly in a seductive way. She keeps asking the manager to comment on her
dress. When the manager refuses, she becomes upset and walks out. There are no other abnormal findings.
28. A 30 y/o stressful financial broker complains of hard family life after losing his job, and blames his wife for it. He has a history of
work-rule and traffic violations, substance abuse, and several conflicts with colleagues.
29. A singing star walks away from the stage when the conductor points out some mistakes for her during the practice, and states she
won’t come back unless the conductor apologizes to her publicly. There are no other abnormal findings.
30. A 45 y/o obese man complains of fatigue, headache, and sleepiness during the day for the past month. These symptoms usually
follow episodes of waking up in the middle of the night recently. He’s missed several days of work due to the sleep problem. The most
likely diagnosis is
A. Narcolepsy
B. Insomnia
C. Sleep apnea syndrome
D. Hypersomnolence disorder
E. Chronic fatigue syndrome
31. A 10 y/o boy suddenly falls down without losing consciousness. P/E finds decreased muscle tone on the limbs. There are no other
abnormal findings. He does not have a special medical history. The most likely cause is
A. Sleep paralysis
B. Cataplexy
C. Syncope
D. Hypoglycemia
E. Sleep attack
32. Which of the following is the most common cause of impotence due to a medical condition?
A. Alcohol
B. CAD
C. Drugs
D. Diabetes
E. Hypertension
33. A 22 y/o man with labile mood was brought to the ER by a family member. The family member informed the physician that he’s
been on lithium for his “bipolar disorder” for the past one month. In the ER, the patient became combative. The most appropriate next
step of management is to
A. prescribe olanzapine
B. add valproic acid
C. add fluvoxamine
D. test the lithium level
E. admit into psychiatric unit
34--35. 34. A 66 y/o man is brought to the clinic by his son. He feels lack of interests, appetite and energy, sleepless, helpless, and
hopeless since his wife died 4 months ago. He says he wishes to die with his wife. The most appropriate next step of management is
A. fluoxetine
B. supportive psychotherapy
C. brief psychotherapy
D. phenelzine
E. evaluation for suicidal risk
35. After the diagnosis is confirmed, the above patient is on fluoxetine and trazodone (for his sleep disorder). Against the physician’s
advice, the patient keeps alcohol drinking. The next day he is brought to the ER with agitation, confusion, sweating, hyperthermia,
tachycardia, shivering, and tremors. The most appropriate next step of management is
A. propranolol therapy
B. supportive therapies
C. cyproheptadine therapy
D. alcohol cessation
E. fluoxetine and trazodone cessation
36. A 55 y/o man is brought to the ER after a car accident. He is suffering from multiple fractures of the limbs and skin bruises, and is
on oxycodone. The next day after his admission, he presents with confusion and tremors in both hands. He also complains of “seeing
bugs on the bed.” The most likely cause for his symptoms is
A. brief psychotic disorder
B. traumatic brain injury
C. oxycodone intoxication
D. flumazenil withdrawal
E. alcohol withdrawal
37. A 30 y/o woman assistant manager presents with “weird” behaviors revealed by her colleagues for the past 6 months. She believes
that the company will face a radical change very soon, and “a major manager’s position will be replaced by me.” She states that she has
dreamed of this several times and her dream “has always come true.” During her routine work of 5 days a week, she has certain
conflicts with some colleagues because of her wayward behaviors. Physical and psychiatric examination results are unremarkable. What
is the most likely diagnosis?
A. Delusional disorder
B. Schizophrenia
C. Brief psychotic disorder
D. Schizophreniform disorder
E. Paranoid personality disorder
Prevalence (Rate)
It’s the proportion of people with existing disease at a point in time (point prevalence) or during a period of time
(period prevalence). It refers to all cases and focuses on chronic diseases.
Incidence (Rate)
It is the rate of new diseases in a population during a period of time, not at a single point. The focus is on acute
conditions and new cases only.
It displays the distribution of the screening measurements separately for people with disease and people without
disease.
True Positives (TP): Diseased people who are correctly classified as positive.
True Negatives (TN): Well people who are correctly classified as negative.
False Positives (FP): Well people who are misclassified as positive.
False Negatives (FN): Diseased people who are misclassified as negative.
Measures of Screening Test Performance
Sensitivity
Sensitivity = A/(A+C): True (+) per all people with disease (= TP + FN).
False negative ratio = 1 – sensitivity.
High sensitivity is desirable to rule out disease in a screening test because it will rarely miss people with the
disease.
Specificity
Specificity = D/(D+B): True (-) per all well people (= TN + FP).
False positive ratio = 1 – specificity.
High specificity is desirable to rule in disease in a confirmatory test because it will rarely include a patient while
he/she does not have the disease.
Reliability
It refers to the ability of a test to measure the consistency or repeatability.
Validity (Accuracy)
It refers to the degree to which a test measures what is intended to measure. Reliability is a necessary, but
insufficient, condition for validity.
In the 2 x 2 Table, Accuracy is the proportion of all screened people who are correctly classified by the screening
test. Accuracy = (TP + TN) per all screened people.
Obesity
See “DIGESTIVE AND NUTRITIONAL DISORDERS”.
HEALTH CARE SCREENING
Health care screening is very important in promoting early diagnosis and treatment of diseases, especially
malignancies.
Mean (“Average”): The summary of the observed values divided by the number of observations. It is especially
sensitive to an outlier, and shifts toward it.
Median: The middle point of a set of observations that divides the group into two halves. The 50th percentile is the
measurement below which half the observations fall.
Mode: The most frequent value in a set of observations. The mode and median are both resistant to an outlier.
Normal Distribution
It is the continuous frequency distribution of an infinite range defined by a specific math-function. It carries the
following features:
1. A continuous, symmetrical distribution; both tails extend to infinity.
2. The arithmetic mean, mode, and median are identical.
3. The shape is determined by the mean and standard deviation (SD).
Probability of the normal distribution curve:
Between the mean and the value of 1 SD from the mean in either direction there will be 32% of the cases; there will
be 68% of the cases between the score at 1 SD above and 1 SD below the mean. Within 2 SD of the mean there are
95.5% of the cases. Within 3 SD of the mean there are 99.7% of the cases.
Probability (p)
Combined probabilities
1. For independent events, use simple multiplication. If the chance of having disease A is 0.4 and the chance of
having disease B is 0.3, the chance of having both disease A and B is 0.4 x 0.3 = 0.12 (or 12%).
2. If events are non-independent, then multiply the “p” of one event times that of the second, given that the first has
occurred.
3. For mutually exclusive events (one event precludes the occurrence of the other) is by addition. E.g., if you flip a
coin, the chance that it will be either heads or tails is 0.5 + 0.5 = 1.0 (or 100%).
4. If two events are not mutually exclusive, the combination of “p” is obtained by adding the two together and then
subtracting the product “p”. E.g., if the chance of having hypertension is 20% and the chance of being obese is 30%,
then the chance of meeting someone who is obese or has hypertension is 0.2 + 0.3 - (0.2 times 0.3) = 0.44 (or 44%).
Hypothesis Testing
At this point, data are collected and analyzed by the appropriate statistical test. Be prepared to explain the statistical
results in the test question.
p-Value
A p-value is a calculated result and standard for interpreting output from a statistical test. Classical p-value criterion
is set at 0.05 or less. If p < 0.05, then there is statistical significance for the null hypothesis (Ho). Generally
speaking, the smaller the p value, the better (significance).
Meaning of the p-value
1. Provides criterion for making decisions about the hypothesis (Ho): If p < 0.05, reject the Ho (has reached
statistical significance). If p > 0.05, do not reject the Ho (your test has not reached statistical significance).
2. Quantifies the chance that a decision to reject the Ho will be wrong.
3. Tells statistical significance, not clinical significance or likelihood.
Types of Errors
When we reject the Ho, we are not fully certain that we are correct. For some reason, the results given by the sample
may not be consistent with the whole population. If this is true, any conclusion we have on the basis of the sample
could be in error. There are two possible types of errors:
1. Type I (alpha) error:
Rejecting the Ho when it is really true, i.e., assuming a statistically significant effect on the basis of the sample when
there is none in the population. The chance of a Type 1 error is given by the p-value. If p = 0.05, then the chance of
a Type 1 error is 5 in 100, or 1 in 20.
2. Type II (beta) error:
Failing to reject the null hypothesis when it is really false, i.e., declaring no significant effect on the basis of the
sample when there really is one in the population. Type 2 error cannot be directly estimated from the p-value.
Power = 1 - beta error. Power is the capacity to detect a difference if there is one. Increasing sample size (“n”)
increases power.
Definition of Statistical Tests
Meta-Analysis
It’s a statistical method of combining the results of many studies from different sources to produce one overall,
powerful conclusion. It’s a mathematic literature review.
Correlation analysis
It ranges from -1 to +1. A positive value means that two variables go together in the same direction (positively
related), for example, years of alcohol drinking and incidence of cirrhosis. A negative value means that two
variables go in the opposite direction (negatively related), e.g., regular exercise and incidence of cardiovascular
disease. The further from zero, the stronger the relationship. A zero correlation means that two variables have no
linear relationship. Correlation does not mean causation by itself.
Types of correlations
There are two types of correlations. Pearson correlation compares two interval level variables, and the Spearman
correlation compares two ordinal level variables.
Graphing correlations using scatter plots
A scatter plot will show points that approximate a line. Be prepared to interpret scatter plots of data: positive slope,
negative slope, and which plot set indicates a stronger correlation, etc.
t-Test
It is to compare the means of two groups for an interval variable to see whether the groups are different. The output
of a t-test is a “t” statistic value, applied only for two groups; interval: 1; nominal: 1.
1. Pooled t-test: Regular t-test, assuming the variances of the two groups are the same.
2. Matched pairs t-test: If each person in one group is matched with a person in the second. Applies to linked data
of two groups before and after measurements. It is more sensitive than the pooled t-test to yield a significant P value.
Chi-Square
It’s the test method to see whether two nominal variables are independent, e.g., to analyze the efficacy of a new drug
by comparing the number of patients with certain disease who recover after taking the drug with the number who
recover without taking the drug. It’s for nominal data only and can be used in any number of groups. Interval: 0;
nominal: 2.
MEDICAL ETHICS
ETHICAL LEGAL RULES IN THE U.S. HEALTHCARE SYSTEM
1. Autonomy is essential.
Autonomy is more important than the beneficence that the patient may have in the health care. Following patient’s
wishes is more important than the intention of helping the patient.
Competent patients (with autonomy) have the right to refuse medical treatment.
Limitations on patient’s rights:
(1) Preserve life and incompetent/altered mental status.
(2) Prevent suicide or protect third parties.
(3) Protect the ethical standard of the health professional.
In reality, patients have almost absolute rights to control their bodies and to refuse treatment. Competent patients
with mental disorders retain their rights (to refuse treatment or command the court to determine “mental status”,
etc.).
Incompetent patients may also have the rights to refuse treatment via a surrogate. Assume that the patient is
competent unless clear behavioral evidence indicates otherwise. Generally speaking, competence is a legal issue
rather than a medical issue. In contested cases, only courts can decide the competence, not the physician.
Clear behavioral evidence of incompetence includes:
(1) Patient attempts suicide.
(2) Patient is significantly psychotic and dysfunctional.
(3) Patient's physical or mental state prevents simple communication and understanding.
In those situations, a psychiatric evaluation of the patient is important. It is mostly your duty, not the patient’s, to
prove or deny the patient’s competence. If you are unsure, assume the patient is competent. If patient is incompetent,
physician may rely on advance directives (oral or written).
2. Confidentiality is absolute.
A physician cannot expose a patient’s information to anyone without the patient's permission. Getting a
confidential consultation from a professional is permitted. Be careful not to be overheard by others. If you get a
court subpoena, go to the court but only disclose necessary information of the patient.
Exceptions: If the patient is a lethal threat to self or others, the physician must break the confidentiality.
These include suicide, homicide, gunshot, knife wound, child/elder abuse, major contagious disease, intoxicated
drivers, etc. Detain patient to protect the patient and others if necessary.
3. Informed consent is always necessary.
The person doing the procedure must obtain consent from the patient. Full informed consent requires that the patient
has received and has understood five pieces of information:
(1) Nature of procedure; (2) Purpose; (3) Benefits; (4) Risks; (5) Options.
There are four exceptions:
(1) Emergency; (2) Waiver by patient; (3) Patient is incompetent; (4) Therapeutic privilege (unconscious, confused,
physician taking patient’s autonomy away in interest of health).
The consent is effective in the oral (including telephone) or written form if it’s given out of the patient’s
understanding. Written consent can be verbally revoked by the patient at any time.
4. A patient should never be abandoned for financial or uncertain reasons.
5. Prevent risky health care professionals who have infectious or psychiatric diseases from contacting or working
with patients.
6. Ethics committee is important when a patient has lost the decision-making capacity and the advance directive is
missing or unclear.
7. Court order:
It’s important when the patient is incapable of understanding and the family is in disagreement. E.g., the patient has
no capacity and no healthcare proxy (agent); the family is split about the decision; caregivers wish to withdraw care
and the ethics committee is split about the decision.
Avoid going to court. Make the decision in the clinical setting if possible. Court approval of the decision to
terminate life support is rarely required. Consider going to court only if:
(1) There is intractable disagreement about a patient's competence, and about who should be the surrogate or make
the decision on life support.
(2) You perceive a serious conflict of interest between surrogate and patient's interests.
8. Life-ending issues:
(1) Physician-assisted suicide is always unethical and wrong for the physician, even if it may be legal to do so.
Thus never actively assist the patient to die sooner. Euthanasia--giving patient a lethal agent to end sufferings
and life, is highly controversial and not allowed by law and ethics in most countries. However, it is acceptable to
administer pain medication even if there is a risk of shortening the patient’s life. E.g., giving opiates to a patient with
end-stage pulmonary disease (pain-relieving but risky of respiratory suppression) is acceptable.
(2) The physician decides when the patient is dead (legally brain death) and has no obligation to provide futile
treatment when: a) the patient is brain dead; b) maximal treatment is failing or has failed; c) there’s no
pathophysiologic rationale for treatment or treatment will not achieve the goals of care.
9. Advance directive and living will:
An advance directive informs the caregivers what care the patient wishes. A living will is a written advance directive
that expresses the patient’s wishes in specific situations, e.g., DNR (“Do not resuscitate”) or DNI (“Do not
intubate”). Even with DNR or DNI, patients should still receive maximal other life-saving treatments. Both the
advance directive and the living will can be changed by the patient at any time, and the patient’s last wishes (oral or
written) must be honored most.
Durable Power of Attorney (DPOA) is a written advance directive that legally designates a person as the medical
care decision maker if the patient can’t make the decision. It’s more flexible than a living will. The designated
person should make best decisions consistent with the patient’s stated wishes.
10. Surrogate:
When patients cannot make decisions on their medical treatment and no living will or DPOA exists, decisions
should be made by persons clearly familiar with the patient’s wishes: (a) close family members; (b) close friends; (c)
personal doctors. They should use the following criteria and in this order:
(1) Subjective standard: Actual intent, advance directive. What did the patient say in the past?
(2) Substituted judgment: Who best represents the patient if he or she could decide?
(3) Best interests standard: Burdens versus benefits on the patient side.
11. Good Samaritan Laws:
It protects physicians by limiting liability when physicians voluntarily help in non-medical situations (such as
roadside help). A physician is not required by law to stop and help.
12. Special rules for children or minors:
(1) Children < 18 y/a are minors and are legally incompetent. Exceptions are emancipated minors (marriage,
military service, etc.). Minors do not have decision-making capacity and cannot consent to or refuse medical
treatment. Only the parents or legal guardian can consent or refuse. Exceptions include contraception, prenatal care,
STD, HIV/AIDS, substance abuse treatment, etc.
(2) Children between 13-18 years and living independently are treated as adults.
(3) Parents can refuse vaccines for minors, but cannot refuse necessary treatment for STD, drug abuse, pregnancy,
and life/limb-saving procedures for their children. If it’s not life/limb-saving treatment, one parent’s refusal is not
effective; if both parents refuse treatment, try to get a court order.
(4) Mother has the right to refuse necessary treatment for the fetus because it’s considered part of her body.
13. Organ and tissue donation:
Payment for organ donation is not acceptable, but payment for renewable tissues (such as sperms and eggs) is
acceptable. The organ donation organization should ask for consent for the organ donation instead of the physician,
who may have an ethical conflict of interest and more refusals. The patient’s family can refuse organ donation even
if the patient has left an organ donor card when alive.
Physician-Patient Relationship Rules
1. Patient’s interest and safety are the No.1 priority.
A physician’s obligation is to serve the patient well, not to think too much about legal protection for self. A
physician is not obligated to accept every patient coming to him/her. The physician has the right to end the
physician-patient relationship but must give the patient sufficient time to find another physician.
2. It is essential to build up a trustful, long-term relationship with the patient.
Small gifts from patients are acceptable as long as they are not tied to a specific request. Commercial gifts from
industry (such as drug companies) are never acceptable. Romantic or sexual relationship between current patients
and their physicians is never acceptable.
3. Good communication is very important.
Be sure you understand the patient’s concerns and questions before acting. Start with open-ended questions (allow
broad answers), then change to closed-ended questions (limit answer to yes/no).
You should make eye contact and let the patient know what you are doing. Talk to the patient, not colleagues.
Always be an advocate and provider for the patient. Always respond to the patient in time. Answer any question
asked. Listen, reflect, encourage. Take time to listen to the patient before you or colleagues. Tell the patient
everything possible for his/her interests if the patient is willing or ready to know. Let information pass from the
patient to the family, not the reverse direction. Express empathy, and then control the situation when facing grieving
or angry patients or family members, e.g., “I understand you are suffering, and I’m doing my best to help you.”
4. Let the patient make medical decisions from the doctor’s suggestions.
Negotiation is always better than orders.
5. Admit to the patient when you make a mistake and take responsibility.
Do not blame it on the resident, student, or nurse. Do not deceive to protect a colleague. Never lie or manipulate
patients.
6. Be responsible for patient referral.
In most cases, you have to do basic work before referring the patient to a specialist, except for certain emergencies
and specialties (such as ophthalmology). The key is not only what you do to the patient, but also how well you do it.
How to Break Bad News
1. Make sure the patient is in a comfortable and relatively private environment.
2. Ask how much the patient knows about the condition, and how much he/she wants to know.
3. If patient wants to know the truth, give the patient a warning sign, then break the news.
4. Tell patient the prognosis, but always give the patient options to make the rest of life enjoyable.
5. Try to explain everything clearly and simply.
6. If family members already know it and ask the physician not to tell the patient, you should ask “why” to explore
important information like suicide. Ask the same question if the patient refuses treatment.
7. If patient is confirmed with a contagious disease like AIDS but not wishes to tell the spouse, first encourage the
patient to do it; if patient still refuses, it’s the doctor’s moral duty to inform the spouse and the local health authority
directly.
8. If patient has a non-contagious disease but does not wish to tell the spouse, first encourage the patient to do so; if
patient still refuses, keep confidentiality for the patient.
ABUSE
Elder Abuse
It is a mandatory reportable offense, including neglect and physical, psychological, or financial cruelty toward the
elderly. Prevalence is 1-3%. Caretakers and spouses are the most likely abusers. You can report the elderly abuse
against the patient’s consent, because the abused elders may be too weak to protect themselves. Elder abuse should
be treated ethically like child abuse.
The elderly have lower incidence of all psychiatric disorders compared with younger adults, but more memory
impairment. The elderly are usually not alone and about 80% of them keep frequent contact with their children. The
family is the major social support resource for the elderly with illness. About 85% of the elderly have at least one
chronic illness; 50% have some limitation to activities; 5% are homebound.
Child Abuse
It’s a mandatory reportable offense up to age 18, including neglect (most common), battery, tissue damage,
sexual exploitation, and/or mental cruelty. Failure to report it to a legal authority is a criminal offense. If a case
is reported in error, the physician is protected from legal liability because it’s the physician’s duty to protect the
child (to be kept away from the abuser) and to report. Each year in the US, it’s reported that millions of children are
abused and thousands are killed by abuse. It is estimated that most cases of child abuse go unreported in many
countries.
Typical clinical signs (Image 121)
1. Unusual broken bones in first year of life.
2. STDs in young children, or evidence of genital bleeding, swelling, or discharge.
3. > 90% of injuries are soft tissue injuries (bruises, burns, lacerations). 5% have no physical signs.
4. Non-accidental burns (not on arms and hands, or on arms but not hands): Assoc/w poor outcome).
5. “Shaken baby syndrome”: Typical broken blood vessels may be found in the eyes.
6. Abused children are more likely to be aggressive, hostile, despised at school, or with higher rate of withdrawal
from school (more for girls).
7. Children at risk for abuse are: < 1 y/a, premature, defective, very active, step-children, and parent’s history of
child abuse.
8. Be careful not to mistake acceptable cultural practices (e.g. ‘coining’) as child abuse, but consider female
circumcision as abuse. Try to get clues by discussing with the parents how they treat the child.
Child Sexual Abuse
Most victims are 9-12 y/o girls and 50% of abusers are the family members and relatives. Most likely abusers are
stepfathers, uncles, and older male siblings or friends.
Risk factors: Single-parent families, marital conflict, history of physical abuse, and/or social isolation. > 25% of
adult females report being sexually abused as a child (defined as sex experience before age 18 with a person 5 yr
older); 50% by family members; 50% told no one.
Sexually abused women are more likely to have numerous sexual partners, more PIDs, learning disabilities, and
obesity.
Spousal Abuse
In the US, millions of women are beaten each yr and about 2000 are killed by their abusers. It is not a mandatory
reportable offense and can only be reported with the patient’s consent. It’s the physician’s obligation to give the
victim helpful counseling and information about local protective organizations.
Domestic Violence
It is not a mandatory reportable offense and can only be reported with the patient’s consent. It’s the No.1
cause of injury to women (for man, motor vehicle accident is the No.1 cause), occurring in all racial and cultural
backgrounds and socioeconomic status. Once it occurs, more events are likely to follow. Both the patient and
physician (or social worker) should be prepared for it (prevention).
Risk factors for a male abuser: Low education level, alcoholism, jealous or possessive sense, and being verbally
insulted.
Risk factors for a female to be abused: Growing up in a violent home (about 50%), married at a young age,
dependent personality (disorder), in the last-trimester of pregnancy, etc. Abused spouses tend to blame themselves
for the abuse. Thus physician’s protective consultation is a great help to the victim.
Chapter 17: High-yield Questions (HYQ)
1-5: In a study of traumatic brain injury (TBI), head MRI is used as the main diagnostic tool. Among the 100 patients enrolled with TBI,
90 are MRI (+). Among the 100 non-TBI volunteers, 5 are MRI (+).
A. 75% B. 80%
C. 85% D. 90%
E. 95% F. 9
G. 18
30. A 66 y/o man with history of smoking, chronic cough, and dyspnea is diagnosed with COPD. His symptoms are relieved after proper
treatment. He was vaccinated for both Pneumococcus and Influenza last year.
31. A 30 y/o man from the countryside presents with non-productive cough for the past month. Examination results are normal except
PPD (+). CXR is unremarkable. He is prescribed INH with Vit-B6 for 9 months.
32. A 45 y/o physician will be traveling in 2 weeks to a developing nation to lead a series of disease prevention programs. He has
received regular vaccines for hepatitis B and tetanus, but not others. He is in good general heath.
33. A newly employed nurse accidentally sticks her finger with the needle after injecting a patient who is known as HBV (+). She has
never been vaccinated for HBV and asks for the right vaccine.
34. A pregnant patient is found to be HbsAg (+) and HbeAg (+) 3 months after a blood transfusion. She is now at 28 weeks of gestation
and in generally good health.
35. An anxious father brings a 4 y/o boy to the physician after a fall. The boy is crying. P/E reveals bilateral swollen knees and arms with
bruises and tenderness. The joints have restricted range of motion. There are no other abnormal findings. What’s the best next step?
A. Multiple X-rays
B. Report to the child protective authority
C. Symptomatic treatment
D. Physical therapy
E. Restriction of movement
36. A 35 y/o female comes to the doctor crying for help. She recently discovered that her husband was having an affair with another
woman. Since then, she has been beaten by her husband on several occasions. P/E finds multiple bruises on the arms, chest and legs.
CXR reveals a soft rib fracture. What’s the most appropriate next step?
A. Symptomatic treatment
B. Give counseling and information about protective organizations
C. Advise the victim to divorce
D. Report to a protective organization
E. Psychological counseling
37. A 75 y/o man at the end stage of a chronic disease is in a coma. The physician has made best efforts for treatment and advises that
continued treatment is now futile. Among the patient’s three sons, two insist on continuing treatment but one wishes “Let it go.” What’s
your decision?
A. Stop the treatment
B. Continue the treatment
C. Ask for a court order
D. Ask for the hospital’s decision
E. Ask the three sons to reconsider
38. A 10 y/o girl is sent to the ER after a car accident. She is in life-threatening ischemic shock due to a suspected rupture of her spleen
that requires emergent blood transfusion and surgery, but the parents and girl all refuse transfusion. While preparing for the operation,
what’s your immediate next step?
A. Give the transfusion
B. Give no transfusion
C. Call for an urgent court order
D. Urgent parent counseling to get consent
E. Give other fluids available
39. A 16 y/o girl who lives independently from her divorced parents has 2-3 sexual partners. Now she is found to have an STD that
requires immediate treatment. She asks you not to inform her mother of the disease or treatment. What should you do before the therapy?
A. Obtain consent from her mother
B. Obtain consent from her closest friend of her wish
C. Obtain consent from her closest relative of her wish
D. Obtain consent from herself
E. Refer her to an expert.
40. A 20 y/o female is brought to the ER after a major traffic accident 30 min ago. She is in a state of hypovolemic shock from a
suspected severe internal hemorrhage. She is conscious and fully understands your explanations that an immediate surgery is absolutely
necessary to save her life, but she clearly rejected it. Her parents both strongly demand the surgery. The patient has signed an agreement
of “Will comply with necessary medical treatment” at admission. What’s the best next step to do?
A. Psychiatric consultation
B. Emergency court order or ethics committee
C. Follow her written agreement and perform surgery
D. Follow her oral wish of “No surgery”
E. Try other therapies first and perform surgery if she’s in a coma
Q1-5 Keys: These questions require a 2x2 (or 3x3) table. Be sure you understand how to use a 2x2 table.
Erythrocyte enzymes
Glucose 6-phosphate dehydrogenase (G-6- 250–5000 250-5000
PD) IU/106 cells µIU/cell
Iron:
Triglycerides
Desirable < 200 < 2.26
mg/dL mmol/L
Protein:
Total
6–8 g/dL 60–80g/L
Albumin
3.6–5 g/dL 36–50 g/L
Globulin
2.3–3.5 g/dL 23–35 g/L
Rheumatoid factor < 60 IU/mL < 60 kIU/L
Thyroid-stimulating
hormone (TSH) 0.35–6.2 µU/mL 0.35–6.2 mU/L
Thyroxine-
binding 100–260 mcg/L
globulin 10–26 µg/dL
capacity 1.2–3.4 nmol/L
Total
triiodothyronine 75–220 ng/dL
(T3) 51–142 nmol/L
Total
thyroxine 4–11 µg/dL 0.25–0.38
by RIA (T4) fraction of 1
T3 resin 25%-38%
uptake
Transaminase:
AST (SGOT) 11–47 IU/L 0.18-0.78
µkat/L
ALT (SGPT) 7–53 IU/L 0.12-0.88
µkat/L
Transferrin 220–400 2.20–4.00
mg/dL g/L
Urea nitrogen (BUN) 8–25 2.9–8.9
mg/dL mmol/L
Uric acid 3–8 179–476
mg/dL µmol/L
Vitamin A (retinol) 15–60 0.52–2.09
µg/dL µmol/L
Zinc 50–150 7.7–23
µg/dL µmol/L
Urine
Determination Conventional
SI units
units
Calcium 50–250 1.25–6.25
µg/day mmol/day
Catecholamines
Epinephrine < 20 µg < 109
/day nmol/day
Creatinine
Child 8–22 71–195
mg/kg µmol/kg
Adolescent 8–30 71–265
mg/kg µmol/kg
Female 0.6–1.5 5.3–13.3
g/day mmol/day
Male 0.8–1.8 7.1–15.9
g/day mmol/day
pH 4.5–8 4.5–8
Phosphate 0.9–1.3 29–42
g/day mmol/day
Potassium 25–100 25–100
mEq/day mmol/day
Protein
Total 1–14 10–140
mg/dL mg/L
A: artery
A-a: alveolar-arterial (oxygen gradient)
Ab: antibody
ABC: airway, breathing, and circulation
ABG: arterial blood gas
ACA: anterior cerebral artery
ABVD: adriamycin (doxorubicin), bleomycin, vinblastine, dacarbazine
ACE-I: angiotensin-converting enzyme inhibitor
ACh: acetylcholine
ACTH: adrenocorticotropic hormone
AD: Alzheimer disease
ADH: antidiuretic hormone
ADHD: attention-deficit hyperactivity disorder
AF, A-fib: atrial fibrillation
AFI: amniotic fluid index
AFP: alpha-fetoprotein
Ag: antigen
AIDS: acquired immunodeficiency syndrome
AKP: alkaline phosphatase
ALL: acute lymphocytic or lymphoblast leukemia
ALS: amyotrophic lateral sclerosis
ALT: alanine aminotransferase, =SGPT
AMA: American Medical Association
AML: acute myeloid leukemia
Amp: ampicillin
Amox: amoxicillin
ANA: antinuclear antibody
ANCA: anti-neutrophil cytoplasmic antibody
ANOVA: analysis of variances
AP: anteroposterior
aPTT: activated partial thromboplastin time
AR: attributable risk
ARDS: acute respiratory distress syndrome
ARF: acute renal failure
ASA: acetylsalicylic acid (aspirin)
5-ASA: 5-aminosalicylic acid
ASCUS: atypical squamous cells of undetermined significance
ASD: atrial septal defect
Assoc/w: associated with
ASO: antistreptolysin O
AST: aspartate aminotransferase
ATN: acute tubular necrosis
AV: atrioventricular
AVM: arteriovenous malformation
AVN: avascular necrosis
AXR: abdominal X-ray
AZT: azidothymidine (zidovudine)
C: cell
CABG: coronary artery bypass grafting
CaEDTA: edetate calcium disodium
CAD: coronary artery disease
Car: carcinoma, cancer
CBC: complete blood counts
CBD: common bile duct
CD: Crohn Disease
CEA: carcinoembryonic antigen
Ceph: cephalosporin
CF: cystic fibrosis
CHD: coronary heart disease
Ciprof: ciprofloxacin
CJD: Creutzfeldt-Jacob disease
CHF: chronic/congestive heart failure
Chol: cholesterol
CIN: cervical intraepithelial neoplasia
CIS: carcinoma in situ
CK: creatine kinase
CHOP: cytoxan, adriamycin (doxorubicin), oncovin (vincristine), prednisone
CLL: chronic lymphocytic/lymphoblastic leukemia
CML: chronic myelocytic/myelogenous leukemia
CMV: cytomegalovirus
CN: cranial nerve
CNS: central nervous system
CO: carbon monoxide; cardiac output
COMT: catechol-O-methyltransferase
Comp: complication
Contrain: contraindication
COPD: chronic obstructive pulmonary disease
COX-I: cyclo-oxygenase inhibitor
Cr: creatinine
CPK: creatine phosphokinase
CPR: cardiopulmonary resuscitation
CRF: chronic renal failure
C/S: culture and stain/sensitivity
C-section: cesarean section
CSF: cerebrospinal fluid
CST: contraction stress test
CT: computed tomography
CVA: cerebrovascular accident (stroke)
CVP: central venous pressure
CXR: chest X-ray
DA: dopamine
D&C: dilation and curettage
DDAVP: 1-deamino (8-D-arginine) vasopressin
Decr: decrease (d)
DDI: dideoxyinosine (HIV medication)
Def: defect, deficiency
DES: diethylstilbestrol
DEXA: dual-energy x-ray absorptiometry
DI: diabetes insipidus
DIC: disseminated intravascular coagulation
Diff-Dx: differential diagnosis
DIP: distal interphalangeal (joint)
Dis: disease, disorder
DKA: diabetic ketoacidosis
DLCO: diffusing capacity of carbon monoxide
DM: diabetes mellitus
DMD: Duchenne muscular dystrophy
DMSA: 2,3-dimercaptosuccinic acid, succimer
DNase: deoxyribonuclease
DNI: do not intubate
DNR: do not resuscitate
DRE: digital rectal examination
DTaP: diphtheria, tetanus, acellular pertussis vaccine
DTR: deep tendon reflex
DTs: delirium tremens
DUB: dysfunctional uterine bleeding
DVT: deep venous thrombosis
Dx: diagnosis
F: female
FAP: familial adenomatous polyposis
FDP: fibrin degeneration product
FEV1: forced expiratory volume in 1 second
FFP: fresh frozen plasma
Fluoroqu: fluoroquinolones
FNA (FNB): fine needle aspiration (biopsy)
FOBT: fecal occult blood test
FSH: follicle-stimulating hormone
FSMB: Federation of State Medical Boards
FTA-ABS: fluorescent treponemal antibody-absorption
FTT: failure to thrive
5-FU: 5-fluorouracil
FUO: fever of unknown origin
FVC: forced vital capacity
17-KS: 17-ketosteroids
M: male
MAC: mycobacterium avium-intracellulare complex
MAI: mycobacterium avium-intracellulare
MAOI: monoamine oxidase inhibitor
MCA: middle cerebral artery
MCHC: mean corpuscular hemoglobin concentration
MCL: medial collateral ligament
MCP: metacarpopharlangeal (joint)
MCV: mean corpuscular volume
MEN: multiple endocrine neoplasia
Met(s): metastasis
MGUS: monoclonal gammopathy of undetermined significance
MG: myasthenia gravis
MHA-TP: microhemoagglutination assay for antibodies to Treponema pallidum
MHC: major histocompatibility complex
MI: myocardial infarct
MMPI: Minnesota Multiphasic Personality Inventory
MMR: measles, mumps, rubella (vaccine)
MRA: magnetic resonance angiography
MRI: magnetic resonance imaging
MRSA: methycillin-resistent Staph. Aureus
MS: multiple sclerosis
MSAFP: maternal serum a -fetoprotein
MTP: metacarpopharlangeal (joint)
Mus: muscle, muscular
MuSK: muscle-specific kinase
MVA: motor vehicle accident
N: nerve, nervous
NBNE: National Board of Medical Examiners
Nl: normal
NF: neurofibromatosis
NG: nasogastric
NIDA: National Institute on Drug Abuse
NIDDM: non-insulin-dependent diabetes mellitus
NKH: nonketotic hyperglycemia
N-M: neuromuscular
NPH: isophane insulin suspension
NPO: nothing by mouth
NPV: negative predictive value
NS: nervous system; normal saline
NSAID: nonsteoroidal anti-inflammatory drug
NSCLC: non-small cell lung cancer
NST: nonstress test
N/V: nausea and vomiting
SA: sinoatrial
SAH: subarachnoid hemorrhage
SBO: small bowel obstruction
SBP: spontaneous bacterial peritonitis
SCD: sickle cell disease
SCID: severe combined immunodeficiency disease
SCLC: small cell lung cancer
SD: standard deviation
S/E: side effect
SEM: standard error
SES: socioeconomic status
SIADH: syndrome of inappropriate ADH
SIDS: sudden infant death syndrome
SIL: squamous intraepithelial lesion
SIRS: systemic inflammatory response syndrome
SJS: Steven-Johnson syndrome
SLE: systemic lupus erythematosus
SPEP: serum protein electrophoresis
SQ: subcutaneous
SS: somatostatin, like octreotide
SSRIs: serotonin-selective reuptake inhibitors
SSSS: Staph-A scalded-skin syndrome
STD: sexually transmitted disease
Staph-A: staphylococcus aureus
Strep-B: Streptococcus Group B
Strep-Pneum: Strep. Pneumococcus
Sup: superior
SVC: superior vena cava
SvO2: systemic venous oxygen saturation
SVR: system vascular resistance
SVT: supraventricular tachycardia
Sym: symptom
Syn: syndrome
T3: triiodothyronine
T3RU: T3 resin uptake
T4: thyroxine
TA: temporal arteritis
TAH/BSO: total abdominal hysterectomy and bilateral salpingo-oophorectomy
TB: tuberculosis
TBG: thyroxine-binding globulin
3TC: dideoxythiacytidine (lamivudine)
TCA: tricyclic antidepressant; trichloroacetic acids
Td: tetanus-dyphtherial (booster vaccine)
TE: Trach-Esoph, tracheoesophageal
TEE: transesophageal echocardiography
TEN: toxic epidermal necrolysis
TG: triglyceride
TGV: transposition of great vessels
TIA: transient ischemic attack
TID: three times a day
TIBC: total iron-binding capacity
TIPS: transjugular intrahepatic portosystemic shunt
TLC: total lung capacity
TM: tympanic membrane
TMP/SMX (Z): trimethoprim-sulfamethoxazole
TNM: tumor, node, metastasis (staging)
TORCH: toxoplasma, others, rubella, CMV, herpes
tPA: tissue plasminogen activator
TPN: total parenteral nutrition
Transplant: transplantation
TRH: thyroid-releasing hormone
TSH: thyroid-stimulating hormone
TSST: toxic shock syndrome toxin
TTP: thrombotic thrombocytopenic purpura
TV: tidal volume
Tx: treatment
V: vein
VDRL: Venereal Disease Research Lab test
V-fib: ventricular fibrillation
VLDL: very low density lipoprotein
VIPoma: vasoactive intestinal peptide tumor
VMA: vanillylmandelic acid
V/Q: ventilation/perfusion (ratio)
VSD: ventricular septal defect
V-tach: ventricular tachycardia
vWF(D): von Willebrand’s factor (disease)
Vx: vessels, vascular
VZV: varicella-zoster virus