Homeostasis: Eric B. Panopio, M.D

HOMEOSTASIS
Eric B. Panopio, M.D.

The Internal Environment
 adult human body: 60% fluid
 intracellular fluid
 extracellular fluid: in constant motion
 Intracellular Fluid - contain:
 large amounts of K, Mg, & PO4 ions
 Extracellular Fluid – contain:
 large amounts of Na, Cl, & HCO3 ions
 nutrients e.g. oxygen, glucose, fatty acids, a.a.
 CO2
 cellular waste products
Homeostasis
 maintenance of static or constant conditions in
the internal environment
 regulated by major functional systems
 lungs
 kidney
 GIT
The Circulatory System
 transport of the ECF through all body parts
 2 stages:
 between the body & blood vessel
 between the blood capillaries and the cells
 all blood traverses the entire circulation at an
average of once each minute when the body is
at rest
ECF Nutrients
 origin:
 respiratory system
 GIT
 liver & other organs with metabolic functions
 musculoskeletal system
ECF
NV N Range
Potassium ion 4.2 3.8-5.0
Calcium ion 1.2 1.0-1.4
Glucose 85 75-95
Body temp 98.4 98-98.8
Acid-base 7.4 7.3-7.5

Removal of Metabolic End Product
 Lungs
 CO2: most abundant of all end products of
metabolism
 Kidneys
 urea & uric acid
 excess ions & water
 glomerular filtration
 tubular reabsorption: glucose, aa, water
Regulation of Body Functions
 Nervous system
 3 parts: sensory input, CNS, motor ouput
 consist of: PNS, CNS, ANS
 Hormonal system
 consist of eight major endocrine glands
 thyroid: controls rate of chemical reactions
 insulin: control glucose metabolism
 adrenocortical h: Na, K, & CHON metabolism
Control Systems of the Body
 genetic control systems: most intricate of the
thousands of control systems in the body
 seen in regulation of:
 O2 & CO2 conc in the ECF
 arterial blood pressure
Control Systems Characteristics
 Negative Feedback
 most common type of control system
 a high concentration of CO2 causes ↑ RR resulting in low
concentration w/c is negative to the initiating stimulus
 Positive Feedback
 may cause instability leading to vicious cycles & death
 if mild, may be overcome by negative feedback to maintain
homeostasis
 Adaptive Control Systems
 feed-forward control: occur in rapid body movements
Genetic Control
The Genes
 A functional unit of heredity that occupies a specific
place (locus) on a chromosome
 Capable of reproducing itself exactly at each cell
division
 Directs the formation of an enzyme or other protein
 Consists of a discrete segment of a giant DNA
molecule containing the purine (adenine and guanine)
and pyrimidine (cytosine and thymine) bases in the
correct sequence to code the sequence of amino acids
of a specific peptide
Gene Structure
Basic DNA Building Blocks
 phosphoric acid
 a sugar called deoxyribose
 four nitrogenous bases
 2 purines: adenine, guanine
 2 pyrimidines: thymine, cytosine
 genetic code
 ability of DNA to control the formations of
proteins in the cell
Transcription
 Transfer of genetic code information from one kind of
nucleic acid to another
 Refers to the process by which a base sequence of
messenger RNA is synthesized on a template of
complementary DNA.
 The synthesis of RNA in duplicating DNA
 DNA code is transferred to an RNA code
 Basic building blocks of RNA similar to DNA except:
 ribose instead of deoxyribose
 uracil instead of thymine
Building Blocks of DNA/RNA
 The two strands in the structure of DNA are
joined only by H-bonds between the bases
 Adenine always H-bonds to Thymine (A....T)
using two H-bonds and Cytosine always H-
bonds to Guanine (C....G) using three H-bonds
Building Blocks of DNA /RNA
(DeoxyriboNucleic Acid and RiboNucleic
Acid)
RNA
 Messenger RNA
 carries genetic code to the cytoplasm
 control protein formation
 Transfer RNA
 transports activated AA to the ribosomes
 Ribosomal RNA
 form the ribosomes along with 75 different proteins
The synthesis of
RNA in duplicating
DNA is termed as
Transcription.
Synthesis of DNA
from a replication
process by RNA is
coiled as
Translation.
Down’s
Syndrome
Trisomy 21
 Down’s Syndrome
 A chromosomal dysgenesis syndrome consisting of a
variable constellation of abnormalities caused by
triplication or translocation of chromosome 21.
 1 in 700; in ↑ maternal age: 1 in 300 for 35 y/o, 1 in 22
for 45 y/o
 A genetic defect having 47 chromosome which is
caused by a meiotic non-disjunction of the
chromosome 21
 Features:
 MR
 Short stature
 Stumpy limbs
Trisomy 21
 Facies:  Prominent epicanthic skin
 Open mouth folds
 Protruding fissured tongue  Small, low-set ears
 Short nose
 Fissured and thickened
 Hands & feet: short fingers tongue
& toes  Laxness of joint ligaments
 Wide gap between 1st & 2nd  Pelvic dysplasia
toes
 Broad hands and feet
 Life expectancy almost N
 Stubby fingers
 Pre-senile dementia after 40
 Transverse palmar crease
 Mental retardation
 Increased incidence of
 Retarded growth leukemia
 Flat hypoplastic face with  Alzheimer disease by age 40
short nose
JUN CAPORAL MARIO LARAYOS ELLEN MEDINA
SHERYL PABATAO RIC QUILANETA LLOYD TABULE
WENIFREDO CAPORAL JR MARIO LARAYOS ELENITA
MEDINA SHERYL MAE PABATAO RIC QUILANETA
LLOYD ABRAHAM TABULE JUN CAPORAL MARIO
LARAYOS ELLEN MEDINA SHERYL PABATAO RIC
QUILANETA LLOYD TABULE WENIFREDO CAPORAL JR
MARIO LARAYOS ELENITA MEDINA SHERYL MAE
PABATAO RIC JOHN QUILANETA LLOYD ABRAHAM
TABULE JUN CAPORAL MARIO LARAYOS ELLEN
MEDINA SHERYL PABATAO RIC QUILANETA LLOYD
TABULE WENIFREDO CAPORAL JR MARIO LARAYOS
ELENITA MEDINA SHERYL MAE PABATAO RIC JOHN
QUILANETA LLOYD ABRAHAM TABULE JUN CAPORAL
MARIO LARAYOS ELLEN MEDINA SHERYL PABATAO
RIC QUILANETA LLOYD TABULE
Trisomy 21JUN CAPORAL ELLEN
MEDINA SHERYL MAE PABATAO JOHN QUILANETA
Trisomy 13
Trisomy 13
 aka Patau’s Syndrome
 Incidence: 1 in 5000 live births
 Shares several clinical features with Trisomy 21
but malfomations are much more severe.
 (+) maternal age effect
 Sloping forehead
 Deafness, MR, convulsions, cleft lip/palate
 Thumb rotation, rocker bottom feet
 50% death within 1st month
13
RIC QUILANETA LLOYD TABULE JUN CAPORAL ELLEN
Trisomy 13
Klinefelter’s
Syndrome
Klinefelter’s Syndrome
 aka XXY
 1 in 100 males
 Single most common cause of hypogonadism &
infertility in men
 Poorly developed secondary sexual characteristics
 Gynecomastia
 A genetic abnormality of having two or more x
chromosomes and one or more y chromosomes, it is
best defines as male hypogonadism.
 Moderate mental
impairment
 Male appearance but usually
sterile
 Half developed female-like
breasts
 Voice somewhat high
pitched
 Sparse body hair
 Small testicles
 Caused by non-dysjunction
of X chromosomes in the
mother
Gynecomastia
Turner’s
Syndrome
Turner’s Syndrome
 Aka: XO Syndrome
 Monosomy of the X chromosome
 A syndrome with chromosome count 45 and only one
X chromosome 1 in 5000 female live births
 hypogonadism, absent ovaries
 short stature, no adolescent growth spurt
 Amenorrhea
 Characteristic webbing of the neck
 Widely spaced nipples
 Reduced carrying angle of the elbow
Turner’s Syndrome
Turner’s Syndrome
 Results from a partial or
complete monosomy of
the x chromosome and is
characterized primarily
of hypogonadism in
phenotypic females.
 Anomalies:  Systemic disorders
 Dwarfism  Coarctation of the
 Webbed neck aorta

 Valgus of elbows  Edema of the feet in
 Pigeon chest
newborns
 Usually sterile
 Infantile sexual
development  Mortality
 Amenorrhea  20% with
spontaneous
abortions
German
Measles
Rubella infection
 A congenital syndrome cause
by rubella virus, causing
ocular abnormalities to
newborns, like cataract,
congenital glaucoma, iris
abnormalities, and
pigmentary abnormalities of
the retina known as rubella
retinopathy.
Alternate Names:
 Epidemic roseola, rubella infection, third
disease.
Definition
 An acute exanthematous disease caused by
rubella virus (Rubivirus), with enlargement of
lymph nodes, but usually with little fever or
constitutional reaction
 A high incidence of birth defects in children
results from maternal infection during the first
several months of fetal life (congenital rubella
syndrome).
German Measles
 Infectious disease caused by virus called rubella virus.
 First described in Germany.
 Usually very mild illness and causes no more trouble than
common cold.
 However it has a very serious consequences for a woman who
gets infected in the first 3 months of her pregnancy.
 Infant is born with blindness, deafness, CHD
Symptoms:
 usually feels unwell, slight fever, runny nose, swollen glands
behind the ears and in the neck.
 Rash appears on the 1st & 2nd day and consists of reddish-pink
spots that appear on the face and neck & then spread rapidly to
the body, especially the chest.
 Rash last for about 2 days and by the 4th or 5th day all
symptoms have faded away.
Thalidomide
Thalidomide
 Sedative, hypnotic
 34 to 50 days from
LNMP
 Features:
 Phocomelia
 CHD
 Anal stenosis
 Atresia of ext auditory

meatus
Thalidomide
Fetal Alcohol
Syndrome
Alcohol
 A result of maternal ethanol consumption at levels of
only one drink per day, first recognized in 1968
 Causes physical & behavioral abnormalities resulting
from maternal alcohol consumption
 Concentrations of alcohol in the fetus are at least as
high as in the mother
 Effects are not restricted to the sensitive period of
gestation but expanded throughout the pregnancy
 Features: MR Microcephaly
CHD Renal anomaly
Cleft palate Growth retardation
Fetal Alcohol Syndrome
Fetal Alcohol Syndrome
Features: Growth retardation, neurodevelopmental abnormalities (fine motor

skills, LD, behavior disorders, and mental retardation in 50%). Facial
dysmorphia during embryonic period (week 4-8), CNS problems during the fetal
period (migration problems, smaller dendrites, few neurons in brain regions)
Disorders of
Development
Congenital – Birth Defects

Congenital – Teratogenic Agents
Trisomy Disorders
William’s Syndrome
Autism
Critical Period Defect:
Cleft Palate
 Irreversible congenital
abnormality affecting a
critical period (palate
development) during the
embryonic and early fetal
stages
 May affect pituitary growth
as the palate and anterior
pituitary are derived from the
same embryonic tissue.
Critical Period Defect:
Anencephaly (absence of brain)

Failure for the brain to grow

beyond the rhombencephalon.
Neonate failed to survive.
Teratogens
Agents that cause
congenital
malformations
Genetic Conditions:
Chromosomal Abnormalities
 Trisomy 21 (Down’s Syndrome)
 Trisomy of other chromosomes
 Edward’s Syndrome (Trisomy 18)
 Patau’s Syndrome (Trisomy 13)
Trisomy 21: Down’s Syndrome
Non-disjunction of the 21st Chromosome

In Down’s
Syndrome, non-
disjunction of
the 21st
chromosome can
happen at the
first cell division
Trisomy 18 – Edward’s Syndrome
Some Features of Edward’s Syndrome
Facial: microcephaly, low set

malformed ears Cardiovascular problems
Skeletal: webbed neck,
overlapping of fingers and Gastrointestinal and
fixed flexion of fingers genitourinary problems
CNS: severe mental retardation,
neural tube defect, ocular Life Span: death by 12-24
abnormalities months (very few reach
adulthood)
Respiratory: apnea
Incidence: 0.2/1000 births

Trisomy 13: Patau’s Syndrome
Features:
0.1/1000 births
Spina bifida & cleft palate
CNS: underdevelopment of
frontal lobe (fails to divide)
and corpus callosum
Profound Mental Retardation
Extra fingers and toes, deaf
Life Span: 82% die in the first
month, 5-10% die in first
year.
Williams Syndrome – Partial Deletion of
the 7th Chromosome
Features:
1 in 20,000 births
Neurodevelopmental delays,
cognitive deficits, LD,
ADHD
Overly friendly, social
Extremely empathic
Low muscle tone
Extremely sensitive hearing
Brain Areas Affected:
Normal Control Williams Syndrome
Amygdala activates more
for threatening scenes and
very little for threatening
faces. This accounts for
absence of anxiety in
interpersonal interactions
(no fear, hence over
friendliness).
Also, abnormal activity in
frontal lobe and a
disconnect with the
amygdala (except for
medial-prefrontal which is
linked to empathy and the
only structure still Amygdala
connected to the amygdala)
Elastin protein, made only during the prenatal period, is absent and causes vascular problems
during life; the missing elastin gene is use to identify the 21 missing genes in Williams Syndrome.
Genetic Abnormality
of Chromosome 7:
21 genes missing
Autism
A neurodegenerative disorder
characterized by impairment
in social interaction and
communication.
Age of onset: typically

between ages 2 and 4
(sometimes earlier)
Symptoms
End:
Homeostasis
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HOMEOSTASIS

Eric B. Panopio, M.D.

Potassium ion 4.2 3.8-5.0

Calcium ion 1.2 1.0-1.4

Body temp 98.4 98-98.8

Acid-base 7.4 7.3-7.5

 Webbed neck aorta

 Atresia of ext auditory

Features: Growth retardation, neurodevelopmental abnormalities (fine motor

Congenital – Birth Defects

Failure for the brain to grow

Non-disjunction of the 21st Chromosome

Facial: microcephaly, low set

Incidence: 0.2/1000 births

Age of onset: typically

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