Early Diagnosis

Vascular problems such as thrombosis and stenosis of the hepatic artery, portal vein, and hepatic vein are serious complications after living-donor liver transplant and can cause increased morbidity, graft loss, and patient death. The aim of this study was to assess the incidence, treatment, and outcome of recipient vascular complications after living-donor liver transplant in a single Egyptian center. Between November 2006 and March 2014, we performed 226 living-donor liver transplants for 225 patients at Dar Al Fouad Hospital in 6th of October City in Egypt. Review of all patients with vascular complications was performed. In 20 of 225 recipients (8.9%), there were vascular complications that occurred from day 0 to 14 (mean, 5.6 ± 3.4 d). Complications included isolated hepatic artery thrombosis in 7 patients (35%), isolated portal vein thrombosis in 6 patients (30%), isolated hepatic vein stenosis in 3 patients (15%), and isolated hepatic artery stenosis in 1 patient (5%). Combin...

Molybdenum cofactor deficiency (MoCD) is a rare metabolic disorder characterized by severe and rapidly progressive neurologic damage caused by the functional loss of sulfite oxidase, 1 of 4 molybdenum-dependent enzymes. To date, no effective therapy is available for MoCD, and death in early infancy has been the usual outcome. We report here the case of a patient who was diagnosed with MoCD at the age of 6 days. Substitution therapy with purified cyclic pyranopterin monophosphate (cPMP) was started on day 36 by daily intravenous administration of 80 to 160 μg of cPMP/kg of body weight. Within 1 to 2 weeks, all urinary markers of sulfite oxidase (sulfite, S-sulfocysteine, thiosulfate) and xanthine oxidase deficiency (xanthine, uric acid) returned to almost normal readings and stayed constant (>450 days of treatment). Clinically, the infant became more alert, convulsions and twitching disappeared within the first 2 weeks, and an electroencephalogram showed the return of rhythmic ele...

Pancreatic cancer is a rapidly fatal disease, and there is an urgent need for early detection markers and novel therapeutic targets. The current study has used a proteomic approach of two-dimensional (2D) gel electrophoresis and mass spectrometry (MS) to identify differentially expressed ...

OBJECTIVES The goals of this study were to: (1) determine if management according to a standardized clinical management pathway/algorithm (compared with usual treatment) improves clinical outcomes by 6 weeks; and (2) assess the reliability and validity of a standardized clinical management pathway for chronic cough in children. METHODS: A total of 272 children (mean ± SD age: 4.5 ± 3.7 years) were enrolled in a pragmatic, multicenter, randomized controlled trial in 5 Australian centers. Children were randomly allocated to 1 of 2 arms: (1) early review and use of cough algorithm (“early-arm”); or (2) usual care until review and use of cough algorithm (“delayed-arm”). The primary outcomes were proportion of children whose cough resolved and cough-specific quality of life scores at week 6. Secondary measures included cough duration postrandomization and the algorithm’s reliability, validity, and feasibility. RESULTS: Cough resolution (at week 6) was significantly more likely in the ear...

Pharyngeal perforations are uncommon in children and are usually secondary to instrumentation or external penetrating injuries. A delay in management can lead to life-threatening complications such as ret-ropharyngeal abscess, mediastinitis, and airway com-promise. We report ...

Summary: Rasmussen encephalitis is a chronic, progres- sive inflammation of the brain of unknown origin. Early diagnosis and treatment with immunoactive agents and/or hemispherectomy are sought to prevent the progressive cognitive decline that accompanies this disease. Combined anatomic and functional neuroimaging may serve to focus the diagnostic workup and to hasten brain biopsy for de- finitive diagnosis. Two biopsy proved

FDG-PET ([18F]fluorodeoxyglucose positron emission tomography) is frequently used to improve the differential diagnosis of dementia. However, a fundamental methodological issue of the reference area for the intensity normalization procedure is still unsolved. Here, we systematically compared the two most commonly used normalization methods to the cerebral and to the cerebellar metabolic rate for glucose with regard to detection and differentiation of dementia syndromes. FDG-PET imaging was performed on 19 subjects with early Alzheimer's disease, 13 subjects with early frontotemporal lobar degeneration and 10 subjects complaining of memory impairment, which had not been confirmed by comprehensive clinical testing. Images were normalized to either the cerebral or the cerebellar metabolic rate for glucose. Differences in relative regional glucose metabolism were assessed by voxelwise comparison. Analysis using the two normalization procedures revealed remarkable differential effec...

This study used a community sample of 954 participants (475 girls and 479 boys; aged between 10.9 and 17.3 years and from the city of Barcelona) and a risk group of 78 participants (35 men and 43 women; derived from the community sample) that have exceeded ≥95 percentile ...

Early detection and treatment of neonatal hyperbilirubinemia is important in the prevention of bilirubin-induced encephalopathy. In this study, we evaluated the New Jersey pediatricians' practices and beliefs regarding the management of neonatal hyperbilirubinemia and their compliance with the recommendations made by the American Academy of Pediatrics (AAP) in 1994. A survey questionnaire was mailed to a random sample of 800 pediatricians selected from a list of 1623 New Jersey Fellows of the AAP initially in October 2003 and then in February 2004 for the non-respondents. In addition to the physicians' demographic characteristics, the questionnaire addressed various aspects of neonatal hyperbilirubinemia management including the diagnosis, treatment, and follow up as well as the pediatricians' beliefs regarding the significance of risk factors in the development of severe hyperbilirubinemia. The adjusted response rate of 49.1% (n = 356) was calculated from the 725 eligib...

Familial hypercholesterolemia (FH) is one of the most common and severe genetic diseases, causing disabilities and premature death to those who suffer it. Lipid-lowering therapy substantially improves the prognosis of FH patients and, therefore, appropriate pharmacological treatment is of the utmost importance. The Spanish Society of Arteriosclerosis (SEA) has always been a pioneer in the diagnosis and treatment of FH. Since its inception, FH has been one of the main areas of clinical and scientific interest, mainly for Lipids Units of the SEA, where most patients with this pathology are referred in Spain. This document arises from the willingness of our society to update the scientific knowledge on this subject and to provide physicians with clear clinical guidelines regarding diagnosis and treatment of FH. These guidelines can be summarized in two main aspects: early diagnosis of the disease and a rapid normalization of LDL cholesterol. In the coming years, health providers should...

Objectives: To establish the socio-demographic and clinical profile of children attending Early Intervention Program (EIP).Methods: Retrospective analysis of case records of 100 consecutive children examined from July 2002 to June 2004. Data regarding socio-demographic variables, clinical profile, locomotor, speech and audiology functions were recorded. Data is described in terms of frequency and mean (with SD).Results: Mean age of these children was 4.0±1.4 years. 70% were male and a similar percentage hailed from urban areas. 88% were mentally retarded with mean IQ of 50±24.3. Cerebral Palsy was seen in 50% of the children, learning disorder in 24%, Attention Deficit Hyperactivity Disorder (ADHD) in 12% and autism in 4%. 25% of children suffered from epilepsy and 66% were unable to communicate verbally. 21% of children had strong evidence of genetic disorders. An etiological diagnosis could not be made in 31% of children.Conclusions: Awareness of developmental delay as well as of possible interventions is low in India. Speech delay is the only delay which is considered important by parents. Active involvement and early referrals from pediatricians, obstetricians and other specialists is suggested.

Nonsegmental vitiligo is considered to be an autoimmune disease and is known to be associated with other autoimmune diseases, particularly affecting the thyroid. Screening patients with nonsegmental vitiligo for thyroid function and for the presence of thyroid autoantibodies has been recommended. To investigate the prevalence of thyroid dysfunction and thyroid peroxidase-specific (TPO) antibodies in a large cohort of patients with nonsegmental vitiligo in order to help decide whether routine screening is justified. A total of 434 adults with nonsegmental vitiligo who were referred to our institute were enrolled. Thyroid function and anti-TPO antibody titres were assessed in those patients who had no history of thyroid disease or recent thyroid screening. Forty-three patients had already been diagnosed with thyroid dysfunction, and in 27 patients the general practitioner had performed a thyroid function test with negative results <3months previously. In these patients, thyroid fun...

Address: Department of Psychology, Royal Holloway, University of London, Egham, Surrey, TW20 0EX, UK Email: Jan Mitchell* - j.mitchell@rhul.ac.uk; Clare Bradley - c.bradley@rhul.ac.uk * Corresponding author ... Abstract Background: The Age-related Macular Degeneration Alliance ...

A common theory of autism spectrum disorder (ASD) symptom onset includes toddlers who do not display symptoms until well after age 2, which are termed late-onset ASD cases. Objectives were to analyze differences in clinical phenotype between toddlers identified as ASD at initial evaluations (early diagnosed) versus those initially considered nonspectrum, then later identified as ASD (late diagnosed). Two hundred seventy-three toddlers recruited from the general population based on a failed developmental screening form or parent or physician concerns were followed longitudinally from 12 months and identified as early- and late-diagnosed cases of ASD, language delayed, or typically developing. Toddlers completed common standardized assessments and experimental eye-tracking and observational measures every 9–12 months until age 3. Longitudinal performance on standardized assessments and experimental tests from initial evaluations were compared. Delay in social communication skills was ...