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Biomedical subjects

D Branski

Publications and source records attributed to D Branski.

At least 55 records · Page 3Linked to original sources
PubMed1993

Deteriorating neurological and neuroradiological course in treated biotinidase deficiency.

We report a 7-month-old female baby with recent onset of neurological manifestations and mucocutaneous candidiasis. Immunological findings were compatible with severe combined immune deficiency (SCID). Infectious etiology of the central nervous system (CNS) involvement was ruled out. Biotinidase deficiency was suspected because of the concomitance of neurological and immunological deficits and was confirmed by enzymatic assay. Comprehensive treatment, including bone marrow transplantation (BMT) and biotin, resulted in immunological recovery, but no improvement of neurological condition. Serial brain CT scans over a period of 2 1/2 years demonstrated profound progression of brain atrophy involving gray matter.

Amidohydrolases↗
PubMed1993

Progressive systemic sclerosis sine scleroderma in a child presenting as nocturnal seizures and Raynaud's phenomenon.

Progressive systemic sclerosis sine scleroderma, as well as neurological manifestations of progressive systemic sclerosis are rare in adult-onset cases. Neither have been reported in children with progressive systemic sclerosis, either separately or together. We describe a six-year-old girl with nocturnal seizures and Raynaud's phenomenon of three years' duration. She died of cardiopulmonary sclerosis without ever fitting the required criteria of systemic sclerosis. Nailfold capillaroscopy revealed the specific "scleroderma-pattern" and provided the only clue for a diagnosis of progressive systemic sclerosis, confirmed eventually by skin biopsy.

Child↗
PubMed1992

Eicosanoids content in small intestinal mucosa of children with celiac disease.

Celiac disease (CD) is characterized by diarrhea, growth retardation, and weight loss in genetically susceptible subjects on a gluten-containing diet. The exact pathogenesis of CD is still obscure, but it is considered to be immunologically mediated. We have previously shown elevated prostaglandin E2 (PGE2) and thromboxane B2 (TxB2) content in small intestinal mucosa obtained from active celiac children. In the present study, we found significantly elevated PGE2, leukotriene B4 (LTB4), and leukotrienes C4, D4, and E4 (LTC4D4E4) content in small bowel mucosa from children suffering from CD on a gluten-containing diet in comparison to control subjects. PGE2 was 25,278 +/- 7,761 vs. 4,478 +/- 426 pg/mg of protein (mean +/- SEM), respectively. LTB4 was 8,807 +/- 3,706 vs. 403 +/- 63 pg/mg of protein (mean +/- SEM), respectively. LTC4D4E4 was 15,369 +/- 4,085 vs. 2,998 +/- 279 pg/mg of protein (mean +/- SEM), respectively. We conclude that the elevated content of arachidonic acid metabolic products via cyclooxygenase and lipoxygenase pathways may contribute to the diarrhea and may be involved in the pathogenesis of mucosal injury.

Adolescent↗
PubMed1992

Eicosanoids in hypoxic insult to neonatal rabbit bowel.

Eicosanoids, derivatives of arachidonic acid, play a role in several inflammatory diseases of the bowel. To determine whether prostaglandin E2 (PGE2), leukotriene B4 (LTB4), and leukotriene C4D4E4 (LTC4D4E4), have a role in hypoxic insult to the intestine, we examined the levels of these mediators in a hypoxic neonatal rabbit model. One group of animals underwent hypoxic insult postnatally, the second group did not undergo hypoxia and served as a control. The levels of PGE2, LTB4, and LTC4D4E4 were determined by radioimmunoassay. PGE2 in the hypoxic group was 1,779 +/- 142 pg/mg protein (mean +/- SD) as opposed to 2,380 +/- 197 pg/mg protein in the control group (p less than 0.02). LTB4 level was 5,446 +/- 3,492 pg/mg protein in the hypoxic rabbits and 3,362 +/- 2,570 pg/mg protein in the control group (p less than 0.03). There was no statistically significant difference in the level of LTC4D4E4 between the two groups. Our study shows that hypoxia shifts the arachidonic acid metabolism toward enhanced lipoxygenase activity with a resultant increase in LTB4 levels and a concomitant decrease in cyclooxygenase activity with reduced PGE2 levels in the bowel. The shift in the balance between these eicosanoids may play a role in the pathogenesis of ischemic-hypoxic bowel diseases by enhancing the inflammatory response in the intestine, and simultaneously, diminishing cytoprotection.

Animals↗
PubMed1991

Barrett's esophagus in a young patient with Raynaud's phenomenon.

We describe a 12-year-old girl with Raynaud's phenomenon (RP) of 3 years' duration, who developed Barrett's esophagus with severe stricture. Barrett's esophagus complicating progressive systemic sclerosis has been reported in adult patients, but not in childhood. Barrett's esophagus following RP alone has not been reported, to the best of our knowledge, in any age group.

Barrett Esophagus↗
PubMed1990

Recurrent, familial Reye-like syndrome with a new complex amino and organic aciduria.

Five of 13 siblings from a Jewish-Ashkenazi family suffered from recurrent Reye-like episodes. During attacks, these patients excreted alpha-keto-adipic, alpha-hydroxy-adipic, and alpha-aminoadipic acids, branched-chain keto acids and saccharopine in addition to lactic, pyruvic, and dicarboxylic acids characteristic of Reye syndrome. The serum concentrations of citrulline and alpha-amino-adipic acid were elevated and carnitine was at the upper limit of the normal range. Serum acetoacetate level was 4-5 times the beta-hydroxybutyrate level, but the pyruvate/lactate ratio was normal. Notably, plasma ketone bodies were lower than expected from the degree of catabolism. When the patients were symptom-free, no abnormal amino or organic acids in serum or urine were detected. These findings might be interpreted as a functional impairment at three different biochemical sites: fatty acid beta-oxidation, dehydrogenase complexes of the pyruvic, alpha-ketoglutaric, alpha-ketoadipic, and branched-chain keto acids, and pyruvate carboxylase. We suggest that in this hereditary disorder a toxic substance, exogenously or endogenously derived, interfered at multiple sites in different metabolic pathways.

Adipates↗
PubMed1990

Disappearance of IgM antibodies to hepatitis A virus after an acute infection in children and adolescents.

The kinetics of IgM antibodies to hepatitis A virus (HAV) following an acute infection, were studied in 17 children. Antibodies disappeared in two patterns, one group at 113 +/- 18 days after the acute infection in the children, and the second group at 283 +/- 90 days. The same two patterns of kinetics were seen in adults. We conclude that IgM anti-HAV antibodies can be found in the sera of children for over 6 months after the acute infection, as was observed in adults.

Acute Disease↗
PubMed1990

Isolated lipase and colipase deficiency in two brothers.

Two brothers of Arab origin, aged 15 and 10 years, with isolated congenital lipase and colipase deficiency are described. Both were normally developed with a history of passing greasy stools since early infancy. Both have remarkable steatorrhoea and low serum carotene and vitamin E concentrations. After exocrine pancreatic stimulation, lipase and colipase activities in the duodenal fluid were almost completely absent, while amylase trypsin, bile salt, and pH values were normal. No other aetiology for exocrine pancreatic insufficiency was found. This is the first report of congenital combined lipase and colipase deficiency in two brothers.

Adolescent↗
PubMed1989

Natural course of atrial septal aneurysm in children and the potential for spontaneous closure of associated septal defect.

Atrial septum aneurysm (ASA), usually involving the region of the fossa ovalis, has rarely been described in children. In this study, the incidence and natural course of this anomaly were prospectively evaluated in 3,500 children referred for echocardiographic examination. ASA was found in 35 patients, 19 female and 16 male (1.0%). Patients were 6 years of age or younger at the time of diagnosis and 18 were neonates. None of the 750 children with normal echocardiograms had ASA. The most common associated lesion was atrial septal defect (ASD), which occurred in 24 of the 35 patients (69%). Other associated cardiac lesions were ventricular septal defect in 10, pulmonary stenosis in 5, patient ductus arteriosus in 4 and coarctation or interruption of the aorta with subaortic membrane in 2. No clinical complications were associated with ASA. Six patients with complex heart disease died. When associated with ASD, the direction of the ASA motion and that of the shunt found by Doppler echocardiography were similar. Fourteen patients with ASD were followed for 0.5 to 4 years. In 8 the ASD closed and in 6 the ASA disappeared. In 6 patients the ASD and ASA persisted until the end of the follow-up (p less than 0.01). Thus, the incidence of ASA in children in this series was higher than previously presumed and usually was associated with other cardiac anomalies, mainly ASD. In children, ASA tends to disappear with age and may have a role in spontaneous closure of associated ASD.

Abnormalities, Multiple↗
PubMed1989

Glycogen storage disease, Fanconi nephropathy, abnormal galactose metabolism and mitochondrial myopathy.

We present a 4-year-old male suffering from profound muscular weakness, enzymatically undefined glycogen storage disease. Fanconi nephropathy and impaired galactose utilization. Distorted mitochondria, intramitochondrial fat droplets and partial deficiencies of pyruvate dehydrogenase complex, succinate: cytochrome c oxidoreductase, and cytochrome c oxidase have been found in muscle tissue. The causal relationship between mitochondrial myopathy, glycogen storage disease, Fanconi nephropathy and impaired utilization of galactose is discussed.

Child, Preschool↗
PubMed1989

Breast-feeding of term infants. Three-hour vs. four-hour non-demand. A randomized controlled reappraisal of hospital-based feeding schedules.

On those maternity wards where "rooming in" is not practiced, infants are fed according to fixed schedules. The purpose of this study was to investigate possible differences between two common feeding regimens, three-hourly vs. four-hourly feeds during the first 3 days of life. A group of 152 singleton, full-term infants with birth weights 2,500-2,990 g, born at Bikur Cholim Hospital in Jerusalem from February 1988, to August 1988, were randomly assigned to one of two breast-feeding groups and followed prospectively. The study group (62 infants) was breast-fed every 4 hours, and the control group (90 infants) every 3 hours. The two groups were statistically similar for mean maternal age, parity, ethnic origin, social class, neonatal Apgar scores, birth percentile, and mean birth weights. Infants who breast-fed every 4 hours did not have greater transitional weight loss or higher serum bilirubin levels compared to infants fed at 3 hour intervals.

Adult↗