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Biomedical subjects

H Nazer

Publications and source records attributed to H Nazer.

At least 37 records · Page 2Linked to original sources
PubMed1991

Cystic fibrosis presenting with recurrent vomiting and metabolic alkalosis.

Between January 1980 and December 1987, ten Saudi Arabian children at Saudi Arabian Oil Co. (Saudi Aramco) health care facilities in the Eastern Province of Saudi Arabia had cystic fibrosis (CF). The incidence of CF in Saudi Arab children less than or equal to 14 years was 1 in 4243. Five of the ten children had hypoelectrolytaemia and metabolic alkalosis on initial presentation. Two of the five had recurrent vomiting, hypoelectrolytaemia and metabolic alkalosis alone and initially no chest symptoms. Early exclusion of CF should be part of the workup in any child, especially in an infant with hypoelectrolytaemia and metabolic alkalosis.

Alkalosis↗
PubMed1991

Congenital hepatic fibrosis in Saudi Arabia.

Congenital hepatic fibrosis (CHF) is a recognized cause of portal hypertension with oesophageal varices, gastro-intestinal haemorrhage and cholangitis in children without significant impairment of hepatic or renal function. This report describes the varied clinical presentation of CHF as seen at King Faisal Specialist Hospital and Research Centre (KFSH & RC) and emphasizes the clinical patterns that should enable a pediatrician to consider the diagnosis. Fourteen children with CHF were diagnosed between 1981 and 1988. The age at presentation ranged from 1.8-14 years (mean: 7.5 years); clinical manifestations at diagnosis were splenomegaly (12), hepatomegaly (11), failure to thrive (10), marked abdominal distention (4), and fever (4). Liver function tests were normal except for high alkaline phosphatase. Eight patients had polycystic kidneys confirmed on ultrasound examination. Upper gastro-intestinal endoscopy showed oesophageal varices of variable severity in all eight patients examined. Splenoportography revealed splenic vein occlusion in one patient. One patient died within days of admission with convulsions, coma, and aspiration pneumonia. One patient was lost to follow-up. The remaining 12 patients are all alive and receive regular follow-up. Two patients required splenorenal shunt. In view of the prevalence of consanguinity in Saudi Arabia, the diagnosis of CHF should be considered in children with hepatomegaly despite normal liver function tests, and particularly in those with renal abnormalities and/or evidence of portal hypertension.

Adolescent↗
PubMed1991

Bile acids and bile alcohols in a child with hepatic 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase deficiency: effects of chenodeoxycholic acid treatment.

Duodenal bile, urine, plasma, and feces from a child with hepatic 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase deficiency were analyzed by fast atom bombardment mass spectrometry and gas chromatography-mass spectrometry to investigate the formation and excretion of abnormal bile acids and bile alcohols. The biliary bile salts consisted of glycocholic acid (25%) and of sulfated and glycine conjugated di- and trihydroxycholenoic acids (55%), two C27 bile acids, and eleven sulfated bile alcohols (mainly tetrols, 20%), all having 3 beta,7 alpha-dihydroxy-delta 5 or 3 beta,7 alpha,12 alpha-trihydroxy-delta 5 ring structures. In plasma, sulfated cholenoic acids constituted 65% and unconjugated 3 beta,7 alpha-dihydroxy-5-cholestenoic acid 25% of the total level, 71 micrograms/ml. The urinary excretion of the former was 30.4 mg/day and that of unsaturated bile alcohol sulfates, mainly pentols, 7 mg/day. The predominant bile acid in feces was an unconjugated epimer of 3 beta,7 alpha,12 alpha-trihydroxy-5-cholenoic acid, and small amounts of cholic acid were present. The minimum total excretion was 11.3 mg/day. Treatment with chenodeoxycholic acid resulted in marked clinical improvement and normalized liver function tests. Further studies are needed to define the mechanism of action. Plasma bile acids decreased to 1.6 micrograms/ml and urinary excretion to 3.4 mg/day. Chenodeoxycholic and ursodeoxycholic acids became predominant in all samples. The fecal excretion of unsaturated cholenoic acid sulfates increased to 40 mg/day compared to 89 mg/day of saturated bile acids. The results provide further support for a defective hepatic 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase deficiency, and indicate that the 3 beta-hydroxy-delta 5 bile acids are formed via 7 alpha-hydroxycholesterol. The formation of glycocholic acid may be due to an incomplete enzyme defect or to transformation of the 3 beta-hydroxy-delta 5 structure by bacterial and hepatic enzymes during an enterohepatic circulation.

3-Hydroxysteroid Dehydrogenases↗
PubMed1990

Treatment of chronic liver disease caused by 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase deficiency with chenodeoxycholic acid.

Deficiency of 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase, the second enzyme in the sequence that catalyses the synthesis of bile acids from cholesterol, leads to chronic liver disease in childhood as well as to malabsorption of fat and fat soluble vitamins. A 4 year old boy with this condition has been successfully treated by oral administration of a bile acid--chenodeoxycholic acid. He had been jaundiced since birth, grew poorly because of rickets, and had severe pruritus. Plasma transaminase activities were persistently raised. Chenodeoxycholic acid 125 mg twice daily for two months, and then 125 mg daily, cured his jaundice and pruritus, returned his transaminase activities to normal, and eliminated the need for calcitriol for prevention of rickets. On this treatment he has so far remained well for two years. A diagnosis of 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase deficiency should be considered in any child with unexplained chronic hepatitis or cirrhosis, especially if the liver disease is accompanied by a clinically obvious malabsorption of fat soluble vitamins. A simple colorimetric test of the urine confirms the diagnosis and effective treatment can be started.

3-Hydroxysteroid Dehydrogenases↗
PubMed1990

Lack of 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase/isomerase in fibroblasts from a child with urinary excretion of 3 beta-hydroxy-delta 5-bile acids. A new inborn error of metabolism.

Cultured fibroblasts were shown to be capable of catalyzing the conversion of 7 alpha-hydroxy-cholesterol to 7 alpha-hydroxy-4-cholesten-3-one, an important reaction in bile acid synthesis. The apparent Km was approximately 7 mumol/liter and Vmax varied between 3 and 9 nmol/mg protein per h under the assay conditions used. The assay was used to investigate fibroblasts from a patient who presented with a familial giant cell hepatitis and who was found to excrete the monosulfates of 3 beta, 7 alpha-dihydroxy-5-cholenoic acid and 3 beta, 7 alpha, 12 alpha-trihydroxy-5-cholenoic acid in urine (Clayton, P. T., J. V. Leonard, A. M. Lawson, K. D. R. Setchell, S. Andersson, B. Egestad, and J. Sjövall. 1987. J. Clin. Invest. 79:1031-1038). In addition 7 alpha-hydroxy-cholesterol was found to accumulate in the circulation. Cultured fibroblasts from this boy were completely devoid of 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase/isomerase activity. Fibroblasts from his parents had reduced activity, compatible with a heterozygous genotype. The results provide strong evidence for the suggestion that this patient's liver disease was caused by a primary defect in the 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase/isomerase involved in bile acid biosynthesis.

3-Hydroxysteroid Dehydrogenases↗
PubMed1989

Cystic fibrosis in Saudi Arabia.

Cystic fibrosis (CF) is generally believed to be rare or nonexistent in Saudi Arabia. The aim of this report is to document the occurrence of CF in Saudi Arabia. Thirteen Saudi children were diagnosed as having CF, evidenced by typical clinical features and elevated sweat chloride concentrations (greater than 60 mmol/l). Duration of symptoms prior to diagnosis varied from 1 month-5 years (mean 23 months). The main clinical manifestations of the children were abdominal distention, failure to thrive, steatorrhoea, hepatomegaly, rectal prolapse and recurrent respiratory infections, often with Pseudomonas aeruginosa. In addition, eight patients with symptoms and a family history highly suggestive of CF, but without confirmatory sweat test results are presented. We hope that this report will increase the awareness of CF and ensure an earlier diagnosis of the disease in Saudi Arabia.

Child, Preschool↗
PubMed1988

A diagnostic dilemma in Jordan: two child abuse case studies.

Child abuse was diagnosed in two Jordanian children. The first was a 15-month-old female infant admitted with a history of convulsions and loss of consciousness. The child had previous head and limb injuries resulting in bilateral subdural hematomas and fractures at different stages of healing of femur and pelvis. The second was a 3-year-old male admitted with history of head injury due to an alleged fall. Examination revealed fractured ribs, bruised eye and face, hemothorax, subperiosteal and subdural hematomas. Both children have sustained physical and mental handicaps. This is the first report of child abuse in Jordan. In Jordan, as in the rest of the world, a high index of suspicion is needed to diagnose child abuse early enough to save the affected child its serious sequelae.

Battered Child Syndrome↗
PubMed1987

Neonatal limb gangrene and renal vein thrombosis. Case report with review of literature.

A 3-day-old male infant born to a non-diabetic mother was admitted to the University Hospital with gangrene of the right forearm and some gangrenous patches of the left forearm. This was associated with left renal vein thrombosis. Screening tests for coagulation disorders gave normal results. The gangrenous right forearm was amputated and subsequently grafted. The skin lesions of the left forearm were successfully grafted. The renal system recovered well on supportive measures. The course of hospitalization and subsequent follow-up assessment at 3 months of age were satisfactory.

Forearm↗
PubMed1987

Neurological abnormalities in Wilson's disease are reversible.

The therapeutic responses of seven children with Wilson's disease who presented with neurological disease were evaluated. Neurological abnormalities comprised intellectual deterioration in 7, conduct disorder in five, dystonia in three, choreoathetosis in three, seizures in one and hemiparesis in one. Lethargy and weight loss were present for several months in 6 children. Four children had clinically demonstrable liver disease which was fatal in two. Electroencephalography performed in two children was normal. Computed tomography (CT) of the brain in three children showed cerebral atrophy in all and areas of low attenuation in the basal ganglia which resolved on treatment in one. All patients were treated with penicillamine but, in four, triethylene tetramine (TETA) was substituted because of adverse effects. Neurological abnormalities in these patients were reversible.

Adolescent↗
PubMed1986

Association of meningitis with infantile gastro-enteritis.

It is the policy at the Jordan University Hospital to perform lumbar puncture on children with gastroenteritis who present with one or more of the following: age less than 1 month, convulsions, hypoactivity or marked irritability, and depressed sensorium. Review of the records of 737 children admitted with gastro-enteritis between January 1980 and October 1984 showed that lumbar puncture was performed on 351 (47.6%) children. Acute bacterial meningitis was diagnosed in only three children, two of whom had already received treatment before admission and the third had obvious meningeal signs. These findings do not justify the present policy on lumbar puncture in children with gastroenteritis and it is proposed that the procedure be reserved for children in whom abnormal CNS findings persist after initial correction of fluid and electrolyte balance or with overt signs of meningitis.

Acute Disease↗
PubMed1986

Wilson's disease: clinical presentation and use of prognostic index.

As the results of treatment in Wilson's disease are so dependent on the stage at which penicillamine therapy is started, the antecedent history in 34 patients with Wilson's disease was analysed with particular respect to the earliest manifestations of the disease. Lethargy and anorexia (70%) jaundice (56%) and abdominal pain (48%) were the commonest symptoms and less common were intellectual deterioration (22%) and recurrent epistaxes (22%). The duration of symptoms before diagnosis ranged from five days to three years (mean 10.5 months) and in only five of the patients was the diagnosis established before referral. Analysis of the physical signs at presentation showed hepatomegaly (81%) and splenomegaly (70%) to be common and the only signs which were significantly more common in the 13 fatal cases were jaundice and ascites. In three of these and in one other patient who survived the clinical course was exceptionally severe and was indistinguishable from fulminant hepatic failure. Based on the severity of abnormality of serum aspartate aminotransferase, bilirubin, and prothrombin time on admission a prognostic index was derived which enabled complete separation of fatal and nonfatal cases and when subsequently used in a further nine index cases correctly predicted the outcome. Two further cases found to have indices in the fatal category did well after liver transplantation, which needs to be considered as soon as the diagnosis is established in cases with such severe liver damage.

Adolescent↗
PubMed1986

Clinical associations of Aeromonas spp. in fecal specimens from children.

Human infections caused by Aeromonas spp. are being reported with increased frequency. We examined 1012 unselected stool specimens from 799 children for various pathogens, including Aeromonas spp., to evaluate the clinical associations of Aeromonas spp. in the stools of children in the East End of London. A total of 33 children had positive cultures for Aeromonas spp. These were identified as: Aeromonas hydrophila (16), A. sobria (9), A. caviae (8). Aeromonas spp. were identified by being oxidase positive in character, a property that distinguishes Aeromonas spp. from Enterobacteriaceae. Associated pathogens included Salmonella typhimurium (1), Campylobacter spp. (3), Enteropathogenic Escherichia coli (2), and Giardia lamblia (1). Electron microscopic examination of the stool of 13 children revealed viral particles in two, rotavirus (1), and coronavirus-like particles (1). The associated clinical features in the 25 children with only Aeromonas excretion were diarrhea (21), vomiting (10), abdominal pain (9), fever (4), and mild dehydration (2). Five patients had macroscopic blood loss in the stools. The illness was generally mild and lasted only a short time.

Aeromonas↗
PubMed1984

Cystic fibrosis in Jordan: a pilot study.

Cystic fibrosis (CF) was diagnosed in 12 children from a total of 15,314 children admitted to the Paediatric Department at Jordan University Hospital (JUH) over the period 1976-1980. A diagnosis of meconium ileus was made in five children. The remaining seven affected children were diagnosed clinically on the basis of recurrent chest problems, failure to thrive, positive family history and a high level of sweat chloride, range 72-115 mEq/l (mean 97.6 mEq/l). Five children died (41.7%); three of the group with meconium ileus died during the post-operative period and two of the other group died soon after the diagnosis was made. The cause of such a high mortality rate is multifactorial. As CF was only recently recognized in Jordan, it is believed that the prevalence of CF among Jordanian children is underestimated. CF is still a very serious illness that demands early diagnosis and an intensive programme of continuing care. Therefore, further prospective study to evaluate its prevalence and impact on child health in Jordan is urgently needed.

Child, Preschool↗
PubMed1983

Wilson's disease: a diagnostic dilemma.

A 13 year old boy presented with headache, sore throat, myalgia, and fever and subsequently developed haemolytic anaemia and acute liver failure. Wilson's disease, a rare cause of acute liver failure, was diagnosed at necropsy. In such cases Wilson's disease must be diagnosed at an early stage for treatment to be effective. The most reliable indications are increased urinary and hepatic copper concentrations.

Acute Disease↗