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Biomedical subjects

H M Nazer

Publications and source records attributed to H M Nazer.

8 recordsLinked to original sources
PubMed1993

Fanconi's syndrome with hepatorenal glycogenosis associated with phosphorylase b kinase deficiency.

OBJECTIVE: To describe two patients with Fanconi's nephropathy secondary to glycogen storage disease and speculate on the possible etiology. DESIGN: Convenience sample. SETTING: Tertiary care, referral center. PATIENTS: Two related children referred for failure to thrive, rickets, and hepatomegaly. INTERVENTION: Dietary and therapeutic measures for rickets and renal tubular acidosis. MEASUREMENTS AND RESULTS: The main laboratory findings were fasting hypoglycemia and massive glucosuria, with evidence of multiple renal tubular dysfunction characteristic of the Fanconi syndrome. Liver and kidney biopsy specimens were consistent with glycogen storage disease. Enzymatic assay of liver homogenates revealed marked deficiency of phosphorylase b kinase in one patient and absent activity in the other. CONCLUSION: Phosphorylase b kinase deficiency may be causally related to hepatorenal glycogenosis with the Fanconi syndrome. More patients with this syndrome need to be studied before a definitive causal role is implicated.

Biopsy↗
PubMed1992

Early diagnosis of cystic fibrosis in Jordanian children.

Cystic fibrosis (CF) is the most common fatal genetic disease in childhood. The high infant mortality rate in Jordan and many other developing countries is mostly due to an increased prevalence of malnutrition, diarrhoeal diseases, and chest infections, which are also recognized clinical features of CF. Reports of CF among Arabs in neighbouring countries have stimulated clinical studies to evaluate the prevalence and incidence of this disease among Jordanian children. In a prospective study, 7682 neonates from 10 different hospitals in Jordan were screened for CF using the BM test for meconium albumin. Four cases gave a positive reaction to BM test strips. Cystic fibrosis was confirmed in three by sweat chloride test using pilocarpine iontophoresis. This represents an incidence of 1:2560 live births. In spite of the recognized limitations for the use of the BM test on meconium for mass screening of CF, this study has contributed to the increased awareness of the occurrence of CF among Jordanian children.

Albumins↗
PubMed1992

Conjoined twins: medical, surgical and ethical challenges.

Four sets of conjoined twins were reviewed. One set was of the omphalopagus type with no associated abnormalities and were successfully separated at 12 days of age. The other three were of the thoracoomphalopagus type with major cardiac and other abnormalities, they were not amenable to surgery and did not survive. Conjoined twins require precise clinical and radiological evaluation. Many factors contribute to the management of such twins and ethical issues must be considered before surgical separation is undertaken.

Abnormalities, Multiple↗
PubMed1991

Intestinal lymphangiectasia masquerading as coeliac disease.

Intestinal lymphangiectasia (IL) usually presents with either non-specific general or gastro-intestinal symptoms. As IL may mimic other gastro-intestinal disorders, the diagnosis is often delayed. Intestinal lymphangiectasia was diagnosed in three children who were originally treated as cases of coeliac disease. Two were sisters who had been placed on a gluten-free diet, for 3 years in one and 10 years in the other, with no favourable response. The third patient had been tried on various formulae and underwent many investigations for failure to thrive, oedema, abdominal distension and recurrent chest infections. The diagnosis of IL was based on clinical history, physical examination and radiological and histological findings. The three patients were commenced on a medium-chain triglyceride-based diet and vitamins, with satisfactory results.

Adolescent↗
PubMed1988

Bile-plug syndrome.

A case of bile plug syndrome in a 6-week-old male infant is described. The clinical, radiological and pathological appearances suggested the preoperative diagnosis. Confirmation and correction of this condition was made surgically.

Bile↗