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Biomedical subjects

A Y Barakat

Publications and source records attributed to A Y Barakat.

At least 19 recordsLinked to original sources
PubMed1989

The incidence of congenital abnormalities of the kidney and urogenital system in Lebanon.

In an attempt to define the incidence of congenital abnormalities of the kidney and urogenital system in Lebanon, 37,500 consecutive hospital records of newborn infant delivered at the American University of Beirut Medical Center from 1975 to 1985 were reviewed. The study revealed 6.32 abnormalities per 1000 newborns. These figures are lower than those reported in the literature, because of the very small number of autopsies performed in this country. A prospective, cooperative study by major nurseries in the country, performing fetal ultrasonography on every at-risk pregnancy, and the performance of more autopsies are needed to come out with more accurate figures on the incidence of these abnormalities in Lebanon. Early detection of congenital abnormalities of the kidney and urinary tract is of vital importance to institute early treatment to decrease the occurrence of end-stage renal disease.

Academic Medical Centers↗
PubMed1985

Ocular abnormalities and renal disease: a review.

The eye is a mirror that reflects pathologic changes occurring in many organs. The present paper presents eye changes in renal disease including hereditary progressive nephritis, cystic disease of the kidney, cystinosis, and diffuse mesangial sclerosis. It also touches on these changes in some syndromes with major renal involvement.

Child, Preschool↗
PubMed1984

Renal tubular insufficiency, cholestatic jaundice, and multiple congenital anomalies--a new multisystem syndrome.

We are describing two male siblings with proximal renal tubular insufficiency, cholestatic jaundice, predisposition to infection, and multiple congenital anomalies. These patients presented in the early neonatal period with micrognathia, low set ears, high arched palate, barrel shaped chest, bilateral simian creases, club feet, congenital hip dislocation, hypotonia, conjugated hyperbilirubinemia, repeated infections, and severe failure to thrive. They died at the age of 2 and of 4 months despite medical therapy. Findings of renal tubular insufficiency included persistent renal tubular acidosis, glucosuria, phosphaturia, aminoaciduria, and mild proteinuria. Kidney biopsy, liver biopsy, and a comprehensive immunologic investigation were performed on the first sibling. Kidney histology was normal except for calcification of some distal tubules. Liver biopsy revealed paucity of bile ducts, bile stasis, and some inflammatory cell infiltration. Immunologic investigation suggested a defect in polymorphonuclear cell migration and intracellular killing. Review of the literature revealed remarkably similar findings in two previously reported male siblings. These four cases probably represent a previously unrecognized familial syndrome. The possible etiology and mode of inheritance of this syndrome are discussed, and the association of hepatic and renal tubular dysfunction is reviewed.

Abnormalities, Multiple↗
PubMed1978

Tuberous sclerosis. Report of nine cases and a review.

Tuberous sclerosis is characterized by epilepsy, mental retardation and adenoma sebaceum. Seizures and mental retardation were the presenting complaints in the nine cases presented here; however, a variety of clinical manifestations of the disease exist. Early diagnosis facilitates genetic counseling.

Adenoma↗
PubMed1978

Computerized axial tomography in family members of patients with tuberous sclerosis.

The diagnosis of unsuspected TS has been reached with the aid of computerized axial tomography. Most cases are sporadic, but incomplete forms of the disease may be difficult to detect. We have, therefore, studied nine immediate family members of four cases with TS. The results were negative in all of them, confirming the earlier notions that, in the absence of adenoma sebaceum in either parent, the disease is most probably sporadic.

Humans↗
PubMed1977

Familial nephrosis, nerve deafness, and hypoparathyroidism.

Two male siblings with nephrotic syndrome, nerve deafness, and hypoparathyroidism are described. Each child, one at five years of age and the other at eight years, died in renal failure. At autopsy the parathyroid glands were absent in one child and hypoplastic in the other one. Two twin male siblings presented with similar findings and died at the age of three years. At autopsy their parathyroid glands were fibrotic, and glomerular basement membranes were thickened. This may be the first recorded association of familial nephrosis, nerve deafness, and hypoparathyroidism. The mode of transmission is compatible with autosomal recessive inheritance.

Child, Preschool↗
PubMed1977

Acute lymphoblastic leukemia diagnosed by renal biopsy.

An 8-year-old boy who presented with recurrent attacks of acute non-oliguric renal failure is described. Hemograms were normal and the kidneys were not enlarged. A renal biopsy was done and diagnosis was acute lymphoblastic leukemia. The etiology of renal failure in leukemia is discussed.

Acute Disease↗