Biomedical subjects

G Barkai

Publications and source records attributed to G Barkai.

131 records · Page 8Linked to original sources

PubMedDate not supplied

Germline mutational analysis of presenilin 1 and APP genes in Jewish-Israeli individuals with familial or early-onset Alzheimer disease using denaturing gradient gel electrophoresis (DGGE).

Germ line mutations in three genes have been detected in patients with familial Alzheimer's disease (FAD) and sporadic, early onset disease: amyloid precursor protein (APP), presenilin 1 (PS-1), and presenilin 2 (PS-2). The relative proportions in which mutations in these genes occur among AD patients in Israel has not been evaluated. To that end, we screened 52 Jewish-Israeli patients with AD: 22 with sporadic, early-onset disease (below 65 years), and 30 with FAD. Mutation screen employed denaturing gradient gel electrophoresis (DGGE) of exon-specific PCRs and restriction enzyme digest. Five patients from three different families displayed mutations within the PS-1 gene: three patients of one family showed a mis-sense mutation in codon 120 (Glu 120Lys), and two other unrelated patients showed an identical mis-sense mutation in codon 318 (Glu318Gly). No patient showed an abnormal migration on DGGE (for APP) or mutant restriction digest pattern (for PS-2) genes. These data may indicate the existence of another familial Alzheimer disease (FAD) gene locus in the Israeli Jewish population.

Adult↗

PubMedDate not supplied

Transvaginal sonographic diagnosis of cataract in a fetus.

Transvaginal ultrasonography is a relatively new technique for visualizing the orbits in a fetus of 4 to 5 cm. At fifteen weeks of gestation it is possible to recognize the lenses and the hyaloid arteries in the eyes, to diagnose structural malformations such as anophthalmos, microphthalmos, buphthalmos and moderate to severe cataract. In most cases cataracts were associated with intracranial defects. We describe a case where the sonographic diagnosis of fetal cataract was confirmed by histopathological examination. A 27-year-old woman had a routine transvaginal sonography at 15 weeks' normal gestation. Microphthalmos without a hyaloid artery and disorganization of the anterior chamber and lens consistent with cataract were demonstrated in the fetal left eye. In accordance with the parents' decision, the pregnancy was terminated a week later. Autopsy of the fetus was done and serial sections of the left eye were studied by light microscopy. Histopathological examination verified the sonographic diagnosis of fetal cataract in a microphthalmic eye. Associated findings included malformation of the anterior segment and retinal dysplasia.

Abortion, Induced↗

PubMedDate not supplied

Is fetal growth affected by cord entanglement?

Cord entanglement is a common occurrence during delivery. We examined the association of cord complications observed at delivery and birth weight. A retrospective survey of 12,241 births was performed, supplemented with a prospective study of an additional 456 deliveries. No adverse association was found in the retrospective data between cord coiled twice or more around the newborns' neck (8.3% of cases) and birth weight. Moreover, the incidence of cord around neck was significantly lower (p < 0.0006) in infants weighing less than 2000 gm at birth. A multiple regression analysis of the prospective data did not reveal any significant influence of cord complications on birth weight. We conclude that cord entanglement was not found to be a major cause of intrauterine disadvantage in pregnancies with a viable infant at term, as reflected by birth weight.

Adult↗

PubMedDate not supplied

Selective second-trimester termination of an abnormal fetus in twin pregnancies.

The probability of detecting a chromosomal or structural abnormality in one fetus of a dizygotic twin gestation is about twice that of the risk for a singleton. During the period January 1992 to October 1994 we performed selective termination of the abnormal fetus in 14 bichorionic twin gestations. Indications for selective termination were 10 structural abnormalities and 4 chromosomal abnormalities. The procedure was done at 14, 16, and between 20 and 25 weeks in 1, 2, and 11 cases, respectively. We had no pregnancy losses before 24 weeks' gestation. The mean gestational age at delivery was 34.2 +/- 3.9 (SD) weeks. In one case, severe abruptio placentae occurred and the neonate died. Thirteen neonates are alive and well. In five cases in which the procedure was done after 21 weeks' gestation, no decrease in the amount of amniotic fluid in the sac of the terminated fetus was observed. Our experience supports the general conclusion that selective termination for bichorionic abnormal twins is safe and effective.

Chromosome Aberrations↗

PubMedDate not supplied

Role of renal ultrasonography in the management of pyelonephritis in pregnant women.

OBJECTIVE: The objective of this study was to determine the usefulness of renal ultrasonography in pregnant women with pyelonephritis. STUDY DESIGN: A retrospective review was done of hospital records of 171 consecutive pregnant women admitted to the hospital over a 7-year period with the diagnosis of pyelonephritis. RESULTS: Urine cultures were positive in all but one of the women and intravenous antibiotics were administered in all cases. Renal ultrasonography was done in 75 (43.9%) of the women and results found to be normal in 26 (34.7%) of them. The renal pelvis was dilated mildly (6 to 10 mm) in 25 (33.3%), moderately (11 to 15 mm) in 16 (21.3%), and severely (> or = 16 mm) in 8 (10.7%) patients. Duplicated collecting systems and renal calculi were each found in 2 (2.7%) patients. All patients were treated conservatively with no need for ureteral stents. Three of the patients with severe hydronephrosis were first seen at term and delivery was therefore induced. There was no difference in maternal characteristics and outcome of pregnancy between women who underwent renal ultrasonography and those who did not. However, the duration of hospitalization was significantly longer (p < 0.02) for women in whom renal ultrasonography was performed (mean +/- SD, 5.8 +/- 1.7 vs 4.1 +/- 1.3 days). CONCLUSION: Renal ultrasonography is of limited benefit in pregnant women with pyelonephritis, because these imaging studies only rarely modify management and do not significantly affect pregnancy outcome.

Adult↗