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עמוד בית
Fri, 05.12.25

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December 2022
Lior Charach MD, Gideon Charach MD, Eli Karniel MD, Dorin Bar Ziv MD, Leonid Galin MD, Weintraub M MD, Itamar Grosskopf MD

Background: APOE genotype strongly affects plasma lipid levels and risk for cardiovascular disease and cognitive decline. Studies of apo-e allelic and APOE genotype frequencies among several populations have revealed interesting ethnic variations that might affect cardiovascular morbidity and cognition deterioration.

Objectives: To evaluate apo-e allelic frequency among Israeli newborns based on known variances in apo-e allelic frequencies in different countries.

Methods: We examined 498 consecutive neonates born at Tel Aviv Sourasky Medical Center. Umbilical cord blood was sampled for genotyping and lipids. Birth weights were recorded. Demographics and parental risk factors for atherosclerosis were obtained from the mothers.

Results: Most parents were native-born Israelis. Other countries of origin of grandparents were Morocco, Russia, and Iraq. The prevalence of APOE genotypes in Israel is APOE 2/2: 1.4%, APOE 2/3: 8.2%, APOE 3/3: 77.7%, and APOE 4/4: 11.8%. There were no associations of APOE genotype with parental country of origin. However, there was a tendency for APOE 3/4 to be more frequent in newborns of parents of Asian and African origin. Genotype 3/3 was more frequent in newborns whose parents came from Europe and America (78%) compared to those from Asia or Africa (69%).

Conclusions: It is important to determine risk factors such as APOE genotype for evaluation of premature atherosclerosis. Determining genetic and environmental risk factors may facilitate earlier treatment and prevent heart and brain atherosclerosis. APOE genotypes did not appear to affect total cholesterol, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, or triglyceride levels in newborns.

January 2015
Yael Adler-Levy MD, Simcha Yagel MD, Michael Nadjari MD, Yaakov Bar-ziv MD, Natalia Simanovsky MD and Nurith Hiller MD
Background: Sonographic evaluation of congenital skeletal dysplasias is often challenging. Ultrasound may be limited in demonstrating the skeleton and may overlook specific signs of skeletal abnormality. Computed tomography (CT) with 3D reconstruction was proposed as an aid in the diagnosis of skeletal dysplasias.

Objectives: To describe our experience with 3D-CT imaging for the evaluation of suspected skeletal dysplasias.

Methods: The study group comprised 20 pregnant women carrying 22 fetuses, referred for further evaluation by CT following sonographic suspicion of fetal skeletal dysplasia at 17–39 weeks of gestation. Examinations were performed using various CT protocols. Radiation exposure was decreased during the study period, with eventual lowering of the dose to 1–3 mSv. Meticulous review of the skeleton and long bone measurements were performed on 3D reconstructions. For cases of pregnancy termination, the postmortem diagnosis was compared retrospectively with the CT findings.

Results: Very low dose CT protocols provided excellent diagnostic images. Of 22 fetuses suspected of having skeletal dysplasia on ultrasound, 8 were found by CT to be dysplastic and in 7 the pregnancy was terminated. Postmortem findings, when available, concurred with the CT diagnosis. The remaining 14 fetuses within this cohort were found to be normal according to CT and were carried to term.

Conclusions: 3D-CT may be a valuable complimentary imaging tool to ultrasound for the diagnosis of skeletal dysplasias. Using low dose protocols makes this examination relatively safe, and in the appropriate clinical context may assist in making difficult decisions prenatally.
July 2002
Dorith Shaham, MD, Tamar Sella, MD, Arnon Makori, MD, Liat Appelbaum, MD, Avraham I. Rivkind, MD and Jacob Bar Ziv, MD
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