Volumetric Brain MRI Study in Fetuses with Intrauterine Growth Restriction Using a Semiautomated Method.

Background And Purpose: According to the medical literature, it is known that intrauterine growth restriction is associated with abnormal fetal brain findings. The aim of this study was to assess the volume of fetal brain structures in fetuses with intrauterine growth restriction compared with the control group and to examine the effect of intrauterine growth restriction on birth weight in relation to the effect on the volumes of these structures.

Materials And Methods: This historical cohort study included 26 fetuses diagnosed with intrauterine growth restriction due to placental insufficiency.

Twin discordance: a study of volumetric fetal brain MRI and neurodevelopmental outcome.

Objective: This study employed magnetic resonance imaging (MRI) to compare brain volumes of discordant twins and examined their neurodevelopment after birth by using a validated exam.

Study Design: A prospective historical cohort study of discordant dichorionic diamniotic (DCDA) or monochorionic diamniotic (MCDA) twin fetuses, who undergone an MRI scan to evaluate growth restriction in the discordant twin (weight < 10 centile) during 6 years period, at a single tertiary center. Twenty-seven twin pairs were included in the volumetric study and 17 pairs were included in the neurodevelopmental outcome examination.

Clinical Characterization of 162 COVID-19 patients in Israel: Preliminary Report from a Large Tertiary Center.

Background: In February 2020, the World Health Organisation designated the name COVID-19 for a clinical condition caused by a virus identified as a cause for a cluster of pneumonia cases in Wuhan, China. The virus subsequently spread worldwide, causing havoc to medical systems and paralyzing global economies. The first COVID-19 patient in Israel was diagnosed on 27 February 2020.

Molecular Characterization of Down Syndrome Embryonic Stem Cells Reveals a Role for RUNX1 in Neural Differentiation.

Down syndrome (DS) is the leading genetic cause of mental retardation and is caused by a third copy of human chromosome 21. The different pathologies of DS involve many tissues with a distinct array of neural phenotypes. Here we characterize embryonic stem cell lines with DS (DS-ESCs), and focus on the neural aspects of the disease.

Reversion of FMR1 Methylation and Silencing by Editing the Triplet Repeats in Fragile X iPSC-Derived Neurons.

Fragile X syndrome (FXS) is the most common form of inherited intellectual disability, resulting from a CGG repeat expansion in the fragile X mental retardation 1 (FMR1) gene. Here, we report a strategy for CGG repeat correction using CRISPR/Cas9 for targeted deletion in both embryonic stem cells and induced pluripotent stem cells derived from FXS patients. Following gene correction in FXS induced pluripotent stem cells, FMR1 expression was restored and sustained in neural precursor cells and mature neurons.

Molecular mechanisms regulating the defects in fragile X syndrome neurons derived from human pluripotent stem cells.

Fragile X syndrome (FXS) is caused by the absence of the fragile X mental retardation protein (FMRP). We have previously generated FXS-induced pluripotent stem cells (iPSCs) from patients' fibroblasts. In this study, we aimed at unraveling the molecular phenotype of the disease.

Comparing ESC and iPSC-Based Models for Human Genetic Disorders.

Traditionally, human disorders were studied using animal models or somatic cells taken from patients. Such studies enabled the analysis of the molecular mechanisms of numerous disorders, and led to the discovery of new treatments. Yet, these systems are limited or even irrelevant in modeling multiple genetic diseases.

MDC1 is ubiquitylated on its tandem BRCT domain and directly binds RAP80 in a UBC13-dependent manner.

The cellular response to DNA damage is essential for maintenance of genomic stability. MDC1 is a key member of the DNA damage response. It is an adaptor protein that binds and recruits proteins to sites of DNA damage, a crucial step for a proper response.

PAPP-A levels as an early marker of idiopathic preterm birth: a pilot study.

Objective: To evaluate late PAPP-A levels as predictive of preterm birth in symptomatic women.

Study Design: Prospective cohort study of singleton gestations, 23 to 34 weeks, and symptoms of preterm labor. PAPP-A, IGF-I and IGF-III analysis were performed.

Hypertensive disorders of pregnancy and the small for gestational age neonate: not a simple relationship.

Objectives: Intrauterine growth restriction (IUGR) reflected by small for gestational age (SGA) status is considered a measure of severity of hypertensive disorders of pregnancy. The purpose of this study was to ascertain whether hypertensive disorders of pregnancy and SGA correlate with severity of hypertension, suggestive of common pathophysiological pathways.

Study Design: Perinatal and hospital data from 1998-2002 were reviewed.