The coordinated migration of bilateral cardiomyocytes and the formation of the cardiac cone are essential for heart tube formation. We investigated gene regulatory mechanisms involved in myocardial migration, and regulation of the timing of cardiac cone formation in zebrafish embryos. Through screening of zebrafish treated with ethylnitrosourea, we isolated a mutant with a hypomorphic allele of...

OBJECTIVE This study aimed to investigate the single nucleotide polymorphisms (SNPs) of SMO and neural tube defects (NTDs) in Chinese population. METHOD A total of 113 NTDs cases and 138 healthy controls were used in this study. 10 selected single nucleotide polymorphism (SNP) sites in the SMO gene were analyzed with MassArray high-throughput DNA analyzer with matrix-assisted laser desorption...

OBJECTIVE Walking assessment is an important aspect of rehabilitation practice; yet, clinicians have few psychometrically sound options for evaluating walking in highly ambulatory children. The purpose of this study was to evaluate the validity and reliability of two new measures of walking function-the Obstacles and Curb tests-relative to the 10-Meter Walk test and Timed Up and Go test in chil...

Nicolai Tulp, the physician whose features are immortalized in Rembrandt's painting 'The School of Anatomy', first suggested the name 'spina bifida' (Tulpius, 1652), though the condition was known to Hippocrates, and the mediaeval Arab physicians are said (Denuce, 1906) to have specifically recognized the absence of the spinous processes in the affected area. Ruysch (1691) distinguished between...

Objective: Spina bifida is one of the most severe birth defects and can happen as a result of disrupted primary neurulation. Congenital vertebra and costa anomalies are more frequently seen with spina bifida, and associated anomalies significantly affect the prognosis of affected children. In this study, we aimed to determine the incidence of scoliosis, costal anomalies, and vertebral deformati...

PURPOSE To describe, within a state-wide transition framework, the pathway to improved health support services for adults with spina bifida. Our aim was to achieve adult care that addressed adult health issues, despite significant budgetary restraints and competition for the public health dollar. METHOD A pilot clinical service project in one of the Area Health Services and a transition workf...

There have been statistically significant seasonal variations of annencephalus and spina bifida in each country of the United Kingdom during 1964-79 with the exception of anencephalus births in Northern Ireland. The seasonal peaks, where discernible, are in phase. Embryos appear to develop anencephalus most commonly in May-June and spina bifida in July.

Neural tube defects (NTDs) (OMIM #182940) including anencephaly, spina bifida and craniorachischisis, are severe congenital malformations that affect 0.5-1 in 1,000 live births in the United States, with varying prevalence around the world. Mutations in planar cell polarity (PCP) genes are believed to cause a variety of NTDs in both mice and humans. SCRIB is a PCP-associated gene. Mice that are...

Individual studies of the genetics of neural tube defects (NTDs) contain results on a small number of genes in each report. To identify genetic risk factors for NTDs, we evaluated potentially functional single nucleotide polymorphisms (SNPs) that are biologically plausible risk factors for NTDs but that have never been investigated for an association with NTDs, examined SNPs that previously sho...

The impact of the posterior callosal anomalies associated with spina bifida on interhemispheric cortical connectivity is studied using a method for estimating cortical multivariable autoregressive models from scalp magnetoencephalography data. Interhemispheric effective and functional connectivity, measured using conditional Granger causality and coherence, respectively, is determined for the a...