Results We present the case of a 29-year-old pregnant woman referred to our center due to dichorionic diamniotic twin pregnancy (concordant with sex), hypothyroidism and fetal spina bifida associated to Arnold-Chiari malformation type II. She denied the use of folic acid supplementation during pregnancy. The previous pregnancy was uneventful. The patient's husband was a 32-year-old and nonconsa...

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.

OBJECTIVE To determine the relation between neurophysiological abnormalities and the radiological detection of spina bifida occulta in patients with dysfunction of the lower urinary tract. DESIGN Blind assessment and subsequent decoding of mixed batch of abdominal radiographs from patients with and without urological symptoms for evidence of spina bifida occulta and comparison of results with...

BACKGROUND Allergy to natural rubber latex is a well-recognized health problem, especially among health care workers and patients with spina bifida. Despite latex sensitization being acquired in health institutions in both health care workers and patients with spina bifida, differences in allergen sensitization profiles have been described between these two risk groups. OBJECTIVE To investiga...

Cervicogenic headaches are a nosologic entity recently recognized. In our common practice, we have noticed a relative frequency of the atlas spina-bifida occulta during the brain CT scan realized for headaches without cranio-encephalic causes or any other anomaly of the upper cervical region. The aim of this study was to determine a possible connection between cervicogenic headaches (CEH) and a...

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...