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...

OBJECTIVES The objective of our study was to test the hypothesis that in utero repair of surgically created spina bifida in a sheep model using cryopreserved human umbilical cord (HUC) patch improves neurological outcome. METHODS Spina bifida with myelotomy was surgically created in timed pregnant ewes at gestational day (GD) 75. The fetuses were randomly assigned to unrepaired versus HUC and...

The neural tube defects (NTD) are a group of congenital malformations which are depressingly familiar to many obstetricians in the UK. Despite intensive investigation, their basic aetiology remains unknown. It seems probable that genetic factors are involved, interacting with environmental agents early in gestation to prevent closure of the neural tube. The number of the mutant genes is unknown...

OBJECTIVES Inhabitants of the subarctic region of the Eastern James Bay of Northern Quebec consume a diet low in folate. This is largely secondary to poor access to plant-foods and a preferred diet high in meat, fowl, and fish as in many other northern populations. Furthermore, there is a high frequency of spina bifida in the Cree of the region. It was hypothesized that genetically altered fola...

Neural tube defects (NTDs) are severe congenital malformations that result from incomplete neurulation of the central nervous system. While collapsin response mediator protein 4 (CRMP-4) plays a critical role in the regulation of neurulation, information regarding the temporal expression of CRMP-4 during embryonic development of the spinal cord has yet to be reported. We therefore investigated ...

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...

We report monozygotic twins with longitudinal radial hypoplasia and low (L5) spina bifida occulta, but with differing severity. There is only one previous report of similar twins. We report these identical twins with the expression of longitudinal radial hypoplasia with mirror image pattern on contralateral sides, and the association of low spina bifida occulta.

result of multicenter study showing efficacy of sildenafil in men with MS. [16] Palmer J, Kaplan W, Firlit C. Erectile dysfunction in spina bifida is treatable. Lancet 1999;354:125-6. Small group of men with spina bifida successfully treated with sildenafil.References continued ►