Neural tube closure defects occurred in 33% of the embryos obtained from matings of male mice heterozygous for a reciprocal chromosome translocation (T(2;4)1Sn) with normal female CFLP mice. Light and electron microscopic observations of neuroepithelium and mesenchyme in affected embryos indicated two distinct types of anomalies occurred. The first consisted of neuroepithelial hypertrophy and n...

Pax-3 is a transcription factor that is expressed in the neural tube, neural crest, and dermomyotome. We previously showed that apoptosis is associated with neural tube defects (NTDs) in Pax-3-deficient Splotch (Sp/Sp) embryos. Here we show that p53 deficiency, caused by germ-line mutation or by pifithrin-alpha, an inhibitor of p53-dependent apoptosis, rescues not only apoptosis, but also NTDs,...

OBJECTIVE Association of mirror movements with special kinds of neural tube defects, particularly cranial dermal sinus and cervical myelomeningocele, is extremely rare. We have tried to explain the probable pathophysiology underlying this rare condition. CLINICAL PRESENTATION Two cases are presented. Case 1: A right-handed 3-year-old boy brought to the outpatient clinic for evaluation of mirr...

Neural tube defects (NTDs) are common complex congenital malformations resulting from failure of the neural tube closure during embryogenesis. It is established that folic acid supplementation decreases the prevalence of NTDs, which has led to national public health policies regarding folic acid. To date, animal studies have not provided sufficient information to establish the metabolic and/or ...

Neural tube defects (NTDs) are congenital malformations of the brain and spinal cord caused by the failure of neural tubes to close between 21 and 28 days after conception (Sadler, 2005). Any disruption of neurulation during or prior to this time may result in a defect or failure of neural tube closure. Non-invasive prenatal diagnostic testing by ultrasound and maternal serum screening, which s...

Spina bifida and anencephaly, the common form of neural tube defects, affect approximately 300 000 newborns each year worldwide. The effectiveness of folic acid supplementation in preventing their occurrence or recurrence has been unambiguous since 1991. In general, the prevalence of these abnormalities has decreased in the past 20 to 30 years because of periconceptional folate supplementation,...

Background: Genetic factors and a dysregulated immune response towards commensal bacteria contribute to the pathogenesis of Inflammatory Bowel Disease (IBD). Animal models demonstrated that the normal intestinal flora is crucial for the development of intestinal inflammation. However, due to the complexity of the intestinal flora, it has been difficult to design experiments for detection of pro...

It has been indicated lately that higher plasma homocysteine is one of the risk factors in neural tube defects(NTDs) and vascular disease. Methionine synthase is a key enzyme in homocysteine metabolism. The defects of methionine synthase activity could result in hyperhomocysteinemia and methionine auxotrophy. The gene mutations of methionine synthase with the epidemiological studies of NTDs are...

A prospective program for the prenatal detection of neural tube defects in a high-risk pregnancy group has been under way for one year. Twenty high-risk mothers have undergone a complete prenatal work-up, including sonography, amniocentesis, and amniotic fluid and maternal serum alpha-fetoprotein quantitation. Within this group, two cases were prospectively diagnosed and were later confirmed.