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Results for “Neural Tube Defects”

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At least 1,801 records · Page 100Linked to original sources
PubMed1995

Targeted disruption of mammalian hairy and Enhancer of split homolog-1 (HES-1) leads to up-regulation of neural helix-loop-helix factors, premature neurogenesis, and severe neural tube defects.

Mammalian hairy and Enhancer of split homolog-1 (HES-1) encodes a helix-loop-helix (HLH) factor that is thought to act as a negative regulator of neurogenesis. To directly investigate the functions of HES-1 in mammalian embryogenesis, we performed a targeted disruption of the HES-1 locus. Mice homozygous for the mutation exhibited severe neurulation defects and died during gestation or just after birth. In the developing brain of HES-1-null embryos, expression of the neural differentiation factor Mash-1 and other neural HLH factors was up-regulated and postmitotic neurons appeared prematurely. These results suggest that HES-1 normally controls the proper timing of neurogenesis and regulates neural tube morphogenesis.

Animals↗
PubMed1999

Heterotaxy-neural tube defect and holoprosencephaly occuring independently in two sib fetuses.

We report on two sib fetuses, products of a consanguineous union, who had multiple and apparently unrelated malformations. The first fetus, a female, had trilobed lungs, a single cardiac ventricle, asplenia, situs ambiguus of the liver, and a lumbosacral meningomyelocele. The brain of this fetus was normal. The second fetus, a male, had bilobed lungs, a single cardiac ventricle, situs solitus of the abdominal organs and spleen, and a semilobar holoprosencephaly. The occurrence of these malformations in sibs of different sexes and the parental consanguinity suggest a recessive mutation in a gene responsible for both heterotaxy and midline defects, including holoprosencephaly.

Female↗
PubMed1980

Neural tube defect discovered at routine ultrasound evaluation.

A case is presented in which a major CM was discovered during routine ultrasound evaluation. Radiographic techniques offered ancillary assistance in establishing the diagnosis. With more frequent use of ultrasound in obstetrics, investigators must be constantly alert to the possibility of anatomic defects that may be identifiable, particularly in high-risk situations.

Adult↗
PubMed2001

Neural tube defects and neuroepithelial cell death in Tulp3 knockout mice.

The tubby-like protein 3 (Tulp3) gene has been identified as a member of a small novel gene family which is primarily neuronally expressed. Mutations in two of the family members, tub and tulp1, have been shown to cause neurosensory disorders. To determine the in vivo function of Tulp3, we have generated a germline mutation in the mouse Tulp3 gene by homologous recombination. Embryos homozygous for the Tulp3 mutant allele exhibit failure of neural tube closure, and die by embryonic day 14.5. Failure of cranial neural tube closure coincided with increased neuroepithelial apoptosis specifically in the hindbrain and the caudal neural tube. In addition, the number of betaIII-tubulin positive cells is significantly decreased in the hindbrain of Tulp3(-/-) embryos. These results suggest that disruption of the Tulp3 gene affects the development of a neuronal cell population. Interestingly, some Tulp3 heterozygotes also manifest embryonic lethality with neuroepithelial cell death. Our results demonstrate that the Tulp3 gene is essential for embryonic development in mice.

Animals↗
PubMed2004

A trisomy 2 fetus with severe neural tube defects and other abnormalities.

Examination of an abortus from a 13 week miscarriage revealed a fetus of around 9 weeks developmental age with multiple abnormalities including microcephaly, iniencephaly and encephalocele continuous with cervical and thoracic spina bifida, whose karyotype was subsequently shown to be 47,XY, + 2.

Abnormalities, Multiple↗
PubMed1985

The role of periconceptional vitamin supplementation in the prevention of neural tube defects.

The British Isles multicentre study of periconceptional vitamin supplementation in women with a previous infant with an NTD has demonstrated an apparent beneficial effect in reducing risk of recurrence of an NTD. In Northern Ireland, a similar significant effect has been observed with a reduction of the recurrence risk from 5.2% in unsupplemented to 0.7% in fully supplemented women. The problems and implications of periconceptional vitamin supplementation in the prevention of NTDs are discussed.

Clinical Trials as Topic↗
PubMed1990

The pattern of congenital renal anomalies associated with neural tube defects.

It has been suggested that there may be a consistent pattern of congenital renal abnormalities related to a particular sensory level in patients with spina bifida. In assessing 163 spina bifida patients by reviewing intravenous pyelograms (without knowledge of clinical details) and correlating with the level of sensory loss (without knowledge of radiological findings), the prevalence of renal abnormalities was similar, but a consistent pattern was not confirmed.

Child↗
PubMed1991

A rare neural tube defect: a report of eight cases in Pakistan.

Iniencephaly is a rare congenital malformation of central nervous system and axial skeleton. Eight cases were seen in the Department of Obstetrics and Gynaecology, Jinnah Post-Graduate Medical Centre over a 12 month period constituting 0.1% of all deliveries conducted, the estimated frequency being 1: 850 deliveries. The purpose of this paper is to describe our cases and to report several considerations which might influence the antenatal diagnosis of this rare anomaly.

Adult↗
PubMed1982

Studies of an alpha-fetoprotein assay using dry blood-spot samples to be used for the detection of fetal neural tube defects.

We modified the Pharmacia serum alpha-fetoprotein (AFP) kit to enable its use with dry blood-spots on filter paper. Reference values were established for blood from 253 women in the 16th to 18th weeks of gestation. The result by the present technique in a woman with a confirmed anencephalic fetus was elevated, and in agreement with the results of AFP assays in serum and amniotic fluid. Blood AFP was stable on dried filter paper sent by mail.

Female↗
PubMed1988

[Neural tube defect associated with thoracoabdominal evisceration].

The accompanying central nervous system (CNS) malformation in thoracoabdominal evisceration syndrome has up till now not been given much attention. Two such cases in the early fetal stages are demonstrated here, in which CNS anomalies were severely dysraphic. It is possible that babies with the evisceration syndrome are less capable of surviving when the CNS complication is severe. This may well be the reason why CNS complication of the syndrome has seldom been observed.

Abdomen↗
PubMed1986

Seasonal variation of neural tube defects in Newfoundland and elsewhere.

In Newfoundland, babies with anencephaly are conceived most often in January, and those with spina bifida in August. These and previous observations suggest that (1) seasonal fluctuations are greatest when the population frequency is neither very high nor very low, and that (2) the peak season for conception of anencephalic babies may occur in any season except August-November in various populations, whereas for spina bifida seasonal peaks are confined almost exclusively to May-August.

Anencephaly↗
PubMed1994

Investigation of folate intake and metabolism in women who have had two pregnancies complicated by neural tube defects.

OBJECT: To investigate folate intake and blood levels of folic acid and vitamin C in women with and without a history of two NTD-affected pregnancies and to measure the increase in serum folate following ingestion of orange juice. SUBJECTS: Sixteen women with a history of two NTD-affected infants and 16 controls with no such history, none of whom were either pregnant or taking vitamin supplements. The orange juice loading test was carried out on eight matched pairs. MAIN OUTCOME MEASURES: Dietary intake of folate was assessed by questionnaire and blood levels of folate and vitamin C were measured. RESULTS: There was no evidence of decreased intake of folate in subjects who had had two NTD-affected pregnancies. In controls, both serum and red cell folate showed significant correlation with dietary folate, while in subjects there was no such correlation. Subjects also had smaller increases in serum folate following an oral load than controls, although the differences were not significant. CONCLUSION: Women who have had two NTD-affected pregnancies may have defective folate metabolism. Further investigations on short term utilisation of ingested food folates in these women are required.

Adult↗

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