Neural tube defects

Association of neural tube defects in children of mothers with MTHFR 677TT genotype and abnormal carbohydrate metabolism risk: a case-control study

N. M. Cadenas-Benitez, Yanes-Sosa, F., Gonzalez-Meneses, A., Cerrillos, L., Acosta, D., Praena-Fernandez, J. M., Neth, O., I. de Terreros, G., and Ybot-González, P., Association of neural tube defects in children of mothers with MTHFR 677TT genotype and abnormal carbohydrate metabolism risk: a case-control study, vol. 13, pp. 2200-2207, 2014.

Abnormalities in maternal folate and carbohydrate metabolism have both been shown to induce neural tube defects (NTD) in humans and animal models. However, the relationship between these two factors in the development of NTDs remains unclear. Data from mothers of children with spina bifida seen at the Unidad de Espina Bífida del Hospital Infantil Virgen del Rocío (case group) were compared to mothers of healthy children with no NTD (control group) who were randomly selected from patients seen at the outpatient ward in the same hospital.

Genetic diversity of stem cells and their functional impact on the development of neural tube defects in Eastern population of India

A. K. Saxena, Pandey, S., and Pandey, L. K., Genetic diversity of stem cells and their functional impact on the development of neural tube defects in Eastern population of India, vol. 12, pp. 2380-2390, 2013.

Anencephaly and myelomeningocele are the 2 most common forms of neural tube defects (NTDs). During embryogenesis large numbers of extrinsic and intrinsic factors are responsible for the closing of the neural tube. "Stem cells" maintain the pluripotency during differentiation of 3 germ layers, including the neural ectoderm. We examined the role of Oct4, Nanog3, and Sox2 genes in the etiopathology of NTDs in an eastern Indian population using PCR-based DNA analysis. The highest frequency (16%) of complete loss of the Sox2 gene was found in NTDs.

Prevalence of cystathionine beta synthase gene mutation 852Ins68 as a possible risk for neural tube defects in eastern India

A. K. Saxena, Gupta, J., Pandey, S., Gangopadhaya, A. N., and Pandey, L. K., Prevalence of cystathionine beta synthase gene mutation 852Ins68 as a possible risk for neural tube defects in eastern India, vol. 10, pp. 2424-2429, 2011.

Cystathionine beta synthase gene (CβS) catalyzes the condensation of homocysteine with serine, forming cystathionine by the transsulfuration pathway. Disruption of CβS enzyme activity due to defective folic acid metabolism increases the risk factor for neural tube defects. We evaluated the CβS gene mutation in 25 children with neural tube defects (NTDs), including lumbosacral and thoracic myelomeningocele and open NTDs and mothers of cases, along with 25 healthy children and their mothers, serving as controls.

Incidence of neural tube defects in Afyonkarahisar, Western Turkey

S. T. Onrat, Seyman, H., and Konuk, M., Incidence of neural tube defects in Afyonkarahisar, Western Turkey, vol. 8, pp. 154-161, 2009.

The incidence of neural tube defects is higher in Turkey compared to that of developed countries. To prevent congenital malformations, understanding of the current status is necessary, which should be followed by public-based activities. We examined the incidence rate of neural tube defects (NTDs) in Afyonkarahisar. According to the records of the Department of Pediatrics, Zubeyde Hanım Hospital for Children’s and Women’s Health in Afyonkarahisar, the total number of births was 8631 during 2003 and 2004. Sixty-three babies with anomalies were identified in the early postnatal period.

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