Prevalence of Neural Tube Defects (NTDs) In And Around Varanasi Region: Some Observations

2021 ◽  
Author(s):  
Vaibhav Pandey ◽  
Surendra Kumar Pandey ◽  
Praveen Kumar Tiwari ◽  
Pragati Shakya ◽  
Shashank Shekhar Jha ◽  
...  
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects ◽  
Birth Defect ◽  
Neural Tube Closure ◽  
The World ◽  
Typical Type ◽  
Males And Females ◽  
One Year ◽  
Congenital Disabilities ◽  
Tube Closure

Abstract Congenital anomalies are one of the primary causes of infant mortality and disability in the world. Neural Tube Defects (NTDs) are the most typical type of birth defect resulting from the failure of Neural tube closure. In this retrospective hospital-based study, the data of the children affected byneural tube defects (NTDs) were analyzed. Prevalence of Hydrocephalous, Myelomeningocele (MMC), Encephalocele, Lipo MMC, Meningocele, Spina Bifida Occulta among children with more or less than one year of age and their occurrence in males and females was studied. The frequency of occurrence of cases of neural tube defects was significantly less among all the congenital disabilities, i.e., 5% of total cases studied. The prevalence of myelomeningocele, hydrocephalous, and Encephalocele was higher than other types of NTDs. This study concludes that the prevalence of hydrocephalous and myelomeningocele in this area raises a concern to have more research of their etiology.

Neural Tube Defects: Prevention by Vitamin Supplements

PEDIATRICS ◽  
1982 ◽  
Vol 69 (4) ◽  
pp. 498-499
Author(s):  
R. W. Smithells
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects ◽  
Birth Defect ◽  
Epidemiologic Study ◽  
Neural Tube Closure ◽  
Additive Effects ◽  
Vitamin Supplements ◽  
Tube Closure

Neural tube defects (NTD) have been the object of more intense epidemiologic study than any other kind of birth defect. This is in part because of their ready recognition at birth (and, in recent years, before birth) and in part because their consequences are usually catastrophic: they kill or they cripple. Regarding their cause, no single genetic or environmental agent has been identified (or is likely to be) and a multifactorial basis is assumed. If failure of neural tube closure results from the additive effects of several adverse factors, removal or correction of any one might shift the developmental balance across the threshold from NTD to normality.

scholarly journals A case report of triple neural tube defect: revisiting the multisite closure theory

BMC Surgery ◽  
2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Jayant Kumar Yadav ◽  
Ahtesham Khizar ◽  
Pradhumna Kumar Yadav ◽  
Ghulam Mustafa ◽  
Sajid Nazir Bhatti
Keyword(s):  
Case Report ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Neural Tube Defect ◽  
Neurological Outcome ◽  
Neural Tube Closure ◽  
Good Neurological Outcome ◽  
Case Presentation ◽  
Tube Closure ◽  
Closure Theory

Abstract Background Triple neural tube defects are rare. To the author’s knowledge, there are only four reported cases available in the literature up to date. Controversies exist with regards to the development of neural tube defects. We revisit the multisite closure theory and try to explain the mechanism of neural tube defects in our case. Case presentation We report a case of one-month-old baby boy who presented to us with three distinct neural tube defects. He had occipital and cervical encephaloceles along with thoracolumbar myelomeningocele accompanied by syrinx and mild hydrocephalus. All the three defects were surgically corrected with good neurological outcome. Conclusion In the multisite model of human neural tube closure, there are only two fusion sites and two neuropores unlike in mouse. This can explain the origin of open neural tube defects including anencephaly and myelomeningocele (as in our case) but cannot account for the development of encephalocele, which appears to be a post neurulation defect.

scholarly journals Inositol, neural tube closure and the prevention of neural tube defects

2017 ◽  
Vol 109 (2) ◽  
pp. 68-80 ◽  
Author(s):  
Nicholas D.E. Greene ◽  
Kit-Yi Leung ◽  
Andrew J. Copp
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects ◽  
Neural Tube Closure ◽  
Tube Closure

scholarly journals Reduced H3K27me3 leads to abnormal Hox gene expression in neural tube defects

2019 ◽  
Vol 12 (1) ◽  
Author(s):  
Juan Yu ◽  
Lei Wang ◽  
Pei Pei ◽  
Xue Li ◽  
Jianxin Wu ◽  
...  
Keyword(s):  
Gene Expression ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Epigenetic Modification ◽  
Embryonic Stem ◽  
Neural Tube Closure ◽  
Genome Wide ◽  
H3k27me3 Level ◽  
Chromatin Immunoprecipitation Sequencing ◽  
Tube Closure

Abstract Background Neural tube defects (NTDs) are severe, common birth defects that result from failure of normal neural tube closure during early embryogenesis. Accumulating strong evidence indicates that genetic factors contribute to NTDs etiology, among them, HOX genes play a key role in neural tube closure. Although abnormal HOX gene expression can lead to NTDs, the underlying pathological mechanisms have not fully been understood. Method We detected that H3K27me3 and expression of the Hox genes in a retinoic acid (RA) induced mouse NTDs model on E8.5, E9.5 and E10.5 using RNA-sequencing and chromatin immunoprecipitation sequencing assays. Furthermore, we quantified 10 Hox genes using NanoString nCounter in brain tissue of fetuses with 39 NTDs patients including anencephaly, spina bifida, hydrocephaly and encephalocele. Results Here, our results showed differential expression in 26 genes with a > 20-fold change in the level of expression, including 10 upregulated Hox genes. RT-qPCR revealed that these 10 Hox genes were all upregulated in RA-induced mouse NTDs as well as RA-treated embryonic stem cells (ESCs). Using ChIP-seq assays, we demonstrate that a decrease in H3K27me3 level upregulates the expression of Hox cluster A–D in RA-induced mouse NTDs model on E10.5. Interestingly, RA treatment led to attenuation of H3K27me3 due to cooperate between UTX and Suz12, affecting Hox gene regulation. Further analysis, in human anencephaly cases, upregulation of 10 HOX genes was observed, along with aberrant levels of H3K27me3. Notably, HOXB4, HOXC4 and HOXD1 expression was negatively correlated with H3K27me3 levels. Conclusion Our results indicate that abnormal HOX gene expression induced by aberrant H3K27me3 levels may be a risk factor for NTDs and highlight the need for further analysis of genome-wide epigenetic modification in NTDs.

scholarly journals Formate rescues neural tube defects caused by mutations in Slc25a32

2018 ◽  
Vol 115 (18) ◽  
pp. 4690-4695 ◽  
Author(s):  
Jimi Kim ◽  
Yunping Lei ◽  
Jin Guo ◽  
Sung-Eun Kim ◽  
Bogdan J. Wlodarczyk ◽  
...  
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects ◽  
Human Subjects ◽  
Neural Tube Closure ◽  
Health Concern ◽  
Global Public Health ◽  
Loss Of Function ◽  
Public Health Concern ◽  
Tube Closure

Periconceptional folic acid (FA) supplementation significantly reduces the prevalence of neural tube defects (NTDs). Unfortunately, some NTDs are FA resistant, and as such, NTDs remain a global public health concern. Previous studies have identified SLC25A32 as a mitochondrial folate transporter (MFT), which is capable of transferring tetrahydrofolate (THF) from cellular cytoplasm to the mitochondria in vitro. Herein, we show that gene trap inactivation of Slc25a32 (Mft) in mice induces NTDs that are folate (5-methyltetrahydrofolate, 5-mTHF) resistant yet are preventable by formate supplementation. Slc25a32gt/gt embryos die in utero with 100% penetrant cranial NTDs. 5-mTHF supplementation failed to promote normal neural tube closure (NTC) in mutant embryos, while formate supplementation enabled the majority (78%) of knockout embryos to complete NTC. A parallel genetic study in human subjects with NTDs identified biallelic loss of function SLC25A32 variants in a cranial NTD case. These data demonstrate that the loss of functional Slc25a32 results in cranial NTDs in mice and has also been observed in a human NTD patient.

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