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分子遗传学与神经管缺陷:分子医学的最新进展与未来展望。

Molecular Genetics involved in Neural Tube Defects: Recent Advances and Future Prospective for Molecular Medicine.

机构信息

Department of Anatomy, AIIMS, Bhubaneswar, Odisha, India.

Additional Professor in Department of Anatomy, AIIMS, Bhubaneswar, Dumuduma, Odisha, India.

出版信息

Neurol India. 2020 Sep-Oct;68(5):1144-1150. doi: 10.4103/0028-3886.299136.

Abstract

BACKGROUND

Folic acid and multivitamin supplements ((FAMVS) and genetics involvement is one of the major roles in the development of neural tube defects (NTDs).

OBJECTIVE

Our prior aim and objective is to establish an unique guideline and helps the policy decision making for our country India and the World.

MATERIALS AND METHODS

We have collected the data through the literature from the World for their necessary action, rehabilitation part all objectively in PubMed/Medline, Scopous, Embase, Cochrane Review, Hinari, and Google scholar.

STATISTICAL ANALYSIS

Statistical analysis was performed with very simple and logistic statistics, percentage, mean, total as collection through the available software SPSS with new version 17.0.

RESULTS

The overall (70-95%) we find out those infants with neural tube defects (NTDs) associated with genes involvement and maternal vitamin intake (MVI). Before pregnancy relative risk (PRR) prior to non intake noted as 90% significantly reduced their risk of the NTDs. Now (40-60%) of the women of child-bearing age (CBA) don't use the folic acid intake and supplements (FAISs) in proper way in villages, urban, industrial and sewage areas. We find out that the genetic variants of the fourteen special reported genes, had the major risk factor (MRF) for the (NTDs) and associated abnormalities rate (AAR) within the developmental process in the human brain.

CONCLUSIONS

The (45-55%) people still having at ignorant zone, due to lack of education, genetic counseling, and awareness till date.

摘要

背景

叶酸和多种维生素补充剂(FAMVS)和遗传因素是神经管缺陷(NTDs)发展的主要因素之一。

目的

我们的首要目标是为我国印度和世界制定独特的指导方针,并为决策提供帮助。

材料和方法

我们通过文献从世界范围内收集数据,以便采取必要的行动,在PubMed/Medline、Scopous、Embase、Cochrane Review、Hinari 和 Google scholar 等数据库中客观地进行康复部分的所有内容。

统计分析

使用非常简单的逻辑统计、百分比、平均值和总数进行统计分析,通过最新版本 17.0 的可用软件 SPSS 进行收集。

结果

我们发现,总体而言(70-95%)与基因参与和母体维生素摄入(MVI)相关的神经管缺陷(NTDs)婴儿。在怀孕前,未摄入叶酸的相对风险(PRR)显著降低了 90%,从而降低了 NTDs 的风险。现在(40-60%)处于生育年龄(CBA)的女性在农村、城市、工业和污水地区没有正确使用叶酸摄入和补充剂(FAISs)。我们发现,在人类大脑发育过程中,这十四种特殊报告基因的遗传变异体是神经管缺陷(NTDs)和相关异常发生率(AAR)的主要危险因素(MRF)。

结论

由于缺乏教育、遗传咨询和意识,(45-55%)的人仍然处于无知状态。

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