神经管畸形

评价神经管畸形、唐氏综合征和先天性心脏病三种出生缺陷的预防干预措施的效果、成本效果或成本效益。

To assess effectiveness , cost-effectiveness or cost-benefit of different prevention strategies for NTD , DS and CHD .

结论孕中期母血生化标志物是筛查胎儿染色体异常和神经管畸形的理想指标。

Conclusion : The biochemical substance of serum at medium-term pregnancy was an ideal signal in screening fetal chromosome abnormity and NTD .

叶酸对神经管畸形干预效果的Meta分析

Meta-analysis of effect of intervention with folic acid on neural tube defects

通过序列测定和同源性比较对这些差异表达基因进行了分析，然后通过Northern杂交方法进一步证实这些基因在高温致神经管畸形过程中的差异表达情况。

Sequence and homology analysis were made to these differentially expressed genes and Northern blot were performed to verify differential expression levels of these genes .

目的应用全基因组表达芯片研究山西吕梁地区神经管畸形（Neuraltubedefects，NTDs）胚胎脑组织中状念特异性表达基因；

Objective Screen differentially expressed genes of neural tube defects ( NTDs ) by cDNA microarray technique among the population of Shanxi Luliang .

c-myc和p53基因与高温致神经管畸形中细胞凋亡发生的相关关系的研究

Study of Relationship between C-myc , p53 Genes and Apoptosis Occured in neural tube defects caused by hyperthermia

JNK1/2通路蛋白及凋亡基因Caspase-3在高温致神经管畸形作用中的表达

Expressions of the JNK1 / 2 pathway and Caspase-3 in the development of neural tube defects caused by Hyperthermia

目的探讨叶酸及维生素C对高温引起的神经管畸形（NTD）的保护作用。

Objective To explore the the roles of folic acid and vitamin C in neural tube defect ( NTD ) induced by hyperthermia .

方法：121例神经管畸形患儿均经X线、MRI等检查确诊，同时对其发病情况进行调查。

Methods : 121 cases of children with neural tube defects were undertaken X-ray and MRI to diagnose , and investigate their state of illness and the related factors simultaneously .

磷酸化JNK在高温致神经管畸形中的表达及其意义研究

Study of expression of P-JNK in the development of neural tube defects caused by hyperthermia

MTHFR基因突变与神经管畸形关系的病例对照研究

A Case-control Study of the Association between MTHFR Gene Mutation and Neural Tube Defects

结论：过量RA引起的RA受体α和RA受体βmRNA表达水平的变化与RA致金黄地鼠神经管畸形相关。

Conclusion : The changes of RAR α mRNA and RAR β mRNA expression induced by excessive RA are correlated with the neural tube defects of golden hamster induced by RA .

在高温致神经管畸形大鼠中MAPKS信号传导通路的作用研究

Study on the role of MAPKS signal transduction pathway of high temperature-induced neural tube defects in rats

目的分析中国高低发区神经管畸形（NTDs）的流行病学分布特点。

Objective To describe the epidemiology of neural tube defects ( NTDs ) in high-and low-prevalence areas of China .

近年来，通过对神经管畸形小鼠的研究表明，平面细胞极化信号通路（Planarcellpolarity，PCP）中的基因的敲除对神经管的闭合起到重要作用。

Recently , more and more research in mouse models of neural-tube defects indicated that nearly all of the genes involved in planar cell polarity ( PCP ) pathway play an important role in neural tube closure .

神经管畸形（NTD）高危孕妇42例，筛出率2·66%。

42 cases which have high risk of neural tube defects ( NTD ), screening rate : 2.66 % among the 1580 cases .

目的探讨北方乡村妇女亚甲基四氢叶酸还原酶（MTHFR）基因多态性与神经管畸形的关系。

Objective To explore relationship between methylenetetra hydrofolate reductase ( MTHFR ) polymorphism and neural tube defects ( NTDs ) of women in the northern countryside .

CHD发生率在城市地区一直高居首位，在农村地区仅次于神经管畸形，位于第二位，给家庭和社会造成严重的经济和精神等方面的负担。

At present , the incidence of CHD is still ranked first in urban areas , which rank only second to neural tube malformation in rural areas . CHD brings severe economic , spiritual and other burdens to the society and family .

本文旨在研究定位转新基因（HCY-2）与神经管畸形发生的时间-效应关系及可能的作用机理。

The time effect relationship between positional transfered novel gene ( HCY2 ) and neural tube teratogenesis , and their possible mechanisms were studied .

目的探讨检测孕妇血清标志物AFP、freeβ-HCG对孕中期胎儿染色体异常、神经管畸形（NTD）为主先天缺陷的产前筛查效果。

OBJECTIVE Investigate the pre-pregnancy screening effect of the blood serum indictor such as AFP and Free β - HCG on birth defect mainly as abnormality of chromosome and Neural Tube Deformity ( NDT ) in fetus on the middle stage of pregnancy .

农村出生缺陷发生率（16.35‰）高于城市（7.37‰），两者有显著性差异（P0.01）。皖北地区神经管畸形居首位；

The incidence rate of neural tube defect ranked the first in the north of Anhui and extremitas malformation occurred commonly in the other parts . The incidence of birth defects , was higher in rural areas ( 16.35 ‰) than in cities ( 7.37 ‰) .

目的探讨预先服用灵芝孢子在降低维甲酸诱导胚胎小鼠发生神经管畸形过程中对依赖细胞周期蛋白激酶4（cyclindependentproteinkinase4，Cdk4）表达的影响。

Objective To explore the effects of ganoderma spores on the cyclin dependent protein kinase 4 ( Cdk4 ) expression in preventing embryonic neural tube defects ( NTDs ) induced by retinoic acid in pregnant mice .

本研究旨在探讨高温致神经管畸形（NTD）中巢蛋白（nestin）的表达规律及多种维生素和微量元素对NTD的保护作用。

The aim of the present study is to explore the expression of nestin in the neuroepithelia of embryos with neural tube defect ( NTD ) induced by hyperthermia , and to observe the protective roles of vitamins and microelements in the development of NTD .

目的对神经管畸形（NTDs）发病危险和还原叶酸载体基因（RFC1）A80G多态性进行关联研究，为寻找NTDs的遗传易感标志物提供流行病学依据。

Objective To study the association between reduced folate carrier gene ( RFC1 A80G ) polymorphism and the risk for child with neural tube defects ( NTDs ), and to provide epidemiological evidence for the existence of NTDs genetic marker .

神经管畸形；病例对照研究；危险因素。

Neural tube defects ; Case control study ; Risk factors .

中国是已知的神经管畸形高发区。

China is the most NTDs prevalent area in the world .

神经管畸形产前诊断方法的研究进展

Research Advance of diagnostic Methods on Neural Tube Defect Before Birth

结果1.成功制作了神经管畸形大鼠胚胎模型。

Produce successfully rat embryos model of neural tube defects . 2 .

5,10-亚甲基四氢叶酸还原酶多态性和神经管畸形的病例对照研究

A case-control study of MTHFR polymorphism and neural tube defects

530例先天性神经管畸形的显微外科治疗

530 Cases of Microsurgery for the Congenital Neural Tube Deformans