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人类神经管多部位闭合失败的流行病学分析

Epidemiological analysis of multi-site closure failure of neural tube in humans.

作者信息

Martínez-Frías M L, Urioste M, Bermejo E, Sanchís A, Rodríguez-Pinilla E

机构信息

ECEMC, Hospital Universitario San Carlos Facultad de Medicina, Universidad Complutense, Madrid, Spain.

出版信息

Am J Med Genet. 1996 Dec 2;66(1):64-8. doi: 10.1002/(SICI)1096-8628(19961202)66:1<64::AID-AJMG14>3.0.CO;2-O.

Abstract

Van Allen et al. [Am J Med Genet 47:723-743, 1993] proposed that there is multi-site initiation of neural tube closure in humans, and that neural tube defects (NTD) represent the failure of one or more of 5 closure sites. We have studied from an epidemiologic perspective 774 liveborn infants with NTD by site of lesion following the multi-site classification proposed by Van Allen et al. [1993]. As predicted by these authors, we could classify all the cases with NTD by the multisite closure model. We have also estimated the prevalence of each failure closure site. This analysis indicates that not all the sites are affected with similar frequency.

摘要

范·艾伦等人[《美国医学遗传学杂志》47:723 - 743, 1993年]提出,人类神经管闭合存在多部位起始,神经管缺陷(NTD)代表5个闭合部位中一个或多个部位的失败。我们从流行病学角度,按照范·艾伦等人[1993年]提出的多部位分类方法,对774例患有神经管缺陷的活产婴儿进行了病变部位研究。正如这些作者所预测的,我们可以通过多部位闭合模型对所有神经管缺陷病例进行分类。我们还估计了每个闭合失败部位的患病率。该分析表明,并非所有部位受影响的频率都相似。

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