耳廓轻度形态发生错误:流行病学分析、局部相关性及临床意义

David Bader , Marta Grun , Shlomit Riskin-Mashiah , Andrei Grunfeld , Amir Kogelman , Irena Chistyakov , Paul Merlob
{"title":"耳廓轻度形态发生错误:流行病学分析、局部相关性及临床意义","authors":"David Bader ,&nbsp;Marta Grun ,&nbsp;Shlomit Riskin-Mashiah ,&nbsp;Andrei Grunfeld ,&nbsp;Amir Kogelman ,&nbsp;Irena Chistyakov ,&nbsp;Paul Merlob","doi":"10.1016/j.anngen.2004.02.007","DOIUrl":null,"url":null,"abstract":"<div><p><em><strong>Background. –</strong></em> The mild errors or morphogenesis (MEMs) are well known and accepted markers of alterations in embryonic development with predictive value in identification of major malformations, specific genetic syndromes, metabolic and psychiatric disease and childhood malignancy.</p><p><em><strong>Objective. –</strong></em> The goal of this study was to assess the contribution of auricular MEMs as part of total MEMs in an effort to study the factors influencing the different potential informative value of different types of MEMs and their variability with perinatal factors.</p><p><em><strong>Method. –</strong></em> Three thousand one hundred and seven consecutive born neonates were screened for auricular and non-auricular MEMs, inregistered concomitantly with major malformations and postural defects. The study was accomplished by our specially designed computerized program in a relatively large nonhomogeneous ethnic population, in the metropolitan area of Haifa, Israel.</p><p><em><strong>Results. –</strong></em> The general prevalence of auricular MEMs was 43.1%; the most frequent pathogenetic type was the postural one. Significantly higher rates of auricular MEMs were associated with male sex, small- and large-for-gestational age, IVF pregnancy, triplet pregnancy, maternal diabetes and parental consanguinity.</p><p><em><strong>Conclusion. –</strong></em> We conclude that the presence, number, and association or concomitance of auricular MEMs in the same neonate may have important clinical, diagnostic, pathogenetic, screening, and therapeutic value.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2004-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2004.02.007","citationCount":"9","resultStr":"{\"title\":\"Auricular mild errors of morphogenesis: epidemiological analysis, local correlations and clinical significance\",\"authors\":\"David Bader ,&nbsp;Marta Grun ,&nbsp;Shlomit Riskin-Mashiah ,&nbsp;Andrei Grunfeld ,&nbsp;Amir Kogelman ,&nbsp;Irena Chistyakov ,&nbsp;Paul Merlob\",\"doi\":\"10.1016/j.anngen.2004.02.007\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p><em><strong>Background. –</strong></em> The mild errors or morphogenesis (MEMs) are well known and accepted markers of alterations in embryonic development with predictive value in identification of major malformations, specific genetic syndromes, metabolic and psychiatric disease and childhood malignancy.</p><p><em><strong>Objective. –</strong></em> The goal of this study was to assess the contribution of auricular MEMs as part of total MEMs in an effort to study the factors influencing the different potential informative value of different types of MEMs and their variability with perinatal factors.</p><p><em><strong>Method. –</strong></em> Three thousand one hundred and seven consecutive born neonates were screened for auricular and non-auricular MEMs, inregistered concomitantly with major malformations and postural defects. The study was accomplished by our specially designed computerized program in a relatively large nonhomogeneous ethnic population, in the metropolitan area of Haifa, Israel.</p><p><em><strong>Results. –</strong></em> The general prevalence of auricular MEMs was 43.1%; the most frequent pathogenetic type was the postural one. Significantly higher rates of auricular MEMs were associated with male sex, small- and large-for-gestational age, IVF pregnancy, triplet pregnancy, maternal diabetes and parental consanguinity.</p><p><em><strong>Conclusion. –</strong></em> We conclude that the presence, number, and association or concomitance of auricular MEMs in the same neonate may have important clinical, diagnostic, pathogenetic, screening, and therapeutic value.</p></div>\",\"PeriodicalId\":100089,\"journal\":{\"name\":\"Annales de Génétique\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2004-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1016/j.anngen.2004.02.007\",\"citationCount\":\"9\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Annales de Génétique\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S0003399504000115\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annales de Génétique","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0003399504000115","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 9

摘要

背景。-轻度错误或形态发生(MEMs)是众所周知和公认的胚胎发育改变的标记,在识别主要畸形,特定遗传综合征,代谢和精神疾病以及儿童恶性肿瘤方面具有预测价值。本研究的目的是评估耳部MEMs作为整体MEMs的一部分的贡献,以研究影响不同类型MEMs不同潜在信息价值的因素及其与围产期因素的差异。-连续对3307例伴有重大畸形和体位缺陷的新生儿进行耳部和非耳部MEMs筛查。这项研究是通过我们特别设计的计算机程序在以色列海法大都会区一个相对较大的非同质民族人口中完成的。-耳部MEMs的总患病率为43.1%;最常见的发病类型为体位性。男性、小胎龄和大胎龄、IVF妊娠、三胞胎妊娠、母亲糖尿病和父母有血缘关系与耳廓MEMs发生率显著升高有关。我们的结论是,同一新生儿耳廓MEMs的存在、数量、关联或伴随可能具有重要的临床、诊断、发病、筛查和治疗价值。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Auricular mild errors of morphogenesis: epidemiological analysis, local correlations and clinical significance

Background. – The mild errors or morphogenesis (MEMs) are well known and accepted markers of alterations in embryonic development with predictive value in identification of major malformations, specific genetic syndromes, metabolic and psychiatric disease and childhood malignancy.

Objective. – The goal of this study was to assess the contribution of auricular MEMs as part of total MEMs in an effort to study the factors influencing the different potential informative value of different types of MEMs and their variability with perinatal factors.

Method. – Three thousand one hundred and seven consecutive born neonates were screened for auricular and non-auricular MEMs, inregistered concomitantly with major malformations and postural defects. The study was accomplished by our specially designed computerized program in a relatively large nonhomogeneous ethnic population, in the metropolitan area of Haifa, Israel.

Results. – The general prevalence of auricular MEMs was 43.1%; the most frequent pathogenetic type was the postural one. Significantly higher rates of auricular MEMs were associated with male sex, small- and large-for-gestational age, IVF pregnancy, triplet pregnancy, maternal diabetes and parental consanguinity.

Conclusion. – We conclude that the presence, number, and association or concomitance of auricular MEMs in the same neonate may have important clinical, diagnostic, pathogenetic, screening, and therapeutic value.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
自引率
0.00%
发文量
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信