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了解先天性腹裂的新线索。胚胎学、发病机制和流行病学。

New clues to understand gastroschisis. Embryology, pathogenesis and epidemiology.

机构信息

Universidad del Valle, Facultad de Salud, Escuela de Ciencias Básicas, Departamento de Morfología, Cali, Colombia.

出版信息

Colomb Med (Cali). 2021 Sep 30;52(3):e4004227. doi: 10.25100/cm.v52i3.4227. eCollection 2021 Jul-Sep.

DOI:10.25100/cm.v52i3.4227
PMID:35431359
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8973314/
Abstract

gastroschisis is a congenital structural defect of the abdominal wall, most often to the right of the umbilicus, through which the abdominal viscera protrude. Its developmental, etiological and epidemiological aspects have been a hot topic of controversy for a long time. However, recent findings suggest the involving of genetic and chromosomal alterations and the existence of a stress-inducing pathogenetic pathway, in which risk factors such as demographic and environmental ones can converge. To expand the frontier of knowledge about a malformation that has showed a growing global prevalence, we have conducted a review of the medical literature that gathers information on the embryonic development of the ventral body wall, the primitive intestine, and the ring-umbilical cord complex, as well as on the theories about its origin, pathogenesis and recent epidemiological evidence, for which we consulted bibliographic databases and standard search engines.

摘要

先天性腹壁结构缺陷,脐旁右侧多见,内脏膨出。其发生发展、病因及流行病学方面一直是争议的热点。但最近的研究提示涉及遗传和染色体改变,存在一个应激诱导的发病途径,其中人口统计学和环境等危险因素可能汇聚。为了扩展对这种畸形的认识,我们对医学文献进行了综述,收集了有关腹侧体壁、原始肠和脐环复合体的胚胎发育,以及其起源、发病机制和最近的流行病学证据的信息,为此我们查阅了文献数据库和标准搜索引擎。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e02b/8973314/997f71339dff/1657-9534-cm-52-03-e4004227-gf2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e02b/8973314/7dab5f8cef42/1657-9534-cm-52-03-e4004227-gf1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e02b/8973314/997f71339dff/1657-9534-cm-52-03-e4004227-gf2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e02b/8973314/7dab5f8cef42/1657-9534-cm-52-03-e4004227-gf1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e02b/8973314/997f71339dff/1657-9534-cm-52-03-e4004227-gf2.jpg

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1
New clues to understand gastroschisis. Embryology, pathogenesis and epidemiology.了解先天性腹裂的新线索。胚胎学、发病机制和流行病学。
Colomb Med (Cali). 2021 Sep 30;52(3):e4004227. doi: 10.25100/cm.v52i3.4227. eCollection 2021 Jul-Sep.
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Teratogens inducing congenital abdominal wall defects in animal models.在动物模型中诱导先天性腹壁缺陷的致畸剂。
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引用本文的文献

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Genetics and Genomics of Gastroschisis, Elucidating a Potential Genetic Etiology for the Most Common Abdominal Defect: A Systematic Review.腹裂的遗传学与基因组学:阐明最常见腹部缺陷的潜在遗传病因——一项系统综述
J Dev Biol. 2024 Dec 19;12(4):34. doi: 10.3390/jdb12040034.
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Pentalogy of Cantrell Marked With Ectopia Cordis, Gastroschisis, and Cystic Hygroma in the First Trimester: A Rare Case.

本文引用的文献

1
Gastroschisis: A State-of-the-Art Review.腹裂:最新综述
Children (Basel). 2020 Dec 17;7(12):302. doi: 10.3390/children7120302.
2
Association of Oxidative Stress on Pregnancy.氧化应激与妊娠的关系。
Oxid Med Cell Longev. 2020 Sep 15;2020:6398520. doi: 10.1155/2020/6398520. eCollection 2020.
3
Gastroschisis prevalence substantially decreased from 2009 through 2018 after a 3-fold increase from 1997 to 2008.自 1997 年至 2008 年增加了两倍之后,2009 年至 2018 年,先天性腹裂的发病率大幅下降。
孕早期伴有心脏异位、腹裂和囊性水瘤的坎特雷尔五联症:1例罕见病例
Cureus. 2024 Sep 13;16(9):e69360. doi: 10.7759/cureus.69360. eCollection 2024 Sep.
4
Descriptive epidemiology of gastroschisis in China from 2007 to 2020: a nationwide surveillance-based study.2007 年至 2020 年中国先天性腹裂的描述性流行病学:一项基于全国监测的研究。
BMC Pediatr. 2024 Sep 14;24(1):584. doi: 10.1186/s12887-024-05056-8.
5
County-Level Atrazine Use and Gastroschisis.县级阿特拉津使用与腹裂。
JAMA Netw Open. 2024 May 1;7(5):e2410056. doi: 10.1001/jamanetworkopen.2024.10056.
6
Prenatal cannabis use disorder and gastroschisis in California, 2007-19.加利福尼亚州 2007-19 年的产前大麻使用障碍与腹裂。
Int J Epidemiol. 2024 Feb 14;53(2). doi: 10.1093/ije/dyae042.
7
Case Report: foetal gastroschisis with ideal pregnancy outcomes under multidisciplinary treatment management.病例报告:多学科治疗管理下胎儿腹裂并获得理想妊娠结局
Front Pediatr. 2024 Feb 28;12:1358856. doi: 10.3389/fped.2024.1358856. eCollection 2024.
8
Embryology of the Abdominal Wall and Associated Malformations-A Review.腹壁胚胎学及相关畸形——综述
Front Surg. 2022 Jul 7;9:891896. doi: 10.3389/fsurg.2022.891896. eCollection 2022.
J Pediatr Surg. 2020 Dec;55(12):2640-2641. doi: 10.1016/j.jpedsurg.2020.03.010. Epub 2020 Mar 24.
4
Population-based birth defects data in the United States, 2012-2016: A focus on abdominal wall defects.美国基于人群的出生缺陷数据,2012-2016 年:重点关注腹壁缺陷。
Birth Defects Res. 2019 Nov 1;111(18):1436-1447. doi: 10.1002/bdr2.1607. Epub 2019 Oct 23.
5
Shared genomic segments in high-risk multigenerational pedigrees with gastroschisis.具有先天性腹壁裂的高危多代家系中的共享基因组片段。
Birth Defects Res. 2019 Dec 1;111(20):1655-1664. doi: 10.1002/bdr2.1567. Epub 2019 Aug 5.
6
Maternal nutrient intake and fetal gastroschisis: A case-control study.母体营养摄入与胎儿腹裂:病例对照研究。
Am J Med Genet A. 2019 Aug;179(8):1535-1542. doi: 10.1002/ajmg.a.61265. Epub 2019 Jun 18.
7
Gastroschisis Following Treatment with High-Dose Methimazole in Pregnancy: A Case Report.孕期大剂量甲巯咪唑治疗后发生腹裂:1例报告
Drug Saf Case Rep. 2019 May 23;6(1):5. doi: 10.1007/s40800-019-0099-2.
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Bioinformatic Analysis of Gene Variants from Gastroschisis Recurrence Identifies Multiple Novel Pathogenetic Pathways: Implication for the Closure of the Ventral Body Wall.腹裂复发相关基因变异的生物信息学分析鉴定多个新的发病机制途径:对腹前壁关闭的启示。
Int J Mol Sci. 2019 May 9;20(9):2295. doi: 10.3390/ijms20092295.
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Risk of gastroschisis with maternal genitourinary infections: the US National birth defects prevention study 1997-2011.母体泌尿生殖系统感染与腹裂风险:1997-2011 年美国国家出生缺陷预防研究。
BMJ Open. 2019 Mar 30;9(3):e026297. doi: 10.1136/bmjopen-2018-026297.
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An evolutionary and developmental biology approach to gastroschisis.先天性腹裂的进化与发育生物学研究方法。
Birth Defects Res. 2019 Apr 1;111(6):294-311. doi: 10.1002/bdr2.1481. Epub 2019 Feb 28.