斯洛伐克和捷克共和国的无脑畸形:胚胎发育、风险因素、流行病学和预防方法。

IF 1.5 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Bratislava Medical Journal-Bratislavske Lekarske Listy Pub Date : 2024-01-01 DOI:10.4149/BLL_2024_62
Vanda Risova, Jan Miertus, Petra Otapkova, Livia Gajdosova, Vladimir Jakus, Stefan Polak
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引用次数: 0

摘要

无脑畸形是一种致命的中枢神经系统畸形,属于神经管缺陷(NTD)。它被认为是最常见的先天性 NTD,特点是同时缺失大脑和颅顶的大部分。这种畸形发生在受精后的第 23 到 26 天,原因是神经管颅端闭合不全。许多遗传、表观遗传和非遗传因素(营养、环境和地理因素、父母的社会经济状况)都是造成这种疾病的病因。尽管在治疗和预防措施方面取得了重大进展,但 NTD 仍给患者和整个社会带来巨大的健康和经济负担。本研究旨在探讨 2012 年至 2020 年间斯洛伐克与捷克共和国的无脑畸形发病率对比情况。作者试图阐明与捷克共和国相比,斯洛伐克无脑畸形发病率较高的原因,探讨斯洛伐克无脑畸形以男性为主的情况,并调查斯洛伐克采用的预防标准是否与其他国家不同(表1,图2,参考文献129)。关键词:神经管缺陷、无脑畸形、风险因素、叶酸、食品添加剂。
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Anencephaly in Slovakia and Czech Republic: embryogenesis, risk factors, epidemiology and preventative approaches.

Anencephaly, a fatal anomaly of the central nervous system, belongs to the group of defects of the neural tube (NTDs). It is considered the most common congenital NTD, characterized by concurrent absence of a significant portion of the brain and cranial vault. This deformity occurs between days 23 and 26 after fertilization due to improper closure of the neural tube at its cranial end. Many genetic, epigenetic, and non-genetic factors (nutritional, environmental and geographical factors, parental socioeconomic status) contribute to the etiology of this disease. Despite significant advances in treatment and preventive measures, NTDs continue to pose a significant health and financial burden on patients and society as a whole. This study aimed to examine the incidence of anencephaly in Slovakia compared to the Czech Republic between 2012 and 2020. The authors seek to elucidate the reasons behind the higher incidence of this disease in Slovakia as compared to the Czech Republic, explore the male predominance of anencephaly in Slovakia, and investigate whether the prevention standards used in Slovakia differ from those employed in other countries (Tab. 1, Fig. 2, Ref. 129). Keywords: neural tube defects, anencephaly, risk factors, folic acid, food fortification.

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来源期刊
CiteScore
2.60
自引率
0.00%
发文量
185
审稿时长
3-8 weeks
期刊介绍: The international biomedical journal - Bratislava Medical Journal – Bratislavske lekarske listy (Bratisl Lek Listy/Bratisl Med J) publishes peer-reviewed articles on all aspects of biomedical sciences, including experimental investigations with clear clinical relevance, original clinical studies and review articles.
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