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杰罗姆·勒热纳(1926 - 1994):揭示先天性疾病与染色体异常之间联系的先驱。

Jérôme Lejeune (1926-1994): A Pioneer in Uncovering the Connection Between Congenital Conditions and Chromosomal Anomalies.

作者信息

Bertini Ilaria, Raimondi Costanza

机构信息

Law and Medical Ethics, Bios Centre, London, GBR.

Healthcare Surveillance and Bioethics, Università Cattolica del Sacro Cuore, Rome, ITA.

出版信息

Cureus. 2024 Dec 13;16(12):e75643. doi: 10.7759/cureus.75643. eCollection 2024 Dec.

Abstract

Jérôme Lejeune was a French physician and geneticist whose crucial contribution to the field of medicine was the discovery of an extra copy of chromosome 21 in those presenting with a range of physical and developmental anomalies known as Down syndrome. From this discovery on, the condition had a new name (trisomy 21) and a specific scientific explanation that left no room for discrimination against those affected and their parents. Lejeune promoted the idea that a medical doctor should hate the condition and love the patient: while working to find a cure for trisomy 21, Lejeune was also able to reassure his patients and their families and lead them out from under a long-standing stigma inflicted upon them. He was also considered an expert in nuclear radiation and its effects on human genetic material.

摘要

杰罗姆·勒热纳是一位法国医生和遗传学家,他在医学领域的关键贡献是发现患有一系列被称为唐氏综合征的身体和发育异常的人存在额外的一条21号染色体。基于这一发现,这种病症有了一个新名字(21三体综合征)以及一个具体的科学解释,这使得针对患者及其父母的歧视不再有立足之地。勒热纳倡导医生应该憎恶病症本身而关爱患者的理念:在努力寻找治疗21三体综合征方法的同时,勒热纳还能够安抚他的患者及其家人,带领他们摆脱长期以来加诸在他们身上的污名。他还被认为是核辐射及其对人类遗传物质影响方面的专家。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ec0d/11725334/31e5c512922c/cureus-0016-00000075643-i01.jpg

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