遗传学和缩略语

IF 0.3 Q4 PEDIATRICS
G. Corsello
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引用次数: 0

摘要

在当今的全球社会中,疾病的命名法和术语必须被专家普遍接受。这句话在某些医学领域尤其正确,如遗传学,在这些领域,知识的进步近年来特别迅速。许多遗传疾病都是用发现和描述它们的医生(或医生)的名字来命名的。医生和专家的名字也经常被用来描述疾病的体征和症状,包括遗传综合症。更罕见的是,一种新的疾病与第一个被描述的病人同名。在某些情况下,作者明确提出了首字母缩略词,作为一种很好的方法来命名遗传疾病和综合征迅速传播开来。缩略语可以来源于主要体征和症状的首字母;在某些情况下,缩略词用其他类型的语义暗示再现一个词;一些首字母缩略词在他们的首字母列表中也显示数字,而另一些首字母缩略词也显示与疾病的生理病理有关的单词。近年来,人们提出用首字母缩写来标记多中心研究。第十届国际新生儿科研讨会论文集·卡利亚里(意大利)·2014年10月22日至25日·过去的十年,未来的十年在新生儿科客座编辑:Vassilios Fanos, Michele Mussap, Gavino Faa, Apostolos Papageorgiou
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genetics and acronyms
In a global society as the present, the nomenclature and terminology of diseases must be universally accepted among the specialists. This sentence is particularly true in some fields of medicine, as genetics, in which the progress of knowledge has been particularly rapid in last years. Many genetic disorders were termed using the names of the doctor (or the doctors) who discovered and described them. The name of doctors and specialist were also frequently used to term sign and symptoms of diseases, including genetic syndromes. More rarely, a new disease received the name of the first patients described. In some cases the authors clearly proposed acronyms, that rapidly diffused as a good method to term genetic diseases and syndromes. Acronyms can be originated from the initial of main signs and symptoms; in some instances the acronym reproduces a word with other kind of semantic suggestions; some acronyms in their list of initials show also numbers, while others show also the initial of the words related to the physiopathology of disease. In more recent years acronyms were proposed to mark multicentric studies. Proceedings of the 10 th International Workshop on Neonatology · Cagliari (Italy) · October 22 nd -25 th , 2014 ·  The last ten years, the next ten years in Neonatology Guest Editors: Vassilios Fanos, Michele Mussap, Gavino Faa, Apostolos Papageorgiou
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来源期刊
CiteScore
1.00
自引率
25.00%
发文量
0
审稿时长
12 weeks
期刊介绍: The Journal of Pediatric and Neonatal Individualized Medicine (JPNIM) is a peer-reviewed interdisciplinary journal which provides a forum on new perspectives in pediatric and neonatal medicine. The aim is to discuss and to bring readers up to date on the latest in research and clinical pediatrics and neonatology. Special emphasis is on developmental origin of health and disease or perinatal programming and on the so-called ‘-omic’ sciences. Systems medicine blazes a revolutionary trail from reductionist to holistic medicine, from descriptive medicine to predictive medicine, from an epidemiological perspective to a personalized approach. The journal will be relevance to clinicians and researchers concerned with personalized care for the newborn and child. Also medical humanities will be considered in a tailored way. Article submission (original research, review papers, invited editorials and clinical cases) will be considered in the following fields: fetal medicine, perinatology, neonatology, pediatrics, developmental programming, psychology and medical humanities.
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