{"title":"遗传学和缩略语","authors":"G. Corsello","doi":"10.7363/030251","DOIUrl":null,"url":null,"abstract":"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","PeriodicalId":51914,"journal":{"name":"Journal of Pediatric and Neonatal Individualized Medicine","volume":"3 1","pages":""},"PeriodicalIF":0.3000,"publicationDate":"2014-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Genetics and acronyms\",\"authors\":\"G. Corsello\",\"doi\":\"10.7363/030251\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"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\",\"PeriodicalId\":51914,\"journal\":{\"name\":\"Journal of Pediatric and Neonatal Individualized Medicine\",\"volume\":\"3 1\",\"pages\":\"\"},\"PeriodicalIF\":0.3000,\"publicationDate\":\"2014-10-03\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Pediatric and Neonatal Individualized Medicine\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.7363/030251\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Pediatric and Neonatal Individualized Medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.7363/030251","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"PEDIATRICS","Score":null,"Total":0}
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
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.