Article(id=1242136273633223234, tenantId=1146029695717560320, journalId=1146031591421210625, issueId=1242136253227934232, articleNumber=null, orderNo=13, doi=10.3981/j.issn.1000-7857.2017.16.007, pmid=null, cstr=null, oa=null, hot=null, price=null, onlineType=0, articleFormat=0, articleType=null, articleTypeStr=null, receivedDate=1495728000000, receivedDateStr=2017-05-26, revisedDate=1501430400000, revisedDateStr=2017-07-31, acceptedDate=null, acceptedDateStr=null, onlineDate=1503709804527, onlineDateStr=2017-08-26, pubDate=1503849600000, pubDateStr=2017-08-28, doiRegisterDate=null, doiRegisterDateStr=null, onlineIssueDate=1503709804527, onlineIssueDateStr=2017-08-26, onlineJustAcceptDate=null, onlineJustAcceptDateStr=null, onlineFirstDate=null, onlineFirstDateStr=null, sourceXml=null, magXml=null, createTime=1774077965407, creator=sys-migrate, updateTime=1774077965407, updator=sys-migrate, issue=Issue{id=1242136253227934232, tenantId=1146029695717560320, journalId=1146031591421210625, year='2017', volume='35', issue='16', pageStart='1', pageEnd='96', issueExtLink='null', onlineDate='null', pubDate='1503849600000', pubDateStr='2017-08-28', beforeIssueId=null, nextIssueId=null, price=null, status=1, issueComplete=1, articleOrder=3, issueType=-1, specialIssue=null, createTime=1774077960540, creator='sys-migrate', updateTime=1774077960540, updator='sys-migrate', preIssue=null, nextIssue=null, articleTotal=null, ext=null, issueFiles=null, downloadFileDto=null}, startPage=52, endPage=57, ext={EN=ArticleExt(id=1242136277097722422, articleId=1242136273633223234, tenantId=1146029695717560320, journalId=1146031591421210625, language=EN, title=Development of accurate endocrinology and the rare endocrine diseases, columnId=1242135221613703813, journalTitle=Science & Technology Review, columnName=Special lssues, runingTitle=null, highlight=null, articleAbstract=The rare diseases are characterized by an incidence less than 6.5/10000, which are both an ideal field of the precision medicine research and a significant area of clinical practice. The study of rare endocrine diseases, including the multiple endocrine neoplasia (MEN), the neonatal diabetes, the Cushing's syndrome and the congenital leptin deficiency syndrome, witnesses the development and the impact of the precision medicine. Based on a review in this respect, we discusses the future trend of the precision endocrinology in China. The precision medicine applied in the endocrine diseases such as the osteoporosis, the diabetes, and the obesity enables a better assessment of the individual risk of the endocrine diseases and can also help subclassify the diseases. Consequently, an individualized therapy could be realized. Furthermore, the medical informatics applied in the precision endocrinology may help the progress of building a big data platform and cast light in the new therapy of multifactorial diseases. The precision medicine of the rare endocrine diseases will become more prominant in a near future with the development of the sequencing technology and the establishment of the big data platform., authors=FENG Shi¹, LIU Shuang¹, GONG Mengchun¹, LI Mei¹, ZHANG Shuyang², authorsList=FENG Shi, LIU Shuang, GONG Mengchun, LI Mei, ZHANG Shuyang, authorCompany=1. Central Laboratories, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, China;
2. Department of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, China, correspAuthors=null, authorNote=null, correspAuthorsNote=null, copyrightStatement=null, copyrightOwner=null, extLink=null, articleAbsUrl=null, sourceXml=null, magXml=null, pdfUrl=null, pdf=A/jkGAOuA6H7DXNmFbN0VQ==, pdfFileSize=614777, pdfExtLink=null, richHtmlUrl=null, mobilePdfUrl=null, reviewReport=null, pdfFirstPage=null, abstractGraph=null, abstractGraphContent=null, abstractVideo=null, citation=null, cebUrl=null, magXmlContent=null, mapNumber=null, fund=null), CN=ArticleExt(id=1242136276296610347, articleId=1242136273633223234, tenantId=1146029695717560320, journalId=1146031591421210625, language=CN, title=从罕见内分泌疾病研究看精准内分泌学的发展, columnId=1242116902361830275, journalTitle=科技导报, columnName=专题论文, runingTitle=null, highlight=null, articleAbstract=罕见病指患病率低于7/10000的疾病，是精准医学研究的重要生物学模板和理想平台。多发性内分泌腺瘤综合征（MEN）、新生儿糖尿病、库欣氏综合征、先天性瘦素缺乏症等多种罕见内分泌疾病研究都反映了精准医学在内分泌领域的作用。在此基础上，本文进一步概括精准内分泌学的发展方向，在骨质疏松症、糖尿病、肥胖等内分泌疾病中应用精准医学，有助于对个体发病风险进行评估和预防，对复杂疾病进行精确诊断及分型，对疾病进行个体化治疗。此外，医学信息学在精准内分泌学领域的应用不仅可推动大数据平台建设，也提供了针对多因素复杂内分泌疾病的诊疗新思路。随着分子生物学技术的发展，建立罕见内分泌疾病的基因型和表型大数据平台，对于实现罕见内分泌疾病的精准诊疗具有重要意义。, authors=冯时¹, 刘爽¹, 弓孟春¹, 李梅¹, 张抒扬², authorsList=冯时, 刘爽, 弓孟春, 李梅, 张抒扬, authorCompany=1. 中国医学科学院北京协和医院中心实验室, 北京 100730;
2. 中国医学科学院北京协和医院心脏内科, 北京 100730, correspAuthors=null, authorNote=冯时,博士研究生,研究方向为临床医学及内分泌病学,电子信箱:joule_feng@163.com, correspAuthorsNote=李梅,主任医师,研究方向为临床医学及内分泌病学,电子信箱:limeilzh@sina.com;张抒扬,主任医师,研究方向为罕见病与精准医学,电子信箱:shuyangzhang103@163.com, copyrightStatement=null, copyrightOwner=null, extLink=null, articleAbsUrl=null, sourceXml=null, magXml=null, pdfUrl=null, pdf=dXaZs1Y9W/sUsBX7C/sfKQ==, pdfFileSize=614777, pdfExtLink=null, richHtmlUrl=null, mobilePdfUrl=null, reviewReport=null, pdfFirstPage=null, abstractGraph=null, abstractGraphContent=null, abstractVideo=null, citation=null, cebUrl=null, magXmlContent=null, mapNumber=null, fund=国家重点研发计划项目（2016YFC0901500）；上海市出生缺陷防治重点实验室开放课题（16DZKF1007）；国家卫生计生委2016年信息化与统计项目)}, authors=null, keywords=[Keyword(id=1242136274509836837, tenantId=1146029695717560320, journalId=1146031591421210625, articleId=1242136273633223234, language=CN, orderNo=1, keyword=罕见病), Keyword(id=1242136274593722918, tenantId=1146029695717560320, journalId=1146031591421210625, 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