未确诊疾病网络:可解决的申请者的特征和对未被接受的申请者的诊断建议。

IF 6.6 1区 医学 Q1 GENETICS & HEREDITY
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引用次数: 0

摘要

目的:未确诊疾病网络(UDN)能否通过某些特征识别出一些寻求广泛评估和全面病历审查的未确诊患者?未确诊疾病网络是一个全国性的研究资源,旨在通过团队科学解决医学之谜。申请人在知情的情况下同意查阅其医疗记录。专家小组审查后,评估申请人是否符合纳入和排除标准,从而选择参与者。在不接受申请人时,UDN 专家会为诊断工作提供建议。我们利用初始申请中的极少量信息,将未被接受的申请人的特征与已被接受且 UDN 已解决或仍未解决的申请人的特征进行比较。我们对未被接受的申请人及其临床医生提出的诊断建议进行了统计:结果:与被接受的申请人相比,未被接受的申请人多为女性,初次出现症状和申请时年龄较大,审查时间较长。被接受并成功确诊的申请者年龄较小,审查时间较短,多为非白人、西班牙裔,且具有神经系统特征。半数未被接受的申请人被建议在当地做进一步诊断评估。少数人似乎有两个主要诊断或有诱发性环境接触史:结论:全面的 UDN 记录审查可能会产生有用的建议。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones

Purpose

Can certain characteristics identify as solvable some undiagnosed patients who seek extensive evaluation and thorough record review, such as by the Undiagnosed Diseases Network (UDN)?

Methods

The UDN is a national research resource to solve medical mysteries through team science. Applicants provide informed consent to access to their medical records. After review, expert panels assess if applicants meet inclusion and exclusion criteria to select participants. When not accepting applicants, UDN experts may offer suggestions for diagnostic efforts. Using minimal information from initial applications, we compare features in applicants who are not accepted with those who are accepted and either solved or still not solved by the UDN. The diagnostic suggestions offered to nonaccepted applicants and their clinicians were tallied.

Results

Nonaccepted applicants were more often female, older at first symptoms and application, and longer in review compared with accepted applicants. The accepted and successfully diagnosed applicants were younger, shorter in review time, more often non-White, of Hispanic ethnicity, and presenting with nervous system features. Half of nonaccepted applicants were given suggestions for further local diagnostic evaluation. A few seemed to have 2 major diagnoses or a provocative environmental exposure history.

Conclusion

Comprehensive UDN record review generates possibly helpful advice.

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来源期刊
Genetics in Medicine
Genetics in Medicine 医学-遗传学
CiteScore
15.20
自引率
6.80%
发文量
857
审稿时长
1.3 weeks
期刊介绍: Genetics in Medicine (GIM) is the official journal of the American College of Medical Genetics and Genomics. The journal''s mission is to enhance the knowledge, understanding, and practice of medical genetics and genomics through publications in clinical and laboratory genetics and genomics, including ethical, legal, and social issues as well as public health. GIM encourages research that combats racism, includes diverse populations and is written by authors from diverse and underrepresented backgrounds.
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