Leveraging undecided cases in chart-reviewed phenotypes to enhance EHR-based association studies [0.03%]
利用图表审查的表型中的未决病例增强基于EHR的关联研究
Xinyao Jian,Dazheng Zhang,Zehao Yu et al.
Xinyao Jian et al.
Objectives: In electronic health record (EHR)-based association studies, phenotyping algorithms efficiently classify patient clinical outcomes into binary categories but are susceptible to misclassification errors. The go...
Genetically unresolved case of Rauch-Steindl syndrome diagnosed by its wolf-hirschhorn associated DNA methylation episignature [0.03%]
通过狼-赫希霍恩相关DNA甲基化表型标记诊断的Rauch-Steindl综合征遗传未决病例
Haley McConkey,Alexandre White-Brown,Jennifer Kerkhof et al.
Haley McConkey et al.
Wolf-Hirschhorn syndrome (WHS) is caused by deletion of a critical region of the short arm of chromosome 4. Clinical features of WHS include distinct dysmorphic facial features, growth restriction, developmental delay, intellectual disabili...
The unresolved case of sacral chordoma: from misdiagnosis to challenging surgery and medical therapy resistance [0.03%]
尾神经鞘瘤未决病例：从误诊到极具挑战性的手术及药物治疗抵抗性
Fabio Garofalo,Dimitrios Christoforidis,Pietro G di Summa et al.
Fabio Garofalo et al.
Purpose: A sacral chordoma is a rare, slow-growing, primary bone tumor, arising from embryonic notochordal remnants. Radical surgery is the only hope for cure. The aim of our present study is to analyse our experience wit...
Socioepidemiological screening of serologically ineligible blood donors due to Chagas disease for the definition of inconclusive cases [0.03%]
恰加斯病血清学筛查不合格献血者进行社会流行病学筛查以确定未决病例
Márcia M Ferreira-Silva,Gilberto A Pereira,Eliane Lages-Silva et al.
Márcia M Ferreira-Silva et al.
Epidemiological screening combined with serological tests has become an important tool at blood banks for the characterization of donors with or without Trypanosoma cruzi infection. Thus, the objective of the present study was to describe t...