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Not all are the same: the power of registries in defining genotype–phenotype relationships in primary ciliary dyskinesia
European Respiratory Journal ( IF 16.6 ) Pub Date : 2024-08-08 , DOI: 10.1183/13993003.01026-2024
Amjad Horani , Pleasantine Mill

Extract

Steve Jobs once said "You can't connect the dots looking forward; you can only connect them looking backwards. So you have to trust that the dots will somehow connect in your future." This holds especially true when dealing with rare conditions. Patterns often only emerge when you step back from individual patients and clinics and look over large multicentre datasets. Clinical registries are set up with the anticipation of finding patterns that can shed light onto disease processes, prognosis and differences between patient groups.



中文翻译:


并非所有情况都相同:登记在定义原发性纤毛运动障碍基因型-表型关系方面的力量


 提炼


史蒂夫·乔布斯曾经说过:“你无法将未来的点点滴滴串联起来;你只能在回顾过去时将它们串联起来。所以你必须相信,这些点点滴滴会在你的未来以某种方式串联起来。”在处理罕见情况时尤其如此。通常只有当您从个体患者和诊所退一步并查看大型多中心数据集时,模式才会出现。临床登记的建立是为了寻找能够揭示疾病过程、预后和患者群体之间差异的模式。

更新日期:2024-08-08
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