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原发性纤毛运动障碍诊断中透射电子显微镜结果报告的国际共识指南(BEAT PCD TEM标准)

International consensus guideline for reporting transmission electron microscopy results in the diagnosis of primary ciliary dyskinesia (BEAT PCD TEM Criteria).

作者信息

Shoemark Amelia, Boon Mieke, Brochhausen Christoph, Bukowy-Bieryllo Zuzanna, De Santi Maria M, Goggin Patricia, Griffin Paul, Hegele Richard G, Hirst Robert A, Leigh Margaret W, Lupton Alison, MacKenney Karen, Omran Heymut, Pache Jean-Claude, Pinto Andreia, Reinholt Finn P, Schroeder Josep, Yiallouros Panayotis, Escudier Estelle

机构信息

Royal Brompton Hospital, London, UK.

School of Medicine, University of Dundee, Dundee, UK.

出版信息

Eur Respir J. 2020 Apr 16;55(4). doi: 10.1183/13993003.00725-2019. Print 2020 Apr.

Abstract

Primary ciliary dyskinesia (PCD) is a heterogeneous genetic condition. European and North American diagnostic guidelines recommend transmission electron microscopy (TEM) as one of a combination of tests to confirm a diagnosis. However, there is no definition of what constitutes a defect or consensus on reporting terminology. The aim of this project was to provide an internationally agreed ultrastructural classification for PCD diagnosis by TEM.A consensus guideline was developed by PCD electron microscopy experts representing 18 centres in 14 countries. An initial meeting and discussion were followed by a Delphi consensus process. The agreed guideline was then tested, modified and retested through exchange of samples and electron micrographs between the 18 diagnostic centres.The final guideline a) provides agreed terminology and a definition of Class 1 defects which are diagnostic for PCD; b) identifies Class 2 defects which can indicate a diagnosis of PCD in combination with other supporting evidence; c) describes features which should be included in a ciliary ultrastructure report to assist multidisciplinary diagnosis of PCD; and d) defines adequacy of a diagnostic sample.This tested and externally validated statement provides a clear guideline for the diagnosis of PCD by TEM which can be used to standardise diagnosis internationally.

摘要

原发性纤毛运动障碍(PCD)是一种具有遗传异质性的疾病。欧洲和北美的诊断指南推荐将透射电子显微镜检查(TEM)作为确诊所需的一系列检查之一。然而,对于何为缺陷以及报告术语尚无定论。本项目旨在通过TEM为PCD诊断提供一项国际公认的超微结构分类标准。由来自14个国家18个中心的PCD电子显微镜专家制定了一项共识指南。在一次初步会议和讨论之后,采用了德尔菲共识法。随后,通过在18个诊断中心之间交换样本和电子显微照片,对达成共识的指南进行了测试、修改和重新测试。最终指南:a)提供了用于诊断PCD的1类缺陷的公认术语和定义;b)确定了2类缺陷,这些缺陷与其他支持性证据相结合可提示PCD诊断;c)描述了纤毛超微结构报告中应包含的特征,以辅助PCD的多学科诊断;d)定义了诊断样本的充足性。这份经过测试并得到外部验证的声明为通过TEM诊断PCD提供了明确的指南,可用于在国际上规范诊断。

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