Literature DB >> 32060067

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

Amelia Shoemark1,2, Mieke Boon3, Christoph Brochhausen4, Zuzanna Bukowy-Bieryllo5, Maria M De Santi6, Patricia Goggin7, Paul Griffin1,8, Richard G Hegele9, Robert A Hirst10, Margaret W Leigh11, Alison Lupton12, Karen MacKenney13, Heymut Omran14, Jean-Claude Pache15, Andreia Pinto16, Finn P Reinholt17, Josep Schroeder4, Panayotis Yiallouros18, Estelle Escudier19.   

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.
Copyright ©ERS 2020.

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Year:  2020        PMID: 32060067     DOI: 10.1183/13993003.00725-2019

Source DB:  PubMed          Journal:  Eur Respir J        ISSN: 0903-1936            Impact factor:   16.671


  15 in total

1.  Bi-allelic variants in human TCTE1/DRC5 cause asthenospermia and male infertility.

Authors:  Shushu Zhou; Huan Wu; Jintao Zhang; Xiaojin He; Siyu Liu; Ping Zhou; Rong Hua; Yunxia Cao; Mingxi Liu
Journal:  Eur J Hum Genet       Date:  2022-04-07       Impact factor: 5.351

2.  Going beyond the chest X-ray: Investigating laterality defects in primary ciliary dyskinesia.

Authors:  Wallace B Wee; Kimberley R Kaspy; Michael G Sawras; Michael R Knowles; Maimoona A Zariwala; Margaret W Leigh; Sharon D Dell; Adam J Shapiro
Journal:  Pediatr Pulmonol       Date:  2022-02-21

3.  Ciliary Feature Counter: A program for the Quantitative Assessment of Cilia to Diagnose Primary Ciliary Dyskinesia.

Authors:  Andreia L Pinto; Ranjit K Rai; Claire Hogg; Thomas Burgoyne
Journal:  Diagnostics (Basel)       Date:  2020-07-28

4.  CiliarMove: new software for evaluating ciliary beat frequency helps find novel mutations by a Portuguese multidisciplinary team on primary ciliary dyskinesia.

Authors:  Pedro Sampaio; Mónica Ferro da Silva; Inês Vale; Mónica Roxo-Rosa; Andreia Pinto; Carolina Constant; Luisa Pereira; Carla M Quintão; Susana S Lopes
Journal:  ERJ Open Res       Date:  2021-02-08

5.  Proceedings of the 4th BEAT-PCD Conference and 5th PCD Training School.

Authors:  Laura E Gardner; Katie L Horton; Amelia Shoemark; Jane S Lucas; Kim G Nielsen; Helene Kobbernagel; Bruna Rubbo; Robert A Hirst; Panayiotis Kouis; Nicola Ullmann; Ana Reula; Nisreen Rumman; Hannah M Mitchison; Andreia Pinto; Charlotte Richardson; Anne Schmidt; James Thompson; René Gaupmann; Maciej Dabrowski; Pleasantine Mill; Siobhan B Carr; Dominic P Norris; Claudia E Kuehni; Myrofora Goutaki; Claire Hogg
Journal:  BMC Proc       Date:  2020-06-19

6.  Properties of Non-Aminoglycoside Compounds Used to Stimulate Translational Readthrough of PTC Mutations in Primary Ciliary Dyskinesia.

Authors:  Maciej Dabrowski; Zuzanna Bukowy-Bieryllo; Claire L Jackson; Ewa Zietkiewicz
Journal:  Int J Mol Sci       Date:  2021-05-07       Impact factor: 5.923

7.  Exacerbations and Pseudomonas aeruginosa colonization are associated with altered lung structure and function in primary ciliary dyskinesia.

Authors:  G Piatti; M M De Santi; A Farolfi; G V Zuccotti; E D'Auria; M F Patria; S Torretta; D Consonni; U Ambrosetti
Journal:  BMC Pediatr       Date:  2020-04-13       Impact factor: 2.125

8.  Primary Ciliary Dyskinesia with Refractory Chronic Rhinosinusitis.

Authors:  Isao Suzaki; Kojiro Hirano; Sawa Arai; Yuki Maruyama; Tomomi Mizuyoshi; Takatoshi Tokudome; Naokazu Fujii; Hitome Kobayashi
Journal:  Am J Case Rep       Date:  2020-08-30

9.  Axonemal Symmetry Break, a New Ultrastructural Diagnostic Tool for Primary Ciliary Dyskinesia?

Authors:  Rosana Blanco-Máñez; Miguel Armengot-Carceller; Teresa Jaijo; Francisco Vera-Sempere
Journal:  Diagnostics (Basel)       Date:  2022-01-06

10.  International BEAT-PCD consensus statement for infection prevention and control for primary ciliary dyskinesia in collaboration with ERN-LUNG PCD Core Network and patient representatives.

Authors:  June K Marthin; Jane S Lucas; Mieke Boon; Carmen Casaulta; Suzanne Crowley; Damien M S Destouches; Ernst Eber; Amparo Escribano; Eric Haarman; Claire Hogg; Bernard Maitre; Gemma Marsh; Vendula Martinu; Antonio Moreno-Galdó; Huda Mussaffi; Heymut Omran; Petr Pohunek; Bernhard Rindlisbacher; Phil Robinson; Deborah Snijders; Woolf T Walker; Panayiotis Yiallouros; Helle Krogh Johansen; Kim G Nielsen
Journal:  ERJ Open Res       Date:  2021-08-02
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