High-speed video microscopy analysis for first-line diagnosis of primary ciliary dyskinesia

R Schultz, T Peromaa, H Lukkarinen… - JoVE (Journal of Visualized …, 2022 - jove.com
Primary ciliary dyskinesia (PCD) is a congenital disorder predominantly inherited in an
autosomal recessive trait. The disorder causes disturbance in the motion of cilia, leading to …

[HTML][HTML] Primary Ciliary Dyskinesia: Integrating Genetics into Clinical Practice

E Cant, A Shoemark, JD Chalmers - Current Pulmonology Reports, 2024 - Springer
Abstract Purpose of Review Advances in molecular genetics have improved our
understanding of primary ciliary dyskinesia. The purpose of this review is to describe the …

[HTML][HTML] Light-sheet laser speckle imaging for cilia motility assessment

K Long, J Liu, S Shen, M Thong, D Wang… - Computational and …, 2023 - Elsevier
Mucociliary clearance is an important innate defense mechanism predominantly mediated
by ciliated cells in the upper respiratory tract. Ciliary motility on the respiratory epithelium …

[HTML][HTML] 原发性纤毛运动障碍研究进展

陈其慧, 李莹 - Advances in Clinical Medicine, 2023 - hanspub.org
原发性纤毛运动障碍(Primary ciliary dyskinesia, PCD), 是一种罕见的遗传异质性疾病,
是由基因突变导致运动纤毛结构和(或) 功能, 数量异常, 从而引起相应组织器官功能障碍而引起 …

[HTML][HTML] High-speed videomicroscopy analysis presents limitations in diagnosis of primary ciliary dyskinesia

AJ Shapiro, TW Ferkol, M Manion… - American journal of …, 2020 - atsjournals.org
5. Leigh MW, Ferkol TW, Davis SD, Lee HS, Rosenfeld M, Dell SD, et al. Clinical features
and associated likelihood of primary ciliary dyskinesia in children and adolescents. Ann Am …

[HTML][HTML] Proceedings of the 4th BEAT-PCD Conference and 5th PCD Training School

LE Gardner, KL Horton, A Shoemark, JS Lucas… - BMC proceedings, 2020 - Springer
Primary ciliary dyskinesia (PCD) is an inherited ciliopathy leading to chronic suppurative
lung disease, chronic rhinosinusitis, middle ear disease, sub-fertility and situs abnormalities …

Errors in methodology affect diagnostic accuracy of high-speed videomicroscopy analysis in primary ciliary dyskinesia

AJ Shapiro, MW Leigh, H Omran, V Lavergne… - Chest, 2019 - journal.chestnet.org
To the Editor: The study by Rubbo et al 1 in a recent issue of CHEST (May 2019) explores
accuracy of high speed video-microscopy analysis (HSVA) as a primary ciliary dyskinesia …

[PDF][PDF] Diagnóstico de la discinecia ciliar primaria

AMH Gana - Neumología Pediátrica, 2019 - scholar.archive.org
La discinesia ciliar primaria es una enfermedad congénita debida a una alteración del
movimiento normal de los cilios, especialmente a nivel del epitelio respiratorio. Esto se …

New Diagnostic Methods and Treatment Recommendations in Primary Ciliary Dyskinesia: Primary Ciliary Dyskinesia

N Emiralioğlu - The Journal of Pediatric Academy, 2020 - jpediatricacademy.com
Primary ciliary dyskinesia (PCD) is a rare and genetically heterogeneous disease and
clinically characterized by neonatal respiratory distress, organ laterality defects, persistent …

Implementación de un panel de genes para el diagnóstico genético de la discinesia ciliar primaria

N Baz-Redón, S Rovira-Amigo, I Paramonov… - Archivos de …, 2021 - Elsevier
Introducción La discinesia ciliar primaria (DCP) es una enfermedad caracterizada por una
alteración en la estructura ciliar que impide el correcto aclaramiento de las secreciones …