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 …

Accuracy of diagnostic testing in primary ciliary dyskinesia: are we there yet?

EG Haarman, M Schmidts - European Respiratory Journal, 2016 - Eur Respiratory Soc
Although primary ciliary dyskinesia (PCD) is a rare disease, symptoms like recurrent upper
and lower respiratory tract infections are extremely common, especially in the paediatric …

Nasal nitric oxide is an important test in the diagnostic pathway for primary ciliary dyskinesia

JS Lucas, WT Walker - Annals of the American Thoracic Society, 2013 - atsjournals.org
Robust diagnosis of primary ciliary dyskinesia (PCD) is important if patients are to receive
appropriate specialist management before irreversible deterioration of lung function occurs …

[HTML][HTML] Diagnóstico de discinesia ciliar primária

MAK Olm, EG Caldini, T Mauad - Jornal Brasileiro de Pneumologia, 2015 - SciELO Brasil
Primary ciliary dyskinesia (PCD) is a genetic disorder of ciliary structure or function. It results
in mucus accumulation and bacterial colonization of the respiratory tract which leads to …

Primary ciliary dyskinesia

J Djakow, C O'Callaghan - Breathe, 2014 - Eur Respiratory Soc
Educational aims To describe the emerging genetics of primary ciliary dyskinesia (PCD) and
the heterogeneity of the disease To highlight the clinical symptoms and signs suggestive of …

[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 …

Usefulness of measurement of nitric oxide in exhaled air in diagnostics and treatment of allergic rhinitis and asthma in children and adolescents

A Kowalczyk, A Krogulska - Developmental period medicine, 2018 - europepmc.org
Tlenek azotu, powstający przy udziale enzymów z grupy syntaz tlenku azotu, spełnia w
organizmie człowieka szereg istotnych funkcji, ale produkowany w nadmiarze wykazuje …

The effect of L-arginine on ciliary beat frequency in PCD patients, non-PCD respiratory patients and healthy controls

P Kouis, A Hadjisavvas, N Middleton… - Pulmonary …, 2018 - Elsevier
Objectives Few studies have examined the potentially therapeutic effect of increasing the
production of endogenous nitric oxide (NO) in Primary Ciliary Dyskinesia (PCD) and other …

[HTML][HTML] Regional anesthesia in a patient with primary ciliary dyskinesia: A case report

HJ Park, YH Kim, YJ Yoon, SY Cho - World Journal of Clinical …, 2024 - ncbi.nlm.nih.gov
BACKGROUND Primary ciliary dyskinesia (PCD) is an inherited autosomal-recessive
disorder of impaired mucociliary clearance characterized by chronic respiratory diseases …

Diagnosis of primary ciliary dyskinesia: current practice and future perspectives

A Shoemark, JS Lucas - Bronchiectasis (ERS Monograph) …, 2018 - books.google.com
PCD is a genetically and clinically heterogeneous condition. It is characterised by inherited
abnormality of motile ciliary function. Symptoms include recurrent upper and lower …