Results 21 to 30 of about 16,014 (252)

Noncoding DNA Variants in Primary Ciliary Dyskinesia: Another Piece of the Diagnostic Puzzle. [PDF]

Am J Respir Crit Care Med
Shteinberg M, Shapiro AJ.
europepmc   +3 more sources

Primary Ciliary Dyskinesia [PDF]

Respiratory Care, 2013
Primary ciliary dyskinesia (PCD) is a rare genetic condition that affects the ciliary function of the respiratory tract, sperm tail, cilia of the embryonic node, and fallopian tube. The condition is characterized by impaired ciliary action, leading to recurrent lower-respiratory-tract infections,
Fatma, Çiftçi, Pergin, Atilla, Sevda, Müftüoglu, Demet, Karnak   +3 more
openaire   +3 more sources

Physical activity, respiratory physiotherapy practices, and nutrition among people with primary ciliary dyskinesia in Switzerland – a cross-sectional survey

Swiss Medical Weekly, 2022
AIMS OF THE STUDY: We know little about the level of physical activity, respiratory physiotherapy practices and nutritional status of people with primary ciliary dyskinesia (PCD), although these are important aspects of patients with chronic ...
Yin Ting Lam, Eva S. L. Pedersen, Leonie D. Schreck, Leonie Hüsler, Helena Koppe, Fabiën N. Belle, Christian Clarenbach, Philipp Latzin, Claudia E. Kuehni, Myrofora Goutaki   +9 more
doaj   +1 more source

Primary ciliary dyskinesia: state of the problem and prospects

Медицинский совет, 2021
This review article provides an up-to-date understanding of primary ciliary dyskinesia (immotile-cilia syndrome) and its particular variant, Cartagener syndrome, a genetically determined pathology leading to chronic inflammatory lesions of the ...
Andrey A. Novak, Yuriy L. Mizernitskiy
doaj   +1 more source

Standardised clinical data from patients with primary ciliary dyskinesia: FOLLOW-PCD

ERJ Open Research, 2020
Clinical data on primary ciliary dyskinesia (PCD) are limited, heterogeneous and mostly derived from retrospective chart reviews, leading to missing data and unreliable symptoms and results of physical examinations.
Myrofora Goutaki, Jean-François Papon, Mieke Boon, Carmen Casaulta, Ernst Eber, Estelle Escudier, Florian S. Halbeisen, Amanda Harris, Claire Hogg, Isabelle Honore, Andreas Jung, Bulent Karadag, Cordula Koerner-Rettberg, Marie Legendre, Bernard Maitre, Kim G. Nielsen, Bruna Rubbo, Nisreen Rumman, Lynne Schofield, Amelia Shoemark, Guillaume Thouvenin, Hannah Willkins, Jane S. Lucas, Claudia E. Kuehni   +23 more
doaj   +1 more source

Quantitative Assessment of Ciliary Ultrastructure with the Use of Automatic Analysis: PCD Quant

Diagnostics, 2021
The ciliary ultrastructure can be damaged in various situations. Such changes include primary defects found in primary ciliary dyskinesia (PCD) and secondary defects developing in secondary ciliary dyskinesia (SCD).
Andrea Felšöová, Tibor Sloboda, Lukáš Hudec, Miroslav Koblížek, Petr Pohunek, Vendula Martinů, Žofia Varényiová, Simona Kadlecová, Jiří Uhlík   +8 more
doaj   +1 more source

Clinical care for primary ciliary dyskinesia: current challenges and future directions

European Respiratory Review, 2017
Primary ciliary dyskinesia (PCD) is a rare genetic disease that affects the motility of cilia, leading to impaired mucociliary clearance. It is estimated that the vast majority of patients with PCD have not been diagnosed as such, providing a major ...
Bruna Rubbo, Jane S. Lucas
doaj   +1 more source

Ear and upper airway clinical outcome measures for use in primary ciliary dyskinesia research: a scoping review

European Respiratory Review, 2023
Background Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterised by pulmonary, otological and sino-nasal manifestations. Well-defined clinical outcome measures are needed in such rare diseases research to improve follow-up and ...
Mihaela Alexandru, Raphaël Veil, Bruna Rubbo, Myrofora Goutaki, Sookyung Kim, Yin Ting Lam, Jérôme Nevoux, Jane S. Lucas, Jean-François Papon   +8 more
doaj   +1 more source

Pulmonary Infection Related to Mimivirus in Patient with Primary Ciliary Dyskinesia

Emerging Infectious Diseases, 2020
Primary ciliary dyskinesia is a rare autosomal recessive disorder that causes oto-sino-pulmonary disease. We report a case of pulmonary infection related to mimivirus in a 10-year-old boy with primary ciliary dyskinesia that was identified using ...
Fatemeh Sakhaee, Farzam Vaziri, Golnaz Bahramali, Seyed Davar Siadat, Abolfazl Fateh   +4 more
doaj   +1 more source

Diagnosing primary ciliary dyskinesia [PDF]

Thorax, 2007
A nationally funded diagnostic service should lead to improved outcome The National Specialist Commissioning Advisory Group (NSCAG) has funded three centres to establish and provide a national diagnostic service for England for children and adults suspected of suffering from primary ciliary dyskinesia (PCD).
O'Callaghan, C, Chilvers, M, Hogg, C, Bush, A, Lucas, J   +4 more
openaire   +4 more sources