Primary ciliary dyskinesia [PDF]
QJM, 2014 Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder of cilia structure, function, and biogenesis leading to chronic infections of the respiratory tract, fertility problems, and disorders of organ laterality. The diagnosis can be challenging, using traditional tools such as characteristic clinical features, ciliary function, and ...
L J, Lobo, M A, Zariwala, P G, Noone
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Domiciliary High-Flow Nasal Therapy in Primary Ciliary Dyskinesia [PDF]
, 2023 We report the case of an adolescent with severe primary ciliary dyskinesia (PCD) phenotype associated with a rare genotype. His clinical condition deteriorated, with daily cough and breathlessness, hypoxemia, and lung function decline.
Gomes, Rita +9 more
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Primary ciliary dyskinesia [PDF]
Archives of Disease in Childhood, 2002 Primary ciliary dyskinesia (PCD) is an inherited condition characterised by functional and/or structural congenital abnormalities of cilia. Presentation is often in the neonatal period, but there are age-related differences in presentation, and diagnosis is often delayed.
Bush, A, O'Callaghan, C
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The BEAT-PCD (Better Experimental Approaches to Treat Primary Ciliary Dyskinesia) Clinical Research Collaboration [editorial]. [PDF]
, 2021 The BEAT-PCD ERS CRC is a large multidisciplinary network of researchers and healthcare professionals aiming to advance clinical and translational research in different areas of primary ciliary dyskinesia building upon previous collaborative ...
Kouis, Panayiotis +16 more
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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,
Karnak, Demet +3 more
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Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm. [PDF]
, 2013 Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous ciliopathy disorder affecting cilia and sperm motility. A range of ultrastructural defects of the axoneme underlie the disease, which is characterised by chronic respiratory symptoms ...
Danke-Roelse, JE +52 more
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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 +8 more
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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 +8 more
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Living with primary ciliary dyskinesia: a prospective qualitative study of knowledge sharing, symptom concealment, embarrassment, mistrust, and stigma [PDF]
, 2006 Primary ciliary dyskinesia (PCD) is a chronic respiratory disease for which there is little psycho-social research and no qualitative studies of individuals living with the condition.
Whalley Simon +5 more
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Proceedings of the 2nd BEAT-PCD conference and 3rd PCD training school: part 1
BMC Proceedings, 2018 Primary ciliary dyskinesia (PCD) is a rare heterogenous condition that causes progressive suppurative lung disease, chronic rhinosinusitis, chronic otitis media, infertility and abnormal situs.
Florian Halbeisen +23 more
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