Results 11 to 20 of about 4,530,510 (207)
Barcelona Respiratory Network ReviewsPrimary ciliary dyskinesia (PCD) is a rare genetic respiratory disease caused by a dysfunction of motile respiratory cilia and is characterized by laterality defects, neonatal respiratory distress, recurrent upper and lower airway tract infections, and ...
Sandra Rovira-Amigo +3 more
doaj +15 more sources
Diagnosis of primary ciliary dyskinesia [PDF]
Jornal Brasileiro de Pneumologia, 2015 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 chronic upper and lower airway infections, organ laterality ...
Mary Anne Kowal Olm +2 more
doaj +5 more sources
Diagnosis of Primary Ciliary Dyskinesia [PDF]
Clinics in Chest Medicine, 2022 Primary ciliary dyskinesia (PCD) is a rare genetic disease leading to bronchiectasis in most patients. In addition to the lungs, PCD might affect multiple organ systems, and patients frequently have multiple clinical problems, which require multidisciplinary management.
Goutaki, Myrofora, Shoemark, Amelia
openaire +5 more sources
Perspectives for Primary Ciliary Dyskinesia
International Journal of Molecular Sciences, 2022 Primary ciliary dyskinesia (PCD) is a ciliopathy caused by genetically determined impairment of motile cilia–organelles present on the surface of many types of cells [...]
Zuzanna Bukowy-Bieryllo +2 more
openaire +3 more sources
Primary Ciliary Dyskinesia [PDF]
Clinics in Chest Medicine, 2016 Primary ciliary dyskinesia (PCD) is a recessive genetically heterogeneous disorder of motile cilia with chronic otosinopulmonary disease and organ laterality defects in ∼50% of cases. The prevalence of PCD is difficult to determine. Recent diagnostic advances through measurement of nasal nitric oxide and genetic testing has allowed rigorous diagnoses ...
Michael R, Knowles +2 more
core +8 more sources
Follicular bronchiolitis in primary ciliary dyskinesia [PDF]
australasian medical journal, 2014 Ciliary dysfunction in primary ciliary dyskinesia (PCD) may be associated with bronchiolitis. Diffuse bronchiolitis has been reported in a subset of PCD patients who have Kartagener's syndrome in Japan. We report a case of follicular bronchiolitis (FB) in a case of PCD presenting with recurrent episodes of cough, dyspnea, and bronchiectasis.
Prashanth M, Thalanayar +1 more
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Primary Ciliary Dyskinesia in Children
Педиатрическая фармакология, 2018 The article presents current approaches to medical care delivery in children with primary ciliary dyskinesia. The genetic heterogeneity of the disease causes the variability of pathological symptoms in clinical practice.
Alexander A. Baranov +9 more
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Primary ciliary dyskinesia: mechanisms and management
The Application of Clinical Genetics, 2017 Nadirah Damseh,1 Nada Quercia,1,2 Nisreen Rumman,3 Sharon D Dell,4 Raymond H Kim5 1Division of Clinical and Metabolic Genetics, 2Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada; 3Pediatric Department, Makassed Hospital ...
Damseh N +4 more
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Primary ciliary dyskinesia. Clinical observation [PDF]
Acta Biomedica Scientifica, 2016 We give an example of our own clinical observation of primary ciliary dyskinesia showing difficulties of this disease diagnosis. The complexity of this clinical picture is in the absence of situs viscerum inversus of the patient with early symptoms of ...
T. B. Pavlova, V. M. Shinkaryova
doaj +3 more sources
International Collaboration in Primary Ciliary Dyskinesia. [PDF]
Pediatr PulmonolABSTRACT Primary Ciliary Dyskinesia (PCD) exemplifies how international collaboration can transform the study of a rare disease. Since the identification of the first PCD‐associated genes in 1999–2002, parallel developments in Europe and North America, driven by patient organizations, academic investigators, and coordinated funding initiatives, have ...
Pennekamp P, Manion M, Omran H.
europepmc +2 more sources