Why, when and how to investigate primary ciliary dyskinesia in adult patients with bronchiectasis [PDF]
, 2018 Bronchiectasis represents the final pathway of several infectious, genetic, immunologic or allergic disorders. Accurate and prompt identification of the underlying cause is a key recommendation of several international guidelines, in order to tailor ...
Aliberti, Stefano +12 more
core +3 more sources
Proceedings of the 3rd BEAT-PCD Conference and 4th PCD Training School [PDF]
, 2018 Primary ciliary dyskinesia (PCD) is a chronic suppurative airways disease that is usually recessively inherited and has marked clinical phenotypic heterogeneity.
A Onoufriadis +35 more
core +5 more sources
Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia [PDF]
, 2017 RATIONALE The standard approach to diagnosis of primary ciliary dyskinesia (PCD) in the UK consists of assessing ciliary function by high-speed-microscopy and ultrastructure by election microscopy, but equipment and expertise is not widely available ...
Bush, Andrew +10 more
core +3 more sources
Temporal Stability of Ciliary Beating Post Nasal Brushing, Modulated by Storage Temperature
Diagnostics, 2023 Primary ciliary dyskinesia is a heterogeneous, inherited motile ciliopathy in which respiratory cilia beat abnormally, and some ultrastructural ciliary defects and specific genetic mutations have been associated with particular ciliary beating ...
Noemie Bricmont +13 more
doaj +1 more source
Non-cystic fibrosis bronchiectasis in children and adolescents: Neglected and emerging issues. [PDF]
, 2020 Pediatric non-cystic fibrosis (CF) bronchiectasis is characterized by endobronchial suppuration, airway neutrophilic inflammation and poor mucus clearance and is associated with persistent productive cough due to recurrent airway infections.
Borrelli, M. +3 more
core +1 more source
A systems-biology approach to understanding the ciliopathy disorders. [PDF]
, 2011 'Ciliopathies' are an emerging class of genetic multisystemic human disorders that are caused by a multitude of largely unrelated genes that affect ciliary structure/function.
Gleeson, Joseph G, Lee, Ji Eun
core +1 more source
Hypovitaminosis D: a novel finding in primary ciliary dyskinesia [PDF]
, 2015 BACKGROUND: A relationship between low levels of serum vitamin D and respiratory infections has been established. No study has examined the frequency and clinical relevance of vitamin D deficiency in patients with primary ciliary dyskinesia (PCD ...
Caffarelli, Carlo +8 more
core +1 more source
Diagnosis of primary ciliary dyskinesia
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 +1 more source
Cardiopulmonary assessment in primary ciliary dyskinesia. [PDF]
, 2012 Background Primary ciliary dyskinesia (PCD) is a rare, usually autosomal recessive disorder of ciliary dysfunction associated with lung involvement, which has a great impact on health.
GIALLAURIA, FRANCESCO +6 more
core +1 more source
Primary ciliary dyskinesia. Clinical observation
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 +1 more source