Primary ciliary dyskinesia
Diagnosis and management of primary ciliary dyskinesia
... Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder with defective structure and/or function of motile cilia/flagella, causing chronic upper and lower respiratory tract ...
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Diagnosis of primary ciliary dyskinesia: potential options for resource-limited countries
... Support statement: N. Rumman is the recipient of an European Respiratory Society Fellowship (STRTF 2014-6816). The National PCD Diagnostic Service at University Hospital Southampton (UHS) is commissioned and funded by ...
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Case Report Whole-exome sequencing identify mutations in DNAH5 in a Chinese Han patient with primary ciliary dyskinesia: a case report
... Primary ciliary dyskinesia (PCD, MIM244400) is a rare, highly genetically heterogeneous dis- ease inherited in an autosomal recessive man- ...sinusitis. Ciliary dysmotili- ty can also cause ...
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Peripheral Vestibular Dysfunction in Patients With Primary Ciliary Dyskinesia
... Primary ciliary dyskinesia (PCD) is a rare genetic defect of ciliary structure and/or motility (dyskinesia) with an incidence of approximately 1:15,000 ...
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Hypovitaminosis D: a novel finding in primary ciliary dyskinesia
... Primary ciliary dyskinesia (PCD), a genetic disorder of cilia function and ultrastructure with situs viscerum inversus occurring in 50% of patients, is characterized by impaired mucociliary clearance ...
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Diagnosis of Common Variable Immunodeficiency in a Patient With Primary Ciliary Dyskinesia
... In this case report we describe the first account in the literature of a patient with primary ciliary dyskinesia and common variable immunodeficiency. A 17-year-old boy with previously diagnosed ...
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Clinical care for primary ciliary dyskinesia: current challenges and future directions
... Pushing the pipeline for new therapies requires a coordinated approach from scientists, clinicians and industry. BEAT-PCD (Better Experimental Approaches to Treat Primary Ciliary Dyskinesia) (www. ...
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X linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
... Department of Paediatric Respiratory Medicine, Great Ormond Street Hospital for Children, London WC1N 3JH, UK. 18 Department of Respiratory, Critical Care and Anaesthesia Unit, University College London (UCL) Great ...
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Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot study
... Background: Primary ciliary dyskinesia (PCD) is a rare congenital respiratory disorder characterized by abnormal ciliary motility leading to chronic airway ...of ciliary beat pattern ...
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Why, when and how to investigate primary ciliary dyskinesia in adult patients with bronchiectasis
... Primary ciliary dyskinesia (PCD) is widely recognized as an aetiology of bronchiectasis not only in children or young adults but also in older patients ...ineffective ciliary beating and ...
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Cost-effectiveness analysis of three algorithms for diagnosing primary ciliary dyskinesia: a simulation study
... of Primary Ciliary Dyskinesia also recommend a diagnostic algorithm which includes as a first step the parallel performance of both nNO and HSVM and confirmation with TEM in a second step ...
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Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia
... Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder associated with ciliary defects and situs inversus totalis, the complete mirror image reversal of internal organ situs ...
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Primary ciliary dyskinesia (Siewert's/Kartagener's syndrome): respiratory symptoms and psycho-social impact
... Primary Ciliary Dyskinesia is a chronic illness, in which, as Siewert emphasised in his description of the first prop- erly documented case, symptoms can be present from soon after ...
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Ciliated conical epithelial cell protrusions point towards a diagnosis of primary ciliary dyskinesia
... Primary Ciliary Dyskinesia (PCD) is a rare autosomal re- cessive disease affecting motile cilia throughout the body. The prevalence has been reported at 1 in 2200 in a highly consanguineous British ...
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Diagnostic accuracy of nasal nitric oxide for establishing diagnosis of primary ciliary dyskinesia: a meta-analysis
... The electronic databases PubMed, SCOPUS, Cochrane Database of Systematic Reviews and Google Scholar were searched from inception until March 2015 using the keywords: ‘nasal nitric oxide’ , “nNO”, “nasal NO”, ...
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Complexity, Temporal Stability, and Clinical Correlates of Airway Bacterial Community Composition in Primary Ciliary Dyskinesia
... Primary ciliary dyskinesia (PCD) is a genetic disease characterized by abnormalities in ciliary function, leading to compromised airway clearance and chronic bacterial infection of the upper ...
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Living with primary ciliary dyskinesia: a prospective qualitative study of knowledge sharing, symptom concealment, embarrassment, mistrust, and stigma
... Primary Ciliary Dyskinesia (PCD) (immotile cilia syn- drome, Kartagener's or Siewert's Syndrome [1-3]), is a chronic respiratory disorder with a prevalence of about 1 in 15,000 – 30, 000 [4,5], ...
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Primary ciliary dyskinesia: mechanisms and management
... Abstract: Primary ciliary dyskinesia is a genetically heterogeneous disorder of motile cilia that is predominantly inherited in an autosomal-recessive ...abnormal ciliary structure and/or ...
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PRIMARY CILIARY DYSKINESIA - eSciPub Journals
... Primary Ciliary Dyskinesia (PCD) is a heterogeneous recessive autosomal disorder that affects mainly the motile ...the ciliary ultrastruc- ture, activity and biogenesis to understand the ...
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Primary ciliary dyskinesia: current state of the art
... Primary ciliary dyskinesia (PCD) is usually inherited as an autosomal recessive disorder and presents with upper and lower respiratory tract infection, and mirror image arrangement in around 50% of ...
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