Ciliary dyskinesia
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 male ...
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Why, when and how to investigate primary ciliary dyskinesia in adult patients with bronchiectasis
... respiratory ciliary activity in epithelium obtained by cytology brush from the nose or ...measure ciliary beat frequency (CBF) and re- view ciliary beat pattern (CBP) ...secondary dyskinesia, ...
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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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Synthesis and Secretion of Cystic Fibrosis Ciliary Dyskinesia Substances by Purified Subpopulations of Leukocytes
... different ciliary dyskinesia substances (CDS), which can be detected by their activity in vitro in a rabbit mucociliary bioassay. Their PBL also release substances that promote mucus expulsion and ...
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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 and ...
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Primary ciliary dyskinesia in Japan: systematic review and meta-analysis
... MEDLINE, EMBASE, and Japana Centra Revuo Medi- cina (Ichushi in Japanese) databases were searched elec- tronically during November 15–28, 2016 supported by clinical librarians at St. Luke’s International University ...
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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 ...of ...
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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 Kartagener ...
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Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot study
... Primary ciliary dyskinesia (PCD) is a rare congenital respiratory disorder characterized by abnormal ciliary motility leading to chronic airway ...of ciliary beat pattern based on digital ...
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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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Cystic fibrosis ciliary dyskinesia substances and pulmonary disease Effects of ciliary dyskinesia substances on neutrophil movement in vitro
... Cultured mononuclear cells (MNC) from individuals homozygous or heterozygous for the defective gene causing the inherited disease cystic fibrosis (CF) synthesize three unusual "mediators" termed ciliary ...
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Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure
... the ciliary motility can identify absent, diminished or uncoordin- ated ...secondary ciliary dyskinesia (SCD), defined as a non-inherited dysfunction of the cilia due to respiratory infection 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 clinical ...
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X linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
... primary ciliary dyskinesia (PCD), a generally autosomal recessive disorder affecting 1 per 10,000–15,000 live births 2,3 ...the ciliary axonemes, due to mutations in genes encoding axonemal dynein ...
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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 infections, ...
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Primary ciliary dyskinesia: mechanisms and management
... Primary ciliary dyskinesia is a genetically heterogeneous disorder of motile cilia that is predominantly inherited in an autosomal-recessive ...abnormal ciliary structure and/or function leading to ...
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DNAH6 and its interactions with PCD genes in heterotaxy and primary ciliary dyskinesia
... the ciliary axoneme (green) in control human respiratory epithelium and in patient ...the ciliary axoneme (green) with sh DNAH6 knockdown of human respiratory ...
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Ultrastructural pathology of primary ciliary dyskinesia: report about 125 cases in Germany
... transverse ciliary sections of different cells were investigated. Ciliary abnormalities in over 20% of available axonema were required for diagnosis of pri- mary ...
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Automated computed tomographic scoring of lung disease in adults with primary ciliary dyskinesia
... Between November 2009 and July 2016, 95 patients with a confirmed diagnosis of PCD were identified, of whom sixty-two patients were included in this study. Among the 33 excluded patients, 24 had no available CT exam- ...
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