Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia
نویسندگان
چکیده
منابع مشابه
Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia.
RATIONALE The standard approach to diagnosis of primary ciliary dyskinesia (PCD) in the United Kingdom consists of assessing ciliary function by high-speed microscopy and ultrastructure by election microscopy, but equipment and expertise is not widely available internationally. The identification of biallelic disease-causing mutations is also diagnostic, but many disease-causing genes are unkno...
متن کاملDiagnosis of primary ciliary dyskinesia*
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 defects, and fertility problems. We review the respiratory signs and symptoms of PCD, as well as the screening tests for and diagnostic investigatio...
متن کاملDiagnosis and management of primary ciliary dyskinesia
Primary Ciliary Dyskinesia Centre, Southampton Children’s Hospital, Southampton NHS Foundation Trust, Southampton, UK Clinical and Experimental Sciences Academic Unit, University of Southampton Faculty of Medicine, Southampton, UK Molecular Medicine Unit and Birth Defects Research Centre, University College London (UCL) Institute of Child Health, London, UK Division of Services for Women and Ch...
متن کاملAccuracy of diagnostic testing in primary ciliary dyskinesia
Diagnosis of primary ciliary dyskinesia (PCD) lacks a "gold standard" test and is therefore based on combinations of tests including nasal nitric oxide (nNO), high-speed video microscopy analysis (HSVMA), genotyping and transmission electron microscopy (TEM). There are few published data on the accuracy of this approach.Using prospectively collected data from 654 consecutive patients referred f...
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ژورنال
عنوان ژورنال: American Journal of Respiratory and Critical Care Medicine
سال: 2017
ISSN: 1073-449X,1535-4970
DOI: 10.1164/rccm.201607-1351oc