Primary ciliary dyskinesia
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F14%3A10293206" target="_blank" >RIV/00064203:_____/14:10293206 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/14:10293206
Result on the web
<a href="http://dx.doi.org/10.1183/20734735.007413" target="_blank" >http://dx.doi.org/10.1183/20734735.007413</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1183/20734735.007413" target="_blank" >10.1183/20734735.007413</a>
Alternative languages
Result language
angličtina
Original language name
Primary ciliary dyskinesia
Original language description
Primary ciliary dyskinesia (PCD) is a rare heterogeneous genetic disorder affecting ciliary function. Genes coding for various ciliary structural proteins or cytoplasmic proteins responsible for the assembly of cilia can be mutated resulting in abnormalciliary function. However, despite the diversity of genotypes that can cause PCD the clinical phenotypes of PCD are all remarkably similar. The main clinical symptoms are caused by a lack of mucociliary clearance. Worryingly many patients are diagnosed late despite their classical, lifelong symptoms of a daily wet sounding cough and rhinosinusitis. Even when PCD is suspected, poor access to specialist diagnostic centres may delay diagnosis. Currently, diagnostic testing includes screening of nasal nitric oxide, followed by nasal brushing to obtain ciliated epithelial strips for high-speed video analysis of ciliary function. This is typically followed by transmission electron microscopy and in difficult cases by ciliated cell culture. Em
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FG - Paediatrics
OECD FORD branch
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Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2014
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Breathe
ISSN
1810-6838
e-ISSN
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Volume of the periodical
10
Issue of the periodical within the volume
2
Country of publishing house
CH - SWITZERLAND
Number of pages
10
Pages from-to
123-133
UT code for WoS article
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EID of the result in the Scopus database
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