Primary ciliary dyskinesia
Identifikátory výsledku
Kód výsledku v 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>
Nalezeny alternativní kódy
RIV/00216208:11130/14:10293206
Výsledek na webu
<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>
Alternativní jazyky
Jazyk výsledku
angličtina
Název v původním jazyce
Primary ciliary dyskinesia
Popis výsledku v původním jazyce
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
Název v anglickém jazyce
Primary ciliary dyskinesia
Popis výsledku anglicky
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
Klasifikace
Druh
J<sub>x</sub> - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
CEP obor
FG - Pediatrie
OECD FORD obor
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Návaznosti výsledku
Projekt
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Návaznosti
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Ostatní
Rok uplatnění
2014
Kód důvěrnosti údajů
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Údaje specifické pro druh výsledku
Název periodika
Breathe
ISSN
1810-6838
e-ISSN
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Svazek periodika
10
Číslo periodika v rámci svazku
2
Stát vydavatele periodika
CH - Švýcarská konfederace
Počet stran výsledku
10
Strana od-do
123-133
Kód UT WoS článku
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EID výsledku v databázi Scopus
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