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National Repository of Grey Literature 2 records found  Search took 0.00 seconds. 
Primární ciliární dyskineze :: nové přístupy k diagnostice a epidemiologii : závěrečná zpráva
Svobodová, Tamara ; Djakow, Jana ; Univerzita Karlova.
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Aspects of identification of patients with primary ciliary dyskinesia
 Djakow, Jana ; Cinek, Ondřej (advisor) ; Vízek, Martin (referee) ; Panczak, Aleš (referee)
Primary ciliary dyskinesia (PCD) is a rare but underdiagnosed genetic disease. This innate disorder of motile cilia causes a non-functional mucociliary clearance which is the main reason for a clinical picture of recurrent or chronic upper and lower respiratory tract infections. Fertility disorders or abnormal organ situs can also be found in some patients. The diagnosis of PCD is extremely complicated and complex. A combination of several diagnostic procedures as well as skilled personnel and special technical equipment are usually needed for the PCD diagnostics. Although significant progress has been made in understanding the PCD etiopathogenesis and the advanced diagnostics has become available, therapeutic possibilities are rather limited and the treatment efficiency still remains to be confirmed by the evidence base medicine. The dissertation thesis assembles several publications in which different aspects of primary ciliary dyskinesia were addressed. The most extensive part of our research addressed rapidly evolving possibilities of PCD genetic diagnostics. We studied possibility of priority sequencing of several segments of the genes DNAH5 and DNAI1 which were known to be the most frequently mutated genes in the PCD patients at the time of the study. We proved this method being able to...
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