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National Repository of Grey Literature 2 records found  Search took 0.01 seconds. 
Pathophysiological and clinical aspects of cardiac dyssynchrony in children and adolescents
 Kovanda, Jan ; Janoušek, Jan (advisor) ; Bulava, Alan (referee) ; Klásková, Eva (referee)
Pathophysiological and clinical aspects of cardiac dyssynchrony in children and adolescents Electromechanical dyssynchrony is an important factor in the development of heart failure. It is caused by abnormal activation of the working myocardium in case of bundle branch block or ventricular pacing. Asymmetric hypertrophy of the affected ventricle develops together with its dilatation and reduced function and fulfils the picture of dyssynchronous cardiomyopathy. The development of dyssynchronopathy can be prevented by careful selection of the permanent pacing site and treated by cardiac resynchronization therapy. One of the aims of this work was to compare clinical and echocardiographic findings in patients paced from the left-ventricular apex with the healthy population. Using a retrospective cross-sectional study, we have proved that left ventricular function is not adversely affected in long-term follow-up. Another aim of the study was to evaluate the long-term results of resynchronization therapy of the systemic ventricle in patients with congenital heart defects. Using a retrospective study, we have described an acceptable long-term survival at the price of relatively frequent complications. We were extensively working on a new method of resynchronization of the right subpulmonary ventricle in...
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Application of whole-exome sequencing methods for the study of rare inherited diseases
 Piherová, Lenka ; Kmoch, Stanislav (advisor) ; Sedláček, Zdeněk (referee) ; Tichý, Boris (referee)
Rare diseases (RD) are a heterogeneous group of diseases that affect about 5% of the world population. RDs represent more than 7.000 different phenotypes and many of them are genetically determined. RDs provide unique biological models for understanding the basic principles of molecular and cellular organization and function of human tissues and organs. Results of studies focused at pathogenesis of RDs are often used to diagnose and treat the affected patients. Significant progress in molecular genetic techniques, specifically the use of the next generation sequencing (NGS) in clinical practice, substantially facilitated and improved efficiency of RD laboratory diagnostics. Moreover, these novel testing algorithms identified the previously unknown molecular causes of many RDs. This thesis demonstrates the utility of NGS techniques and bioinformatics processing of obtained data in studies aimed at understanding molecular basis of selected RDs. These methods led to identification and characterization of causative pathogenic variants in the NDUFAF6 and PLD1 genes among patients affected by the Acadian variant of Fanconi disease and patients with a rare congenital heart defect, respectively. This approach was further used to analyze exomes of a large cohort of patients with different types of...
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