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Development of cardiovascular system function in patients with a functionally single ventricle
Materna, Ondřej ; Janoušek, Jan (advisor) ; Klásková, Eva (referee) ; Urbanová, Zuzana (referee)
Development of cardiovascular system function in patients with a functionally single ventricle. Abstract Total cavopulmonary connection (TCPC) is the only possible surgical palliative procedure in patients with a functionally single ventricle. It consists of the stepwise anastomosis of both caval veins with pulmonary arteries, creating a unique situation of so-called Fontan circulation, where the separation of the pulmonary and systemic circuit is traded for chronically elevated systemic venous pressure and impaired cardiac output increase during exercise. We aimed to evaluate long-term results and development of exercise capacity in the population of patients with TCPC in the Czech Republic, possible predictors of their survival and functional outcome, as well as analysis of permanent cardiac resynchronization as one of the new treatment options for dysfunction of the single ventricle. We present a retrospective study of all consecutive patients in the Czech Republic identified in the nationwide single-centre institutional database and matched with the National Death Registry and Cardiovascular Intervention Registries. We proved that overall mean survival probability until composite end-point of death, TCPC take- down or indication for a heart transplant was 92.9 % at 20 years after the operation. TCPC...
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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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Assessment of influence of physiotherapy on cardiopulmonary system in children with congenital heart defect
Kopecká, Anežka ; Radvanský, Jiří (advisor) ; Tetřevová, Lenka (referee)
The aim of the study was to compose and realize physiotherapeutic program for children with congenital heart disease to improve their postural-respirational function and to assess the influence of this program on cardiopulmonary functions of the patients. Our group had five patients with mean age of 15,6 years. Each of them underwent initial examination of the motor system, spirometry and spiroergometric exercise test. Physiotherapeutic program consisted of 8 individual therapies and home-based exercise. Therapy was composed from manual techniques, exercise according to Dynamic neuromuscular stabilisation concept and exercise with inspiratory trainer and improvised PEP system. The final examination was performed in the same manner as the initial one. We compared the results of both examinations, but we found no significant improvement after the physiotherapeutic program.
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