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New approaches to determination pathophysiological changes in patients with cystic fibrosis
Doušová, Tereza ; Dřevínek, Pavel (advisor) ; Kreslová, Marcela (referee) ; Gayillyová, Renata (referee)
New approaches to determination pathophysiological changes in patients with cystic fibrosis Cystic fibrosis (CF) is a life-limiting disease caused by mutation in the cystic fibrosis transmembrane regulator (CFTR) gene. To date, more than 2,000 mutations in the CFTR gene have been described, of which only 360 are directly related to CF. In a group of patients carrying mutations of unknown or variable clinical significance, it may be difficult not only to diagnose CF but also to facilitate clinical studies to determine the efficacy of new low - molecular weight compounds targeting disrupted CFTR protein. These so-called CFTR modulators have opened a new era in causal treatment of CF. To maximize the effect of these new therapies, not only the patient's genotype, but also the individual rate of response is crucial. In recent years, intestinal organoids have been used as an ex vivo model to determine the degree of CFTR function and at the same time to predict the therapeutic response to available therapeutic molecules. In our project, using the patient's native tissue and cultures of intestinal organoids derived from this tissue, we demonstrated varying degrees of CFTR residual function in a total of 14 patients with CF (0-39.7% of healthy control function). We characterized de novo mutation of the CFTR gene in...
Cardiovascular Risks in Chronic Airway Disease in Childhood
Kreslová, Marcela ; Sýkora, Josef (advisor) ; Fila, Libor (referee) ; Kopřiva, František (referee)
1 Cardiovascular risks in chronic airway disease in childhood The aim of this thesis was to evaluate cardiovascular risk by using a combined diagnostic approach by measuring RHI and specific biochemical markers in patients with chronic respiratory disease, where we could assume a possible risk of CVD. A total of 119 probands were examined, including 22 patients with cystic fibrosis (CF) and 52 asthma patients. We evaluated RHI using a new plethysmographic method that has a number of advantages over the ultrasonographic methods used in other studies, including non-invasiveness, high sensitivity, low biological variability and objectivity due to automatic processing. Of the biochemical parameters, we measured 4 biomarkers in relation to endothelial dysfunction (ED): hsCRP, ADMA, E-selectin, and VCAM-1. We compared RHI and biomarkers in CF and asthma patients with healthy controls and sought mutual correlations. We did not prove a statistically significant difference in RHI between the test groups with CF children but we confirmed the decreasing trend of RHI since adolescence and significantly lower RHI values in CF adults, confirming the progressive development of atherogenesis and worsening of ED with age. Biochemical parameters showed significantly higher levels of hsCRP, sVCAM-1 and E-selectin in CF...

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2 KRESLOVÁ, Michaela