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Evaluation of neonatal laboratory screening efficacy in the Czech Republic and its improvements
David, Jan ; Votava, Felix (advisor) ; Černá, Marie (referee) ; Škvor, Jaroslav (referee)
INTRODUCTION: Newborn laboratory screening is a process used for early detection and treatment of selected rare diseases which leads to improvement in patient quality of life. All diseases included in newborn laboratory screening are classified as rare diseases, defined by a population frequency less than 1:2 000. The evaluation of newborn laboratory screening is an important tool for its improvements. The main aim of this doctoral thesis was to evaluate clinical and population-wide efficacy and balance detection rate and impact on healthy part of population. METHODS: The doctoral thesis was based on results from screening laboratories in period 2002-2017 in the Czech Republic. Dried blood spots from newborns were analyzed using fluorescence immuno-assay, tandem mass spectrometry and fluorimetry. RESULTS: The outcomes of this doctoral thesis led (1) to objectify prevalence of rare diseases in the Czech Republic, (2) to objectify association between prevalence of screened diseases and newborn birthweight, (3) to propose the change of decision limits of screening of 21-hydroxylase deficiency with aim to decrease high false positivity and negative impact on health part of population, (4) to define recommendations for managing of patients screened as positive in the 21-hydroxylase deficiency newborn...
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Retroviral infection of chicken testicular cells in a process of construction of transgenic poultry
Kalina, Jiří ; Škvor, Jiří (advisor) ; Petr, Jaroslav (referee) ; Jílek, František (referee)
Biotechnological research in chicken transgenesis is still lagging beyond the mammals mainly due to the specificities of avian reproductive system. This thesis is trying to offer functionally complex approach to the chciken transgenesis through one of the techniques. Common transfection techniques were applied on chicken blastodermal and testicular cells to affirm this approach. Our original techniqe of sterilization of chicken testes was improved and applied. Stained testicular cells of donor male were transplanted into sterilized acceptors testes and subseqent tubuli recolonization and sperm production were described. The retroviral- based vector was developed and transplanted testicular cells were successfuly infected. Carried marker transgene (Green fluorescence protein, GFP) was detected in DNA of produced sperms and no significant CpG methylation was detected when sreening infected cells. Through the flow cytometry, testicular cells used for transplantation were analyzed. All major spermatogonia-derived populations were described including the side population (SP), possible group of spermatogonial stem cells.
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Genetic and Proteomic Screening in Patients with Cardiovascular Disease.
Šímová, Jana ; Škvor, Jiří (advisor) ; Gregor, Pavel (referee) ; Čurila, Karol (referee)
The aim of this study is to analyse a genetic and proteomic aspects that could play an important role in development of chosen cardiovascular disease. Matrix metalloproteinases are enzymes that contribute strongly to the degradation of extracellular matrix components. In this study the serological levels of MMP-2 and MMP-9 were investigated using immunological testing in patients with aortic valve disease and in patients with myocardial infarction. Significantly higher levels of MMP-2 and MMP-9 were determined in both above mentioned groups of patients. Association of serum levels of MMP-2 and MMP-9 and development of concomitant aortic dilatation was not confirmed in patients with aortic valve disease. Changes in serum levels within 24 hours and after 6 months post myocardial infarction were characterized. About 10 % of patients operated for aortic valve disease suffer simultaneously from ascending aortic dilatation. The current study did not reveal any significant genetic variation in TGFBR2 gene and in chosen exons of FBN1 gene in these patients. Further genetic research is needed to identify the cause of the pathology in aortic wall. Gene expression of selected genes was measured by microarray screening in patients with myocardial infarction. These genes were related to MMPs and did not show...
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