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Characterization of promoter regions of HGSNAT and GBA genes, and a contribution to the study of pathogenesis of MPS IIIC and Gaucher disease
Richtrová, Eva ; Hřebíček, Martin (advisor) ; Macek, Milan (referee) ; Adam, Tomáš (referee)
Pathogenesis of mucopolysaccharidosis type IIIC (MPS IIIC) and Gaucher disease has not been yet fully clarified, and the causes of phenotypical variability between the patients with the same genotype in Gaucher disease remain obscure. Because the variants in the regulatory regions of genes can cause phenotypical differences mentioned above, I have studied promoter regions of HGSNAT and GBA genes mutated in these lysosomal disorders. I have shown that there is an alternative promoter of GBA (P2). Additional studies were aimed to elucidate possible physiological functions of P2, and its possible role in the pathogenesis of Gaucher disease. I have found that P2 is not tissue specific, and that its variants do not influence the variability of phenotype in Gaucher patients with the same genotype. P2 is used differentially neither during the differentiation of monocytes to macrophages nor in macrophages from controls and Gaucher patients, in whom there is a prominent storage only in cells of macrophage origin. We have thus not found any changes that would suggest a role for P2 in the pathogenesis of Gaucher disease. I have characterized the promoter region of HGSNAT and shown that the binding of Sp1 transcription factor is important for its expression. Sequence variants found in HGSNAT promoter in...
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Changes in central reactibility during thermal stimulation monitored by electromagnetic tomography (sLORETA)
Richtrová, Eva ; Pánek, David (advisor) ; Nováková, Tereza (referee)
Title: Changes in central reactivity during thermal stimulation monitored by electromagnetic tomography (sLORETA) Objectives: The objective of this thesis is to determine whether there are any changes in central reactivity during local thermal stimulation by heat and cold and to compare the effect of analgesic electrical stimulation by TENS (Transcutaneous Electrical Nerve Stimulation) applied after single thermal stimuli. The brain activity was scanned from the scalp EEG and the results were evaluated by using sLORETA program. Methods: Twelve young, healthy people over the age of 21 participated in this study. The requirement for the participation in this experiment was good health condition without any neurological or other diagnoses. The electrical activity of the brain was being recorded throughout the whole experiment using a 32-channel EEG cap. The measurement had multiple parts. During the whole experiment, the participants were lying on the therapeutic table and all stimuli were applied locally to the right hand. Firstly, the EEG was recorded while participants were resting with closed eyes for five minutes. Then we realized a measurement of a two-minute long application of electrical stimulation of TENS in above-threshold sensitive intensity, which was individual for each participant. The...
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Possible evaluations of respiratory parameters in physiotherapy using Multiple Breath Washout
Richtrová, Eva ; Zelenková, Jana (advisor) ; Koucký, Václav (referee)
The thesis presents a new method called Multiple Breath Washout (MBW) and its use in the assessment of breathing parameters in physiotherapy. The MBW evaluates respiratory parameters based on the washout of inert gas from the lungs and is applicable to all age categories. The theoretical part briefly summarizes the findings about the respiratory system and the types of functional lung examination, where spirometry is described and the larger part is devoted to less known method of Multiple Breath Washout. In the practical part, a preliminary study is carried out on two patients diagnosed with cystic fibrosis. The patients were examined and measured before and after a thirty minutes physiotherapy. The effect was measured by both methods - spirometry and Multiple Breath Washout. The aim of this thesis is to evaluate of short-term effect of physiotherapy on patients with chronic respiratory diseases.
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Characterization of promoter regions of HGSNAT and GBA genes, and a contribution to the study of pathogenesis of MPS IIIC and Gaucher disease
Richtrová, Eva ; Hřebíček, Martin (advisor) ; Macek, Milan (referee) ; Adam, Tomáš (referee)
Pathogenesis of mucopolysaccharidosis type IIIC (MPS IIIC) and Gaucher disease has not been yet fully clarified, and the causes of phenotypical variability between the patients with the same genotype in Gaucher disease remain obscure. Because the variants in the regulatory regions of genes can cause phenotypical differences mentioned above, I have studied promoter regions of HGSNAT and GBA genes mutated in these lysosomal disorders. I have shown that there is an alternative promoter of GBA (P2). Additional studies were aimed to elucidate possible physiological functions of P2, and its possible role in the pathogenesis of Gaucher disease. I have found that P2 is not tissue specific, and that its variants do not influence the variability of phenotype in Gaucher patients with the same genotype. P2 is used differentially neither during the differentiation of monocytes to macrophages nor in macrophages from controls and Gaucher patients, in whom there is a prominent storage only in cells of macrophage origin. We have thus not found any changes that would suggest a role for P2 in the pathogenesis of Gaucher disease. I have characterized the promoter region of HGSNAT and shown that the binding of Sp1 transcription factor is important for its expression. Sequence variants found in HGSNAT promoter in...
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The Concept of Discipline in Ancient Philosophy and Drama
Richtrová, Eva ; Blažková, Miloslava (advisor) ; Hauser, Michael (referee)
Prvotní předpoklad, který měl vést vymezení role řádu v antické filosofii a dramatu, byl realizován prostřednictvím děl Aristotela, rozborem tragédie od Sofokla a Euripida v komparaci s komedií od Menandra. Řád byl postupně vymezen ve vztahu k mýtu, v metafyzickém a etickém smyslu. Ukázal se také jeho vztah estetice, kde se vyjevuje jako jakýsi model pro výstavbu dramatu. Rovněž ho můžeme zachytit v tragédii a komedii, kde se konkretizuje v podobě nejvyššího zákona. Lidskou bytost zabývající se v mýtem, může svým způsobem považována za "filosofa", který se osobitým způsobem snaží popsat dění ve světě, jež ho obklopuje. Jeho pochopení všech souvislostí je však do značné míry naivní, protože přírodní jevy a zákonitosti vykládá prostřednictvím antropomorfních představ. Mýtus vypovídá o tom, že svět kolem nás je plný záhad, které dokážeme v rámci vlastního uspokojení ne vždy zcela úspěšně vyřešit. Teprve pozvolna se údiv člověka transformoval ve schopnost odpovídat na otázky, které před něj staví příroda, bez pomoci božského zásahu do lidského světa.
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