National Repository of Grey Literature 4 records found  Search took 0.01 seconds. 
Dolichol content analysis by mass spectrometry in urine from patients with congenital disorders of glycosylation
Zdražilová, Lucie ; Hansíková, Hana (advisor) ; Kohoutová, Michaela (referee)
Dolichol is a membrane lipid, which carries monnosaccharides and glycans for N-linked protein glycosylation and glycosylphosphatidylinositol-anchor biosynthesis occuring in endoplasmic reticulum. Its structure is composed of isoprenoid units. Dolichol is present in all tissues and in most of the membrane organelles of eukaryotic cells. Recently some types of congenital disorders of glycosylation have been described as a consequence of dolichol biosynthesis and metabolism defects, which are not detectable by standard methods. The aim of this diploma thesis was to analyze dolichol content in urine and in different tissues from patients with deficiency in dolichol biosynthesis by mass spectrometry and to study the impact of these defects on energetic metabolism. Biological material for this study consisted of urine samples from 76 controls with age ranging from 1 months to 81 years, 6 patients with congenital disorders of glycosylation and 43 patients with suspicion of congenital disorder of glycosylation; samples of frontal cortex, liver, muscle and heart tissues from 2 patients with mutation in NUS1 gene and controls. Urine samples were stored at -20 řC and tissue homogenates were stored in -80 řC until analysis. Lipid fraction after extraction was separated by liquid chromatography. Dolichols were...
Congenital disorders of glycosylation: alpha -dystroglycanopathies
Zdražilová, Lucie ; Hansíková, Hana (advisor) ; Kubíčková, Božena (referee)
Alpha-dystroglycanopathies are inherited autosomal recessive diseases belonging both to the group of hereditary muscular dystrophies and the congenital disorders of glycosylation. Currently there are 20 genes of which are known to lead to this disease. Alpha-dystroglycan is a membrane protein which is at its mucin domain posttranslationally modified with oligosaccharide chains O-glycosidically bound via mannose. Defective biosynthesis of oligosaccharide chains leads to hypoglycosylation of alpha-dystroglycan, which loses its ability to bind to the laminin G-domain of ligands in extracellular matrix. This hypoglycosylation leads to the group of diseases called alpha-dystroglycanopathies. The most severe forms of alpha-dystroglycanopathies manifest with muscular dystrophy, ocular malformations and defects of central nervous system. Milder forms of this disorder may manifest only with muscular dystrophy without other clinical symptoms. Diagnosis of alpha-dystroglycanopathy is difficult due to the lack of standardly available biochemical methods, which would facilitate the targeting of the investigation process before molecular genetic analysis. The aim of the present study was to provide an overview of alpha-dystroglycanopathies focusing on the structure, alteration and pathology of...
Development of the construction of residential properties in Žďár nad Sázavou
Zdražilová, Lucie ; Šestáková, Romana (referee) ; Klika, Pavel (advisor)
The main task of this thesis is to describe the development of residential properties in Žďár nad Sázavou. In the first part of the thesis describes the history of the location to the present. The second part is the development of construction is divided into several time periods, which describe in detail the development of the locality. Part of it is devoted to the historical city center. After describing the each time periods followed by a list of most residential properties. The work is accompanied by a map of the development of the urbanistic structure of town marked with residential buildings that are being solved. The last chapter is devoted to the future development of construction and overall assessment of the location.
Preparedness of Teachers in the Area of Population Protection
Zdražilová, Lucie ; Menšík, Miroslav (referee) ; Kremlička, Antonín (advisor)
Theme of my bachelor´s thesis is Preparedness of Teachers in the Area of Population Protection. Because people are more often exposed of emergency cases is important to know how to behave in these incidents. Only well educated citizen will able to minimalize consequevences. It is important to start to educate children on primary school, high school and university. That is why we need well educated and well informed pedagogues. In first part I delt with characterization of civil protection and with history in our country. After that I descripted the legislature of those problems. In next part I decribed individual organization which provide training for pedagogues. In the last part I dedicated and rewiewed about the current situation and about future development.

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2 Zdražilová, Lenka
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