National Repository of Grey Literature 50 records found  1 - 10nextend  jump to record: Search took 0.02 seconds. 
Role of Next Generation Sequencing in Diagnostics and Prognosis of X-linked Lysosomal Storage Disorders
Řeboun, Martin ; Dvořáková, Lenka (advisor) ; Fajkusová, Lenka (referee) ; Krejčí, Jan (referee)
The characterisation of the molecular-genetic etiology of monogenic diseases includes not only the identification of the pathogenic variant, but also the description of its effect on the RNA structure and stability. Additionally, the X-inactivation plays an important role in X-linked diseases. In the presented thesis, we applied the methods of next generation sequencing to study three lysosomal disorders (mukopolysacharidosis type II, MPS II; Danon disease, DD; Fabry disease, FD). Two methodological approaches have been used: 1) panel sequencing with hybridization probes for identification of single nucleotide variants, small deletions/duplications and structure variants (CNVs) 2) amplicon sequencing for analysis of somatic mosaicism and allele specific expression. The panel sequencing enabled us to confirm the molecular-genetic basis of DD in two patients with the identification of two exons duplication and five exons deletion in LAMP2, respectively. The somatic mosaicism was being analyzed by the amplicon sequencing in families with DD, MPS II. We could identify the first case of somatic mosaicism in a patient with DD. The allele specific expression has enlarged the group of methods used in X-inactivation analysis. Its impact has been proved particularly in minimizing misinterpretation of XCI...
Phenomenon Cimrman
Krejčí, Jan ; Mocná, Dagmar (advisor) ; Peterka, Josef (referee)
The introduction of this diploma thesis summarizes the production of , and it identifies the two following layers of authorship. The first layer is the fictional authorship of Jara Cimrman; the second layer is the authorship of the Cimrmanologists and their so-called (or fictional) reconstructions of Cimrman's work. The introduction further discusses the importance of the radio show , which gave birth to the character of Jara Cimrman. Finally, the introduction analyses various aspects of Cimrman and his mystifying character. The core of this thesis consists of an analysis of Cimrman and his relation to Czech Dream. It also studies the Czech dream and its development. The second chapter provides a study based on the play , which is looking at the relation between Cimrman and Czech history and the national myth. The beginning of this chapter offers an overview of the history of the . The chapter then continues with an analysis of Cimrman's play with a special attention to its unusual political dimension. The third chapter studies the connections between Cimrman, or his creators, and Czech national consciousness and Czech culture as they are reflected in Cimrman's play . The play is set in the context of Kainar's poem , Klusak and Remunda's film , Macura's essay , and Kaspar's book .
Novel echocardiographic and magnetic resonance methods in diagnostics of cardiac amyloidosis.
Fikrle, Michal ; Paleček, Tomáš (advisor) ; Hutyra, Martin (referee) ; Krejčí, Jan (referee)
Amyloidosis is a term used for a whole group of diseases caused by deposition of a substance called amyloid into different tissues. Amyloid may be produced by a range of pathologic processes. Heart affliction is typical for only several types of amyloidoses. Heart involvement is then the patient`s prognosis major limiting factor. Diagnosis of heart amyloidosis is difficult especially for nonspecific symptoms and nonspecific findings obtained during common diagnostic procedures. The aim of this thesis was to evaluate usefulness of novel diagnostic methods, namely cardiac magnetic resonance with gadolinium enhancement and a simplified echocardiographic evaluation of left ventricular longitudinal strain, in diagnosing amyloid cardiomyopathy. In our first study we examined 22 patients with light chain amyloidosis by echocardiography and also with cardiac magnetic resonance with late gadolinium enhancement. We compared morphologic and functional parameters acquired by magnetic resonance examination, which is considered a gold standard for morphologic and functional measurements, with values obtained by echocardiographic measurement. Afterwards we evaluated the presence and eventually pattern of late gadolinium enhancement during cardiac magnetic resonance exam. From acquired data we conclude that the...
Rekonzervace v minulosti podlepených historických textilií: Metodika projektu Ministerstva kultury ČR NAKI II „Vývoj metod podlepování historických textilií“
Bureš Víchová, Jana ; Drábková, Klára ; Krejčí, Jan ; Škrdlantová, Markéta
Při restaurování textilních předmětů se můžeme setkat s předměty, které byly v minulosti podlepeny, ať již přímo při výrobě (vějíře, závěsné svitky, obuv, apod.) nebo při přechozím restaurátorském zásahu. V obou případech může nastat nutnost jejich rekonzervace, ať již kvůli špatnému stavu lepeného spoje nebo nevhodně použitému adhezivu, apod. Rekonzervaci v minulosti podlepeného předmětu musí předcházet důkladný průzkum, aby bylo možno kvalifikovaně rozhodnout o nutnosti takovéhoto zásahu. Metodika nabízí možnosti identifikace v minulosti použitých adheziv a návrhy vhodných rozpouštědlových systémů a metod aplikace pro jejich odstranění.
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Podlepování historických textilií: Metodika projektu Ministerstva kultury ČR NAKI II „Vývoj metod podlepování historických textilií“
Krejčí, Jan ; Škrdlantová, Markéta ; Drábková, Klára ; Bureš Víchová, Jana
Metodika doporučuje a popisuje konkrétní metody podlepování vhodné pro konzervování-restaurování historických textilií, a to s využitím v současné době dostupných adheziv a podkladových materiálů. Doporučení jsou v práci podložena výsledky rozsáhlého výzkumu, který byl proveden na Ústavu chemické technologie restaurování památek na Vysoké škole chemicko-technologické v Praze.
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Genetic and clinical correlates in hypertrophic cardiomyopathy
Čurila, Karol ; Gregor, Pavel (advisor) ; Málek, Ivan (referee) ; Krejčí, Jan (referee)
Hypertrophic cardiomyopathy (HCM) is a hereditary disease, which is caused by mutations in genech coding for proteins of carcomere of heart muscle. Disease is characterised by wide genotypic and fenotypic heterogeneity. Since the 90-th of 20-th century, when the first mutation responsible for HCM was identified, many research was done in detecting the correlation between mutant gene and clinical picture of the affected patient. As the first in Czech republic, we determined the frequencies of 4 most common genes in HCM in czech patients. We figured out, that spectrum of mutations is somehow different from another populations. We didn't find any correlation between specific gene mutation and morfologic and clinical characteristics of affected subjects. In our study with AT-1 receptor blocker - candesartan, we demostrated positive effect of candesartan on level of hypertrophy and function of the left heart ventricle and clinical symptoms of the patients with HCM.
Possibilities and limits of tobacco dependence counseling and smoking cessation among patients in the medium-term alcohol addiction residential treatment
Krejčí, Jan ; Kulhánek, Adam (advisor) ; Volfová, Anna (referee)
Background: Despite most studies have long term and repeatedly confirmed that the prevalence of smoking among individuals treated with other primary addiction is two to four times higher than in the general population, most services do not provide some form of smoking cessation. Smoking cessation is not clearly grounded in these services. An important aspect for the integration and implementation of smoking cessation programs in addiction treatment services are opinions and attitudes of the workers themselves. These opinions and attitudes are very often ambivalent and perceived as controversial. Attitudes and opinions can determine the possibilities and limits of working with the smoking cessation during the treatment of other primary addictions. Aims: The study has four research objectives that reflect the results of theoretical-critical analysis. To map the opinions and attitudes of employees of medium-term institutional treatment of addiction to the smoking cessation within the issue of other primary addiction. To find out whether workers in medium-term institutional treatment for addiction perceive smoking as less harmful than the use of other addictive substances. To determine whether workers in medium-term institutional treatment for addiction perceive smoking cessation as part of the...
Mobile Application "Paramedic doggy" - Unexpected Event
Krejčí, Jan ; Milet, Tomáš (referee) ; Chlubna, Tomáš (advisor)
The aim of this thesis is to design and implement a simple educational mobile application for children which, in the form of a game, shows how to proceed in a model emergency situation (train accident). Firstly, the thesis describes general principles of providing first aid in an emergency situation as well as its training. Secondly, the thesis clarifies characteristic features of educational digital games, analyses already existing solutions and describes Unity game engine. Based on information acquired so far, the educational game is designed and implemented in Unity. The method and the results of the testing are presented in the conclusion. The final version of the game is ready for publishing.
Milling machine CNC control
Krejčí, Jan ; Benešl, Tomáš (referee) ; Bradáč, Zdeněk (advisor)
This diploma thesis deals with rebuild of manual drill-mill machine BF20L into CNC mill machine, 3D model of that and eventual control using PLC. All axes are powered by stepper motors, with encoders, connected to control cards and industrial computer from company Beckhoff. For this control is made full switchboard, supplemented by electrical wiring diagram. Program control along with visualization is made in software TwinCAT 3. Drill-mill machine can be controlled manually or automatically by program.
New diagnostic and therapeutic aspects of inflammatiory cardiomyopathy
Kuchynka, Petr ; Šimek, Stanislav (advisor) ; Krejčí, Jan (referee) ; Gregor, Pavel (referee)
Introduction: Inflammatory cardiomyopathy (DCMi) represents a non-familial form of dilated cardiomyopathy (DCM) and endomyocardial biopsy (EMB) is crucial for its diagnosis. Aims: To assess the prevalence of DCMi in patients with DCM of unclear origin, to evaluate the significance of serological tests for antibodies against infectious cardiotrophic agents and to analyze the effect of specific therapy guided by EMB results. Methods: EMB was performed in 56 subjects (mean age 52 ± 10 years) with DCM of unclear etiology and left ventricular (LV) ejection fraction (EF) < 40% with a history of heart failure less than 1 year. EMB samples were analyzed by immunohistochemistry, polymerase chain reaction (PCR) and electron microscopy. Results: Immunohistochemical examination revealed myocardial inflammation in 26 patients (46%), the PCR method detected genome of microbial agents in 32 patients (57%). Electron microscopy showed the presence of particles of microbial agents in 41 patients (73%). Serological blood tests found no IgM antibody positivity against any of the investigated microbial agents. Targeted antibiotic therapy in patients with evidence of Borrelia burgdorferi (Bb) genome in the EMB led to a reduction in LV size, improvement of LV EF and alleviate symptoms of heart failure. Conclusion: DCMi...

National Repository of Grey Literature : 50 records found   1 - 10nextend  jump to record:
See also: similar author names
28 KREJČÍ, Jan
7 KREJČÍ, Jana
1 KREJČÍ, Joel
28 Krejci, Jan
3 Krejčí, J.
16 Krejčí, Jakub
7 Krejčí, Jana
3 Krejčí, Jarmila
2 Krejčí, Jaroslav
4 Krejčí, Jindřich
1 Krejčí, Jitka
13 Krejčí, Jiří
2 Krejčí, Johana
5 Krejčí, Josef
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