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Molecular genetic analysis of the causes of selected hereditary forms of colorectal polyposis
Florianová, Martina ; Kohoutová, Milada (advisor) ; Křepelová, Anna (referee) ; Vodičková, Ludmila (referee)
Colorectal cancer (CRC) is one of the most common cancers worldwide. Hereditary colorectal adenomatous polyposis syndromes are a predisposition to colorectal carcinoma development. The most common analyzed syndromes are familial adenomatous polyposis (FAP) that results from germline mutations in the APC gene and MUTYH - associated polyposis (MAP) caused by germline mutations in the MUTYH gene. The aim of this study was to clarify genetics causes of colorectal polyposis in a set of probands without the germline mutation in the APC gene. Within studyʼs scope the presence of large deletion in APC gene was tested, there was looked for germline mutations in MUTYH gene, alternatively germline mutations in MSH6 gene by probands with monoallelic MUTYH mutation, item there was tested an effect of detected APC variants on gene expression. Screening for large deletions was performed by multiplex ligation dependent probe amplification (MLPA). A set of 120 APC-negative probands was examined for the presence of germline MUTYH mutations by denaturing high performance liquid chromatography (dHPLC). Subsequently a set of 145 APC-negative probands was screened only for germline MUTYH mutation in exon 7 and 13 by high resolution melting (HRM) analysis. Analysis of the effect on expression was tested by ten APC...
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IL 57 - Sporadic colorectal cancer: From genetic make-up to complex phenotypic measurement, from risk determination to prognostic markers
Vodička, Pavel ; Slyšková, Jana ; Pardini, B. ; Naccarati, A. ; Souček, P. ; Vodičková, Ludmila ; Vymetálková, Veronika ; Svoboda, Miroslav ; Foersti, A. ; Hemminki, K.
Colorectal carcinogenesis (CRC), is a complex process, resulting in both genomic and chromosomal instabilities. The valid theories of carcinogenesis accent either the role of somatic mutation or the surrounding microenvironment, however neither of them explains all features of cancer. Uncontrolled proliferation and genomic instability point to the DNA damage response and repair as to the key players. In the present study, we will overview several biomarkers in mapping heterogeneous complex CRC disease and providing prognostic information.\nVariants in genes involved in important pathways, such as DNA repair, cell cycle control, folate metabolism and methylation, insulin resistance and obesity, ABC transporters, selenoprotein genes, genes involved in inflammatory/immune response have shown various degree of association with CRC risk. We present also the data on mutations in high risk genes involved in colorectal carcinogenesis. Gene expression levels were determined in relevant pathways and complemented with other important parameters (epigenetic regulators of transcription by methylation). Additionally, the role of post-transcriptional regulation via miRNA or lncRNA was investigated in relation to the risk of CRC and the efficacy of chemotherapy. We have discovered several genetic and epigenetic markers affecting independently the prognosis of CRC. Functional DNA repair tests (complex phenotype) have been implemented as markers of individual susceptibility to sporadic CRC and its prognosis.\nAn application of the whole set of various biomarkers is inevitable to define the phenotypic landscape of the disease and to delineate the individual response to the therapy.\n
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Patterns of alcohol use among women on parental leave living in Prague
Vodičková, Ludmila ; Šťastná, Lenka (advisor) ; Doležalová, Pavla (referee)
Backround: Research shows that drinking among women on parental leave is a serious social problem. Women on parental leave can be considered as a group which is vulnerable to addictive behavior. Aims: The aim of this work was to map the situation of alkohol use among women on parental leave living in Prague. There have been set four research questions: 1. What is the prevalence of alcohol use among women in the sample? 2. Do the women on parental leave change their drinking habits over time? 3. Do the women on parental leave feel that parenting is kind of protection against drinking too much alcohol or, on the contrary, they feel that it could be risk factor which can lead to drinking? 4. What are the patterns of alcohol use for women on parental leave in Prague? Methods: Data for research part of this work was obtained using a quantitative questionnaire. The questionnaire was distributed among respondents via the internet. The sample of respondents was conducted through method of self-selection. The results were analyzed using basic descriptive statistics in excel. Results: Results which we have obtained are showing us, that patterns of drinking alcohol among women from the research sample did change over time. Prevalence of drinking alcohol was the highest before pregnancy. During that time there...
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Treatment of tobacco dependence: knowledge and interest among smokers in Kolín area
Vodičková, Ludmila ; Králíková, Eva (advisor) ; Pánková, Alexandra (referee)
According to a research report made by National Institute of Health in 2012, in the Czech Republic can be over 24 % of the population classified as regular smokers who smokes more than one cigarette a day. There is no doubt that smoking ranks among current societal problems that threatens the health of about two and a half million people in the Czech Republic.For this reason, in this thesis I concerned myself with subject of treatment of tobacco dependence and I'm trying to determine the level of knowledge about treatment options among the smokers in the Kolín area and if they are interested in treatment. This thesis is divided in two parts - theoretical and practical. Goal of the theoretical part is to describe methods of diagnosis of tobacco addiction and treatment options. The first chapter of this thesis describes and explains what is nicotine, tobacco with its brief history and the concept of passive smoking. The second chapter deals with what is addiction to tobacco, describes the principle and neurobiology. The third chapter deals with the different ways to diagnose tobacco dependence and the last, the fourth chapter of the theoretical part provides information about treatment options. Practical work aimed to investigate awareness about treatment options for tobacco dependence among smokers...
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Molecular genetic analysis of the causes of selected hereditary forms of colorectal polyposis
Florianová, Martina ; Kohoutová, Milada (advisor) ; Křepelová, Anna (referee) ; Vodičková, Ludmila (referee)
Colorectal cancer (CRC) is one of the most common cancers worldwide. Hereditary colorectal adenomatous polyposis syndromes are a predisposition to colorectal carcinoma development. The most common analyzed syndromes are familial adenomatous polyposis (FAP) that results from germline mutations in the APC gene and MUTYH - associated polyposis (MAP) caused by germline mutations in the MUTYH gene. The aim of this study was to clarify genetics causes of colorectal polyposis in a set of probands without the germline mutation in the APC gene. Within studyʼs scope the presence of large deletion in APC gene was tested, there was looked for germline mutations in MUTYH gene, alternatively germline mutations in MSH6 gene by probands with monoallelic MUTYH mutation, item there was tested an effect of detected APC variants on gene expression. Screening for large deletions was performed by multiplex ligation dependent probe amplification (MLPA). A set of 120 APC-negative probands was examined for the presence of germline MUTYH mutations by denaturing high performance liquid chromatography (dHPLC). Subsequently a set of 145 APC-negative probands was screened only for germline MUTYH mutation in exon 7 and 13 by high resolution melting (HRM) analysis. Analysis of the effect on expression was tested by ten APC...
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