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Birth
Piskova, Olena ; Klímová, Barbora (referee) ; Gabriel, Michal (advisor)
The thesis is a continuation of my subject, "Why?", Also includes the theme of man and the environment. I started to be interested in the controversial topic of genetically modified organisms, genetic engineering. I found a personal story in it. Now it is difficult to comment on the extent to which these researches are important, but we shouldn’t stop there.
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Entity
Jindra, Jakub ; Turek, Filip (referee) ; Hájek, Václav (advisor)
Informace může vytvářet určité entropické krajiny. Entropická krajina je složená ze zdrojů informace. Zdroj může být informačně přínosný nebo úplně zbytečný. Dobrý zdroj vytváří nízkou entropii, vysoký náboj, a špatný zdroj entropii vysokou s nízkým informačním nábojem. Touto optikou pak můžeme vidět fiktivní krajinu, která se kolem nás nalézá. Entita je její vizualizací, vytváří útesy, tam kde byly roviny, hory zkoncentrované informace a měsíční údolí s nulovou hodnotou.
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Molecular genetic analysis of thyroid carcinomas in pediatric and adolescent patients
Bulanová, Barbora ; Kuklíková, Vlasta (advisor) ; Ludvíková, Marie (referee) ; Vícha, Aleš (referee)
Thyroid nodules are rare in pediatric and adolescent patients, but they are at greater risk of malignancy than adult patients. Thyroid carcinomas are the most common endocrine malignancy and their incidence is increasing. Although there are several types of thyroid carcinoma, 90% of cases in pediatric and adolescent patients are papillary thyroid carcinomas (PTCs). The aim of this study was to analyze a large cohort of PTCs from pediatric and adolescent patients, determine their genetic cause, and correlate the findings with clinical pathological data. Another aim was to characterize the most frequent findings and compare them with a cohort of adult patients with thyroid carcinoma positive for the same mutation. The final objective was to optimize a suitable methodology for detecting the most common findings in pediatric and adolescent patients for routine use. Thyroid tumor tissue samples were examined using molecular genetic methods, mostly using next-generation sequencing and real-time PCR analysis. We found that fusion genes were the most common cause of PTC in pediatric and adolescent patients, detected in 56% of patients. In total, 20 different types of fusion genes were identified, some of which have not been previously described in the literature. The fusion genes included the oncogenes...
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Analysis of selected gene variants in athletes - runners at 400 m
Šplíchalová, Dominika ; Petr, Miroslav (advisor) ; Šteffl, Michal (referee)
Title: Analysis of selected gene variants in athletes - runners at 400 m Objectives: This work aims to find out what the genetic profile of athletes - runners at 400 meters, who are working in lactate mode, looks like. Methods: A cross-sectional investigation involved 203 East European Caucasian males and was conducted collaboratively at the FTVS UK and Józef Piłsudski University of Physical Education in Warsaw (AWF Warsaw). The athletes, after a brief warm- up, participated in a single 30-second Wingate test. DNA samples were collected non-invasively through saliva swabs. Lactate levels were measured using an invasive approach. Results: In the polymorphisms rs4646994 gene ACE was found to have a significant difference in genotypic (p = 0.001, x2 = 14.90) and allelic (p = 0.004, x2 = 8.52) frequencies between the overall athlete group and the controls. A notable difference in the ACE gene showed the comparison of the genotypes (p = 0.001, x2 = 13.66) and between the alleles (p = 0.003, x2 = 8.89) between the control group and elite athletes. The last statistically significant difference was observed among the genotypes (p = 0.03, x2 = 6.79) between the sub-elite athletes and the control group. When assessing the genotypic and allelic frequencies for the polymorphisms rs1815739 in the ACTN3 gene, we...
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Strategies and results in the development of insulin derivatives for the treatment of diabetes
Pokorný, Štěpán ; Jiráček, Jiří (advisor) ; Hlouchová, Klára (referee)
The aim of this bachelor's thesis is to present insulin analogs and to analyse the direction of development of these organic compounds. The text contains basic information on this subject (e.g. the history of Diabetes Mellitus, the first treatment, the discovery of insulin (1921) and the experiments that preceded this discovery...). The thesis also explains the basic differences between type 1 and type 2 Diabetes Mellitus and the resulting differences in treatment. It mainly summarizes, the specific types of analogs, their chemical composition and the nature of their action. The main contribution of this work lies in the analysis of insulin analogs and the overview of the course in which the development of these analogues is proceeding or what innovations we can expect in diabetes therapy in the upcoming years. The thesis draws primarily from peer-reviewed scientific papers, articles and books (older as well as more recent ones) and from the expertise of the IOCB laboratory. All sources are well cited at the end of the work.
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Maternal effect in selected rodent species: positive and negative effect on offspring fitness
Malá, Jana ; Landová, Eva (advisor) ; Stopková, Romana (referee)
This work describes the most studied mechanisms which could be classified as maternal effects. Here I focus on the effects of body weight, health status, intestinal microflora and age of the mother in model rodent organisms. I also present factors such as the position of the young in the uterus, population density, stress and especially maternal care, which accompanies this entire work. Each of these mechanisms can positively or negatively influence offspring fitness, depending on specific environmental conditions. Maternal behaviour is presented here in the form of research, which documents both epigenetic and genetic influences acting on its final form. Maternal care as an element of maternal behaviour shows a different measure between individuals, indicated by the frequency of licking and cleaning offsprings. By evaluation of maternal care, we can find in laboratory populations two stable phenotypes of individuals with different behavioural manifestations in terms of sexual behaviour, stress reaction, aggression or cognitive abilities. The discussion critically evaluates whether maternal care really affects reproductive success and whether it can therefore be considered an adaptive mechanism. According to the available information, low maternal care appears to be a more beneficial strategy in...
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Teaching Human Genetics and English Using CLIL Method at Lower Secondary Level
ZIKOVÁ, Sylvie
The thesis deals with teaching genetics and the English language (CLIL method). The main aim was to design four learning activities on the topic of human genetics. The given activities were then tested in practice. In the literature part, the thesis focuses on the CLIL method, its definition, and the topic of human genetics. In the second part, the thesis focuses on the validation of the learning activities with 8th grade students during three lessons. The results showed that most of the pupils would repeat the CLIL method teaching in another subject and that their knowledge of the topic of human genetics improved significantly after the teaching.
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Multiple sclerosis: correlation of gene expression and response to immunomodulatory therapy
Kleinová, Pavlína ; Kubala Havrdová, Eva (advisor) ; Taláb, Radomír (referee) ; Musil, Zdeněk (referee)
KLEINOVÁ, Pavlína. Roztroušená skleróza mozkomíšní: korelace genové exprese a odpovědi na imunomodulační léčbu [Multiple sclerosis: correlation of gene expression and response to immunomodulatory therapy]. Praha, 2023. 107 s., 3 přílohy. Disertační práce. 1. lékařská fakulta Univerzity Karlovy v Praze. Vedoucí práce Eva Kubala Havrdová. Abstract Multiple sclerosis is a chronic autoimmune disease of the central nervous system with a genetic component, modifiable with immunomodulatory therapy. It is assumed that genetic factors influence the course of the disease and the therapeutic response. The thesis presents the results of two studies investigating the genetic background of multiple sclerosis. In the first study, the influence of the (GT)n polymorphism of the promoter of the HMOX1 gene for heme oxygenase 1 affecting its expression was investigated in people with multiple sclerosis. No effect of this polymorphism on the course of the disease was observed. We confirmed the effect of immunomodulatory therapy on delaying disease progression. The second study, called the Genotype/Phenotype Project, is a multicentre international genome-wide association study aimed at detecting single nucleotide polymorphisms associated with severity of multiple sclerosis. It has been shown that common genetic variants with...
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