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Ichthyosis - A disease of the whole family
Jílková, Karolína ; Pinková, Blanka (advisor) ; Přáda, Jan (referee)
Bachelor thesis entitled Ichthyosis - A disease of the whole family deals with the disease Ichthyosis, its types, heredity and quality of life of patients. The work is divided into a theoretical part and a practical part. In the theoretical part I present an individual types of diseases, possibilities of diagnostics, therapy and the influence on the labour of a mother of a child with this disease. In the practical part, I examine the period of the first signs of childhood disease, the impact on childbirth, the attitude of parents of a child with ichthyosis to plan another child and the degree of a daily burden for patients and their caregivers. I carry out the research in the form of a questionnaire sent out among the families whose members suffer from the given disease and a supplementary questionnaire, which was presented to the mothers of healthy children. The work is focused on greater public awareness of Ichthyosis, the necessary care of the skin of the affected and the non-infectiousness of this disease. The most popular products for relieving clinical symptoms are introduced in the attachment No. 3. keywords: ichthyosis, genetics, quality of the life, care, life, heredity, diagnostics, therapy, labour, prenatal
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Thyroid tumors and their molecular genetic causes.
Šmídová, Barbora ; Dvořáková, Šárka (advisor) ; Soták, Matúš (referee)
The aim of this work is to summarize actual literature overview and to collect the up- to-date knowledge on genetic causes of the development of thyroid carcinomas. Thyroid carcinomas represent the most often endocrine malignancy and its incidence is still growing. This work describes all types of thyroid carcinomas derived from different cell types and are distinguished also according to the degree of differentiation. The main genetic changes in the tumor tissues of the medullary, papillary, follicular and anaplastic thyroid carcinoma are described. Thyroid carcinomas occur mostly in sporadic form, rarely as a familial disease. The causes of familial forms of thyroid carcinomas are also summarized and the main mutations in the germ-line DNA are identified. Key words: carcinoma, genetics, mutation, thyroid
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Conception of Science in the Selected Works by Simon Mawer
Miháliková, Veronika ; Topolovská, Tereza (advisor) ; Chalupský, Petr (referee)
The aim of this thesis is to explore Simon Mawer's approach to science and to compare the roles of science in his novels Mendel's Dwarf and The Girl Who Fell from the Sky. The description of author's life and its influence on his work with emphasis on the scientific aspects is provided and his opinion on the relationship between science and literature given. The difference between fiction with aspects of science and science fiction is explained and other authors who deal with science in their fiction are exemplified. As Mendel's Dwarf employs genetics and eugenics and The Girl Who Fell from the Sky nuclear physics, the brief development of these scientific fields is described.
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Laboratory diagnosis of pheochromocytoma
Chlupáčová, Tereza ; Bílek, Radovan (advisor) ; Švandová, Ivana (referee)
1 Phaeochromocytomas are tumors predominantly rare to chromaffin tissue in adrenal glands' medulla. Tumors in the extra-adrenal chromaffin tissue are called paragangliomas. Phaeochromocytomas cause secretion of high amounts of catecholamines, which can lead to fatal consequences if not medically treated. The aim of this thesis is to summarize the so far known facts about this severe disease in a written review. The first part of the study focuses on issues of phaeochromocytoma research and lists general information about these tumors and their clinical manifestations. The importance of genetic influence in connection with treatment strategies for patients with phaeochromocytoma is also discussed. The second part of the thesis summarizes procedures and methods used in laboratory diagnostics of phaeochromocytomas. The conclusion briefly describes the possibilities of tumor localization using imaging technologies and procedures of subsequent treatment of patients with phaeochromocytoma.
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Heredity of cardiovascular disease
Košatová, Andrea ; Ehler, Edvard (advisor) ; Pavlasová, Lenka (referee)
The main purpose of this text is to conclude the known facts about the influence of heredity over cardiovascular diseases. It is targeted at the general public, but also at those who take a deeper interest in medicine, civilization diseases and their causes. The diseases of heart and vessels are the most common cause of sickness and death in the countries of so-called Western civilization. Heredity is one of the major risk factors that affect the probability of such diseases' outbreak. The sources of information for this work were studies by our experts which deal with these diseases, and also special medical doctors' magazines. Some international sources are also essential, most notably the OMIM database run by U.S. National Center for Biotechnology Information, which serves as a catalogue of human genes and genetic diseases. Key words: cardiovascular, atherosclerosis, hypertension, lipidemia, thrombophilia, cardiac muscle
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Obesity of young school - age children
Svobodová, Petra ; Bunc, Václav (advisor) ; Dvořák, Martin (referee)
The thesis deals with problematic of obesity of school-aged children, focuses on different points of view, tries to find out reasons leading to obesity and effects of obesity on the health and psyche of children. Obesity is defined as excess adipose tissue above optimal limits. Obesity mechanically burdens static strain and musculoskeletal system and makes worst physiological functions. The thesis is composed of a theoretical part and a practical part. The theoretical part deals with causes of obesity, with prevention, effects of overweight and compares opinions of Czech and world authors. The practical part is based on measuring weight and height of sample of children from schools in Pribram. The results of questionnaires filled by children attending 4th grade of primary schools are examined. Children answered questions related to their eating habits and their leisure time. Due to the fact that the number of obese children is increasing continually, it is necessary to be more focused on prevention and helping overweight children and their families. Key words Obesity, overweight, genetics, eating habits, leisure activities, metabolism, prevention, effects.
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Genetic causes of medullary thyroid carcinoma and Hirschsprung's disease
Václavíková, Eliška ; Bendlová, Běla (advisor) ; Dvořáková, Lenka (referee) ; Stárka, Luboslav (referee)
Genetic causes of medullary thyroid carcinoma and Hirschsprung's disease Abstract Medullary thyroid carcinoma (MTC) and Hirschsprung's disease (HSCR) are classified as simple neurocristopathies, i.e. diseases linked to neural crest-derived cells. MTC is derived from parafollicular cells of the thyroid and HSCR is characterized by absence of enteric ganglia in the gastrointestinal tract. The RET proto-oncogene is only expressed in neural crest-derived cells, including parafollicular cells and enteric neurons. The RET encodes a transmembrane tyrosinekinase receptor that plays an important role during proliferation, differentiation and cell survival, and activates many signaling pathways. If the strictly regulated activation fails, e.g. due to mutations in the specific gene locations, the RET becomes a highly effective oncogene. Activating germline mutations in the RET proto- oncogene lead to hereditary forms of MTC, whereas sporadic forms of MTC are caused by somatic mutations in the tumor tissue. On the contrary, inactivating mutations induce migration failure of ganglion cell precursors during the development of enteric nervous system and result in the development of HSCR. In rare cases, the coexistence of both diseases is caused by mutations with a dual gain-of-function and loss-of-function character....
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Genetic and Etnic impact on endurance performance focussed on track and field
Duchoňová, Andrea ; Hráský, Pavel (advisor) ; Semerád, Miroslav (referee)
Titel: Genetic and Etnic impact on endurance performance, focused on track and field- running disciplines. Goals: Research and analysis of domestic and foreign sources, in context with the determining factors of endurance performance, extended by statistical processing of results from track and field competitions. Method: Research Results: Comparaison of World Championship results and all time records in track and field disciplines according to nationalities. Key words: Genetic factors, Gender, Ethnics, endurance performance, environment
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