National Repository of Grey Literature 159 records found  1 - 10nextend  jump to record: Search took 0.00 seconds. 
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.
Primary and secondary prevention of birth defects and their social impact
POUZAROVÁ, Klára
Bachelor thesis on topic "Primary and secondary prevention of developmental defects and their social impact" deal with prevention before conception and in prenatal period. It also goes in for various types of screenings which are used for detection of congential developmental defects. This bachelor thesis also discuss the social impact on inclusion of people with congential developmental defects and possibility of employment of young adults. Bachelor thesis is divided into two parts theoretical and practical one. Theoretical part is focused on origin of developmental defects, genetics, developmental defects themselves and primary and secondary prevention of them. Goal of practical part is to found out the frequency of developmental defects of children of the Czech republic, also finding out current forms of primary and secondary prevention and the social impact of developmental defects. Another goal of this thesis is to found out the quality of life of families, children and young adults with developmental defects and the last one is to determine the possibility of employment of people with developmental defect. Research of life quality (questionnaire PedsQL) shows that the best quality of life in terms of health have people with orofacil cleft. From interviews with those people came out that the most crutial part was after their birth, when they had to visit specialized clinics in order to undergo the surgery of cleft. Right behind them, according to results of HRQOL, are girls with Down syndrome, who are capable of socialization with others, but from statements of their mothers came out, they will never be able of independent life because of associated mental retardation. Next place is taken by informant with phocomelia and the worst merit HRQOL came out by informants with cleft spine. It is necessary to take into consideration that everyone of them have a different type of cleft spine. One of them is fully dependant on care of his mother, other young adult girl suffers from health issues, but can take care of herself. The last goal of thesis is to find out about their possibilities to join the work process. Respondents were rather young and taking their age into consideration, we can't tell how they will or won't be able to find and keep a job. Research shows us that physical and mental condition play a big role in it. In case of associated mental retardation mothers of girls decided their daughters won't ever be able to go to work as healthy people.
Current issues in working with genetic resources of plants and evaluation of the National program results: Conference proceedings
Papoušková, Ludmila
Proceedings of the conference on genetic resources of plants. Papers were presented on the topic of history and importance of the field, current research results and their use.
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Studium vlivu markeru CGIL4 na obsah somatických buněk v mléce
MOJŽÍŠKOVÁ, Nikola
The aim of the study was to analyze the occurrence of individual genotypes in the CGIL4 locus in a given cattle population. The analysis was carried out in breeds of Holstein and Czech Pied Cattle. The relationship between the genotype in the given locus and the number of somatic cells in the milk was verified. An increased number of somatic cells is the main indicator of mastitis. The diploma thesis described the factors that provoked their origin. In the practical part, milk samples were taken in a selected cow population of both breeds. The DNA was isolated from the milk and samples for the CGIL4 locus were genotyped. Genetic and allelic frequencies were counted from genotyping results. Finally, the potential relationship between genotype in a given locus and the number of somatic cells in milk was evaluated statistically.
Dědičné choroby u plemene anglický bulteriér
NEZNÍKOVÁ, Kateřina
This bachelor thesis deals with hereditary diseases of English Bull terrier breed. It describes the most common diseases of this breed, for example hereditary nephritis or primary lens luxation. For each disease is explained how it is transfered to the 00next generations, clinical signs, diagnosis and therapy. In this thesis you will find explanatory terms related to inheritance and breeding. An important part of the bachelor thesis is also a survey of the health of the English bullterrier population in the Czech Republic.
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....
Commented translation: L'enfant qui n'entend pas (Dominique Seban-Lefebvre, Christine Toffin, Belin, Paris 2008, p. 103-127)
Zachová, Zuzana ; Belisová, Šárka (advisor) ; Duběda, Tomáš (referee)
This bachelor thesis is a czech annotated translation of a part of a french popular science publication L'enfant qui n'entend pas, written by two women who worked in the Necker Hospital in Paris - Dominique Seban-Lefebvre and Christine Toffin, The translated text is devoted firstly to the genetical tests which can show the reason of the deafness of the child and secondly to the cochlear implant, device that makes the hearing possible even for the children with severe hearing loss. The second part of this thesis is a theoratical one that describes the important translation difficulties, shows the methods that were used and mentions the effects that it had on the translation.

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