National Repository of Grey Literature 161 records found  1 - 10nextend  jump to record: Search took 0.01 seconds. 
Genetic diseases of the liver
Šepsová, Marika ; Doleželová, Eva (advisor) ; Tripská, Katarína (referee)
Author: Marika Šepsová Title: Genetic diseases of the liver Form: Bachelor Thesis University: Charles University, Faculty of Pharmacy in Hradec Králové Degree: Medical Laboratory Technician Liver function may be affected by various factors including genetic diseases. The aim of this bachelor thesis is to collect and summarize current information about genetic diseases of the liver. Diseases with the highest incidence in the population are Dubin-Johnson syndrome, Rotor syndrome, Crigler-Najjar syndrome and Gilbert's syndrome. They are known as inherited hyperbilirubinemia characterized by an impairment in bilirubin metabolism. These genetic diseases are very rare with exception of Gilbert's syndrome. However, despite low prevalence and incidence it is necessary not to prolong their diagnosis. Most of them do not have any complications and do not require any treatment. The exception is Crigler-Najjar's syndrome, as untreated can have fatal consequences. Wilson's disease and hereditary hemochromatosis are inherited disorders of metal metabolism. Wilson's disease is a rare disease caused by an impairment in copper metabolism. Inherited hemochromatosis causes excessive iron deposition in the liver and other organs. Alpha-1 antitrypsin deficiency is characterized by impaired alpha-1 antitrypsin protein...
Monogenic causes of obesity
Toman, Izabela ; Včelák, Josef (advisor) ; Vaňková, Markéta (referee)
In recent years the prevalence of obesity has significantly increased, pursued by multiplication of patients with type 2 diabetes, cardiological problems and premature death. Between the most dangerous forms of obesity belongs its monogenic type as it is a disease caused by single causal mutation with typical phenotype of severe obesity and hyperphagia. The aspiration of this thesis is to summarise the most important genes, mutation of which may cause monogenic type of obesity. The first chapters outline general genetic causes of obesity and importance of Leptin-melanocortin pathway in terms of its role in energy homeostasis. Subsequent sections identify genes involved in monogenic obesity, e.g. MC4R, LEP, LEPR, SIM1 and BDNF. Finally, the thesis summarizes possible new treatments, including new drug "Setmelanotide". Key words: Genetics, Obesity, Monogenic obesity, Leptin-Melanocortin pathway, MC4R, Setmelanotide
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.

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