National Repository of Grey Literature 17 records found  1 - 10next  jump to record: Search took 0.01 seconds. 
Molekulární diagnostika deficience lipoproteinové lipásy (LPLD) jako výběr pacientů vhodných pro genovou terapii (AAV1-LPL S447X )
Křížová, Jana
Lipoprotein lipase deficiency is a malfunkction of a key enzyme for lipoprotein metabolism. Lipoprotein lipase deficiency can cause serious episodes of pancreatitis. The deficiency is caused by pathology in the LPL gene. There are many variants in the LPL gene and quite a lot of them are pathogenic.The first gene therapy in Europe was licensed for the treatment of lipoprotein lipase deficienciency using a gain-of-function variant of the LPL gene. A pattern of examination was established to including MLPA, Light SNiP, quantitative real time PCR and sequencing in order to find pacients for the treatment. Three pacients suitable for the gene therapy Alipogene tiparvovec (AAV1-LPL S447X) were found amongst a group of patients with history of pancreatitis.
Eating habits of patients with metabolic syndrome
NOVÁČKOVÁ, Anna
Metabolic syndrome (syndrome X, Reaven's syndrome) is frequently occurring disease in Czech Republic. The diagnosis often detected only separated parts of metabolic syndrome which are usually not connected with complex of MS. Medical conditions co-occurred within this syndrome are following: elevated fasting plasma glucose (insulinoresistance), abdominal (central) obesity (women waistline > 88 cm, men waistline > 102 cm), elevated blood pressure, high serum triglycerides (> 1,7 mmol/l), and low high-density cholesterol (HDL) levels (women 1,25 mmol/l, men 1,0 mmol/l). The incidence of MS can be divided into the prevalence of MS itself (this correspond with 30%) and the prevalence of each individual part of MS which correspond with 80% population. The most frequently reasons of MS are so called environmental impacts as e.g. central obesity, insulinoresustance syndrome, fatty liver, systemic inflammation, intestinal alterations, hypertension, hypertriglyceridemia, foetal malnutrition, low basal energetic outcome, sleep apnoea syndrome, changes of gut flora, hyperglycaemia and cumulation of visceral fat. This bachelor´s work is concerned with eating habits, life style and other factors which could be reason of described metabolic syndrome. The aim of this study is evaluation of eating habits and life style of patients suffered from MS before syndrome outbreak, as well as participation of obesity in MS outbreak assessment. Two explorative questions were formulated on the basis of described goals: First research question: Did the MS patients follow principles of healthy eating before syndrome outbreak? Second research question: Does obesity have a significant effect on MS outbreak? Definition and characterization of MS in relation to diet is described in theoretical part of my work as well as explanation for reasons of MS outbreak, descriptions of each separated diseases of MS complex and their treatment. Metabolic syndrome in connection with obesity and its classification into each level is defined inthis part. Obesity treatment together with prevention and treatment of MS are suggested in terminal part of this section. In practical part of work, the results of own research are presented. This section is focused on: 5. evaluation of eating habits before MS outbreak; 6. obesity incidence in MS patients; 7. patient´s life style; 8. the presence of individual diseases participate in MS. Research part of my bachelor´s work is prepared with using of quantitative assessment, which was done by questionnaire investigation in southbohemian and westbohemian region. Research population consists of thirty gender-nonspecific and age various patients diagnosed as having MS. The research questions were focused on mapping of respondent´s eating habits, life style (smoking, movement activity, daily eating portions and breakfast regularity), previous and current illnesses as well as diseases of respondent´s relations. The aim of described investigation was evaluation of obesity, life style and diet participations in MS outbreak. The results did not prove observance of healthy eating principles in MS patients before and after syndrome outbreak, while most of respondents were overweight or obesity. It can be assumed that genetic predispositions play role in MS outbreak. Additionally, very interesting is detected occurrence of MS in many individuals younger then forty years old. The present work extended the knowledge about risk factors of MS outbreak together with eating habits, obesity and MS outbreak connections. When reasons of MS seem to be more clear, it is easier to establish new more effective prevention. On the basis of the results, it can be arranged diet suggestions useable as effective prevention of MS outbreak.

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