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Study of single nucleotide polymorphisms in candidate genes for Crohn's disease
Dušátková, Petra
Mgr. Petra Dušátková, Studium jednonukleotidových polymorfizmů v kandidátních genech pro Crohnovu chorobu Abstract Crohn's disease (CD) is ranked among inflammatory bowel diseases. The etiology of the disease is not completely understood yet. However, it is assumed that genetic predispositions may play important role in the etiology of CD. This work is a part of a project studying causality of single nucleotide polymorhisms within candidate genes for CD in the Czech population. We tested in total 333 patients with CD and 499 healthy subjects for SNPs: c.3020insC, p.Gly908Arg, p.Arg702Trp within the gene CARD15, g.-308G>A within the gene TNFA, p.Arg381Gln within the gene IL23R a p.Ala197Thr within the gene ATG16L1. For determination of the genotypes we used alellic discrimination in TaqMan sonds format. Variants c.3020insC, p.908Arg within the gene CARD15 were significantly associated with CD (OR = 4,4; 95%CI 3,0 - 6,4, OR = 2,7; 95%CI 1,4 - 5,0, respectively). SNP p.702Trp was associated with CD after adjustation for other two polymorphisms within the gene CARD15 (OR = 1,7; 95%CI 1,0 - 2,7). We found the protective effect of the p.381Gln in the gene IL23R (OR = 0,6; 95%CI 0,3 - 1,0). Variant p.197Ala within the gene ATG16L1 increased the risk of CD (OR = 1,3; 95%CI 1,0 - 1,9). We did not detect association...
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Ultrasonographic evaluation of cardiovascular abnormalities in patients with Fabry disease
Paleček, Tomáš ; Bultas, Jan (advisor) ; Pudil, Radek (referee) ; Kittnar, Otomar (referee)
Fabry disease is an X-linked glycosphingolipid storage disorder caused by deficient activity of the lysosomal enzyme α-galactosidase A. This leads to progressive intracellular accumulation of neutral glycosphingolipids, mainly globotriaosylceramide. Besides various extracardiac disease-related abnormalities, cardiovascular involvement represents a typical manifestation of Fabry disease. The primary underlying mechanism relies on pathological substrate accumulation in cardiomyocytes, conduction system cells, valvular fibroblasts, endothelial cells and vascular smooth muscle cells. The development of cardiac and vascular hypertrophy represents a characteristic cardiovascular feature of Fabry disease. The aim of our studies was to describe in detail cardiovascular abnormalities in patients with Fabry disease using ultrasonography, which currently represents basic noninvasive imaging modality in cardiology. We focused on structural and functional abnormalities of ventricles, valvular apparatus and their relationship to vascular involvement expressed on common carotid arteries. We also compared the diagnostic accuracy of the two novel echocardiographic methods used for the left ventricular diastolic function assessment. The possible existence of circulating proliferative factor, which might be associated with...
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Molecular factors of artherogenesis in chronic kidney disease with experimental model of chronic inhibition of Nitric Oxide Synthesis and its Effect of HMG-CoA reductase inhibitoin
Lecian, Dalibor ; Matouš, Bohuslav (advisor) ; Tesař, Vladimír (referee) ; Zadražil, Josef (referee)
The experimental part of the thesis covered the markers involved in nitric oxide deficiency model in rats. The analogue of arginine N-nitro- L -arginine-methyl ester ( L -NAME) was used. L -NAME administration resulted in sustained elevation of BP, decreased GFR, and in higher albuminuria compared to control animals. The administration of hypolipidemic drug - atorvastatin to Wistar rats was studied. The statin used caused lower albuminuria and prevented decreases in GFR in L -NAME rats without having an impact on hypertension. CAV1 protein expression was similar in all groups of rats. In contrast, VEGF expression and RhoA activity was increased in L -NAME-treated animals, and normalized with coadministration of atorvastatin. Clinical part of the thesis focused on the analysis of markers of oxidative stress in obese and non-obese patients with CKD and after kidney transplantation. The patients with CKD had elevated serum concentrations of AGEs, sRAGE and ADMA with the maximal concentrations of AGEs in the patients on hemodialysis. The successful kidney transplantation decreases the AGEs, sRAGE and ADMA concentrations but not to normal value according to general population. Patients with obesity exhibited lower concentrations of sRAGE in CKD as a protective factor for cardiovascular disease. Concentrations of...
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The therapy of Alzheimer disease
Veselá, Michaela ; Melicharová, Ludmila (advisor) ; Vopršalová, Marie (referee)
Charles University in Prague Faculty of Pharmacy in Hradec Králové Department of Pharmacology & Toxikology Student : Michaela Veselá Supervisit : PharmDr. Ludmila Melicharová Title of diploma thesis : The therapy of Alzheimer's disease Alzheimer's disease is becoming more pressing problem of today's population. It is very serious progressive-neurodegenerative disorder mainly manifested by memory loss, cognitive dysfunction and personality changes. This thesis provides topical summary of the most important aspects of treatment of Alzheimer's disease. There are introduced basic characteristics of Alzheimer's disease, its possible causes and brief summary of currently used and new considered therapeutic approaches.
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Problems of renal tumours in patiens with terminal stadium of renal failure
Ürge, Tomáš ; Hora, Milan (advisor) ; Novák, Jaroslav (referee) ; Zachoval, Roman (referee) ; Morávek, Petr (referee)
Objective: Risk of renal carcinoma is minimal 10 x higher in group of patients in terminal stadium of renal failure (end stage kidney disease - ESKD). We have only some information about chromosomal changes in renal tubules, from which rise renal carcinoma, and about pathogenesis of renal carcinoma, which seems to be different from carcinoma in common population. Aim of the study: In clinical part we valorize characteristic signs of renal carcinoma in ESKD by using of statistic methods. In experimental part we can explain pathogenesis of this carcinoma by analysis of selective chromosomal aberations. Material, methods: In 2000 - 2007 were 184 patients with ESKD in care of transplant centre and nephrologic ambulation of Faculty hospital Plze_. In 15 patients we diagnose renal carcinoma. In this group we valorize: age, gender, causation of renal failure and dialysis duration. Age, gender and type of renal carcinoma we confront with carcinoma in common population. In experimental part we valorize numerical aberations in chromosome 7, 17 and Y of tubular epithelium using fluorescent hybridization in situ (FISH). Results: We have 15 patients in average age 55.7 ± 11.5 years, long of during dialyzation was 78 ± 54 months. We do not find dependence between causation of renal failure and genesis of renal...
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Comparison of nursing care about patients with peritoneal dialysis and hemodialysis
JANOUŠKOVÁ, Jaroslava
The number of patients with kidney disease is increasing worldwide. Such diseases include chronic kidney failure that needs dialysis treatment. Problems associated with providing nursing care to patients in a dialysis program are extensive and specific. Starting the treatment with a peritoneal dialysis or a haemodialysis causes a great psychological burden to patients. It noticeably affects not only patients' lives but also lives of their family and friends. Patients in the regular dialysis program are facing many health and social problems. Mutual trust between a nurse and a patient on dialysis to a certain extent influences the course of the treatment. Balanced and satisfied patient can live a better and more valuable life. The goals of the thesis: 1) To determine whether a comparably high quality nursing care is provided to patients with haemodialysis and peritoneal dialysis 2) To determine whether the approach to the provision of nursing care to the patients with haemodialysis and peritoneal dialysis is comparable. 3) To determine whether comparable forms of education and communication are used in providing nursing care for the patients with haemodialysis and peritoneal dialysis. Research questions: 1) Is the nursing care provided to the patients with haemodialysis and peritoneal dialysis of comparable quality? 2) A the approach to the provision of nursing care for patients with haemodialysis and peritoneal dialysis comparable? 3) Are comparable forms of education and communication used in providing nursing care for the patients with haemodialysis and peritoneal dialysis? Methods used: In the empirical part of the thesis a qualitative research was used to process data. The research was conducted through a non-standardized interview. Three sets of questions were created for the three groups of respondents, i.e. the respondents with peritoneal dialysis, respondents with haemodialysis and nurses who take care of patients with haemodialysis and peritoneal dialysis. The criterion for the selection of respondents was their willingness to cooperate. The nature and purpose of the research was explained to the addressed respondents. From the interviews with patients it was determined how they perceive the provided nursing care, the nurses' approach, and the way of interaction during haemodialysis and peritoneal dialysis. Interviews with nurses were focused on comparability and demands of nursing care for patients with haemodialysis and peritoneal dialysis, as well as on the used forms of communication and the way how to approach these patients. Results: The results of the research show that the care provided to patients with peritoneal dialysis as well as with haemodialysis is perceived by the responding patients with peritoneal dialysis, with haemodialysis and nurses as of the same quality. Peritoneal dialysis and haemodialysis each have their specificities and a different way of execution. Both are provided in differing environments. Peritoneal dialysis is done by the patient himself in their own social environment. During haemodialysis, nursing care is provided to the patient by nurses in a haemodialysis centre. As comparable is perceived by all respondents the nurses' approach to the patients, i.e. to each patient individually. In conclusion, the results imply that nurses during the contact with the patients with peritoneal dialysis and with haemodialysis use comparable forms of communication and education. Conclusion: At the present time there is an attempt to perform dialysis treatment to benefit the patient as much as possible. Peritoneal dialysis and haemodialysis are considered as equivalent substitute for renal function. They differ only in the principle and the method of executing. Nursing care provided to patients with peritoneal dialysis and with haemodialysis is perceived by the respondents as of comparable quality. The results of this thesis can be the basis for further research.
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Glucose-metabolism patology during pregnancy
Janštová, Alena ; Andělová, Kateřina (advisor)
Diabetes mellitus type 2 is a disease occurring mostly over the age of 40 years. In recent years, however, increasingly more often in younger populations , often even adolescents and children. The team is also related to the increasing prevalence of pregnant women diagnosed with pregestačným type 2 diabetes . Material fact is worsening of pregnancies among these women. The incidence of congenital malformations is 2 - 3 times higher than the normal population . prevalence of sudden intrauterine death is approximately four times higher . Perinatal mortality is comparable in both types of diabetes (2.6% of type 1 diabetes vs.3 , 7 % for type 2 diabetes ) but causes leading to fetal death are different. In Type 1 diabetes is the leading cause of perinatal mortality severe malformation of the fetus and complications related to prematurity . In type 2 diabetes dominated by sudden intrauterine fetal death . From these facts shows how important it is to you earliest detection of the disease , the importance of preconception care with emphasis on planning Parenting and provide adequate prenatal care.
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The Role of Nurse in the Prevention of Disease of Civilisation
PAVLOVÁ, Martina
The current state Prevention is a complex care of a patient when we are trying to prevent from the occurrence or development of a disease, or when we want to prevent from its consequences and mitigate them. Recommendations for prevention set by a doctor must be on a scientific basis, and they must be a part of all branches of medicine. Their effectiveness depends on the cooperation between patients and medical staff. The basic and most efficient method of prevention is the health promotion and health education, which is closely associated with it. The term health promotion involves a set of activities and precautions for the purpose of making health better and sustaining it. Diseases of civilisation (hereinafter "DoC") are groups of diseases which are distinguished by their association to our lifestyles. Human body is more and more threatened from unfavourable influences of external environment, such as the quality of atmosphere, work environment and environment itself, the lack of physical movement, unhealthy diet, smoking, and alcohol consumption. The list of diseases of civilisation varies and changes together with our society and the development of our lifestyles. Among the most common or frequent diseases of current time are cardiovascular diseases, which involve atherosclerosis, hypertension, myocardial infarction, stroke, coronary artery disease and obesity. Furthermore, between civilization diseases include diabetes mellitus type 2 or cancer, etc. The goal of the thesis There are two goals set for this paper. The first goal was to find out what the role of a nurse in the prevention of diseases of civilisation was. The second goal was to find out what the above mentioned role of a nurse was from the point of view of patients. Methodology For the purpose of the research part of this thesis, qualitative research using semistructured interviews was carried out. Respondents were divided into two groups; the first one consisted of eight nurses working at internal medicine and neurological department of the hospital in České Budějovice and a nurse working in a private office of a general practitioner for adult patients. The second group consisted of eight patients of the above mentioned health facilities. Results According to our findings, nurses and patients have different oppinions on the role of a nurse. Nurses in disease prevention see themselves as an equivalent to a doctor when undertaking this practice and giving guidance. The patient speaks only to the nurse who emphasized what they were told by the doctor and reiterated the main points. They make available to them leaflets and brochures or Internet resources. In contrast, most patients see a nurse as a more important source of information than the doctor. Patients have the feeling that the doctor does not have enough time or does not want to be botherd with questions. Rather the patient turns to his nurse, which they sees as more appropriate and someone to whom they can confide in without bothering. Summary The goal of the thesis was to focus on prevention, DoC, and the role of a nurse in the prevention of such diseases, as well as to study this issue, look at it from the point of view of patients and nurses via the interviews carried out in this paper, and to analyse such information. Based on this analysis are published recommendations for nurses and patients.
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Lifestyle of patients with peripheral arterial disease before and after surgery
REZKOVÁ, Helena
Theoretical background: Peripheral arterial disease is a serious disease of Loir limb arteries which originates from atherosclerosis. The theoretical part deals with the lifestyle. There are mentioned basic risk factors of chronic forms. Further described are the pathophysiology changes generated on the basis of atherosclerosis and related causes for the origin of the disease. Subsequently there are explained methods of classification, developed clinical symptoms, diagnosis and therapy. This section also looks at the role of a nurse in the care of patients with peripheral arterial disease. Objectives: The aim of this work was to evaluate how patients with peripheral arterial disease changed their lifestyle after invasive vascular surgery. There were provided the following research questions: How do patients with peripheral arterial disease approach to the prevention of risk factors? What is in patients with peripheral arterial disease the main impuls for the possible change of their lifestyle? What influences surgery patient's attitude to risk factors for peripheral arterial disease? How crucial is a lifestyle change in patients after surgery for peripheral arterial disease? Methods: The theoretical part is processed using expert sources. The empirical part of the theses was processed using qualitative research. The chosen technique for data collection was semi-structured interviews with patients, with prepared open questions. The research was done in several phases - the first interview was conducted at the patient admission department (before surgery), followed by the next phase after three months, and 6 months after surgery. The interviews were recorded on a prepared form, then transcribed into electronic form and analyzed by open coding method. Results: The research showed that surgery can sometimes be triggered by changes in the patient's lifestyle. The first interviews in the preoperative period focused on how respondents felt, what was their lifestyle before surgery for atherosclerotic changes of the lower extremities. One of the questions was focused on patient knowledge about risk factors for the development of PAD and possible prevention. The second phase of interviews took place 3 months after the surgery. It dealt with the question about the respndents´ lifestyle, the respondents in the postoperative period, whether there were any changes. Some positive changes occurred in eating and there were some changes in doing physical activity. The third stage was carried out six months after surgery, again in order to detect changes in lifestyle. Minor changes came in smoking habits, the issue of diet and physical aktivity. Questions were also focused on the psychological level. We found out who helped patients and what was most motivating in implementing changes. In the conclusion/summing up question the patients marked themselves ow they managed to make a change. Conclusion: The number of patients with peripheral arterial disease and other cardiovascular diseases is increasing. The basis is the start to modify risk factors, namely tobacco use,dietary habits, physical activity. The medical staff members participate on changes in patients´ lifestyle by appropriate education. The problem occurs when the patient despite the support of close people can not cope to carry a twist in their life. There should a medical staff member offer a professional help to deal with this important step. Practical use: The aim is to draw attention to the expansion of education about lifestyle changes for patients diagnosed with PAD also in the postoperative period. Patients who are released to home care should receive enough information that would convince them to change their attitude towards their health, and that surgery is only one of the ways to prevent further attacks and complications. Results can improve communication with patients and focus on increasing their awareness and possibly offer assistance.
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