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Genetic, humoral and cellular factors of development of autoimmune diseases
Růžičková, Šárka ; Černá, Marie (advisor) ; Kalina, Tomáš (referee) ; Drda Morávková, Alena (referee)
Autoimmune diseases currently represent the most serious medical issues, mainly due to generally increasing number of patients with these diseases. Their pathogenesis is likely caused by hereditary factors, cellular and humoral interactions influenced by external environmental factors, whose knowledge is important both for diagnostics and therapy, and for theoretical immunology. The aim was to examine the correlation between genetic alterations and the production of autoantibodies, clinical manifestation of the disease; to identify joint autoantigens, further to demonstrate development of leukemic cells from originally autoreactive B cells, the role of B lymphocytes in the pathogenesis of the disease and finally to develop a method for detection of B cells recognizing a defined autoantigen. Several predisposing polymorphisms were revealed using genetic analysis however, they were not exclusively associated either to clinical forms of the disease or usable as prediction markers. In addition, the frequency of alleles IL-1RN * 2 and PD3.1 showed ethno- geographical differences and a critical role of size of sample cohorts in assessing of significance of particular polymorphism was demonstrated in GWA studies. The combination of examination of anti-CCP and IgM RF was found as the best and most...
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Importance of trombophilic mutations in clinical genetic.
Vavrušková, Klára ; Kuklík, Miloslav (advisor) ; Černá, Marie (referee)
Trombophilia means an increased disposition to creation of trombs. Health complication incurred as a consequence of hypercoagulation can be very serious. When a trombophilic mutation is found at a patient, it brings necassity of thrombosis - control in risk situations (e.g. pregnancy, operation) for the rest of the patient's life. There were filed 300 people (206 women and 94 men) with trombophilic mutations into my study of clinical signification of trombophilic mutations. These people were examinated in years 2008 - 2010. Most of positive medical findings - 266 people, were recorded in the area of MTHFR (C677T i A1298C) mutations. There were less findings in the field of FV Leiden and FII prothrombin mutations. Multipath trombophilic mutations were found at 99 patients. I accordance with foreign literature, our results advert to clinical consequences of trombophilic mutations like: repeated spontanious aborts, cerebrovascular akcident (CA), ischaemic heart disease (IHD), thrombosis, flebothrombosis, pulmonary embolism, varicose veins, aseptic necrosis of hip bone, arterial sclerosis and aortic stenosis. Mutations MTHFR C677T and MTHFR A1298C we found mainly at patients with CA, IM and IHD. Leiden mutation was most often found at patients with thrombosis, flebothrombosis and pulmonary embolism. We...
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Immunogenetic studies on autoimmune diabetes mellitus
Kološtová, Katarína ; Černá, Marie (advisor) ; Mateička, František (referee) ; Štechová, Kateřina (referee)
Immunogenetic studies on autoimmune diabetes. Aims of the study: The study has to characterize the genetic background of patients with different types of diabetes mellitus (T1D in children, T1D in adults, LADA, T2D, MODY). The relationship of the diabetes associated HLA-DRB1*04 and NFKB1 genes to the disease course was proved further in the functional studies of the mRNA gene expression. Patients were divided into the tested subgroups in relation to the HLA class II, NFKB1, and NFKBIA genotypes and disease type (T1DM in children, T1DM in adults, and LADA). Results and Conclusion: According to our findings we can conclude that the progression of the diabetes in T1D adults, T1D children and LADA is strongly influenced by different immunogenetic background modifying the ethiopathogenesis of diabetes in the above described groups. Our results offer new possibilities for the population risk testing and may be that far used in the future for better diagnostics of the diabetic's adults.
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Genetic predisposition to diabetic nephropathy
Romžová, Marianna ; Černá, Marie (advisor) ; Kalousová, Marta (referee) ; Komers, Radko (referee)
Diabetic nephropathy is major microvascular complication leading to end stage renal silure and CVD associated death in diabetic patients, thus accounts for increased mortality and morbidity in these patients. Clinical definition of DN is presence of proteinuria over 0.5 g per 24h. It occurs in 15 - 30 % of type 1 diabetic patients after 20 years of diabetes duration, whereas prevalence in type 2 diabetes is more variable, ranging form 5 to 40 %. The fact that only subset of diabetic patients eventually develop DN despite long-term severe chronic hyperglycemia, together with the evidence of familial clustering of DN and various ethnic/racial prevalence of DN indicie hereditary predisposition to DN, independent form predisposition to diabetes mellitus. The conception of combination of several "bad" genes and environmental factors, such are glycemic control, blood pressure control or hypertension, was established as model of DN inheritance. To reveal genetic markers, implicated in renal diabetic complications, two main strategies have been used in DN research - linkage analysis and population based association studies. Present work shows new results of the investigation on DN predisposition markers. Several polymorphisms in the genes encoding transcription factor NFB and its inhibitor IB, transcription factor...
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The Influence of Autism on the Siblings of Children with Autism
Schöffelová, Miroslava ; Strnadová, Iva (advisor) ; Černá, Marie (referee)
This work deals with the families of children with disorders of the autistic spectrum, focusing on their siblings. The fírst part outlines the theoretical data concerning this issue. This part principally focuses on the issue of the families of children with autism, how it affects them, and the diffículties that can arise when there is a child with autism in a family. Another topič examined is the presence of other children in the family and the effect a sibling with autism has on them, including the professional or non-professional means of assisting these children or of overcoming any diffículties. The research part presents the results of the investigations. In order to achieve the aims of this thesis the author has used a combination of a quantative and qualitative approach - specifícally interviews with siblings, questionnaire surveys and monitoring. The families involved in the research are first briefly presented, followed the opinions of parents on the theme of the other children in the family, sibling relationships and the associated worries and desires. The main part focuses on a description of the most important aspects affecting the siblings of a child with autism. The finál part then describes the currently available means of helping the siblings of children with autism in the Czech Republic
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Pathway to inclusion: attitudes towards inclusive education of intellectually disabled children in the Czech Republic
Soo, Suzana ; Šiška, Jan (advisor) ; Černá, Marie (referee)
A small-scale research involving a total of 39 special education teachers and parents was conducted in the city of Sumperk and Rakovnik, in the Czech Republic. Since the implementation of the Equal Education Act in 2004, the numbers of children in segregated special schools remained high and the largest number of children attending these segregated special schools are intellectually disabled. It is believed that the attitudes of special education teachers and parents are important factors in contributing to the current situation in special schools. Powered by TCPDF (www.tcpdf.org)
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Learning how to Learn in Inclusive Secondary Education
Vermeulen, Dayan Egberdina Wilhelmina ; Strnadová, Iva (advisor) ; Černá, Marie (referee)
The topic of this dissertation is "Learning how to learn in inclusive secondary education." The central subject of this dissertation is the facilitation of processes in which students develop awareness of their own learning-styles and educational needs. In my opinion, awareness of learning-styles and awareness of personal educational needs by students and teachers should lead to educational programmes, environments, settings and facilitations that promote more effective and joyful learning for all. In their actual practices of educational change and development, schools meet several problems concerning the quality of education that produce questions for research. To find solutions for some of these questions we started a participative action research project. The action research area for this project was Inclusive Secondary Education and the coresearchers in the action-research process were teachers as well as students. All five schools involved in this research program are inclusive mainstream schools in the sense that children with visual or communication handicaps, physically and mentally handicaps (limit TIQ= 40) as well as students with behavioral problems and students without handicap are welcome. Powered by TCPDF (www.tcpdf.org)
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