5 Abstract Definitive diagnosis of inherited metabolic disorders commonly depends on the measurement of enzyme activity (which is often complicated) and/or molecular genetic testing. Yet even the standard mutation analysis can bring false negative results in the case of gross chromosomal rearrangements or incorrect regulation of gene expression due to the mutations in regulatory regions. In the present study I focused on characterization of complex mutations affecting the gene encoding ornithin transcarbamylase (OTC) followed by studies of regulatory regions of OTC and GBA (the gene encoding β-glucocerebrosidase). In the first study we identified 14 novel mutations including three large deletions in a cohort of 37 patients with OTC deficiency (OTCD). Subsequently we evaluated clinical significance of all these mutations. We also found a heterozygote carrying a hypomorphic mutation and manifesting OTCD most likely due to unfavorable X-inactivation which was observed independently in three different peripheral tissues. In order to evaluate the clinical significance of a promoter variation c.-366A>G found in a family with mild OTCD we identified three alternative transcription start sites (TSSs) of human OTC and delimited the promoter. We also found a distal enhancer and performed functional analysis of both...

This diploma work studies quality of life of patients suffering from Bechtěrev disease (Ankylosing Spondylitis), who had global four-weeks cure in Berta Health Spa in Třeboň from 1st January to 31st July 2006. Hypothesis says that six months after the end of balneotherapy the quality of life of these patients will be higher than before. For confirmation or confutation of this hypothesis there was used quantitative method of research, in form of adjusted questionnaire for detection of quality of Life by SEIQoL concept (Schedule for the Evaluation of Individual Quality of Life). By this measure respondents are allowed to nominate five areas of life (aims of life), which are most important, together with percentage rate of their satisfaction with each and the relative importance of each. Average life-quality index of the respondents before balneotharapy was 60,4 %, six months after the end of balneotharapy it was 62,7 %. Thus six months after the end of the cure the respondents have higher quality of life. Then there were mentioned and discussed differences in perception of quality of life of various age groups and of gender. There was also accomplished order of the most often mentioned aims of life, as well an analysis of ``health{\crqq} as alife aim was done. This diploma work could be used in cultural work and for improvement of informedness in problematic of life quality. But mainly, it could be perhaps taken as a little controversial report to the discussion about using of assorted exploratory concepts for evaluation of quality of life.

Cardiovascular diseases in the Czech Republic represent the main cause of death and significantly contribute to the sickness rate and premature disability. Possibilities of treatment of cardiovascular diseases keep developing increasingly these days. An important part is the follow up spa treatment as well as sufficiently performed effective cardio rehabilitation. The theoretical part characterizes functional examination of the lungs and stress tests in cardiology. Simultaneously it describes early spa treatment and defines quality of life. The aim of the diploma thesis, which deals with the vital capacity of the lungs, was to prove positive effect of early spa treatment on the vital capacity of the lungs and on improvement of quality of life, specifically with respect to positive perception of one´s overall physical health. Hypotheses - H1: An early spa therapy positively affects spirometry values. H2: Patients with an early spa therapy better perceive their overall physical health. A form of quantitative research was chosen, in order to verify the determined aims and hypotheses of the diploma thesis. A standardized international Short Form SF - 36 questionnaires on quality of life was used for the data collection. Spirometry was utilized for ascertaining objective functional parameters. Values of spirometry examination were used for comparison. 32 patients after cardiovascular surgery were included in the research, who were transferred to Lázně Poděbrady on the 6th - 8th day after the surgery, 22 of them being men (69%) and 10 women (31 %). The average age of patients under research was 66,06 + 11,48 years. The check group consisted of 10 healthy volunteers. 8 women (80 %) and 2 men (20 %) at the average age of 37,1 + 13,3 years were included in the research. It follows from the spirometry results measured before the heart surgery at IKEM cardio center that a difference in results between the second and third spirometry occurred. The second and third spirometrical examination is the period of time, when the respondent undergoes the early spa treatment. After the heart surgery spirometry values worsen and improve in the course of the spa therapy. The research showed that the perception of overall physical health after the heart surgery is subject to perception of pain, which negatively affected sense of overall perception of physical health. H1 was confirmed and H2 was not confirmed. In order to improve current situation, it would be suitable to devote not only to cardio rehabilitation but also to improvement of perception of pain, e.g. by means of psychotherapy (art therapy, music therapy?). It is also important to widen a possibility of outpatient cardio rehabilitation in each cardio center for patients after heart surgery.

The diploma thesis is aim at analysis of determinants that determine whether is the market of homes for the elderly and homes with special regime attractive for current and potential entrepreneurs. Theoretical part explains the phenomenom of population ageing, analyzes predictions of population development and the development of number of people suffering from Alzheimer disease, senior's financial resources, reasearches rights and duties of social services providers and analyzes effectiveness of financing the social services according to the type of founder. For needed findings is used analysis of specialized literature and studies. Analytical part analyzes preferences for examined kinds of social services. Offers practical example of running the home with special regime and brings the opinions of specialists on economization of social services. In the end of work are collected findings evaluate by means of SWOT analysis.

Title: Kinesiophobia, her predictors and consequences in selected chronic diseases - theoretical review Objectives: To review the issue of the occurrence of kinesophobia in various chronic diseases and to identify its predictors. Methods: The diploma thesis was prepared in the form of a literature search using electronic resources of the National Medical Library, the Central Physical Education Library and professional databases Pubmed, EBSCO, SCORPUS, Medline, Web of Science. The first half of the work summarized all the theoretical background and knowledge of kinesophobia and selected chronic diseases. The second half was focused on the processing of the issue of kinesophobia in selected chronic diseases and on the mapping of their predictors. Results: Based on the processing of available resources dealing with the issue of kinesophobia in selected chronic diseases, a comprehensive overview was created. In patients with chronic low back pain, high levels of kinesophobia were most often associated with chronic pain, functional impairment associated with the disease, obesity, low levels of education, and emotional states (anxiety, depression). In coronary heart disease, high levels of kinesophobia were associated with a lack of understanding of the need for physical activity, social support,...

This thesis discusses the design and the utilization of the artificial neural networks as ECG classifiers and the detectors of heart diseases in ECG signal especially myocardial ischaemia. The changes of ST-T complexes are the important indicator of ischaemia in ECG signal. Different types of ischaemia are expressed particularly by depression or elevation of ST segments and changes of T wave. The first part of this thesis is orientated towards the theoretical knowledges and describes changes in the ECG signal rising close to different types of ischaemia. The second part deals with to the ECG signal pre-processing for the classification by neural network, filtration, QRS detection, ST-T detection, principal component analysis. In the last part there is described design of detector of myocardial ischaemia based on artificial neural networks with utilisation of two types of neural networks back – propagation and self-organizing map and the results of used algorithms. The appendix contains detailed description of each neural networks, description of the programme for classification of ECG signals by ANN and description of functions of programme. The programme was developed in Matlab R2007b.

The presented thesis discusses the basic analysis methods of arteriovelocitograms. The core of this work rests in classification of signals and contribution to possibilities of noninvasive diagnostic methods for evaluation patients with peripheral ischemic occlusive arterial disease. The classification employs multivariate statistical methods and principles of neural networks. The data processing works with an angiographic verified set of arteriovelocitogram dates. The digital subtraction angiography classified them into 3 separable classes in dependence on degree of vascular stenosis. Classification AVG signals are represented in the program by the 6 parameters that are measured on 3 different places on each patient’s leg. Evaluation of disease appeared to be a comprehensive approach at signals acquired from whole patient’s leg. The sensitivity of clustering method compared with angiography is between 82.75 % and 90.90 %, specificity between 80.66 % and 88.88 %. Using neural networks sensitivity is in range of 79.06 % and 96.87 %, specificity is in range of 73.07 % and 91.30 %.

This project describes design of the system for diagnosis Parkinson’s disease based on speech. Parkinson’s disease is a neurodegenerative disorder of the central nervous system. One of the symptoms of this disease is disability of motor aspects of speech, called hypokinetic dysarthria. Design of the system in this work is based on the best known segmental features such as coefficients LPC, PLP, MFCC, LPCC but also less known such as CMS, ACW and MSC. From speech records of patients affected by Parkinson’s disease and also healthy controls are calculated these coefficients, further is performed a selection process and subsequent classification. The best result, which was obtained in this project reached classification accuracy 77,19%, sensitivity 74,69% and specificity 78,95%.

This diploma thesis deals with an analysis of subject’s movement during measurements with funcional magnetic resonance imaging (fMRI). It focuses on methods of a movement artifacts detection and their removal in fMRI images. Thesis deals with metrics which are used for the movement rate of measured subjects evaluation. Metrics and a correction of movement are implemented into the programme in MATLAB. Comparison of subjects suffering from Parkinson’s disease with a group of healthy control was carried out. Tresholds of individual metrics were suggested and a criterion for the removal of subjects with high movement rate was determined.

The diploma thesis deals with the non-invasive analysis of progression of Parkinson´s disease using the acoustic analysis of speach. Hypokinetic dysarthria in connection with Parkinson´s disease as well as speech parameters are described in this work. Speech parameters are sorted according to the speech component they affect. The work uses the phonation of vowels "a" speech task as the most commonly used speech task in the field of pathological speech processing, because of its resistance to demographic and linguistic characteristics of the speakers. Based on obtained knowledge, in MATLAB development enviroment were created systém for UPDRS III scale estimation. The UPDRS III scale is based on subjective diagnosis given by the doctor. At first, one individual parameter is used for the UPDRS III scale value estimation. Then the feature selection using SFFS algorithm is applied to gain feature combination with minimal estimation errror. Attention i salso paid to correlation between individual symptoms and UPDSR III scale.