The study of rare genetic diseases presents unique opportunity to uncover the genetic and molecular basis of human traits and greatly helped to the identification of genes, to the elucidation of their function and to the characterization of metabolic pathways and cellular processes. Over the past decades, linkage analysis has been appropriate approach to search for the genes causing Mendelian diseases and contributed to the identification of many genes, but the genetic cause of many diseases remains unknown. New methods of studying the human genome, microarray technology and massively parallel sequencing (next generation sequencing), represent a way to efficiently identify the cause of genetically determined diseases, based on direct observation of mutations in the genome of affected individuals. These techniques replaced the traditional method of disease gene identification represented by linkage analysis and sequencing of candidate genes and have become the standard approach to elucidate the molecular basis of diseases. In this work, i describe the the results achieved by using these methods - identification of the genes underlying mucopolysacharidosis type IIIC, isolated defect of ATP synthase, Rotor syndrome, autosomal dominat ANCL and GAPO syndrome.

The sentinel lymph node biopsy is part of recommended surgical staging guidelines in patients with early stages of cervical cancer. High success rates of bilateral detection of SLN are achieved in sites with adequate experience with this procedure. The sentinel lymph node biopsy without systematic pelvic lymph node dissection is currently considered inadequate procedure for stages IB to IIA of the disease. One of the benefits of sentinel lymph node detection is extensive histopathological examination using the ultrastaging protocol enabling detection of small metastases (i.e. micrometastases). At the moment, there is lack of evidence about oncological safety of sentinel lymph node biopsy which might replace systematic lymph node dissection in the future. Prognostic significance of micrometastases is also controversial due to the lack of data about their potential presence in non-sentinel lymph nodes in cases with negative sentinel lymph nodes. This dissertation deals with the concept of sentinel lymph node biopsy in the cervical cancer and focuses on several topics. We have shown that the presence of micrometastasis is associated with significant negative impact on patients' prognosis on the largest retrospective cohort of patients ever published. Only 67% of patients with micrometastasis have...

Methodology and issues of data transformation and its information value estimation during the integration of the heterogenous information sources PhDr. Ivan BARTOŠ Abstract This study focuses mainly on the data and information transformation issue. This topic is currently critical in several scientific and commercial areas. Information value, information quality and the quality of the source data differs between the various systems. This is not only due to the different topologies of the information sources but also because of its different understanding and a manner of storing the information describing the entity of the enterprise. Such information systems, respectively database systems in the scope of the thesis, could perform well as the stand alone systems. The issue appears in the moment when such heterogeneous systems are required to be integrated and the information shall be migrated between each other. The thesis is logically divided into four major parts based on these issues. The first part describes the methods that can be used to classify the data quality of the source system (the one to be integrated) from which the information can be extracted. Based on assumption of the common lack of project and system documentation hereby introduced methods can be used for such qualification even when the...

The Diploma thesis deals with the testing of electrically assisted turbochargers. Aim of this work is to apply the established way of the performance testing of conventional turbochargers for electrically assisted turbocharger. Part of this work is to create a program for the calculation of the observed characteristics of the turbocharger. The program is extended to the characteristics of the generator for electrically assisted turbocharger. The program will serve as a basic for control the data for tested motorsport applications.