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Analysis of genomic variants in patients with nerodevelopmental diseases with a focus on epilepsy.
Zůnová, Hana ; Vlčková, Markéta (advisor) ; Zemanová, Zuzana (referee) ; Fajkusová, Lenka (referee)
Epilepsy is a chronic neurological disease affecting millions of people worlwide. The etiology of epilepsy is heterogenous. Published studies confirm a strong genetic basis. While the genetic causes play a huge role in the development of epilepsy, the etiology remains unclear in many patiens. We present a cohort of 400 patients with epilepsy, who underwent whole genome testing focused on the detection of copy number variants (CNVs). The main criterion for inclusion into the group was manifestation of epilepsy in isolated form or in combination with other neurodevelopmental disorder or congenital anomalies. Genome-wide analysis was performed using two different platforms of array CGH (array comparative genome hybridization): SurePrint G3 CGH ISCA platform 4x180K and 8x60K (Agilent Technologies). For evaluation of clinical impact of detected CNVs different databases (DGV, ClinVar, OMIM, DECIPHER) and relevant articles were used. In our cohort we have detected 2730 CNVs in total and 86 of them (detected in 76 individuals), were evaluated as possibly clinically relevant - 82 CNVs were evaluated as a possible cause of epilepsy and 4 of them were evaluated as secondary finding without relationship to the patients' phenotype. Regarding to the current classification, 21/86 CNVs have been refered as...
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Genotype-phenotype correlation in selected rare disorders using molecular analysis of genome and gene variants
Vlčková, Markéta ; Sedláček, Zdeněk (advisor) ; Gaillyová, Renata (referee) ; Baxová, Alice (referee)
The work was focused on detailed analysis of patients with rare genomic and gene variants. We studied the impact of these variants on the phenotype of the patients. As the majority of our patients, both syndromic and non-syndromic, were reffered to the detailed analysis due to intellectual disability and/or autism spectrum disorder, the work was focused on these two clinical diagnoses. At the beginning we analyzed patients with aberrations detected using cytogenetic analysis, and the extent, gene content and mechanism of origin of the aberrations were refined using molecular genetic methods, most often high-resolution array CGH. Later we analyzed patients with rare or unique submicroscopic aberrations detected using aCGH or SNP array. Using these methodes we analysed in the project patients with deletions of Xp22.1-p22.3, 6q11-q13, 6q14-q16, Xq25, 1q21.1, Xp21.2-p21.3, 2p14-p15, 17q21.31, 9q21.3 a 2p15- p16.1, and a patient with an Xp21.2-p21.3 duplication. In the last years we proceeded to the analysis of syndromic cases using next generation sequencing. This led to the identification of point mutations in the HCFC1, KAT6B, SOS2 and KMT2D genes, which were further studied. The work contributed to the knowledge about the impact of the genome and gene variants identified on the phenotype of the...
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Inclusion problems at small school with composite classes
Vlčková, Markéta ; Kovaříková, Miroslava (advisor) ; Kočí, Jana (referee)
The thesis deals with the topic of inclusion, which is currently up to date and extensive because it affects many lives. Teachers and pupils, teacher assistants, parents, professionals and the wider public. This work deals with the theoretical definition of inclusion as such, based on current laws and literature. It provides a comprehensive view of information about inclusion, including its impact on school climate and individual classes that directly affect the health of all school life participants. It also describes in detail the environment of a small school with composite classes in the Czech Republic, which is crucial in the practical part of this work. The aim of the thesis is to find out the opinions, experiences and feelings of the teaching assistants at the village class school, which concern the education of pupils with special educational needs. It also includes a description of the real situation at the first stage of a small school with composite classes and the finding of the number and type of pupils with special educational needs. The key method was to select interviews with teacher assistants, with questions focused on day-to-day activities and relationships between teacher assistants and other school life participants. Subsequently they are analyzed and on the basis of evaluation...
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Genotype-phenotype correlation in selected rare disorders using molecular analysis of genome and gene variants
Vlčková, Markéta ; Sedláček, Zdeněk (advisor) ; Gaillyová, Renata (referee) ; Baxová, Alice (referee)
The work was focused on detailed analysis of patients with rare genomic and gene variants. We studied the impact of these variants on the phenotype of the patients. As the majority of our patients, both syndromic and non-syndromic, were reffered to the detailed analysis due to intellectual disability and/or autism spectrum disorder, the work was focused on these two clinical diagnoses. At the beginning we analyzed patients with aberrations detected using cytogenetic analysis, and the extent, gene content and mechanism of origin of the aberrations were refined using molecular genetic methods, most often high-resolution array CGH. Later we analyzed patients with rare or unique submicroscopic aberrations detected using aCGH or SNP array. Using these methodes we analysed in the project patients with deletions of Xp22.1-p22.3, 6q11-q13, 6q14-q16, Xq25, 1q21.1, Xp21.2-p21.3, 2p14-p15, 17q21.31, 9q21.3 a 2p15- p16.1, and a patient with an Xp21.2-p21.3 duplication. In the last years we proceeded to the analysis of syndromic cases using next generation sequencing. This led to the identification of point mutations in the HCFC1, KAT6B, SOS2 and KMT2D genes, which were further studied. The work contributed to the knowledge about the impact of the genome and gene variants identified on the phenotype of the...
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Analysis of clinical features in patients with autism and intellectual disability who were indicated to the investigation using SNP array
Petříková, Nikola ; Vlčková, Markéta (advisor) ; Panczak, Aleš (referee)
This bachelor thesis deals with the analysis of clinical features in patients with autism spectrum disorders who were investigated using DNA microarrays. The introductory section is focused on the definition of autism and its subtypes, on currently known genetic causes of this neurodevelopmental disorder and on the possibilities of the laboratory diagnosis. Autism is likely caused by CNV occurring in different loci of the human genome, which can be efficiently diagnosed using DNA microarrays. This technique enables the detection of many CNV, but in most cases only common population polymorphisms can be identified. Our group consisted of 98 patients who suffered from some subtype of autism spectrum disorder. All patients were investigated using the microarray HumanCytoSNP-12 manufactured by Illumina. A retrospective analysis of clinical features of interest that were found in the medical documentation of the patients was performed. Statistical analysis of the data was performed to find possible associations. Specific pairs of features were compared in more detail. Features with known correlation previously published in the literature or features where a correlation could be expected were selected for this detailed analysis. Some findings were concordant with the published data, but some were not. Finally, it...
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Health literacy in patients with diabetes mellitus of the second type
VLČKOVÁ, Markéta
The aim of this diploma thesis was to assess a level of health literacy of patients with diabetes mellitus type 2, describe the nurse's competences in the field of patients' level of health literacy and map the occurrence of podiatric outpatient clinics in Czech Republic. In theoretical part, we were discussing the health literacy in nursing, what the health literacy means and why it is important to improve it. We mentioned the education and the role of nurse in nursing and how this role is related to health literacy. Then we focused on diabetes mellitus type 2, its characteristics, prevention, development of disease, treatment and the most common complications related to this disease. The lifestyle is closely related to this disease, therefore the rules of a healthy lifestyle are mentioned in the last section of theoretical part. Research part was divided into three areas. The first areas consisted of interviews with general nurses working in general practitioner's outpatient clinics. The second area consisted of two research groups. One group consisted of nurses working in inpatient wards and nurses working in specialized diabetological outpatient clinics. Second group consisted of patients with diabetes mellitus type 2. Third area was created with two interviews and participant observation. The research was conducted in cooperation Professor Kvapil and two nurse educators who are actively engaged in education of patients with diabetes mellitus and they are trained by Lilly Company. The research showed that increasing of health literacy depends by the greatest part on patient him-/herself, his/her interest, cooperation and attitude to change of his/her lifestyle. The most active nurses in the field of increasing health literacy were nurses working in specialized diabetological outpatient clinics, who are trying to increase the health literacy particularly by educational sessions with patients. Mapping the presence of podiatric outpatient clinics showed that these clinics are available in each region of Czech Republic. It is very important to improve the health literacy of patients with this disease thereby strengthening their health and reducing the risk of complications associated with this disease. The results of the research provide information about increasing the health literacy in relation to diabetes mellitus type 2.
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Innovation activities in Germany in the context of smart specialisation
Vlčková, Markéta ; Vlčková, Jana (advisor) ; Vošta, Milan (referee)
Economic growth is slowing in many countries. It leads to a discussion on what sources of growth should countries focus. For this purpose, EU created the concept of smart specialization, which puts an emphasis on the most efficient use of public financial resources dedicated to research and development. The aim of this thesis is to find out on what industry Germany as a leader of EU innovation and its individual regions specializes and to identify potential areas for targeting resources to innovation, research and development. This will be determined by using the patent network. The secondary objective is to interconnect findings of patenting and analysis of innovation activities in various regions of Germany with international trade and to determine whether there is a correlation between innovation activity in a particular sector and export of the sector's products abroad.
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