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Characterization of the effect of human mutated huntingtin on the neuronal stem cell differentiation.
Budková, Kateřina ; Vodičková, Kateřina (advisor) ; Romanyuk, Natalyia (referee)
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by an expansion of the CAG codon repeat in the huntingtin gene (HTT). This expansion causes a change in the biochemical properties of the huntingtin protein (HTT), its aggregation and cellular toxicity, which leads to the degeneration of brain neurons, especially in the striatum. Induced pluripotent cells (iPSC) derived directly from HD patient cells can serve as a model system for in vitro modeling of this disease. Because neuronal dysfunctions occur in HD patients years before the first clinical symptoms manifest, this model system may help elucidate the mechanisms that precede the onset of the disease. The aim of this thesis was to differentiate iPSCs (derived from fibroblasts of HD patients and healthy controls) into neural stem cells (NSCs) and subsequently into neuronal cell populations and to monitor molecular changes in their differentiation associated with the effect of mutated HTT. The differentiation process was monitored based on selected markers using immunofluorescence, western blot and qRT-PCR. We were able to generate stable NSC lines derived from 3 control and 3 HD iPSC lines. All 6 NSC lines were able to further differentiate into neural populations. At the transcriptional level, we found a higher...
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Methods of molecular cytogenetics: evolution, analysis, comparison
Budková, Kateřina ; Šolc, Roman (advisor) ; Daňková, Pavlína (referee)
Cytogenetics is a branch of genetics that is concerned with the study of the structure and function of chromosomes, especially during the cell division. Chromosomal abnormalities that may occur during this process are often associated with the emergence of various diseases. Cytogenetic methods are primarily used to detect these abnormalities. Traditional methods allow resolution at the level of whole chromosomes, the introduction of new molecular methods led to a significant refinement of these analyzes. Today's methods allow easy analysis of chromosomes to the level of individual sequences. Despite significant differences between classical and modern cytogenetic techniques, classical cytogenetic methods are not evil, but they are still widely used. Combining classical and molecular methods in order to obtain a comprehensive analysis of chromosomal rearrangements is no exception.
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The Instruments of Social Worker in Social Work with the Family and the Child with disability
BUDKOVÁ, Kateřina
The objective of this research paper is to elaborate on issues surrounding coope-ration between families with children with disabilities and social workers who provide them with relevant social services. Family represents a core aspect of nurture, and is irreplaceable in the overall child's welfare. It today's society the families are also supported by qualified social workers who help with care for disabled children. There is variety of rehabilitation programs available with qualified professionals providing services that encompass medical, social, and educational qualities. Within these rehabi-litation programs it is necessary that a multidisciplinary, and well-functioning team is established with each professional playing a specific role. In addition, active cooperati-on of all family members is essential. Social services as well as state institutions play a vital role in aiding these families. The goal of this paper is to identify the role of institutions and social workers aiding families with children with disabilities. The research includes organizations whose social services are primarily focused on assisting families with disabled children. Qualitative research was performed to support the empirical portion of this paper. Coll-ection of data was accomplished by interrogations with structured discussions. The examined sample included ten social workers providing services to families with chil-dren with disabilities. The pivotal question was established as part of this research, as follows: To what extend does the complex support of a disabled child include both the family and an institution? A secondary question was posed as follows: How does a fa-mily manage disabled child's welfare in instances where social institutions and workers are not relied upon? The conclusion of the research established that the social workers mainly function as a support system for families with children with disabilities. Social institutions and workers mainly assist to such families with difficult social aspects, providing direction, and laying out options for child's development. However, the key effort lies within the family itself. Additionally, the study established that utilizing of the social workers by the families is advantageous. It was also made clear that it is extremely challenging for families to care for their disabled child on their own.
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Social Work with a Family in the Reaction to Changes of Forms of Partner Relationships
BUDKOVÁ, Kateřina
This research focuses on issues of alternative coexistence of families, which structure differs from the one of a traditional family. An example of the traditional family structure is a married couple with their own or adopted children; as opposed to cohabitation, singles, or parenting without a partner. The goal of this work is to identify the reasons for an alternative family structure. Moreover, why do people choose to live in a non-marital status, single, and parenting without a partner? Individuals living in the alternative family structure were chosen for this study. Data were collected by using qualitative phenomenological method of research. A phenomenon of the new alternative family structure was being researched, and the goal was to identify the reasons that lead to the chosen alternatives of family and marriage. A semi-structured interview technique was used to collect data along with a method called "snowball" strategy. The goal of the research was to answer the main question: What are the reasons that lead to alternative forms of family life? The research showed several possible causes of why, in today's modern society, people choose marriage less and are not interested in traditional ways of family living, but prefer other forms of coexistence. This work can be used as a base for future research of this issue. The data could show how nowadays families live in a modern society.
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