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The Integration Process of the Pupil with Visual Impairments in Mainstream Preschool and Primary Education, a Case Study
BLÁHOVÁ, Petra
This thesis deals with integration process for visually impaired child during preschool and elementary education. Basic information and importance of family during integration are provided as well as basic terminology connected to visually impaired child and its integration into society. The aim of this thesis is to give professional view of integrational education of visually impaired children, describe and analyse educational past and present of visually impaired pupil. The thesis is divided into two parts, a theoretical and a practical part. The theoretical part gives definition of basic structures which are connected with visual impairment. First chapter deals with visually impaired child, its classification, definitions and most frequent ophthalmological diagnosis. In second chapter specifics of visually impaired children can be found - cognitive functions, motor skills and socialization. Compensatory possibilities are provided in chapter three. It also concerns with visual, tactile and auditory perception and higher compensatory senses. Last chapter focuses on the education system of visually impaired students. It describes conceptual and legislative framework, preschool and elementary education, its specifics and factors affecting process of education in the main educational stream. The practical part is focused on specific student who was incorporated in usual kindergarten as well as in kindergarten for visually impaired children. Later on, she was attending usual elementary school. I used case study for my practical part. My goal was to demonstrate methodological procedures which were used during student's integration into the main educational stream. The research shows that elementary school tries to get visually impaired student involved in the main educational stream. However, all complete options concerning visually impaired children cannot be substituted. Student works more with the teaching assistant than the teacher. Classroom socialization turns out to be successful, although there are no other students with disabilities and she would welcome one.
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Turner syndrome and its relation with X chromosome inactivation
Kašíková, Lenka ; Schierová, Michaela (advisor) ; Král, Jiří (referee)
Turner syndrome (TS) is a genetic anomaly occurring in women with worldwide frequency 1:2,000. Turner syndrome's possible causes include X chromosome monosomy, mosaic karyotype (45,X/46,XX; 45,X/46,XY; 45,X/47,XXX), X isochromosome (46,X,i(Xq)), ring X chromosome (45,X/46,X,r(X)), and other X chromosome aberrations (deletion and translocation). Patients with Turner syndrome (with the exception of ring chromosome abnormalities) aren't diagnosed with mental retardation. Turner syndrome is closely related to the regulation of gene expression level, particularly with X chromosome inactivation. Genes escaping the X chromosome inactivation process in 45,X women are expressed in half the dose of a healthy woman. An example of such a gene is SHOX, which I decided to focuse on in this thesis. SHOX gene haploinsufficiency causes major Turner syndrome phenotype manifesting of short body and bone abnormalities. The research of other genes with possible roles in Turner syndrome is complicated by the absence of adequate model organism, which could be used for TS study with possibility to extrapolate the results to humans. In mice, both the inactivation process itself is different and the phenotypic manifestation of X monosomy (39, X) is also much milder than in 45,X women. This difference could be explained by...
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Turner syndrome and its relation with X chromosome inactivation
Kašíková, Lenka ; Schierová, Michaela (advisor) ; Král, Jiří (referee)
Turner syndrome (TS) is a genetic anomaly occurring in women with worldwide frequency 1:2,000. Turner syndrome's possible causes include X chromosome monosomy, mosaic karyotype (45,X/46,XX; 45,X/46,XY; 45,X/47,XXX), X isochromosome (46,X,i(Xq)), ring X chromosome (45,X/46,X,r(X)), and other X chromosome aberrations (deletion and translocation). Patients with Turner syndrome (with the exception of ring chromosome abnormalities) aren't diagnosed with mental retardation. Turner syndrome is closely related to the regulation of gene expression level, particularly with X chromosome inactivation. Genes escaping the X chromosome inactivation process in 45,X women are expressed in half the dose of a healthy woman. An example of such a gene is SHOX, which I decided to focuse on in this thesis. SHOX gene haploinsufficiency causes major Turner syndrome phenotype manifesting of short body and bone abnormalities. The research of other genes with possible roles in Turner syndrome is complicated by the absence of adequate model organism, which could be used for TS study with possibility to extrapolate the results to humans. In mice, both the inactivation process itself is different and the phenotypic manifestation of X monosomy (39, X) is also much milder than in 45,X women. This difference could be explained by...
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Molecular cytogenetic analysis of mosaic chromosomal abnormalities
Cinkajzlová, Anna ; Kočárek, Eduard (advisor) ; Král, Jiří (referee)
The focus of this diploma thesis is on mosaic numerical and structural chromosomal aberrations. In its theoretical part, general problems of mosaicism, its phenotypic effect, mechanisms of origin, related epigenetic modifications, and diagnostic options are described. The methodical part of the thesis then primarily refers to fluorescence in situ hybridization (FISH) and its application in the diagnostics of mosaicism. This method was used in the examination of 29 patients with numerical as well as structural abnormalities of autosomes or gonosomes with proven or suspected mosaicism. On the basis of this analysis, possible errors of measurement were determined and data for statistic evaluation were retrieved. For the examinations of three patients an alternative of the comparative genomic hybridization, the array CGH technique, was applied. The FISH method, although being based on random selection and human factor, proved sufficient sensitivity as well as specificity in the field of low-frequency mosaicism diagnostics. The main critical factors responsible for potential misinterpretation of the data arose from inherent characteristics of the biological material, incorrect targeting of the analysis, probe instability, bleed through effect and absence of mitosis during the structural aberrations analysis.
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Possibilities of assessment and the relevance of the results of FISH analysis of chromosomal abnormalities in mosaics
Neužilová, Linda ; Kočárek, Eduard (advisor) ; Panczak, Aleš (referee)
This bachelor thesis deals with mosaicism and its detection. Mosaicism is defined as the presence of two or more cell lines with different karyotype in the patient's body. An aspect of particular importance for the resulting phenotype is the overall ratio in which the individual cell lines are represented. It is often found in Turner and Klinefelter syndrome. Turner syndrome is caused by the loss of a part of, or the whole of the X chromosome in females and it belongs among the most common chromosomal constitutions, found in spontaneous abortions. However, it is estimated that only about half of the women with Turner syndrome have karyotype 45,X; the others are mosaics or have other abnormalities of the chromosome X. The main aim of the practical part of this thesis was to evaluate the possibilities of detecting mosaicism using fluorescence in situ hybridization (FISH) and to consider the possible factors affecting the accuracy of the examination. The objectives of the assessment were the individual variability between the evaluators and also the differences caused by using two differently labelled probes. As a result, the thesis confirms that the FISH method enhances the accuracy of the results of conventional cytogenetic examination and it is suitable for analysis of mosaicism thanks to the possibility of...
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The role of peripheral quantitative CT in early diagnostics of osteoporosis in chronically ill children
Souček, Ondřej ; Šumník, Zdeněk (advisor) ; Hoza, Jozef (referee) ; Zapletalová, Jiřina (referee)
Patients with Turner syndrome (TS) have increased fracture risk and decreased bone density, patients with severe hemophilia have low bone density. The etiology of these changes hasn't been completely elucidated in any of the two diseases. Our aimes were to assess bone density and geometry at the radius using a new method peripheral quantitative CT densitometry (pQCT) and to describe associations between densitometry parameters and estrogen treatment in TS and laboratory as well as clinical markers of disease severity in haemophilia. Sixty-seven girls with TS (median age 14.3 years, range 6.0-19.4) and 42 boys with haemophilia (median age 12.7 years, range 6.6-19.2) have been measured using peripheral quantitative CT at the radius. The results have been compared to published reference data. Girls with TS had decreased cortical bone density and thinner cortex. These parameters were positively correlated to the length of estrogen treatment. Trabecular bone density was normal in prepubertal girls but it was decreased after puberty. There was no association between trabecular bone density and the estrogen treatment. Boys with haemophilia had decreased trabecular density and low muscle area at the forearm. Densitometry parameters were influenced neither by the clotting factor VIII/IX level nor by the frequency of...
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Growth and bone mineral density in girls with Turner syndrome
Matysková, Jana ; Zemková, Daniela (advisor) ; Koloušková, Stanislava (referee)
Turner syndrome is disease caused by monosomy or other abnormalities of chromosome X. This syndrome affects exclusively females and is characterized by growth retardation leading to short final stature, gonadal dysgenesis and other abnormalities of different organs. This work describes current etiological and diagnostic aspects of Turner syndrome, especially growth failure and low bone mineral density as a factor contributing to increased bone fragility.
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Visualization of Cell Image Data
Černák, Michal ; Juránková, Markéta (referee) ; Juránek, Roman (advisor)
This thesis deals with extraction of data from cell images and their visualisation. Cell images are processed by FISH method. It discusses theory of diagnosis evaluation automation and cell features visualization. That concerns image processing, cell nuclei segmentation, feature extraction and data visualization.
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