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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...
Detailed record
Ecological and epidemiological aspects of tick-borne encephalitis
GREGOROVÁ, Eva
Tick-borne encephalitis (TBE) virus is endemic in many countries in central, eastern and northern Europe. Nowadays its importance rises because of its increasing incidence. This study focuses on characterization of tick-borne encephalitis virus, its host and human disease caused by this pathogen and efficacy of available vaccines. Furthermore, an evaluation of climatic changes and their influence on TBE incidence is discussed.
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Ecological and epidemiological aspects of Lyme borreliosis.
BREJCHOVÁ, Lucie
This Bc. thesis deals with the most common human tick-borne disease the Lyme borreliosis, its occurence and clinical features. Spirochetes from the Borrelia burgdorferi complex are causative agens of the disease. Ticks of the genus Ixodes are responsible for pathogen transmission from wild animals to humans.
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