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Correlation of Molecular-Genetic and Morphological Markers of Rare Salivary Gland Tumors
Šteiner, Petr ; Skálová, Alena (advisor) ; Laco, Jan (referee) ; Šíma, Radek (referee)
Thesis deals with relationship between histomorphological and molecular-genetic findings of selected salivary gland tumors. Author, as a molecular-cytogeneticist mainly focused on detection of tumor-specific translocations of the salivary gland tumors which can serve as differential diagnostic markers. The thesis is composed as a commented files of authors own publications, and it is divided into four parts. First part deepens the knowledge of salivary adenoid cystic carcinoma. It was proved, that t(6;9)(q22-23;p23-24) resulting in fusion of transcription factors MYB-NFIB, or more rarely t(8;9) resulting in MYBL1-NFIB fusion represent robust differential diagnostic marker of adenoid cystic carcinoma. Further it was proved, that the 1p36 deletion can serve as an unfavorable prognostic indicator of adenoid cystic carcinoma, as the patients with 1p36 deletion had significantly lower survival. Second part summarizes new developments about mammary analogue secretory carcinoma (MASC), which was described by our group as a new salivary tumor entity characterized by translocation t(12;15)(p13;q25) resulting in ETV6-NTRK3 fusion. Another novel observation is a discovery of ETV6-RET fusion in a subset of MASC cases. Further, the first two MASCs of nasal mucosa origin have been described. Third part consists...
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Correlation of Molecular-Genetic and Morphological Markers of Rare Salivary Gland Tumors
Šteiner, Petr ; Skálová, Alena (advisor) ; Laco, Jan (referee) ; Šíma, Radek (referee)
Thesis deals with relationship between histomorphological and molecular-genetic findings of selected salivary gland tumors. Author, as a molecular-cytogeneticist mainly focused on detection of tumor-specific translocations of the salivary gland tumors which can serve as differential diagnostic markers. The thesis is composed as a commented files of authors own publications, and it is divided into four parts. First part deepens the knowledge of salivary adenoid cystic carcinoma. It was proved, that t(6;9)(q22-23;p23-24) resulting in fusion of transcription factors MYB-NFIB, or more rarely t(8;9) resulting in MYBL1-NFIB fusion represent robust differential diagnostic marker of adenoid cystic carcinoma. Further it was proved, that the 1p36 deletion can serve as an unfavorable prognostic indicator of adenoid cystic carcinoma, as the patients with 1p36 deletion had significantly lower survival. Second part summarizes new developments about mammary analogue secretory carcinoma (MASC), which was described by our group as a new salivary tumor entity characterized by translocation t(12;15)(p13;q25) resulting in ETV6-NTRK3 fusion. Another novel observation is a discovery of ETV6-RET fusion in a subset of MASC cases. Further, the first two MASCs of nasal mucosa origin have been described. Third part consists...
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Dynamometry as a prognostic and prediction marker
Drobná, Zuzana ; Kovařík, Miroslav (advisor) ; Doleželová, Eva (referee)
Charles University Faculty of Pharmacy in Hradec Králové Department of Biological and Medical Sciences Student: Zuzana Drobná Supervisor: PharmDr. Miroslav Kovařík, Ph.D. Title: Dynamometry as a prognostic and prediction marker Dynamometry is a method for measuring muscle strength. It is one of the methods of biomechanical motion analysis. There are two types of dynamometry. Isokinetic dynamometry is based on isokinetic muscle contraction. In this contraction, the muscles change their length. Isometric dynamometry is based on isometric muscle contraction. The length of the muscle does not change during the contraction. In my master thesis, 22 studies were included. Of this, 18 were engaged in a dynamometer, which measured muscle strength. Studies have been focused on prediction of short and long-term mortality, prognosis of hospitalized and severely ill patients, prediction of disease symptoms (cancer, chronic obstructive pulmonary disease, liver disease). I searched for studies according to the PubMed database. In 16 studies, it was confirmed that dynamometry can be used in the present time as a reliable diagnostic, predictive and prognostic method. Dynamometry is characterized as a simple, objective, non-invasive, easily transposable and reproducible method. Keywords: dynamometer, muscle...
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Finalizing the full genome sequence of epidemic strain Burkholderia cenocepacia ST32 and identification of a prognostic marker for infections that are caused by the ST32 strain in patients with cystic fibrosis
Vavrová, Jolana ; Dřevínek, Pavel (advisor) ; Wiedermannová, Jana (referee)
Burkholderia cenocepcia is one of the serious infectious agents of respiratory tract among cystic fibrosis patients. There are problems mainly with strains which are capable of epidemic spread. The known epidemic in the Czech Republic was caused by ST32 strain in the past. In this work, there was completed whole genome sequence of referential isolate 1232 of B. cenocepacia ST32 in cooperation with bioinformatics by new generation sequencing techniques and by determining the problematic areas by a combination of Sanger sequencing bioinformatics approaches and manual assembling of sequence reads localized in these areas. The final version of the genome sequence was annotated by PGAAP and at the present time it is finalized. Second part of this work is dedicated to looking for a prognostic marker of infection caused by ST32 strain in patients with cystic fibrosis. We analysed the results of ST32 trancriptomic experiment and chose genes possibly connected with the cepacia syndrome - serious, mostly fatal state of infection. By quantitative PCR we compared their expression in isolates from 4 patients from time of cepacia syndrome and month before that. We checked the possibility of direct detection of the expression of these genes in clinical material. We identified genes for type III secretion system as...
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