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Evaluation of phenotypic expression of proximal 15q chromosomal region amplifications
Duračková, Jana ; Slámová, Zuzana (advisor) ; Trková, Marie (referee)
Proximal region of the long arm of chromosome 15 (region 15q11-q13) is susceptible to occurence of deletions, duplications and inversions in the process of non-allelic homologous recombination due to the presence of five breaking points. Manifestation of these aberrations can differ depending on the parental origin of the derivative chromosome due to the presence of imprinted genes. Deletions of this region cause well-known disorders - Prader-Willi and Angelman syndromes. Phenotypic features linked to amplifications of this region (autism, developmental delay, speech delay, epilepsy, hypotonia) are variable and these amplifications are often inherited from a healthy parent. This thesis concerns itself with evaluation of phenotypic expression of amplifications of chromosomal region 15q11.2q13.3 in terms of genotype-phenotype correlation with the aim to contribute to explanation of these recurrent findings. A cohort of 36 patients with a detected amplification of this region was divided into multiple groups according to various criteria - size and gene content of the amplification, parental origin of the amplification and the presence of a second detected variant. Within these groups, we also took the number of copies and the location of the amplified region (interstitial amplification/marker...
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Detection of submicroscopic chromosomal aberrations in phenotypically abnormal carriers of apparently balanced rearrangements using array CGH
Slámová, Zuzana
Carriers of apparently balanced chromosomal aberrations (BCA) are usually phenotypically normal. However, it has been estimated that up to 27% of these BCA may be associated with an abnormal phenotype, most often caused by cryptic imbalances at the breakpoints, gene disruption by the breakpoint or via the position effect. In contrast to conventional karyotyping, molecular cytogenetic techniques enable more detailed BCA characterization and better correlation between genotype and phenotype of the patient. The aim of this thesis was to evaluate the presence of copy number variants (CNVs) at breakpoints or elsewhere in the genome in patients with abnormal phenotype who carry de novo or inherited BCA. 54 BCA were investigated using array CGH (20 de novo cases, 27 inherited and 7 cases of unknown origin) including 32 reciprocal translocations, 6 robertsonian translocations, 12 inversions and 4 complex chromosomal rearrangements. If possible, the parents were also examined to ascertain the inheritance of the relevant CNVs. In order to specify microarray findings or exclude gene disruption, FISH was used in selected patients. Among the patients included, in 31,5% (17/54) at least one (in 8 patients more than one) significant CNV was detected. Four cases carried cryptic imbalances only at the breakpoints,...
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Detection of submicroscopic chromosomal aberrations in phenotypically abnormal carriers of apparently balanced rearrangements using array CGH
Slámová, Zuzana
Carriers of apparently balanced chromosomal aberrations (BCA) are usually phenotypically normal. However, it has been estimated that up to 27% of these BCA may be associated with an abnormal phenotype, most often caused by cryptic imbalances at the breakpoints, gene disruption by the breakpoint or via the position effect. In contrast to conventional karyotyping, molecular cytogenetic techniques enable more detailed BCA characterization and better correlation between genotype and phenotype of the patient. The aim of this thesis was to evaluate the presence of copy number variants (CNVs) at breakpoints or elsewhere in the genome in patients with abnormal phenotype who carry de novo or inherited BCA. 54 BCA were investigated using array CGH (20 de novo cases, 27 inherited and 7 cases of unknown origin) including 32 reciprocal translocations, 6 robertsonian translocations, 12 inversions and 4 complex chromosomal rearrangements. If possible, the parents were also examined to ascertain the inheritance of the relevant CNVs. In order to specify microarray findings or exclude gene disruption, FISH was used in selected patients. Among the patients included, in 31,5% (17/54) at least one (in 8 patients more than one) significant CNV was detected. Four cases carried cryptic imbalances only at the breakpoints,...
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Detection of submicroscopic chromosomal aberrations in phenotypically abnormal carriers of apparently balanced rearrangements using array CGH
Slámová, Zuzana ; Sedláček, Zdeněk (advisor) ; Michalová, Kyra (referee) ; Kuglík, Petr (referee)
Carriers of apparently balanced chromosomal aberrations (BCA) are usually phenotypically normal. However, it has been estimated that up to 27% of these BCA may be associated with an abnormal phenotype, most often caused by cryptic imbalances at the breakpoints, gene disruption by the breakpoint or via the position effect. In contrast to conventional karyotyping, molecular cytogenetic techniques enable more detailed BCA characterization and better correlation between genotype and phenotype of the patient. The aim of this thesis was to evaluate the presence of copy number variants (CNVs) at breakpoints or elsewhere in the genome in patients with abnormal phenotype who carry de novo or inherited BCA. 54 BCA were investigated using array CGH (20 de novo cases, 27 inherited and 7 cases of unknown origin) including 32 reciprocal translocations, 6 robertsonian translocations, 12 inversions and 4 complex chromosomal rearrangements. If possible, the parents were also examined to ascertain the inheritance of the relevant CNVs. In order to specify microarray findings or exclude gene disruption, FISH was used in selected patients. Among the patients included, in 31,5% (17/54) at least one (in 8 patients more than one) significant CNV was detected. Four cases carried cryptic imbalances only at the breakpoints,...
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Nurse's role in patient care with bronchopneumonie
SLÁMOVÁ, Zuzana
Pneumonie is the most common lung disease whose incidence does not decrease even at a time of ever more efficient antibiotik. They occur the most in childhood and in old age, but they can also occur because of aspiration. This disease today is quite actual because according to estimates, every year every hundredth man comes down with disease in the Czech Republic. It is approximately about 1 000 000 to 1 500 000 citizens. It affects the elderly and young children most commonly. The prognosis in uncomplicated pneumonia is usually favourable. Especially those with other associated diseases are endangered. The age of patient, reported over the age of 60 years, is prognostically important. The total prevention of the flu in the form of active immunization is very important. This immunization is very effective and reduces the number of respiratory diseases. Two aims were determined for this bachelor work. The first aim was to map the specifics of nursing care for patients with bronchopneumonie. The second aim was to map the nurses' knowledge about the disease bronchopneumonia. Three research questions were established in the relationship to specified targets. The first research question focused on the care of patients with bronchopneumonie. The second one on how nurses acquire the necessary information. The third one, last question, focused on the specifics in providing nursing care for a patient with bronchopneumonia. For achievement of the results of the practical work was used qualitative research, which was conducted through semi - structured interview with general nurses from lung and internal departments. On the base of data analysis 10 categories and several subcategories was determined. Based on data analysis, it was found out that the specifics of nursing care in which respondents agreed include the use of antibiotics as a drug of choice. Among other procedures, respondents said the symptoms treating. Among the reported drugs to treat symptoms were most frequently mentioned mucolytics, expektorantia and antipyretics. They also agreed on the necessity and importance of sleep mode. In the area of treatment, some respondents agreed that the most important nurse interventions is taking care of the airways and also adequate fluid intake. In relation to knowledge, it was found out that all respondents have the necessary knowledge and information supplements and they improve them. The most common source was the Internet or professional publications or other literature. The respondents had sufficient and true knowledge of the disease itself. The research shows that nurses have the necessary and sufficient knowledge about the disease bronchopneumonia. They know the specifics in providing nursing care for patients with bronchopneumonia. The research showed that the biggest problem for patients is keeping idle mode. The most frequent interventions in addressing this issue sisters bring educational form and explanation of the necessity of keeping idle mode. The proposal of standard and informative brochure were created in conclusion arising from the survey.
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Diagnostics of exanthematic childhood diseases
Slámová, Zuzana ; Doleželová, Eva (advisor) ; Prašnická, Alena (referee)
Zuzana Slámová Diagnostics of exanthematic childhood diseases Bachelor thesis Charles University, Faculty of Pharmacy in Hradec Králové Health bioanalytics Background: The aim of the bachelor thesis was to determine the morbidity, incidence and prevalence of selected exanthematic childhood diseases (measles, scarlet fever, rubella, fourth disease, fifth disease and chickenpox) in the period 2013 - 2016 at the Department of Clinical Microbiology and Immunology of Regional Hospital Liberec, a. s. including a comparison with occurance of diseases in the whole Czech Republic. Methods: The methodical part was focused on the methods which are the basis of specific analyzers at the Department of Clinical Microbiology and Immunology of the Regional Hospital Liberec, a. s. These methods are ELISA, CLIA, KFR, PCR and cultivation. Analyzers used to diagnose antibodies against selected diseases are Alegria® (ORGENTEC), LIAISON® XL (DiaSorin) and Chorus Trio (DIESSE). For the direct quick detection of the disease was used quantitative PCR (qPCR) method on the CFX96 Touch ™ Real-Time PCR Detection System (BioRad). Detection of bacterial agents was performed by cultivation. Results: The results were processed over the period 2013 - 2016 from data provided by the Department of Clinical Microbiology and Immunology...
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