National Repository of Grey Literature 48 records found  1 - 10nextend  jump to record: Search took 0.01 seconds. 
Analysis of genomic variants in patients with nerodevelopmental diseases with a focus on epilepsy.
Zůnová, Hana ; Vlčková, Markéta (advisor) ; Zemanová, Zuzana (referee) ; Fajkusová, Lenka (referee)
Epilepsy is a chronic neurological disease affecting millions of people worlwide. The etiology of epilepsy is heterogenous. Published studies confirm a strong genetic basis. While the genetic causes play a huge role in the development of epilepsy, the etiology remains unclear in many patiens. We present a cohort of 400 patients with epilepsy, who underwent whole genome testing focused on the detection of copy number variants (CNVs). The main criterion for inclusion into the group was manifestation of epilepsy in isolated form or in combination with other neurodevelopmental disorder or congenital anomalies. Genome-wide analysis was performed using two different platforms of array CGH (array comparative genome hybridization): SurePrint G3 CGH ISCA platform 4x180K and 8x60K (Agilent Technologies). For evaluation of clinical impact of detected CNVs different databases (DGV, ClinVar, OMIM, DECIPHER) and relevant articles were used. In our cohort we have detected 2730 CNVs in total and 86 of them (detected in 76 individuals), were evaluated as possibly clinically relevant - 82 CNVs were evaluated as a possible cause of epilepsy and 4 of them were evaluated as secondary finding without relationship to the patients' phenotype. Regarding to the current classification, 21/86 CNVs have been refered as...
Complex chromosomal aberrations in bone marrow cells of adult patients with myelodysplastic syndromes (MDS): frequency, mechanism of origin and clinical significance.
Rochlová, Kristina ; Zemanová, Zuzana (advisor) ; Novotná, Drahuše (referee)
Complex chromosomal aberrations occurs are described in approximately 20 % of patients with myelodysplastic syndrome (MDS) and are associated with a poor prognosis. Nevertheless, the mechanism and possible causes responsible for the emergence of these aberrations are not fully understood. There are two models describing the emergence of these aberrations, namely shattering of single chromosomes or their parts during the so-called cellular crisis (chromothripsis) and/or progressive accumulation of chromosomal aberrations during the course of the disease (clonal evolution). Using combination of cytogenomic methods we examined 61 samples of bone marrow from adult patients with MDS and a complex karyotype. Unbalanced aberrations with loss of genetical material were found in most cases. Chromosomes 5, 7 and 12 were most frequently involved in rearrangements. Clonal development, chromothripsis and both mechanism was detected in 26, 12 and 14 patients, respectively. Patients with deleted chromosome 5 included in complex karyotype had the shortest overall survival. The cause of emergence of complex aberrations did not affect survival. Cytogenomic analysis of complex aberrations allows detection of balanced and unbalanced changes and identification of important processes of tumorigenesis such as clonal...
Early Detection of Disease Progression in Patients with Myelodysplastic Syndromes.
Kaisrlíková, Monika ; Beličková, Monika (advisor) ; Kalinová, Markéta (referee) ; Zemanová, Zuzana (referee)
Myelodysplastic syndromes (MDS) are a heterogeneous group of clonal hematopoietic disorders with a risk of transformation into acute myeloid leukemia (AML). The International Prognostic Scoring Systems integrate clinical data and cytogenetics to determine the risk of AML transformation for individual patients. Precise risk assessment is crucial for treatment decision- making. The aim of this thesis was to identify molecular markers for the early detection of disease progression in MDS patients. Using cDNA microarrays and next-generation sequencing, we targeted long noncoding RNAs (lncRNAs) and recurrently mutated genes in bone marrow cells. In addition, we focused on the identification of pathways related to the progression of MDS and understanding how the identified biomarkers participate. In the transcriptome study, we identify 4 candidate lncRNAs that may serve as prognostic biomarkers of the adverse course of MDS: H19, WT1-AS, TCL6, and LEF1-AS. Using various statistical approaches, we determined the level of H19 to be a strong independent prognostic marker. Furthermore, our data showed that disruption of transcriptional coregulation of the imprinting locus H19/IGF2 and miR-675, which directly regulates H19 and plays a role in tumorigenesis, accompanies disease progression. In the genomic study...
School Evaluation for the Lower Grades of Primary Schools
Zemanová, Zuzana ; Linková, Marie (advisor) ; Kalbáčová, Jaroslava (referee)
Annotation: The diploma work has theoretic research characteristics. It deals with school assessment in primary school. Key words: assessment - school assessment - pupil - motivation Powered by TCPDF (www.tcpdf.org)
MicroRNAs in AML pathogenesis
Koutová, Linda ; Korabečná, Marie (advisor) ; Zemanová, Zuzana (referee) ; Kotyza, Jaromír (referee)
Acute myeloid leukemia (AML) is a very heterogeneous disease associated with cytogenetic aberrations and genetic mutations. Many of these changes have been revealed and their detection became usual part of the diagnostic process today. However, changes of expression profiles of small, noncoding RNAs, so called microRNAs (miRNAs), are less known and not used for diagnostics yet. These RNAs, 19-24 nucleotides long, take part in the regulation of expression of different genes through complementary base pairing to the 3'non- translated region (3'UTR) of the target messenger RNA (mRNA). They can influence key processes of the cell, like differentiation, proliferation or apoptosis. The changes in expression of different miRNAs are known from different types of cancers. In solid tumors, they are usually detected from bioptic samples; but also plasma samples are now in the center of attention as so called liquid biopsies providing the information about molecular genetic events in the organism. Many studies have revealed deregulated miRNAs in the bone marrow, full blood or isolated progenitor cells (CD34+) of AML patients, only four of them have analyzed plasma samples. We focused on the plasma samples and we targeted on such miRNAs, which levels differ at AML diagnosis and after the chemotherapy. Out of...
Molecular genetic analysis of selected cryptic rearrangements of human chromosomes
Šolc, Roman ; Hirschfeldová, Kateřina (advisor) ; Zemanová, Zuzana (referee) ; Kuglík, Petr (referee)
The presented dissertation summarizes the results of research focused on the study of cryptic rearrangements of human chromosomes. Specifically, it focuses on three core areas of research. The first area is the research of cryptic rearrangements identified as causal causes of mental retardation in patients with previously unknown aetiology. The most common are the so-called microdeletion syndromes. The large variability of the phenotype and often overlapping symptoms of microdeletion syndromes require a whole-genome approach. Within the research, 64 probands were investigated and in 10 (16%) cryptic rearrangements were found and further analyzed. The second area is the research of cryptic rearrangements associated with the pseudoautosomal region 1 (specifically with the SHOX gene region), which may be both natural components of population variability and the cause of the disease. Within the research, 98 patients with Léri-Weill dyschondrosteosis or idiopathic short stature were examined, with a causal mutation found in 68.8%, and 7.8% probands respectively. At the same time, the minor deletion (so-called L05101 deletion) was evaluated as a population polymorphism without an apparent phenotypic impact. Duplications with high pathogenic potential were identified by mean of comparative analysis of...
The Function of the Adaptor Molecules in Leukaemogenesis
Švojgr, Karel ; Zuna, Jan (advisor) ; Filipp, Dominik (referee) ; Zemanová, Zuzana (referee)
Acute lymphoblastic leukaemia is the most common malignancy in childhood. Various acquired and congenital factors are involved in leukemogenesis including aberrant cell signaling. Transmembrane adaptor molecules could play an important role in development and propagation of leukemia. In a first part of our study, we analyzed an expression of adaptor molecules PAG, LAT and NTAL in physiological lymphocyte precursors and in diagnostic samples of different subtypes of childhood acute lymphoblastic leukemia (ALL). In physiological lymphocyte development the expression of adaptor molecules has significant dynamics (increase of LAT and decrease of NTAL in T-lymphocyte development; decrease of PAG in B- lymphocyte development). Similarly, in subtypes of childhood ALL the expression of adaptor molecules is very different. Especially, TAL/AML1 positive acute lymphoblastic leukemia has a unique expression profile of adaptor molecules (high expression of PAG and LAT, low expression of molecule NTAL). In T-cell acute lymphoblastic leukemia the expression of NTAL molecule identifies two groups of patients - those, who respond favourably to initial prednisone treatment, have higher level of NTAL comparing to patients, who respond to prednisone unfavourably. Those patients have low level of NTAL molecule expression. In a...
Molecular-cytogenetic diagnostics of marker chromosomes
Tesner, Pavel ; Kočárek, Eduard (advisor) ; Zemanová, Zuzana (referee) ; Šubrt, Ivan (referee)
Supernumerary marker chromosomes (sSMCs) are a relatively rare cytogenetic phenomenon. Their laboratory examination is often difficult, and the clinical interpretation is even more challenging. The main reason is that most sSMC carriers have no clinical manifestations. The chromosome origin and exact range of the aberration are very important, as well as the fact that sSMCs are often found in mosaics that can strongly influence both the phenotype and the interpretation of result. Prenatal sSMC finding is one of the most challenging situations in both clinical and laboratory genetics. This work deals with the investigation process of sSMC carriers using molecular cytogenetic techniques, especially fluorescence in situ hybridization (FISH). We investigated a total of 67 families collected both prospectively and retrospectively, and we found 70 unique sSMCs in a total of 74 individuals. Six cases were familial and in three cases two sSMCs were found in one individual. According to the initial karyotype finding, the cases were divided into two groups, sSMCs supernumerary to a normal karyotype (group A) and sSMCT s supernumerary to the Turner karyotype (group B). The chromosomal origin was successfully determined in 88,6 % sSMCs. In group A the most common findings were sSMCs derived from chromosome 15,...
Heteroploidy in bone marrow cells of children with acute lymphoblastic leukemia (ALL)
Matějčková, Nicole ; Zemanová, Zuzana (advisor) ; Krylov, Vladimír (referee)
Acute lymphoblastic leukemia is the most common type of cancer in children. It is a very heterogenous disease in which many recurrent chromosomal abnormalities have been described. The most important chromosomal abnormalities associated with a good prognosis are t(12;21)(p13;q22) which result in ETV6/RUNX1 fusion and hyperdiploidy. On the contrary findings suggesting a poor prognosis are t(9;22)(q34;q11) leading to fusion gene BCR/ABL1, MLL rearrangements or hypodiploidy. Heteroploidy is one of the most frequent findings in childhood ALL. It is characterised by nonrandom gain or loss of chromosomes from diploid cells. One of the most important findings in childhood ALL is hyperdiploidy where a non-random gain of chromosomes is present. Hyperdiploidy has a favorable prognosis and the impact of additional structural aberations requires further research. Another prognostically important group of heteroploidy is hypodiploidy. It is a quite rare finding and has a very poor outcome. There are non-random acquired chromosome losses observed in hypodiploid cells. Hypodiploid cell line may be masked with a doubled hyperdiploid clone which makes it difficult to identify. Proper and early cytogenetical analysis of heteroploid cells is very important as it contributes assigning correct diagnosis and risk stratification,...

National Repository of Grey Literature : 48 records found   1 - 10nextend  jump to record:
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13 ZEMANOVÁ, Zuzana
2 ZEMANOVÁ, Žaneta
13 Zemanová, Zuzana
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