74 research outputs found
Comparison of the development of Czech and world performances in the long jump
Název: Porovnání vývoje českých a světových výkonů ve skoku dalekém Cíle: Cílem této bakalářské práce je porovnání dat nejlepších dvaceti výsledků ve skoku dalekém z kalendářních roků 2010-2023 českých a světových atletů a atletek v kategoriích mužů, žen, juniorů, juniorek, dorostenců, dorostenek a u českých výkonů i žáků a žákyň. Druhým cílem je pak pozorování vývoje výkonů v jednotlivých kategoriích. Metody: Pro každý rok jsem pracoval s dvaceti nejlepšími výkony v daných kategoriích. Kvůli lepší přehlednosti a pro lehčí porovnávání výsledků jsem určil, že výkony budou rozděleny do těchto skupin: nejlepší výkon, průměr nejlepších tří, pěti, deseti, patnácti a dvaceti výkonů. Průměry jsem zjistil pomocí aritmetického průměru. Také jsem zařadil mediány a směrodatné odchylky jednotlivých skupin. Pro samotné porovnávání výkonů jednotlivých let jsem pracoval především se vzorkem širší špičky jednotlivých kategorií, tedy s průměrem dvaceti nejlepších výkonů daného roku. Výsledky: Výkony nejlepších českých skokanů a skokanek nedosahovaly takových hodnot, jako u světových dálkařů. V naprosté většině případů nestačily ani na to, aby byli konkurenceschopní světové širší špičce, tedy průměru dvaceti nejlepších skoků v dané kategorii a roce. Jediné tři výkony, které tato kritéria splňují jsou nejlepší...Title: Comparison of the development of Czech and world performances in the long jump Objectives: The aim of this bachelor's thesis is to compare the data of the top twenty long jump results from the calendar years 2010-2023 of Czech and international athletes in the categories of men, women, u20 of men and women, u18 of men and women, as well as in the categories of u16 men and women for Czech performances. The second goal is to observe the development of performances in the individual categories. Methods: For each year, I worked with the top twenty performances in the given categories. For better clarity and easier comparison of results, I determined that the performances would be divided into groups which are: the best performance, the average of the top three, five, ten, fifteen, and twenty performances. I calculated the averages using the arithmetic mean. I also included the medians and standard deviations of the individual groups. For the actual comparison of performances across different years, I primarily worked with a sample of the broader top performers in each category, specifically the average of the top twenty performances of the given year. Results: The performances of the best Czech male and female long jumpers did not reach the same levels as those of the world's top long jumpers....Department of Athletics and Outdoor SportsKatedra atletiky, sportů a pobytu v příroděFakulta tělesné výchovy a sportuFaculty of Physical Education and Spor
New biological and genetic classification and therapeutically relevant categories in childhood B-cell precursor acute lymphoblastic leukemia [version 1; referees: 3 approved]
Traditionally, genetic abnormalities detected by conventional karyotyping, fluorescence in situ hybridization, and polymerase chain reaction divided childhood B-cell precursor acute lymphoblastic leukemia (BCP-ALL) into well-established genetic subtypes. This genetic classification has been prognostically relevant and thus used for the risk stratification of therapy. Recently, the introduction of genome-wide approaches, including massive parallel sequencing methods (whole-genome, -exome, and -transcriptome sequencing), enabled extensive genomic studies which, together with gene expression profiling, largely expanded our understanding of leukemia pathogenesis and its heterogeneity. Novel BCP-ALL subtypes have been described. Exact identification of recurrent genetic alterations and their combinations facilitates more precise risk stratification of patients. Discovery of targetable lesions in subsets of patients enables the introduction of new treatment modalities into clinical practice and stimulates the transfer of modern methods from research laboratories to routine practice
Characterization of 46 patient-specific BCR-ABL1 fusions and detection of SNPs upstream and downstream the breakpoints in chronic myeloid leukemia using next generation sequencing
In chronic myeloid leukemia, the identification of individual BCR-ABL1 fusions is required for the development of personalized medicine approach for minimal residual disease monitoring at the DNA level. Next generation sequencing (NGS) of amplicons larger than 1000 bp simplified and accelerated a process of characterization of patient-specific BCR-ABL1 genomic fusions. NGS of large regions upstream and downstream the individual breakpoints in BCR and ABL1 genes, respectively, also provided information about the sequence variants such are single nucleotide polymorphisms
Prenatal origin of childhood AML occurs less frequently than in childhood ALL
Background While there is enough convincing evidence in childhood acute lymphoblastic leukemia (ALL), the data on the pre-natal origin in childhood acute myeloid leukemia (AML) are less comprehensive. Our study aimed to screen Guthrie cards (neonatal blood spots) of non-infant childhood AML and ALL patients for the presence of their respective leukemic markers. Methods We analysed Guthrie cards of 12 ALL patients aged 2–6 years using immunoglobulin (Ig) and T-cell receptor (TCR) gene rearrangements (n = 15) and/or intronic breakpoints of TEL/AML1 fusion gene (n = 3). In AML patients (n = 13, age 1–14 years) PML/RARalpha (n = 4), CBFbeta/MYH11 (n = 3), AML1/ETO (n = 2), MLL/AF6 (n = 1), MLL/AF9 (n = 1) and MLL/AF10 (n = 1) fusion genes and/or internal tandem duplication of FLT3 gene (FLT3/ITD) (n = 2) were used as clonotypic markers. Assay sensitivity determined using serial dilutions of patient DNA into the DNA of a healthy donor allowed us to detect the pre-leukemic clone in Guthrie card providing 1–3 positive cells were present in the neonatal blood spot. Results In 3 patients with ALL (25%) we reproducibly detected their leukemic markers (Ig/TCR n = 2; TEL/AML1 n = 1) in the Guthrie card. We did not find patient-specific molecular markers in any patient with AML. Conclusion In the largest cohort examined so far we used identical approach for the backtracking of non-infant childhood ALL and AML. Our data suggest that either the prenatal origin of AML is less frequent or the load of pre-leukemic cells is significantly lower at birth in AML compared to ALL cases
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Evaluation of TypeSeq, a Novel High-Throughput, Low-Cost, Next-Generation Sequencing-Based Assay for Detection of 51 Human Papillomavirus Genotypes.
BackgroundHuman papillomaviruses (HPV) cause over 500 000 cervical cancers each year, most of which occur in low-resource settings. Human papillomavirus genotyping is important to study natural history and vaccine efficacy. We evaluated TypeSeq, a novel, next-generation, sequencing-based assay that detects 51 HPV genotypes, in 2 large international epidemiologic studies.MethodsTypeSeq was evaluated in 2804 cervical specimens from the Study to Understand Cervical Cancer Endpoints and Early Determinants (SUCCEED) and in 2357 specimens from the Costa Rica Vaccine Trial (CVT). Positive agreement and risks of precancer for individual genotypes were calculated for TypeSeq in comparison to Linear Array (SUCCEED). In CVT, positive agreement and vaccine efficacy were calculated for TypeSeq and SPF10-LiPA.ResultsWe observed high overall and positive agreement for most genotypes between TypeSeq and Linear Array in SUCCEED and SPF10-LiPA in CVT. There was no significant difference in risk of precancer between TypeSeq and Linear Array in SUCCEED or in estimates of vaccine efficacy between TypeSeq and SPF10-LiPA in CVT.ConclusionsThe agreement of TypeSeq with Linear Array and SPF10-LiPA, 2 well established standards for HPV genotyping, demonstrates its high accuracy. TypeSeq provides high-throughput, affordable HPV genotyping for world-wide studies of cervical precancer risk and of HPV vaccine efficacy
Mercury deposition/accumulation rates in the vicinity of a lead smelter as recorded by a peat deposit
. Recent findings show that Hg records from peat tend to overestimate historical levels of Hg deposition. Therefore we used the mass loss compensation factor (MLCF) to normalize Hg accumulation rates. These corrected Hg accumulation rates were significantly lower (maximum 129 mg m À2 yr À1 ) and better corresponded to changes in historical smelter emissions, which were highest in the 1960s. The agreement between the corrected Hg accumulation rates in the uppermost peat sections (2-38 mg m À2 yr À1 ) and biomonitoring of atmospheric deposition by mosses in several recent years (4.7-34.4 mg m À2 yr À1 ) shows the usefulness of MLCF application on Hg accumulation in peat archives. However, the MLCF correction was unsuitable for Pb. The recent Pb deposition rates obtained by an independent biomonitoring study using mosses (0.5-127 mg m À2 yr À1 ) were better correlated with net Pb accumulation rates recorded in peat (7-145 mg m À2 yr À1 ) than with corrected rates obtained by the MLCF approach (1-28 mg m À2 yr À1 )
The MLL recombinome of acute leukemias in 2017
Chromosomal rearrangements of the human MLL/KMT2A gene are associated with infant, pediatric, adult and therapy-induced acute leukemias. Here we present the data obtained from 2345 acute leukemia patients. Genomic breakpoints within the MLL gene and the involved translocation partner genes (TPGs) were determined and 11 novel TPGs were identified. Thus, a total of 135 different MLL rearrangements have been identified so far, of which 94 TPGs are now characterized at the molecular level. In all, 35 out of these 94 TPGs occur recurrently, but only 9 specific gene fusions account for more than 90% of all illegitimate recombinations of the MLL gene. We observed an age-dependent breakpoint shift with breakpoints localizing within MLL intron 11 associated with acute lymphoblastic leukemia and younger patients, while breakpoints in MLL intron 9 predominate in AML or older patients. The molecular characterization of MLL breakpoints suggests different etiologies in the different age groups and allows the correlation of functional domains of the MLL gene with clinical outcome. This study provides a comprehensive analysis of the MLL recombinome in acute leukemia and demonstrates that the establishment of patient-specific chromosomal fusion sites allows the design of specific PCR primers for minimal residual disease analyses for all patients
Relapses and treatment-related events contributed equally to poor prognosis in children with ABL-class fusion positive B-cell acute lymphoblastic leukemia treated according to AIEOP-BFM protocols
ABL-class fusions other than BCR-ABL1 characterize around 2–3% of precursor B-cell acute lymphoblastic leukemia. Case series indicated that patients suffering from these subtypes have a dismal outcome and may benefit from the introduction of tyrosine kinase inhibitors. We analyzed clinical characteristics and outcome of 46 ABL-class fusion positive cases other than BCR-ABL1 treated according to AIEOP-BFM (Associazione Italiana di Ematologia-Oncologia Pediatrica-Berlin-Frankfurt-Münster) ALL 2000 and 2009 protocols; 13 of them received a tyrosine kinase inhibitor (TKI) during different phases of treatment. ABL-class fusion positive cases had a poor early treatment response: minimal residual disease levels of ≥5×10−4 were observed in 71.4% of patients after induction treatment and in 51.2% after consolidation phase. For the entire cohort of 46 cases, the 5-year probability of event-free survival was 49.1+8.9% and that of overall survival 69.6+7.8%; the cumulative incidence of relapse was 25.6+8.2% and treatment-related mortality (TRM) 20.8+6.8%. One out of 13 cases with TKI added to chemotherapy relapsed while eight of 33 cases without TKI treatment suffered from relapse, including six in 17 patients who had not received hematopoietic stem cell transplantation. Stem cell transplantation seems to be effective in preventing relapses (only three relapses in 25 patients), but was associated with a very high TRM (6 patients). These data indicate a major need for an early identification of ABL-class fusion positive acute lymphoblastic leukemia cases and to establish a properly designed, controlled study aimed at investigating the use of TKI, the appropriate chemotherapy backbone and the role of hematopoietic stem cell transplantation. (Registered at: clinicaltrials.gov identifier: NTC00430118, NCT00613457, NCT01117441)
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