Challenges of Clinical Decision Support System Development

One of the high-growing areas in medicine is research and development of advanced IT technologies for clinical decision support. Clinical decision support system (CDSS) must be able to store the necessary clinical data and also to analyze this data, and process and interpret the results for a specialist. This article is focused on interdisciplinary research and development challenges in developing a complex information system for searching and selecting a suitable donor for bone marrow transplantation using an advanced DNA-based donor search model. The particular challenges are summarized and the approaches to tackle them are described

Common, Intermediate and Well-Documented HLA Alleles in World Populations: CIWD Version 3.0.0

A catalog of common, intermediate and well-documented (CIWD) HLA-A, -B, -C, -DRB1, -DRB3, -DRB4, -DRB5, -DQB1 and -DPB1 alleles has been compiled from over 8 million individuals using data from 20 unrelated hematopoietic stem cell volunteer donor registries. Individuals are divided into seven geographic/ancestral/ethnic groups and data are summarized for each group and for the total population. P (two-field) and G group assignments are divided into one of four frequency categories: common (≥1 in 10 000), intermediate (≥1 in 100 000), well-documented (≥5 occurrences) or not-CIWD. Overall 26% of alleles in IPD-IMGT/HLA version 3.31.0 at P group resolution fall into the three CIWD categories. The two-field catalog includes 18% (n = 545) common, 17% (n = 513) intermediate, and 65% (n = 1997) well-documented alleles. Full-field allele frequency data are provided but are limited in value by the variations in resolution used by the registries. A recommended CIWD list is based on the most frequent category in the total or any of the seven geographic/ancestral/ethnic groups. Data are also provided so users can compile a catalog specific to the population groups that they serve. Comparisons are made to three previous CWD reports representing more limited population groups. This catalog, CIWD version 3.0.0, is a step closer to the collection of global HLA frequencies and to a clearer view of HLA diversity in the human population as a whole

Experimental Measurement And Evaluation Methods Focused on Error Analysis in Neurodegenerative Diseases Research

Tématem práce je analýza užívaných metodik měření a metod vyhodnocení, analýza chyb těchto metod, návrh metod nových, které lépe popisují proces učení a způsoby eliminace určených chyb. Analýzy jsou zaměřeny na experimenty motorického a prostorového učení inbredních myší v souvislosti s výzkumem neurodegenerativních chorob. V práci jsou uvedeny nedostatky měření a standardních metod vyhodnocení, možnosti využití nevyužívaných metod biologické statistiky, využití klasifikačního kritéria a jsou navrženy nové metody vyhodnocení s využitím aproximací normálním, Weibullovým a Coxovo fázovým rozdělením. Současně s metodami je určen vliv nevyužití apriori informace, provedena citlivostní analýza na množství dat a určeny chyby jednotlivých metod a měření. Závěrem je pro odborníky sestaven doporučený způsob vyhodnocování experimentů a popisu procesu učení ve variantách s minimálním a se zásadním zásahem do jimi užívaných standardních metod.Katedra kybernetikyObhájenoThe thesis topic is the analysis of commonly used measurement and evaluation methods, error analysis of these methods, and the design of new methods for learning process description and elimination of identified errors. The analyses focuses on motor and spatial learning experiments of inbred mice in association with neurodegenerative diseases research. Inadequacies of standard measurement and evaluation methods as well as usefulness of overlooked methods from biological statistics and classification criteria are presented. New evaluation methods are designed based on approximations using either the normal, Weibull or Cox phase distribution. Together with the evaluation methods, the influence of non-use of a priori information is determined, sensitivity analysis with respect to the size of the data set is performed and errors of the methods and measurement are identified. The primary outcomes are protocols for the evaluation of experiments and learning process descriptions that bare either fundamental or minimal diferences from standard solutions

Recruitment of hematopoietic stem cell donors to the Czech National Marrow Donors Registry in 2013 - 2017 (demographic data)

Cílem práce je zhodnocení kvantitativních i kvalitativních parametrů náboru ČNRDD v letech 2013–2017 a analýza, jak dalece ovlivňují dále činnost registru restriktivní kritéria a celková strategie náboru.The aim of the paper is to evaluate the quantitative and qualitative parameters of the CNMDR recruitment in 2013–2017 and to analyze how far the restrictive criteria and the overall recruitment strategy influence the activity of the registry

Přístup pro zpracování genomických dat sekvenovanýh Sanger metodou

MZ ČR - AZV NV18-03-027

Přístup pro zpracování genomických dat sekvenovanýh Sanger metodou

MZ ČR - AZV NV18-03-027

Single-Nucleotide Polymorphisms in MICA and MICB Genes Could Play a Role in the Outcome in AML Patients after HSCT

NKG2D and its ligands, MICA and MICB, are known as the key regulators of NK cells. NK cells are the first reconstituted cells after the allogeneic hematopoietic stem cell transplantation (HSCT); therefore, it is crucial to understand their role in HSCT outcome. In the presented study, we investigated the single amino acid changes across the exons 2–4 of MICA and MICB genes, and point mutations within the NKG2D gene, which defines the type of NKG2D haploblock (HNK/LNK) in the donors (n = 124), as well as in patients with acute myeloid leukemia (n = 78). In our cohort, we found that graft from a donor with at least one MICA allele containing glycine at position 14 (MICA-14Gly) is significantly associated with deterioration of a patient’s overall survival (OS) (p < 0.05). We also observed a negative effect of MICB-58 (Lys → Glu) polymorphism on relapse-free survival (RFS), although it was not statistically significant in multivariate analysis (p = 0.069). To our knowledge, this is the first work describing the role of MICA-14 and MICB-58 polymorphisms on HSCT outcome