Motivation. Our previous study showed differences in the atherosclerosis phenotype between Lithuanian and Swedish men that could be influenced by complementary factors, namely oxidation processes and/or oxidative stress. The goal of this study was to evaluate the mainstream biological pathways inducing and maintaining the atherosclerotic process by analyzing genetic biomarkers particularly in inflammatory and metabolic pathways where the main focus is laid on the oxidation process. Methods. There were 32 families recruited for the study and clinical as well as biochemical analyses were performed. For genetic analysis 150 SNPs in 89 genes were selected in order to construct a microarray based on Arrayed Primer Extension (APEX) genotyping technology. Genotyping was carried out in 28 families and transmission disequilibrium test (TDT), siblingTDT (STDT), and combined analysis were performed. Results. Clinical and biochemical analysis revealed that probands with premature CAD were more likely to have diabetes mellitus, arterial hypertension, dyslipidemia and were male with high body mass index. Genetic analysis showed six SNPs statistically significantly associated with the atherosclerosis phenotype in the candidate genes ITGA2, IL1B, ALOX5A, OR13G1, MMP9 and NFKB1. These genes belong to different biological pathways: trombocyte adhesion and vessel damage, inflammation response, cholesterol and lypoxygenase metabolic pathway and nutrition. Conclusions. Generalized clinical, biochemical, bioinformatical and candidate genes association results support our hypothesis and indicate that the oxidation process may be of key importance in the formation of atherosclerosis., Ingrida Pepalyte, Zita Aušrele Kučinskiene, Kristina Grigalioniene, Žaneta Petrulioniene, Vilma Dženkevičiute, Loreta Bagdonaite, Vaidutis Kučinskas, and Literatura
Vyšetření pomocí průtokové cytometrie (FC) je prováděno pouze u omezeného počtu osob s monoklonální gamapatií (MG), přestože v posledních letech bylo provedeno množství analýz prokazujících její prognostický význam. Hlavní uplatnění imunofenotypizace u MG je v rámci: 1. diferenciální diagnostiky, 2. stanovení rizika progrese u MGUS a asymptomatického MM (aMM), 3. analýzy prognostických markerů a 4. detekce minimální reziduální nemoci u pacientů s MM. Multiparametrická průtoková cytometrie by proto měla být zařazena mezi rutinní vyšetřovací metody u pacientů s monoklonálními gamapatiemi., Flow cytometry (FC) analysis is performed only in a limited number of subjects with monoclonal gammopathy (MG), although in recent years have been published a number of analysis showing its prognostic importance. Main applications of immunophenotypisation in MGs are (1) differential diagnosis, (2) determination the risk of progression in MGUS and asymptomatic MM (aMM), (3) analysis of prognostic markers, and (4) detection of minimal residual disease in patients with MM. Multiparameter flow cytometry then should be included as a routine assay in monoclonal gammopathy patients., Kovářová L., Hájek R, and Lit.: 34