ИММУНОГЕНЕТИЧЕСКИЕ АСПЕКТЫ РАННЕГО РЕВМАТОИДНОГО АРТРИТА

The study is aimed to investigate the distribution of alleles of HLA-DRB1 gene in patients with early rheumatoid arthritis and healthy individuals in Russian population, and evaluate their significance as molecular genetic markers of rheumatoid arthritis predisposition and protection. The association between alleles of HLA-DRB1 genes, antibodies to cyclic citrullinated peptides and IgM rheumatoid factor was also studied. Low and high resolution HLA-DRB1 genotyping were compared. In the cohort of patients with early rheumatoid arthritis, the alleles of HLA-DRB1 gene were found to be markers of rheumatoid arthritis protection/risk, especially in the homozygous state. They determined production of antibodies to cyclic citrullinated peptides but were not associated with rheumatoid factor IgM levels. These findings support different autoimmune mechanisms of rheumatoid arthritis pathogenesis. Изучено распределение аллелей гена HLA-DRB1 у больных ранним ревматоидным артритом и здоровых лиц контрольной группы российской популяции и оценена их значимость в качестве молекулярно-генетических маркеров предрасположенности и протекции ревматоидного артрита. Определена сила ассоциативной связи аллелей гена HLA-DRB1 с продукцией антител к циклическим цитруллинированным пептидам и ревматоидному фактору класса М. В исследовании проведено сравнение методов высоко- и низкоразрешающего генотипирования аллелей HLA-DRB1. У больных ранним ревматоидным артритом обнаружены аллели гена HLA-DRB1, являющиеся маркерами риска и протекции ревматоидного артрита, детерминирующие продукцию антител к циклическим цитруллинированным пептидам, но не ассоциированные с антителами класса M к ревматоидному фактору. Полученные данные могут свидетельствовать о различных аутоиммунных механизмах патогенеза ревматоидного артрита. 

The expression of calcification of heart valves in patients with rheumatoid arthritis and osteoarthritis according to echocardiography

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New catalytic process for a sustainable chemistry of cellulose production from wood biomass

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The prevalence and diagnosis of rare (orphan) diseases in pediatric population of the Russian Federation

Objective of the research: to determine the prevalence of various nosological forms of rare (orphan) diseases in pediatric population of the Russian Federation (RF) to expand and improve diagnostic resources. Materials and methods: the prevalence of individual nosological forms of life-threatening and chronic progressive rare diseases in pediatric populationwas calculated according to the regional segments of the Federal Register. The results of fetus ultrasound screening, samples for biochemical screening and coverage of children with neonatal screening in the Russian Federation are evaluated. Results: the study revealed an increase in the prevalence of rare diseases due to the majority of nosological forms without changing their structure. For many nosological forms, an increase in their prevalence was accompanied by a decrease in the proportion of children among all patients. A high coverage of pregnant women with ultrasound screening was revealed. The number of fetuses with identified congenital malformations did not exceed 2%. Disorders during biochemical screening tests were recorded in 3-5% of cases. Neonatal screening coverage was not more than 95%. In 2013-2018, 49, 9 million screening tests were performed and 7, 7 thousand newborns with congenital and hereditary diseases were identified. The necessity of including in the neonatal screening of orphan diseases in which the use of pathogenetic therapy is possible is substantiated. Conclusion: determining the prevalence of various nosological forms of orphan diseases is extremely important and necessary to expand and improve their diagnosis, which will increase the detection of this pathology. © 2020, Pediatria Ltd.. All rights reserved

Collinear cluster tripartition as a neutron source - Evaluation of the setup parameters

Forthcoming experiments aimed at studying the mechanism of collinear cluster tripartition are planning to be performed with the new facility. Charged products will be registered with the double arm time -of-flight spectrometer composed of mosaics of PIN -diodes and MCP (micro channel plates) based timing detectors. Several te ns of 3He-filled counters will be gathered round the 252Cf source. In order to choose an optimal configuration of the neutron detector and other parameters of the experiment special modeling has performed using both "neutron barrel" and known MCNP code. Th e first test run of the new facility is in progress also its "neutron skin" in under construction. © 2010 American Institute of Physics.Conference Pape

Pulse-height defect in single-crystal CVD diamond detectors

International audienceThe pulse-height versus deposited energy response of a single-crystal chemical vapor deposition (scCVD) diamond detector was measured for ions of Ti, Cu, Nb, Ag, Xe, Au, and of fission fragments of$^{252}$ Cf at different energies. For the fission fragments, data were also measured at different electric field strengths of the detector. Heavy ions have a significant pulse-height defect in CVD diamond material, which increases with increasing energy of the ions. It also depends on the electrical field strength applied at the detector. The measured pulse-height defects were explained in the framework of recombination models. Calibration methods known from silicon detectors were modified and applied. A comparison with data for the pulse-height defect in silicon detectors was performed