Published online: 2018-04-16
DOI: 10.24075/brsmu.2018.009
Ichthyosis vulgaris (IV), a serious skin condition that runs in families, is actively studied worldwide. In this work we aimed to evaluate the prevalence of IV and frequency of two FLG mutations R501X and 2282del4 in the population of the Rostov region. Our genetic epidemiology study of hereditary monogenic disorders covered a total of 497,460 residents of 12 districts to identify 230 separate nosological entities. In the course of the analysis, we calculated the prevalence of IV per district and in the entire region and compared our findings with the results of earlier studies. The average prevalence of IV in the Rostov region was 1:5,025, which is consistent with the average prevalence of the disease across Russia (1:5,151). Tselinsky and Millerovsky districts demonstrated the highest prevalence rates (1:1,942 and 1:2,032, respectively). To evaluate the frequency of two FLG mutations R501X and 2282del4, we assayed the samples of 58 patients with IV and 127 healthy unelated controls by PCR followed by the restriction fragment length polymorphism analysis. In patients with IV, the frequency of the 2282del4 mutation was 48.28%, which is in line with European figures and also 30 times higher than in the controls (1.58%), suggesting the pathogenicity of the mutation. The R501X mutation was not identified both in patients with IV and healthy controls.
Published online: 2018-04-15
DOI: 10.24075/brsmu.2018.008
Poor diet, sedentary behavior and genetic background are major factors contributing to the etiology and pathogenesis of non-alcoholic fatty liver disease (NAFLD). It is hypothesized that polymorphisms of the TNFRI and TNFRII genes coding for the receptors that bind the proinflammatory cytokine tumor necrosis factor alpha (TNFα) can be implicated in the susceptibility to NAFLD, but not much data is available in the literature. In the present work we aimed to investigate a possible association between the rs767455 T>C TNFRSF1A and rs1061622 T>G TNFRSF1B polymorphisms and one of NAFLD forms, nonalcoholic steatohepatitis (NASH), and to assess their effect on blood biochemistry. Samples of DNA isolated from the venous blood of 151 healthy donors and 242 patients with NASH were genotyped using PCR-RFLP. TNFα concentrations were measured by ELISA. We have not found any association between the rs767455 T>C TNFRSF1A polymorphism and the development of NASH in the residents of Karelia. However, we have discovered an association between NASH and the T>G TNFRSF1B rs1061622 polymorphism. Carriers of the G allele have a higher risk of developing NASH (OR = 4.83; 95% CI: 2.72–8.57). The rs1061622 T>G genotype of the TNFRSF1B gene appears to have no effect on TNFα concentrations and the activity of alanineaminotransferase (ALT), aspartate aminotransferase (AST) and alkaline phosphatase (ALP). Our findings suggest a possible association between the rs1061622 T>G TNFRSF1B polymorphism and a risk of developing NASH in the residents of Karelia.
Published online: 2018-04-12
DOI: 10.24075/brsmu.2018.006
Being a relatively common chronic skin condition with understudied pathogenesis, nummular eczema captures attention of medical researchers. The aim of this wok was to describe clinical manifestations of the disease, revise criteria for its accurate diagnosis and understand the role of malfunctioning components of the adaptive and innate immunities in triggering the inflammatory response. Using high-sensitivity ELISA assays, we assessed the cytokine profiles, determined the levels of adhesion molecules and the affinity of serum antibodies in 51 patients with nummular eczema. The immune profiles of the patients were dominated by proinflammatory interleukins, being deficient in regulatory cytokines. The relative abundance of mononuclear CD50+ and CD54+ cells was increased. Natural antibacterial immunity was weakened by the production of lowaffinity serum antibodies. Based on our findings, we have established criteria for the differential diagnosis of nummular eczema and described a contribution of both regulatory and effector immunity components to the abnormal immune homeostasis. We conclude that the discovered defects of the humoral regulation and non-specific resistance in patients with nummular eczema are pathogenic and determine the course of the disease.


Published online: 2018-02-16
DOI: 10.24075/brsmu.2018.001
Recent studies of T-cell clonal repertoires of patients with ankylosing spondylitis (AS) have led to the discovery of AS-associated T-cell clones with a highly homologous T-cell receptor structure. The role of T-lymphocytes in the disease progression cannot be elucidated without analyzing the diversity and abundance of functionally different T-cell clones found in patients with AS. Using a state-of-the-art technique for T-cell repertoire profiling based on massively parallel sequencing, we, for the first time, studied the T-cell receptor repertoire of activated T-cells from the peripheral blood of a patient with AS. We have demonstrated that a subpopulation of CD38+HLA-DR+ T-lymphocytes is highly diverse both in terms of clonal diversity and abundance of the identified clonotypes, suggesting diverse antigen specificity of the activated peripheral blood T-cells. Most of the activated T-cell clonotypes had low abundance in total population of peripheral blood T-cells. In the repertoire of activated T-cells we have found the clonotype TRBV9_CASSVGVYSTDTQYF_TRBJ2-3, previously discovered in AS and reactive arthritis, and a few other clonotypes of cytotoxic and helper T-cells that may have a role in promoting inflammation in AS patients. Presence of the AS-associated clonotype in activated T-cell subset suggests that the T-cells might play an active role in ongoing inflammation during the disease progression. This provides rationale for further research of their antigen specificity and role in triggering or maintaining AS.
Dear researcher!
At the end of 2015, Bulletin of RSMU saw an important change in its typographic design and content. We formulated new editorial policies and established strict ethical standards for submitted manuscripts in accordance with the guidelines of reputable international bodies. As a result, about a quarter of the submitted works have been rejected, the primary reason being the author trying to submit a previously published article. Sometimes authors believe that by making slight changes to the introduction, excluding a few people from the study, performing a new statistical analysis, and thus obtaining totally new results they will turn their old manuscript into a novel work. That is why we would like to talk about scientific integrity, honesty, plagiarism, and self-plagiarism in our special project “Author’s work”.
Richard FEYNMAN Cargo cult science
American physicist Richard P. Feynman, a Nobel laureate, was always very scrupulous about the quality of a research study. During his commencement address at the California Institute of Technology in 1974, he talked about scientific integrity and honesty and warned young researchers “not to fool” themselves. A must-read for anyone who believes he/she is a true scientist.
Ivan PAVLOV On the Russian mind
In 1918, Russian physiologist Ivan Pavlov, a Nobel laureate, delivered two lectures: on the mind in general and the Russian mind in particular; on those mind qualities that determine the success of a research work and on how these qualities are present in the Russian mind. Pavlov's thoughts are an effective vaccine against poor intellectual work.
2018-01-25 OUR NEWS
Publishing fee

Since 2018 the journal "Bulletin of RSMU" publishes manuscripts in which financial support for the research is declared, on a fee basis. Regardless of the source of funding, the type of paper and the volume of the text, the publishing fee is 30 thousand rubles. We want to emphasize that we are not talking about advertising publications — we do not publish advertisements. At the same time we are sure that modern science develops much more effectively if access to new research data is free. The journal will continue to work in the open-access format.

2018-01-24 OUR NEWS
We use DOI!

DOI (Digital Object Identifier) is an important tool for organizing the storage of scientific texts. Assigning scientific books or publications with DOIs makes their search much easier for researchers around the world. "Bulletin of RSMU" gave DOIs to all papers published in both language versions of the journal in 2016–2017. We see the first results: regular reports from CrossRef (an international agency that organizes work with identifiers) show that some papers of the authors of the "Bulletin of RSMU" already has several tens of views thanks to DOIs.