Bulletin of RSMU

ISSN Print 2500–1094 ISSN Online 2542–1204

Bulletin of RSMU

BIOMEDICAL JOURNAL OF PIROGOV UNIVERSITY (MOSCOW, RUSSIA)

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Novikova EI, Kudinova EA, Bozhenko VK, Solodkiy VA

"Standard" diagnostic panels allow identification of only a few of BRCA1 and BRCA2 gene mutations most common in a population. Therefore, tests relying on such panels may return false negative results, since the coding regions of these genes may have other defects. For breast cancer (BC) patients, false negative test results may translate into selection of inadequate therapy by their doctors. This study aimed to identify the features of BRCA-associated breast cancer in the population of the Russian Federation. The study included breast cancer patients (n = 4440). At the first stage, all patients were screened for the eight most common BRCA1 and BRCA2 genes mutations with the help of real-time PCR. Next, patients that exhibited clinical signs of a hereditary disease (CSHD) in the absence of common mutations (n = 290) had the entire coding regions of BRCA1 and BRCA2 genes studied with next generation sequencing (NGS). "Standard" mutations in the BRCA1 and BRCA2 genes were identified in 169 (3.8%) cases. In the CSHD group, such mutations were revealed in 15.4% of cases. NGS uncovered 33 rare pathogenic BRCA1 and BRCA2 gene mutations in 40 out of 290 breast cancer patients (13.8%). It was concluded that among the residents of the Russian Federation, the range of pathogenic variants of BRCA-associated breast cancer is wide, and it stretches beyond the mutations considered by the "standard" diagnostic panels. Analysis of the entire coding regions of BRCA1 and BRCA2 genes allows increasing efficiency of detection of germline mutations in breast cancer patients at least twofold.

Received: 2021-01-02

Published online: 2021-02-22

DOI: 10.24075/brsmu.2021.006

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VIEWS 3458

Postnikov MA, Gabrielyan AG, Trunin DA, Kaganov OI, Kirillova VP, Khamadeeva AM, Osokin OV, Kopetskiy IS, Eremin DA

The search for and the application of available noninvasive methods for early diagnosis of oral mucosa (OM) neoplasia is a clinically significant problem. The aim of this study was to evaluate the effectiveness of the original score-based algorithm for assessing clinical data generated by a conventional and an autofluorescencebased examination in diagnosing OM cancer and assessing indications for a biopsy. We analyzed 134 medical histories and pathology reports of patients with oral neoplasia. The patients were assigned to 2 groups: the control group included 63 patients who underwent a standard visual and tactile examination with history taking and then were referred for an incisional biopsy followed by a histopathological examination of the specimens. In the main group consisting of 71 patients, a standard visual and tactile examination was complemented by an autofluorescence-based examination and the original score-based algorithm with the original index of required histopathological verification (RHV) were used to assess indications for a biopsy. In both groups, the most commonly affected site was the tongue (72.4%). The histopathological examination revealed that 28 patients from the main group and 14 patients from the control group had OM cancer (р = 0.051). Histologically, early-stage cancer was diagnosed in 17 patients from the main group and in 4 patients from the control group (р = 0.004). The proposed algorithm allowed us to effectively (in 90% of cases) diagnose precancer and cancer and avoid unnecessary biopsies.

Received: 2020-12-18

Published online: 2021-02-17

DOI: 10.24075/brsmu.2021.005

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VIEWS 3304

Oleynik AF, Revathy CG, Fazylov VH

COVID-19 is known to undertake a severe course in several groups of patients. The review presents the latest data on the main features of COVID-19 course in HIV patients. People living with HIV, have not been found to be at a higher risk for acquiring COVID-19 and the disease runs a similar course compared to the general population in HIV patients on continuous antiretroviral therapy (ART) with a suppressed viral load and CD4+-T-lymphocytes count > 200 cells/μl. Fewer than expected HIV patients have been reported to be hospitalised, this leads to hypothesize that infection may be majorly asymptomatic in this group of patients owing to their weak immune response. The patient’s use of ART might also explain the comparatively milder disease course of COVID-19 seen in patients with HIV/SARS-CoV-2 coinfection. While ART use cannot be considered to be a protective factor against contracting the SARS-CoV-2, researchers assume that the therapy could stabilize the immune response in coinfected patients and thus prevent progression of the disease to the severe forms.

Received: 2020-12-19

Published online: 2021-02-08

DOI: 10.24075/brsmu.2021.004

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VIEWS 4271

Osikov MV, Davydova EV, Abramov KS

Efferent physical therapy holds promise as an adjunct to the combination treatment of femoral fractures in young, working-age individuals. The aim of the study was to investigate the dynamics of bone turnover markers at different stages of femoral fracture consolidation in patients undergoing ozone therapy. The study enrolled 20 men (group 2, 47.8 ± 3.5 years) with a femoral shaft fracture (AO/ASIF 32А, 32В). The control group (group 1, 46.8 ± 3.7 years) comprised 10 healthy males. Subgroup 2a (n = 10) was assigned to receive standard therapy; subgroup 2b (n = 10) was assigned to receive standard therapy complemented by minor autohemotherapy (MAHT) at 20 mg/L ozone concentrations. On days 7, 30 and 90, fracture consolidation was assessed on the RUST scale and blood levels of С-terminal telopeptides of type I collagen (bCTx, pg/ml) and procollagen type I carboxy-terminal propeptide (PICP, ng/ml) were measured. On day 7, the total RUST score in subgroups 2a and 2b was 4 points; on day 30, it was 6.5 and 8.7 points, respectively, and on day 90, it reached 10 and 11.5 points, respectively. Bone mineral density was as high as 90% in the MAHT subgroup vs. 78% in subgroup 2а, indicating faster bone healing. On day 30, bCTx levels in subgroup 2b were higher than in subgroup 2a (2289.4 [2145.3; 2365.4] vs. 1894.6 [1745.3; 2098.2], respectively. On day 7, PICP was significantly elevated in subgroup 2b in comparison with subgroup 2a; its levels peaked on days 30 and 90 (day 30: 268.3 [231.2; 286.3] vs. 183.2 [174.6; 195.6]; day 90: 584.6 [512.3; 589.3] vs. 351.2 [312.3; 369.4]. Thus, MAHT produces a positive effect on the quality and intensity of bone healing in men with isolated closed femoral shaft fractures.

Received: 2020-12-29

Published online: 2021-02-02

DOI: 10.24075/brsmu.2021.003

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VIEWS 4285

Mishina ES, Zatolokina MA, Mnikhovich MV, Kharchenko VV

The inevitable outcome of skin injuries caused by a variety of external factors is the formation of a connective tissue scar. A scar can deform when exposed to stretching, pressure or repeat surgeries and undergo structural changes leading to its dehiscence. Scar dehiscence is a common problem seen in women with a past history of cesarean delivery. There have been comprehensive studies of uterine scars formed after the C-section, but the morphology of cutaneous C-section scars has not yet been investigated. The aim of this study was to look into the morphology of connective tissue scars in multiparas with a past history of cesarean delivery. Specimens of cutaneous scars were collected from 30 women after the C-section. Within one age group, fiber thickness was directly proportional to the number of previous deliveries. Comparison of different age groups with the same number of previous deliveries revealed the thinning of collagen fibers and the increased density of type III collagen fibers. The most pronounced changes were observed in women with a history of 3 or more deliveries. We hypothesize that a connective tissue scar undergoes structural transformation, becomes thinner, and its fibers dissociate due to repeated skin stretching, which might indirectly suggest the dehiscence of the postoperative scar.

Received: 2020-12-11

Published online: 2021-01-22

DOI: 10.24075/brsmu.2021.002

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VIEWS 3711

Olkova MV, Petrushenko VS, Ponomarev GYu

In the last decade the search for and annotation of human genome polymorphisms associated with phenotype have become particularly important concerning the opportunity of their use in medical and population genetics, pharmacogenomics and evolutionary biology. The study was aimed to calculate the frequencies and analyze the prevalence of 13 germline polymorphisms of two genes, ТР53 encoding the genome-keeper p53 protein and WRAP53 involved in regulation of p53 production, in 28 Russian populations. We obtained data on 9 exonic ТР53 variants (rs587781663, rs17882252, rs150293825, rs112431538, rs149633775, rs144340710, rs1042522, rs1800371, rs201753350), one intronic polymorphism (rs17881850), and three variants of WRAP53 (rs17880282, rs2287499, rs34067256). In the majority of populations the sample size was over 50 people (except five populations with 30–49 surveyed people). The alternative alleles’ population frequencies for studies genetic variants in most Russian populations were close to appropriate allele frequencies in European and Asian populations of similar origin taken from global databases. The exceptions were six populations ("Central Caucasus", "Dagestan", "northern Russians", "southeastern Russians", "Tatars" and "Transcaucasia") with increased alternative alleles’ population frequencies. All listed populations except the population of “southeastern Russians” are characterized by polymorphisms with high allele frequencies not satisfying the Hardy–Weinberg principle.

Received: 2020-11-26

Published online: 2021-01-12

DOI: 10.24075/brsmu.2021.001

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VIEWS 3601

Milushkina OYu, Markelova SV, Skoblina NA, Moiseev AB, Alsabunchi AA, Tatarinchik AA, Savchuk PO, Ievleva OV

The negative impact of the digital environment on the health of young people necessitates the search for new methods of hygienic education. This study aimed to test and assess the hygienic qualities of the practice designed to give students and schoolchildren the skills allowing safe use of electronic devices. The study involved 256 students, 200 senior schoolchildren, 400 teachers and 251 parent. The hygienic education practice relied on the healthy lifestyle materials published in scientific literature, as well as materials posted on the Internet resources of medical organizations professionally engaged in the area considered, as well as their groups in the social networks Odnoklassniki, VKontakte, Facebook, Instagram, etc. We observed physical development of the schoolchildren and students dynamically and polled schoolchildren, students, teachers, and parents. For statistical processing of the results, we used methods of descriptive statistics, Student's t-test, correlation, discriminant and cluster analysis, and calculated risks. As the most popular source of information about health maintenance, Internet scored as follows: among schoolchildren — 79.0%, students — 88.6%, parents — 64.9%, teachers — 50.4%. The tested hygienic education practice allowed for a reduction of the number of schoolchildren and students who did not have the skills to safely use electronic devices to 20 and 25%, respectively. The practice also taught the participants to reduce their daily smartphone use time, engage in physical activity more often, which ultimately increased the share of children whose physical development was normal (p ≤ 0.01), and helped to increase the duration of night sleep. The tested methods of education are not costly; they can be replicated in other regions and organizations.

Received: 2020-11-06

Published online: 2020-12-29

DOI: 10.24075/brsmu.2020.086

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VIEWS 3815

Fokin VF, Shabalina AA, Ponomareva NV, Medvedev RB, Lagoda OV, Tanashyan MM

Neuroimmune interactions represent a highly dynamic mechanism for the regulation of cognitive function in chronic cerebral ischemia (CCI). The aim of this study was to investigate changes in salivary proinflammatory cytokines IL1β and IL6 and anti-inflammatory IL10 in patients with CCI (mean age 65.4 ± 9.1 years) before and after cognitive tests. After cognitive tests, the levels of salivary IL1β and IL6 were significantly elevated by 101.6 ± 19.1 pg/ml (n = 74) and 32.8 ± 6.1 pg/ml (n = 74), respectively. Using one-way ANOVA ana non-parametric statistical methods, we were able to demonstrate associations between changes in salivary interleukins and cognitive performance. In the group of patients with a significant increase in IL1β, some cognitive parameters were lower than in the group with negative or zero dynamics of this cytokine: the patients made more mistakes in the subtraction test (F = 11.5; n = 63; p = 0.001) and performed worse in the Luria test (F = 6.8; n = 65; p = 0.01). For IL6, Spearman’s rank correlation coefficient for the number of mistakes in the subtraction test was positive and differed significantly from 0 (R = 0.26; n = 62; p = 0.042). The group with positive IL10 dynamics performed better in N-back test (F = 5.2; n = 67; p = 0.03) and made fewer mistakes in the subtraction test (F = 6.8; n = 63; p = 0.01) in comparison with patients who demonstrated negative IL10 dynamics. Good performance in other cognitive tests was not correlated with interleukin dynamics. The article also discusses possible mechanisms underlying interleukin effects on cognitive function in patients with CCI and applications of the obtained data.

Received: 2020-11-06

Published online: 2020-12-28

DOI: 10.24075/brsmu.2020.085

Comments 0

VIEWS 3417