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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Muzaffarova TA, Novikova OV, Sachkov IYu, Kipkeeva FM, Ginter EK, Karpukhin AV

Desmoid-type fibromatosis (DF) is a rare mesenchymal tumor occurring in only 2 to 4 people per 1,000,000 population a year. Desmoid tumors are either seen sporadically or in individuals with familial adenomatous polyposis (FAP). The etiology of sporadic DF is uncertain. The aim of this study was to estimate the potential significance of germline mutations in the АРС gene in patients with sporadic DF. АРС exons were amplified, studied using conformation sensitive gel electrophoresis and then Sanger-sequenced. The obtained data were processed in Statistica 10. Mutations were detected in 6 (12%) of 51 participants with sporadic DF. Those 6 patients shared a typical DF phenotype characterized by early age of onset (5.8 years on average, in contrast to the patients without APC mutations, who developed DF at 19 years of age; р = 0.02), severe clinical course, multifocal localization on the trunk, and poor prognosis. All of the detected APC mutations were localized to the 3'-end of the gene. For the purpose of comparison, we analyzed a sample of 12 patients with FAP-associated DF. Of those patients, 6 carried mutations in the APC gene. In the analyzed sample, the patients with FAP and the mutant APC gene developed DF at older age (35 years) than the patients with sporadic DF (p = 0.004) and their tumors were not multifocal. This means that sporadic and FAP-associated desmoids have different phenotypes in patients with APC mutations. Patients with sporadic tumors have mutations at the 3'-end of the АРС gene more often than individuals with FAP-associated DF. To our knowledge, this is the first study to characterize the subtype of sporadic desmoid fibromatosis phenotypically determined by germline mutations in the APC gene.

Received: 2019-06-25

Published online: 2019-07-18

DOI: 10.24075/brsmu.2019.045

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VIEWS 4472

Tynio YaYa, Morozova GV, Biryukova YuK, Trubnikova EV, Zylkova MV, Sivokhin DA, Ivanov KP, Pozdniakova NV, Kazakova EA, Mutnykh ES, Shevelev AB

Noninvasive stable isotope breath tests allow highly accurate and safe estimation of liver and biliary tract function. The aim of this study was to test 13С-labeled linoleic and linolenic acids intended for diagnostic use for acute and subchronic toxicity. The acids were synthesized using the patented method. A single intragastric administration of the tested compounds to experimental BALB/c mice and Wistar rats in the amounts exceeding clinical doses 500 to 2500-fold did not cause animal death. In the subchronic toxicity test, the rats received 5 to 25 times higher doses than recommended for clinical use in humans. In a 14-day follow-up period, no significant differences were observed between the main and the control groups in terms of weight, blood count (red blood cells, white blood cells, platelets), and blood biochemistry (hemoglobin, total protein, alkaline phosphatase, alanine aminotransferase, aspartate aminotransferase, lactate dehydrogenase, bilirubin). The studied compounds are safe at doses intended for oral administration and are recommended for further preclinical and clinical trials.

Received: 2019-06-24

Published online: 2019-06-30

DOI: 10.24075/brsmu.2019.044

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VIEWS 4711

Balanovsky OP, Kagazezheva ZhA, Olkova MV

DNA quantification is a routine yet important procedure that determines the efficacy of long-term sample storage and further manipulations with the sample. There are a few well-established methods for measuring DNA concentrations. However, it still not fully clear how concordant their results are. The aim of this work was to measure DNA concentrations in a set of samples using different quantification methods and to compare the obtained values. In 2 independent experiments, a total of 100 genomic DNA samples were analyzed using 3 different DNA quantification methods, including spectrophotometry (NanoDrop), fluorometry (Qubit) and real-time PCR (Quantifiler). The obtained relative concentrations demonstrated an excellent correlation (the correlation coefficients were as high as 0.98 to 0.99). However, the absolute concentrations showed a considerable variation and even a twofold difference. Spectrophotometry yielded the highest concentrations, whereas fluorometry yielded the lowest. The real-time PCR results were intermediate. The differences were more pronounced for the samples with low DNA concentrations. We recommend that such differences should be accounted for when estimating DNA concentrations using an arsenal of different quantification methods.

Received: 2019-06-21

Published online: 2019-06-30

DOI: 10.24075/brsmu.2019.043

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VIEWS 4740

Takhchidi KhP, Kachalina GF, Takhchidi NKh, Manoyan RA, Gliznitsa PV

The death of outer retinal layers occurring in retinitis pigmentosa causes severe visual impairment and often leads to total blindness. Inner retinal layers are spared, though, which provides a possibility of inducing visual perception by direct electrical stimulation of intact retinal cells. This article presents clinical outcomes of two patients who were the first in Russia to have received the Argus II Retinal Prosthesis System. Both implantations were successful. No complications were reported throughout the entire follow-up period. Upon completing 3 rehabilitation sessions, the patients were able to navigate indoors and outdoors, locate small high-contrast objects, discern contours of large objects and people’s silhouettes.

Received: 2019-06-04

Published online: 2019-06-26

DOI: 10.24075/brsmu.2019.042

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VIEWS 4856

Valyakh MA, Kats DV, Glazko NG, Baranov MV

Space medicine has long studied the impact of reduced gravity on the human body. Increasing complaints of insufficient visual acuity during and after space flights have been recently drawing a lot of attention to the effects of hypogravity on astronauts’ vision. Abnormally high intraocular pressure (IOP) is one of the most clinically important changes occurring during space missions. It is a serious condition that often causes irreversible damage to the optic nerve and blindness. The aim of this study was to explore the effect of reduced gravity on IOP. The study recruited 48 young healthy men with the mean age of 22 years, who formed 2 equally sized groups. In the experimental group, hypogravity was simulated by placing the subjects into the orthostatic position for 21 days. IOP was measured at 4 time points using a Maklakov tonometer. Z-approximation of the Wilcoxon T test was applied. The average increase in IOP in the experimental group was 3.42 ± 0.03 mmHg (р < 0.01). The changes were, however, transient, and IOP levels went back to normal right after the exposure to hypogravity conditions was terminated.

Received: 2019-06-03

Published online: 2019-06-19

DOI: 10.24075/brsmu.2019.041

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VIEWS 4566

Goltsov AYu, Mukosey IS, Kochetkova TO, Shubina J, Kuznetsova MV, Stupko OK, Barkov IYu, Rebrikov DV, Trofimov DYu

Timely detection of fetal aneuploidy is an important aspect of clinical practice. At present, analytical techniques involving high-throughput sequencing are on the rise. Noninvasive prenatal testing (NIPT) ensures reliable results as early as week 9–11 into pregnancy. This article describes a clinical case of NIPT application and further verification of its results. Using next-generation sequencing, the microarray analysis of cell-free DNA in the amniotic fluid and the cytogenetic analysis of fetal chromosomes, a high risk of chromosomal rearrangements was detected in the short arms of chromosomes 4 and 12. This prediction was verified by molecular karyotyping conducted in both parents. The mother was found to be a balanced carrier of translocations between chromosomes 4 and 12. This case demonstrates the advantages of a whole-genome approach to NIPT over targeted-based.

Received: 2019-05-24

Published online: 2019-06-15

DOI: 10.24075/brsmu.2019.040

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VIEWS 5215

Sashkina TI, Runova GS, Abdullaeva AI, Bozhedomov AYu, Saldusova IV, Zaychenko OV, Faskhutdinov DK, Sokolova SI

Generalized chronic periodontitis (GCP) is a widespread disease. It has a serious negative impact on the quality of a patient’s life, posing a challenge to dentists all over the world. At present, standard therapy regimens for GCP adopted in the Russian Federation do not account for the mucosal barrier state, which is determined by a number of various factors, including the levels of secretory immunoglobulin A (sIgA). In our study, we attempted to assess the functional state of the mucosal barrier in patients with GCP and to provide a rationale for using immunotherapy aimed at restoring the effective barrier function of the oral mucosa. SIgA concentrations, which served as an indicator of the mucosal barrier state, were measured with ELISA. We found that patients with GCP had significantly lower sIgA concentrations in the oral fluid in comparison with healthy individuals. Although therapeutic procedures did help to increase sIgA levels, they still were much lower after therapy than in healthy volunteers (54.6 ± 30.5 µg/ml vs 151.2 ± 105.2 µg/ml). Increased permeability of the mucosal barrier caused sIgA to leak into the peripheral blood serum, where its concentration grew from 0.21 ± 0.28 µg/ml to 0.35 ± 0.47 µg/ml during the treatment course, suggesting damage to the mucosal integrity. This fact needs to be accounted for when treating patients with GCP.

Received: 2019-05-19

Published online: 2019-06-15

DOI: 10.24075/brsmu.2019.039

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VIEWS 4811

Kostenko EV, Eneeva MA, Kravchenko VG

The efficacy of rehabilitation in post-TIA patients still remains a clinical challenge, considering the combined burden of the primary disease and comorbidities. The aim of this study was to provide a rationale for introducing psychological counseling into post-TIA rehabilitation programs after studying the presentations of cognitive and emotional impairments developed after this cerebrovascular event. We analyzed in- and outpatient medical records of 351 participants (the mean age was 58.6 ± 2.2 years) who had experienced a TIA. Data was collected from forms 0.25/y and 003/y, medical/social questionnaires and also included MMSE and HADS scores. We found that CI and MD ranked second after cardiovascular diseases among the comorbidities in post-TIA patients (186.8 cases per 100 patients). We conclude that rehabilitation of post-TIA patients should involve a multidisciplinary team of experts including a psychotherapist or a clinical psychologist who will provide psychological counselling.

Received: 2019-05-24

Published online: 2019-06-08

DOI: 10.24075/brsmu.2019.038

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VIEWS 4852