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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Shirshova AN, Shamovskaya DA, Boyarskikh UA, Apalko SV, Leskov LS, Sokolov AV, Kovalenko SA, Scherbak SG, Pikalov IV, Kel AE, Filipenko ML

Colorectal cancer (CRC) is one of the most common cancer types in the world. Timely diagnosis of CRC and adenomatous polyps aided by effective screening techniques can considerably reduce mortality from this disease. MicroRNAs constitute a new class of promising biomarkers for a range of human diseases including cancer. The following article assesses the diagnostic significance of miR-146a concentrations in the blood plasma of patients with colorectal cancer. The main group included patients with stages I to III colorectal cancer (n = 102); the control group comprised patients with chronic colitis, nonspecific ulcerative colitis and Crohn’s disease (n = 58) and healthy individuals (n = 42). MicroRNA levels were quantified by reverse- transcription real-time PCR, revealing significantly higher miR-146a concentrations in the samples of patients with CRC than in the controls (p < 0.0001). The optimal diagnostic sensitivity determined by ROC analysis was 47.3 %, specificity was 91.5 %, with AUC = 0.79 ± 0.018. Our findings demonstrate that the studied approach does not have sufficient specificity, but still suggest that miR-146a can be included into screening tests based on quantification of other microRNAs with improved specificity.

Received: 2017-08-25

Published online: 2017-10-29

DOI: 10.24075/brsmu.2017-04-05

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VIEWS 5910

Tyschik EA, Kometova VV, Rodionov VV, Rebrikov DV

The present study aims to estimate and compare the levels of cell-free circulating RNAs of three interleukins IL-6, IL-8, and IL-18 and three splice variants of the vascular endothelial growth factor (VEGF), namely 121, 165 and 189, in blood plasma of patients with stage I / II breast cancer and healthy controls. The study reveals that patients with breast cancer have significantly elevated levels of circulating VEGF121 and VEGF165 RNAs, so far unreported in the literature. We also confirm that levels of circulating IL-8 and IL-18 RNAs are considerably increased in breast cancer patients.

Received: 2017-08-15

Published online: 2017-10-29

DOI: 10.24075/brsmu.2017-04-04

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VIEWS 5703

Sokolova EA, Khlistun IV, Kushlinsky DN

There is evidence that size distribution of cell-free DNA (cfDNA) fragments can be diagnostically relevant. The present work describes a multiplex quantitative real-time polymerase chain reaction technique modified and validated by the authors to study the degree of cfDNA fragmentation in blood plasma. Based on the detection of Alu and hLINE-1 repeats, this technique employs fluorescent probes. We selected suitable primers and probes, optimized PCR conditions and estimated the dynamic range and sensitivity threshold of the assay. The modified PCR had a dynamic range of 6 logs, its efficiency being over 90 %. We demonstrated that cfDNA fragmentation index did not differ significantly between healthy women (n = 16) and women with stage III–IV ovarian cancer (n = 14). Therefore, further research on a larger sample is needed using electrophoretic cfDNA fractionation.

Received: 2017-08-25

Published online: 2017-10-29

DOI: 10.24075/brsmu.2017-04-03

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VIEWS 5927

Telysheva EN, Snigireva GP

Screening for cell-free DNA usually referred to as liquid biopsy holds great promise in cancer diagnosis and treatment. This article presents the results of the analysis of somatic tumor-specific mutations in circulating free DNA (cfDNA) isolated from the blood plasma of patients with stages I–IV colorectal cancer, based on the use of wild-type blocking allele-specific real-time polymerase chain reaction. This technique was specially designed for the analysis of biological specimens containing small amounts of mutant circulating tumor DNA. The study included 46 patients (18 female and 28 male participants) between 48 and 86 years of age (mean age was 67.1 ± 8.8 years). All patients underwent surgical treatment (radical surgery was performed on 85 % of the participants). Besides the molecular genetic analysis of cfDNA isolated from the blood plasma, standard histological staining was performed. Patients’ blood samples were collected before the surgery and on day 5 after it to test for KRAS and BRAF mutations. The applied PCR technique proved to be effective in detecting mutations in the RAS genes in stages II–IV of the disease, its sensitivity threshold being 0.1 %. Analysis of cfDNA before and after surgery may provide additional information on the surgical treatment outcome, development of new metastases, or presence of those previously overlooked. Wild-type blocking allele-specific real-time PCR is awaiting further validation in different clinical situations.

Received: 2017-08-08

Published online: 2017-10-29

DOI: 10.24075/brsmu.2017-04-02

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VIEWS 5452

Filipenko ML

Cell-free DNA (cfDNA) was discovered in human blood plasma as early as the middle of the 20th century, but it was not until a few decades ago that knowledge of human genome and epigenome in health and pathology became sufficient and methods of nucleic acid analysis became more advanced to encourage active research of the diagnostic potential of cfDNA. The use of cfDNA as a diagnostic biomarker is conventionally referred to as liquid biopsy. The following review tells a story of cfDNA discovery, summarizes contemporary views on cfDNA sources inside the body and touches upon possible prognostic and diagnostic applications of cfDNA analysis in medicine, specifically in cancer and prenatal screening, prediction of implant failure and sepsis development.

Received: 2017-08-25

Published online: 2017-10-29

DOI: 10.24075/brsmu.2017-04-01

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VIEWS 6142

Ryzhkin SA, Margulis AB, Kurinenko BM

Medical or occupational exposure of patients and healthcare personnel to ionizing radiation (IR) can be a cause of genetic disorders. In this article we discuss the efficiency of the following tests used to comprehensively assess the effects of ionizing radiation on the genetic apparatus of a cell: the Ames test, the micronucleus test and the FISH method. We provide examples of their use, outline their advantages and drawbacks, estimate the possibility of designing more advanced test systems and discuss requirements for their implementation.

Received: 2017-04-10

Published online: 2017-07-20

DOI: 10.24075/brsmu.2017-03-10

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VIEWS 5951

Chernov DN

Understanding the role of the environment in the dynamics of gene-environment interactions shaping psychological traits of the child is one of the central issues of contemporary psychogenetics. The socioeconomic status of the parents (education in particular) is a critical factor regulating the share of environmental and genetic influences on the child’s cognitive abilities. This work is a study of phenotypic associations between the results of the subtests of the Heidelberg Speech Development Test designed to measure children’s speech and language competence, by computing genotypic and environmental correlations between its components. Children were divided into groups based on the educational level of their mothers (medium and high); each group was analyzed separately. For our analysis we used the twin method: the group of twins born to mothers with medium-level education included 17 monozygotic and 11 dizygotic twin pairs; the group of children born to highly educated mothers was comprised of 17 monozygotic and 22 dizygotic twin pairs. All children were aged from 7 years to 8 years and 11 months. Family report forms revealed an association between maternal education and individualized approach to the upbringing of each of the twins. It was shown that in families with highly educated mothers, differences in the upbringing strategies improve the development of language and speech competencies of the child, strengthen the relationship between various language competencies, increase the contribution of the genotype to and decrease the role of the general family environment in this relationship.

Received: 2017-04-14

Published online: 2017-07-20

DOI: 10.24075/brsmu.2017-03-09

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VIEWS 6072

Sergeenko EYu, Volovets SA, Darinskaya LYu, Zhitareva IV, Zhuravleva AI, Butorina AV, Yashinina YuA, Volkova OV

State-of-the-art rehabilitation equipment offers a wide range of static and dynamic exercise programs for fall prevention by improving balance control during standing or walking. Our study aimed to provide a rationale for the use of the BalanceTutor rehabilitation treadmill to improve static and dynamic balance in patients who had suffered an acute cerebrovascular accident. The study included 72 patients with postural balance impairments in their late recovery period. In the experimental group, center of pressure (COP) sway area and COP velocity decreased significantly, measured with patients’ eyes opened (р = 0.0476 and р = 0.0176, respectively) and closed (р = 0.0072 and р = 0.0037, respectively). At the end of the rehabilitation program, we observed a statistically significant increase in the electromyographic signal amplitude on the stroke-affected side of the body in m. peroneus longus (р = 0.0117), consistent with the regained muscle strength in the lower extremities of the affected body side measured by McPeak and Veyss 6-point scales. Tinetti gait and balance scores also improved (р = 0.0513 and р = 0.0274, respectively). Thus, the use of the BalanceTutor treadmill in the rehabilitation of poststroke patients proves to be effective and reasonable.

Received: 2017-06-22

Published online: 2017-07-20

DOI: 10.24075/brsmu.2017-03-08

Comments 0

VIEWS 6484