Original research Breast cancer: analysis of driver somatic mutations detected by next-generation sequencing
Tsukanov KYu, Krasnenko AYu, Korostin DO, Churov AV, Stetsenko IF, Plotnikov NA, Zarubina SA, Belova VA, Kovyrshina AV, Vorotnikov IK, Mescheryakov AA, Ilinsky VV
Breast cancer (BC) is one of the most common malignancies. There is a need for novel approaches to screening for genetic mutations in patients with BC that will help to reduce high mortality rates caused by this disease and improve treatment outcomes. In this study we employed next generation sequencing to screen a few key genes associated with the risk of breast cancer for mutations. We also evaluated their pathogenicity using the previously proposed bioinformatics-based algorithm and analyzed the associations between some of the detected mutations and the clinical manifestations of the disease. Our study recruited 16 female patients with BC (mean age was 50.7 ± 11.3 years). A total of 58 mutations were detected in the oncogenes BRCA1, BRCA2, ATM, CDH1, CHEK2 and TP53. Bioinformatic analysis of the sequencing data revealed 14 mutations that affect the sequence of the encoded proteins. Most deleterious mutations were harbored by the genes BRCA1/2, ATM and TP53.
Received: 2017-12-12
Published online: 2018-01-23
DOI: 10.24075/brsmu.2017-06-09
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VIEWS 5006
Original research A few aspects of plastic surgeons’ performance
Manturova NE, Kochubey VV, Kochubey AV
In spite of accreditation programs, levels of professional skills vary among plastic surgeons: there are no requirements for the diversity and number of performed surgical interventions that a surgeon can specify in his/her portfolio. Rationale for elaborating such requirements can be explored by studying service reports of private medical practices certified to provide plastic surgery services to their in- and outpatients. In the course of out study we analyzed such reports using different statistical tools, including the variation coefficient, the Kolmogorov–Smironov, Mann–Whitney U and Kruskal–Wallis tests, and Spearman’s correlation coefficient. Differences were considered statistically significant at p < 0.05. Surgical interventions were divided into 9 categories: skin/soft tissue plasty, rhinoplasty, breast plasty, blepharoplasty, otoplasty, lip and palate repair, craniofacial plasty, repair of urogenital defects, and hand surgery. On average, each surgeon performed a total of 112.3 ± 326.4 surgeries (Мо = 1). About 30.4 % of surgeons performed 1 to 10 interventions a year. None of the surgeons performed all types of interventions and hand surgery. We found that the diversity and number of interventions performed by a surgeon does not depend on the qualification or academic title (r<sub>S</sub> = –0.8, р = 0.2 and r<sub>S</sub> = –0.2, р = 0.8, respectively). Skin/soft tissue repair accounted for 51.1 % of all services provided by private medical practices. The number of post-operative treatment services was 0.017 per surgery.
Received: 2017-11-28
Published online: 2018-01-22
DOI: 10.24075/brsmu.2017-06-08
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VIEWS 5111
Original research Developing an artificial intelligence-based system for medical prediction
Sakhibgareeva MV, Zaozersky AYu
Diagnostic accuracy remains one of the central problems of medical care. In this work we attempt to apply artificial intelligence to solve this challenge. We propose an approach to medical prediction based on the intelligent analysis of patients’ data from 200 different laboratory tests. The initial sample included 7, 918 cases falling into 4 nosological categories: D50 (iron deficiency anemia), E11 (non-insulin-dependent diabetes mellitus), E74 (other disorders of carbohydrate metabolism), and E78 (disorders of lipoprotein metabolism and other lipidemias), and was further divided into the training and testing datasets. Using gradient boosting, we constructed a machine learning model. The model demonstrated a recognition rate of 89 % (AUC-ROC) and a mean certainty in the diagnosis of 92 %. Our study proves feasibility of using machine learning in the analysis of this type of medical data. We are currently implementing a web-service for medical prediction as part of our Healthcare platform aiming at automation of clinical practice.
Received: 2017-11-23
Published online: 2018-01-22
DOI: 10.24075/brsmu.2017-06-07
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VIEWS 4882
Original research Workplace hygiene in correctional facilities: problems and solutions
Polunina NV, Timerzyanov MI, Milushkina OYu, Pivovarov YuP, Polunin VS, Al Sabunchi AA, Kozyreva FU, Korolik VV
The state takes the responsibility of protecting the life, health and working ability of inmates of penitentiary institutions. This study aimed to explore working conditions at a correctional facility located in Tatarstan. Among the most significant workplace hazards were high noise and vibration levels, poor lighting, exposure to increased concentrations of harmful substances in the air, physical distress, constrained posture, sensory stress, and monotonous work. Health evaluation of 5,009 incarcerated individuals exposed to poor working conditions revealed that they were more likely to develop work-related diseases than their counterparts who worked in the office. Among the former skin and subcutaneous tissue diseases, hearing impairment, respiratory conditions and cardiovascular disorders were 2.1, 1.7, 1.5 and 1.3 times more frequent, respectively. Our study revealed the lack of medical examinations on admission, as well as regular medical checkups, and the reluctance of the inmates to use personal protection at work. Based on the study results, adequate measures were taken to improve working conditions, raise awareness of hygiene problems among the inmates and initiate routine medical checkups. The number of incarcerated individuals working under bad conditions plunged from 68 % to 19 %. Also, up to 82 % of inmates started to use personal protection.
Received: 2017-09-24
Published online: 2018-01-22
DOI: 10.24075/brsmu.2017-06-06
Comments 0
VIEWS 5099
Original research Dependence of muscle strength on biological maturation rates and key variables of physical development in teenage boys
Milushkina OYu, Skoblina NA, Prusov PK, Bokareva NA, Tatarinchik AA, Kozyreva FU, Moiseev AB
Functional abilities of school-age children are affected by a variety of factors, including endogenous. Over the course of a few years, we studied physical development of 182 boys who underwent annual physical examination from the age of 11 to 17. We took basic anthropometric measurements, such as height and weight, tested hand muscle strength and assessed biological maturation and body build. Our study showed that muscle strength in school-age boys suffers a negative influence of such endogenous factors as delayed physical development, body mass deficit, short stature, and asthenic build. Excess weight and low skeletal weight also contribute to decreased muscle strength in teenage boys. Our results can be used to identify teenagers at risk who should be given special attention during PE classes at school or during training sessions before the GTO fitness test.
Received: 2017-10-23
Published online: 2018-01-22
DOI: 10.24075/brsmu.2017-06-05
Comments 0
VIEWS 5085
Original research Drug-free treatments of tension headaches in school-age children
Polunina VV, Sergeenko EYu, Yarustovskaya OV, Polunin VS
Nowadays headaches are common among teenagers and children. This study aimed to assess effectiveness of reflexology, kinesiology taping and myofascial trigger point therapy in children with tension headaches and to compare these treatments with traditional drug-based modalities. The study recruited 37 children (19 boys and 18 girls) aged 9 to 14 years. The main group (n = 25) received 2 series of reflexology treatments separated by a month interval, kinesiology taping and trigger point massage, which was also taught to the patients and their parents. The control group (n = 12) received Ibuprofen and Mydocalm (the daily doses did not exceed 30 mg/kg and 2–4 mg/kg, respectively). Treatment duration in both groups was 4 months. Treatment effectiveness was assessed based on the evolution of patients’ complaints and the impact of headache on children’s daily activities, using the visual analog pain scale and the HIT-6 method, respectively. Within a month, headaches became 1.2 times less frequent and the attacks became 1.2 times shorter in the control group, while in the main group headaches became 2.5 times less frequent and the attacks became twice as short as they had been before Headache intensity did not change significantly in the control group, while in the main group it decreased 1.5 times (p < 0.05). The number of controls who experienced a severe impact of headache on their daily activities decreased 1.2 times after the treatment, while the main group reported no such impact at all. In the main group the number of patients who experienced only a slight impact of headaches on their daily activities increased 4.7 times, from 12 % to 56 %. Our findings demonstrate that drug-free treatments for tension headaches are more effective than drug-based regimens. Moreover, children benefit from drug-free regimens as they are not exposed to the negative effects of analgesics and muscle relaxants.
Received: 2017-11-03
Published online: 2018-01-22
DOI: 10.24075/brsmu.2017-06-04
Comments 0
VIEWS 5011
Opinion Can sports be safe? Reality, concepts and regulations
Didur MD, Vykhodets IT, Khokhlina NK, Zhuravleva AI, Polyaev BA
A safe sport is a bit of an oxymoron: competition puts a severe strain on the vital systems of the organism that may be dangerous or uncontrollable, does not come in small doses and entails unpredictable results. Sports injury surveillance aims to estimate the impact of different factors that increase the risk of injuries and to elaborate wise and efficient measures to curb this risk. Accurate data on mortality rates in athletes help to improve approaches to health screening. Injury surveillance systems that also report injury-related deaths in athletes exist in many developed countries. This article talks about sports injuries in Russia and provides rationale for creating a nation-wide system of sports injury surveillance.
Received: 2017-11-16
Published online: 2018-01-22
DOI: 10.24075/brsmu.2017-06-03
Comments 0
VIEWS 4815
Original research An update on dehydration in athletes
Parastaev SA, Miroshnikova YuV, Pushkina TA, Kurashvili VA, Yashin TA, Vykhodets IT, Kupeev MV, Didur MD
Fluid and electrolyte imbalances can compromise physical performance of professional athletes. We have conducted a study to understand how aware athletes are of their hydration status and how they deal with dehydration. First, we surveyed 51 athletes (mean age of 20.4 years) specializing in different sports, including ice hockey, water polo, tennis and figure skating, using a questionnaire. Next, we analyzed the anonymized results of the laboratory tests run on the samples of 30 athletes specializing in futsal. We focused on hemotocrit and sodium levels and urine specific gravity as indirect indicators of hydration status. Survey results demonstrated that 86 % of the participants lacked knowledge of wise approaches to replenishing fluid or electrolytes after physical exercise, did not adequately control fluid intake and developed various degrees of dehydration. We noticed that awareness of hydration status negatively correlated with professional qualifications of the participants. Retrospective analysis of laboratory tests showed that hypohydration prevailed among high-class athletes: at least 73 % of them showed signs of dehydration. We emphasize the need for elaborating unified clinical recommendations on rehydration for Russian athletes that should be further approved by doctors and coaches.
Received: 2017-11-02
Published online: 2018-01-17
DOI: 10.24075/brsmu.2017-06-02
Comments 0
VIEWS 5326