ORIGINAL RESEARCH
The article presents the results of frequency analysis in the nucleotide sequence of genes of the signal path Notch (DLL4 (rs35748882), HEY2 (rs61737181), JAG1 (rs1801140, rs1801139, rs45575136), NOTCH1 (rs61751542), NOTCH2 (rs3795666), NOTCH4 (rs8192576, rs8192579, rs8192585)) at patients with clear cell kidney cancer and healthy individuals from the population control. It was found that the frequency of detected changes in patients was on average higher than the general population values. The results of this study may indicate the contribution of the studied changes in the nucleotide sequence of genes of Notch signaling pathway to the pathogenesis of clear cell kidney cancer, as well as the possibility of their use while creating a panel of molecular markers for diagnosis and prognosis of the course of the disease.
The article presents the results of the examination of children with bronchial asthma associated with connective tissue dysplasia (CTD). Comparative analysis of BA clinical characteristics was described. The BA course associated with moderate and severe CTD is characterized by moderate forms and tendency to lower disease control, worse prognosis. Most children with BA in both groups had underweight. All children with BA associated with CTD had musculoskeletal pathology as well as other comorbid diseases. Significant risk factors have been identified, such as effect of parental smoking, presence of pets, and low rates of breastfeeding.
The article describes a study of patients with motor neuron disease (MND) and their families using the Hospital Anxiety and Depression Scale (HADS). The frequency and severity of anxiety and depression in patients with MND and their family members were studied.
The article presents the results of studies on the content of esterified polyunsaturated fatty acids (PUFA) in blood plasma in individuals with vibration disease (VD). It was found that the indices of docosahexaenoic acid (C22: 6ω3) were statistically much higher in the group of individuals with VD.
The aim of this work was to study the relationship between Pro12Ala polymorphisms of the PPARG gene and Gly482Ser of the PPARGC1A gene with metabolic syndrome in individuals with VD. The frequency of alleles and genotypes of these polymorphisms was studied in patients with VD and in the comparison group, and their role in the development of metabolic syndrome (MS) was assessed. It was found that the frequency of MS among individuals with Vibration disease was higher with the same distribution of alleles and genotypes of Pro12Ala polymorphisms of the PPARG gene and Gly482Ser of the PPARGC1A gene in the examined groups. The carriage of the ProPro genotype of the PPARG gene is associated with resistance to MS development in the comparison group. A significant effect of the Pro12Ala polymorphisms of the PPARG gene and Gly482Ser of the PPARGC1A gene on the formation of MS was not revealed in patients with vibration disease.
Point substitutions in genes MMP-2 c.-1306C> T (rs243865) and MMP-9 c.-1562C> T (rs3918242) were studied in people under the age of 60 living in the Primorsky Territory. It was found that differences between the shares of MMP-2 CC, CT, and TT genotypes in the groups of persons with AH and the control group were statistically insignificant (mid-p = 0.16), while for MMP-9 CC, CT, and TT genotypes, these differences were determined (α = 0.05). In the distribution of patients with hypertension, depending on the indicators of relative cardiovascular risk (CVR) in persons with hypertension under 40 in the group with CVR 2, a significant increase in the minor alleles of MMP-9 1562 C/T was found, compared with individuals with CVR 1. The presence of the T allele in MMP-9 gene c.-1562C> T (rs3918242) is associated with a higher risk of cardiovascular diseases in young people with hypertension. Thus, the definition of the abovementioned polymorphism is of particular importance for young patients.
DIAGNOSTIC AND TREATMENT METHODS
This article is devoted to the study of incidence rate of the course of acute kidney injury (AKI) in patients with ischemic heart disease (IHD) and concomitant metabolic syndrome (MS) in patients who underwent coronary artery bypass grafting off-pump on a beating heart. As a result of monitoring of the patients, it was reliably proved that patients with coronary artery disease and concomitant MS have a high risk of developing perioperative AKI, which can cause the patient’s longer stay on artificial lung ventilation and the higher risk of mortality.
The aim of the research was to study the system of hemostasis in blood and oral fluid in patients with chronic generalized parodontitis (CGP) of moderate gravity of young and middle age before and after standard treatment using the neurotropic drug ‘Cortexin’. The study included 60 patients aged 25-60 years, divided into 4 groups of 15 persons with moderate CGP and 15 healthy individuals aged 18-24 years forming the control group. The analysis shows the insufficient effectiveness of standard treatment in chronic generalized periodontitis of moderate gravity, and the inclusion of ‘Cortexin’ in therapy results in improved or normalized hemostasis.
The purpose: to assess the saturation of the surgical margin of the kidney resection with a chemotherapy drug in order to determine the effectiveness of targeted balloon chemoembolization during the resection of parenchymal organ for preventing tumor recurrence.
The data obtained clearly demonstrated the prolonged fixation of the marker in the tissues of the surgical edge of the resected organ. Transarterial balloon embolization with a targeted drug for resection of the parenchymal organ may be effective for preventing tumor recurrence due to the duration of high concentrations in the surgical margin.
Metabolic changes in children with liver pathology were studied from clinical and laboratory-instrumental positions. The aim of the study was to investigate biochemical and metabolic parameters in children and adolescents with obesity and liver pathology in the Republic of Sakha (Yakutia). According to ethnicity, it was found that liver damage prevailed in children of the Mongoloid race. Markers have been identified that allow identifying liver damage in children at an early stage.
The analysis of fifteen years of experience in the use of an integral scale for assessing the degree and nature of damage to the abdominal organs in peritonitis ‘Abdominal index’ in routine surgical practice of the multidisciplinary surgical hospital was conducted. The extensive use of these scale criteria in clinical practice in the hospitals has led to significant improvements in the results of treatment of patients with peritonitis. There has been a decrease in the number of post-operative complications and fatalities.
The results of our clinical experience of using the integral scale for assessing the degree and nature of damage to the abdominal organs in peritonitis allow us to recommend its widespread use in the practice of urgent clinics.
The main epidemiological indicators of the problem of recurrent uncomplicated vertebral fractures in somatically healthy children have been studied. In the overwhelming majority of clinical observations with repeated trauma, fractures of those thoracic and lumbar vertebrae not initially damaged were diagnosed. The average age of children with primary vertebral fractures was 7 years 7 months, the same children repeatedly injured the spine at average age of 11 years 3 months. In more than half of the clinical observations, the main mechanism of injury is a fall onto the buttocks from height of one's own height. More often than others, the bodies of ThV and ThVI vertebrae were damaged in the primary injury, while the body of ThIV vertebra was observed in the repeated injury.
HEALTHY LIFESTYLE. PREVENTION
The article presents the research of night sleep in overweight/obese high school students (15-17 years old) by means of the polysomnography aimed to identify features of its structure, cyclical and segmental organization. Young people with excess weight show statistically significant shortening of latent periods to sleep stages, more awake hours during the night, reduced sleep efficiency, low representation and sustainability of delta sleep and high rates of rapid sleep (mainly in the first cycles), compared with the controls. These specific sleep patterns in late adolescence with overweight/obesity can be considered to be initial changes in sleep homeostasis in endocrine pathology, as well as an adaptive mechanism to counteract disturbance of the psychological protection system in daily life of adolescents.
HYGIENE, SANITATION, EPIDEMIOLOGY AND MEDICAL ECOLOGY
The article presents the research of disparities in cervical cancer incidence (CCI) and mortality (CCM) in the period 2007 - 2019 among the republics of Altai (RA), Buryatia (RB), Tyva (RT), Khakassia (RKh), Sakha (Yakutia) (RSYa) and Russia as a whole. In this period the CCI incidence in the republics was much higher than in Russia as a whole, the highest CCI was in RT, while the lowest indices being in the RSYa. The higher incidence rate of CCI in the republics in 2019 as compared to 2007 exceeded the indices all over Russia. In this period CCM in the republics, except of RSYa, was also significantly higher than in Russia as a whole, and the highest CCM was in RB, while the lowest was in RSYa. CCM in 2019 compared to 2007 significantly increased in RT and decreased in RA. CCI and CCM have statistical relationship in RB. According to the results it is necessary to carry out vaccination against HPV in these republics first of all.
The experience of the immune and neurohumoral profile of oil production workers with autonomic dysfunction syndrome associated with polymorphism of candidate genes was studied. The established imbalance of immune (excess of apoptosis and phagocytosis), nervous (excess of dopamine) and metabolic (overexpression of homocysteine and excess of NO due to its unstable forms) regulation, which is realized against the background of polymorphism of genes of detoxification and metabolic enzymes - MTHFR (rs1801128), SULT128 ) and ApoE (rs429358), characterizes the experience of the immune and metabolomic profile of those working with autonomic dysfunction and the risk of atherosclerosis and hypertension.
The assessment of the level, seasonality and structure of mortality of the local population of Yakutia at the end of the 19th – beginning of the 20th centuries was carried out on the basis of the analysis of information from the birth registers of the Bilyuchanskaya Nikolaevskaya and Sheinskaya Georgievskaya churches of the Vilyui district. The scientific novelty of the work lies in the fact that such studies in Yakutia have never been carried out before.
As a result of the study, it was found that of the total number of deaths, the share of children under 5 years old was 41.7%, and this index corresponds to the official statistics of the beginning of the 20th century. In addition, it is shown that the data on infant mortality among the Yakut population, established during the work of the medical and sanitary detachment of the Yakut expedition of the USSR Academy of Sciences in 1925- 1926, are exaggerated due to the fact that this summary included data on the mortality of children under 5 years. In reality, this indicator was at the level of those in Germany (1910-1914) or Japan (1920-1922). For the first time, the data on the mortality of Yakut women in the pre-revolutionary period due to childbirth or postpartum complications were specified. A significant part of the population died from respiratory diseases, such as tuberculosis. In contrast to other regions of Russia, the peak of mortality of the population, regardless of age, fell on the spring, which was primarily due to the deterioration in the nutrition of the population at this time of the year. Presumably, the wide spread of diseases identified by the authors of the article as infectious diseases (typhus, scarlet fever, measles, smallpox, influenza, and others) could be hampered by the dispersed residence of the local population across the territory of parishes. In the general structure of mortality, mortality from external causes was insignificant. However, most of the deaths in this group were due to careless handling of fire and drowning.
TOPICAL ISSUE
The analysis of prevalence, morbidity, mortality and lethality from COVID-19 for the period from September 1, 2020 to January 4, 2021 was carried out. According to the data obtained, during the analyzed period (18 weeks), the prevalence and incidence rates of new coronavirus infection increased significantly. The highest prevalence of COVID-19 has been registered in the USA, Spain, France. The lowest prevalence and incidence rates for new coronavirus infection have been revealed in China and Thailand.
A review of the literature data on the epidemiological and clinical aspects of cardiovascular diseases in the new coronavirus infection is presented. Summarizing the results of studies by many authors, we state that the tropism of the new coronavirus infection to the cardiovascular system is manifested through ACE2 receptors, immune, cytokine inflammation, increased coagulation activity. These pathophysiological characteristics are especially manifested in concomitant cardiovascular pathology, leading to decompensation of the existing pathology and often death. Thus, cardiovascular disease is a dangerous risk factor for the development of fatal consequences in the current pandemic situation.
The assessment of changes in the level of cognitive functions in patients who underwent COVID-19 was carried out. The analysis of more than 30 modern scientific studies for 2019-2021 showed that patients who had the new coronavirus infection of varying severity, there are significant changes in the level of cognitive functioning in the form of a decrease in memory, executive functions, attention, etc.
ARCTIC MEDICINE
The article presents a network of medical and preventive institutions, data on medical and demographic indicators in the Arctic regions of the Republic of Sakha (Yakutia) for 2000-2018. The analysis is carried out in comparison with the national indicators. The main trends of changes in medical and demographic indicators in the Arctic regions of the Republic of Sakha (Yakutia) are identified. In conclusion there are reasonable proposals for the development of the concept of medical care for the population in the Arctic regions of the Republic of Sakha (Yakutia).
The study was performed to specify typological features of autonomic regulation of heart rate which is necessary for determining young athletes’ adaptive regulation capacities and choosing proper models of physical exercises that can keep health of younger generation. Moderate predominance of the autonomic type of regulation in the nervous system is accompanied by perfect functional responses to the active orthostatic test (AOT) and indicates the athletes’ good adaptive and regulatory capabilities. Moderate and pronounced predominance of the central type of regulation is considered an unfavorable indicator which demonstrates tension in regulatory systems and low functional capabilities of an organism under load. Pronounced autonomic reactivity in response to AOT requires dynamic monitoring of athletes to find out causes of the reaction since it may reflect prenosological conditions and adaptation failure.
The aim of the study was to study the relationship between the risk of developing CHD in children and some factors of the perinatal period, the state of health and ethnicity of parents. According to the data of the Perinatal Center of the Republican Hospital No. 1 – National Center of Medicine (PC of the Republic of Belarus No. 1-NCM) for the periods 2001-2003 and 2013-2015, the diagnosis of CHD was statistically significantly more common in children of parents of indigenous nationality. The presence of CHD in parents was associated with higher frequency of confirmed mal formations in children. There were no statistically significant relationships between the studied factors of the perinatal period and the frequency of CHD in children. Probably, genetic factors should be considered as one of the main reasons for the development of CHD in the population of Yakutia.
The comparison of psychological markers of depressive disorder in indigenous people and migrants in the polar regions of Yakutia is carried out. The study involved healthy students of the medical college in the village Khandyga of the Republic Sakha (Yakutia) and medical students who moved to Yakutia from the southern regions.
SCIENTIFIC REVIEWS AND LECTURES
This literature review presents current data on the influence of physiological factors such as cold, nutrition, and starvation, on the activation of brown adi-pose tissue in the adult body. Activation of this tissue stimulates human me-tabolism and may be a potential therapeutic way to fight obesity and related diseases.
This review summarizes the current understanding of FA-activated signal transduction systems in the placenta in the data PubMed, Google Scholar. Their effect on membrane and nuclear receptors, as well as their participation in the processes of decidualization and modulation of inflammation in the placenta, associated with G-protein-coupled receptors, have been shown. The effects of peroxisome proliferator-activated receptors mediated FAs in the placenta are described. Particular attention is paid to the Toll-mediated inflammatory signaling pathways of the FAs in the placenta. Research data on the effect of FAs on the expression of genes involved in placenta angiogenesis are summarized.
The role of polymorphic variants of leptin (LEP rs2167270) and leptin receptor (LEPR rs1137100) genes in the development of child obesity and eating behavior was estimated. There was no association with the development of obesity when comparing children's groups with each other. At the same time, the association of LEP (rs2167270) was established according to the following scales of the CEBQ questionnaire: “pleasure of eating, EF”, “slowness in eating, SE” and glucose level. For the rs1137100 locus of the LEPR gene, the associations are shown with such anthropometric parameters as birth weight, weight at present, Z-score, and percentile level.
This literature review looks at a new emerging field of radiomics, using prostate cancer as an example, to extract high-throughput data from quantitative image characteristics and then combine this information with clinical data, providing prognostic information only on the characteristics of images, and radiogenomics, which compares the obtained features of images with genomic data. The purpose of this review is to provide an update on the application of radiomics-based approaches and to discuss the potential role of radiogenomics in prostate cancer, which will further work out new biomarkers for diagnosis, prognosis and assessment of treatment response and to obtain positive treatment outcomes in patients with prostate cancer.
This literature review presents modern data on diagnostic methods using biological microchips in various fields of practical medicine. The use of the method based on DNA microarray technology for carrying out mass molecular genetic screening of heterozygous carriage of hereditary diseases has been considered.
The literature data on the historical stages of the treatment of postoperative sternomediastinitis were studied. At the initial stages, surgeons carried out open treatment of chest wounds, then treated with the flow-lavage system, with both methods accompanied by a high incidence of complications and mortality. Subsequently, specialists began to use actively the surgical method of treatment in combination with volumetric reconstructive operations as the wound was cleared, which contributed to a decrease in the mortality rate (from 50 to 5.1%) from such formidable complications of cardiac surgery as postoperative sternomediastinitis. However, the likelihood of complications of trans-sternal access and recurrence of infection persists regardless of the preventive measures taken during cardiac surgery, which indicates the expediency of active development of innovative approaches to the complex treatment of the pathology under consideration.
POINT OF VIEW
The aim of the study was to determine the effectiveness of personalized pharmacotherapy in patients with arterial hypertension with different characteristics of excitatory or inhibitory processes in the central nervous system. The results of the study determined the significant effectiveness of personalized pharmacotherapy of arterial hypertension, depending on the prevalence in the central nervous system of excitatory (correction of sympathicotonia with highly selective beta-blockers) and inhibitory processes (blockade of mineralocorticoid receptors with spironolactone/eplerenone) compared with the empirical treatment option.
CLINICAL CASE
Autoimmune hepatitis (AIH) is a chronic liver disease with different clinical phenotypes where autoimmune processes of violation of tolerance to the liver's own cells are of great significance. Some other autoimmune diseases such as systemic lupus erythematosus are also observed with AIH. Using the example of clinical observation, we present the features of AIH the background of SLE, challenges of the diagnosis and treatments as well. During the research we identified a relationship between two autoimmune diseases based on association of autoimmune disorders with major histocompatibility complex.
The clinical and genetic characteristics of a family with oculopharyngeal muscular dystrophy (OPMD) were studied in order to draw up a plan for management of such patients. Considering the course of the disease, characterized by the steady development of the disease, which leads to a decrease in the quality of life, patients with OPMD need to undergo courses of symptomatic therapy in a specialized neurological department, inform the population about the modes of transmission of the disease, prenatal diagnosis and adequate available interventions, about supportive care to reduce the risk of suffocation and other complications of OPMD.
ISSN 2312-1017 (Online)