ORIGINAL RESEARCH
We studied changes in the level of biochemical and general clinical indicators (thyroid-stimulating hormone, apolipoproteins, cortisol, serotonin, adrenaline, leukocytes, erythrocyte sedimentation rate) in children living under the adverse factors of the subarctic climate. These indicators prove the development of such negative effects as stress of thyroid function, the formation of an inflammatory process, the risk of early vascular disorders, the deterioration of endogenous vasomotor activity in myocardial tissues and neuro-endocrine regulation.
The association of SNV rs6280 of the DRD3 gene and rs9652490 of the LINGO1 gene with the development of drug (levodopa-induced) dyskinesia (LD) in patients with Parkinson's disease (PD) was studied. The obtained results of the pilot study indicate the absence of a predictive role of the carriage of SNV rs6280 of the DRD3 gene and rs9652490 of the LINGO1 gene on the development of LD in PD patients living in the Republic of Sakha (Yakutia). However, the authors do not exclude the influence of a small sample size on outcomes of the associative genetic study.
The article analyzes the outcomes of three field surveys concerning the seroepidemiology of various zoonoses in the Sakha Republic (Yakutia). These studies were carried out from 2007 to 2018 in Artic (Verkhoyansk area) and subarctic (Vilyuysk area then Central Yakutia) regions. The first major finding was the presence of Lyme borreliosis in both Vilyuysk and Verkhoyansk areas. Then an elevated incidence rate of Q fever was revealed in the Verkhoyansk area. The seroprevalence of toxocariasis and food-borne trichinellosis was remarkably low in the three surveyed places. Finally, the epidemiological status of echinococcoses, alveolar and cystic must be clarified in the course of further research on the etiology of these zoonoses, rather high seropositivity rates require further clinical and epidemiological studies of these parasitic infections in Yakutia.
A case-control study of obese and normal children as a control group was carried out that allowed to elucidate the influence of medical and social factors on the development of childhood obesity. The multivariate regression analysis identified the most significant risk factors for obesity in children: BMI of father and mother, time of watching TV per day and speed of food intake, with the further development of a formula for calculating the probability of obesity, which can be used when organizing a preventive program for obesity in children.
The analysis of the association of polymorphic variants of the genes IL12A (rs568408, rs2243115), IL12B (rs3212227), IL13 (rs20541), IL12RB2 (rs3762317) with the development of chronic obstructive pulmonary disease (COPD) was carried out as well as the influence of allelic variants of the studied candidate loci on the variability of indicators characterizing the progression of airway obstruction, the intensity and experience of smoking. An association of polymorphic variants of genes IL12A (rs568408, rs2243115) and IL13 (rs20541) with the development of COPD, indicators of respiratory function and smoking index was established. The data obtained confirm the assumption about the essential role of genes responsible for the synthesis of α- and β-subunits of IL12, structural α-helices of IL13 in the formation of a predisposition to COPD and the progression of the disease.
The search for associations of deletion polymorphisms of the enzyme glutathione-Stransferase GSTM1 and GSTT1 with the risk of developing lung cancer in the Yakut population was carried out. The analysis of polymorphic variants of specific regions of genes GSTM1, GSTT1 was carried out in the samples of patients with lung cancer and the control group. In the Yakut population, we did not find a statistically significant relationship between the null genotypes GSTT1 and GSTM1 and their combinations with the risk of developing lung cancer. It was established for the first time that the genotype GSTM1 * + / GSTT1 * 0 in the group of patients with non-small cell lung cancer in the Yakut population was found 3.7 times less frequently than in the control group.
The aim of the study is to identify the features of immune responses in autoimmune thyroiditis (AIT) in inhabitants of the northern region. It was found that with AIT the concentration of cytotoxic T-lymphocytes increases with low activity of natural killer cells and the phagocytic capacity of neutrophilic granulocytes. The development of cell-mediated cytotoxicity is formed at a low background level of activity of mature T-lymphocytes (CD3 +), natural killer cells (CD3 – CD16 + CD56 +), activated T-lymphocytes with a receptor to transferrin (CD71 +) and proliferative lymphocytes (CD10 +).
An analysis of the effect of HOXA10 and HOXA11 expression in the endometrial stroma of late reproductive women with tubal infertility factor on the outcomes of assisted reproductive technology (ART) programs was performed.
There was a tendency to a statistically significant decrease in the expression of HOXA11 in the endometrial stroma during effective attempts to treat infertility.
Using the ROC (Receiver operator characteristic) method of analysis and calculations of the area under the ROC curve (AUC), it was found out that favorable levels of HOXA11 expression for successful blastocyst implantation and live births in infertile women with their own and donor oocytes.
DIAGNOSTIC AND TREATMENT METHODS
The article presents a statistical analysis of data on the quantitative and qualitative composition of children after cochlear implantation, carried out in Otorhinolaryngology Department of Pediatric center of Republican Hospital No 1 of the National Medical Center in the period from 2017 to 2019. The results of hearing-speech rehabilitation were obtained according to the scale for assessing the prospects of using cochlear implantation in young children, and categories of hearing perception were determined.
The article discusses a clinical case of combined two-level spinal-epidural anesthesia (CDSEA) with fixation of an epidural catheter (EC) in the subcutaneous canal in a long-liver patient with a closed hip fracture. The use in a patient of a long-liver with a high anesthetic risk, with multiple comorbid pathology of local anesthesia in the form of СDSEA with a reliable method of EC fixation in the saphenous canal during surgery for a fracture of the proximal femur, as well as with subsequent long-term postoperative pain relief in the form of epidural analgesia, contributed to the successful the operation, the absence of complications in the postoperative period and early activation of the patient.
The duration of the presence of the drug in parenchyma of the organ, introduced into the edge of resection and fixed with a hemostatic suture was studied.
Transarterial injection of a contrast agent into the renal parenchyma and its subsequent fixation at the edge of resection with a hemostatic suture maintains a high concentration of the drug for a week after surgery. The presence of high concentrations of the targeted drug at the edge of the kidney resection in the early postoperative period will create an additional barrier of anti-contraction protection.
Ulcerative gastroduodenal bleeding remains an urgent problem in emergency surgery. This literature review presents modern data on gastroduodenal bleeding of ulcerative etiology. The review considers the issues of epidemiology and etiology, as well as diagnosis and treatment of ulcerative gastroduodenal bleeding.
HEALTH ORGANIZATION
The article analyzes the routing of patients with neurodegenerative diseases from medical establishments of the Ministry of Health of the Republic of Sakha (Yakutia) to the neurological department of the Center for Neurodegenerative Diseases of the clinic of the Yakutsk Scientific Center for Complex Medical Problems. A comparative analysis of directed and refined diagnoses was carried out. Diseases that cause difficulties in their diagnosis have been identified.
HEALTHY LIFESTYLE. PREVENTION
During the first 24 hrs of patient’s admission to ICU, it is essential to perform a negative outcome screening, which can be done using acute physiology severity scales - APACHE-II and SOFA. It is known that these scales do not include nutritional insufficiency assessment, which itself affects survivability of critically ill patients. The model that uses three scales: assessment of pathophysiological changes - APACHE-II, intensity of multiple organ failure – SOFA, and assessment of nutritional insufficiency risk - NRS-2002, reliably improves the accuracy of the negative outcome prognosis in an ICU patient compared to their individual application.
After a comprehensive examination of a sample of pregnant women with anemia and chronic pyelonephritis, the risk factors for belonging to groups with a high infectious risk in the first trimester were identified in this sample. The risk of reproductive losses is determined by angiopathy of uterine vessels, supplemented by a disruption of homeostasis and violation of the microbiome of the urogenital tract in the absence of pregravid recovery and prevention of placental insufficiency.
TOPICAL ISSUE
The article presents data on the study of the current situation of the incidence of malignant neoplasms in the population of the territories of the Republic of Sakha (Yakutia), assessments of its relationship with the amount of pollutant emissions and ethnicity. It was revealed that the age-standardized incidence rate of cancer of all localizations (C00-96) for the period 2010-2019 in the Republic of Sakha (Yakutia) is lower than in the whole of the Russian Federation, both in men and women, and has a similar growth trend. Higher average long-term incidence rates of cancer of all localizations (C00-96) were observed in men and women living in the city of republican significance Yakutsk and in the industrial zone, and the lowest in the agricultural zone. No statistically significant correlation was found between atmospheric pollution from stationary sources and the incidence of cancer, but a negative relationship with the number of indigenous people living in the municipality was revealed. It is assumed that the increase in the incidence of cancer is associated with an improvement in the early detection of cancer that is common for the Republic of Sakha (Yakutia) and the Russian Federation, as well as the variety of physical and chemical factors harmful to humans present in the territory of each municipality.
The analysis of the main symptoms of residents of the city of Yakutsk aged 20 to 72 years, who had a new coronavirus infection COVID-19 3, 6, 9, 12 months ago. According to the CT protocol from the anamnesis, the severity of the course of the disease has a direct relationship with age, BMI and gender. Almost half of the surveyed indicate health disorder after COVID-19. Fatigue was more frequently observed at patiemts with hypertension, chronic kidney disease, diabetes mellitus, chronic respiratory tract disease, and ischemic heart disease. With fatigue, the vital capacity of the lungs was lower by 16-17%, a significant decrease in the activity of the enzymes of energy metabolism lactate dehydrogenase and creatine kinase in men was revealed.
The article presents preliminary epidemiological data on coronavirus infection COVID-19 in children in the Republic of Sakha (Yakutia). We conducted a retrospective analysis of coronavirus infection in children who were hospitalized in the Clinical Hospital of Children's Infectious Diseases out in the period from March to December 2020. The highest risk group in terms of developing pneumonia are children 10-18 years old. Considering of the epidemic process and the peculiarities of the implementation of coronavirus infection, the alertness of pediatricians in the field should be formed.
The heart rate variability (HRV) changes in seriously ill COVID-19 patients depending on the severity of the disease were studied, as well as the prognostic role of ROC analysis in predicting the outcome of the pathological process was determined. It was found that in patients with moderate and severe COVID-19, the main indicators of HRV SDNN, SDSD, RMSSD, LF and MAD are significantly lower. By means of ROC analysis of HRV no significant predictors of favorable and fatal outcomes were found in patients with COVID-19.
ARCTIC MEDICINE
The search was carried out for a possible connection between the polymorphic marker A1166C of the AGTR1 gene (rs5186) and essential hypertension in the group of representatives of the indigenous ethnic groups of Yakutia (Yakuts, Chukchi, Yukaghirs, Evens). No association was found between the polymorphic marker A1166C of the gene AGTR1 (rs5186) and essential hypertension in the study population.
The article presents the findings devoted to the research on the influence of northern experience on the frequency of metabolic syndrome in migrants of the Far North after moving to new climatic and geographic living conditions. The highest frequency of metabolic syndrome among migrants was observed in the group with periods of residence in the Far North from 20 to 29 years. In all three groups of migrants, the three-component combination of metabolic syndrome was more common in comparison with other combinations. About a third of patients in all study groups had a combination of abdominal obesity, arterial hypertension and high levels of low-density lipoprotein cholesterol.
SCIENTIFIC REVIEWS AND LECTURES
Neurosteroids (or neuroactive steroids) are a class of endogenous compounds which are synthesized in nervous tissue or\and able to modulate the brain functional activity, the class also includes steroids from gonads or adrenals, which are capable of migrating through the blood brain barrier to achieve their biological targets. The second part of the review is focused on describing multiply features of synthesis, functioning of such neurosteroids as progesterone, allopregnanolone, dehydroepiandrosterone and dehydroepiandrosterone sulfate as well as their targets, synthesized analogs.
We studied the activity of 5'-nucleotidase in the placenta from women with reactivation of cytomegalovirus (CMV) infection in the third trimester of pregnancy and preeclampsia. An increase in the intensity of the histochemical reaction for 5'-nucleotidase in the villi syncytiotrophoblast was revealed in comparison with the control group (without reactivation), indicating an increase in the enzyme activity. In our opinion, the development of characteristic symptoms of preeclampsia in CMV infection during pregnancy could be facilitated by an increase in 5'-nucleotidase activity, which created a high level of adenosine.
The article presents modern data on the functional role of the transferrin receptor - TfR1. The information on the significance of this receptor in the functioning of various cells of the body is generalized, and the diverse role of this receptor depending on the type of cells and the stage of their activation is shown.
A low level of high density lipoproteins (HDLs) in blood plasma is considered to be an important risk factor for the development of atherosclerosis. The antiatherogenic function of HDLs is associated with their participation in the reverse transport of excess cholesterol from peripheral tissues to the liver. In addition, they have antioxidant, anti-inflammatory, antithrombotic and anti-infectious properties, which also contribute to their atheroprotective effect. Recent studies have shown that the structure and composition of HDLs can change under various pathological conditions, thus leading to the appearance of dysfunctional HDLs, which cannot perform protective functions in the body. This review is devoted to the analysis of modern approaches aimed both at increasing the level of HDLs in blood plasma and at maintaining and restoring their native functional properties.
POINT OF VIEW
The article examines the ethical principle - the ‘right not to know’, associated with DNA testing of diseases with late onset of development, based on the materials of foreign publications. For geneticists and doctors of the Republic of Sakha (Yakutia), this problem will require discussion and decision-making steps, since type I spinocerebellar ataxia as the hereditary late manifestation disease is widespread in the population, DNA testing of which has been used in practical medicine of the republic since the 2000s. Huntington's chorea is the most researched hereditary disease on bioethical issues. According to experts, it is necessary to update the recommended testing guidelines for Huntington's chorea in the context of the principle of ‘right not to know’ with a joint committee of geneticists, neurologists, and legal and ethical experts.
CLINICAL CASE
The article presents a clinical case of detecting gastric metaplasia of the esophageal mucosa in combination with anatomophysiological changes in the organs of the gastroduodenal zone in a young woman with no bad habits, hereditary burden and other risk factors for reflux disease.
Pronounced changes in the osteoarticular apparatus in combination with changes in the skin, muscles and disorders of the internal organs suggest that this patient may have connective tissue dysplasia.
The patient underwent the endoscopic ablation of pathologically altered esophageal mucosa, followed by the appointment of an esophageal protector in order to maintain stable remission.
The observation of ten patients aged from 6 months up to 14 years treated at the Children's Clinical Infectious Diseases Hospital in Yakutsk from September 2020 to March 2021 with the diagnosis U07.2 - Coronavirus infection caused by COVID-19, no virus identified, M30.3 Kawasaki -like syndrome was presented. Among the observed patients, there were no extremely severe ones requiring intensive care, but some children had severe heart damage. All patients were of Yakut nationality. In contrast to current literature data, we did not observe a significant violation of the blood coagulation system, in some patients thrombocytosis was noted. Subarachnoid hemorrhage in one patient was revealed.
The article represents a clinical case of Louis-Bar syndrome, which once again confirms that pediatricians should be alert to genetic disorders when revealing signs of immunodeficiency. Immunoassay examination is of extreme importance in early diagnosis of primary immunodeficiency and prompt appointment of substitution therapy.
The article presents the features of diagnostics and dynamic monitoring of a patient with Menkes disease, a rare disorder of copper metabolism caused by a mutation in the ATP7A gene. The data of scientific literature on the epidemiology, etiology, pathogenesis of this disease are analyzed, and the basic principles of therapy and the outcomes of the disease are considered.
ISSN 2312-1017 (Online)