The article presents the results of a clinical and genetic study of a Yakut family with hereditary spastic paraplegia (HSP). Patients with clinically diagnosed HSP and healthy family members were studied. The disease is clinically characterized as a progressive spastic paraplegia of the lower extremities concomitant peripheral neuropathy in advanced case. The methods of exome sequencing of the entire genome, molecular modeling of dynamin-2 and experimental reproduction of key elements of the HSP pathogenesis have been applied. Genetic analysis revealed a novel missense c.2155C> T, p.R719W mutation in the highly conserved GTP-effector domain of the dynamin-2 gene (DNM2). In experiments on HeLa cells, it was shown that mutant dynamin-2 affected endocytosis process. In-silico modeling determined that the identified mutation is located in the DNM2 bundle-signaling element and potentially disrupts the assembly and functional properties of the protein. Testing of this mutation in other Yakut families with HSP showed a negative result, which once again confirms the genetic heterogeneity of this pathology.

The prevalence of nucleotide sequence variants of genes collagen COL1A1 rs1800012 IVS1 c.2046 G> T, and receptors of calcitonin CALCR rs1801197 c.1377 T> C and the intracellular vitamin D VDR rs731236 c.1056 T> C in healthy teenagers of the Primorsky Territory was studied in correlation with physiological parameters of the musculoskeletal system status. Genetic testing made it possible to identify the prevalence of “unfavorable” alleles and their combinations in the studied genes, regulating calcium metabolism in teenagers, and to determine the relationship between genotypes and the presence of fractures and impaired posture, that allowed distinguishing a group of subjects with a high risk of developing MSS diseases.

The article presents the research aimed at the content of serotonin neuro mediator in mentally retarded boys (7 to 11 years). It regulates many physiological functions and also the processes of learning, memory, other cognitive processes, which are very important for early schoolchildren. In the early schoolchildren with mental retardation from all the groups we determined statistically meaningful (p<0.001) decrease of serotonin content in blood lymphocytes as compared to control groups disregard upbringing conditions and the stage of severity, that can be regarded as typical feature for mentally retarded children.

The study was conducted with aim to assess the effect of clinical and laboratory parameters and JAK2V617F mutation on the incidence of thrombotic complications in patients with classical Ph-negative chronic myeloproliferative diseases. JAK2V617F mutation was detected in patients with polycythemia vera, essential thrombocythemia and patients with primary myelofibrosis. Thrombotic complications were significantly more often observed in carriers of the JAK2V617F mutation and in patients with cardiovascular risk factors.

The initial symptoms and premorbid features of children with spinal muscular atrophies (SMA) types II and III were under study. In studying the anamnesis of life and disease, attention was paid to premorbid features in the clinical and neurological status of early childhood. The concomitant neurological symptoms were studied. Careful assessment of family history, clarification of manifestations, rate of progression and interpretation of motor disorders in the debut of the disease are leading factors in early clinical diagnosis of SMA, that allow consider the further development of motor symptoms and complications that aggravate condition of a sick child and affect the vital prognosis.

A retrospective analysis of the results of complex treatment of patients mechanical icterus (MI) of neoplastic genesis was done. It was revealed, that the use of antegrade percutaneous drainage for the purpose of biliary decompression with the proper technical level and adequate preoperative preparation is accompanied by a relatively low percentage of complications and mortality. The clinical experience we have presented of using two-stage surgical treatment tactics for MI of neoplastic genesis allows us to recommend its widespread use in the practice of urgent surgical clinics.

At present, there are five types of myocardial infarction, depending on the mechanism of disease development, which is consistent with the IV universal definition of myocardial infarction (MI). This article provides a clinical anatomical analysis of 90 cases of various types of MI. Diagnostic features and the incidence of myocardial infarction were evaluated from a clinical and pathological point of view.

Female patients with histologically verified breast cancer, including newly diagnosed breast cancer and with a history of 3-17 years were under study. In the clinical picture of the examined patients, depressive, anxious-phobic and psycho-somatic disorders were identified, which significantly reduced their quality of life and adversely affected the prognosis and survival of patients. Conducting specialized pharmacotherapy with the use of antidepressants in combination with benzodiazepine drugs and hypnotics in breast cancer patients revealed high efficacy of the combination therapy.

A controlled open randomized study of the parameters of biochemical and antioxidant status in ovarian cancer patients was conducted. It was established that the administration of chemotherapeutic drugs contributes to a reliable increase of plasma levels of alanine aminotransferase, aspartate aminotransferase, alkaline phosphatase, lipid hydroperoxides, diene conjugates, malondialdehyde. Analysis of the influence of chemotherapy on the activity of antioxidant system components also showed a decrease in the content of ceruloplasmine and vitamin E. Thus, the inclusion of antioxidants in the treatment scheme of ovarian cancer patients should be considered pathogenetically justified, clinically reasonable and promising.

Cerebral amyloid angiopathy (CAA) is a disease of the small cerebral vessels and it mostly affects older people. CAA is characterized by progressive deposition of amyloid-beta in small arteries and arteries of medium caliber, as well as in the capillaries. Sporadic amyloid angiopathy is a cause of recurrent cerebral hemorrhage and cognitive impairment in the elderly. The latest scientific researches and a case report of a patient who suffered from cerebral amyloid angiopathy were used in order to prepare this article. The diagnosis and treatment of CAA are considered.

The results of the analysis of statistical connection between annual (from 2007 to 2018) values of age- standardized death rates (ASD) from cervical cancer (CC) and demographic indicators - number and density of population, location of population on the "city-rural" principle, among the population of the republics - Altai, Buryatia, Tyva, Khakassia and Sakha (Yakutia) are presented. Positive correlation between the ASDs due to the CC and the indicator of the share of rural settlements in the republics has been revealed (correlation coefficient Spearman (r) = 0.7, p≤0.05). With the other demographic indicators selected for the study, the correlation has not reached the required strength and reliability (r<0.7, p>0.05).

The article presents the medical and demographic situation in the Republic Sakha (Yakutia) for the period 2010-2017. The authors evaluated medical and demographic indicators based on official data of the Federal State Statistics Service of the Russian Federation (FSSS or Rosstat) and the Territorial body of the FSSS for the Republic Sakha (Yakutia). An attempt was made to predict the possibility of fulfilling indicator values in accordance with the strategic objectives of the development of the Russian Federation until 2024. The authors came to the conclusion that the goals would be achievable, but in case that the rates of reduction of total mortality and infant mortality, as well as an increase in life expectancy in RS (Yakutia) will be maintained and even improved.

The objective of the study was to establish the relationship between the dynamics of γ-background of the environment in the period of magnetic storms and the blood content of total cholesterol and high-density lipoproteins in patients with hypertension with different temperament and anxiety, taking options for antihypertensive therapy: targeted and not targeted (empirical) on the blockade of psychosomatic characteristics of patients, and to determine the most effective treatment option. It was revealed that during the period of magnetic storms with increased γ-background power (within the regional norm) in healthy individuals and patients with hypertension on the background of any variant of antihypertensive therapy, total cholesterol in the blood increased and high – density lipoproteins decreased in a temperamental series: choleric – sanguine – phlegmatic–melancholic. It was established that the treatment option targeted at relieving the psychosomatic features of the patient is the most effective and preferable.

The article analyzes the respiratory function indicators in two ethnically different groups (Yakuts and Russians) of the Republic Sakha (Yakutia) of the same age and sex. It shows that in the Yakuts, compared to Russians, some reserve respiratory system indicators are reduced. The results of a study of respiratory function in smokers show a significant respiratory obstruction caused by tobacco smoke. The degree of respiratory obstruction in smokers increases in direct proportion to the length of time they smoke. Against the background of smoking increases hypoxia, blood oxygenation and oxygen transport to tissues. In smokers, the rate of lipid peroxidation and the condition of antioxidant protection of the body depend on the length of time they smoke.

The results of comparative study of chronic generalized periodontitis (CGP) of average severity in elderly and senile patients are reported. The development of CGP of medium severity in elderly and senile people is accompanied by activation of humoral immunity with excessive synthesis of all immunoglobulins in blood and saliva, the pressure of complementary activity is established, analysis of indicators of general and local immunity indicates differences between elderly and se-nile patients.

The authors analyzed dietary intake of freestyle wrestlers depending on the season, taking into account the daily energy expenditure. The obtained data conclude that the daily food ration calorie does not reimburse the daily energy consumption of athletes. The chemical composition of nutrients in the daily diet of athletes quantitatively and qualitatively does not correspond to the standards recommended for freestyle wrestlers.

Article is intended to acquaint the reader with experience in applying the methods of the human and natural sciences for the reconstruction of the diet of the ancient Yakuts. Ethnographic texts, archaeological material, analysis of the stable carbon isotopes δ¹³С and nitrogen δ¹⁵N on the bone collagen of humans, animals and fish were used. The advantages and disadvantages of using this analysis are noted. Detection of toxic substances in the hair of the deceased was made.

The article presents the key indicators of the maternal and child health service for 2000-2018 in the Arctic regions of the Republic Sakha (Yakutia) and in general in the RS (Ya) and the Russian Federation. The article analyzes the indicator of infant and maternal mortality in the RS (Ya), including in the Arctic zone. It is noted that according to the official medical statistics, the infant and maternal mortality rate in the Arctic zone of the Republic Sakha (Yakutia) has reached a historical minimum.

Cardiohemodynamics and variability of heart rhythm at rest and at local cold influence in individuals with different initial types of vegetative regulation are studied. The obtained results indicate that young men with a predominance of parasympathetic orientation in the heart rhythm regulation demonstrate high stability of autonomic regulation to the presented cold test, which was manifested by the absence of statistically significant shifts in all studied cardiorhythm indicators and may indicate the cold resistance of this contingent.

The analysis of the clinical and endoscopic picture of peptic ulcer disease (UD) in patients in the studied ethnic groups in the Far North conditions was carried out. Duodenal ulcer was detected in both ethnic groups, more often in men. In the indigenous population UD was detected mainly in the middle working age, more often with the localization of an ulcer in the stomach. In patients with a long ulcer history, the degree of HP contamination in the mucous membrane is reduced. At the same time, weak contamination is more frequent in the group of patients from the indigenous population than in non-indigenous one.

In order to assess the metabolic state of the indigenous and non-indigenous population, the activity of certain enzymes in the blood serum was determined in people living in rural, industrial and Arctic groups of the regions of the Republic of Sakha (Yakutia). Differences in the activity of serum enzymes in the indigenous and non-indigenous population of Yakutia are associated primarily with the various energy needs of the body. Significantly higher activity of enzymes involved in bioenergy among indigenous population is consistent with the opinion of researchers about amore intense energy exchange of the indigenous population, acquired in the process of long-term adaptation to the harsh conditions of the North.

An ultrasound study was conducted to study the anatomical and morphological structure of the common carotid artery (CCA) and carotid intima-media thickness (IMT) among Evens of the Arctic zone of the Republic Sakha (Yakutia) of different age and gender. It has been established that the diameter of the left CCA is larger than the diameter of the right CCA; the increase in the carotid IMT occurs more with age in the left CCA in both genders. Average age at which thickening of the intima-media complex to 1.0 mm and more occurs, in general, for all groups was 58.73 years, which is 5.2 years later than for residents of Central Russia.

The literature review provides modern data on the genital microbiocenosis, describes the role of the most common microorganisms in the initialization of the inflammatory process. The integral role of opportunistic microorganisms is described in the development of inflammatory diseases of the pelvic organs.

Adaptive physical culture forms a conscious attitude to one’s strength, the ability to overcome not only physical, but also psychological barriers that prevent one from leading a fulfilling life. In article the authors defined adaptive physical culture not only as a method of using physical education for people with health problems, but also as a research task in the general program for studying neurodegenerative diseases at the Yakut Science Centre of Complex Medical Problems.

The urgency of creating and implementing a register of pregnancy and childbirth in the Arctic zone of the Republic Sakha (Yakutia) with a retrospective analysis of all currents and outcomes of pregnancy and childbirth for the timely prediction and prevention of perinatal complications and transportation of pregnant women to the III level of maternity care institutions has been determined.

The immune status features were assessed in a sample of women with chronic endometritis (CE) after pregnancy termination against the background of extragenital diseases (EGD) (anemia and chronic pyelonephritis). In women with CE a high frequency of bacterial vaginosis, microbial contamination of the cervical canal (Escherichia coli - in one third), moreover, than endometrium (Enterococcus faecalis and Bacteroides fragilis - in hypoplastic type) was found. The study of the activity of cellular and humoral immunity links at CE, taking into account the type of inflammation and the presence of infection of the uterine mucosa, allows for rehabilitation of women after pregnancy termination against the background of EGH, which is adequate to the identified disorders.

The efficacy of treatment of neuroendocrine tumor metastases in the liver by transarterial chemoembolism (TACE) was assessed. In a small number of patients it was shown that TACE contributes to normalization of the general condition of patients, reduction of the intensity of carcinoid syndrome manifestations, reduction of metastatic foci, causing a positive response (partial response or stabilization) in more than half of patients.

The paper discusses the peculiarities of diagnostics and removal of x-ray visualized foreign bodies from soft tissue. Foreign bodies of soft tissues are accompanied by clinically significant inflammatory processes in 40% of cases. The application of the proposed measures for the removal of x-ray visualized foreign bodies can significantly improve the results of treatment of this pathology.

As a result of studying the bioethical aspects of DNA testing of autosomal recessive deafness-1A (DFNB1A), the main range of bioethical problems that may arise during the mass introduction of DNA testing for hereditary hearing impairment, which in the future will require moral, ethical and legal understanding of the results of the introduction of DNA testing in medical practice was identified. Ethical rules for DFNB1A DNA testing have been developed.

The causes of complications and repeated surgical interventions in the surgical treatment of patients with "acute scrotum syndrome" in the early and late postoperative period were identified. Surgical complications in acute scrotal diseases are different. Typical errors can be both tactical and technical. Complications are more common in the acute period. Purulent complications are directly dependent on the duration of the disease and are aggravated by secondary changes in the scrotum organs. The low frequency of hydatid undetecting with its combination of torsions is not a reason for a complete revision of the scrotum, since the overall invasiveness of the operation will increase significantly. Most of the complications are manageable and their frequency decreases if a number of preventive measures are observed.

The article presents 2 clinical cases of congenital central hypoventilation (CCHS) in children in the Republic Sakha (Yakutia). The first case is a child born in 2016; the diagnosis was confirmed at 7 months of age. The second case is a child born in 2018; the diagnosis was confirmed before 1 month of life. In clinical practice, there is often a hypodiagnosis of this disease, which explains the rarity of its definition. Taking into account clinical manifestations and depending on their intensity, early diagnosis prevents undesirable consequences of hypoxia and hypercapnia episodes, provides proper control over asphyxia episodes and determines the disease prognosis. Since CCHS usually manifests itself in the neonatal period and mimics a multitude of diseases, differential diagnosis requires the elimination of a variety of conditions accompanied by alveolar hypoventilation, including congenital myasthenia, a number of myopathies, diaphragm dysfunction, various lung and heart defects.

Spontaneous pneumothorax most commonly occurs among able-bodied male population at the age of 20-40; thus revealing not only medical but also social significance of the problem. We have described the case of spontaneous pneumothorax of a 17-year old male adolescent, admitted to the department of pulmonology of the Pediatric center, Republic Hospital №1 – National Center of Medicine. The significance of the case results from clinical manifestation of the spontaneous pneumothorax associated with a severe and acute attack of the bronchial asthma.