The purpose of this study was to investigate the polymorphic loci of interleukins genes IL4 (C589T, G/C3’UTR), IL4R (Q551R, I50V), IL5 (C703T), IL5RA (G80A), IL9 (T113M) in patients with asthma and in the control group of individuals. As a result of the analysis, we showed that the markers of an increased risk of developing asthma in the children-Yakuts are the C allele and the CC genotype (G/C 3’UTR) of the IL4 gene, the T allele and the genotype TT (C589T) of the IL4 gene, the allele of the R (Q551R) gene IL4RA, allele I (I50V) of IL4RA gene, allele M (T113M) of IL9 gene. Thus, this study for the first time shows the association of polymorphic variants of IL4, IL4RA, IL9 genes with the development of asthma in the Yakut population.

Polymorphism of the I148M Gene of the PNPLA3 Gene was studied in patients with type 2 diabetes of the Yakut nationality. The predominance of the GG Genotype (58.5%) with a G-allele frequency of 74.1% was revealed. The normally functioninG protein of the PNPLA3 Gene reGulates the activity of triGlyceride hydrolase and lysophosphatidic acid acyltransferase. It is likely that the hiGh frequency of the mutant allele G in the Yakuts with type 2 diabetes may be one of the causes of the lipid metabolism mechanism disorder in the liver.

The research was conducted in the north of Yakutia in places of compact residence of indigenous people of the North. High prevalence of hypertension in the adult population was revealed, its highest rate was observed in Anabarsky district. We studied the frequency of metabolic syndrome (MS) in the indigenous people of Yakutia. The highest frequency of MS was identified in the Evenks and the lowest among the Chukchi. In women MS was observed significantly more often than in men.

A clinical genealogical and molecular genetic analysis for the presence of mutations in the DRPLA gene in patients with an unidentified form of cerebellar syndrome in Yakutia was carried out.
Expansion of CAG repeats in the DRPLA gene was found in four members of the Yakut family. Clinical symptoms of patients with dentatorubralpallidoluysian atrophy (DRPLA), a rare form of autosomal dominant spinocerebellar ataxia, from the Yakut family – ataxia, extrapyramidal and psychiatric disorders – it can be attributed to a later debut with a small degree of expansion of CAG repeats.

We discuss one of the issues of prenatal diagnostics – the bioethical dilemma of the fate of a foetus with a mutation. We believe that prior to the onset of the disease, the individuals-carriers of SCA1 gene mutation cannot be called diseased, as they are completely healthy in their physical and intellectual development.
The phenomenon of DM anticipation depends heavily on inheritance from diseased mothers and increases the risk of birth of an almost completely unviable baby with a severe congenital DM. An ethical dilemma arises: «Should we classify spinocerebellar ataxia type 1 as a ‘less serious’ genetic disease for prenatal diagnostics, and myotonic dystrophy as a more serious disease for prenatal diagnostics?» This is a very complex issue and requires discussion not only among the specialists, but also lawyers, psychologists and the general population of the republic.

The comparative analysis of prevalence and structure of congenital cleft lip and palate (CCLP) among children living in Yakutia for the last decade has been carried out. At the same time the assessment of the direct and indirect interrelation has been carried out according to medicalgenetic consultation of patients and their parents. Studying of congenital anomalies frequency of maxillofacial area at children characterizes an unfortunate trend of their increase during observation.
The obtained data demonstrate that unilateral clefts of the upper lip and palate and also the isolated clefts of the hard and soft palates prevail in their structure. The uranostaphyloschisis was revealed more often in CCLP structure, further there were unilateral through cleft lip and palate, bilateral through clefts, hidden cleft palate, isolated cleft lip and alveolar process where children with syndromes of hemifacial microsomia, Pierre Robin and Gorlin-Goltz are the hardest in holding complex treatment-and-prophylactic actions and medical-social rehabilitation. Some examined children had severe forms of congenital malformation, due to syndromes of hemifacial microsomia and Pierre-Robin’s syndrom. Meanwhile some children were revealed to have the inherited forms of malformation of maxillofacial area and also Van der Woude syndrome.
The analysis of pathological sign or syndrome among direct and indirect relatives characterizes the existence of some features where the main congenital malformation of maxillofacial area is traced from indirect relatives, and the direct genetic interrelation from mother or father. Our analysis has revealed the existence of features by gender. So, palate clefts were often found at girls in comparison with boys. At the same time boys prevailed on the contrary in indexes of unilateral clefts lip and palate. The dominance of left-side localizations of congenital clefts of the upper lip and palate was revealed by localization among these pathologies.
The analysis of the obtained data characterizes that the first stage of perfecting of complex medical-social rehabilitation is the creation of the uniform regional database of children with congenital clefts of the upper lip and palate.

The aim of the study was to evaluate the results of surgical treatment of patients with uncomplicated forms of acute appendicitis using the laparoscopic method in conditions of the multidisciplinary surgical Center of the Republic Sakha (Yakutia).
Material and methods. The work is based on the analysis of the results of complex treatment of 582 patients with uncomplicated forms of acute appendicitis, in 287 (49.3%) of whom, laparoscopic appendectomy was performed.
Results. The first experience of laparoscopic appendectomy demonstrated the promise of the method, as well as its high efficiency and safety.
Conclusion. The introduction of the method allowed reducing the number of postoperative complications by 3,0% and shortening the length of stay in the surgical hospital by 42,8%.

In order to study the condition of patients after liver transplantation the histories of patients who were on inpatient treatment at the RH№1 - NCM department of therapy, Yakutsk in 2003 – 2017, were analyzed. Transplantation was performed in the stage of decompensation of liver cirrhosis of viral and non-viral etiology. Timely transplantation of the liver prevents fatal outcome and prolongs the life expectancy of patients.

Objective. To study the peculiarities of heart rate variability in powerlifters depending on the initial type of vegetative regulation under the influence of the training process and the performance of active orthotropic tests.
Material and methods. The study involved 38 men aged 18-25 years, involved in powerlifting. Registration of the cardiorhythmogram was performed using a vegetotester «VNS-Micro», and the treatment was carried out on the basis of the software package «Poly Spectrum» of Neurosoft Company (Ivanovo). The study included several stages: 1) recording the ECG (rhythmogram) in the initial state; 2) after performing the orthotropic test; 3) performing strength training with about maximal anaerobic power; 4) ECG (rhythmogram) recording after training; 5) performing an orthotropic test with subsequent registration of the rhythmogram.
Results. In response to the training load, the powerlifters with normovagotonic regulation have a shift in the vegetative balance toward the predominance of sympathetic activity. In powerlifters with this type of autonomic regulation in response to an orthostatic test before training, there is an increase in sympathetic and a decrease in parasympathetic activity, which indicates a high reactivity of regulatory mechanisms and reliable functional capabilities of the body liftlifters. In powerlifters with normosympathicotonic type of autonomic regulation in response to an orthostatic test before training, the time indices (SDNN, rMSSD, AMo, SI) do not change significantly, which indicates a low reactivity of the autonomic nervous system. At the same time there is an increase in VLF, which indicates the connection of the central department to regulate the rhythm of the heart. High voltage regulatory mechanisms before training, low reactivity of the autonomic nervous system, high centralization in the management of the heart rhythm indicate a low functional capacity of the body powerlifters with normosympotonic type of autonomic regulation.
The conclusion. The peculiarities of temporal and spectral parameters of heart rhythm in athletes engaged in powerlifting are revealed depending on the dominant type of vegetative regulation. It is shown that the same training load leads to different stresses of the regulatory mechanisms (according to the heart rate), depending on the dominance of the VNS department.

For experimental purposes, the blood of children with hematuria syndrome in acute and chronic glomerulonephritis and IgA nephropathy was studied by IR spectroscopy. The obtained results indicate the possibility of using IR spectroscopy as an additional diagnostic method for differentiating nephropathies.

The method for assessing the accessibility of analgesic therapy at the regional level with the calculation of the accessibility index based on the integration of logically selected indicators is substantiated. At ranking the municipal districts in accordance with the degree of the generalized index of availability of narcotic drugs and psychotropic substances (ND and PS), the correlation of this index with the level of morbidity and mortality from malignant neoplasms in the regions of the republic was established. In order to assess the availability of ND and PS the nomenclature of the drugs of that group in the municipal areas classified according to the value of the accessibility index of narcotic drugs and psychotropic substances was studied.
Municipal areas with very low availability of analgesic therapy were identified. Low values of the assortment of analgesic therapy are established in these municipal districts. Their common features are geographical affiliation to the Arctic and northern regions of the republic, considerable distance from the center of the republic, low density of residence, lack of a regular land type of transport.

The data of appeal to the ambulance station with hypertensive crises of residents of Yakutsk with a geomagnetic field at the maximum (2013) and a minimum (2017) of the XXIV solar cycle was compared. It is shown that in the years of high solar activity, the effects of geomagnetic storms are manifested in the increase in the number of calls for emergency medical care with a preliminary diagnosis of the hypertensive crisis. At the same time, the majority are elderly and senile people, who, are believed, to have a cardiovascular system more susceptible to the influence of geophysical perturbations. An increase in the number of patients with hypertensive crisis is observed not only on the day of the maximum decrease of the Dst-index (the 0th day of the storm), but also in the interval from the -2th to the 2nd day of the storm. Differences in the reaction time are revealed depending on the type of geomagnetic storm: during sporadic storms, the maximum of calls is most often on the – 1st day, and for recurrent ones – on the 0th day.

Immune status was studied in children with chronic nasopharyngitis. It was revealed that in children with chronic nasopharyngitis the content of IgA, CD25 + lymphocytes, CD4 + was reduced. All examined children underwent therapy with lycopid 1 mg per day for 10 days; a second course was performed after 1 month. It was revealed that lycopid therapy in patients with chronic nasopharyngitis lead to normalization of decreased immune status indicators: an increase in CD3 + and CD25 + content, an increase in IgA concentration.

The quality of life (QL) of an able-bodied population of East economic zone (EEZ) of the Sakha (Yakutia) Republic by means of the standardized questionnaire of SF-36 was studied. Researches showed that mean values of scales of the population QL in the zone were at the level lower than 50%. The male population in EEZ had the best indicators of QL on all scales of the questionnaire of SF-36 in comparison with women’s. Dynamics of QL indexes of the population of EEZ of the RS (Ya) is comparable to the common regularities of change of QL with age received in other researches. However, it should be noted that decrease in parameters of quality of life generally happens due to deterioration in physical health. The QL psychological component practically does not depend on an age and remains invariable for a long time. These parameters were higher than the population indices in the republic.

The analysis of the medical and demographic situation has been conducted in the Central Economic Zone (CEZ) of the Sakha Republic (Yakutia). CEZ includes such districts, as Amginsky, Gorny, Kobyaysky, Megino-Kangalassky, Namsky, Tattinsky, Ust-Aldan, Khangalassky, Churapchinsky and Yakutsk - the capital of the republic. According to medical and geographical zoning, these municipalities are part of a group of central and beyond the Lena River districts. The following medical and demographic indicators: fertility, mortality, natural increase, infant mortality, nuptiality and divorce rate were analyzed. At the same time, the indicators of the natural movement of the population were considered depending on the attribution to the urban or rural population. The medical and demographic situation in the CEZ was revealed as generally favorable. Yakutsk and most of the districts are characterized by a relatively high fertility and low mortality, which offers a positive picture of natural increase. Infant mortality does not raise any particular concern. There are negative indicators of nuptiality in a number of districts.

A retrospective analysis of the official statistics for the period 1990-2016 was conducted in order to study the level and structure of mortality in the Sakha Republic (Yakutia), It is established that the medical and demographic situation in the Sakha Republic (Yakutia) over the past 25 years is characterized by the high birth rate and high mortality in the young age groups from preventable causes. The mortality of the population by external causes, with a high degree of preventability, leads the causes of mortality in the age categories of children, adolescents, and working-age people. The children deceased from external causes in the age of 1 to 14 years account for 65% of all deaths in this age group, at the age of 15-17 years - 91%, and of working-age persons - 37%. Considering the structure of external causes of death, one pays attention to the high level of deaths by violence. According to 2016 data, the suicide mortality rate (22.7 per 100,000 population) was 34% higher than the average for Russia (14.9), and the murder rate (15.3 per 100,000 population) more than doubled the average one.
Another concerning problem is the death rate resulting from exposure to low natural temperature (cold trauma), which is hardly accounted for in the official statistics. Annually, cold trauma in Yakutia takes more lives than road traffic accidents. According to the 2015data, the cold trauma death rate was 15.1 per 100,000 population, whereas the death rate from road traffic accident was 7.8 per 100,000 population.

Introduction Birth defects (BD) are an important medical and social issue as they represent one of the most important causes of infant mortality and childhood disability. Constant epidemiological surveillance is a core issue in primary prevention of this pathology. The aim of this study was to assess prevalence of birth defects based on population birth registry data. 
Materials and methods The Arkhangelsk County Birth Registry was used in this retrospective cohort study. Database included information on all births at gestational age 22 and more weeks registered in Arkhangelsk County in 2012-2014. Data on variety of perinatal exposures, pregnancy and delivery complications as well as neonatal diseases were available for detail analysis.
Results In 2012-2014, 1870 various birth defects in 1718 newborns were registered in Arkhangelsk County. The total prevalence of BD was 39,9 for 1000 newborns, and the prevalence after exclusion of co-called minor anomalies was 28,6 per 1000 newborns, that significantly higher than the Federal monitoring data for Arkhangelsk region. The most frequent groups of BD were congenital anomalies of circulatory system, congenital malformations and deformations of the musculoskeletal system as well as congenital anomalies of the urinary system. When calculating the prevalence of BD that are subject of mandatory registration in Russia, it was found that their prevalence in the Arkhangelsk County was 6,4 per 1000 newborns in 2012-2014.
Conclusion The total prevalence of birth defects, as assessed by the Arkhangelsk County birth registry, was higher than reported by the Federal monitoring. It can be assumed that this population-based tool allows to estimate the total prevalence of congenital anomalies more completely compared to the current Federal monitoring.

Formation of indicators of disability of children of a city children’s polyclinic of the regional center of subarctic territory is dictated by necessity of an estimation of results of daily practical work of the pediatrist. 
The analysis of the disability of children in 2011-2015 on the basis of the medical documentation of the Syktyvkar city children’s polyclinics №3, Komi Republic, Russia was carried out.
In the structure of the causes of disability prevail: diseases of the nervous system - 34.74±3.55% (p<0.001); congenital anomalies, chromosomal abnormalities - 29.46±9.63% (p<0.001); diseases of the ear and its adnexa - 9.88±2.22% (p <0.001); diseases of the endocrine system, eating and metabolic disorders - 8.44±2.07% (p<0.001) and neoplasms - 7.21±1.93% (p<0.001). The share of these five classes of diseases is 84.69% of the total structure.
The frequency of determination of disability in children annually increases by +1.09 units with a growth rate of + 0.91% and a growth rate of 100.91%.
The incidence of diseases that caused disability in children was highest in the following classes: diseases of the nervous system - 42.06±4.29 (p<0.001); congenital anomalies, chromosomal abnormalities - 29.57±3.88 (p<0.001); diseases of the ear and its adnexa - 11.96±2.69 (p<0.001); diseases of the endocrine system, eating disorders and metabolic disorders - 10.21±2.51 (p<0.001) and neoplasms - 8.74±2.33 (p<0.001).
A stable annual growth rate of children with disabilities at 4.52% suggests that the process will continue in the future.
Complex treatment carried out within the framework of individual programs for rehabilitation / habilitation of disabled children allowed to completely restore health in 43 children (4.77%), improve the condition - 52 (5.77%), stabilize the pathological process - 90.24%. Weight gain occurred in 4 people (0.44%) due to the progression of the disease.

The article presents the analysis of the frequency of preterm birth and very early preterm birth in the structure of all births in the Republic Sakha (Yakutia), and also analyzs perinatal mortality and its components.

The analysis of hydrochemical factors of the environment with the purpose of finding out the degree of their influence on the incidence of malignant neoplasms of the population living in extreme conditions of the Far North has been carried out.

The relevance of the presented review is due to the high frequency of neurofibromatosis type 1 (NF1) in the population and frequent association with the development of malignant neoplasms. It is mainly characterized by a number of macules, the color of «cafe´-au-lait «, freckles in the skin folds, Lisch nodules and neurofibromas. Because clinical manifestations depend on the patient’s age, and there are a number of other overlapping syndromes and diseases, it is usually difficult to put an early clinical diagnosis. At present, there are many molecular methods for diagnosing NF1, the highest sensitivity of any of these methods is ~ 95%.
This article examines the causes, pathogenetic mechanisms of the development of the disease, its complications, molecular genetic methods of investigation.

The article presents a literature review of main risk factors of the development of congenital heart defects in children - genetic and environmental ones.

The epidemiological researches in Russia demonstrate the prevalence of caries among the population that determines the frequency of its complications and endodontic treatment [1, 3, 10, 12, 13]. It needs the improvement of effective endodontic treatment that is a current odontology problem [8, 15- 17].
The efficiency of endodontic treatment depends on quality of preparation and sealing of the tooth root channel. At the same time clinical performance and biological compatibility of widespread endogermetics in dental practice is various since there is a direct interrelation between the choice of sealing material, method of root channel obturation and the favorable prognosis after treatment.
There are many technics of root channel obturation in endodontic treatment complications of caries, each of which has the advantages and disadvantages. The most important of them from the clinical point of view is a method of root channel obturation by gutta-percha points and endogermetics. At the same time various materials are applied to channels sealing obturation. Zincum-oxide-eugenol pasta is the cements modified for endodontic use. Their main property is the bactericidal effect. Sealers containing a calcium hydroxide, have antimicrobial activity, osteogene effect. Meanwhile the sealers containing a formic aldehyde have high toxicity. Nowadays polymers are widely applied in endodontic practice. Advantages of this group of sealers are good handling properties, adhesion, they aren’t dissolved under the influence of tissue liquid, have dimensional stability, are indifferent to periodont. At the same time the analysis of research data of density of root channels obturation by scanning acoustic and optical microscope characterizes the adequate obturation of root channels.
For the last decade a large amount of new materials for root channels was offered. There are still attempts of creation of new germetics, new technologies are being developed, which will have positive effect to more predictable and reliable treatment of caries complications, promoting teeth conservation.

The article contains the analysis of literature of more than 50 years. It gives the ground to identify the caries of children’s temporary teeth as infectious process. Under favorable conditions, it can turn into an infectious disease with natural peculiarities of epidemiology, etiology, pathogenesis, pathomorphology, clinical manifestations, complications, immunological changes, with the possibility of specific and nonspecific prevention. The decay is viewed as the globally common infection with high social value.

Today according to Russian and foreign researchers the prevalence of parodontium diseases is high and does not tend to decrease. A wide range of etiological factors and pathogenetic mechanisms of the development of parodontium inflammatory diseases influence on the carrying of complex treatment-and-prophylactic actions. At the same time parodontium diseases often lead to teeth loss, contributing to formation and development of dentoalveolar system disorders and further digestive tract diseases. In this regard, pathological processes of parodontium tissues have both medical and social value as patients are usually of the working-age.
According to the WHO data the prevalence rate of parodontium diseases among various groups of population is characterized by particular features. So, worldwide more than half of the examined patients at the age group of 12-15 years have parodontium diseases, at the same time at the age of 35-44 years it has total character. At the same time in Russia 12-year old patients make 1/3, and 15-year-old teenagers have slightly lower than a half surveyed, at the age of 35-44 years only 1/5 part has rather healthy parodontium. Meanwhile, the high level of parodontium diseases was noted among the North inhabitants due to severe climatic conditions and specific regional environmental and biological risk factors.
It should be noted that quite often treatment of periodontal disease of inflammatory and destructive processes can take several years, and in certain cases it continues during all life. A desire of the patient and dentist to gain most expected clinical effect without damage of the functional activity of dentoalveolar system that demands carrying out further researches for the perfecting of the periodontal help to the population is explained.

The article presents a clinical case of severe postoperative complications with a clinical death episode in a patient with coronary artery disease after a bypass surgery. On the second day after the surgery, the patient, who had underwent a mammary coronary bypass surgery of the anterior descending artery and an aortocoronary bypass surgery of the right coronary artery and circumflex artery with artificial circulation, developed acute kidney injury, requiring renal replacement therapy. In the following days, there was esophageal-gastric bleeding with the development of DIC-syndrome and hemorrhagic shock, resulting in clinical death registered for 2 minutes. After a successful cardiopulmonary resuscitation, a number of other serious complications were observed: acute respiratory distress syndrome and acute destructive calculous cholecystitis, treated with cholecystectomy.
A comprehensive intensive therapy, including vasopressor/inotropic hemodynamic support, aggressive respiratory therapy, efferent methods of detoxification, resulted in successful management of all the complications, stabilization of the patient’s condition, restoration of the functions of organs and systems and recovery of the patient.

This article is devoted to the observation during 3 years (2014-2017) of the clinical case of bronchiectasis in a teenager of 16 years. His complaints were shortness of breath during physical exertion, a wet cough with purulent sputum. From an early age he often (about 5 times a year) had bronchitis with an obstructive syndrome. He was hospitalized in the pulmonology department with the diagnosis: community-acquired pneumonia, middle-lobe, moderate severity. According to the results of computed tomography of chest organs, a conclusion was made: bronchiectasis of the middle lobe of the right lung. 

The article describes a clinical example of successful regional thrombolysis with massive pulmonary arterial thromboembolism of the pulmonary artery of women in the first first trimester of pregnancy. Conducted local thrombolytic therapy saved not only the life of a woman, but also the life of a conceived child.