The article describes the clinical signs (symptoms) of a rare storage disease in eleven Yakut infants. All the children were from unrelated families. The disease is very severe, leading to the disability and death at an early age. Diagnostics using the most complicated and advanced biochemical methods hasn’t produced results.

This artiсle is devoted to the question of rare hereditary disease from the phakomatoses group with autosomal dominant type of inheritance. It’s Bourneville- Pringle`s disease. There are discussed the questions of this pathology prevalence, variable clinical picture, modern diagnosing procedure. The results of examination of children with tuberous sclerosis are presented.

The results of the genetic epidemiological study of monogenic hereditary disorders (MHDs) among child population of eight districts of Tatarstan Republic are presented in the report. The total size of the investigated population is 268,894 individuals, from which the proportion of child population makes 21.44% (57648 children). The total population was examined by standard protocol of medical genetic research elaborated in laboratory of genetic epidemiology, Research Centre for Medical Genetics. About 3500 MHDs of OMIM could be identified by this protocol. Clinical investigations were performed by neurologists, ophthalmologists, orthopedic, otolaryngologists, dermatologists, pediatricians and clinical geneticists, focused on diagnostic of MHDs. The spectrum of MHDs detected in the eight districts RT comprises 256 diseases, including 135 autosomal dominant (AD), 97 autosomal recessive (AR), and 24 X-linked diseases. The MHDs diversity in the child population of RT comprised 158 diseases (61.72% the total number of registration disorders), including 84 (62.22%) AD, 54 (55.67%) AR, and 20 (83.33%) X-linked ones. The load of MHDs (AD, AR and X-linked) in rural and urban child population is calculated, the variety of common MHDs is described. The prevalence of MHDs among children from Tatarstan region occurs to be 1:103. Significant differentiation in the values of the MHDs load (AD, AR and X-linked disorders combined) between districts was detected. An attempt to explain the revealed differences is undertaken.

In a result of clinical and epidemiological and genetic studies of the motor neuron disease in Yakutia, according to the register of the neurological department of Belarus № 2 for the period 1989-2013 1 MND family event was identified and 3 patients with spinal - bulbar amyotrophy Kennedy. The complexity of the differential diagnosis between these diseases has been very difficult on the clinical stage of diagnosis, because in all cases isolated lesion of peripheral motonevrona characteristic of both diseases was found.

For the first time in the Republic of Dagestan (RD) a comprehensive clinical - epidemiological and molecular - genetic research of limb girdle forms of progressive muscular dystrophies (LGPMD) was conducted. LG forms of PMD: 2A type, 2B type and distal type Miyoshi were identified. The prevalence of LGPMD in RD populations was determined. LGPMD clinical polymorphism in patients living in the mountain, foothill and lowland regions of RD was studied and practical diagnostic algorithm for neurologists was made. Mutation which causes the development of LLPMD family forms was identified.

In acute and recovery periods it is obligatory to detect blood diseases and pathological conditions leading to recurrent cerebral thrombosis. 

Aim of the study. To define genetic factors influencing thrombogenesis in children with AIS.

Materials and methods. At neurosurgical department of Children’s City Clinical Hospital named after N.F. Filatov (St. Petersburg) we observed 33 children with AIS (20 male and 13 female) aged from 6 months to 17 years old. The diagnose was based on the developed focal neurological symptoms, that were present more than 24 hours, and changes, characteristic for AIS [18, 4], on the KT and MRT images. During history taking hemostasis disorders were detected in children and their relatives. 18 children had molecular genetic investigation of 10 genes thrombophilia markers.

Results and discussion. In the history evidence of hemostasis disorders was found in 3 children with AIS and included: easy development and slow disappearance of bruises, inadequacy of hematomas to pattern and severity of injury, prolonged nasal, sclerotic and gum bleeding (also after traumas and operations). Parents of children with AIS hadn’t suffered stroke, but their nearest relatives had different strokes – in 6 cases on the mother’s side, and in 8 cases on the father’s side. During history taking in some parents, mainly in mothers (15 cases), and in 2 fathers hemostasis disorders signs were detected, in the majority of cases – haemorrhagic. At data assessment of thrombophilia genes’ polymorphism (in 18 children) the occurrence frequency of mutant allele in the European population was considered. We determined the coefficient of ratio of gene mutation frequency in the study group (p%) to the mean figures in the general population (P%), and we may estimate the value of this polymorphism in the course of AIS in the study group. According to this ratio (p/P) prothrombin gene Prt (G20210A), MTHFR A1298C, fibrinogen FGB (G-455A), platelet receptor gene GP Ib and GP IIIa had the highest coefficient. The widespread cause of cerebral vessels’ thrombosis, factor V Leiden mutation, was not detected.

Conclusion. The obtained results demonstrate that during history taking in children with AIS and their parents it is important to detect not only thrombosis but also haemorrhagic disorders. Children with confirmed AIS need further molecular genetic study of thrombophilic markers to detect etiological factors, as all the examined children had heterozygous and homozygous mutant genes.

This paper presents the characteristics of the gene pool of the three Yakuts ethnoterritorial groups (Central, Vilui and Northern) through the lines of mitochondrial DNA and Ychromosome. Data for study was collected in expeditions carried by Yakut Research Center of Complex Medical Problems, Siberian Branch of Russian Academy of Medical Sciences, during 2002-2004. The population sample included healthy unrelated individuals whose ethnicity was considered mainly until the third generation. The results mainly correspond with the historians’ opinion of the close relationship between Vilyuy and Central Yakuts, and Northern Sakha with the immigrants from Central Yakutia. Special characteristics of different ethnic geographical groups of the Yakuts can be observed through Y-chromosome.

In this article, we have studied polymorphisms in the genes encoding components of carbohydrate metabolism and fibrinolysis system in Yakuts. Genotypes SNPs rs9939609 gene FTO, rs1137101 gene LEPR, rs1799889 and rs6046 gene SERPINE1 F7 gene were identified in the study group patients with metabolic syndrome (n = 100) and healthy (n = 100). We have revealed that the MS group «+» prevailed polymorphic genotype 4G/4G gene SERPINE1, associated with obesity (p=0,009). The risk of developing MS in the Yakut population became involved with genotype 4G/4G gene SERPINE1 (OR = 3,568; CI 95%: 1,534-8,299). In case of polymorphic variants of other genes we studied the risk of MS has not been identified (OR < 1). There was a statistically significant association of gene polymorphism Gln223Arg LEPR level of total cholesterol (p = 0,038), triglycerides (p = 0,033) and SC (p = 0,030) in Yakut ethnic group. Association analysis of polymorphism -675 5G/4G gene SERPINE1 with MS components in the sample revealed significant differences in anthropometric parameters: BMI (p = 0,016), WC (p = 0,001), the ratio of WC to HC (p=0,019).

In studying of influence of food on a genome of the person is engaged nutrigenetics science which is extremely demanded, investigating how different nutrients are capable to modify human genes and as it in turn influences health of the person. The scientific research institute of health of SVFU for decades carries out studying of nature of food of the population, living in an extreme and severe zone. Results the researches conducted in various medico-economic zones of the republic showed that there is a distinction in the daily caloric content of a diet among respondents depending on a floor and an ethnic origin. Low consumption of the main micronutrients connected with insufficient consumption of the main food is established. Despite the occurred changes, food of the population is unbalanced on all main components, including on essentsialny for health – to mineral substances and vitamins and doesn't correspond to recommended Russian physiological requirements of adult population. Conditions of environment and increase in incidence of people of all age caused the necessity of creation of functional food, i.e. products with the additional functions, useful nutritious and physiological characteristics. Using in production of foodstuff of new generation unique Yakut herbs and wild-growing berries, it is possible to improve adaptation and immune opportunities of the person. At population catering services in the conditions of the North it is necessary to consider and food habits of nationalities living here.

This article reflects the genetic aspects of chronic obstructive pulmonary disease. Modern molecular biology concept comes from an imbalance in the system proteolysis - antiproteoliz , alpha 1- antitrypsin is a major inhibitor of serine proteases, which include trypsin, chymotrypsin, neutrophil elastase, tissue kallikrin, Factor X "a" and plasminogen. The gene PI (proteinase inhibitor) located on the long arm of chromosome 14 (14q31- 32), and the gene product is glycoprotein alpha1 - antitryprisin. Two types of cells expressing the gene PI - macrophages and hepatocytes, the function of hepatocyte, associate tissue specificity of the inhibitor.

Prevalence of some autosomal - recessive diseases in the Republic of Sakha (Yakutia) for genetic testing has been estimated. Among the Yakuts no widespread monogenic diseases such as phenilketonuria and mucoviscidos have been noted. However, there was accumulation of such rare syndromes as 3M and methhemoglobinemia type 1 with major mutation. To decrease a rate of the monogenic diseases in the republic genetic testing system of autosomal-recessive diseases has been elaborated.

Since mental retardation and autism are the commonest brain disorders in children, uncovering their genetic basis is an actual direction in current biomedicine. Application of whole genome scan for studying unbalanced DNA copy number variations allows not only the detection of chromosomal and genomic rearrangements leading to these diseases, but also offer an opportunity to describe pathogenic processes resulting in abnormal functioning of the central nervous system. To assess SNP-oligonucleotide molecular karyotyping (molecular cytogenetic method having the highest resolution for detection of such genomic variations) in diagnostic context, we have analyzed the genome of 100 children suffering from mental retardation and/or autism. Eight numerical and structural chromosome abnormalities (size: >5 Mb) and 20 submicroscopic genomic rearrangements (size: 0.5-3 Mb) were detected. Nine cases exhibited gene mutations manifesting as exonic deletions and duplications associated with the phenotype. As a result, it was concluded that this molecular cytogenetic technique has diagnostic yield no less than 37%. Additionally, further analysis by an original bioinformatics technologies allowed uncovering pathogenic processes associated with the aforementioned mental disturbances in another 55 cases. Thus, combination of SNP-oligonucleotide molecular karyotyping and bioinformatics analysis has high efficiency for detection of genomic pathology and identification of molecular mechanisms for mental retardation and autism.

Partial 1p36 monosomy is one of the most frequent microdeletion syndromes. However, the diagnosis appears to be hindered due to the exceptional clinical diversity. Here, we present a comparative analysis of cytogenetic and molecular cytogenetic methods employed for testing of this chromosomal aberration in children with mental retardation and congenital malformations. Application of cytogenetic techniques allowed us to reveal terminal 1p36 deletions in 0.1% of cases (2 of 1874). Molecular cytogenetic analysis performed by conventional comparative genomic hybridization (CGH) uncovered 1p36 deletions in 1.3% cases (2 of 150). Using highresolution microarray CGH (array CGH) we found microdeletions in 2.4 % (3 of 125) cases. Detected chromosomal rearrangements were confirmed by a fluorescent in situ hybridization. Array CGH allowed us to characterize the loss of genetic material in microdeletions with 1-10 kbp resolution. It was concluded that molecular diagnosis of 1p36 microdeletion syndrome requires the application of such innovative molecular cytogenetic technologies as array CGH. Our study enabled to estimate for the first time the frequency of 1p36 microdeletion syndrome among children with mental retardation and congenital malformations in the Russian Federation, which appeared to be about 2%.

Authors describe case of translocation trisomy in chromosome 18. Proband’s chromosomal aberration was a result of maternal reciprocal translocation t (2; 18) (q13; q23). The proband A., 28 years old, was directed to the genetic consultation at 12 weeks of pregnancy about detected by ultrasonography chromosomal markers in the fetus. Pregnant burdened reproductive history: the first pregnancy - miscarriage at an early date, second pregnancy is underdeveloped. This third pregnancy was uneventful. Genealogical history of monogenic hereditary diseases and congenital malformations is not burdened. The proband pregnancy was terminated with the consent of the family for the period of 12 weeks for medical reasons due identified chromosomal disorders in the fetus - translocation trisomy 18 (Edwards syndrome) with a poor prognosis.

Empirical risk of giving birth to a sick child in families with reciprocal translocations is about 33%, the theoretical risk is 50% [5].

The identification of chromosomal abnormalities is an important component of clinical genetics. Currently, the methods of classical cytogenetics cannot meet the increasing demands of clinical medicine. The development of fluorescence in situ hybridization techniques (FISH, CGH) has made possible the identification of submicroscopic chromosome aberrations. Progress of the technology has led to the emergence of new high-tech method - comparative genomic hybridization on microarrays (array-CGH, a-CGH). This method is used in many areas of clinical genetics, reproductive medicine and oncology. Besides practical applications, a-CGH is used in fundamental medicine, particularly to study the causes of congenital malformations and undifferentiated intellectual disability, as well as fundamental oncology.

The purpose of research. To analyze of the effectiveness of prenatal diagnostics in the Republic of Sakha (Yakutia) and the effect of combined prenatal screening for chromosomal abnormalities.

Materials and methods. In work the analysis of invasive prenatal diagnostics in the medical genetic consultation Perinatal Centre, Republican Hospital №1 - NCM for 2005-2013, the results of combined prenatal screening in the RS (Y) for 2012 and 2013 are presented. In the laboratory of the prenatal diagnosis of the medical genetic consultation Perinatal Centre 2012 and 2013 by the combined of screening program 16397 pregnant women were examined.

Results. In the system of actions of prenatal diagnostics one of the most important places belongs to the invasive methods for obtaining the fetal material. In most cases, invasive prenatal diagnosis is carried for excluding chromosomal and of monogenic diseases of the fetus. Groups for invasive prenatal diagnosis are formed on the results of the combined prenatal screening, the presence of the echographic markers in the fetus, as well as on the results medical genetic counseling.

Neonatal screening for cystic fibrosis involves early presymptomatic diagnosis of the disease in newborns. The aim of the study was to determine the effectiveness of neonatal screening for cystic fibrosis in the Republic Sakha (Yakutia). The results of neonatal screening, sweat samples and molecular genetic testing of DNA samples from 126 newborns hypertripsinogenemia (level of immunoreactive trypsin in the first test – IRT>70 ng/ml) and 120 patients to the most common gene mutation CFTR. Mutations were found in 17 individuals (11 - heterozygotes, 6 - homozygotes).

The paper presents a clinical case of Crohn's disease, diagnosed in 2014 in a child of 3 years and 7 months. This pathology is rare among children (in the Republic Sakha (Yakutia) - 2 cases). Due to the variability of the clinical picture of the disease it is difficult to diagnose.

Objective: We tested the hypothesis that the aberrant methylation of the promoters and first exons of CDKN2A (p16INK4a, p14ARF), CDKN2B (p15INK4b) and RB1 genes was associated with carotid atherosclerosis.

Methods and results: The DNA methylation status of these cell cycle control-associated genes was analysed in 120 samples of carotid arteries using two different techniques: methylationsensitive polymerase chain reaction (MS-PCR) and methylation-specific PCR (MSP-PCR). DNA methylation was not detected in advanced atherosclerotic plaques or nearby macroscopically intact tissues of the vascular wall from the same patients.

Conclusion: The methylation status of CDKN2A, CDKN2B and RB1 genes does not appear to be a marker of human carotid atherosclerosis.

Preliminary data of the frequency of genetic variants VKORC1 and CYP2C9, affecting sensitivity to anticoagulant therapy, in Asian indigenous and Caucasian patients with acute ischemic stroke in Yakutia is presented in this article. The frequencies of increased warfarin sensitivity alleles CYP2C9*2 (rs1799853), CYP2C9*3 (rs1057910) and C1173T VKORC1 (rs9934438) polymorphism's variants were determined in the group of 15 patients. CYP2C9 genotyping revealed 3 heterozygous for CYP2C9*1/*2. The allelic variant CYP2C9*3 have not been identified in this group. VKORC1 genotyping revealed 4 heterozygous for 1173CT VKORC1. There were 22.2% carrier with allele CYP2C9*2 and 22.2% with T allele of C1173T VKORC1 polymorphism among Asian indigenous patients. Genotyping of VKORC1 and CYP2C9, including CYP2C9*2 allele, is recommended for personified prevention of the cardioembolic stroke in Yakutia.

Gene LPL, encoding enzyme lipoprotein lipase, is the one of the most important genes associated with lipid disorders and the risk of metabolic syndrome. Earlier LPL rs320 gene polymorphism has been reported to be significantly associated with type 2 diabetes in the Yakut population. The aim of this study was to compare LPL rs320 SNP (G/T) allele frequency in different world populations, including the Yakuts and analyze blood glucose level, systolic blood pressure and body mass index in patients with type 2 diabetes and healthy individuals of Yakut ethnic group, depending on the genotype rs320 LPL. So the paper presents a comparison of allele frequencies SNP (G / T) gene LPL rs320, which contributes to the development of a predisposition to type 2 diabetes mellitus in the Yakut population, with distribution of allelic variants of this SNP in other world populations. Also the authors studied the blood glucose level, systolic blood pressure and body mass index, depending on the variant genotype rs320 LPL in patients with type 2 diabetes and healthy individuals of the Yakut ethnic group. The obtained during the study data reveal that in the Yakut population allele G variant rs320 LPL is most prevalent, with which a reduced risk of dyslipidemia and metabolic syndrome under the conditions of traditional nutrition type in the North with a high content of proteins and lipids is associated.

The article presents a literature review on the results of molecular genetic studies of predisposition to alcoholism. Major molecular genetic studies of alcoholism conducted for identifying associations polymorphisms neurotransmitter system and ethanol - metabolizing enzymes in populations of different ethnic groups. Identification of gene polymorphisms association with the risk of developing alcoholism will promote preventive addictology and technologies of personalized therapy.

Human aggression is a species characteristics and subject of interest for anthropologists, geneticists, criminologists, psychologists, psychiatrists and other specialists. This paper studies some types of aggression in Ukrainian population in two coherent generations. The researches involved 2305 people from Ukraine (including 741 men and 1501 women) aged 14 to 72 from Kharkiv and Kharkiv region mostly. It was found that distribution of aggression is mostly normal. The signs of sexual dimorphism and cohort effect related to the disparities between generations were revealed. For example physical aggression is more common for men of both generations. There are signs of verbal aggression and negativism among older generation. On the whole in terms of the majority of aggression types the differences between generations are traceable among women only.

Pharmacogenetics is one of the areas of genetics, the ground of modern personalized medicine and an educational discipline (or its part) for specialists training in different fields of pharmacy. With the aim of awareness studying in the area of pharmacogenetics, the students questioning, specializing in pharmacy, has been carried out for the first time in Ukraine. It has been stated that, more than70% of questioned got the information about pharmacogenetics in University for the first time. However, only more than one-third of respondents (37.7% males and 43.9% females) correctly understand the idea of this discipline. About half of questioned students thought that, pharmacocorrection of hereditary diseases is impossible, while 16.7 % of males and 13.4 % of females did not have a definite opinion as to this question. Thus, the awareness increasing of future pharmacists, as a link between a physician and a patient, about genetic aspects of pharmococorrection is an important problem that requires an immediate reaction.

Hematologic researches of leukogram and nonspecific adaptive reaction of an organism of highly skilled fighters and boxers of Yakutia revealed a loading hypoxia in 30% and organism disadaptation in more than 10% of athletes. Material for the study was conducted among athletes - single wrestlers of the State high sports skills school, School of Olympic Reserve of the Republic Sakha (Yakutia) and Churapchinsky State Institute of Physical Culture and Sports. 169 athletes Yakuts in age from 18 to 28 years old, involved in acyclic sports were surveyed: 112 freestyle wrestlers and 57 boxers. The control group consisted of 30 students of the North- Eastern Federal University named after M.K. Ammosov, aged 19 to 25 years, engaged in physical training program for general university.

Two groups of the population were under study: the first group included indigenous people, adapted to the high latitudes, the second – the non- indigenous, not adapted to local conditions. In the non- indigenous compared with the indigenous people low molecular antioxidant levels were significantly higher and combined with significantly high levels of lipid metabolism. About strengthening the energy metabolism in the Yakutia non- indigenous population, related to adaptation to northern conditions, significantly high levels of glucose, creatinine, and high creatine kinase compared with the indigenous people, showed. Correlation analysis revealed a statistically significant direct relationship between levels of uric acid and the northern experience in the non- indigenous people.

In the article immune mechanisms of formation and the course of gestational complications, pathologies of newborn’s thymus are considered. 
The immune mediated changes in placenta and thymus are proved.

Aim: to study the prevalence of abdominal obesity among the elderly and senile (including long-lived people) population of the city of Yakutsk, and to determine waist circumference cutoff values associated with the components of the metabolic syndrome (MS) in the Yakut and non-aboriginal population aged ≥60 years.

Material and methods: The study of the prevalence of abdominal obesity (AO) was done based on representative sample comprising 485 citizens (210 males and 275 females), aged 60 or over.

Results: Mean values of waist circumference (WC) in Yakuts were smaller (90.5 sm.), than in the non-aboriginal population (94.1 sm.). Prevalence of AO in the total study population was 42.9% (95% CI 38.5–47.4) using NCEP АТР III (2001) criteria, or 65.2% (95% CI 60.8 69.3) using RSC (2009) criteria. All WC cutoff values used were associated with less prevalence of AO in the aboriginal population, compared to non-aboriginal population: 32.9% in Yakuts and 52.4% in non-aboriginal patients using WC cutoff value of ≥102/88 sm., and 58.2% and 71.8%, respectively, using WC cutoff value of ≥94/80. Mean WC cutoff points associated with the 5 components of the metabolic syndrome (arterial hypertension (AH), hypertriglyceridemia (hTG), low HDL cholesterol (hypo-HDL-C), fasting hyperglycemia (5.6 mmol/L)) were 83.0 sm. in aboriginal males, 92.6 sm. in aboriginal females, 97.1 sm. in non-aboriginal males, and 93.1 sm. in non-aboriginal females.

The research was conducted among 164 women from the Sakha Republic (Yakutia) (of average age of 44.6+/- 0.82) diagnosed with histologically verified IIIrd degree dysplasia (CIN III) and uterine neck cancer. Analysis of HPV-contamination of high oncogenous risk among women with uterine neck cancer pathologies showed 78.10 % of HPV DNA detected from the total of 164 female patients. Genotyping assay of HPV-positive samples showed that Type 16 HPV is the most common one (82.81 %).

The influence of vitamin and mineral complex "Valetek-SP Aktiv" on an organism of wrestlers of Yakutia was investigated. Drinking of vitamin and mineral complex within 20-days increases vitamins levels in blood serum and removes the vitamin A, E, C and B1 deficiency in sportsman’s organism and has a favorable effect on lipid metabolism.

Because of the continued tense situation on TB morbidity and high mortality problem of strengthening the prevention of this infection is important. In the last 7 years in Khabarovsk Krai antituberculosis institutions a program of the International Society of the Red Cross and WHO Crescent against TB has being realized. One of the conditions of this program is to create a set of epidemiological, clinical and hygienic measures aimed at preventing the spread of infectious disease, comprehensive infection control programs. Infection Control Program includes three levels of control: administrative, engineering and personal. The authors describe ways to implement infection control at all levels and express the view that the use of such approaches in general health care institutions, especially outpatient clinics.

The paper presents the results of studying the organization of diet, eating habits, food quality in a representative sample of the 1st year students of all North Eastern Federal University named after M.K. Ammosov faculties and institutes. Studying of existing nutrition disorders allowed investigating the initial state of health of students and identifying individual risk factors of diseases of the gastrointestinal tract.

The article presents the data about first mobile eye groups founded in Russia at the end of XIX for fight against trachoma that was a prototype of modern mobile crews for solving other problems. In order to approach the highly skilled ophthalmologic help to a residence of patients as well as to ensure its availability to any patient mobile operational modules on the basis of different types of transport were established. The similar module in the Republic of Sakha (Yakutia) was created in 2002 that allowed approaching the qualified ophthalmologic help to the population of remote areas of the republic, to reduce economic expenses and patient’s psycho emotional stress, and also to liquidate the list for planned treatment for cataract patients in RS (Y).

The treatment of patients with combined craniocerebral trauma (CCT) is associated with clinical difficulties, because its symptoms are very different from other combined trauma. Nowadays the standards in treatment of such patients are not developed fully. Earlier, in 1970-80 years both domestic and foreign researchers have proposed the different scales and schemes for the estimation of such injuries. The State Hospital No 1 named by Pirogov N.I. in Moscow is considered as a multiple trauma centre with powerful diagnostic and clinical base. The article deals with the analysis of disease histories of 400 patients with combined craniocerebral trauma which were treated in this hospital for last five years. The most of the patients was brought to the hospital for the first days after trauma. The quality of pre-hospital and clinical aid was assessed; the mistakes of Reception Department were analyzed. Based on the results of analysis the system of complex inspection of patients with high-energy trauma was embedded in the State Hospital No 1. The tactics of treatment of long bone fractures was performed depending on the severity of head injury. The computer tomography (CT) with the so-called program «combined injury» was embedded. It means the complex approach: patients, who received high-energy and heavy criminal injury, were examined by CT of the brain, chest and pelvis at the same time. It revealed that 13.7% of patients had fractures of the ribs, 8.3% of cases - fractures of the pelvis, 22.8% of cases - signs of brain injury. For the last 10 years the clinic actively applies the principle of one-stage surgical treatment by the participation of multiple surgical teams. Preliminary results of this study let us to conclude that using of this modern approach and sufficient technical equipment allow considering the head injury as not a contraindication to the active choice of tactics of treatment of fractures of long tubular bones.

We present the review of current literature on epidemiology and diagnostic challenges of osteoporosis in Russia and other countries. Abnormalities of peak bone mass formation are one of the risk factors of osteoporotic fractures. This review points out the importance of osteoporosis patient database creation, as well as reference database of mineral bone density on the regional level.