Репозиторий Университета

Copyright © 2018 by the MediaSphere. MODY3 is one of the most common subtypes of MODY. Obesity in MODY3 patients modifies the disease course and complicates diagnostics at the clinical stage. A proband was diagnosed with type 2 diabetes mellitus (T2DM) at the age of 12 years; metformin therapy was used. A family history of DM involves three generations: The mother, aunt, and maternal grandfather have suffered from insulin-dependent DM since the age of 23, 22, and 40 years, respectively. The patient was examined at the age of 14 years. Obesity was present (SDS BMI 2.3). The insulin and C-peptide levels were 4.4 μU/mL and 1.5 ng/mL, respectively. The HbA1c level was 7.3%. Under glucose load, glycemia reached diabetic values; hyperinsulinemia and insulin resistance were not detected. Specific pancreatic antibodies were absent. Metformin was discontinued, and a sulfonylurea (SU) drug was prescribed, which had a positive effect. The heterozygous mutation p.P291fs was identified in the HNF1A gene. Therefore, MODY3 was verified. The presence of concomitant obesity in the patient significantly complicates the differential diagnosis, and only a careful comprehensive analysis of clinical and laboratory parameters and a family history makes it possible to suspect the diagnosis of MODY3 (requiring subsequent molecular genetic verification) and prescribe pathogenetic therapy.

© COPYRIGHT SPIE. Downloading of the abstract is permitted for personal use only. Light field intensity distribution in three-dimensional polylactide scaffolds after irradiation with low-intensity light from one side of the samples has been determined in the visible and near-infrared regions of the spectrum. Two different types of scaffolds manufactured by the methods of supercritical fluid foaming and surface selective laser sintering have been investigated. The problem is solved by numerical calculation according to the Monte Carlo method involving experimentally obtained information about effective optical parameters of the scaffold material. Information about intensity distribution of the incident light in the matrix volume is needed to assess the radiation level for the scaffold cells after photobiostimulation. It has been shown that the formation of the light field in case of strongly scattering media, such as polylactide scaffolds, is determined by anisotropy g and the scattering coefficient μs.

© 2018, Stolichnaya Izdatelskaya Kompaniya. The aim of the review is presenting the possibilities and perspectives of the third generation of thienopyridine P2Y12 receptor inhibitor prasugrel in the treatment of patients with acute coronary syndrome (ACS). The main pathogenetic stage of ACS is intracoronary thrombosis, which develops on the surface of a damaged atherosclerotic plaque. The use of acetylsalicylic acid with addition of the second antiplatelet agent, so-called dual antiplatelet therapy, is a standard component in the treatment of any type of ACS, regardless of reperfusion and the selected treatment strategy. Due to some limitations in the use of clopidogrel as the second component of dual antiplatelet therapy, the possibility of prasugrel or ticagrelor usage should be considered in patients with ACS with percutaneous coronary intervention (PCI). Prasugrel therapy is associated with better clinical outcomes as compared with clopidogrel therapy in moderate or high-risk patients who undergo PCI. Because of higher bleeding risk and the lack of clinical benefits in special subgroups of patients, prasugrel must not be used in patients with a stroke or transient ischemic attack in the past. If, after a thorough individual benefit-risk assessment a decision is in favor of prescribing prasugrel to the patient older than 75 years or with a small body weight the maintenance dose of prasugrel is to be reduced by half. Real clinical practice data has shown that with following these recommendations prasugrel demonstrates optimal efficacy, safety, and even more significant impact on the prognosis than this in clinical trials. Prasugrel is able to reduce significantly the incidence of cardiovascular events such as cardiovascular death, myocardial infarction and stroke in patients with ACS who undergo PCI.

© 2018 Ima-Press Publishing House. All rights reserved. Many physicians have difficulty managing patients with vertigo. Incorrect routine diagnoses are frequently made in patients with peripheral vestibulopathy, which makes therapy fail. Most cases of vestibular vertigo are caused by peripheral vestibular disorders (otolithiasis, hydrops, neuronitis). Rehabilitation maneuvers are effective in the treatment of benign paroxysmal positional dizziness; salt-free diet, diuretics, and betahistine dihydrochloride are for Mnire's disease (syndrome); vestibular rehabilitation is for vestibular neuronitis. Betahistine dihydrochloride is most effective among all the medicines used in different causes of vestibular vertigo, including that of unclear origin. The paper gives the positive experience with betahistine made in Russia for vestibular vertigo.

© 2018 Stavropol State Medical University. All rights reserved. The review considers the basic principles of recovery after exercise in professional and amateur sports. Restoration of the body is the return of physical parameters to the initial values, increasing the adaptive capacity after performing physical work. Proper recovery after exercise helps avoid problems such as physical fatigue, lack of nutrient intake, injuries of various severity, dehydration, etc. A number of factors influence the human body during recovery: a balanced diet, adequate rest and sleep, psychological and emotional unloading, gymnastics, massage, contrast shower and others. Comprehensive rehabilitation programs in sports should include methods with proven effectiveness, take into account the individual characteristics of the athlete and the dominant form of physical activity, and consider the recovery period as an integral part of the entire training plan.

© 2018 Stavropol State Medical University. All rights reserved. Activity of CYP3A4 cytochrome P450 was examined in 90 patients with I-III functional classes of chronic heart failure (CHF) before and after the seven-day intravenous administration of Ethylmethylhydroxypyryridine malate (Ethoxidol) 100 mg/day. There was a statistically significant increase of CYP3A4 cytochrome P450 activity evaluated by urinary 6-β-hydroxycortisol/cortisol ratio in patients with I, II and III functional classes of CHF after seven day intravenous administration of 100 mg/day Ethylmethylhydroxypyryridine malate.

© by Irina Ovchinnikova 2018. The paper presents analysis of the hesitations in adolescents' narratives. The speech disfluencies in the adolescents differ from those of the adults by frequency of self-corrections and pauses of hesitation. The adolescents rarely turn to repair their narratives but often interrupt the speech flow by pauses while telling a story stimulated by a wordless book. The lack of self-corrections reflects the specific problems with self-control and self-regulation due to immaturity of the executive function. Narrating about a complex multi-propositional event, the adolescents often experienced hesitation that provoked more self-repairs and hesitation pauses compared to the telling the story about a simple event. The description of the relatively simple content was more complicated syntactically than that of the multi-propositional event. Meanwhile, the content complexity significantly influences frequency of the silent hesitation pauses.

© Russian Association of Endocrinologists, 2018. This review examined the current problem of low adherence to treatment in patients with chronic diseases, particularly type 2 diabetes mellitus. According to the definition of the World Health Organization, 'adherence to treatment' is the degree to which a patient's behaviour corresponds to the doctor's recommendations with respect to medications and implementation of dietary advice and/or lifestyle changes. The current medical literature includes a large number of scientific publications devoted to the study of various factors that lead to low adherence to treatment. The term 'barriers' is most often used to designate these factors. The first part of this work contains an analysis of the main factors that impede compliance to the doctor's recommendations, such as socioeconomic and psychological (personal) barriers related to the disease itself, the peculiarities of its treatment and the organisation of medical care (the health care system). The second part of this review examines the different theoretical models of patient behaviour and strategies that improve adherence to treatment. Most researchers believe that there is an unsatisfactory (low) adherence to treatment and that none of the existing intervention strategies can improve adherence to treatment among all patients. The cornerstone of the entire diabetes management system is the training of patients within the framework of developed structured programmes. Conversely, success depends on the individual approach, the course of the disease and the mandatory consideration of the individual psychological characteristics of each person. Establishment of a partnership built on trust between a doctor and a patient contributes to greater patient satisfaction with treatment and improved adherence, and this relationship ultimately affects the treatment efficacy and clinical outcomes.

Copyright © 2018 Institute of Computer Science. The paper proposes a mathematical model for the therapy of glioma, taking into account the blood-brain barrier, radiotherapy and antibody therapy. The parameters were estimated from experimental data and the evaluation of the effect of parameter values on the effectiveness of treatment and the prognosis of the disease were obtained. The possible variants of sequential use of radiotherapy and the effect of antibodies have been explored. The combined use of radiotherapy with intravenous administration of mab Cx43 leads to a potentiation of the therapeutic effect in glioma. Radiotherapy must precede chemotherapy, as radio exposure reduces the barrier function of endothelial cells. Endothelial cells of the brain vessels fit tightly to each other. Between their walls are formed so-called tight contacts, whose role in the provision of BBB is that they prevent the penetration into the brain tissue of various undesirable substances from the bloodstream. Dense contacts between endothelial cells block the intercellular passive transport. The mathematical model consists of a continuous part and a discrete one. Experimental data on the volume of glioma show the following interesting dynamics: after cessation of radio exposure, tumor growth does not resume immediately, but there is some time interval during which glioma does not grow. Glioma cells are divided into two groups. The first group is living cells that divide as fast as possible. The second group is cells affected by radiation. As a measure of the health of the blood-brain barrier system, the ratios of the number of BBB cells at the current moment to the number of cells at rest, that is, on average healthy state, are chosen. The continuous part of the model includes a description of the division of both types of glioma cells, the recovery of BBB cells, and the dynamics of the drug. Reducing the number of well-functioning BBB cells facilitates the penetration of the drug to brain cells, that is, enhances the action of the drug. At the same time, the rate of division of glioma cells does not increase, since it is limited not by the deficiency of nutrients available to cells, but by the internal mechanisms of the cell. The discrete part of the mathematical model includes the operator of radio interaction, which is applied to the indicator of BBB and to glial cells. Within the framework of the mathematical model of treatment of a cancer tumor (glioma), the problem of optimal control with phase constraints is solved. The patient's condition is described by two variables: the volume of the tumor and the condition of the BBB. The phase constraints delineate a certain area in the space of these indicators, which we call the survival area. Our task is to find such treatment strategies that minimize the time of treatment, maximize the patient's rest time, and at the same time allow state indicators not to exceed the permitted limits. Since the task of survival is to maximize the patient's lifespan, it is precisely such treatment strategies that return the indicators to their original position (and we see periodic trajectories on the graphs). Periodic trajectories indicate that the deadly disease is translated into a chronic one.

© 2018 Media Sphera Publishing Group. All Rights Reserved. Surgical treatment of posterior cranial fossa and cerebellopontine angle tumors is associated with a risk of facial nerve dysfunction. The causes for facial muscle paresis include nerve compression by the tumor, destruction of the nerve structure by the tumor growing from nerve fibers, nerve injury during surgical removal of the tumor, etc. The first 3 months after facial nerve injury are a potential therapeutic window for the use of botulinum toxin type A (BTA). During this period, the drug is introduced both in the healthy side to improve the facial symmetry at rest and during mimetic movements and in the affected side to induce drug-induced ptosis. Post-paralytic syndrome develops 4-6 months after facial nerve injury. At this stage, administration of BTA is also an effective procedure; in this case, drug injections are performed on the affected side at small doses and symmetrically on the healthy side at doses doubling those for the affected side. BTA injections are mandatory in complex treatment of facial muscle paralysis.

© 2018 Media Sphera Publishing Group. All rights reserved. The objective of the present study was to elucidate the peculiar morphological features of the blood stains on the snow over of different density. We have undertaken the modeling and investigation of the blood stains on the loose snow cover (ρ=0.35±0.03 g/cm3) and at the areas of snow compacted by a motor-vehicle wheel (ρ=0.96±0.03 g/cm3) with the use of the visual, metric, descriptive, and statistical methods. The analysis of the blood stain patterns on the loose snow showed that a blood drop tends to form a depressed cylindrical canal at the bottom of which an irregularly shaped spherical element can be seen; it is composed of small snow crystals soaked with blood. The upper end of the canal has the fine-scalloped edge tending to shed unevenly. The morphological picture of the blood stains at the compacted snow cover is similar to that on the hard wettable rough surfaces; they have the oval shape and the unevenly serrated edge with the well apparent signs of sputtering.at the periphery.

© 2018 Media Sphera Publishing Group. All rights reserved. The present article was designed to summarize the results of the 20 year scientific, practical, and educational activities of the Department of Forensic Medicine, I.M. Sechenov First Moscow State Medical University (Sechenovsky University). The main directions of the research work and achievements of the Department's staff are described, and the prospects for its further development are highlighted. The new approaches to and technologies for the teaching and training specialists in forensic medicine are introduced to meet the novel requirements imposed in the framework of the ongoing reform of higher medical education in accordance with the main principles of the Bologna declaration.

© 2018 Media Sphera Publishing Group. All rights reserved. The objective of the present study was the development of the diagnostic model for determining the human age based on the results of the comprehensive examination of the 230 thyroid cartilages (TC) obtained from the corpses of men and women of different age. TC were examined with the use of the anthropometric, X-ray, and histological methods. The anthropometric investigations confirmed the gender-related differences in the structure of human TC. Various characteristics of TC were shown to correlate with the age but these relationships were rather weak even if formally significant. The X-ray studies of TC have revealed the significant correlation of the relative amount of the bone tissue on the images with the age (r=0.8). Of the 27 parameters subjected to the morphometric evaluation, the following ones were shown to significantly correlates with the age: percentage of the bony (r=0,82) and cartilaginous (r=-0.8) tissue areas, average density of the adipose (r=0.76) and reticular (r=0.7) tissues, the maximum length of trabeculae (r=0.67), the width of the mature cartilage zone (r=0.54), the cortical plate thickness (r=0.5), and the mean number of immature chondrocytes in the field of vision (r=0.5). The comprehensive investigation into the structure of the human thyroid cartilage provided a basis for the development of the method for determining the human age with the use of the linear regression equations. It is concluded that the proposed method can be employed as an additional diagnostic tool for determining the human age for the purposes of forensic medical expertise and personality identification.

© 2018, Indian Journal of Public Health Research and Development. All rights reserved. Study design: randomized controlled before-and-after and in follow-up trial. Forty-six CAD patients volunteered to take part in the study: a group of 27 patients undertook an Intermittent Hypoxia (O2 at 10%) - Hyperoxia (O2 at 30%) Training (IHHT), while a control group (CTRL) of 19 patients was allocated to sham IHHT treatment (breathing via face mask by room air, O2 at 21%). Exercise performance, blood and metabolic profile, quality of life (MOS SF-36, Seattle Angina Questionnaire, SAQ) were measured before and after IHHT/sham IHHT in both groups; the intervention group was also assessed one month after completing the IHHT. The IHHT intervention group showed improved exercise capacity (+1,8 ml O2/min/kg, p=0,02), reduced resting systolic and diastolic blood pressures (151/85 before vs 130/73 after p<0,01), enhanced Left Ventricle Ejection Fraction (62,6±5,5% vs 58±6,2%, p<0,01), glycemia was significantly reduced only at 1-month follow-up (6,18±1,7 after vs 7,10±2,34 mmol/l at baseline, p=0,037). Frequency of angina as reason to stop exercising was significantly reduced after treatment and at 1-month follow-up. In CAD patients an Intermittent Hypoxia-Hyperoxia Training program is associated with improved exercise tolerance, risks factors profile and quality of life (SF-36, SAQ). IHHT has proved to be safe, well tolerable and easily applicable in cardiac patients.

© 2018 Ima-Press Publishing House. All rights reserved. The paper considers the modern concepts of the etiology and pathogenesis of psoriatic arthritis (PsA). The latter is currently indicated as a T-cell-mediated disease that is based on the activation of cellular immunity, followed by the hyperproduction and imbalance of key pro- A nd anti-inflammatory cytokines, such as tumor necrosis factor-α (TNF-α), interleukin-1â (IL-1â), IL-6, IL-12/23, and IL-17. The paper presents the basic principles of diagnosis and clinical manifestations of the disease and notes the importance of screening questionnaires, the use of which allows specialists to diagnose PsA early, by actively identifying articular complaints, the characteristic clinical and radiological signs of damage to the joint, spine, and entheses. It is pointed out that the key target of pharmacotherapy for PsA is to achieve remission or minimal activity of the main clinical manifestations of the disease, to slow down or prevent its radiographic progression, to increase the length and quality of life in patients, and to reduce the risk of comorbidities. The authors characterize the major groups of used drugs: Nonsteroidal anti-inflammatory drugs, conventional and targeted synthetic disease-modifying antirheumatic drugs, and biological drugs (inhibitors of TNF-α, IL-12/23, and IL-17). The key Treat-to-target principles of patient management are considered; it is noted that strict control over disease activity and treatment results provides suppression of all major clinical manifestations of PsA. The paper also shows the basic principles of the creation and further development of the All-Russian Registry of PsA patients, which makes it possible to optimize management decision-making on the provision of high-tech medical care and drugs for this cohort of patients.

© 2018 Tomsk State University. All Rights Reserved.  Sanguinarine is a benzophenanthridine alkaloid with antimicrobial, antiviral, antiparasitic, anti-inflammatory, antiplatelet, antiangiogenic, and antitumor activity. One of the important properties of sanguinarine is a pronounced ability to suppress thrombogenesis, tumor growth and metastasis. However, the low solubility of sanguinarine in biological fluids limits its medical use. The present research was devoted to the development of the liposomal form of sanguinarine and the study of its biological activity. We obtained liposomes with sanguinarine on the basis of lecithin and cholesterol by the method of hydration of a thin film with buffer, followed by sonication and extrusion through a polycarbonate membrane with a pore size of 100 nm. Purification of liposomal dispersion from a drug that was not included in the vesicles was performed by gel filtration chromatography. We studied the morphology of the obtained liposomal particles by scanning electron microscopy; particle size and zeta potential were determined by dynamic light scattering. The study of the dynamics of sanguinarine release was conducted using the method of dialysis; quantitative analysis of the released sanguinarine from liposomes was performed using reverse-phase HPLC. The cytotoxic activity (CTA) of liposomal preparation against tumor cells of human breast carcinoma MCF-7 line was determined by the MTT assay. The toxicity and biological effects of liposomal sanguinarine on the cultures of Paramecium caudatum Ehrenberg and Tetrahymena pyriformis WH1, as well as the study of the effect of the drug on the complement system, were evaluated using the automated video registration system “BioLaT” (Russia). According to electron microscopy data, the obtained liposomes were spherical nanosized particles (See Fig. 1). The mean size of the obtained liposomal particles with sanguinarine included in their composition, determined using the method of the dynamic light scattering, was 108.5±2.2 nm, and the zeta potential was –34.7±1.4 mV. The effectiveness of sanguinarine inclusion in liposomes was quite high and amounted to 72.8±4.8%. The study of the dynamics of sanguinarine release from liposomes in conditions close to physiological (pH 7.4; 37°C) showed that this process occurs at the highest rate in the first 2 h of incubation. Then, the process is prolonged (release of about 50% sanguinarine after 6 h of incubation, and about 93% after 70 h) (See Fig. 2). Liposomal sanguinarine showed dose-dependent cytotoxic activity against tumor cells of human carcinoma MCF-7 in the micromolar concentration range (Seе Fig. 3). The CTA of liposomal sanguinarine (IC 50 14.5 mM) was slightly lower than the activity of free sanguinarine (IC 50 9.4 mM), which can be explained by the prolonged release of sanguinarine from liposomes into the cell medium, as well as by the specificity of compartmentalization and intracellular release of the drug when it is absorbed by tumor cells by endocytosis. The prolonged release and the property of preferential accumulation of liposomes in tumor tissue can have a positive effect on therapeutic efficacy in the application of liposomal sanguinarine in vivo. The effect of liposomal sanguinarine on the survival of P. caudatum ciliates was dose-dependent (See Fig. 4). The minimum inhibitory concentration of liposomal sanguinarine was 0.49 mM. At concentrations from 0.245 mM and below, the drug did not cause cell death for 2 h; over the next 24 h, the death of the ciliates was neither observed. Thus, liposomal sanguinarine has a pronounced cytotoxic effect on P. caudatum, a representative of the protozoa, which can serve as the basis for the development of antiprotozoal drugs. To identify pathogenic Protozoa species spectrum vulnerable to the action of liposomal sanguinarine, additional research is required. We also assessed the influence of liposomal sanguinarine on the protective blood systems - coagulation and the complement system. The effect of liposomal sanguinarine on thrombus formation in vitro was evaluated in citrate plasma after its recalcification according to the time of the onset of thrombus formation and the resulting clot density (See Fig. 5). The clot size in plasma solutions with the addition of the drug was significantly smaller compared with the control. At the same time, liposomal sanguinarine induces the formation of a clot after 7 min of incubation, whereas in the control the formation of a clot begins only after 14 min of incubation. Thus, under the conditions of this experiment, liposomal sanguinarine had a pronounced stimulating effect on thrombus formation. Stimulation of thrombosis by liposomal sanguinarine can be caused both by direct activation of coagulation enzymes and by the induction of enzymatic reactions of the coagulation system, which can efficiently proceed on the surface of liposomal nanoparticles. The study of the effect of liposomal sanguinarine in a non-toxic concentration of 60 ng/ml on the functional activity of the complement system against T. pyriformis ciliates showed that the half-life of the ciliates as a target of the complement system in the medium containing serum and liposomal sanguinarine (T 50 21.7 min) reduced approximately twice compared with the control (T 50 41.6 min) (See Fig. 6). In the absence of serum in the samples, liposomal sanguinarine at a concentration of 60 ng/ml, on the contrary, had a stimulating effect on T. pyriformis growth - the value of the proliferation coefficient for native cells was 2.1±0.2, and for the treated cells it was 6.4±0.8. The obtained data may indicate the activating effect of liposomal sanguinarine with respect to the assembly of the membrane attack complex of the complement system on the surface of T. pyriformis cells, causing their death. This effect allows to envisage the prospect of using liposomal sanguinarine as an immunostimulating agent. Thus, the pronounced cytotoxic antitumor and antiprotozoal activity, demonstrated in experiments in vitro, makes it possible to consider liposomal sanguinarine as a promising antitumor and antiprotozoal agent. The detected effect of thrombosis stimulation by liposomal sanguinarine seems to be important when selecting the dose of the drug introduced into the bloodstream.

© 2018 Ima-Press Publishing House. All Rights Reserved. Up to 15% of patients with secondary brain tumors of unknown primary are admitted to a neurosurgery department. Identification of a primary tumor site on the basis of surgical material immunophenotyping in routine clinical practice has a significant potential; however, this requires systematization. Objective: to detect the primary focus of brain carcinoma. Patients and methods: Surgical specimens from 7 patients with brain tumor of unknown primary were investigated using light optical microscopy and an immunohistochemical (IHC) panel including EMA, CK AE1/3, CK7, CK5/6, GFAP, S-100, Vimentin, p63, TTF-1, Uroplakin III (UPIII), CDX2, and Her2/neu. Results and discussion: A study using the IHC panel made it possible to obtain the following tumor phenotypes in the patients: CK5/6+, p63+, CK7+, UPIII+ (urothelial cancer) (n=3); CK5/6-, CK7+, TTF-1+, CDX2- (lung adenocarcinoma) (n=2); CK5/6+, p63+, CK7-, UPIII, TTF-1- (squamous cell carcinoma) (n=1), and CK5/6-, CK7+, TTF-1-, CDX2-, Her2/neu+ (breast cancer) (n=1). Evidence of the primary focus of the tumors was subsequently confirmed by instrumental techniques in all cases when cancer of the breast, lung and urinary system was directly sought. The findings were used to elaborate an algorithm for the differential diagnostic immunophenotyping of brain metastases. Conclusion: The primary focus of brain carcinoma was detected in all cases on the proposed IHC panel. The systematized algorithm for differential diagnostic immunophenotyping can be used in clinical practice.

© 2018 Ima-Press Publishing House. All Rights Reserved. This review provides information on prospects for using the antidepressant agomelatine in neurological practice. The drug has a unique receptor profile, being a melatonin receptor type 1 and 2 agonist and a serotonin receptor subtype 2C antagonist. Due to this and in addition to antidepressant action, the drug has a number of other effects, such as analgesic, anti-apathetic, anti-asthenic, procognitive, anxiolytic, and sleep-normalizing ones, which are of great importance in the treatment of neurological diseases. There are clinical and experimental data that prove the high efficiency and safety of agomelatin in the follow-up of patients with post-stroke depression, Parkinson's disease, Alzheimer's disease, Pick's disease, Huntington's disease, chronic fatigue syndrome, and pain syndromes.

© 2018 Vladimir A. Chistyakov, Alexander V. Usatov, Aleksander I. Klimenko, Maria A. Kolosova, Eugenia V. The abundance of potential genotoxins makes it necessary to improve microbial test systems that allow to identify these substances quickly. At the same time, the methodology of metabolic activation of promutagens in vitro is very important. Microsomal preparations of rodents, which are generally used for that, have significant disadvantages associated with the potential health risks of the inducers of the metabolism of microsomal cytochromes. For the metabolic activation of promutagens, we have developed a protocol of microsomal homogenate fraction (S-9) preparation. We propose to complement the set of methods for quality control of feeds for valuable and rare chicken breeds with the Ames test (Salmonella/microsome) using the activated chicken hepatic S-9 homogenate fraction.

© 2018 S. Karger AG.All right reserved. Atypical hemolytic-uremic syndrome is a rare life-threatening disease from the group of thrombotic microangiopathies, caused by the hyperactivation of the complement system. In the most cases it is associated with genetic disorders in the cluster of complement genes. Currently, a large number of different variants of the complement system genes associated with the development of aHUS are described in different countries. In our country, data on the genetic features of pediatric aHUS patients and obstetric aHUS have been published. Genetic changes in the complement system in adult aHUS patients in Russia were not so far presented. Aim: studying the genetic profile of the complement system in adult patients with aHUS. Materials and methods. The study included 20 patients with aHUS: 9 men (45%) and 11 women (55%). All patients underwent molecular-genetic analysis (search for mutations in the clinically significant part of the human genome − exome) by sequencing (Genotek laboratory). Genes CFH, CFHR1-5, CFB, CFI, DGKE, THBD, MCP, C3, С5, ADAMTS13 were analyzed. Results. Genetic variants (mutations) of the complement system associated with aHUS development were detected in 5 patients (25%). Two patients had one mutation, 2 patients − 2 and one patient - 3 mutations. In 3 patients, different genetic variants of the C3 gene were found. Two patients showed the same changes in the CFHR5 gene. In 3 patients, rare changes in the ADAMTS-13 gene, clinically associated with the development of thrombotic thrombocytopenic purpura were found. In all 20 patients, genetic variants of the complement genes with unknown clinical significance were identified, including rare variants of the C3 gene in 9 patients (45%).