The review presents the basic principles of personalized medicine in neurology, based on personified diagnostics, including approaches related to the analysis of the human genome, as well as the use of other omics technologies, such as neuroproteomics, neurometabolomics. The importance of taking into account the patient’s individual indicators (biomarkers) for the most accurate and timely diagnosis, monitoring the effectiveness and safety of therapy (theranostics) is discussed. Information on microRNAs with promising diagnostic potential is presented. The importance of pharmacogenomic studies for predicting the effectiveness of therapy is emphasized. The information on the study of the brain connectome and the mapping of the brain network is shown, which opens up new possibilities for understanding the physiological and pathological processes in the nervous system. The existing difficulties in the development of personalized medicine today are indicated and the undoubted benefits of individualized approaches in neurology are emphasized.

Impaired metabolism is the cause of several health issues, such as obesity, diabetes, dyslipemia, polycistic ovary syndrome, hypertension and other cardiovascular complications, creating a growing concern worldwide and leading to diminished life expectancy. New strategies are needed to increase the efficacy of prevention and management of these diseases. Personalized nutrition aims to prevent and manage chronic diseases by tailoring dietary recommendations taking into account the interaction between an individual’s biology, lifestyle, behavior, and environment. The progress in genomics, metabolomics, and gut microbiome technologies has opened opportunities in the use of precision nutrition to prevent and manage metabolic diseases. This review describes the perspectives of nutrigenetics, deep phenotyping, microbiota profiling, family and personal clinical cues, and a wide spectrum of data concerning metabolic personalization through omics technologies (metabolomics, epigenomics, metagenomics, and others) in tailoring dietary and lifestyle advices as a part of the prevention and management programs targeting metabolic diseases. The review also discusses advances and challenges in analyzing and monitoring eating habits, eating behavior, physical activity, and deep phenotyping, as well as the examples of successful applications of computer programs to implement mobile applications with personalized nutrition techniques in clinical practice.

The review is devoted to the key component of plasma hemostasis — blood coagulation factor V. The structure of this protein and the F5 gene encoding it, its role in the hemostasis system, interaction with other coagulation factors and the natural anticulant protein C are considered. Particular attention is paid to the genetic defects of F5, which determine both hemorrhagic complications and a hereditary tendency to increased thrombus formation. Among the latter, the Leiden mutation of coagulation factor V (FV Leiden), which is hereditary thrombophilia and is considered as a risk factor for the development of venous thromboembolic complications, is described in detail.

Diagnosis of pulmonary embolism (PE), chronic thromboembolic pulmonary hypertension (CTEPH) and other prothrombotic complications remains a challenge due to various clinical manifestations. In recent years, numerous studies have focused on finding reliable biomarkers to confirm pathology. It was shown that microRNAs (miRNAs) regulate gene expression in a wide range of pathophysiological processes, and their profile can change in different cardiovascular diseases. miRNAs are involved in many biological processes, including proliferation, apoptosis and cell differentiation, and angiogenesis. Therefore, circulating miRNAs are considered as new biomarkers. The paper presents basic information on the role of microRNA in the genesis of PE and postthromboembolic complications.

The review discusses modern concepts of microbiota, its organization and significance for the functioning of the human body. The data on the significance of changes in the microbial composition in the case of dysbiosis and the strategies of a modern clinician aimed at restoring the microbial community inherent in each person are presented. The author’s position in relation to microbial therapy by means of exogenously grown microorganisms (probiotics, autoprobiotics and fecal transplantation) being introduced into the human body under conditions of dysbiosis are described.

Background. Because of the apparent frequency and impact on patients’ quality of life, it is important to investigate the emotional domain of neurosurgical patients with drug-resistant epilepsy. The objective of this study was to investigate gender-specific signs of depression and anxiety in neurosurgical patients with drug-resistant epilepsy.

Design and methods. In 2019–2020, Polenov Neurosurgical Institute studied comorbid emotional disturbances in 46 neurosurgical patients with drug-resistant epilepsy in two gender groups: Group 1 — male patients and Group 2 — female patients, using HADS, GAD-7, and Beck’s Depression Inventory in-depth screening.

Results. The mean age of participants in the study was 30.8 ± 7.1 years. The male-to-female ratio was 1.5 to 1. The disease lasted an average of 19.2 years, with a mean age of onset of 11.7 years. HADS: normal in 74 % and 61 % of cases, subclinical anxious/depressed in 10 % and 17 % of cases, and clinical anxious/depressed in 16 % and 22 % of cases, respectively. On the GAD-7 scale, 57 % and 50 % were minimally anxious, 25 % and 11 % mildly anxious, 7 % and 33 % moderately anxious and 11 % and 6 % severely anxious. On the Beck’s Depression Inventory, 50 % and 37 % had no depressive symptoms, 32 % and 26 % had mild depression, 7 % and 23 % had moderate depression, 7 % and 5 % had severe depression, and 4 % and 9 % had clinical depression. Personalisation of treatment approaches for patients with affective disorders is driven by two key points: the inclusion of medications with antidepressant and antianxiety effects in addition to AEDs, and consideration of the effect of a given AED on the emotional domain.

Conclusion. Among neurosurgical patients with drug-resistant epilepsy, patients without symptoms of anxiety and depression predominate in both male and female patients. In the long-term course of drug-resistant epilepsy, the gender differences in the emotional range of patients flatten out. There is a need to expand the sample and further investigate gender characteristics of neurosurgical patients in order to personalise the treatment of drug-resistant epilepsy.

Relevance. Currently, neuropsychiatric disorders are considered one of the main ones in the pathogenesis of postmastectomy syndrome. Modern neuroimaging techniques — functional (fMRI) and diffusion tensor (DTI) magnetic resonance imaging — allow us to identify functional and structural changes in the brain connectome in patients with postmastectomy syndrome caused by a complex of neuropsychiatric disorders.

The purpose of the study. To evaluate changes in the functional and structural connectome of the brain in patients with postmastectomy syndrome using fMRI and DTI techniques.

Materials and methods. The study was carried out on a tomograph with a magnetic field induction of 3.0 T. 46 patients with neurological disorders in the long-term postoperative period (more than 6 months) after radical mastectomy, chemotherapeutic and/or radiation treatment of breast cancer were examined.

Results. According to the results of the intergroup statistical analysis, all 46 patients with postmastectomy syndrome had differences in functional connectivity in the default mode network and quantitative fractional anisotropy in the white matter tracts of the brain compared with the control group (p < 0.01).

Conclusion. The use of fMRI and DTI in patients with postmastectomy syndrome makes it possible to identify changes in the brain connectome correlating with neurological disorders and a decrease in the quality of life of patients. The results obtained will allow improving treatment and rehabilitation approaches in patients receiving treatment for breast cancer.

Modern scientific research shows that often violations of the structure and function of the hippocampus can lead to the onset of epilepsy. The hippocampal formation and the amygdala are important anatomical structures involved in the development of local discharges of epileptiform activity and temporal lobe epilepsy. It accounts for up to 25 % of all epileptic syndromes, and among locally caused symptomatic epilepsy — up to 60–70 %. At the same time, temporal lobe epilepsy is considered as a pathology with an initial imbalance of excitatory and inhibitory mechanisms of the neocortex, which occurs under the influence of various endoand exogenous factors during early embryogenesis. The scientific literature presents various pathophysiological theories of exactly how the hippocampus is involved in the development of epileptic seizures. Anatomically, the hippocampus has a relatively poor blood supply, and inhibitory interneurons are deep intraparenchymal structures, making them more susceptible to factors such as hypoxia, ischemia, and oxidative stress. This article addresses issues related not only to changes in the structure and function of the hippocampus, but also aspects of neu rophysiological diagnosis and prognosis. In addition, an evidence base is provided on the possibility of achieving remission of seizures after the use of neurosurgical methods of treatment.

Introduction: Currently, the theory of the autoimmune nature of sarcoidosis is increasingly attracting attention. However, there are no clear criteria for autoimmune inflammation in this granulomatous disease, which makes it possible to determine the management tactics of patients with pulmonary sarcoidosis.

Materials and methods: In 2017–2019 a prospective comparative study was conducted with the inclusion of 187 people: group I (n = 114) — patients with pulmonary sarcoidosis; control group — healthy individuals (n = 73). Triggers were identified according to the questionnaire “Autoimmune syndrome induced by adjuvants”. Autoantibody levels in the blood were determined using enzyme immunoassay. Peripheral blood B-lymphocytes were examined using flow cytofluorometry. Statistical analysis was carried out using Statistica 10.0 by parametric and nonparametric statistical methods, differences or correlation indicators were considered significant at p ≤ 0.05.

Results of the study: triggers were significantly often detected in patients with the symptoms of the autoimmune process (88.5 % vs. 50.0 %, p = 0.042). Antibodies to modified citrullinated vimentin (a-MCV) were detected twice as often as in the control group (40.9 % and 25.0%, respectively). The increase in the level of CD5+CD27 B cells — more than 12.45 % and a change in the ratio of “naive” B cells to memory cells of more than 2:1 were diagnostically significant.

Conclusion: The criteria for autoimmune inflammation in patients with sarcoidosis is an increase in the level of anti-MCV more than 10 units / ml and the level of CD5+CD27— more than 12.45 % with a change in the ratio of “naive” B cells to memory cells in a ratio of 2:1. This complex has a high diagnostic sensitivity (91.0 %) and specificity (88.0 %).

Background. One of the possible options to intensify therapy in patients with high-risk malignant tumors is high-dose chemotherapy (HDCT) with autologous hematopoetic stem cell rescue. However, this method has a high risk of acute and delayed toxicity, and, sometimes doesn’t meet the expected effectiveness. This confirms the necessity of more considerate approach for choosing the category of patients for this therapeutic option with the determination of the most significant factors on the part of the patient and the type of malignant tumor.

Objective. Analysis of the results of HDCT with autologous hematopoetic stem cell transplantation (HSCT) in children with high-risk solid malignancies, conducted in the Department of pediatric oncohematology and BMT of the Federal State Budgetary Institution “V.A. Almazov National Medical Research Center”.

Design and methods. We perform a retrospective analysis of 55 cycles of HDCT with autologous hematopoetic stem cell rescue provided from 2017 to 2020 in 39 patients with high-risk malignant tumors. The toxicity and efficacy of the method were assessed taking into account the frequency of infectious complications, early post-transplant mortality, event-free (EFS) and overall survival (OS).

Results. The predominant category of patients were children with CNS tumors (61.5 %). Mean age of the patients was 2 years 9 months. At the time of HDCT 35.9% of patients were in complete remission (CR), 64.1 % had signs of active disease (AD). In 59% of patients, one course of HDCT was performed, in 41 % — tandem transplantation was performed according to the recommendations of the protocol for the treatment of the disease. The most common conditioning regimen was carboplatin + etoposide (27.3 %). The predominant source of hematopoietic stem cells were peripheral stem cells (87.3 %). The frequency of infectious complications in the post-transplant period was 100 %, neutropenic enterocolitis (61.8 %) and febrile neutropenia (34.5 %) were predominant. A high frequency of reactivation of CMV infection (25.4 %) was noted, meanwhile CMV disease occurred in 35.7 % of cases. The most important prognostic factor was the disease status at the time of HDCT. 2-year OS incidence of 85.7 % vs 65.3% and EFS 85.7 % vs 39 % in patients with CR and AD respectively. After completing the course of HDCT with autologous HSCT 94.8 % of patients continued anticancer therapy.

Conclusion. HDCT with autologous HSCT demonstrates a satisfactory toxicity profile and can improve OS and EFS in children with high-risk malignant tumors. A reliable prognostic factor that determines the effectiveness of the method is the disease status at the time of HDCT.

A rare clinical case of surgical treatment of a 60-year-old patient with acute compartment syndrome that developed in connection with a progressive spontaneous hematoma on the right leg is presented. The patient was hospitalized in the infectious diseases department of the Saint Petersburg “City Multidisciplinary Hospital № 2”for the treatment of coronavirus infection, which was complicated by bilateral polysegmental viral pneumonia and respiratory failure. During treatment, the patient complained of a large subcutaneous mass that developed in the area of the right popliteal fossa, which was moderately painful on palpation. Ultrasound duplex examination revealed a spontaneous intermuscular hematoma of the right leg measuring 10x10 cm without clinical signs of acute blood loss. Despite conservative treatment, the volume of the hematoma increased and spread to the muscle sheath of the posterior and anterior muscle groups of the right tibia. An acute compartment syndrome was diagnosed with signs of acute ischemia of the right lower limb of the IIA degree according to the classification of V. S. Saveliev, in connection with which an operative intervention was performed with a good result.