Background. Vitamin D has been shown to reduce the risk of atherosclerosis development. Vitamin D receptors (VDRs) mediate the protective effects of vitamin D on immune inflammation in the vascular wall. Polymorphisms of the VDR gene are involved in the regulation of the stability of its mRNA. The carriage of some polymorphisms may affect the development of atherosclerosis.

Objective. To study the availability of vitamin D in patients with coronary artery disease (CAD) with various VDR polymorphisms.

Design and methods. The vitamin D level in blood serum was determined by enzyme immunoassay. The genotypes of the VDR gene were determined in 302 patients with CAD and in 196 patients without CAD by PCR.

Results. The level of vitamin D in patients with CAD was lower than in controls. The presence of the studied VDR polymorphisms was not associated with an increased risk of CAD. The content of vitamin D was higher in patients with the BB vs. bb genotype of the VDR gene (BsmI), in carriers of the AA vs. aa genotype (ApaI), in carriers of TT vs. tt genotype of the VDR gene (TaqI).

Conclusion. TaqI, FokI, ApaI and BsmI polymorphisms are not associated with the risk of CAD. Vitamin D level in the CAD patients with BB and AA genotype of the VDR gene was higher compare with bb and aa genotypes.

Background. One of the urgent problem of modern cardiology is the search for markers to assess the risk of CV (cardiovascular) events in patients with CAD.

Objective. To evaluate the level of von Willebrand factor (vWF) in the blood plasma of patients with early onset of CAD and the study of the relationship between vWF hyperproduction and the risk of recurrent CV events.

Design and methods. We examined 80 patients who underwent acute myocardial infarction and/or surgical treatment of CAD in the amount of percutaneous coronary intervention or coronary artery bypass surgery at the age of up to 55 years (men) and up to 60 years (women).

Results. The following predictors of an unfavorable course of coronary artery disease in the examined patients were identified: an increased level of vWF, a higher BMI, and hypoalphacholesterolemia at the inclusion in the study. Among patients with normal vWF, no adverse CV events were recorded after 2 years of observation. A number of factors included in the prognostic model for the development of a recurrent CV event were identified: vWF level, age, BMI, hyperglycemia, and carotid atherosclerosis. Model demonstrated 92.5 % agreement between the forecast and the observation.

Conclusions. Elevated plasma vWF levels may serve as an additional risk factor for the development of recurrent CV events in patients with early manifestations of CAD.

Background. In modern cardiology, 24-hour electrocardiogram (ECG) monitoring has a high diagnostic value, but this method has a number of disadvantages in detecting episodes of unstable life-threatening arrhythmias. An increase in ECG monitoring duration allows expanding the possibilities of diagnosing life-threatening arrhythmias.

Objective. To study the possibilities of long-term ECG monitoring (48–120 hours) in the detection of life-threatening arrhythmic events and parameters of myocardial electrical instability in patients with ST-segment elevation myocardial infarction (STEMI).

Design and methods. The study included 71 STEMI patients. All patients from the 4th day of STEMI underwent multi-day ECG monitoring in 3 leads using a telemetric ECG recording complex with an average recording duration of 90.4 ± 30.2 hours. The analysis of episodes of myocardial ischemia, rhythm and conduction disturbances, turbulence and heart rate variability, late ventricular potentials and dispersion of the QT interval within 5 days was carried out.

Results. Long-term monitoring allowed detecting high-grade ventricular extrasystoles. Analysis of episodes of myocardial ischemia in the postinfarction period revealed significant differences in the data of 120h-ECG monitoring in comparison with 24h-ECG. Multiday ECG monitoring made it possible to detect dysfunction of the autonomic regulation of cardiac activity in patients 2 times more often.

Conclusion. A comprehensive assessment of the possibilities of multi-day ECG monitoring is a promising direction in predicting severe arrhythmias in patients in the postinfarction period.

Background. Sarcomere protein genes such as MYBPC3, FLNC, TTN, RBM20 are associated with cardiomyopathies (CMP). A large number of rare genetic variants complicates the interpretation genetic studies and assessing the pathogenicity. Moreover, there is a lack of an information about rare variants frequency in a healthy Russian population. Polymorphisms in these genes often act as modifiers, aggravating the clinical course of CMP caused by mutations in other genes.

Objective. To compare the frequency of rare (less than 0.1 %) missense and truncating variants in the TTN, FLNC, MYBPC3, RBM20 genes in the patients with CMP and in the general population.

Design and methods. The CMP group included 251 patients. The control group included 192 men (from the ESSE-RF study). A molecular genetic examination was performed using high-processive sequencing technology, followed by verification by Sanger sequencing.

Results. The frequency of truncating variants in the genes TTN, FLNC, MYBPC3, RBM20 in the group with CMP was 7.17 %, and missense variants — 56.6 %: 11.5 % were pathogenic/likely pathogenic, 39.5 % — variants of uncertain significance, 49 % — probably benign/benign. The frequency of truncating variants in the TTN, FLNC, MYBPC3, RBM20 genes in the control group was 0.52 %, and the frequency of missense variants was 15.1 %: 38 % were variants of uncertain significance, 62 % — probably benign/benign.

Conclusion. Frequency of missense and truncating variants with a frequency of less than 0.1 % in the TTN, FLNC, MYBPC3, RBM20 genes was increased in the group of patients with CMP.

Background. Post-mastectomy syndrome is a complex of symptoms that occurs in at least 80 % of women after treatment for breast cancer. The analysis of neurological disorders occurring in patients after antitumor treatment will increase the effectiveness of rehabilitation measures.

Objective. To perform a clinical and neuropsychological assessment of the condition of patients with post-mastectomy syndrome.

Design and methods. An open single-center uncontrolled study of the assessment of clinical and neuropsychological status in 45 patients with post-mastectomy syndrome was performed.

Results. The components of the post-mastectomy syndrome are described, which, along with lymphedema of the upper limb, have a negative impact on the general health condition of the patients, lead to a violation of the psychosocial status, impaired adaptation and decreased life quality. In the clinical picture, a disorder of motor functions with a decrease in muscle tone, muscle strength, restriction of movements in the shoulder joint on the side of the operation, a violation of surface sensitivity on the medial surface of the shoulder was revealed.

Conclusion. Studied patients developed anterior scalenus muscle syndrome (thoracic outlet syndrome), in the clinical picture manifested by pain, swelling, paresthesia and numbness of the upper limb on the side of the operation. Cerebrovascular disorders were manifested by vertebro-basilar insufficiency syndrome, which manifested in the form of headaches, dizziness, cognitive and emotional disorders.

Background. Cerebral tissue oximetry (rSO₂) can be used to assess cerebral circulation. Cerebral tissue oximetry studies have been performed in the Trendelenburg position (30º), but data for 45 o are not available.

Objective. To study the effect of the Trendelenburg position (45°) under carboxyperitoneum conditions on rSO₂ and hemodynamic parameters.

Design and methods. A single-center, prospective, descriptive study was conducted among patients (n = 30) who underwent robot-assisted laparoscopic prostatectomy. We measured rSO₂ on the left and right, central venous pressure (CVP), mean arterial pressure (MAP), venous saturation at points: T1 — after induction of anesthesia and start of measurements; T2 — 5 minutes after positioning the patient in the Trendelenburg position of 45^o; T3 — 15 minutes; T4 — 30 minutes; T5 — after returning to a horizontal position. Cerebral perfusion was assessed using cerebral perfusion pressure (CPP).

Results. rSO₂ on the right and left at points T2, T3 and T5 significantly exceeded T1. There was a significant increase in BP mean at T2 and T3, as well as a significant increase in CVP at T2, T3 and T4 compared to T1. The CPP significantly decreased compared to T1 at points T3, T4 and T5.

Conclusions. The Trendelenburg position with a tilt angle of 45º in combination with carboxyperitoneum is accompanied by an increase in rSO₂, blood pressure and CVP.

Radiogenomics is a novel and promising field connecting a variety of imaging possibilities with various genomic events. Advances in genomics provided by the Cancer Genome Atlas and Human Genome projects made it possible to integrate this information with imaging phenotypes of malignant brain tumors for a more detailed understanding of their biology. Radiomics, in turn, lies at the intersection of radiology, computer science and mathematical statistics. Unlike radiogenomics, it does not focus on the specific relationship between the radiophenotype and tumor genotype, but rather identifies the analysis methodology. With its help, quantitative features are extracted from medical images, establishing patient’s genotype-phenotype correlation. This contributes to the risk stratification and patient management. The article discusses some topical aspects of radiomics and radiogenomics of glioblastomas and their application in neurooncology.

Previously, several groups of researchers showed the relationship between visualization features of glioblastomas and the prognosis of the course of the disease.

One of the modern problems of radiomics is the search for imaging features that can serve as key prognostic markers for risk stratification of patients with glioblastomas using machine learning tools.

Thus, the prospects for the development of radiomics and radiogenomics methods include predicting patient survival, differential diagnosis of glioblastomas, determining the degree of malignancy, identifying mutations and amplifications, detecting tumor progression, pseudoprogression, etc.

Background. Valve-sparing aortic root replacement with aortic valve reimplantation is a rapidly developing method of treatment of ascending aortic aneurysm. The improvement of the results of this method is inextricably linked with the understanding of the relationships between the initial functional and planimetric characteristics of the valvular-aortic complex, the technical aspects of the reimplantation procedure and the results obtained.

Objective. To search and analyze previously little-studied factors — the planimetric characteristics of the aortic valve and the aortic root.

Design and methods. High-precision assessment of the planimetry of the aortic flaps requires precision visualization methods and subsequent creation of virtual three-dimensional models. The creation of high-precision reconstructions became possible due to the introduction of specialized computer-aided design environments into clinical practice. Due to the technical complexity, none of the known methods has previously been used to accurately measure all the structures of the aortic root in a large group of patients. Simplification, acceleration of reconstruction construction, as well as scaling of this technique remain unresolved tasks.

Results. The main result of this work is the development of an algorithm of segmentation of the aortic root and the construction of a high-precision three-dimensional model of the aortic valve, as well as the practical implementation of an algorithm for determining main planimetric parameters of the aortic root with the possibility of scaling to a large group of patients.

Conclusion. The method makes it possible to construct a high-precision three-dimensional reconstruction of the internal structures of the aortic root within a few hours and is valuable both for determining the tactics and technical features of surgical treatment of the patient, and for studying the effect of the anatomy of the aortic root on the development of recurrence of aortic insufficiency after valve-sparing surgery.