Transferability of the PRS estimates for height and BMI obtained from the European ethnic groups to the Western Russian populations.

Genetic data plays an increasingly important role in modern medicine. Decrease in the cost of sequencing with subsequent increase in imputation accuracy, and the accumulation of large amounts of high-quality genetic data enable the creation of polygenic risk scores (PRSs) to perform genotype-phenotype associations. The accuracy of phenotype prediction primarily depends on the overall trait heritability, Genome-wide association studies cohort size, and the similarity of genetic background between the base and the target cohort. Here we utilized 8,664 high coverage genomic samples collected across Russia by "Evogen", a Russian biomedical company, to evaluate the predictive power of PRSs based on summary statistics established on cohorts of European ancestry for basic phenotypic traits, namely height and BMI. We have demonstrated that the PRSs calculated for selected traits in three distinct Russian populations, recapitulate the predictive power from the original studies. This is evidence that GWAS summary statistics calculated on cohorts of European ancestry are transferable onto at least some ethnic groups in Russia.

[SeÑ differences in treatment of acute coronary syndrome patients. Data from federal registry of acute coronary syndrome 2016-2019].

INTRODUCTION: Management of patients with acute coronary syndrome (ACS) is usually universal, regardless of gender, age, and ethnicity. But often in practice, gender and age influence medical decisions, and patients do not receive proper medical care. Medical care for patients with ACS was analyzed by gender according to the federal register of ACS data. AIM: To analyze the influence of the patient's gender on the course of the disease and on the provision of medical care to patients with ACS who underwent treatment in 20162019. MATERIALS AND METHODS: The data of 95 586 cases was analyzed. Two groups were identified: men (n=59 442, 62.2%) and women (n=36 144, 57.8%). RESULTS: Anamnesis analysis has revealed, that women were often more burdened with concomitant diseases and had a higher risk on the GRACE scale at admission. It was demonstrated that men underwent revascularization on average significantly more often than women (51.9% versus 32.5%, respectively, p0.001). In women, conservative therapy was more. When compared with the appropriate use criteria for coronary revascularization, it was shown that more than 70% of women in whom a conservative treatment strategy was chosen, it was expedient to undergo myocardial revascularization using percutaneous coronary intervention. CONCLUSION: Gender differences were revealed in the course of the disease, as well as in the choice of treatment by doctors. Women are characterized by a later manifestation of the disease, more often in the form of ST-ACS. The course of the disease in women is associated with a higher comorbidity, atypical symptoms and later call for help. A conservative approach prevails in the choice of ACS treatment tactics in women.

[Rehabilitation in patients with chronic thromboembolic pulmonary hypertension].

For patients with pulmonary hypertension (PH) there have been no recommendations for physical rehabilitation for a long time, and in fact physical activity was discouraged. Nowadays, the position regarding exercise in patients with PH has changed studies have shown the safety and effectiveness of exercise in these patients. Most of the studies published to date on rehabilitation in patients with PH have assessed its effect on exercise tolerance. This review provides an overview of published studies and their conclusions on the effectiveness of rehabilitation in patients with chronic thromboembolic hypertension being as a complex therapy using medical and surgical methods of treatment and rehabilitation. The inclusion of rehabilitation in complex treatment allows to achieve patients highest possible tolerance to physical activity, increase in the functional class, quality of life and restore working capacity.

Balloon pulmonary angioplasty for patients with inoperable chronic thromboembolic pulmonary hypertension.

AIM: To evaluate the effectiveness of balloon pulmonary angioplasty (BPA) in patients with inoperable chronic thromboembolic pulmonary hypertension (CTEPH). MATERIALS AND METHODS: Forty patients with inoperable CTEPH were enrolled in this study. The indications were determined by multidisciplinary team. The average age of patients was 53.5 [43; 63] years. In 65% of cases patients had functional class III (according to WHO); the distance in the 6-minute walk test (6MWD) was 327 [280; 400] m; catheterization of the right heart revealed systolic pulmonary artery pressure (SPAP) 82 [64; 100] mm Hg, mean pulmonary artery (mPAP) 48.5 [38; 56] mm Hg, pulmonary vascular resistance (PVR) 784 [525; 1257] dyn·s/cm-5. Each patient underwent 6 BPA. RESULTS: The effectiveness of BPA was assessed 2 months after the last session. According to the data of right heart catheterization SPAP decreased by 27.3%, mPAP by 26%, PVR by 34.5% from baseline. After all series of BPA echocardiography and magnetic resonance imaging demonstrated reverse remodeling of the right heart. Also significant decrease in the level of BNP by 62%, increasing in 6MWD distance by 39% and improvement of the functional class up to I in 60% cases and up to II in 40% cases were noted. CONCLUSION: The results of the present study demonstrated a high efficacy of BPA allowing to normalize hemodynamic and clinical parameters, increasing the physical activity. Balloon pulmonary angioplasty is a new highly effective, safe method for treating patients with inoperable CTEPH.

[Cardiogenic shock in patients with acute coronary syndrome (data from Russian Federal Acute Coronary Syndrome Registry)].

Mortality in acute coronary syndrome (ACS) and its complications remains high, despite significant advances in the treatment of coronary heart disease and its complications. One of the most life - threatening complications of ACS is cardiogenic shock (CS). CS is an extreme degree of acute heart failure and develops on average in 5-8% of patients hospitalized with ACS. In the present work, we analyzed data from Russian Federal ACS Registry - frequency of CS occurrence, treatment methods, and outcomes of ACS complicated by CS. AIM: Assess the quality of medical care in patients with ACS, which complicated by CS, and its compliance with current clinical guidelines. MATERIALS AND METHODS: Data from patients with ACS were exported from the Russian Federal ACS Registry. The study analyzed the data of 29.736 patients with ACS entered into the registry system in the period from 01.01.2018 to 31.12.2018. Of the 29.736 patients with ACS, 824 patients were diagnosed with CS. To assess the quality of care provided to patients with ACS and CS, the main clinical gguidelines were used. RESULTS: The group of 824 patients with ACS and CS was analyzed. Among them patients with ACS with ST segment elevation prevailed - 77.8% (n=641). According to Russian Federal ACS Registry 44.3% (n=365) of patients with ACS and CS received conservative treatment, of which 58.6% (n=108) were with ACS with ST segment elevation. Percutaneous coronary intervention was performed in 39% (n=321) of patients, of whom 89.4% (n=271) of patients with ACS with ST segment elevation. According to the data of this study, thrombolytic therapy was performed in 26.5% (n=218) of patients. CONCLUSION: The data obtained demonstrated that patients with ACS and CS did not receive optimal medical care and their treatment does not fully comply with modern clinical guidelines.

Management of acute coronary syndrome in older adults (data from russian federal acute coronary syndrome registry).

AIM: In the present study was to investigate the quality of medical care for patients with acute coronary syndrome (ACS) old age and compliance of the treatment current guidelines. The data is exported from the system of the Federal register OKS. MATERIALS AND METHODS: Analyzed medical history 33 893 patients with ACS entered in the system registry of ACS for the period from 01.01.2016 to 31.12.2016. a comparison was made of the quality of care in patients with ACS elderly (75 years and older, n=8773) and in younger patients. RESULTS: The results of the study showed that in patients of senile age, when compared with younger patients, comorbid conditions are significantly more often observed, as well as a significantly higher risk of hospital and 6-month death, calculated on the GRACE scale. CONCLUSION: Patients of senile age with ACS are almost twice less likely to undergo percutaneous coronary interventions than younger ones, which worsens the prognosis in these patients and increases mortality.