A5071659321- Pulmonary Hypertension Research and Treatments
- Prenatal Screening and Diagnostics
- Healthcare Systems and Public Health
- Fetal and Pediatric Neurological Disorders
- Acute Myocardial Infarction Research
- Genomic variations and chromosomal abnormalities
- Heart Rate Variability and Autonomic Control
- Genomics and Rare Diseases
- BRCA gene mutations in cancer
- Cardiovascular Function and Risk Factors
- Genetic factors in colorectal cancer
- Parvovirus B19 Infection Studies
- Cardiovascular Issues in Pregnancy
- Blood Pressure and Hypertension Studies
- Cancer-related Molecular Pathways
- Human Health and Disease
- Nutrition, Genetics, and Disease
- Infrared Thermography in Medicine
- Congenital Anomalies and Fetal Surgery
- Coronary Interventions and Diagnostics
- Cancer Genomics and Diagnostics
- Cardiac Health and Mental Health
- Medical and Agricultural Research Studies
- Cardiac Imaging and Diagnostics
- Ultrasound and Hyperthermia Applications
National Medical Research Center of Cardiology
2016-2024
Institute of Experimental Cardiology
2015-2017
Abstract Background Germline TP53 gene variants are intricately linked to Li-Fraumeni syndrome, a rare and aggressive hereditary cancer syndrome. This study investigated the frequency spectrum of pathogenic associated with syndrome in large cohort mainly breast patients from Russia. Methods The analyzed 3,455 genomic DNA samples using next-generation sequencing panels whole-genome sequencing. Clinically significant were identified validated Sanger clinical family history characteristics...
With the development of next-generation sequencing (NGS) technologies it became possible to simultaneously analyze millions variants. Despite quality improvement, is generally still required confirm variants before reporting. However, in recent years dominant idea that one could define thresholds for "high quality" which do not require orthogonal validation. that, no works date report concordance between from whole genome and their gold-standard Sanger In this study we analyzed 1756 WGS...
Malignant neoplasms, including pancreatic cancer and melanoma, are major global health challenges. This study investigates melanoma syndrome, a rare hereditary tumor syndrome associated with CDKN2A gene mutations. mutations contribute to lifetime risk of ranging from 28% 67%. reports the clinical features six individuals identifies recurrent alterations such as c.307_308del, c.159G>C c.71G>C. It highlights need for mutation testing in suspected cases familial atypical multiple mole melanoma....
A fast adoption of a non-invasive prenatal testing (NIPT) in clinical practice is global tendency last years. Firstly, Russia according new regulation it was possible to perform widescale pregnant women chromosomal abnormality risk. The aim the study-to assess efficiency using NIPT as second-line first trimester screening test Moscow.Based on combined results 12,700 were classified high-risk (cut-off ≥ 1:100) and an intermediate-risk 1:101 - 1:2500) groups followed by whole genome NIPT....
More than 275 million people in the world are carriers of a heterozygous mutation CFTR gene, associated with cystic fibrosis, most common autosomal recessive disease among Caucasians. Some recent studies assessed association between variants and some pathologies, including cancer risk. The aim this study is to analyze landscape germline pathogenic patients diagnosed malignant neoplasms. For first time Russia, we evaluated frequency by whole-genome sequencing 1800 compared frequencies control...
The objective — To assess the effectiveness of including NIPT in structure prenatal diagnostics Moscow. Material and Methods Totally 5,181 pregnancies undergoing screening for fetal trisomy using during period from 01.04.2020 to 30.09.2020 Russia. According results biochemical blood test, patients were divided into two groups: group high risk (cut-off ≥1:100) (n=208) intermediate 1:101 – 1:2500) (n=4,973). Patients at high-risk cell-free DNA (cfDNA) offered an invasive procedure, followed by...
Objective. To study the efficacy and safety of radiofrequency renal denervation with mono-electrode multi-electrode devices in patients uncontrolled arterial hypertension during follow-up period. Materials methods. The included 42 (mean age 51±12 years), while receiving multicomponent antihypertensive therapy, including diuretic. All underwent arteries a (n=27; group A) (n=15; B). procedure was assessed using creatinine glomerular filtration rate (MDRD equation), as well according to...
Russia and other countries report an increase in the incidence of malignant neoplasms, approximately 10 % all oncological cases have hereditary background. Molecular genetic testing patients with diagnosed neoplasms a suspected factor will help to select effective modern methods treatment prevention development localizations.
 According study, 12,6 had cancer syndrome, which allowed administer molecular tests patients’ relatives. Consequently, it becomes possible detect risk factors,...
In the present study was to investigate quality of medical care for patients with acute coronary syndrome (ACS) old age and compliance treatment current guidelines. The data is exported from system Federal register OKS.Analyzed history 33 893 ACS entered in registry period 01.01.2016 31.12.2016. a comparison made elderly (75 years older, n=8773) younger patients.The results showed that senile age, when compared patients, comorbid conditions are significantly more often observed, as well...
Aim. To evaluate the effectiveness of balloon pulmonary angioplasty (BPA) in patients with inoperable chronic thromboembolic hypertension (CTEPH). Materials and methods. Forty CTEPH were enrolled this study. The indications determined by multidisciplinary team. average age was 53.5 [43; 63] years. In 65% cases had functional class III (according to WHO); distance 6-minute walk test (6MWD) 327 [280; 400] m; catheterization right heart revealed systolic artery pressure (SPAP) 82 [64; 100] mm...
Background ― Chronic thromboembolic pulmonary hypertension (CTEPH) is a rare life-threatening form of artery hypertension. CTEPH potentially curable by performing surgical operation – thrombendarteriectomy. Unfortunately, about 36% patients with are considered as inoperable because different conditions including left main coronary compression syndrome (LMCS), caused delated artery. Appropriate management and LMCS remains unknown. Case report We for the first time case successful hybrid...
Introduction. Management of patients with acute coronary syndrome (ACS) is usually universal, regardless gender, age, and ethnicity. But often in practice, gender age influence medical decisions, do not receive proper care. Medical care for ACS was analyzed by according to the federal register data. Aim. To analyze patient's on course disease provision who underwent treatment 20162019. Materials methods. The data 95 586 cases analyzed. Two groups were identified: men (n=59 442, 62.2%) women...
With the development of modern next generation sequencing based DNA diagnostic methods, it has become possible to study hereditary predisposition oncohematological diseases. Germline variants (mutations) RUNX1 , CEBPA GATA2 ANKRD26 DDX41 FANC - (Fanconi anemia), etc. genes, associated with hematological malignancies, have been identified. Timely diagnosis such diseases will allow for medical genetic counseling and testing patient’s relatives identify or exclude risk developing disease,...
Abstract With the development of Next-Generation Sequencing (NGS) technologies it became possible to simultaneously analyze millions variants. Despite quality improvement is generally still required confirm variants before reporting. However, in recent years dominant idea that one could define thresholds for “high quality” which do not require orthogonal validation. that, no works date report concordance between from whole genome sequencing and their gold-standard Sanger In this study we...
Autosomal dominant hearing loss is represented by a large number of genetically determined forms. Over 50 genes associated with nonsyndromic impairments were described. Pathogenic variants in the CEACAM16 gene lead to development DFNA4B loss. Currently, 8 pathogenic this have been The objective study was audiological and molecular genetic characteristics family CEACAM16-associated autosomal A detailed anamnesis collected, comprehensive examination performed for 21 members. Genetic testing...
Background ― Balloon pulmonary angioplasty (BPA) is an effective and safe method of treating patients with inoperable chronic thromboembolic hypertension (CTEPH). Currently, femoral jugular vein accesses are the most frequently used for BPA. Authors all over world report different numbers access side complications, mostly exceeding 0.4%. We suggest new alternative BPA procedures – antecubital (AVA) that easy. Methods In 2015-2017 period we performed 64 in 19 CTEPH. via AVA using standard...
The aim of the study was to apply appropriate use criteria (AUC) for coronary revascularization on Russian Acute Coronary Syndrome Registry (RusACSR) data analyze validity decision perform percutaneous interventions (PCIs) among patients with acute syndrome (ACS).In Russia, frequency performing PCI increased almost 7.5 times, and more than half all were performed in ACS, period from 2006 2015. AUC 2012 used assess appropriateness. Data exported RusACSR a January 1, 2016 December 31, 2016. We...
Introduction. Today there is no method to assess whether number of PCI-capable centers in Russia corresponds the real needs. The aim study was develop a hospitals necessity calculation algorithm. Material and methods. We used population densities, maximum/optimal distances (areas) which delivery patients with acute coronary syndrome by sanitary transport possible areas where can be transported ambulance transport. Then we calculated density threshold values: Group 1: 53 persons/km2 or more;...
Despite the availability of modern medicines for treating majority cardiovascular diseases, existence such severe diseases as refractory arterial hypertension and pulmonary hypertension, has brought us to development pathogenetic invasive method conditions treatment. Identification potential responses at stage patients selection will help see in details pathogenesis this nosology, determine predictors efficacy alternative methods treatment sand develop protocol these situations. From there,...
Despite the availability of modern medicines for treating majority cardiovascular diseases, existence such severe diseases as refractory arterial hypertension and pulmonary hypertension, has brought us to development pathogenetic invasive method conditions treatment. Identification potential responses at stage patients selection will help see in details pathogenesis this nosology, determine predictors efficacy alternative methods treatment sand develop protocol these situations. From there,...
Every year scientific interest in studying of interventional methods treatment resistant hypertension steadily increases. Row high technology device are created for performance such procedures as well techniques their management also developed. Non-pharmacological ways described this article, which widely used clinical practice: baroreflex activation therapy, radiofrequency renal denervation, and central iliac arteriovenous anastomosis.