Svetlana Shalnova - Academia.edu (original) (raw)

Papers by Svetlana Shalnova

Research paper thumbnail of Major and minor ECG abnormalities depending on regional living conditions in Russia

The goal of our study was to explore the effect of living conditions on the likelihood of major a... more The goal of our study was to explore the effect of living conditions on the likelihood of major and minor ECG abnormalities on a large region scale in Russia. For the analysis, cross-sectional data of the Russian study, ESSE-RF 2013-2014, were used. They were collected on a sample of 16,400 subjects from 10 regions of the Russia. ECG abnormalities were grouped into two categories: Major and Minor (sensu the 2009 version of the Minnesota Code Classification System). Regional living conditions were considered comprehensively via five indices combining 33 characteristics of the regions. The estimates were presented as odds ratios and their 95% confidence intervals. The prevalence values of major abnormalities in the sample were 8.4% among women and 9.4% among men (p=0.021). The prevalence of minor abnormalities constituted 34.1% and 45.9%, respectively (p<0.001). In men, the likelihood of major ECG abnormalities increased with the demographic depression growth (1.08: 1.04-1.12) and ...

Research paper thumbnail of Classification of Deprivation Indices That Applied to Detect Health Inequality: A Scoping Review

International Journal of Environmental Research and Public Health

Introduction: Many studies around the world are undertaken to establish the association between d... more Introduction: Many studies around the world are undertaken to establish the association between deprivation and public health indicators. Both separate indicators (e.g., income, education, occupation, public security and social support) and complex models (indices) include several indicators. Deprivation indices are actively used in public health since the mid 1980s. There is currently no clear classification of indices. Methods: In the current review, data related to deprivation indices are combined and analyzed in order to create a taxonomy of indices based on the results obtained. The search was carried out using two bibliographic databases. After conducting a full-text review of the articles and searching and adding relevant articles from the bibliography, and articles that were already known to the authors, sixty studies describing the use of sixty deprivation indices in seventeen countries were included in the narrative synthesis, resulting in development of a taxonomy of indi...

Research paper thumbnail of Universal Local Linear Kernel Estimators in Nonparametric Regression

Mathematics

New local linear estimators are proposed for a wide class of nonparametric regression models. The... more New local linear estimators are proposed for a wide class of nonparametric regression models. The estimators are uniformly consistent regardless of satisfying traditional conditions of dependence of design elements. The estimators are the solutions of a specially weighted least-squares method. The design can be fixed or random and does not need to meet classical regularity or independence conditions. As an application, several estimators are constructed for the mean of dense functional data. The theoretical results of the study are illustrated by simulations. An example of processing real medical data from the epidemiological cross-sectional study ESSE-RF is included. We compare the new estimators with the estimators best known for such studies.

Research paper thumbnail of Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases

Journal of Personalized Medicine

Cystic fibrosis, phenylketonuria, alpha-1 antitrypsin deficiency, and sensorineural hearing loss ... more Cystic fibrosis, phenylketonuria, alpha-1 antitrypsin deficiency, and sensorineural hearing loss are among the most common autosomal recessive diseases, which require carrier screening. The evaluation of population allele frequencies (AF) of pathogenic variants in genes associated with these conditions and the choice of the best genotyping method are the necessary steps toward development and practical implementation of carrier-screening programs. We performed custom panel genotyping of 3821 unrelated participants from two Russian population representative samples and three patient groups using real-time polymerase chain reaction (PCR) and next generation sequencing (NGS). The custom panel included 115 known pathogenic variants in the CFTR, PAH, SERPINA1, and GJB2 genes. Overall, 38 variants were detected. The comparison of genotyping platforms revealed the following advantages of real-time PCR: relatively low cost, simple genotyping data analysis, and easier detection of large inde...

Research paper thumbnail of Cardiovascular Mortality in 12 Russian Federation Regions – Participants of the "Cardiovascular Disease Epidemiology in Russian Regions" Study

Russian Journal of Cardiology, 2012

Similarto most developed countries, cardiovascular disease (CVD)is a leading cause of mortality i... more Similarto most developed countries, cardiovascular disease (CVD)is a leading cause of mortality in Russia. The levels of CVD mortality in working-age Russian men and women are the highest in Europe and characterised by marked fluctuations. Up to 60% of fatal CVD cases could be explained by the population levels of cardiovascular risk factors. Presently, however, no data are available to demonstrate the varied prevalence of these risk factors inRussia. The information on the actual health status and cardiovascularrisk factor levels in the Russian population could be obtained only in epidemiological studies. Therefore, the Russian Ministry of Health and Social Development initiated the study "Cardiovascular Disease Epidemiology in Russian Regions". This study involves 12 Russian regions which differ by their climatic, geographic, economic, and demographic characteristics. This analysis presents the official levels of CVD mortality in respective Russian regions and the associ...

Research paper thumbnail of The Pathophysiological Basis of Diabetic Cardiomyopathy Development

Current Problems in Cardiology, 2022

Diabetes mellitus (DM) provokes widely known structural and functional dyscoordination of the myo... more Diabetes mellitus (DM) provokes widely known structural and functional dyscoordination of the myocardium performance. A cascade of pathophysiological changes occurs due to metabolic disorders caused by hyperglycemia, insulin resistance, and dyslipidemia. Free fatty acids can stimulate oxidation and accumulate in the cytosol, leading to lipotoxic effects by forming ceramides, diacylglycerol, and reactive oxygen species (ROS). Hyperglycemia also causes an increase in the content of reactive oxygen species and the formation of advanced glycation end (AGE) products, which is accompanied by the development of cardiac glucotoxicity. The combination of these pathophysiological processes, ATP deficiency, and the development of myocardial fatty degeneration induce calcium stress, as well as dysfunction of mitochondria and endoplasmic reticulum, activation of signaling pathways of protein kinase C (PKC), mitogen-activated protein kinases (MAPK), etc., causing chronic sluggish inflammation, as well as first diastolic and further systolic dysfunction, and myocardial fibrosis. This article reviews the data on diabetic alteration of the cardiovascular system.

Research paper thumbnail of The Impact of Hypertension Status on Survival in the Russian Federation

Journal of Hypertension, 2021

Research paper thumbnail of Worldwide trends in hypertension prevalence and progress in treatment and control from 1990 to 2019: a pooled analysis of 1201 population-representative studies with 104 million participants

The Lancet, 2021

Summary Background Hypertension can be detected at the primary health-care level and low-cost tre... more Summary Background Hypertension can be detected at the primary health-care level and low-cost treatments can effectively control hypertension. We aimed to measure the prevalence of hypertension and progress in its detection, treatment, and control from 1990 to 2019 for 200 countries and territories. Methods We used data from 1990 to 2019 on people aged 30–79 years from population-representative studies with measurement of blood pressure and data on blood pressure treatment. We defined hypertension as having systolic blood pressure 140 mm Hg or greater, diastolic blood pressure 90 mm Hg or greater, or taking medication for hypertension. We applied a Bayesian hierarchical model to estimate the prevalence of hypertension and the proportion of people with hypertension who had a previous diagnosis (detection), who were taking medication for hypertension (treatment), and whose hypertension was controlled to below 140/90 mm Hg (control). The model allowed for trends over time to be non-linear and to vary by age. Findings The number of people aged 30–79 years with hypertension doubled from 1990 to 2019, from 331 (95% credible interval 306–359) million women and 317 (292–344) million men in 1990 to 626 (584–668) million women and 652 (604–698) million men in 2019, despite stable global age-standardised prevalence. In 2019, age-standardised hypertension prevalence was lowest in Canada and Peru for both men and women; in Taiwan, South Korea, Japan, and some countries in western Europe including Switzerland, Spain, and the UK for women; and in several low-income and middle-income countries such as Eritrea, Bangladesh, Ethiopia, and Solomon Islands for men. Hypertension prevalence surpassed 50% for women in two countries and men in nine countries, in central and eastern Europe, central Asia, Oceania, and Latin America. Globally, 59% (55–62) of women and 49% (46–52) of men with hypertension reported a previous diagnosis of hypertension in 2019, and 47% (43–51) of women and 38% (35–41) of men were treated. Control rates among people with hypertension in 2019 were 23% (20–27) for women and 18% (16–21) for men. In 2019, treatment and control rates were highest in South Korea, Canada, and Iceland (treatment >70%; control >50%), followed by the USA, Costa Rica, Germany, Portugal, and Taiwan. Treatment rates were less than 25% for women and less than 20% for men in Nepal, Indonesia, and some countries in sub-Saharan Africa and Oceania. Control rates were below 10% for women and men in these countries and for men in some countries in north Africa, central and south Asia, and eastern Europe. Treatment and control rates have improved in most countries since 1990, but we found little change in most countries in sub-Saharan Africa and Oceania. Improvements were largest in high-income countries, central Europe, and some upper-middle-income and recently high-income countries including Costa Rica, Taiwan, Kazakhstan, South Africa, Brazil, Chile, Turkey, and Iran. Interpretation Improvements in the detection, treatment, and control of hypertension have varied substantially across countries, with some middle-income countries now outperforming most high-income nations. The dual approach of reducing hypertension prevalence through primary prevention and enhancing its treatment and control is achievable not only in high-income countries but also in low-income and middle-income settings. Funding WHO.

Research paper thumbnail of Cystic Fibrosis Polymorphic Variants in a Russian Population

Pharmacogenomics and Personalized Medicine, 2020

Cystic fibrosis (CF) is one of the most common monogenic diseases with an autosomal recessive inh... more Cystic fibrosis (CF) is one of the most common monogenic diseases with an autosomal recessive inheritance. Carrier screening leads to a reduction in the number of children born with CF disease. The aim of this study was to develop the custom panel for the diagnosis of heterozygous carriage of polymorphic variants in the CFTR gene and to establish their allelic frequencies (AF) in one of the Russian regions where ethnic Russians predominate. Patients and Methods: The diagnostic panel was designed on the basis of data from the register of CF patients in Russia for 2017 and validated on 22 blood samples of patients with previously genetically established CF. The study participants (n=642) for CF variants estimation were randomly selected from the population-based cohort study ESSE-Vologda. Genotypes were determined by real-time PCR on the QuantStudio 12K Flex Real-Time PCR System. Data processing was performed using the TaqMan Genotyper Software. Results: The proposed diagnostic panel allowed simultaneous analysis of 60 variants of the CFTR gene. A total of 23 carriers of the following variants were identified among 642 participants: F508del (rs113993960) with a frequency of 2.02%, L138ins (rs397508686) and 394delTT (rs121908769)-0.47%, CFTRdele2.3 (c.54-5940_273+10250del21080; p. S18Rfs*16)-0.31%, R117H (rs78655421), and G542X (rs113993959)-0.16%. The frequency of heterozygotes in the Russian population was 3.58% or 1:28 (CI95%: 2.28-5.33% by Clopper-Pearson exact method). Conclusion: High frequency of heterozygous CFTR variants carriers and availability of highly productive diagnostic panel for detection of CFTR variants suggest the prospect of carrier screening for some common CF variants among Russian population.

Research paper thumbnail of Cardiovascular risk factors in hypothyroidism in the populations of the Russian Federation and the USA

Profilakticheskaya meditsina, 2016

фактОры риска неинфекциОнных забОлеваний Не вызывает сомнений наличие связи дисфункции щитовидной... more фактОры риска неинфекциОнных забОлеваний Не вызывает сомнений наличие связи дисфункции щитовидной железы с сердечно-сосудистой патологией. Наиболее ярко это проявляется при гипертиреозе, для ко

Research paper thumbnail of Alcohol consumption and dependence on sociodemographic factors in able-bodied people (according to the ESSE-RF study)

Profilakticheskaya meditsina, 2019

Резюме Обоснование. По данным ВОЗ, Россия наряду с рядом восточноевропейских государств относится... more Резюме Обоснование. По данным ВОЗ, Россия наряду с рядом восточноевропейских государств относится к странам со стабильно высоким потреблением алкоголя. Цель исследования-анализ ассоциаций уровня потребления алкоголя и социально-демографических факторов среди взрослого населения Российской Федерации. Материал и методы. Объектом исследования явилась случайная популяционная выборка мужского и женского взрослого населения в возрасте 25-64 лет 13 регионов России, всего 21 024 человека (7077 мужчин и 13 047 женщин). Потребление алкоголя рассчитывали в граммах чистого этанола с последующим ранжированием на три группы: «никогда в течение последнего года», «мало и умеренно»-до 168/84 г чистого этанола в неделю для мужчин/женщин, «много/чрезмерно»-168/84 г и более в неделю для мужчин/женщин. Результаты. Результаты исследования свидетельствуют, что хотя бы 1 раз в год 76,8% российского населения употребляют алкоголь, чаще мужчины (79,4%), чем женщины-75,9%, однако о пагубном потреблении алкоголя сообщает лишь небольшая часть населения (3,6%), в том числе 5,9% мужчин и 2,1% женщин. Возрастные тренды демонстрируют градиентное снижение с возрастом доли лиц, потребляющих алкоголь, схожее у мужчин и женщин. Городские мужчины употребляют алкоголь в большем объеме по сравнению с их сельскими сверстниками. Лица с низким достатком пьют больше, чем с высоким, соответственно удельный вес абстинентов существенно ниже среди бедных обоего пола, а доля сильно пьющих достоверно выше среди богатых, в основном за счет мужчин. Получены противоположные ассоциации между чрезмерно употребляющими алкоголь и низким уровнем образования. Выводы. В российской популяции доля лиц, чрезмерно употребляющих алкоголь, незначительна, основная часть населения употребляет алкоголь в умеренных объемах. Популярностью пользуются все виды алкогольных напитков, за исключением крепленого вина. При этом мужчины предпочитают крепкие напитки, а женщины-вино. Зависимость от демографических и социальных характеристик можно охарактеризовать меньшими объемами потребления алкоголя женщинами, лицами более старшего возраста, с более низким уровнем образования, со средним уровнем достатка, сельскими жителями. Ключевые слова: алкоголь, социально-демографические факторы, виды алкоголя, гендерные различия.

Research paper thumbnail of Overweight and Obesity in the Russian Population: Prevalence in Adults and Association with Socioeconomic Parameters and Cardiovascular Risk Factors

Obesity Facts, 2019

Objective: To evaluate the prevalence and geographic distribution of overweight and obesity in Ru... more Objective: To evaluate the prevalence and geographic distribution of overweight and obesity in Russian adults aged 25–64 years as well as the association between chronic risk factors and obesity. Methods: Data were obtained from the survey “Epidemiology of Cardiovascular Diseases and Its Risk Factors in Some Regions of the Russian Federation” (ESSE-RF). This is a large cross-sectional multicenter population-based study that included interviews and medical examination (anthropometry, blood pressure [BP] measurement, and laboratory analysis) applied in 2012–2014. Results: The sample included 20,190 adults (response rate 79.4%) aged 25–64 years. Approximately one third of participants (30.3%) had obesity and another third (34.3%) were classified as overweight. BMI increased with age in both sexes. The prevalence of obesity between regions ranged from 24.4 to 35.5%. Overweight and obesity levels decreased with higher education (men only). Overall obesity rates were higher in rural than ...

Research paper thumbnail of An investigation into the

Geographical variations in the prevalence and management of cardiovascular risk factors in outpat... more Geographical variations in the prevalence and management of cardiovascular risk factors in outpatients with CAD: Data from the contemporary CLARIFY registry

Research paper thumbnail of An Empirical Investigation of

CARDIOLOGY ®Original scientific paper Geographical variations in the prevalence and management of... more CARDIOLOGY ®Original scientific paper Geographical variations in the prevalence and management of cardiovascular risk factors in outpatients with CAD: data from the contemporary CLARIFY registry

Research paper thumbnail of Long-term outcomes of chronic coronary syndrome worldwide: insights from the international CLARIFY registry

European Heart Journal, 2019

Aims Over the last decades, the profile of chronic coronary syndrome has changed substantially. W... more Aims Over the last decades, the profile of chronic coronary syndrome has changed substantially. We aimed to determine characteristics and management of patients with chronic coronary syndrome in the contemporary era, as well as outcomes and their determinants. Methods and results Data from 32 703 patients (45 countries) with chronic coronary syndrome enrolled in the prospective observational CLARIFY registry (November 2009 to June 2010) with a 5-year follow-up, were analysed. The primary outcome [cardiovascular death or non-fatal myocardial infarction (MI)] 5-year rate was 8.0% [95% confidence interval (CI) 7.7–8.3] overall [male 8.1% (7.8–8.5); female 7.6% (7.0–8.3)]. A cox proportional hazards model showed that the main independent predictors of the primary outcome were prior hospitalization for heart failure, current smoking, atrial fibrillation, living in Central/South America, prior MI, prior stroke, diabetes, current angina, and peripheral artery disease. There was an interact...

Research paper thumbnail of АССОЦИАЦИИ МЕЖДУ ИШЕМИЧЕСКОЙ БОЛЕЗНЬЮ СЕРДЦА И АРТЕРИАЛЬНОЙ ГИПЕРТОНИЕЙ И ИХ ЗНАЧЕНИЕ ДЛЯ СМЕРТНОСТИ ОТ СЕРДЕЧНО-СОСУДИСТЫХ ЗАБОЛЕВАНИЙ И ВСЕХ ПРИЧИН СРЕДИ НАСЕЛЕНИЯ 55 ЛЕТ И СТАРШЕ

Aim. To study the associations between ischemic heart disease (IHD) and arterial hypertension (AH... more Aim. To study the associations between ischemic heart disease (IHD) and arterial hypertension (AH) in population of men and women 55 years old and more and to estimate the impact to mortality from cardiovascular diseases (CVD) and all causes. Material and methods. The results obtained under the circumstances of prospective study that included 1871 persons (response was 64%), Moscow citizens, with the age 55 y. and older, participants of the cohort study “Stress, ageing and health”. During the study the demographic data was collected, anthropometric parameters and resting ECG, blood pressure (BP). Epidemiologic diagnosis of IHD was set with the Rose Questionnaire and ECG parameters, coded by Minnesota code (MC). Mean time of observation was 4,7 years. Totally 332 lethal cases registered, including 197 — from CVD. Statistical analysis was done with SAS software. Results. During the analysis we found highly significant positive correlations of prevalence of raised (≥140/90 mmHg) and hi...

Research paper thumbnail of Therapy compliance and fixed-dose combinations in arterial hypertension treatment. Focus on a fixed-dose combination of felodipine and metoprolol

CARDIOVASCULAR THERAPY AND PREVENTION, 2009

The paper discusses fixed-dose combined therapy of arterial hypertension (AH), as an effective me... more The paper discusses fixed-dose combined therapy of arterial hypertension (AH), as an effective method for increasing AH treatment compliance.

Research paper thumbnail of Atorvastatin effectiveness and safety in patients with high cardiovascular risk. Revising the results of the OSCAR Study (2006)

CARDIOVASCULAR THERAPY AND PREVENTION, 2010

Aim. To investigate the effects of a atorvastatin (Atoris, KRKA) on major clinical parameters in ... more Aim. To investigate the effects of a atorvastatin (Atoris, KRKA) on major clinical parameters in patients with high cardiovascular risk – the participants of the OSCAR Study (2006). Material and methods. The total number of high-risk patients was 930 (472 men). The mean age was 57,8 years. Coronary heart disease (CHD) was diagnosed in 80,1% of men and 70,0% of women. All participants were divided into three groups by their CHD status: no CHD; with uncomplicated CHD; with CHD complications (myocardial infarction, stroke, and revascularisation in anamnesis). In all patients, the levels of risk factors, lipid profile, anthropometric and hemodynamic parameters were assessed. A generic atorvastatin was administered in a fixed start dose of 10-20 mg/d. The duration of the study was approximately 1,5 months. Results. After 8 weeks of Atoris treatment, a significant improvement in hemodynamic and lipid parameters was observed. In patients with CHD complications, lipid profile dynamics was l...

Research paper thumbnail of Russian doctors' health. Clinico-epidemiological analysis

CARDIOVASCULAR THERAPY AND PREVENTION, 2008

Aim. To assess some aspects of Russian doctors' health.Material and methods. The analysis inc... more Aim. To assess some aspects of Russian doctors' health.Material and methods. The analysis included data on 2347 doctors from various Russian cities: 326 men, 2021 women; mean age 43,6±0,23 years; mean time of working in present speciality 18,2±0,3 years. The participants included 480 cardiologists (20,4%), 1241 therapeutists (52,9%), and 626 doctors of other specialties (26,7%).Results. Awareness on cardiovascular disease (CVD) risk factors was relatively low: total cholesterol (TCH) level was unknown to 56,4% of men and 44,7% of women, glucose level was unknown to 38,4% and 28,8%, respectively. At the same time, high TCH level prevalence was 29,5% in men and 40,0% in women. High heart rate was reported by 15% of doctors; 16,6% of men and 20,5% of women had body mass index >30 kg/m2. Smoking prevalence was 36,7% in men and 10,6% in women. Russian male and female doctors suffered from arterial hypertension (AH) in 32,1% and 30,3%, respectively. Among male doctors with AH, only...

Research paper thumbnail of Body mass in men and women: the Russian national representative sample data

CARDIOVASCULAR THERAPY AND PREVENTION, 2008

At the moment, obesity is a global problem, with an increasing prevalence worldwide, which could ... more At the moment, obesity is a global problem, with an increasing prevalence worldwide, which could be characterized as an obesity "epidemic". The article presents the distribution of body mass index (BMI) and abdominal obesity by age and gender in a representative national sample of the Russian population. In total, 13528 people (5760 men, 7768 women) were examined (response rate 87,8%). Overweight (IMT>25 kg/m2) increased with advanced age, from 11,0% and 15,5% among 20-year-old men and women to 53,6% and 77,0%, respectively, in those aged 60 years (p<0,0001). Obesity (BMI>25 kg/m2) prevalence in women of all ages was at least 2,5 times more prevalent than that in men (among the latter, it was no higher than 15%). Similarly, among males, abdominal obesity prevalence increased with age: from 1,5% in 20-year-olds to 20,9% in those aged 80 years and older. Regardless of age, abdominal obesity prevalence among women was substantially higher than that in men, being maxi...

Research paper thumbnail of Major and minor ECG abnormalities depending on regional living conditions in Russia

The goal of our study was to explore the effect of living conditions on the likelihood of major a... more The goal of our study was to explore the effect of living conditions on the likelihood of major and minor ECG abnormalities on a large region scale in Russia. For the analysis, cross-sectional data of the Russian study, ESSE-RF 2013-2014, were used. They were collected on a sample of 16,400 subjects from 10 regions of the Russia. ECG abnormalities were grouped into two categories: Major and Minor (sensu the 2009 version of the Minnesota Code Classification System). Regional living conditions were considered comprehensively via five indices combining 33 characteristics of the regions. The estimates were presented as odds ratios and their 95% confidence intervals. The prevalence values of major abnormalities in the sample were 8.4% among women and 9.4% among men (p=0.021). The prevalence of minor abnormalities constituted 34.1% and 45.9%, respectively (p<0.001). In men, the likelihood of major ECG abnormalities increased with the demographic depression growth (1.08: 1.04-1.12) and ...

Research paper thumbnail of Classification of Deprivation Indices That Applied to Detect Health Inequality: A Scoping Review

International Journal of Environmental Research and Public Health

Introduction: Many studies around the world are undertaken to establish the association between d... more Introduction: Many studies around the world are undertaken to establish the association between deprivation and public health indicators. Both separate indicators (e.g., income, education, occupation, public security and social support) and complex models (indices) include several indicators. Deprivation indices are actively used in public health since the mid 1980s. There is currently no clear classification of indices. Methods: In the current review, data related to deprivation indices are combined and analyzed in order to create a taxonomy of indices based on the results obtained. The search was carried out using two bibliographic databases. After conducting a full-text review of the articles and searching and adding relevant articles from the bibliography, and articles that were already known to the authors, sixty studies describing the use of sixty deprivation indices in seventeen countries were included in the narrative synthesis, resulting in development of a taxonomy of indi...

Research paper thumbnail of Universal Local Linear Kernel Estimators in Nonparametric Regression

Mathematics

New local linear estimators are proposed for a wide class of nonparametric regression models. The... more New local linear estimators are proposed for a wide class of nonparametric regression models. The estimators are uniformly consistent regardless of satisfying traditional conditions of dependence of design elements. The estimators are the solutions of a specially weighted least-squares method. The design can be fixed or random and does not need to meet classical regularity or independence conditions. As an application, several estimators are constructed for the mean of dense functional data. The theoretical results of the study are illustrated by simulations. An example of processing real medical data from the epidemiological cross-sectional study ESSE-RF is included. We compare the new estimators with the estimators best known for such studies.

Research paper thumbnail of Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases

Journal of Personalized Medicine

Cystic fibrosis, phenylketonuria, alpha-1 antitrypsin deficiency, and sensorineural hearing loss ... more Cystic fibrosis, phenylketonuria, alpha-1 antitrypsin deficiency, and sensorineural hearing loss are among the most common autosomal recessive diseases, which require carrier screening. The evaluation of population allele frequencies (AF) of pathogenic variants in genes associated with these conditions and the choice of the best genotyping method are the necessary steps toward development and practical implementation of carrier-screening programs. We performed custom panel genotyping of 3821 unrelated participants from two Russian population representative samples and three patient groups using real-time polymerase chain reaction (PCR) and next generation sequencing (NGS). The custom panel included 115 known pathogenic variants in the CFTR, PAH, SERPINA1, and GJB2 genes. Overall, 38 variants were detected. The comparison of genotyping platforms revealed the following advantages of real-time PCR: relatively low cost, simple genotyping data analysis, and easier detection of large inde...

Research paper thumbnail of Cardiovascular Mortality in 12 Russian Federation Regions – Participants of the "Cardiovascular Disease Epidemiology in Russian Regions" Study

Russian Journal of Cardiology, 2012

Similarto most developed countries, cardiovascular disease (CVD)is a leading cause of mortality i... more Similarto most developed countries, cardiovascular disease (CVD)is a leading cause of mortality in Russia. The levels of CVD mortality in working-age Russian men and women are the highest in Europe and characterised by marked fluctuations. Up to 60% of fatal CVD cases could be explained by the population levels of cardiovascular risk factors. Presently, however, no data are available to demonstrate the varied prevalence of these risk factors inRussia. The information on the actual health status and cardiovascularrisk factor levels in the Russian population could be obtained only in epidemiological studies. Therefore, the Russian Ministry of Health and Social Development initiated the study "Cardiovascular Disease Epidemiology in Russian Regions". This study involves 12 Russian regions which differ by their climatic, geographic, economic, and demographic characteristics. This analysis presents the official levels of CVD mortality in respective Russian regions and the associ...

Research paper thumbnail of The Pathophysiological Basis of Diabetic Cardiomyopathy Development

Current Problems in Cardiology, 2022

Diabetes mellitus (DM) provokes widely known structural and functional dyscoordination of the myo... more Diabetes mellitus (DM) provokes widely known structural and functional dyscoordination of the myocardium performance. A cascade of pathophysiological changes occurs due to metabolic disorders caused by hyperglycemia, insulin resistance, and dyslipidemia. Free fatty acids can stimulate oxidation and accumulate in the cytosol, leading to lipotoxic effects by forming ceramides, diacylglycerol, and reactive oxygen species (ROS). Hyperglycemia also causes an increase in the content of reactive oxygen species and the formation of advanced glycation end (AGE) products, which is accompanied by the development of cardiac glucotoxicity. The combination of these pathophysiological processes, ATP deficiency, and the development of myocardial fatty degeneration induce calcium stress, as well as dysfunction of mitochondria and endoplasmic reticulum, activation of signaling pathways of protein kinase C (PKC), mitogen-activated protein kinases (MAPK), etc., causing chronic sluggish inflammation, as well as first diastolic and further systolic dysfunction, and myocardial fibrosis. This article reviews the data on diabetic alteration of the cardiovascular system.

Research paper thumbnail of The Impact of Hypertension Status on Survival in the Russian Federation

Journal of Hypertension, 2021

Research paper thumbnail of Worldwide trends in hypertension prevalence and progress in treatment and control from 1990 to 2019: a pooled analysis of 1201 population-representative studies with 104 million participants

The Lancet, 2021

Summary Background Hypertension can be detected at the primary health-care level and low-cost tre... more Summary Background Hypertension can be detected at the primary health-care level and low-cost treatments can effectively control hypertension. We aimed to measure the prevalence of hypertension and progress in its detection, treatment, and control from 1990 to 2019 for 200 countries and territories. Methods We used data from 1990 to 2019 on people aged 30–79 years from population-representative studies with measurement of blood pressure and data on blood pressure treatment. We defined hypertension as having systolic blood pressure 140 mm Hg or greater, diastolic blood pressure 90 mm Hg or greater, or taking medication for hypertension. We applied a Bayesian hierarchical model to estimate the prevalence of hypertension and the proportion of people with hypertension who had a previous diagnosis (detection), who were taking medication for hypertension (treatment), and whose hypertension was controlled to below 140/90 mm Hg (control). The model allowed for trends over time to be non-linear and to vary by age. Findings The number of people aged 30–79 years with hypertension doubled from 1990 to 2019, from 331 (95% credible interval 306–359) million women and 317 (292–344) million men in 1990 to 626 (584–668) million women and 652 (604–698) million men in 2019, despite stable global age-standardised prevalence. In 2019, age-standardised hypertension prevalence was lowest in Canada and Peru for both men and women; in Taiwan, South Korea, Japan, and some countries in western Europe including Switzerland, Spain, and the UK for women; and in several low-income and middle-income countries such as Eritrea, Bangladesh, Ethiopia, and Solomon Islands for men. Hypertension prevalence surpassed 50% for women in two countries and men in nine countries, in central and eastern Europe, central Asia, Oceania, and Latin America. Globally, 59% (55–62) of women and 49% (46–52) of men with hypertension reported a previous diagnosis of hypertension in 2019, and 47% (43–51) of women and 38% (35–41) of men were treated. Control rates among people with hypertension in 2019 were 23% (20–27) for women and 18% (16–21) for men. In 2019, treatment and control rates were highest in South Korea, Canada, and Iceland (treatment >70%; control >50%), followed by the USA, Costa Rica, Germany, Portugal, and Taiwan. Treatment rates were less than 25% for women and less than 20% for men in Nepal, Indonesia, and some countries in sub-Saharan Africa and Oceania. Control rates were below 10% for women and men in these countries and for men in some countries in north Africa, central and south Asia, and eastern Europe. Treatment and control rates have improved in most countries since 1990, but we found little change in most countries in sub-Saharan Africa and Oceania. Improvements were largest in high-income countries, central Europe, and some upper-middle-income and recently high-income countries including Costa Rica, Taiwan, Kazakhstan, South Africa, Brazil, Chile, Turkey, and Iran. Interpretation Improvements in the detection, treatment, and control of hypertension have varied substantially across countries, with some middle-income countries now outperforming most high-income nations. The dual approach of reducing hypertension prevalence through primary prevention and enhancing its treatment and control is achievable not only in high-income countries but also in low-income and middle-income settings. Funding WHO.

Research paper thumbnail of Cystic Fibrosis Polymorphic Variants in a Russian Population

Pharmacogenomics and Personalized Medicine, 2020

Cystic fibrosis (CF) is one of the most common monogenic diseases with an autosomal recessive inh... more Cystic fibrosis (CF) is one of the most common monogenic diseases with an autosomal recessive inheritance. Carrier screening leads to a reduction in the number of children born with CF disease. The aim of this study was to develop the custom panel for the diagnosis of heterozygous carriage of polymorphic variants in the CFTR gene and to establish their allelic frequencies (AF) in one of the Russian regions where ethnic Russians predominate. Patients and Methods: The diagnostic panel was designed on the basis of data from the register of CF patients in Russia for 2017 and validated on 22 blood samples of patients with previously genetically established CF. The study participants (n=642) for CF variants estimation were randomly selected from the population-based cohort study ESSE-Vologda. Genotypes were determined by real-time PCR on the QuantStudio 12K Flex Real-Time PCR System. Data processing was performed using the TaqMan Genotyper Software. Results: The proposed diagnostic panel allowed simultaneous analysis of 60 variants of the CFTR gene. A total of 23 carriers of the following variants were identified among 642 participants: F508del (rs113993960) with a frequency of 2.02%, L138ins (rs397508686) and 394delTT (rs121908769)-0.47%, CFTRdele2.3 (c.54-5940_273+10250del21080; p. S18Rfs*16)-0.31%, R117H (rs78655421), and G542X (rs113993959)-0.16%. The frequency of heterozygotes in the Russian population was 3.58% or 1:28 (CI95%: 2.28-5.33% by Clopper-Pearson exact method). Conclusion: High frequency of heterozygous CFTR variants carriers and availability of highly productive diagnostic panel for detection of CFTR variants suggest the prospect of carrier screening for some common CF variants among Russian population.

Research paper thumbnail of Cardiovascular risk factors in hypothyroidism in the populations of the Russian Federation and the USA

Profilakticheskaya meditsina, 2016

фактОры риска неинфекциОнных забОлеваний Не вызывает сомнений наличие связи дисфункции щитовидной... more фактОры риска неинфекциОнных забОлеваний Не вызывает сомнений наличие связи дисфункции щитовидной железы с сердечно-сосудистой патологией. Наиболее ярко это проявляется при гипертиреозе, для ко

Research paper thumbnail of Alcohol consumption and dependence on sociodemographic factors in able-bodied people (according to the ESSE-RF study)

Profilakticheskaya meditsina, 2019

Резюме Обоснование. По данным ВОЗ, Россия наряду с рядом восточноевропейских государств относится... more Резюме Обоснование. По данным ВОЗ, Россия наряду с рядом восточноевропейских государств относится к странам со стабильно высоким потреблением алкоголя. Цель исследования-анализ ассоциаций уровня потребления алкоголя и социально-демографических факторов среди взрослого населения Российской Федерации. Материал и методы. Объектом исследования явилась случайная популяционная выборка мужского и женского взрослого населения в возрасте 25-64 лет 13 регионов России, всего 21 024 человека (7077 мужчин и 13 047 женщин). Потребление алкоголя рассчитывали в граммах чистого этанола с последующим ранжированием на три группы: «никогда в течение последнего года», «мало и умеренно»-до 168/84 г чистого этанола в неделю для мужчин/женщин, «много/чрезмерно»-168/84 г и более в неделю для мужчин/женщин. Результаты. Результаты исследования свидетельствуют, что хотя бы 1 раз в год 76,8% российского населения употребляют алкоголь, чаще мужчины (79,4%), чем женщины-75,9%, однако о пагубном потреблении алкоголя сообщает лишь небольшая часть населения (3,6%), в том числе 5,9% мужчин и 2,1% женщин. Возрастные тренды демонстрируют градиентное снижение с возрастом доли лиц, потребляющих алкоголь, схожее у мужчин и женщин. Городские мужчины употребляют алкоголь в большем объеме по сравнению с их сельскими сверстниками. Лица с низким достатком пьют больше, чем с высоким, соответственно удельный вес абстинентов существенно ниже среди бедных обоего пола, а доля сильно пьющих достоверно выше среди богатых, в основном за счет мужчин. Получены противоположные ассоциации между чрезмерно употребляющими алкоголь и низким уровнем образования. Выводы. В российской популяции доля лиц, чрезмерно употребляющих алкоголь, незначительна, основная часть населения употребляет алкоголь в умеренных объемах. Популярностью пользуются все виды алкогольных напитков, за исключением крепленого вина. При этом мужчины предпочитают крепкие напитки, а женщины-вино. Зависимость от демографических и социальных характеристик можно охарактеризовать меньшими объемами потребления алкоголя женщинами, лицами более старшего возраста, с более низким уровнем образования, со средним уровнем достатка, сельскими жителями. Ключевые слова: алкоголь, социально-демографические факторы, виды алкоголя, гендерные различия.

Research paper thumbnail of Overweight and Obesity in the Russian Population: Prevalence in Adults and Association with Socioeconomic Parameters and Cardiovascular Risk Factors

Obesity Facts, 2019

Objective: To evaluate the prevalence and geographic distribution of overweight and obesity in Ru... more Objective: To evaluate the prevalence and geographic distribution of overweight and obesity in Russian adults aged 25–64 years as well as the association between chronic risk factors and obesity. Methods: Data were obtained from the survey “Epidemiology of Cardiovascular Diseases and Its Risk Factors in Some Regions of the Russian Federation” (ESSE-RF). This is a large cross-sectional multicenter population-based study that included interviews and medical examination (anthropometry, blood pressure [BP] measurement, and laboratory analysis) applied in 2012–2014. Results: The sample included 20,190 adults (response rate 79.4%) aged 25–64 years. Approximately one third of participants (30.3%) had obesity and another third (34.3%) were classified as overweight. BMI increased with age in both sexes. The prevalence of obesity between regions ranged from 24.4 to 35.5%. Overweight and obesity levels decreased with higher education (men only). Overall obesity rates were higher in rural than ...

Research paper thumbnail of An investigation into the

Geographical variations in the prevalence and management of cardiovascular risk factors in outpat... more Geographical variations in the prevalence and management of cardiovascular risk factors in outpatients with CAD: Data from the contemporary CLARIFY registry

Research paper thumbnail of An Empirical Investigation of

CARDIOLOGY ®Original scientific paper Geographical variations in the prevalence and management of... more CARDIOLOGY ®Original scientific paper Geographical variations in the prevalence and management of cardiovascular risk factors in outpatients with CAD: data from the contemporary CLARIFY registry

Research paper thumbnail of Long-term outcomes of chronic coronary syndrome worldwide: insights from the international CLARIFY registry

European Heart Journal, 2019

Aims Over the last decades, the profile of chronic coronary syndrome has changed substantially. W... more Aims Over the last decades, the profile of chronic coronary syndrome has changed substantially. We aimed to determine characteristics and management of patients with chronic coronary syndrome in the contemporary era, as well as outcomes and their determinants. Methods and results Data from 32 703 patients (45 countries) with chronic coronary syndrome enrolled in the prospective observational CLARIFY registry (November 2009 to June 2010) with a 5-year follow-up, were analysed. The primary outcome [cardiovascular death or non-fatal myocardial infarction (MI)] 5-year rate was 8.0% [95% confidence interval (CI) 7.7–8.3] overall [male 8.1% (7.8–8.5); female 7.6% (7.0–8.3)]. A cox proportional hazards model showed that the main independent predictors of the primary outcome were prior hospitalization for heart failure, current smoking, atrial fibrillation, living in Central/South America, prior MI, prior stroke, diabetes, current angina, and peripheral artery disease. There was an interact...

Research paper thumbnail of АССОЦИАЦИИ МЕЖДУ ИШЕМИЧЕСКОЙ БОЛЕЗНЬЮ СЕРДЦА И АРТЕРИАЛЬНОЙ ГИПЕРТОНИЕЙ И ИХ ЗНАЧЕНИЕ ДЛЯ СМЕРТНОСТИ ОТ СЕРДЕЧНО-СОСУДИСТЫХ ЗАБОЛЕВАНИЙ И ВСЕХ ПРИЧИН СРЕДИ НАСЕЛЕНИЯ 55 ЛЕТ И СТАРШЕ

Aim. To study the associations between ischemic heart disease (IHD) and arterial hypertension (AH... more Aim. To study the associations between ischemic heart disease (IHD) and arterial hypertension (AH) in population of men and women 55 years old and more and to estimate the impact to mortality from cardiovascular diseases (CVD) and all causes. Material and methods. The results obtained under the circumstances of prospective study that included 1871 persons (response was 64%), Moscow citizens, with the age 55 y. and older, participants of the cohort study “Stress, ageing and health”. During the study the demographic data was collected, anthropometric parameters and resting ECG, blood pressure (BP). Epidemiologic diagnosis of IHD was set with the Rose Questionnaire and ECG parameters, coded by Minnesota code (MC). Mean time of observation was 4,7 years. Totally 332 lethal cases registered, including 197 — from CVD. Statistical analysis was done with SAS software. Results. During the analysis we found highly significant positive correlations of prevalence of raised (≥140/90 mmHg) and hi...

Research paper thumbnail of Therapy compliance and fixed-dose combinations in arterial hypertension treatment. Focus on a fixed-dose combination of felodipine and metoprolol

CARDIOVASCULAR THERAPY AND PREVENTION, 2009

The paper discusses fixed-dose combined therapy of arterial hypertension (AH), as an effective me... more The paper discusses fixed-dose combined therapy of arterial hypertension (AH), as an effective method for increasing AH treatment compliance.

Research paper thumbnail of Atorvastatin effectiveness and safety in patients with high cardiovascular risk. Revising the results of the OSCAR Study (2006)

CARDIOVASCULAR THERAPY AND PREVENTION, 2010

Aim. To investigate the effects of a atorvastatin (Atoris, KRKA) on major clinical parameters in ... more Aim. To investigate the effects of a atorvastatin (Atoris, KRKA) on major clinical parameters in patients with high cardiovascular risk – the participants of the OSCAR Study (2006). Material and methods. The total number of high-risk patients was 930 (472 men). The mean age was 57,8 years. Coronary heart disease (CHD) was diagnosed in 80,1% of men and 70,0% of women. All participants were divided into three groups by their CHD status: no CHD; with uncomplicated CHD; with CHD complications (myocardial infarction, stroke, and revascularisation in anamnesis). In all patients, the levels of risk factors, lipid profile, anthropometric and hemodynamic parameters were assessed. A generic atorvastatin was administered in a fixed start dose of 10-20 mg/d. The duration of the study was approximately 1,5 months. Results. After 8 weeks of Atoris treatment, a significant improvement in hemodynamic and lipid parameters was observed. In patients with CHD complications, lipid profile dynamics was l...

Research paper thumbnail of Russian doctors' health. Clinico-epidemiological analysis

CARDIOVASCULAR THERAPY AND PREVENTION, 2008

Aim. To assess some aspects of Russian doctors' health.Material and methods. The analysis inc... more Aim. To assess some aspects of Russian doctors' health.Material and methods. The analysis included data on 2347 doctors from various Russian cities: 326 men, 2021 women; mean age 43,6±0,23 years; mean time of working in present speciality 18,2±0,3 years. The participants included 480 cardiologists (20,4%), 1241 therapeutists (52,9%), and 626 doctors of other specialties (26,7%).Results. Awareness on cardiovascular disease (CVD) risk factors was relatively low: total cholesterol (TCH) level was unknown to 56,4% of men and 44,7% of women, glucose level was unknown to 38,4% and 28,8%, respectively. At the same time, high TCH level prevalence was 29,5% in men and 40,0% in women. High heart rate was reported by 15% of doctors; 16,6% of men and 20,5% of women had body mass index >30 kg/m2. Smoking prevalence was 36,7% in men and 10,6% in women. Russian male and female doctors suffered from arterial hypertension (AH) in 32,1% and 30,3%, respectively. Among male doctors with AH, only...

Research paper thumbnail of Body mass in men and women: the Russian national representative sample data

CARDIOVASCULAR THERAPY AND PREVENTION, 2008

At the moment, obesity is a global problem, with an increasing prevalence worldwide, which could ... more At the moment, obesity is a global problem, with an increasing prevalence worldwide, which could be characterized as an obesity "epidemic". The article presents the distribution of body mass index (BMI) and abdominal obesity by age and gender in a representative national sample of the Russian population. In total, 13528 people (5760 men, 7768 women) were examined (response rate 87,8%). Overweight (IMT>25 kg/m2) increased with advanced age, from 11,0% and 15,5% among 20-year-old men and women to 53,6% and 77,0%, respectively, in those aged 60 years (p<0,0001). Obesity (BMI>25 kg/m2) prevalence in women of all ages was at least 2,5 times more prevalent than that in men (among the latter, it was no higher than 15%). Similarly, among males, abdominal obesity prevalence increased with age: from 1,5% in 20-year-olds to 20,9% in those aged 80 years and older. Regardless of age, abdominal obesity prevalence among women was substantially higher than that in men, being maxi...