scholarly journals The role of globotriaosylsphingosine in the diagnosis of Fabry disease in Russian patients

2020 ◽  
pp. 81-82
Author(s):  
Н.Н. Мазанова ◽  
А.А. Пушков ◽  
А.В. Пахомов ◽  
А.Ю. Асанов ◽  
К.В. Савостьянов
Keyword(s):  
Fabry Disease ◽  
Initial Diagnosis ◽  
Federal State ◽  
National Medical ◽  
Pathogenic Variants ◽  
Medical Genomics ◽  
The Russian Federation ◽  
Gla Gene ◽  
Autonomous Institution

Болезнь Фабри (БФ), MIM 301500 - Х-сцепленное заболевание, обусловленное мутациями в гене GLA, который кодирует фермент α-галактозидазу А (α-гал А). В 2017 году в лаборатории молекулярной генетики и медицинской геномики «НМИЦ здоровья детей» Министерства Здравоохранения России был разработан и внедрен метод определения концентрации лизо-Гб3 для диагностики БФ. К настоящему времени нами исследовано 9830 образцов сухих пятен крови из различных регионов России, полученных от 8832 пациентов мужского пола и 998 женского пола, в возрасте от 12 до 70 лет. В результате проведенного исследования у 33 мужчин было выявлено снижение активности фермента, а у 31 из них - повышение концентрации лизо-Гб3, у этих мужчин были обнаружены патогенные варианты гена GLA, тогда как у двух оставшихся мужчин были найдены полиморфные варианты гена GLA, описанные ранее как аллели, обладающие псевдодефицитной активностью. Кроме того, были выявлены 2 женщины с повышенной концентрацией лизо-Гб3, у которых также были обнаружены патогенные варианты гена GLA, тогда как у 5 женщин с псевдодефицитными аллелями гена GLA концентрация лизо-Гб3 была в норме. Наше исследование продемонстрировало преимущество измерения концентрации биомаркера лизо-Гб3 по сравнению с определением активности фермента α-гал А для первичной диагностики мужчин с подозрением на БФ, a также возможность использования этого биомаркера для первичной диагностики женщин с подозрением на БФ. Fabry Disease (BF), MIM 301500 - X-linked disease caused by mutations in the GLA gene, which encodes the enzyme α-galactosidase A (α-gal A). In 2017, a method for determining the concentration of lyso-Gb3 for the diagnosis of FD was developed and introduced in the laboratory of molecular genetics and medical genomics of the “National Medical Research of Children’s Health Federal State Autonomous Institution of the Ministry of Health of the Russian Federation. To date, we have studied 9830 samples of dry blood spots from various regions of Russia, obtained from 8832 male and 998 female patients, aged 12 to 70 years. As a result of the study, a decrease in enzyme activity was detected in 33 men, and in 31 of them an increase in the concentration of lyso-Gb3, pathogenic variants of the GLA gene were found in these men, while the two remaining men found polymorphic variants of the GLA gene, previously described as alleles with pseudodeficiency activity. In addition, 2 women with an increased concentration of lyso-Gb3 were identified, in whom pathogenic variants of the GLA gene were also detected, while in 5 women with pseudo-deficient alleles of the GLA gene, the concentration of lyso-Gb3 was normal. Our study demonstrated the advantage of measuring the concentration of the lyso-Gb3 biomarker compared to determining the activity of the α-gal A enzyme for the initial diagnosis of men with suspected FD, as well as the possibility of using this biomarker for the initial diagnosis of women with suspected DF.

scholarly journals Endoscopic technologies in treatment 7-month-old child with multiple laryngeal cysts

2021 ◽  
Vol 10 (2) ◽  
pp. 193-198
Author(s):  
Abdumanap B. Alkhasov ◽  
Elena Yu. Dyakonova ◽  
Maxim M. Lokhmatov ◽  
Yuri Yu. Rusetsky ◽  
Sergey P. Yatsyk ◽  
...  
Keyword(s):  
Neonatal Intensive Care ◽  
Surgical Techniques ◽  
Upper Airway ◽  
Uneventful Recovery ◽  
Neonatal Intensive Care Units ◽  
Federal State ◽  
National Medical ◽  
The Russian Federation ◽  
Autonomous Institution ◽  
Invasive Techniques

Introduction. Subglottic cysts are a rare clinical entity among infants and children. The annual incidence of congenital laryngeal cysts is quoted as 1,82 per 100,000 live births. The majority of cases present in neonates born at the extremes of prematurity and invariably have been intubated and managed in neonatal intensive care units. Clinically, the pathology manifested as upper airway obstruction, stridor, and dysphonia. Various surgical techniques have been proposed for the treatment of patients with laryngeal cysts. In a large percentage of cases, tracheostomy is required, especially in patients with large cysts due to the development of symptoms of respiratory failure. Purpose. The aim of this study is to demonstrate that endoscopic technologies in the treatment of laryngeal cysts in children can be useful to avoid tracheostomy and lead to an uneventful recovery. Materials and methods. We present a clinical case of managing a 7-month-old child with multiple laryngeal cysts from the Department of Thoracic Surgery in the National Medical Research Center for Childrens Health Federal state autonomous institution of the Russian Federation Ministry of Health. Conclusion. In the presented case, we demonstrate that modern minimally invasive techniques to treat laryngeal cysts restore the lumen of the respiratory tract. facilitate the course of the postoperative period, achieve complete patient recovery, and avoid tracheostomy.

scholarly journals LEGAL PRINCIPLES OF THE AUSTRIAN TAX SYSTEM’S REGULATION

2016 ◽  
Vol 1 (6) ◽  
pp. 0-0
Author(s):  
Оксана Журавлева ◽  
Oksana Zhuravleva
Keyword(s):  
Russian Federation ◽  
Federal State ◽  
Legal Principles ◽  
Federal States ◽  
Tax Legislation ◽  
Eurasian Economic Union ◽  
The Subject ◽  
The Russian Federation ◽  
Supranational Regulation

According to the Concept of the Foreign Policy of the Russian Federation, the establishment of the Eurasian Economic Union is a priority for Russia. It is necessary to take into account the experience of other federal states through the integration model’s creation. Austria is a federal state like the Russian Federation. The analysis of the Austrian experience in tax regulation including the implementation of supranational regulation rules in the national legislation may help to plan successful strategies. The article is focused on the legal basis for taxation in Austria. The subject of the research is the legal principles of taxation regulation, its dynamics, system and sources of tax legislation. The author concludes that 2015/2016 tax reform will change the implementation mechanisms of principles of federalism and justice. The research identifies tendencies for strengthening the role of federal regulation in taxation, harmonization of taxation procedures, revision of the economic model of taxation of physical persons’ incomes.

scholarly journals Features of the organization of public service of medical and social expertise at the present stage

2016 ◽  
Vol 19 (3) ◽  
pp. 159-163
Author(s):  
S. N Puzin ◽  
Servir S. Memetov ◽  
M. A Shurgaya ◽  
L. Yu Baleka
Keyword(s):  
Russian Federation ◽  
Evaluation System ◽  
Health Care Organizations ◽  
Federal State ◽  
Persons With Disabilities ◽  
Cultural Life ◽  
Full Participation ◽  
The Russian Federation ◽  
Political Economic

In the modem society, the state acts as the guarantor ofsocial security of citizens with disabilities. In this direction as an important stage the ratification by the Russian Federation of the Convention on the Rights of Persons with Disabilities in 2012 has turned. Convention was directed to the assurance of the full participation of persons with disabilities in civil, political, economic, social and cultural life of the society. Ratification of the Convention required to insert amendments in the acting legislations of the Russian Federation, including those concerning Medical and Social Expertise (MSE). In particular, there was changed quantitative and qualitative body of specialists, members of the Bureau of the MSE, there was changed the classification and the criteria used for the implementation of medical and social examination of citizens by Federal State MSE institutions. There was the replacement of a paradigm in relation to persons with restrictions in the life activity. The role of health care organizations in terms of examinations and clinical diagnosis in citizens, sent to the medical and social expertise has increased significantly. In the article there is presented an analysis of the current regulatory - legal frameworkfor the implementation of medical and social examination of citizens by Federal State MSE institutions. There was emphasized the importance of quantitative evaluation system of the severity of persistent disorders of the human body functions, caused by diseases, consequences of injuries and defects.

Innovation in Russia: regional and industrial aspects

2019 ◽  
Vol 40 (3) ◽  
pp. 139-147
Author(s):  
I. V. Khristoforova ◽  
I. I. Idilov ◽  
M. S. Abrashkin
Keyword(s):  
Innovation Management ◽  
Secondary Data ◽  
Federal State ◽  
The Internet ◽  
Current State ◽  
Role Of The State ◽  
The Russian Federation ◽  
State Of Affairs ◽  
Desk Research

The article is of an analytical and analytical nature and is based on information prepared in the course of desk research. Secondary data from the Internet is used, including from the website of the Federal State Statistics Service. The review made it possible to consider the current state of affairs in the field of innovation management in the Russian Federation, to make comparisons on individual indicators in territorial and sectoral contexts. The main problems and possible ways of development of innovative activity are revealed; the role of the state in the development of innovative policy of the country, regions, specific industries and enterprises is shown.

scholarly journals Renal variant of Fabry disease with sporadic GLA gene mutation: role of early renal biopsy

2012 ◽  
Vol 5 (5) ◽  
pp. 416-419 ◽  
Author(s):  
S. Al-Salam ◽  
A. Chaaban ◽  
F. Al-Jasmi ◽  
K. Amann ◽  
S. Abouchacra
Keyword(s):  
Fabry Disease ◽  
Renal Biopsy ◽  
Gene Mutation ◽  
Gla Gene

CPSU Legacies and Regional Democracy in Contemporary Russia

2014 ◽  
Vol 63 (1_suppl) ◽  
pp. 173-190 ◽  
Author(s):  
Alexander Libman ◽  
Anastassia V. Obydenkova
Keyword(s):  
Soviet Union ◽  
Negative Impact ◽  
National Level ◽  
Federal State ◽  
Regional Economies ◽  
The Soviet Union ◽  
The Russian Federation ◽  
The Impact ◽  
Unique Dataset

This article investigates the impact of Communist historical legacies on the variation of sub-national regimes in a federal state. It focuses on the Russian Federation and studies the role of sub-national variations of membership rates in the Communist Party of the Soviet Union (CPSU) during the 1970s and 1980s as a predictor of regional democracy in Russia in the 2000s. Using a unique dataset collected by the authors, the article shows that past CPSU membership rates continue to have a significant and negative impact on democracy at the sub-national level. The article also investigates possible mechanisms of this effect and links them to the persistence of Soviet bureaucracies and their role in exercising control over regional economies. These findings contribute to understanding the complex nexus of federalism and sub-national democracy and to the study of the role of communist legacies in democratisation.

scholarly journals First experience using telemedicine technologies in ophthalmology of the Far Eastern Federal District of the Russian Federation

2021 ◽  
pp. 57-63
Author(s):  
O.V. Kolenko ◽  
◽  
M.V. Pshenichnov ◽  
E.L. Sorokin ◽  
M.G. Grekov ◽  
...  
Keyword(s):  
Russian Federation ◽  
Federal District ◽  
State Institution ◽  
Federal State ◽  
Knowledge Transmission ◽  
High Demand ◽  
National Medical ◽  
Key Words Telemedicine ◽  
The Russian Federation ◽  
Far Eastern

Purpose. Evaluation of the first experience in organizing systematic telemedicine consultations/conciliums between the national medical research center and medical organizations in the territory of the Far Eastern Federal District (FEFD) of the Russian Federation. Material and methods. The analysis of organizational and technical difficulties in creating of stable system of planned and unscheduled telecommunication events between the Khabarovsk branch of the Fyodorov Eye Microsurgery Federal State Institution (Khabarovsk branch) and assigned to it medical organizations of the 3rd level, providing ophthalmological care for patients from 8 administrative territories of the FEFD. Results. Organizational and methodological department was created in the Khabarovsk branch, which clarified and eliminated the factors that impeded of telemedicine consultations/conciliums for ophthalmologists of medical organizations of the 3rd level; a set of organizational measures was taken to register these medical organizations in the Federal Register of Medical Organizations, in the Unified State Information System in the Field of Healthcare; the equipment necessary for communication was purchased and technically prepared; methodological assistance was provided in setting up equipment in the regions, including on-site visits; backup connections of several providers have been created; an algorithm for preliminary notification of regional ophthalmologists about the knowledge transmission has been worked out; an organizational algorithm for forming a request for telemedicine consultations has been tested. For 2019–2020 the Khabarovsk branch conducted 32 knowledge transmissions, 560 telemedicine consultations on patients living in the FEFD. Conclusion. The introduction into the daily clinical ophthalmologists practice in the FEFD of system of periodic telecommunication events between the Khabarovsk branch and assigned medical organizations of the 3rd level after the elimination of organizational and technical difficulties showed a high demand, allowing consultations on patient management in accordance with modern standards of ophthalmological care. Key words: telemedicine, teleophthalmology, Far Eastern Federal District, knowledge transmission, telemedicine consultations

scholarly journals Strategic documents to define the role of the libraries

2019 ◽  
pp. 21-30
Author(s):  
E. N. Guseva
Keyword(s):  
Russian Federation ◽  
Cultural Policy ◽  
Action Plan ◽  
The State ◽  
Whole Body ◽  
Federal State ◽  
Retail Sector ◽  
The Russian Federation ◽  
The Government

Currently, the creation of strategic documents and the implementation of the action plan to achieve the goals and objectives set out in such documents is widespread among large business companies, both manufacturing and mining sectors, the retail sector, as well as elevated to the rank of mandatory for corporations with state participation, Federal state unitary Enterprises and a number of similar organizations. Such requirements are imposed on a number of sectors of the economy, and the cultural sector, where there are two documents of strategic goal – settingthe Basis of the state cultural policy and the Strategy of the state cultural policy, has not escaped this.It is important that these strategic planning documents, which represent a whole body of normative legal acts defining the goals and directions of the country's development, are of significant legal significance, as they are approved by the Decrees of the President of the Russian Federation or by resolutions and orders of the Government of the Russian Federation, which, in particular, means that they are binding.The article is devoted to the analysis of approaches to the definition of the role of libraries presented in various strategic documents of the Federal level, approved in recent years, which in a General sense can be considered clearly formulated "state order" for the implementation of which the activities of public libraries of the country should be focused in the coming years and in the long term.

Anti-crisis management

2021 ◽  
Author(s):  
Vladimir Orehov ◽  
Tat'yana Orehova ◽  
Konstantin Baldin
Keyword(s):  
Crisis Management ◽  
Russian Federation ◽  
Educational Institutions ◽  
Federal State ◽  
Postgraduate Students ◽  
Social Partnership ◽  
The Russian Federation ◽  
Innovative Economy ◽  
State Educational

The anti-crisis management of the economy and national security of the Russian Federation in modern conditions (pandemics, hybrid wars, competitive restrictions and anti-Russian propaganda from the West), approaches to Western sanctions as new opportunities for the development of the Russian Federation are considered. The ways of developing an innovative economy and increasing the productivity of aggregate labor as the main sources that ensure the accelerated development of the country are outlined. Attention is paid to the peculiarities of social partnership, economic and financial crises in the trends of macro - and micro-development, the role of investment as a financial source of anti-crisis management. The theoretical and practical foundations of the insolvency (bankruptcy) of enterprises and individual entrepreneurs, the methodology of the enterprise's recovery from the crisis, forecasting the results of anti-crisis management are described. Meets the requirements of the federal state educational standards of higher education of the latest generation. For undergraduate, graduate, postgraduate students and teachers of higher educational institutions of economic specialties, as well as researchers, managers and managers of firms.

scholarly journals Experience in Using Simulation Equipment in Teaching Transthoracic Echocardiography Skills

2021 ◽  
Vol 1 (3) ◽  
pp. 132-133
Author(s):  
Kh. A. Tengizov ◽  
S. V. Shahidzhanova ◽  
M. A. Saidova
Keyword(s):  
Medical Research ◽  
Russian Federation ◽  
Transthoracic Echocardiography ◽  
Research Center ◽  
Federal State ◽  
Ministry Of Health ◽  
National Medical ◽  
The Russian Federation

This paper describes the experience of teaching transthoracic echocardiography (TTE) skills on simulation equipment, accumulated over 2 years of training of residents in the direction of "Cardiology" at the Federal State Budgetary Institution "National Medical Research Center of Cardiology" of the Ministry of Health of the Russian Federation (Cardiocenter).

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