scholarly journals Research Centre for Medical Genetics: Short History

2019 ◽  
pp. 34-49
Author(s):  
Е.К. Гинтер ◽  
Л.М. Константинова
Keyword(s):  
Medical Science ◽  
Medical Genetics ◽  
Hereditary Diseases ◽  
Research Centre ◽  
Clinical Genetics ◽  
Short History ◽  
Main Research ◽  
Research Areas ◽  
Effective Diagnosis ◽  
Structure Research

Медико-генетический научный центр (ФГБНУ МГНЦ) сформировался на базе Института медицинской генетики (ИМГ) АМН СССР. В структуре Института с самого начала была заложена организация научных отделов, в которых разрабатывались бы основные для того времени исследовательские направления: популяционная генетика, клиническая генетика, цитогенетика и биохимическая генетика. Самые заметные изменения в структуре Института и тематике научных исследований произошли в связи с реорганизацией ИМГ АМН СССР во Всесоюзный научный медико-генетический центр в 1989 г. В настоящее время сотрудники ФГБНУ МГНЦ проводят исследования по всем основным направлениям медицинской генетики, разрабатывают уникальные методы эффективной диагностики и новые методы лечения наследственных болезней. The Research Centre for Medical Genetics (FSBI RCMG) was established based on the Institute of Medical Genetics (IMG) of the USSR Academy of Medical Science. From the very beginning, the structure of the Institute provided for the research departments that would develop the main research areas of that time: population genetics, clinical genetics, cytogenetics and biochemical genetics. The restructuring of the IMG into the All-Union Research Centre for Medical Genetics led to the most noticeable changes in the Institute structure. Research in all major areas of medical genetics, the development of unique methods for the effective diagnosis and treatment of hereditary diseases are currently being carried out at the Center.

scholarly journals In memoriam of our colleagues and friends

2021 ◽  
Vol 12 (1) ◽  
pp. 79-87
Author(s):  
Victoria N. Gorbunova
Keyword(s):  
Muscular Atrophy ◽  
Teaching Experience ◽  
Medical Genetics ◽  
Educational Process ◽  
Hereditary Diseases ◽  
Clinical Genetics ◽  
Pathogenetic Therapy ◽  
History Of ◽  
Radiation Induced ◽  
Medical University

The Department of General and Molecular Medical Genetics of St. Petersburg State Pediatric Medical University has existed for more than thirty years. Over these years, three outstanding scientists and clinical geneticists, our colleagues and members of the department, have passed away. Fundamental works of A.M. Polishchuk contributed to the study of radiation-induced chromosomal instability. One of the pioneers in the field of clinical cytogenetics in our country, A.M. Polishchuk was also at the origins of teaching genetics to future doctors. He was in the staff of the Department of Medical Genetics of St. Petersburg State Pediatric Medical University since its foundation in 1989, where his teaching experience was very appreciated. Having emigrated to Israel in the mid-1990s, A.M. Polishchuk continued his studies in laboratory genetics. The history of the development of genetics in Russia remained In the field of scientific interests of A.M. Polishchuk, until recent years. A.M. Polishchuk died in February 2020. Among the first members of the Department of Medical Genetics was also V.V. Krasilnikov. A student of the famous geneticist-neurologist E.A. Savelyeva-Vasilyeva, V.V. Krasilnikov became a prominent specialist in the field of clinical genetics, who spent more than three decades working at the Medical Genetic Center. An excellent diagnostician, he had a broad scientific outlook and deep knowledge in the study of microanomalies of development in hereditary pathology. After a long-lasting illness V.V. Krasilnikov died in 2012. V.G. Vakharlovsky was also a student of E.A. Savelyeva-Vasilyeva. The opus magnum of this outstanding clinician was the development of methods for pathogenetic therapy of the very grave hereditary diseases: WilsonKonovalov disease and spinal muscular atrophy. Having joined the team of the Department of Medical Genetics of the St. Petersburg State Pediatric Medical University in the 2000s, he brought into the educational process the practice of visiting a boarding home for mentally-handicapped children, introduced regular case studies. In 2010, with the Vakharlovskys death our collective suffered the big loss.

scholarly journals Regular genetic counseling and DNA diagnostics of hereditary diseases of the cardiovascular system in the practice of the federal multidisciplinary surgical center (the analysis of the experience of last 10 years work experience of medical genetics laboratory of Petrovsky National Research Centre of Surgery)

2020 ◽  
pp. 28-30
Author(s):  
В.А. Румянцева ◽  
Е.В. Заклязьминская
Keyword(s):  
Genetic Counseling ◽  
Personalized Medicine ◽  
Cardiovascular System ◽  
Work Experience ◽  
Medical Genetics ◽  
Hereditary Diseases ◽  
Research Centre ◽  
Medical Genetic ◽  
Dna Diagnostics ◽  
Medical Genetic Services

Анализ результатов 10-летней работы лаборатории медицинской генетики показал необходимость развития новых отраслей генетики для формирования персонализированной медицины в России. Совершенствование медико-генетической службы на базе многопрофильного хирургического центра дает большие преимущества в развитии семейных обследований. The analysis of last 10 years work experience of medical genetics laboratory has shown the need for the development of new branches of genetics for the formation of personalized medicine in Russia. The improvement of the medical genetic services at the multidisciplinary surgical center provides great advantages in the development of family examinations.

Social exchange processes, health behaviour, and health behaviour change

2008 ◽  
Vol 16 (3) ◽  
pp. 131-134
Author(s):  
Urte Scholz ◽  
Rainer Hornung
Keyword(s):  
Social Exchange ◽  
Health Behaviour ◽  
Psychological Research ◽  
Smoking Behaviour ◽  
Self Report ◽  
Long Term Effects ◽  
Main Research ◽  
Research Areas ◽  
Exchange Processes ◽  
Multi Method Approach

Abstract. The main research areas of the Social and Health Psychology group at the Department of Psychology at the University of Zurich, Switzerland, are introduced. Exemplarily, three currently ongoing projects are described. The project ”Dyadic exchange processes in couples facing dementia” examines social exchanges in couples with the husband suffering from dementia and is based on Equity Theory. This project applies a multi-method approach by combining self-report with observational data. The ”Swiss Tobacco Monitoring System” (TMS) is a representative survey on smoking behaviour in Switzerland. Besides its survey character, the Swiss TMS also allows for testing psychological research questions on smoking with a representative sample. The project, ”Theory-based planning interventions for changing nutrition behaviour in overweight individuals”, elaborates on the concept of planning. More specifically, it is tested whether there is a critical amount of repetitions of a planning intervention (e.g., three or nine times) in order to ensure long-term effects.

Borders, Conflicts and Bargaining in Federations and Communities of Governments

2009 ◽  
pp. 83-99
Author(s):  
A. Libman
Keyword(s):  
Economic Policy ◽  
Public Authority ◽  
Modern World ◽  
Main Research ◽  
Research Areas ◽  
Nation States ◽  
Distribution Of Power

Economic policy in the modern world can be treated as an outcome of interaction of multiple territorial centers of public authority: nation-states, subnational and supranational jurisdictions. In the last decades economics has increased its attention to the factors which influence the distribution of power among jurisdictions. The paper surveys two main research areas in this literature: economics of conflicts and theory of endogenous decentralization. It discusses the basic models of both approaches and their modifications applied in the literature as well as factors of conflict formation and bargaining over devolution.

Family entrepreneurship and internationalization strategies

2017 ◽  
Vol 27 (2) ◽  
pp. 150-160 ◽  
Author(s):  
Vanessa Ratten ◽  
Veland Ramadani ◽  
Leo-Paul Dana ◽  
Frank Hoy ◽  
Joao Ferreira
Keyword(s):  
Family Businesses ◽  
Content Type ◽  
Main Research ◽  
Research Areas ◽  
Inclusive Approach ◽  
Internationalization Strategies ◽  
Entrepreneurial Knowledge ◽  
Emerging Themes ◽  
Family Entrepreneurship ◽  
Practical Implications

Purpose The purpose of this paper is to provide an overview of family entrepreneurship and internationalization strategies by discussing the papers in this special journal issue. Design/methodology/approach The main research areas related to family business are discussed in terms of socioemotional wealth and societal trends. A review of the literature is conducted to highlight the emerging themes affecting the decision of family businesses to internationalize. Findings The paper stresses how it is important to have an entrepreneurial approach to internationalization of family businesses. Research limitations/implications As more family businesses are born globals, it is important to focus on the positive aspects of internationalization, including emerging markets and gaining important entrepreneurial knowledge. Practical implications Family businesses need to be more innovative and risk-taking in their approach to internationalization as it helps them build their reputation and increase performance. Originality/value As there are limited studies about family entrepreneurship and internationalization in terms of a broad view of family, this paper takes an inclusive approach to the changing nature of how a family is defined in today’s global society.

scholarly journals An Overarching Review on Delay Analyses in Construction Projects

Buildings ◽  
2021 ◽  
Vol 11 (3) ◽  
pp. 109
Author(s):  
Murat Çevikbaş ◽  
Zeynep Işık
Keyword(s):  
Construction Industry ◽  
Construction Projects ◽  
Web Of Science ◽  
Delay Analysis ◽  
Future Studies ◽  
Main Research ◽  
Research Areas ◽  
Road Map ◽  
Research Themes ◽  
Research Domains

Numerous studies have been conducted by researchers on the delay analysis topic, which is one of the primary areas of scientific study due to the effects of delays on time and cost in construction projects. Following fruitful contributions made by the researchers, it is believed to be extremely important to summarize the existing studies in terms of being a road map for future studies and practitioners. In this context, not only does this study aim to detect the most significant authors, sources, organizations and countries contributing to the improvement of delay domain in the construction industry concerning delay analyses worldwide but also to provide the researchers with extensive insights concerning the prominent research themes, trends and gaps in the literature. Hence, 168 documents related to delay analyses from 1982 to 11 February 2021 were detected through the Scopus Database and the Web of Science Database, and scientometric analyses were conducted via VOSviewer software. By evaluating the related research, two main research areas were detected in this field, namely; improving the delay analysis methods and resolving the disputes before they occur. This study is believed to make theoretical and practical contributions in that it examines the delay analysis topic in all aspects such as prominent institutions, countries, authors and sources, synthesizes the data and highlights possible research domains, gaps and trends concerning the delay analysis topic in construction industry.

Personal Predictors of Parents’ Educational Aspirations for their Children with Disabilities

2021 ◽  
Vol 35 (1) ◽  
Author(s):  
Janusz Kirenko ◽  
Piotr Alfred Gindrich
Keyword(s):  
Social Support ◽  
Children With Disabilities ◽  
Educational Aspirations ◽  
Research Problem ◽  
Self Esteem ◽  
Future Research ◽  
Coping With Stress ◽  
Mothers And Fathers ◽  
Main Research ◽  
Research Areas

In order to address the main research problem, the authors determined the correlation between personal predictors, i.e. the level of self-esteem measured by Fitts’ Tennessee Self-Concept Scale, the styles of coping with stress examined by Endler & Parkers’ Coping Inventory for Stressful Situations, the intensity of social support measured by Norbeck Social Support Questionnaire, and the level of educational aspirations of parents of children with disabilities, assessed by K. Parental Aspirations Questionnaire. The research involved 247 mothers and fathers of children with visual, auditory, motor and intellectual disabilities. Only full families were investigated. The research relied on multiple step-wise regression analysis, factor analysis, and path analysis for mothers and fathers separately. The high level of aspirations for the education of children with disabilities was dependent on the positive self-esteem of both mothers and fathers. The article presents a discussion of the results, study limitations, practical implications and future research areas.

scholarly journals Research challenges and opportunities in the Caribbean area: first bibliometric study in the French West Indies, from 1989 to 2018

2021 ◽  
Vol 45 ◽  
pp. 1
Author(s):  
Cédric Contaret ◽  
Raymond Cesaire ◽  
Jacqueline Deloumeaux ◽  
Rémi Neviere ◽  
Dabor Resiere ◽  
...  
Keyword(s):  
Scientific Output ◽  
University Teaching ◽  
University Hospital ◽  
Teaching Hospitals ◽  
Clinical Neurology ◽  
Collaborative Partnerships ◽  
Main Research ◽  
Research Areas ◽  
Challenges And Opportunities ◽  
The University

Objective. To analyze, describe, and quantify the collaborations and scientific output of the two university teaching hospitals of Martinique and Guadeloupe, at the regional, national, and international level. Methods. A bibliometrics analysis was performed from the international databases Web of Science and PubMed, for the period from 1989 to 2018, inclusive (30 years). Three types of bibliometric indicators were used, namely quantitative indicators, performance indicators, and organization-specific indicators. Affiliations of the first and last authors were identified from PubMed. Results. Between 1989 and 2018, a total of 1 522 indexed articles were published with at least one author affiliated to either the University Hospital of Martinique (n = 827) or the University Hospital of Guadeloupe (n = 685). The majority of articles were in category Q1 (35.8% for Martinique and 35.2% for Guadeloupe). In Martinique, over the last 30 years, the three main research areas have been clinical neurology, ophthalmology, and surgery, together representing 28.7% of all research areas, with the highest number of articles published in the field of clinical neurology (n = 81). In the University Hospital of Guadeloupe, the area of hematology was largely represented, with 79 articles published. For both hospitals, the first and last authors of the article published were mainly from mainland France Conclusions. This quantitative analysis shows the development of medical and scientific research in Martinique and Guadeloupe over the last three decades, as well as the extent of their collaborative partnerships at the national and international levels.

scholarly journals Endogamy, the intensity of assortative intra-ethnic marriage of ossets (the end of ХХ century)

2019 ◽  
pp. 51-53
Author(s):  
Г.И. Ельчинова ◽  
З.К. Гетоева ◽  
В.В. Кадышев ◽  
М.Ю. Джаджиева ◽  
Р.А. Зинченко
Keyword(s):  
Epidemiological Study ◽  
Population Genetic ◽  
Medical Genetics ◽  
Research Centre ◽  
Standard Protocol ◽  
Genetic Characteristics ◽  
The North ◽  
And Migration ◽  
North Ossetia ◽  
Endogamy Index

Генетико-эпидемиологическое обследование населения республики Северная Осетия-Алания проводится сотрудниками лаборатории генетической эпидемиологии ФГБНУ «МГНЦ». В рамках стандартного протокола исследования проводится изучение максимально возможного числа популяционно-генетических характеристик. На основании 27583 брачных записей проанализированы индекс эндогамии, интенсивность метисации и этническая брачная ассортативность в 8 районах Северной Осетии и г. Владикавказе. Выявлены различия этих брачно-миграционных характеристик между двумя субэтносами - иронцами и дигорцами. Дигорцы характеризуются более высокой эндогамностью и более низкой метисацией, чем иронцы. Genetic epidemiological study of the population of the North Ossetia-Alania Republic, Russia, is caring out by the Laboratory of Genetiс Epidemiology of Research Centre for Medical Genetics (Moscow, Russia).Within the framework of the standard protocol we study the maximum of possible population-genetic characteristics. Based on the 27583 marriage records, the index of endogamy, the intensity of metisation and ethnic marriage assortativness in 8 regions of North Ossetia and Vladikavkaz have been analyzed. The differences in the marriage and migration characteristics are revealed for two subethnoses: the Irons and the Digors. The Digors have a higher value of endogamy index and a lower metisation level than the Irons have.

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