Rett syndrome in Russia and abroad: a scientific historical review
This review presents the theoretical, practical and geographical aspects of Rett syndrome and other rare diseases, according to the data of the last VIII International Congress in Russia, and the main publications on Rett syndrome. The issues highlighted by the participants remain relevant and deter...
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| Format: | Article |
| Language: | Russian |
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Ltd. “The National Academy of Pediatric Science and Innovation”
2020-07-01
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| Series: | Rossijskij Vestnik Perinatologii i Pediatrii |
| Subjects: | |
| Online Access: | https://www.ped-perinatology.ru/jour/article/view/1146 |
| _version_ | 1797875169200439296 |
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| author | S. G. Vorsanova Yu. B. Yurov V. Yu. Voinova I. Yu. Yurov |
| author_facet | S. G. Vorsanova Yu. B. Yurov V. Yu. Voinova I. Yu. Yurov |
| author_sort | S. G. Vorsanova |
| collection | DOAJ |
| description | This review presents the theoretical, practical and geographical aspects of Rett syndrome and other rare diseases, according to the data of the last VIII International Congress in Russia, and the main publications on Rett syndrome. The issues highlighted by the participants remain relevant and determine the direction of modern studies. The presentations made at the symposium helped to form a global concept of the molecular and cellular mechanisms of Rett syndrome and a number of rare genetic/genomic diseases. The article presents a number of domestic findings in the field of Rett syndrome and other rare diseases. The authors also present information on rare diseases associated with the Rett-like-phenotype or with mutations/variations of the MECP2 gene sequence copies. The authors consider the identified chromosomal (genomic) disorders / diseases in the context of rare diseases. This approach to the Rett syndrome studies analysis is quite new in the world research practice. We hope this review to become valuable not only for specialists in the field of rare genetic diseases, but also for the scientists and clinicians studying Rett syndrome and for physicians (pediatricians, geneticists, neurologists, psychiatrists) meeting these patients in their practice. |
| first_indexed | 2024-04-10T01:42:16Z |
| format | Article |
| id | doaj.art-5f3fceeb4ebe452a96b6e1e4e52ecf5f |
| institution | Directory Open Access Journal |
| issn | 1027-4065 2500-2228 |
| language | Russian |
| last_indexed | 2024-04-10T01:42:16Z |
| publishDate | 2020-07-01 |
| publisher | Ltd. “The National Academy of Pediatric Science and Innovation” |
| record_format | Article |
| series | Rossijskij Vestnik Perinatologii i Pediatrii |
| spelling | doaj.art-5f3fceeb4ebe452a96b6e1e4e52ecf5f2023-03-13T09:12:48ZrusLtd. “The National Academy of Pediatric Science and Innovation”Rossijskij Vestnik Perinatologii i Pediatrii1027-40652500-22282020-07-01653253110.21508/1027-4065-2020-65-3-25-31884Rett syndrome in Russia and abroad: a scientific historical reviewS. G. Vorsanova0Yu. B. Yurov1V. Yu. Voinova2I. Yu. Yurov3ОСП «Научно-исследовательский клинический институт педиатрии им. академика Ю.Е. Вельтищева» ФГАОУ ВО РНИМУ им. Н.И. Пирогова Минздрава России; ФГБНУ «Научный центр психического здоровья»ОСП «Научно-исследовательский клинический институт педиатрии им. академика Ю.Е. Вельтищева» ФГАОУ ВО РНИМУ им. Н.И. Пирогова Минздрава России; ФГБНУ «Научный центр психического здоровья»ОСП «Научно-исследовательский клинический институт педиатрии им. академика Ю.Е. Вельтищева» ФГАОУ ВО РНИМУ им. Н.И. Пирогова Минздрава России; ФГБНУ «Научный центр психического здоровья»ОСП «Научно-исследовательский клинический институт педиатрии им. академика Ю.Е. Вельтищева» ФГАОУ ВО РНИМУ им. Н.И. Пирогова Минздрава России; ФГБНУ «Научный центр психического здоровья»; ФГБОУ ДПО «Российская медицинская академия непрерывного профессионального образования»This review presents the theoretical, practical and geographical aspects of Rett syndrome and other rare diseases, according to the data of the last VIII International Congress in Russia, and the main publications on Rett syndrome. The issues highlighted by the participants remain relevant and determine the direction of modern studies. The presentations made at the symposium helped to form a global concept of the molecular and cellular mechanisms of Rett syndrome and a number of rare genetic/genomic diseases. The article presents a number of domestic findings in the field of Rett syndrome and other rare diseases. The authors also present information on rare diseases associated with the Rett-like-phenotype or with mutations/variations of the MECP2 gene sequence copies. The authors consider the identified chromosomal (genomic) disorders / diseases in the context of rare diseases. This approach to the Rett syndrome studies analysis is quite new in the world research practice. We hope this review to become valuable not only for specialists in the field of rare genetic diseases, but also for the scientists and clinicians studying Rett syndrome and for physicians (pediatricians, geneticists, neurologists, psychiatrists) meeting these patients in their practice.https://www.ped-perinatology.ru/jour/article/view/1146синдром реттаген mecp2хромосома хмикроделеции участка xq28редкие (орфанные) заболеваниятрансляционная медицина |
| spellingShingle | S. G. Vorsanova Yu. B. Yurov V. Yu. Voinova I. Yu. Yurov Rett syndrome in Russia and abroad: a scientific historical review Rossijskij Vestnik Perinatologii i Pediatrii синдром ретта ген mecp2 хромосома х микроделеции участка xq28 редкие (орфанные) заболевания трансляционная медицина |
| title | Rett syndrome in Russia and abroad: a scientific historical review |
| title_full | Rett syndrome in Russia and abroad: a scientific historical review |
| title_fullStr | Rett syndrome in Russia and abroad: a scientific historical review |
| title_full_unstemmed | Rett syndrome in Russia and abroad: a scientific historical review |
| title_short | Rett syndrome in Russia and abroad: a scientific historical review |
| title_sort | rett syndrome in russia and abroad a scientific historical review |
| topic | синдром ретта ген mecp2 хромосома х микроделеции участка xq28 редкие (орфанные) заболевания трансляционная медицина |
| url | https://www.ped-perinatology.ru/jour/article/view/1146 |
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