Год публикации:
Все года
2018
2019
2020
Название |
Дата публикации |
Коллектив авторов |
Журнал |
DOI |
Индекс цитирования |
Ссылка на источник |
Genome damage in children with classical Ehlers-Danlos syndrome - An in vivo and in vitro study
|
01.11.2019 |
Aghajanyan A.
Fucic A.
Tskhovrebova L.
Gigani O.
Konjevoda P.
|
European Journal of Medical Genetics |
10.1016/j.ejmg.2018.09.013 |
0 |
Ссылка
© 2018 Ehlers-Danlos syndrome (EDS) is a heritable connective tissue disorder characterized by skin hyperextensibility, abnormal wound healing, and joint hypermobility with prevalence 1:20 000. Its incidence is probably underestimated due to unknown number of subjects having mild symptoms who may have never been diagnosed through entire life time. Classical EDS is characterized by pathogenic variants of genes encoding type V collagen. The biological effects and health risks of patients with EDS exposure to low doses of ionizing radiation is poorly understood. The aim of this study was to investigate biological effect of low doses of ionizing radiation in children with EDS. Background values of chromosome aberrations in children suffering from classical EDS were determined and compared with control subjects. The in vitro experiment was performed by γ-irradiation of blood lymphocytes from EDS patients and healthy subjects at low doses (0.1, 0.2 and 0.3 Gy). Results show a significant increase level of spontaneous and radiation-induced chromosomal aberrations in children suffering from EDS in comparison with the control subjects (p < 0.05). In conclusion, children with EDS express higher background chromosome aberration frequency and increased radiosensitivity. These findings suggest specific susceptibility of EDS patients and importance of future investigation on risks of diagnostics and therapy which include radiation and genotoxic agents.
Читать
тезис
|
The present-day view on the pathogenesis and prevention of life-threatening complications of pregnancy and delivery in patients with mesenchymal dysplasias (marfan syndrome, ehlers-danlos syndrome, rendu-weber-osler syndrome)
|
01.01.2018 |
Makatsaria A.
Radetskaya L.
|
Akusherstvo i Ginekologiya (Russian Federation) |
|
0 |
Ссылка
© Bionika Media Ltd. Objective. To systematize the current medical knowledge and experience in the management of pregnancy and delivery in patients with mesenchymal dysplasias (Marfan syndrome, Ehlers-Danlos syndrome, Rendu-Osler syndrome). Material and methods. The paper includes the data of foreign investigations and medical guidelines for this problem, which have been published in the past 5 years. Results. The paper describes the molecular bases of each syndrome, diagnostic criteria, and their clinical manifestations in various organs and systems: musculoskeletal and cardiovascular systems, the organ of vision, etc. Such patients during pregnancy are at extremely high risk for life-threatening complications. Conclusion. A successful outcome of pregnancy requires early diagnosis and a multidisciplinary approach throughout during pregnancy and delivery.
Читать
тезис
|