Биология ва тиббиёт муаммолари 2024 №6 (157)

Тема статьи

RESEARCH FOR GENETIC DETERMINANTS WHICH MAKE INDIVIDUALS SUSCEPTIBLE TO ARTERIOVENOUS MALFORMATIONS (397-399)

Авторы

Erkinova Sarafroz Aftondilovna, Madjidova Yakutkhon Nabievna

Учреждение

Tashkent Pediatric Medical Institute, Republic of Uzbekistan, Tashkent

Аннотация

Arteriovenous malformations (AVM) are anomalies of the arterial-venous capillary interface. They are marked by the formation of tangles of dysplastic cerebral arteries and veins that connect in a vascular focus without the presence of a typical intermediate parenchyma. The word "malus" means awful, bad, and "formatio" means formation. A tiny microshunt does not develop into a large AVM and a nidus type because AVM size and architectural type represent a genetically established particular phenotypic manifestation. Hypertrophied artery walls (afferents, feeders), a large number of arteriovenous shunts, a tangle of which develops the malformation's body (nidus), and dilated draining veins are characteristics of an AVM.

Ключевые слова

arteriovenous malformations, brain, vascular pathology, genetics.

Литературы

1. Achrol A.S. et al., “Tumor Necrosis Factor–238G>A Promoter Polymorphism Is Associated With Increased Risk of New Hemorrhage in the Natural Course of Patients With Brain Arteriovenous Malformations.” // Stroke. 2006;37:231-234. 2. Arnold T. et al. “The importance of microglia in the development of the vasculature in the central nervous system.” // Vasc. Cell 2013, 5, 12. 3. Berman M.F. et al., “The epidemiology of brain arteriovenous malformations.” // Neurosurgery 2000;47:389-396. 4. Crawford P.M., et al “Arteriovenous malformations of the brain: natural history in unoperated patients.” // Neurosurgery, and Psychiatry, vol. 49, pp. 1–10, 1986. 5. Eerola I. et al. "Capillary Malformation–Arteriovenous Malformation, a New Clinical and Genetic Disorder Caused by RASA1 Mutations". // Am J Hum Genet 2003; 73: 1240–1249. 6. Eilken H.M. et al “Dynamics of endothelial cell behavior in sprouting angiogenesis.” // Curr. Opin. Cell Biol. 2010, 22, 617–625. 7. Friedman W.A. et al “Linear accelerator radiosurgery for arteriovenous malformations: the relationship of size to outcome.” // J. Neurosurg, vol. 82, pp. 180–189, 1995. 8. Garcin B. et al. “Epileptic seizures at initial presentation in patients with brain arteriovenous malformation.” // Neurology 2012;78:626-631. 9. Hernesniemi J.A. et al. "Natural history of brain arteriovenous malformations: a long-term follow-up study of risk of hemorrhage in 238 patients." // Neurosurgery.-2008.-Vol.63., №5-P.823–831. 10. Langer D.J. et al. “Hypertension, Small Size, and Deep Venous Drainage Are Associated with Risk of Hemorrhagic Presentation of Cerebral Arteriovenous Malformations.” // Stroke 2009;40:e694-702. 11. Lawton M.T. et al. “Brain arteriovenous malformations.” // Nature reviews Disease primers 2015;1:15008. 12. Leblanc G.G. et al. “Biology of Vascular Malformations of the Brain.” // Stroke 2009;40:e694-702. 13. Mansmann U. et al. “Factors associated with intracranial hemorrhage in cases of cerebral arteriovenous malformation.” // Neurosurgery, vol. 46, no. 2, pp. 272–9. 14. Murphy P.A. et al. “Constitutively active Notch4 receptor elicits brain arteriovenous malformations through enlargement of capillary-like vessels.” // Proc Natl Acad Sci 2014; 111: 18007–18012. 15. Nikolaev S.I. et al "Somatic Activating KRAS Mutations in Arteriovenous Malformations of the Brain". // The New England journal of medicine 2018;378:250-261. 16. Pont-Lezica L. et al. "Physiological roles of microglia during development". // Journal of Neurochemistry, 119(5), 901–908. 17. Rangel-Castilla L. et al “Molecular and cellular biology of cerebral arteriovenous malformations: a review of current concepts and future trends in treatment.” // Neurosurgical focus 2014;37:E 18. Reemst K. et al. “The Indispensable Roles of Microglia and Astrocytes during Brain Development.” // Front. Hum. Neurosci. 2016, 10, 566. 19. Walcott B.P. et al. “Pial arteriovenous fistulae in pediatric patients: associated syndromes and treatment outcome,” // J Neurointerv Surg 2013; 5: 10–14. 20. Walker E.J. et al. “Arteriovenous Malformation in the Adult Mouse Brain Resembling the Human Disease.” // Ann Neurol 2011; 69: 954–962.