Browsing by Author "Seksenbayeva, Nurgul Bakytkyzy"

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    GENETIC MARKER OF THE RISK OF THE DEVELOPING BRAIN ARTERIOVENOUS MALFORMATIONS AMONG KAZAKHSTAN POPULATION
    (Nazarbayev University School of Sciences and Humanities, 2024-04) Seksenbayeva, Nurgul Bakytkyzy
    Brain arteriovenous malformations (brain AVMs) are a relatively rare but life-threatening neurovascular disease. It is characterized by the presence of aberrant blood vessel tangles, or "bags of worms" of various shapes and sizes, formed as a result of the random interweaving of pathologically altered vessels, while direct drainage of blood from the arterial system to the venous system occurs bypassing capillary network. As a result of the pressure in the vessels, veins increase and lead to their detrimental consequences such as intracranial hemorrhage as a result of rupture, stroke, seizures, long-term effects depending on the location of the tangles on the human brain part, even fatality. Recently brain AVM is the controversial theme in neurology, since pathogenesis of brain AVM debate over whether a disease is congenital or acquired which arise as a result of genetic predisposition. There are several hypotheses regarding the occurrence of brain AVM. AVMs belong to a heterogeneous group of dysembryogenetic formations of angiomatous structure and considered as congenital disease, while mean age of patients with brain AVM which vary between 20-40 ages verify that brain AVM is arised at a postembryonic period. De novo study of Brain AVM suggests that genesis of brain AVM formation is explained by processes such as angiogenesis, vasculogenesis, and inflammatory response since mutations can be modified during listed processes. However, the gap around the brain AVM is directly associated with the pathogenesis of disease since it is still unclear and not fully understood. Since brain AVM is asymptomatic and arises among the young population, it’s significant to find the exact genetic marker and explain its causative mechanism and further investigate the preventing or treating options among Kazakhstan population. Therefore the main purpose of this study is to find the susceptible gene of developing brain AVM...