Presented was a review of the most recent literature devoted to the main genes responsible for the formation of atherothrombosis of the cerebral vessels. The aim was to analyze the data in the literature regarding several genetic factors responsible for the development of cerebrovascular disease, particularly ischemic stroke. Conducted was an electronic search of full-text and abstract-only versions of articles, which cover the aspects of genetic susceptibility to ischemic stroke, according to the databases PUBMED, OMIM and GENE using the following main keywords: «cerebrovascular disease», «ischemic stroke», «cerebral atherosclerosis», «gene polymorphism», «mutation». Medical diagnostics today has modern technologies of genotyping, which make it possibe to accurately determine the genotype of a person, thus opening up wide prospects for the development of personalized medicine. The majority of genetic variations is due to single nucleotide substitutions that lead to quantitative changes in expression or affect the biological properties of the proteins. Approximately 10 million single nucleotide polymorphisms are known, however their biological significance is not always obvious. Currently hereditary predisposition to atherosclerosis is being actively studied, identified were the genetic variants of genes of blood lipid metabolism, endothelial dysfunction, hemostatic system, and proteins involved in platelet aggregation and thrombosis. An individual «genetic passport» makes it possible to determine the risk factors for atherosclerotic lesions of blood vessels in a specific individual long before the development of the disease. Determination and investigation of groups of genes that are responsible for the development of atherosclerosis in people living in specific areas is still of utmost relevance. Based on these studies it is possible to establish specific test systems for the Republic of Tatarstan for diagnosing predisposition to the development of certain forms of atherosclerosis, the widespread introduction of which will significantly reduce the mortality and disability of the population, the economic and social damage.

Personalized medicine involves the use of methods of genomics and proteomics by physicians for early diagnosis, prediction of the nature of the disease course and the choice of medicines and their doses based on personalized characteristics of the individual patient. Advances in the study of the human genome make it possible to reveal the interrelation between the individual mutations in the human genes (polymorphisms) and predisposition to certain diseases. Currently there are more than 10 million single-nucleotide polymorphisms in the human genome, however their biological role remains poorly understood. On the basis of a literature search of electronic full-text and abstract-only versions of articles, which was conducted in the PUBMED, OMIM and GENE databases, collected was the information on genetic predisposition to systemic atherosclerosis. The review is dedicated to polymorphisms of the major genes that play a role in the pathophysiology of atherosclerosis of the lower extremities.

The analysis of diagnostics efficiency of the spine and spinal cord lesions in children. Material and Methods. A retrospective analysis of 622 cases of stable spine lesions without spinal cord compression in children was performed. Sensitivity and specificity of clinical, radiological and neurophysiologic methods of diagnostics were estimated at each stage of pathological process. The importance of each diagnostic method at various stages was evaluated. Results. A tendency to specificity enhancement of clinical and radiological examinations, growth of prognostic value of positive results and decline in importance of negative results with time was revaled. Sensitivity and specificity of primary clinical examination results are rather high, but prognostic value of positive and negative results is low. Time dependence factor is well-defined at diagnosis of spinal cord lesions. Conclusion. To determine a degree of lesion the data of clinical and radiological examinations are more valuable at clinical subcompensated and decompensated stages, additional methods (MRI, ENMG) are more important at the stage of clinical compensation.

Personalized medicine involves the use of genetic methods by physicians for early diagnosis, prediction of the nature of the disease course and the choice of medicines and their doses based on personalized characteristics of the individual patient. Advances in the study of the human genome make it possible to reveal the interrelation between different varieties of alleles of human genes (polymorphism) and predisposition to certain diseases. Currently there are more than 10 million single-nucleotide polymorphisms in the human genome, but their biological role remains poorly understood. On the basis of a literature search of electronic full-text and abstract-only versions of articles’, which was conducted in the PUBMED, OMIM and GENE databases, collected was the information on genetic predisposition to systemic atherosclerosis. The review is dedicated to polymorphisms of the major genes that play a role in the pathophysiology of atherosclerosis of the lower extremities.