Multiple sclerosis (MS) is a serious, incurable neurological disease. In 2009, the ANZgene studies detected the suggestive association of located upstream of CD40 gene in chromosome 20q13 (p = 1.3×10−7). Identification of the causal variant(s) in the CD40 locus leads to a better understanding of the mechanism underlying the development of autoimmune pathologies. We determined the genotypes of rs6074022, rs1883832, rs1535045, and rs11086996 in patients with MS (n = 1684) and in the control group (n = 879). Two SNPs were significantly associated with MS: rs6074022 (additive model C allele OR = 1.27, 95% CI = [1.12–1.45], p = 3×10−4) and rs1883832 (additive model T allele OR = 1.20, 95% CI = [1.05–1.38], p = 7×10−3). In the meta-analysis of our results and the results of four previous studies, we obtain the association p-value of 2.34×10−12, which confirmed the association between MS and rs6074022 at a genome-wide significant level. Next, we demonstrated that the model including rs6074022 only sufficiently described the association. From our analysis, we can speculate that the association between rs1883832 and MS was induced by LD, whereas rs6074022 was a marker in stronger LD with the functional variant or was the functional variant itself. Our results indicated that the functional variants were located in the upstream region of the gene CD40 and were in higher LD with rs6074022 than LD with rs1883832.

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Background: The article is devoted to one of the most common neurodegenerative diseases in the world-Parkinson's disease (PD), the prevalence of which in Russia reaches 140-150 people per 100,000 people. The clinical and anamnestic profile of a patient with PD is presented, the prevalence of motor and non-motor symptoms is reflected, and a comparative characteristic of the neurological deficit in the Siberian population of patients with other cohorts of patients with Parkinson's disease in different countries and ethnic groups is presented. Methods: We studied 140 patients with Parkinson's disease. A comprehensive assessment of neurological status was performed using the "Unified Parkinson's Disease Rating Scale (UPDRS)." In addition, we used the Beck Depression and MoCA scale test. Assessment of the presence and severity of olfactory dysfunction was performed using the Sniffin Stick odor identification test. The stage of PD was evaluated according to the classification of M. M. Hoehn and M. D. Yahr. Results:The cohort of the study was dominated by overweight patients with a higher level of education, with concomitant arterial hypertension, coronary heart disease, and dyslipidemia. The severity of motor and most non-motor symptoms directly correlates with the duration of PD and the stage of the disease. The predominant form of the disease was a mixed form, which was also noted in research cohorts in Canada and the UK. The Siberian cohort tends to be more prevalent in hyposmia, daytime sleepiness, orthostatic hypotension, and depressive and REM disorders. Conclusion:Our data show the importance of a comprehensive assessment of both motor and non-motor neurological deficits as well as the analysis of comorbid disorders and risk factors for the occurrence and progression of Parkinson's disease. They also show the prevalence of certain motor and non-motor symptoms in the Siberian cohort of patients with Parkinson's disease.

Myxoma of the heart is the most common variant of a primary benign heart tumor, which is complicated in some cases by embolic complications. Myxoma of the heart is often a diagnostic puzzle in young patients due to a low-symptom or masked clinical manifestations. This case report presents a 37-year-old patient with the onset of left atrial myxoma with mitral valve obstruction manifested with syncope, associated traumatic brain injury, rightsided hemihypesthesia, and speech difficulties. The examination showed multiple lacunar ischemic brain lesions in the middle cerebral artery basin. Transthoracic echocardiography (TTE) showed a large left atrial myxoma with prolapse into the left ventricle. Myxoma was successfully removed. The case highlights the complexity of the diagnosis of cardiac myxoma, associated with the variable clinical manifestations from low-symptomatic cases to the development of cardioembolic complications. Considering recurrent embolic complications, a quick identification of the causes of ischemic stroke in patients without cardiovascular risk factors is important. TTE is a highly specific and sensitive method for the diagnosis of cardiac myxoma. Surgery is a priority treatment method, characterized by a good prognosis for sporadic single-chamber isolated myxomas.

To study influence of polymorphic loci rs1800629 (TNFa), rs6074022 (CD40), rs187238 (IL-18), rs10492972 (KIF1B), rs4149584 (TNFRSF1A) on clinical features of multiple sclerosis (MS) subject to sex belonging in Omsk city and Omsk region. Methods: neurological examination, molecular-genetic, statistic analyses. 265 patients with multiple sclerosis and 576 healthy controls was observed. Results: observable polymorphic loci don’t associated with sex. In group of men dysfunction of the pyramidal, visual, pelvic functions on course of MS, in women group — dysfunction of the pyramidal functions, duration of the disease, height, CD40 genotipe.