Temporal lobe epilepsy (TLE) is one of the most common and refractory forms of epilepsy, with a different etiology. According to experimental and clinical studies, the transformation of the normal pattern of brain neuron activity into paroxysmal is accompanied by changes in the expression of cytokines and neurotrophins in the hippocampus and temporal cortex. Modulation of the expression of the brainderived neurotrophic factor (BDNF) may be associated with the carriage of the single nucleotide polymorphism (SNP) rs6265 in BDNF gene. Research groups have shown increased expression of BDNF in the hippocampus and temporal cortex in patients with pharmacoresistant epilepsy. Independent studies have demonstrated the role of the Il-1B gene encoding the proinflammatory cytokine IL1B in the development of inflammatory reactions and structural mediobasal TLE with hippocampal sclerosis.

Objective: to study the association of the carrier SNPs rs16944, rs1143634 of IL-1B gene and rs6265 of BDNF gene in the development of TLE.

Patients and methods: using RT-PCR, we identified carriers of SNPs rs1143634 and rs16944 in Il-1B gene and rs6265 in BDNF gene, from samples of 84 patients with TLE and 203 Caucasian healthy volunteers in the Siberian Federal District.

Results: we have shown that the carriage of a high-producing allele C (OR = 2.01; 95% CI: 1.31-3.08; p = 0.001) and the homozygous genotype CC (OR = 2.48; 95% CI: 1.47-4.17; p = 0.001) SNPs in IL-1B gene (rs1143634) are statistically significantly associated with TLE in Siberian population. There were no statistically significant differences in the carriers of SNPs in IL-1B gene (rs1143634 and rs16944) and in BDNF gene (rs6265) with clinical and anamnestic features of TLE (p> 0.05). Association of carriers of SNPs rs6265 in BDNF gene with the development of TLE was not detected (χ2 = 0.3; p = 0.86).

Conclusions: we detected association of carriers of the high-producing allele C and the homozygous genotype CC (rs1143634) in IL1B gene with temporal lobe epilepsy. 

Temporal lobe epilepsy (TLE) is one of the most common and refractory forms of epilepsy, with a different etiology. According to experimental and clinical studies, the transformation of the normal pattern of brain neuron activity into paroxysmal one 3 is accompanied by changes in the expression of cytokines and neurotrophins in the hippocampus and temporal cortex. Modulation of the expression of the neurotrophic brain factor (Brain-Derived Neurotrophic Factor, BDNF) may be associated with the carrier of the single nucleotide polymorphism (SNP) of the rs6265 BDNF gene. The research groups have shown increased expression of BDNF in the hippocampus and temporal cortex in patients with drug resistant epilepsy. Independent studies have demonstrated the role of the Il1B gene, encoding pro-inflammatory cytokine interleukin (IL) 1β, in the development of inflammatory reactions and structural mediobasal temporal epilepsy with hippocampal sclerosis.

The purpose of the research is to study the association of the carriers of the SNP rs16944 and rs1143634 of the IL1B gene and rs6265 of the BDNF gene with the development of temporal lobe epilepsy.

Patients and methods. We carried out a molecular genetic study of the carrier of SNPs rs1143634 and rs16944 of the Il1B and rs6265 gene of the BDNF gene using real-time polymerase chain reaction (RT-PCR) in 84 patients with TLE and 203 Caucasian healthy volunteers living in the Siberian Federal Region.

Results. The carriage of a high-producing allele C (odds ratio, OR 2.01; 95% confidence interval, CI 1.31–3.08; p = 0.001) and the homozygous genotype CC (OR 2.48; 95% CI 1.47–4, 17; p = 0.001) of SNPs of the IL1B gene (rs1143634) are statistically significantly associated with the development of TLE in the population under study. No statistically significant differences in the carriers of the SNPs of the Il1B (rs1143634 and rs16944) gene and BDNF (rs6265) with the clinical features and course of TLE were revealed (p> 0.05). The association of carriers of SNPs rs6265 of the BDNF gene with the development of TLE was not detected (χ2 = 0.3; p = 0.86) as well.

Conclusion The association of the high-producing allele C carrier and the homozygous genotype CC (rs1143634) of the IL1B gene with TLE has been established. 

Aim. To assess the prognostic significance of cognitive impairments detected using the MMSE scale in patients at high and very high cardiovascular risk (CVR).

Patients and methods. The study included men and women aged 40-75 years at high and very high CVR, determined in accordance with the recommendations of the European Society of Cardiology on cardiovascular prevention in 2016. The study included 111 patients at high and very high CVR. High CVR was established in 30 (27,0%) patients. Very high CVR was established in 81 (73,0%) patients. The median MMSE score in the studied group of patients was 28,0 (27,0-28,0). 71 (63,9%) patients scored ≥28 points on the MMSE scale. Mild cognitive impairment (MCI) were detected in 40 (36,1%) people. Among the examined patients there were no patients with dementia. The duration of the observation period was 24,6 (14,4-34,5) months. The combined end point was cardiovascular death, nonfatal myocardial infarction or unstable angina, requiring hospitalization, nonfatal stroke, coronary revascularization.

Results. Events constituting the combined endpoint occurred in 40 (36,0%) patients. According to the results of the Kaplan-Meier analysis, patients with MCI differed significantly lower survival over the observation period of more than 2 years. According to the Cox regression data, MCI was associated with an increase in the relative risk of adverse cardiovascular events constituting the end point, by 2,56 times (95% CI 1,22-5,33; p = 0,013).

Conclusion. The presence of mild cognitive impairment was associated with an increase in the relative risk of adverse cardiovascular events.

Levetiracetam (LEV) is a highly effective antiepileptic drug (AED). However, unwanted behavioral adverse drug reactions (ADR), such as aggression, irritability, hyperexcitability, and anxiety occur in almost 30% of cases. Recent researches have shown that personality traits may predispose to the emergence of LEV-induced ADR.

Purpose: To determine the genetic risk factors for the development of behavioral ADR in patients with epilepsy, taking LEV.

Materials and methods: Single nucleotide variants (SNVs) were chosen according to their importance for the development of impulsivity and aggression. At stage I, the investigation of dose-dependent effect for behavioral ADRs development was performed in 179 patients with epilepsy, taking LEV, which were divided into 4 groups depending on age and the presence of ADRs. At stage II, molecular genetic research of SNVs rs1800497 of DRD2 gene (DRD2/ANKK1 Taq1A), rs4680 of COMT gene, and rs1611115 of DBH gene was done.

Results: No statistically significant differences in LEV daily dose in patients with and without ADRs both in children (696.1 and 500.0 mg/day, respectively, p = 0.087) and adults (750.9 and 750.9 mg/day, respectively, p = 0.13) were found. The same data were obtained for blood LEV concentration (31.6 and 27.3 mg/ml, p = 0.12 in children; 23.1 and 17.6 mg/ml, p = 0.12 in adults, respectively). Statistically significant association was shown between heterozygous CT genotype of SNV rs1611115 and the frequency of both behavioral ADRs (p = 0.042; OR 3.38; 95% CI 1.25-9.14) and CNS associated ADRs in general (p = 0.036; OR 3.29; 95% CI 1.29-8.44). Higher impulsivity indicators were determined in carriers of (CT + TT) genotypes of SNVs rs1800497 (p<0.05) and rs1611115 (p<0.01) in comparison with carriers of CC genotype. No statistically significant intergroup differences were found for rs4680 SNV of COMT gene.

Conclusion: The dose-dependent effect of behavioral ADRs development is absent both in children and adults taking LEV. Increased impulsiveness in patients with epilepsy taking LEV was associated with SNVs rs1800497 and rs1611115.

Behavioral ADRs are associated with SNV rs1611115 of DBH gene, which can be considered as one of the potential genetic predictors of behavioral ADRs and impulsivity.

This article outlines recent findings on genetics of juvenile myoclonic epilepsy (JME), where JME occurrence is associated with polymorphic allelic variants in BRD2 gene (locus EJM3) and GJD2 gene (locus EJM2).

Objective: To establish risk factors for development of JME in the context of genetic predisposition; specifically, polymorphic allelic variants rs206787 and rs516535 in the BRD2 gene and rs3743123 in the GJD2 gene.

Materials and Methods: Using RT-PCR, we identified carriers of single nucleotide polymorphisms (SNPs) rs206787 and rs516535 in gene BRD2 and rs3743123 in gene GJD2, from samples of 79 JME patients and 150 healthy volunteers of European descent residing in the Siberian Federal District.

Results: We found complete linkage disequilibrium between studied loci in patients with JME and healthy controls, however there was no association between SNPs rs206787 and rs516535 and JME development in our study population (р > 0,05). Haplotype TT/TT for SNPs rs206787 and rs516535 in the BRD2 gene associated with photoparoxysmal response (OR = 3,6; 95% CI 1,37 – 9,48; p = 0,02) in JME patients. Homozygosity of allele T (rs3743123) in the GJD2 gene was associated with risk of JME development in our study population (OR = 2,66; 95% CI 1,24 – 5,74; р = 0,04).

Conclusion: These results strongly suggest that genotyping JME patients of European descent living in Siberia to identify carriers of haplotype TT/TT in BRD2 SNPs (locus EJM3) and T allele (rs3743123) in the GJD2 gene will enable personalised approach to JME diagnosis and management, as well as identification of high-risk individuals in affected families.

Early diagnosis of susceptibility to the use of psychoactive substances (PAS) and the formation of addiction is a pressing problem of addictology. The development of addiction to psychoactive substances involved a reward system, which also plays a key role in the modulation of nociception. PRDM12, associated with innate insensitivity to pain, is involved in neurogenesis and affects the properties of nerve cells.

Objective: to conduct a comparative assessment of pain sensitivity in people with mental and behavioral disorders caused by the use of psychoactive substances in healthy individuals and in the group of people with episodic use of PAS depending on the rs10121864 genotype of the PRDM12 gene.

Patients and methods. Surveyed 103 people with addiction to PAS (F1x.2), 114 conditionally healthy individuals, 36 people, occasionally using psychoactive substances (risk group). Thresholds of pain sensitivity and tolerability of pain were determined by the method of tensoalgometry; using a visual analogue scale to determine the subjective assessment of pain thresholds. Genotyping was performed on the rs10121864 polymorphism of the PRDM12 gene.

Results and discussion. The distribution of rs10121864 genotypes of the PRDM12 gene in the comparison groups was statistically significantly different. The calculation of the odds ratio showed that among individuals who occasionally use PAS, the risk of developing dependence on PAS is several times higher among carriers of the mutant A allele (OR=2.52; 95% Cl=1.42–4.50) rs10121864 and its homozygous AA genotype (OR=6.66; 95% Cl=1.50–29.54) than carriers of alternative genotypes. An association rs10121864 PRDM12 was also identified with an indicator of the subjective assessment of pain sensitivity among people with addiction to PAS. Thus, in the carriers of the mutant allele A (genotypes AA and AG), this indicator was significantly lower than in carriers of the GG genotype.

Conclusion Associations of allele A and the AA rs10121864 genotype of the PRDM12 gene are identified with the risk of developing dependence on PAS and with the indicator of the subjective perception of the upper pain threshold.

In last decades, there is evidence of the relationship of Parkinson's disease (PD) and essential tremor (ET). In addition, PD often develops when patient already suffers from ET. Today, the problem of combination between PD and ET is relevant since patients with ET have 10 times higher risk of developing PD, however, due to the diagnostic difficulties and low awareness of doctors about this nosological phenomenon, the diagnosis “PD developed from ET” is complicated. In this review, we have demonstrated a modern understanding of the clinical, epidemiological, pathogenetic and neuroimaging features of the combination of PD and ET.

This article describes the definition, epidemiology, etiological factors, the classification of infertility, the relationship of mental health and infertility in women. The analysis of the problems of idiopathic infertility from gynecological and psychiatric positions is carried out. Psychological factors affecting to the reproductive function of women revealed. Mental health disorders that potentiate infertility are described. Issues related to inadequate, inappropriate diagnosis of the mental state of women with reproductive disorders, masking of certain forms of psychopathology with functional gynecological disorders, the presence of obstetricians in the field of women's mental health, which may cause the failure of infertility therapy.