Individual neuropsychological characteristics in patients with juvenile myoclonic epilepsy

Background. An association between juvenile myoclonic epilepsy (JME) and nonpsychotic psychiatric and cognitive disorders has been described in recent years. Scientists are trying to link JME with certain personality traits marked by emotional instability. Objective. The goal of our research was to assess the state of cognitive functions in young adult patients with JME–excluding the adverse side effects (ASEs) of antiepileptic drugs (AEDs)–and analyze the level of personality and situational anxiety, neuroticism, and depression in young adult patients with JME. Design. We tested 26 patients with JME and 26 healthy adults with the computer program NS-PsychoTest (Neurosoft Company, RF), a program which is aimed at studying and evaluating neuropsychological characteristics. Results. Our study showed that the frequency of depressive symptoms, according to the cognitive-affective subscale (Beck’s Depression Inventory), in patients with JME was statistically significantly higher than among people without epilepsy. Comorbid personality and nonpsychotic psychiatric disorders are common interdisciplinary problems in JME management. Most practitioners pay attention only to the treatment of seizures caused by JME, and their patients, accordingly, do not receive adequate psychotherapeutic help. Conclusion. Cognitive disorders are often associated with epilepsy, and are a result of a combination of factors. According to our study, in the presence of statistically significant differences in short-term memory and mental performance in patients with JME, compared to healthy young adults, the main indicators of cognitive function in patients with JME generally correspond to the norm. Our findings highlight the etiological heterogeneity of cognitive disorders in JME and the importance of early screening for them

Cytokine Gene Polymorphisms in Chronic Adenoiditis

The aim of our research was to study the multiphase response in a system of pro-inflammatory and anti-inflammatory cytokines due to the additive contribution of homozygous and heterozygous genotypes for the polymorphic allelic variants of the interleukin-1β (IL-1β) and interleukin-4 (IL-4) genes in patients with chronic adenoiditis (CA). Materials and Methods: The study included 388 children with CA. Associations between the IL1B gene (rs1143634) (C+3954T) SNP and the IL-4 gene (rs2243250) (C-589T) SNP and the clinical manifestations and clinical outcome of CA were investigated. Genotyping for the studied SNPs was performed using real-time PCR. The study of genotype-associated cytokine production in accordance with the level of concentration of IL-1β, IL-4 in blood serum with the method of solidphase EIA using horseradish peroxidase as an indicating enzyme was carried out. Results: The presence of homozygous or heterozygous genotypes of the studied SNPs of the IL-1β and IL-4 genes was characterized with genetically determined cytokine-production forming the phenotypical polymorphism. The conducted research into congenital immunity factors with an assessment of genetically determined cytokine production has revealed 5 options of the cytokine response and their corresponding frequencies. We extrapolated the results on clinical and functional outcomes of chronic adenoiditis, which allowed us to identify non-randomness in the nature of chronic adenoiditis as a multifactorial disease. Conclusion: The obtained data are evidence of the phenotypic-genetic heterogeneity of CA

Comparison of Wrist Tapping Parameters in Healthy Adults with and Without Anxiety Using a Modified Original Technique

The aim of the present study was to assess the main characteristics of the tempo-rhythm in healthy adults. Materials and Methods: We examined 60 healthy adults without neurological and endocrinological pathology. Participants were divided into 2 groups. In Group 1 there were 33 adults without deviations on the scale of anxiety and depression were, and in Group 2, there were 27 persons with subclinically expressed anxiety according to the test results. The test was conducted using hospital anxiety and depression scale HADS. (6). The study was conducted using a modified original technique “Method of exogenous rhythmic stimulation influence on an individual human rhythm.” Results: We found that anxiety statistically significant affects the quantitative and qualitative parameters of wrist tapping (individual rhythm and rhythm stability) in healthy adults. Conclusion: The obtained data can be used in neurorehabilitation for patients with a wide range of neurological disorders, including epilepsy

Genetic Biomarkers of Antipsychotic-Induced Prolongation of the QT Interval in Patients with Schizophrenia.

Antipsychotics (AP) induced prolongation of the QT interval in patients with schizophrenia (Sch) is an actual interdisciplinary problem as it increases the risk of sudden death syndrome. Long QT syndrome (LQTS) as a cardiac adverse drug reaction is a multifactorial symptomatic disorder, the development of which is influenced by modifying factors (APs' dose, duration of APs therapy, APs polytherapy, and monotherapy, etc.) and non-modifying factors (genetic predisposition, gender, age, etc.). The genetic predisposition to AP-induced LQTS may be due to several causes, including causal mutations in the genes responsible for monoheme forms of LQTS, single nucleotide variants (SNVs) of the candidate genes encoding voltage-dependent ion channels expressed both in the brain and in the heart, and SNVs of candidate genes encoding key enzymes of APs metabolism. This narrative review summarizes the results of genetic studies on AP-induced LQTS and proposes a new personalized approach to assessing the risk of its development (low, moderate, high). We recommend implementation in protocols of primary diagnosis of AP-induced LQTS and medication dispensary additional observations of the risk category of patients receiving APs, deoxyribonucleic acid profiling, regular electrocardiogram monitoring, and regular therapeutic drug monitoring of the blood APs levels

Association Between IL1B and SCN1A Polymorphism and Febrile Seizures in Children in Siberia

Background: Febrile seizures (FS) are a benign, age-dependent, genetically determined state, in which the child’s brain is susceptible to epileptic seizures occurring in response to hyperthermia. We assessed whether polymorphisms of IL1B and SCN1A genes, encoding the proinflammatory cytokine IL1B and SCN1A, respectively, could help to predict FS development and find a new way to treat FS. Methods: We examined 121 children with FS and 30 children with HTS aged from 3 to 36 months. SNPs rs1143634 and rs16944 of IL1B gene, and rs3812718 and rs16851603 of SCN1A gene were determined by quantitative real-time PCR. Results: The analysis for rs1143634 revealed an association between the CC genotype and increased risk of FS development (OR 6.56; P=0.0008) against the background of acute respiratory viral infection. The same result was obtained for rs16944 (OR 3.13; P=0.04) and an association of two homozygous genotypes CC/CC. For rs3812718, the carriage of heterozygous genotype CT demonstrated a direct relationship with FS development (OR 44.95; P=0.000). Conclusion: Children with high FS risk need preventive treatment and joint observation of a pediatrician, pediatric infectionist, and a neurologist-epileptologist

Associations Between Neuropsychophysiological and Dermatoglyphic Indicators in the Assessment of Human Health

The purpose of this study was to explore the relationship between psycho-physiological markers of human health and dermatoglyphic indicators in young people. Materials and Methods: The study included 920 healthy volunteers aged between 18 and 21 years. All volunteers underwent the following examinations: EEG, an assessment of the anxiety level according to the BAI, and dermatoglyphic scanning. Results: According to the data obtained, there was a statistically significant strong negative correlation between the stress load indicator and dermatoglyphic data, such as the summary delta index (DI) and summary ridge count. A strong positive correlation was found between the percentage of whorls and stress (r=0.88). The predominant increase in anxiety is characteristic of persons with total ridge count (TRC) on the thumb of the right hand in the range from 19 to 23. Conclusion: Results demonstrate the interrelationships (association) between psycho-physiological (anxiety level, stress load indicator) and dermatoglyphic markers (DI, TRC and whorl pattern type) in young healthy people

Cytokine Imbalance as a Biomarker of Treatment-Resistant Schizophrenia

Treatment-resistant schizophrenia (TRS) is an important and unresolved problem in biological and clinical psychiatry. Approximately 30% of cases of schizophrenia (Sch) are TRS, which may be due to the fact that some patients with TRS may suffer from pathogenetically “non-dopamine” Sch, in the development of which neuroinflammation is supposed to play an important role. The purpose of this narrative review is an attempt to summarize the data characterizing the patterns of production of pro-inflammatory and anti-inflammatory cytokines during the development of therapeutic resistance to APs and their pathogenetic and prognostic significance of cytokine imbalance as TRS biomarkers. This narrative review demonstrates that the problem of evaluating the contribution of pro-inflammatory and anti-inflammatory cytokines to maintaining or changing the cytokine balance can become a new key in unlocking the mystery of “non-dopamine” Sch and developing new therapeutic strategies for the treatment of TRS and psychosis in the setting of acute and chronic neuroinflammation. In addition, the inconsistency of the results of previous studies on the role of pro-inflammatory and anti-inflammatory cytokines indicates that the TRS biomarker, most likely, is not the serum level of one or more cytokines, but the cytokine balance. We have confirmed the hypothesis that cytokine imbalance is one of the most important TRS biomarkers. This hypothesis is partially supported by the variable response to immunomodulators in patients with TRS, which were prescribed without taking into account the cytokine balance of the relation between serum levels of the most important pro-inflammatory and anti-inflammatory cytokines for TRS

Pathophysiological Mechanisms of Antipsychotic-Induced Parkinsonism

Among neurological adverse reactions in patients with schizophrenia treated with antipsychotics (APs), drug-induced parkinsonism (DIP) is the most common motility disorder caused by drugs affecting dopamine receptors. One of the causes of DIP is the disruption of neurotransmitter interactions that regulate the signaling pathways of the dopaminergic, cholinergic, GABAergic, adenosinergic, endocannabinoid, and other neurotransmitter systems. Presently, the development mechanisms remain poorly understood despite the presence of the considered theories of DIP pathogenesis

Association of the HTR2A T102C SNP with Weight Gain and Changes in Biochemical Markers in Patients Receiving Antipsychotics

The purpose of our research was to study the association of the HTR2A T102C (rs6313) SNP with anthropometric and biochemical markers in patients treated with typical and atypical antipsychotics in monotherapy mode. Materials and methods: One hundred and seventeen white inpatients (95 men and 22 women) with F2 disorders (ICD-10, 1995) were enrolled in the study. All patients were divided into two groups by the antipsychotic class with which they were treated (Group 1 included 40 patients treated with typical antipsychotics; Group 2 included 77 patients treated with atypical antipsychotics) and two subgroups by weight change criteria during the study (Subgroup 1 included patients with weight change >6%; Subgroup 2 included patients with weight change <6%). The following examinations were performed: physical examination, anthropometric measurements (BMI. WC, TC), clinical examination, blood test (ALT, AST, FPG, VLDL-C, LDL-C, HDL-C, total cholesterol, triglycerides, total protein, albumin, creatinine, uric acid, carbamide), and genotyping for the HTR2A T102C (rs6313) SNP. Results: There were no statistically significant differences in the distribution of genotypes of the HTR2A T102C (rs6313) SNP between Group 1 and Group 2 (P>0.05). Kruskal-Wallis one-way analysis of variance between subgroups showed statistically significant differences between carbamide levels in the second visit in Group 2 (P=0.02). A Dunn post hoc test with Bonferroni adjustment showed statistically significant differences between TT and CT genotypes of the HTR2A T102C SNP: carbamide level was greater in TT carriers (P=0.02). The strength of associations and risks between alleles of the HTR2A T102C SNP and antipsychotic-induced weight change were as follows: ORC=0.49; CIC [0.25; 0.95]; RRC=0.58 CIC [0.35; 0.97]; ORT=2.03; CIT [1.05; 3.94]; RRT=1.7 CIT [1.02; 2.81]. Conclusion: Our results of the pilot pharmacogenetic studies show an association of the T allele carriage of the HTR2A T102C SNP with risk of antipsychotic-induced weight gain. The continuation of this study and an increase in the sample size will allow establishing valid pharmacogenetic markers for the risk of antipsychotic-induced weight gain

Using pharmacogenetics of direct oral anticoagulants to predict changes in their pharmacokinetics and the risk of adverse drug reactions

Dabigatran, rivaroxaban, apixaban, and edoxaban are direct oral anticoagulants (DOACs) that are increasingly used worldwide. Taking into account their widespread use for the prevention of thromboembolism in cardiology, neurology, orthopedics, and coronavirus disease 2019 (COVID 19) as well as their different pharmacokinetics and pharmacogenetics dependence, it is critical to explore new opportunities for DOACs administration and predict their dosage when used as monotherapy or in combination with other drugs. In this review, we describe the details of the relative pharmacogenetics on the pharmacokinetics of DOACs as well as new data concerning the clinical characteristics that predetermine the needed dosage and the risk of adverse drug reactions (ADRs). The usefulness of genetic information before and shortly after the initiation of DOACs is also discussed. The reasons for particular attention to these issues are not only new genetic knowledge and genotyping possibilities, but also the risk of serious ADRs (primarily, gastrointestinal bleeding). Taking into account the effect of the carriership of single nucleotide variants (SNVs) of genes encoding biotransformation enzymes and DOACs metabolism, the use of these measures is important to predict changes in pharmacokinetics and the risk of ADRs in patients with a high risk of thromboembolism who receive anticoagulant therapy