[Comorbid anxiety disorders in patients with neurological pathology: current state of the problem and the role of etifoxine in treatment strategy].

The article presents theses of the resolution of the Interdisciplinary Council of Experts in Psychiatry and Neurology (Moscow, 2024) on the issue of comorbid anxiety disorders (AD) in patients with neurological pathologies. The authors highlight the high prevalence of comorbid ADs and their significant negative impact on the course of underlying diseases, such as epilepsy, pain syndromes and post-stroke conditions. Modern approaches to the diagnosis and treatment of ADs in this group of patients are discussed.

[A longitudinal study of pediatric-onset multiple sclerosis in the Voronezh region].

Objective: To study the clinical course, the rate of progression and the results of the disease modifying treatment (DMT) in pediatric-onset multiple sclerosis (POMS) patients in the Voronezh region.

Material And Methods: The clinical characteristics of the course of relapsing-remitting multiple sclerosis (MS) were analyzed among 51 POMS patients and 51 patients with the adult-onset MS (AOMS). The clinical course was assessed based on the Expanded Disability Status Scale (EDSS) score, the average annual frequency of exacerbations and the rate of disease progression before and during DMT.

[A case of a pathological variant of the PRRT2 gene in twins with paroxysmal kinesiogenic dyskinesia].

Paroxysmal dyskinesia is a clinically and etiologically polymorphic group of diseases, the main clinical manifestation of which is transient attacks of extrapyramidal movements, with different conditions of occurrence. Paroxysmal kinesigenic dyskinesia belongs to the group of primary dyskinesias, which also includes paroxysmal non-kinesigenic dyskinesia and exercise-induced paroxysmal dyskinesia. The most common cause of paroxysmal kinesiogenic dyskinesia is mutations in the PRRT2 gene; in cases of non-kinesiogenic dyskinesia, a mutation in the MR1 gene is detected.

[P.S. Babkin (To the 100th anniversary)].

There was the 100th anniversary of the birth of Peter Semenovich Babkin, a front-line soldier, famous neurologist, clinician, scientist and educator, Professor, Doctor of Medical Sciences, the founder of the theory of intrapartum fetal hibernation and maternal autoanalgesia.

[Improvement of the efficacy and safety of treatment of epilepsy using new forms of controlled release antiepileptic drugs].

The paper summarizes the results of the studies on the efficacy and safety of a new form of controlled release levetiracetam XR (Lev XR) compared to standard tablet immediate release form in treatment of resistant partial seizures. The authors present the data on the bioequivalence and absorption of LevXR related to the meal and therapeutic doses in the range between 1000 to 3000 mg/day. It has been concluded that LevXR has high efficacy and safety due to its stable plasma concentration during the day.

[Comorbidity of epilepsy and chronic disorders in children and adolescents with the assessment of the effectiveness of therapy].

Aim: To determine the comorbidity of epilepsy and chronic tic disorders (HTR) in children and adolescents based on the results of video-EEG monitoring and treatment efficacy.

Material And Methods: One hundred and sixteen patients diagnosed with HTR, 83 boys and 33 girls, aged from 3 to 15 years, were studied. Clinical psychoneurological examination, psychological testing and video-EEG monitoring were performed at the first stage of the study.

Loss of Heterozygosity in BRCA1 and BRCA2 Genes in Patients with Ovarian Cancer and Probability of Its Use for Clinical Classification of Variations.

Changes (or variants) in BRCA1 and BRCA2 gene sequences can have different lengths and clinical significance: from single nucleotide variants (SNV) and short insertions/deletions (<50 bp) to extended deletions and duplications (so-called copy number variations, or CNV). According to their clinical significance, all variants can be divided into pathogenic, likely pathogenic, variants of uncertain significance, likely benign, and benign. Moreover, variants can be germinal (i.

Massive Parallel Sequencing for Diagnostic Genetic Testing of BRCA Genes--a Single Center Experience.

The aim of this study was to implement massive parallel sequencing (MPS) technology in clinical genetics testing. We developed and tested an amplicon-based method for resequencing the BRCA1 and BRCA2 genes on an Illumina MiSeq to identify disease-causing mutations in patients with hereditary breast or ovarian cancer (HBOC). The coding regions of BRCA1 and BRCA2 were resequenced in 96 HBOC patient DNA samples obtained from different sample types: peripheral blood leukocytes, whole blood drops dried on paper, and buccal wash epithelia.

[Exalief as a newer antiepileptic drug for adjunctive therapy of refractory partial-onset seizures].

Results of a multicenter international study on the efficacy of exalief (eslicarbazepine acetate (ESL)), a newer blocker of voltage-gated sodium channels and T-type voltage gated calcium channels, for adjunctive therapy of refractory partial-onset seizures are presented. A clinical program included phase II (BIA-2093-201) followed by three phase Ill studies (BIA-2093-301, -302 and-303), each of which was accompanied by an additional open one-year study (301 E, 302E, 303E). In three parallel phase Ill studies patients were randomized to receive ESL in single doses 400, 800, 1200 mg or placebo together with 1 - 3 antiepileptic drugs used in stable doses, with the exception of felbamate and oxcarbazepine.

Polymorphisms in DNA repair genes and breast cancer risk in Russian population: a case-control study.

Genetic variation in DNA repair genes can alter an individual's capacity to repair damaged DNA and influence the risk of cancer. We tested seven polymorphisms in DNA repair genes XRCC1, ERCC2, XRCC3, XRCC2, EXOI and TP53 for a possible association with breast cancer risk in a sample of 672 case and 672 control Russian women. An association was observed for allele A of the polymorphism XRCC1 (R399Q) rs25487 (co-dominant model AA vs.

[The treatment of gallbladder cholesterosis in children].

The article contains the results of studies indicating the benefits of conservative therapy in children with gallbladder cholesterosis (GBC). The high efficiency of ursodeoxycholic acid in the treatment of GBC in childhood is shown in the study. Our research in the field of GBC in children allows the authors to propose management algorithm of such patients.

Association GSTT1, GSTM1 and GSTP1 (Ile105Val) genetic polymorphisms in mothers with risk of congenital malformations in their children in Western Siberia: a case-control study.

Objective: Polymorphisms of glutathione S-transferase (GST) genes in mothers may be involved in teratogenesis in their offspring. This study aims to investigate the association of GST genes (T1, M1 and P1) with the risk of having children with congenital malformations (CMs) in residents of the West Siberian region of Russia.

Method: We studied 235 women with offspring's with CMs, and 273 women with one or more healthy children.

[Focal characteristics in the clinical examination and EEG in children with idiopathic generalized epilepsy].

The aim of the study was to determine the prevalence of focal characteristics in the clinical symptoms of seizures and in EEG in children with different clinical variants of generalized idiopathic epilepsy. We studied 71 patients, 29 boys and 42 girls, aged from 2 to 18 years. Video-EEG-monitoring and MRI were performed in all cases.

[Focal features of idiopathic generalized epilepsy].

Idiopathic generalized epilepsies (IGE), in some cases, have focal features in the kinematic of seizures and in the EEG. The aim of the paper was to study these clinical phenomena using video-EEG monitoring. We studied 180 patients (80 men and 100 women) with different forms of IGE with epileptic seizures recorded with this method.

[Experience of the conservative treatment of the gallbladder cholesterosis in children].

Gallbladder cholesterosis (GBC) was described more than 150 years ago, but so far the disease remains unknown. With respect to children's age appear solitary works. The introduction of modern pediatric practice of the intrascopic research methods enabled us to objectively identify the pathological changes in the gallbladder wall.

[Effect of point substitutions in the MnSOD, GPX1, and GSTP1 genes on the risk of familial and sporadic breast cancers in residents of the Altaĭ region of the Russian Federation].

The frequencies of the polymorphic gene variants MnSOD Ala9Val, GPX1 Pro198Leu, and GSTP1 Ile105 Val were estimated in female residents of Altai krai with breast cancer. The frequency distributions of the genotypes for all genes studied in both patients and control subjects fit the Hardy-Weinberg equilibrium. The estimated frequencies of the genotypes for the studied genes in the control group did not differ from those earlier reported for Caucasoid women living in Europe.

[Efficacy and safety of the monotherapy with trileptal (oxcarbazepine) in children and adolescents].

A prospective non-randomized non-controlled multicenter trial has been conducted. The trial included 254 children, aged from 11 months to 18 years (mean age 9.3 +/- 4.

[Epilepsies with electric status epilepticus in sleep: peculiarities of clinical course and rational approaches to treatment].

We studied 52 patients with electric status epilepticus in slow sleep (EESSS) during 3-5 years. Age-dependent peculiarities of clinical course of the disease, risk factors for EESSS and rational approaches to antiepileptic treatment for these cases were singled out. Symptomatic and idiopathic EESSS variants were revealed.

[Idiopathic focal epilepsies of infancy and childhood].

We studied 1036 children with epileptic seizures, aged from 1 to 18 years, during 2004-2008. One hundred and six patients were diagnosed with idiopathic focal epilepsy (IFE). The following forms of IFE were singled out: benign seizures of infancy (familial and non-familial) - Watanabe--Vigevano syndrome - 5,7%, occipital epilepsy of childhood with early manifestation (Panayiotopoulos syndrome) -26,4%, occipital epilepsy of childhood with late manifestation (Gastaut syndrome) - 12,3%, benign epilepsy of childhood with central-temporal spikes (rolandic epilepsy) - 51%, benign focal epilepsy with affective symptoms - 4,7%.

[Transitory cognitive dysfunction in rolandic epilepsy].

Forty-four patients with rolandic epilepsy (32 boys, 12 girls), aged from 5 to 14 years, were examined in the prospective study during 5 years. Before the antiepileptic treatment, most of patients had transitory cognitive disturbances. There were the impairment of verbal functions, especially verbal intellect, while non-verbal intellect remained intact; dyspraxia, impairment of auditory-speech memory, disturbances of arbitrary regulation and optical-motor coordination.

[Diagnostic algorithm of biliary tract diseases in children].

Biliary tract (BT) diseases occupy one of the first places among the gastrointestinal diseases in children. The term "biliary tract" includes the gallbladder and intra-and extrahepatic bile ducts. The structure of biliary tract diseases had a significant increase in metabolic and inflammatory diseases, functional disorders.

[Epilepsy with prolonged epileptiform activity during sleep in children and adolescents].

Benign epileptic discharges of childhood (BEDC) are typical age-related EEG patterns associated with idiopathic benign focal epilepsy (BFE). The study of BFE revealed the symptomatic phenocopies in patients with structural brain lesions in infantile cerebral paralysis and malformations. The authors discuss the question of "benignity" of BEDC that may lead to various disturbances of cognitive functions and behavior, i.

[Clinical-psychological analysis of the development of movement, perceptual, intellectual and speech functions in children with cerebral palsy].

105 children with cerebral paralysis at the age under 3 years were examined. CNS damages in children of early age with disneuroontogenesis may be divided into 4 degrees of severity. This enables to estimate objectively both the patients' state and the results of their therapy in the groups with the same degree of severity of CNS damage.

[The motor adaptation syndrome in the human fetus and its dynamics in newborns].

The authors describe a new syndrome characteristic of neonates born in the breech presentation. The syndrome, most evident upon the delivery, was observed in 30 infants, followed up in 20 of them. The neonates have specific lower limb position (maximally flexed thighs, extended, legs, slightly bent in the soles feet), spontaneous movements of the legs and feet are restrained, muscular tonicity reduced in the leg flexors and sole muscles is high in femoral flexors, the Achilles reflex is inhibited, motor response to plantar stimulation is weak or absent.