Злокачественная гипертермия (синдром Икара): новый взгляд на старую проблему

In the lecture shot history of research of etiology and pathogenesis of more dramatic complication of general anaesthesia – malignant hyperthermia - are presented. Importance of the interdisciplinary approach to working out of methods of preventive maintenance and treatment of it pharmacogenetics conditions in practice of the anaesthesiologist is underlined.В лекции освещена краткая история изучения вопросов этиологии и патогенеза одного из наиболее драматических осложнений общей анестезии – злокачественной гипертермии (синдрома Икара). Подчеркнута важность междисциплинарного подхода к разработке методов профилактики и лечения этого фармакогенетического состояния в практике невролога и анестезиолога

Генетика семейных форм бокового амиотрофического склероза

To analyze results of the studies covering modern scientific views on the genetics of familial amyotrophic lateral sclerosis (FALS).We searched for full-text publications containing the key words “amyotrophic lateral sclerosis”, “FALS”, and “genetics” in the literature for the past 10 years in both Russian and English in eLibrary, PubMed, Web of Science, and OMIM databases. In addition, the review includes earlier publications of historical interest.This review summarizes all existing information on four most widespread genes associated with FALS: SOD1, TARDBP, FUS, and C9ORF72. The review also describes the functions of these genes and possible pathogenetic mechanisms of motor neuron death in amyotrophic lateral sclerosis (ALS), such as mitochondrial dysfunction, oxidative stress, glutamate excitotoxicity, damage to axonal transport components, and pathological neurofilament aggregation.As modern methods of molecular genetic diagnostics evolve, our knowledge about multifactorial FALS genetics expands. This information should be taken into consideration in clinical practice of neurologists. Information about the genes associated with ALS and understanding of particular pathogenetic mechanisms of the disease play a key role in the development of effective therapeutic strategies.Анализируются результаты исследований, отражающих современное представление о генетике семейных форм бокового амиотрофического склероза (сБАС).Проведен поиск полнотекстовых публикаций на русском и английском языках за последнее десятилетие в базах данных eLibrary, PubMed, Web of Science, OMIM, используя ключевые слова «боковой амиотрофический склероз» (БАС), «сБАС», «генетика». Кроме того, в обзор включены более ранние публикации, имеющие исторический интерес.Представлены современные данные, накопленные по четырем самым распространенным генам возникновения сБАС: SOD1, TARDBP, FUS и C9ORF72. Рассмотрена функция этих генов, а также возможные патогенетические механизмы гибели мотонейронов при БАС: митохондриальная дисфункция, глутаматная эксайтотоксичноть, оксидативный стресс, поражение компонентов системы аксонального транспорта, патологическая агрегация нейрофиламентов.По мере развития современных методов молекулярно-генетической диагностики расширяются знания в понимании генетики семейных мультифакторных форм БАС, что важно учитывать в клинической практике врачей-неврологов. Выявление генов, ответственных за возникновение БАС, а также понимание конкретных патогенетических механизмов развития заболевания играют ключевую роль в разработке эффективных терапевтических стратегий

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

Herpesvirus-associated central and peripheral nervous system involvement: two clinical cases

Herpesviruses can directly affect the structure of the nervous system, resulting in encephalitis, and also induce immune-mediated disorders of the peripheral nervous system as sensory-predominant chronic inflammatory demyelinating polyneuropathy (CIDP). Patients with immunodeficiency may simultaneously develop two pathological processes, determining the severity of the condition. Parainfectious limbic encephalitis (PILE) associated with viruses from the family Herpes viridae is a form of chronic herpes encephalitis, which is characterized by dysfunction of the limbic system and by a long-term course with exacerbations. CIDP is a dysimmune disease leasing to peripheral nervous system involvement, which belongs to a class of myelinopathies. The paper describes two clinical cases of a concurrence of chronic PILE and CIDP in middle-aged men who have symptomatic status epilepticus and iatrogenic complications. It characterizes difficulties in diagnosis and the clinical features of chronic herpes infection involving the central and peripheral nervous systems. The given clinical cases suggest that not only neurologistsand epileptologists, but also resuscitation specialists and ngiosurgeons should be particularly alert to the pathology in question

Social adaptation and quality of life in reproductive-aged women with epilepsy

The quality-of-life indicators are integral characteristics of treatment and diagnostic measures in modern epileptology.Objective: to assess the social adaptation and quality of life in reproductive-aged women with epilepsy.Subjects and methods. A sociological survey using the Quality of Life Satisfaction questionnaire and the European Quality of Life-5 Dimensions (EQ-5D) was carried out in 352 women living in the Krasnoyarsk Territory.Results. At the time of the study, 21.3% of the patients were unemployed. Disability related to epilepsy was in 13.1% of women, mainly in those with cryptogenic (22.3%) and symptomatic (14.4%) epilepsy. Most of the women were unsatisfied with their job activity (55.1%), financial status (64.6%), and physical health (65.3%). Mainly the patients with symptomatic epilepsy reported dissatisfaction with their psychological status. The patients had employment problems (12.5%), inability to work in their specialty (12.5%) and to get the desired specialty (10.3%), and labor maladaptation (8.8%). There was a preponderance of women with higher education (40.3%) and 21.3% continued their studies. Warm family relations and help from relatives and friends (65.4%), hope for their recovery (50.7%), contacts with their friends (30.1%), and plans for future (34.6%) were important for the women to control the disease.Conclusions. The findings suggest that family, personal, maternity problems are more important causes of social maladaptation in epileptic women

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

Organization experience of diagnostic and medicosocial services for patients with Charcot—Marie—Tooth disease in Krasnoyarsk region

Hereditary neuropathy Charcot-Marie-Tooth (CMT) is the most common form of hereditary polyneuropathies. Goal of the study was the development of evidence-based diagnostic and treatment algorithms using patients with CMT (for example, in Krasnoyarsk Territory).Materials and methods: A total of 324 people. (probands and their relatives 1 and 2 lines of kinship). We analyzed 125 (38,5 %) clinical cases of CMT, 64/125 (51,2 %) clinical cases were include to statistical analysis (probands and their family trees, past the full range of clinical and laboratory findings according to the protocol this study). Age ranged from 6 to 81 years, median age — 30,5 years, including women 24 (37,5 %), median age — 33,5 years; males 40 (62,5 %), median age — 28,5 years. Methods of diagnosis: clinical, genetic, neurophysiological, molecular genetic, assessment of quality of life assessment of anxiety and depression.Results: The family history of CMT noted in 53/57 (93,0 %) cases, with a predominance of autosomal dominant type of inheritance —52 (91,2 %) cases. As a result of DNA testing duplication of peripheral myelin protein gene (RMR22) on chromosome 17, held 34 survey, this mutation was found in 17 (50,0 %) patients. Modified method of computer esthesiometry for CMT diagnosis using domestic diagnostic equipment “Vibrotester-MBN” BT-02-1 has a high sensitivity in the early stages of the disease and can be recommended for more widespread adoption of on par with other subjects of the Russian Federation

Фармакогенетика антиэпилептических препаратов

There are some generalized data on a problem pharmacogenetics researches antiepileptic drugs on the basis of the analysis of the accessible native and foreign literature in this review.В настоящем обзоре на основе анализа отечественной и зарубежной литературы обобщeны сведения о проблеме фармакогенетических исследований антиэпилептических препаратов

The late diagnosis of double cortex syndrome in a 36-year-old woman with resistant atonic seizures

Subcortical laminar heterotopia (double cortex syndrome) is an orphan disease with an incidence of 1 to 200,000 people in the population. The cause of the disease is mutation of the gene DCX (synonyms: DBCN, XLIS) in chromosome Xq22.3-q23. The type of inheritance is X-linked dominant. Correct diagnosis requires a high degree of skills of a neurologist/epileptologist and a radiologist. The paper describes a clinical case of the late diagnosis of double cortex syndrome in a 36-year-old woman with a long history of resistant atonic seizures and mental retardation

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