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

Клинико-генетическая гетерогенность хондродистрофической миотонии

Chondrodystrophic myotonia characterized by generalized myotonic myopathy, masklike face, skeletal dysplasia, contracture of joints,growth retardation and bone maturation delay. Two types have been defined by the age of manifestation of the symptoms: the severe neonatal form, sometimes called type 2 (Stuve–Wiedemann syndrome), and the classical form (Schwartz–Jampel syndrome) with late infantile or childhood manifestation. Therapy targets electrical stabilization of the muscle membrane. Successful therapies include anticonvulsants and antiarrhythmic drugs.Хондродистрофическая миотония характеризуется генерализованной миотонической миопатией, маскообразным лицом, скелетной дисплазией, контрактурами суставов, задержкой роста и созревания костной ткани. Идентифицировано два типа заболевания в зависимости от возраста дебюта: тяжелая неонатальная форма, которую иногда называют 2 типом (синдром Стува–Видеманна), и классическая форма (синдром Шварца–Джампела) с дебютом в младенческом или детском возрасте

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

THE ROLE OF INTERLEUKIN 1β GENE POLYMORPHISM IN DEVELOPMENT OF PREDOMINANTY SENSORY CHRONIC INFLAMMATORY DEMYELINATING POLYNEUROPATHY

The aim of the present study was a search for associations between the polymorphic allelic variants 3954 C>T (rs1143644) and -511C>T (rs16944) of IL1B gene in the patients with sensory predominant chronic inflammatory demyelinating polyneuropathies (SP-CIDP) from Krasnoyarsk Region and the Sakha (Yakutia) Republic. A total of 95 people were examined, having been divided into 2 groups according to their residence. The first group consisted of 42 patients living in the Sakha (Yakutia) Republic. The second group included 53 patients living in the Krasnoyarsk Region. It was revealed that the carriers of homozygous CC genotype in the 3954C>T locus were more often detected in patients from the Sakha (Yakutia) Republic, and the carriage of TT genotype is found exclusively in the patients from Krasnoyarsk Region. When comparing the different genotype frequencies in the -511CT locus, we did not reveal any statistically significant differences between the two groups of patients. Presence of the CC genotype of the 3954C>T locus was associated with a significantly increased risk of disease in the patients from Sakha (Yakutia) Republic, while carrying CT and TT genotypes at the locus 3954C>T and the TT genotype at the locus -511C>T, is associated with increased risk disorder among patients of the Krasnoyarsk Region. The frequency of carriage of various genotypes in the 3954C>T and -511C>T loci of the IL1B gene was prevalent among the patients from the Sakha (Yakutia) Republic, the association of genotypes of CC/CT prevailed in patients from the Krasnoyarsk Region (p = 0.005), as well as prevalence of CC/CC and CC/CT (p = 0.023). However, there was no statistically significant difference in occurrence of individual genotypes between the two study groups. When analyzing the carrier frequency of high-producing alleles of 3954C and -511C in patients with SP-CIDP, it was shown that they were significantly more common among patients from the Sakha (Yakutia) Republic and patients from the Krasnoyarsk Region than the low-producing 3954T and -511T alleles. Moreover, the 3954C allele was more often found in the Yakut group (p = 0.001), and in the -511C allele for the Krasnoyarsk group of patients (p = 0.05). The presence of 3954C and -511C alleles increases the risk of SP-CIDP development in patients from the Sakha (Yakutia) Republic, as well as carriage of 3954T allele in patients from the Krasnoyarsk Region

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

Физиотерапия болезни Шарко–Мари–Тута

In the article there is a review the latest achievements in the field of physiotherapy Charcot–Marie–Tooth disease (CMT). Describes some of the techniques non-pharmacological treatment, the goal of physiotherapy application depending on the pathogenesis, clinical manifestations of the disease, electromiographic tests. Here there are recommendations for sanato¬rium treatment. On the basis of personal observations in the article presents the author's patterns of treatment for CMT patients.В статье отражены последние достижения в области физиотерапии болезни Шарко–Мари–Тута (ШМТ). Описаны методики физиотерапевтического лечения, цели их применения в зависимости от патогенеза, клинических проявлений заболевания, электромиографического исследования. Даны рекомендации по санаторно-курортному лечению. На основании личных наблюдений в статье представлены авторские схемы физиотерапевтического лечения пациентов с болезнью ШМТ

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

Problems of diagnostic management of congenital myotonia: to execute or to pardon

Congenital myotonia is a monogenetic disease, hereditary neuromuscular chanalopathy that affects skeletal muscles. Two types of myotonia congenita exist; autosomal dominant myotonia congenita also called Thomsen disease (OMIM160800), and recessive generalized myotonia (RGM) or Becker myotonia (OMIM 255700). Because several CLCN1 mutations can cause either Becker myotonia or Thomsen myotonia, doctors usually rely on characteristic signs and symptoms to distinguish the two forms of myotonia congenita. However, diagnostic errors are very common at the level of primary health care. The authors present a clinical case of late diagnosis of congenital myotonia (variant pseudo-Becker) in 42 years old man. Execution or to pardon the doctor who prescribed molecular diagnostic testing, which is not included in the approved standards?Врожденная миотония - моногенное заболевание, наследственная каналопатия, при которой поражаются скелетные мышцы. Выделяют два типа врожденной миотонии: аутосомно-доминантную врожденную миотонию, также называемую миотонией Томсена (0М1М 160800), и аутосомно-рецессивную генерализованную миотонию (РГМ) или миотонию Беккера (0MIM 255700). Поскольку несколько мутаций гена хлорного канала CLCN1 могут вызвать либо миотонию Томсена, либо миотонию Беккера, врачи обычно полагаются на характерные признаки и симптомы, чтобы различать эти две формы врожденной миотонии. Однако диагностические ошибки очень часты на уровне первичного звена здравоохранения. Одной из ведущих проблем диагностического менеджмента врожденной миотонии является низкая доступность молекулярно-генетического исследования для населения нашей страны, потому что этот вид диагностики не входит в программу государственных гарантий до настоящего времени. Авторами представлен клинический случай поздней диагностики врожденной миотонии (вариант псевдо-Беккера) у 42-летнего мужчины. Казнить или помиловать врача, который назначил молекулярно-диагностическое обследование, не входящее в утвержденные стандарты

Роль стрейч-терапии в комплексной физической абилитации больных с наследственной невропатией Шарко–Мари–Тута

Charcot–Marie–Tooth hereditary neuropathy (Charcot–Marie–Tooth disease, CMT) is the most common form of hereditary neuropathies, accompanied by sensory disorders, progressive muscle weakness with the formation of disabling contractures of the limbs. Currently, the main treatment program is effective CMT habilitation, which can prevent the development of limb deformities and thereby improve the life quality of the patient. Stretch therapy is one of the most effective methods of prevention and treatment of contractures in patients with CMT. This article provides a brief review of the literature regarding the use of stretching as physical therapy program of CMT habilitation.Наследственная невропатия Шарко–Мари–Тута (болезнь Шарко–Мари–Тута БШМТ) – наиболее распространенная форма наследственных невропатий, сопровождающаяся чувствительными нарушениями, прогрессирующей мышечной слабостью с фор- мированием инвалидизирующих контрактур конечностей. В настоящее время основной метод лечения БШМТ – программа эф- фективной абилитации, которая может предотвратить развитие деформаций конечностей и тем самым улучшить качество жизни пациента. Одним из наиболее эффективных методов профилактики и лечения контрактур при БШМТ является стрейч-терапия. В данной статье представлен краткий обзор литературы в части применения стрейч-терапии в программе физической абилитации БШМ

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