Neuromuscular Diseases (E-Journal) / Нервно-мышечные болезни
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Клинико-иммунологические особенности миастении и подходы к ее терапии у лиц пожилого возраста (обзор литературы)
Get PDFA literature review on the peculiarities of the diagnosis, course and treatment of myasthenia gravis in the elderly has been done. Despite the fact that myasthenia gravis is a disease of the young and middle-aged, in recent years, several authors observe an increased incidence among the elderly. A proper diagnosis in this age group tend to cause difficulties, and concomitant diseases complicate the choice of therapeutic approach which includes: acetylcholinesterase inhibitors, steroids, immunosuppressants, intravenous immunoglobulins and plasmapheresis. Thymectomy in older age groups, except for the presence of thymoma, due to side effects and the lack of a strong evidence base, is not widely held. The question of the effectiveness and optimal therapeutic approach of myasthenia gravis in elderly patients is still not fully resolved.Проведен обзор отечественной и зарубежной литературы, посвященной особенностям диагностики, течения и лечения миастении у лиц пожилого возраста. Традиционно считается, что миастения чаще встречается у пациентов молодого и среднего возраста,однако в последние годы ряд авторов отмечают рост заболеваемости среди пожилых людей. Диагностика миастении у пожилых, как правило, вызывает трудности, а сопутствующие заболевания осложняют подбор лекарственной терапии, которая включает ингибиторы ацетилхолинэстеразы, глюкокортикостероиды, иммуносупрессоры, внутривенные иммуноглобулины и плазмаферез. Тимэктомия в старших возрастных группах, за исключением случаев наличия тимомы, в силу побочных эффектов и отсутствия убедительной доказательной базы широко не проводится. Вопрос об эффективности различных методов терапии миастении у пациентов пожилого и старческого возраста и оптимальных подходах к лечению этой категории пациентов остается до конца не решенным
Распространенность болезни Помпе у пациентов с идиопатической гиперкреатинкиназемией и слабостью поясно-конечностных мышц (анализ 3076 случаев)*
Get PDFВоспалительная опухоль Кюттнера как причина пареза подъязычного нерва: обзор литературы и описание клинического случая
No full textChronic sclerosing sialadenitis, also known as Küttner’s tumor, is a benign tumour-like chronic inflammatory lesion of the salivary glands predominantly involving the submandibular gland. It was first described in 1896 by H. Küttner, a German physician. Histopathological examination reveales dilated ducts with a dense lymphoplasmacytic infiltration, periductal fibrosis and acinaratrophy. Clinical characteristics include painless swelling of the submandibular gland. Mostly the submandibular gland is affected unilaterally. For the moment Küttner's tumor is thought to be a lesion of immunoglobulin G4-related disease (IgG4-related disease). This is an inflammatory condition accompaniedby dense lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells, fibrosis in various organs and elevated serum IgG4 levels. Küttner’s tumour creates an interesting diagnostic dilemma in clinical practice because it resembles closely the clinical characteristicsof malignancy. Herein, we report the case of a 69-year-old female with the hypoglossal nerve paresis caused by IgG4-associated chronic sclerosing sialadenitis. At first stroke was suspected
Открытое сравнительное рандомизированное исследование эффективности и безопасности применения растительных препаратов Персен® и Персен® Ночь у пациентов с кратковременной инсомнией
Get PDFHerbal sedatives serve an alternative to antipsychotics and hypnotics aimed to alleviate symptoms of anxious disorders and insomnia. Valeriana officinalis L., Mentha piperita L. and Melissa officinalis are most widely used in neurology as sedatives of herbal origin. We present the results of a randomized open-label trial on efficiency and safety of Persen® and Persen® Night containing extracts of the above mentioned plants in patients with short-term insomnia. The study consisted of 60 subjects of 18–65 y.o. (mean 42.4 ± 6.9 y.o.) with short-term insomnia due to adjustment disorder or mixed anxiety-depressive disorders: 30 of them got Persen® 2 tablets a day and 30 – Persen® Night, 1 capsule 30–60 min before sleep during 4 weeks. The majority (76.5 %) of patients referred the onset of insomnia with psychosocial traumatic stressor. Persen® Night’s main action was found on superficial sleep, number of night awakenings, sleep onset rate. At the end of the therapy with this substance 39.7 % of patients fell asleep in 10–15 min, and 92.2 % – in 30 min, accordingly, while for Persen® at 17.4 and 80.3 % accordingly (р < 0.05). In the meantime Persen® decreased the bad sleep perception at awakening and day somnolence, mostly attributed to the mood improvement and decrease of anxiety. Levels of efficacy and safety for both substances were significant, allowing to regard them as potential phytotherapeutic agent in the treatment of insomnia and mixed anxiety-depressive disorders
Миопатия Миоши: диагностика семейного случая дисферлинопатии
Get PDFMiyoshi myopathy (MM) is a rare distal form of limb-girdle muscular dystrophies characterized by weakness primarily affecting the calves in adolescence or young adulthood, with slow progression, the ascending pattern of involvement of muscle groups in an atrophic process, and with obvious clinical polymorphism at onset (3 allelic variants are described). In MM, hypercreatine phosphatemia is noted to be 20– 50 times the normal blood concentrations. MM is referred to the dysferlinopathies with different mutations in the DYSF gene. In that manuscript we describe a 20-year familial case of 2 brothers with MM, including changes in their clinical manifestations, biochemical, CT and EMG parameters. The diagnosis was verified by whole exome sequencing of the DYSF gene to identify a homozygous missense mutations (c. 5302C>T) leading to replacement in the polypeptide chain of DYSF p.Arg1768Trp. The differential diagnosis of MM with clinically similar hereditary neuromuscular diseases is discussed.
Спектр сонографических изменений при наследственной моторно-сенсорной нейропатии с аутосомно-доминантным и Х-сцепленным наследованием
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Новый аллельный вариант наследственной аутосомно-рецессивной моторно-сенсорной нейропатии 2S типа, обусловленный мутациями в гене IGHMBP2
Get PDFHereditary motor and sensory neuropathy (HMSN, Charcot–Marie–Tooth disease) is a group of genetically heterogeneous disorders with more than 80 genes linked to different phenotypes, including IGHMBP2 gene responsible for HMSN type 2S (OMIM 616155). Until recently, mutations in IGHMBP2 were exclusively associated with neonatal distal spinal muscular atrophy with respiratory distress (SMARD1, OMIM 604320). A case report presents a boy with infant onset decreased distal muscle tone and weakness, distal wasting and deformation in legs and hands, areflexia and decreased sensation without respiratory involvement; at age seven he had severe fixed kypho-scoliosis. EMG revealed signs distal axonal neuropathy. The exsome sequencing confirmed the allelic variant of two compound heterozygous mutations in gene IGHMBP2: known missens mutation с.1616С>Т (р.Ser539Leu) in exone 11 and a novel deletion с.2601_2602delGA in exone 13. The diagnosis of infant HMSN type 2S was confirmed. The phenotype of HMSN type 2S and its diagnostics differences between SMARD1 are discussed
Хроническая воспалительная демиелинизирующая полинейропатия у взрослых: принципы диагностики и терапия первой линии
Get PDFChronic inflammatory demyelinating polyneuropathy (CIDP) is among the key reasons of chronic polyneuropathies in adults. Diagnostic algorithm of CIDP in adults is presented. Diagnosis of CIDP is based on clinical and electrodiagnostic criteria of European Federation of Neurological Societies/Peripheral Nervous System in 2010. Principles of CIDP treatment are discussed, including modern trends of standard and 10 % IVIG solutions. Хроническая воспалительная демиелинизирующая полинейропатия (ХДВП) входит в структуру причин хронических полинейропатий у взрослых. Представлен алгоритм диагностики ХВДП у взрослых, который основывается на клинических и электрофизиологических критериях, предложенных Европейской федерацией неврологических обществ/периферической нервной системы (European Federation of Neurological Societies/Peripheral Nervous System) в 2010 г. Рассмотрены принципы лечения больных ХВДП и место внутривенной иммунотерапии в современных терапевтических подходах, включая использование 10 % растворов.