Search Results - "нервно-мышечные заболевания"

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Academic Journal

Stages of research and development of therapeutic approaches for Duchenne myodystrophy. Part I: the period before etiotropic approaches introduction ; Исторические этапы поиска и разработки терапевтических подходов при миодистрофии Дюшенна. Часть I: период до внедрения этиотропных подходов

Authors: K. S. Kochergin-Nikitskiy, S. A. Smirnikhina, A. V. Lavrov, К. С. Кочергин-Никитский, С. А. Смирнихина, А. В. Лавров

Contributors: The work was supported by the Russian Science Foundation grant No. 23-15-00482, https://rscf.ru/project/23-15-00482/., Работа выполнена за счет гранта Российского научного фонда № 23-15-00482, https://rscf.ru/project/23-15-00482/

Source: Neuromuscular Diseases; Том 14, № 1 (2024); 51-62 ; Нервно-мышечные болезни; Том 14, № 1 (2024); 51-62 ; 2413-0443 ; 2222-8721

Subject Terms: нервно-мышечные заболевания, Becker muscular dystrophy, DMD gene, dystrophin, neuromuscular disorders, мышечная дистрофия Беккера, ген DMD, дистрофин

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Treatment of Duchenne’s muscular dystrophy with penicillamine: Results of a double-blind trial. Arch Neurol 1979;36(5):266–8. DOI:10.1001/archneur.1979.00500410044005; Bradley W.G., Enomoto A., Gardner-Medwin D. A double-blind controlled trial of penicillamine therapy in Duchenne muscular dystrophy – interim comments. Proc R Soc Med 1977; 70(Suppl 3):94.; Fenichel G.M., Brooke M.H., Griggs R.C. et al. Clinical investigation in Duchenne muscular dystrophy: Penicillamine and vitamin E. Muscle Nerve 1988;11(11):1164–8. DOI:10.1002/mus.880111110; Romanelli R.G., Caligiuri A., Carloni V. et al. Effect of pentoxifylline on the degradation of procollagen type I produced by human hepatic stellate cells in response to transforming growth factor-beta 1. Br J Pharmacol 1997;122(6):1047–54. DOI:10.1038/sj.bjp.0701484; Escolar D.M., Zimmerman A., Bertorini T. et al. Pentoxifylline as a rescue treatment for DMD. Neurology 2012;78(12):904–13. DOI:10.1212/WNL.0b013e31824c46be; Lin P.-S., Chang H.-H., Yeh C.-Y. et al. Transforming growth factor beta 1 increases collagen content, and stimulates procollagen I and tissue inhibitor of metalloproteinase-1 production of dental pulp cells: Role of MEK/ERK and activin receptor-like kinase-5/ Smad signaling. J Formos Med Assoc 2017;116(5):351–8. DOI:10.1016/j.jfma.2016.07.014; Zimmerman A., Clemens P.R., Tesi-Rocha C. et al. Liquid formulation of pentoxifylline is a poorly tolerated treatment for Duchenne dystrophy. Muscle Nerve 2011;44(2):170–3. DOI:10.1002/mus.22127; Morales M.G., Gutierrez J., Cabello-Verrugio C. et al. Reducing CTGF/CCN2 slows down mdx muscle dystrophy and improves cell therapy. Hum Mol Genet 2013;22(24):4938–51. DOI:10.1093/hmg/ddt352; Connolly A.M., Zaidman C.M., Brandsema J.F. et al. Pamrevlumab, a fully human monoclonal antibody targeting connective tissue growth factor, for non-ambulatory patients with Duchenne muscular dystrophy. J Neuromuscul Dis 2023;10(4):685–99. DOI:10.3233/JND-230019; García A.M., Goldemberg A.L., Fernández H. et al. Effect of chronic administration of verapamil in Duchenne muscular dystrophy. Gen Pharmacol 1990;21(6):939–42. DOI:10.1016/0306-3623(90)90459-y; Emery A.E., Skinner R., Howden L.C., Matthews M.B. et al. Verapamil in Duchenne muscular dystrophy. Lancet Lond Engl 1982;1(8271):559. DOI:10.1016/s0140-6736(82)92063-3; Phillips M.F., Quinlivan R. Calcium antagonists for Duchenne muscular dystrophy. Cochrane Database Syst Rev 2008;4:CD004571. DOI:10.1002/14651858.CD004571.pub2; Dick D.J., Gardner-Medwin D., Gates P.G. et al. A trial of flunarizine in the treatment of Duchenne muscular dystrophy. Muscle Nerve 1986;9(4):349–54. DOI:10.1002/mus.880090412; Moxley R.T.3rd, Brooke M.H., Fenichel G.M. et al. Clinical investigation in Duchenne dystrophy. VI. Double-blind controlled trial of nifedipine. Muscle Nerve 1987;10(1):22–33. DOI:10.1002/mus.880100106; Pernice W., Beckmann R., Ketelsen U.P. et al. A double-blind placebo controlled trial of diltiazem in Duchenne dystrophy. Klin Wochenschr 1988;66(13):565–70. DOI:10.1007/BF01720830; Bertorini T.E., Palmieri G.M., Griffin J.W. et al. Effect of chronic treatment with the calcium antagonist diltiazem in Duchenne muscular dystrophy. Neurology 1988;38(4):609–13. DOI:10.1212/wnl.38.4.609; Patten B.M., Zeller R.S. Clinical trials of vasoactive and antiserotonin drugs in Duchenne muscular dystrophy. Ann Clin Res 1983;15(4):164–6.; Victor R.G., Sweeney H.L., Finkel R. et al. A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy. Neurology 2017;89(17):1811–20. DOI:10.1212/WNL.0000000000004570; https://nmb.abvpress.ru/jour/article/view/590

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https://doi.org/10.17650/2222-8721-2024-14-1-51-62

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2

Academic Journal

Діагностична роль магнітно-резонансної томографії м’язів при нервово-м’язових захворюваннях (науковий огляд та особисте спостереження)

Authors: H.V. Palahuta, V.I. Smolanka, M.M. Oros, I.Yu. Dutka

Source: INTERNATIONAL NEUROLOGICAL JOURNAL; № 1.103 (2019); 26-31
МЕЖДУНАРОДНЫЙ НЕВРОЛОГИЧЕСКИЙ ЖУРНАЛ; № 1.103 (2019); 26-31
МІЖНАРОДНИЙ НЕВРОЛОГІЧНИЙ ЖУРНАЛ; № 1.103 (2019); 26-31

Subject Terms: МРТ мышц, нервно-мышечные заболевания, жировая дегенерация мышц, специфические паттерны поражения мышц, Т1- и Т2-импульсная последовательность, STIR, 03 medical and health sciences, 0302 clinical medicine, МРТ м'язів, нервово-м'язові захворювання, жирова дегенерація м'язів, специфічні патерни ураження м'язів, Т1- і Т2-імпульсна послідовність, magnetic resonance imaging of muscles, neuromuscular diseases, fatty muscle degeneration, specific, 3. Good health

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3

Academic Journal

Family Case of Spinal Muscular Atrophy (SMA): Experience of Use of the SMN2 Gene Splicing Modifier (Risdiplam)

Source: Неврология и нейрохирургия. Восточная Европа. :245-256

Subject Terms: 0301 basic medicine, electromyography, clinical case, спинальная мышечная атрофия, neuromuscular diseases, клинический случай, электромиография, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, молекулярно-генетическая диагностика, нервно-мышечные заболевания, molecular and genetic diagnostics, spinal muscular atrophy

4

Academic Journal

Modern View of SMA: Present and Future (Literature Review)

Source: Неврология и нейрохирургия. Восточная Европа. :573-585

Subject Terms: 03 medical and health sciences, креатининфосфокиназа, electromyography, 0302 clinical medicine, молекулярно-генетическая диагностика, creatinine phosphokinase, нервно-мышечные заболевания, спинальная мышечная атрофия, neuromuscular diseases, molecular and genetic diagnostics, электромиография, 3. Good health, spinal muscular atrophy

5

Academic Journal

Is It Necessary to Rehabilitate Patients with Neuromuscular Diseases?

Source: Неврология и нейрохирургия. Восточная Европа. :234-243

Subject Terms: 03 medical and health sciences, миастения гравис, amyotrophic lateral sclerosis, myasthenia gravis, 0302 clinical medicine, нервно-мышечные заболевания, реабилитация, боковой амиотрофический склероз, physical therapy, neuromuscular diseases, лечебная физкультура, 3. Good health, rehabilitation

6

Academic Journal

Disorders of Swallowing in the Clinic of Nervous Diseases

Source: Неврология и нейрохирургия. Восточная Европа. :110-119

Subject Terms: бульбарные нарушения, БДН, dysphagia, миастения, дисфагия, ОНМК, speech disorders, BDN, neuromuscular diseases, псевдобульбарные нарушения, pseudobulbar disorders, 3. Good health, myasthenia, bulbar disorders, 03 medical and health sciences, ONMK, 0302 clinical medicine, нарушения речи, нервно-мышечные заболевания

7

Academic Journal

Esophageal achalasia and a selection of cardiodilatation methods (a bibliographical review) ; Ахалазия кардии и выбор методов кардиодилатации (обзор литературы) ; Ахалазія кардії та вибір методів кардіодилатації (огляд літератури)

Authors: Урсол, Г.

Source: Bukovinian Medical Herald; Vol. 14 No. 1 (53) (2010); 152-158 ; Буковинский медицинский вестник; Том 14 № 1 (53) (2010); 152-158 ; Буковинський медичний вісник; Том 14 № 1 (53) (2010); 152-158 ; 2413-0737 ; 1684-7903

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8

Academic Journal

Esophageal achalasia and a selection of cardiodilatation methods (a bibliographical review)

Source: Bukovinian Medical Herald; Vol. 14 No. 1 (53) (2010); 152-158
Буковинский медицинский вестник; Том 14 № 1 (53) (2010); 152-158
Буковинський медичний вісник; Том 14 № 1 (53) (2010); 152-158

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9

Academic Journal

Genome sequencing in patients with likely hereditary diseases of the nervous system ; Секвенирование генома у пациентов с вероятно наследственными заболеваниями нервной системы

Authors: I. V. Kanivets, K. V. Gorgisheli, V. Yu. Udalova, A. A. Sharkov, D. V. Pyankov, S. A. Korostelev, И. В. Канивец, К. В. Горгишели, В. Ю. Удалова, А. А. Шарков, Д. В. Пьянков, С. А. Коростелев

Source: Medical Genetics; Том 19, № 4 (2020); 55-56 ; Медицинская генетика; Том 19, № 4 (2020); 55-56 ; 2073-7998

Subject Terms: neuromuscular diseases, эпилепсия, нервно-мышечные заболевания, genome sequencing, neurology, epilepsy

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Relation: https://www.medgen-journal.ru/jour/article/view/1154/809

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https://doi.org/10.25557/2073-7998.2020.04.55-56

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10

Academic Journal

Possibilities of molecular-genetic diagnosis of Duchenne/Becker myodystrophy ; Возможности молекулярно-генетической диагностики миодистрофии Дюшенна/Беккера

Authors: N. V. Tkacheva, I. V. Soprunova, N. V. Androsova, I. A. Sinelnikova, V. V. Belopasov, A. V. Rakitskaya, Н. В. Ткачева, И. В. Сопрунова, Н. В. Андросова, И. А. Синельникова, В. В. Белопасов, А. В. Ракицкая

Source: Medical Genetics; Том 19, № 4 (2020); 73-74 ; Медицинская генетика; Том 19, № 4 (2020); 73-74 ; 2073-7998

Subject Terms: myodystrophy, нервно-мышечные заболевания, миодистрофия, children, neuromuscular diseases

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Relation: https://www.medgen-journal.ru/jour/article/view/1162/817

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https://doi.org/10.25557/2073-7998.2020.04.73-74

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11

Academic Journal

Optimization of the pre-analytical stage of material processing for histochemical examination of skeletal muscle biopsies in the diagnosis of neuromuscular diseases ; Оптимизация преаналитического этапа обработки материала для проведения гистохимического исследования биоптатов скелетной мышцы в диагностике нервно-мышечных заболеваний

Authors: A. M. Sycheva, V. D. Nazarova, S. V. Lapin, M. G. Rybakova, D. I. Rudenko, А. М. Сычева, В. Д. Назаров, С. В. Лапин, М. Г. Рыбакова, Д. И. Руденко

Source: Neuromuscular Diseases; Том 9, № 2 (2019); 21-29 ; Нервно-мышечные болезни; Том 9, № 2 (2019); 21-29 ; 2413-0443 ; 2222-8721 ; 10.17650/2222-8721-2019-9-2

Subject Terms: нервно-мышечные заболевания, histochemical study, artifacts, neuromuscular diseases, гистохимическое исследование, артефакты

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Relation: https://nmb.abvpress.ru/jour/article/view/323/236; Dubowitz V., Sewry C., Oldfors A. Muscle Biopsy: A Practical Approach. 4th Edition. USA: Saunders Elsevier, 2013. 572 p.; Challa S. Muscle Biopsy. 1st Edition. Croatia: InTech, 2011. 154 p.; Mills S.E. Histology for Pathologists. 3rd Edition. USA: Lippincott Williams & Wilkins, 2007. 1280 p.; Киссели Д. Практическая микротехника и гистохимия. Будапешт: Издательство академии наук Венгрии, 1962. 382 с.; Тимофеев А.В., Агапов М.М., Ваганова А.Н., Симонов В.С. Конспект лаборанта-гистолога. Основы гистологического процесса. СПб: ЭЛБИ-СПб, 2015. 369 с.; Шатилло А.В. Гистохимическая диагностика в клинике редких нервно-мышечных заболеваний: краткая информация и клинические примеры. Международный неврологический журнал 2013;1(55):21–4.; Rabi N.T., Shannon V. Neuromuscular Disorders. USA: Wiley-Blackwell, 2011. 267 p.; Joyce N.C., Oskarsson B., Jin L.W. Muscle biopsy evaluation in neuromuscular disorders. Phys Med Rehabil Clin N Am 2012;23(3):609–31. DOI:10.1016/j.pmr.2012.06.006. PMID: 22938878.; https://nmb.abvpress.ru/jour/article/view/323

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https://doi.org/10.17650/2222-8721-2019-9-2-21-29

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Report

ПРОБЛЕМЫ НОРМАТИВНО-ПРАВОВОГО РЕГУЛИРОВАНИЯ ОРГАНИЗАЦИИ ПРОВЕДЕНИЯ РЕАБИЛИТАЦИОННЫХ МЕРОПРИЯТИЙ ПАЦИЕНТАМ СО СПИНАЛЬНОЙ МЫШЕЧНОЙ АТРОФИЕЙ 5q В РОССИИ

Subject Terms: clinical guidelines, наследственные нервно-мышечные заболевания, клинические рекомендации, спинальная мышечная атрофия, реабилитация, организация здравоохранения, hereditary neuromuscular diseases, healthcare organization, 3. Good health, rehabilitation, spinal muscular atrophy

13

Academic Journal

Cardiac lesion in children with inherited neuromuscular diseases ; Поражение сердца при наследственных нервно-мышечных заболеваниях у детей

Authors: O. S. Groznova, G. E. Rudenskaya, T. A. Adyan, D. A. Kharlamov, О. С. Грознова, Г. Е. Руденская, Т. А. Адян, Д. А. Харламов

Source: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 59, № 2 (2014); 35-42 ; Российский вестник перинатологии и педиатрии; Том 59, № 2 (2014); 35-42 ; 2500-2228 ; 1027-4065 ; undefined

Subject Terms: нарушение проводимости сердца, neuromuscular diseases, myopathy, myodystrophy, amyotrophy, myotonia, cardiovascular disorders, cardiomy-opathy, cardiac rhythm disturbance, cardiac conduction disturbance, нервно-мышечные заболевания, миопатия, миодистрофия, амиотрофия, миотония, сердечно-сосудистые нарушения, кардиомиопатия, нарушение ритма сердца

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Relation: https://www.ped-perinatology.ru/jour/article/view/202/242; Finsterer J., Stujlberger С, Wahbi К. Cardiomyopathy in neurological disordeis. Cardiovasc Pathol 2013; 22:5:389—400.; Finsterer J., Stuflberger C. Primary myopathies and the heart. Scand Cardiovasc J 2008; 42: 1: 9—24.; Kostareva A., Sejersen Т., Sjoberg G. Genetic spectrum ofcardiomyopathies with neuromuscular phenotype. Front Biosci (Schol Ed) 2013; 5: 325-340.; Kaplan J., Hamroun D. The 2014 version of the gene table of monogenic neuromuscular disorders (nuclear genome). Neuromuscular Disorders 2013; 23: 1081—1111.; Perrot A., Spuler S., Geier C, Dietz R-, Osterziel K.J. Cardiac manifestations of muscular dystrophies. Z Kardiol 2005; 94: 5: 312-320.; Hsu D.T. Cardiac manifestations of neuromuscular disorders in children. Paediatr Respir Rev 2010; 11: 1: 35—38.; KatzbergH, Karamchandani J., So Y.T., Vogel H, Wang C.H. End-stage cardiac disease as an initial presentation of systemic myopathies: case series and literature review. J Child Neurol 2010; 25: 11: 1382-1388.; English K. M., Gibbs J. L. Cardiac monitoring and treatment for children and adolescents with neuromuscular disorders. Dev Med Child Neurol 2006; 48: 3: 231-235.; Hermans M.C., Pinto Y.M., Merkies I.S. et al. Hereditary muscular dystrophies and the heart. Neuromuscul Disord 2010; 20: 8: 479-492.; Posada Rodrnguez, I.J-, Gutiurrez-Rivas E., Cabello A. Cardiac involvement in neuromuscular diseases. Rev Esp Cardiol 1997; 50: 12: 882-901.; Limongelli G., D'Alessandro R., Maddaloni V. et al. Skeletal muscle involvement in cardiomyopathies. J Cardiovasc Med (Hagerstown) 2013; 14: 12: 837—861.; Fayssoil A., Nardi O., Orlikowski D., Annane D. Cardiomyopathy in Duchenne muscular dystrophy: pathogenesis and therapeutics. Heart Fail Rev 2010; 15: 1: 103-107.; Carboni N, Mura M., Mercuri E. et al. Cardiac and muscle imaging findings in a family with X-linked Emery-Dreifuss muscular dystrophy. Neuromuscul Disord 2012; 22: 2:152—158.; James J., Kinnett K., Wang Y. et al. Electrocardiographic abnormalities in very young Duchenne muscular dystrophy patients precede the onset of cardiac dysfunction. Neuromuscul Disord 2011; 21: 7: 462—467.; Ergul Y, Ekici В., Nisli K. et al. Evaluation of the North Star Ambulatory Assessment scale and cardiac abnormalities in ambulant boys with Duchenne muscular dystrophy. J Paediatr Child Health 2012; 10: 1440.; Kaspar R.W., Allen H.D., Montanaro F. Current understanding; and management of dilated cardiomyopathy in Duchenne and Becker muscular dystrophy. JAm Acad Nurse Pract 2009; 21: 5: 241-249.; Nigro G., Comi L. I., Limongelli F. M. et al. The incidence and evoluation of cardiomyopathy in Duchenne muscular dystrophy. Int J of Cardiology 1990; 26: 271.; Ерознова О.С, Еренева М.С. Применение ингибиторов ангиотензинпревращающего фермента и бета-блока-торов у больных миопатией Дюшенна в длительном катамнезе. Рос вестн перинатол и педиат 2012; 4: 1: 87—89. (Groznova O.S., Treneva M.S. Use of an angiotensin-converting enzyme inhibitor and a beta-blocker in patients with Duchenne muscular dystrophy during a long term follow up. Ros vestn perinatal i pediatr 2012; 4(1): 87—89.); Connuck D.M., Sleeper L.A., Colan S.D. et al. Characteristics and Outcomes of Cardiomyopathy in Children with Duchenne or Becker Muscular Dystrophy: A Comparative Study from The Pediatric Cardiomyopathy Registry. Am Heart J 2008; 155:6:998-1005.; Ерознова О.С, Артемьева СБ. Поражение сердечно-сосудистой системы при прогрессирующей мышечной дистрофии Беккера. Рос вестн перинатол и педиат 2013; 4: 83—87. (Groznova O.S., Artem'eva S.B. Cardiovascular system lesion in Becker's progressive muscular dystrophy. Ros vestn perinatal i pediatr 2013; 4; 83—87.); Puckelwartz, M., McNally E.M. Emery-Dreifuss muscular dystrophy. Handb Clin Neurol 2011; 101: 155—166.; Nigro G., Russo V., Ventriglia V.M. et al. Early onset of cardiomyopathy and primary prevention of sudden death in X-linked Emery-Dreifuss muscular dystrophy. Neuromuscul Disord 2010; 20: 3: 174—177.; Ерознова О.С, Новиков П.В. Ранняя диагностика поражения сердца при Х-сцепленной форме мышечной дистрофии Эмери—Дрейфусса у детей. Рос вестн перина-толипедиатр 2011; 1: 27—32. (GroznovaО.S., NovikovP.V. Early diagnosis of cardiac lesion in X-linked Emery-Dreifus muscular dystrophy in children. Ros vestn perinatal i pediatr 2011; 1:27-32.); Ерознова О.С, Еренева М.С. Генетические аспекты возникновения жизнеугрожаемых состояний у больных миопатией. Рос вестн перинатол и педиат 2011; 5: 38— 41. (Groznova O.S., Treneva M.S. Genetic aspects of the occurrence of life-threatening conditions in patients with myopathy. Ros vestn perinatal ipediat 2011; 5: 38—41.); Ishikawa K., Mimuro M., Eanaka E. 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Role of stretch therapy in comprehensive physical habilitation of patients with Charcot–Marie–Tooth hereditary neuropathy ; Роль стрейч-терапии в комплексной физической абилитации больных с наследственной невропатией Шарко–Мари–Тута

Authors: N. A. Shnayder, S. I. Goncharova, Наталья Алексеевна Шнайдер, С. И. Гончарова

Source: Neuromuscular Diseases; Том 5, № 1 (2015); 35-41 ; Нервно-мышечные болезни; Том 5, № 1 (2015); 35-41 ; 2413-0443 ; 2222-8721 ; 10.17650/2222-8721-2015-5-1

Subject Terms: диапазон движений, neuromuscular disease, contracture, stretch-therapy, physical habilitation, quality of life, balance, splintage, foot drop, range of motions, нервно-мышечные заболевания, контрактуры, стрейч-терапия, физическая абилитация, качество жизни, равновесие, шинирование, свисающая стопа

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