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Статті в журналах з теми "Neuromuscular diseases Diagnosis"

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Younger, David S., and Paul H. Gordon. "DIAGNOSIS IN NEUROMUSCULAR DISEASES." Neurologic Clinics 14, no. 1 (February 1996): 135–68. http://dx.doi.org/10.1016/s0733-8619(05)70247-4.

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2

Mary, P., L. Servais, and R. Vialle. "Neuromuscular diseases: Diagnosis and management." Orthopaedics & Traumatology: Surgery & Research 104, no. 1 (February 2018): S89—S95. http://dx.doi.org/10.1016/j.otsr.2017.04.019.

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3

Musteață, Mihai. "Diagnosis and management of neuromuscular diseases." Practica Veterinara.ro 4, no. 33 (2018): 25. http://dx.doi.org/10.26416/pv.33.4.2018.2104.

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Maruyama, Rika, and Toshifumi Yokota. "Molecular Diagnosis and Novel Therapies for Neuromuscular Diseases." Journal of Personalized Medicine 10, no. 3 (September 16, 2020): 129. http://dx.doi.org/10.3390/jpm10030129.

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Анотація:
With the development of novel targeted therapies, including exon skipping/inclusion and gene replacement therapy, the field of neuromuscular diseases has drastically changed in the last several years. Until 2016, there had been no FDA-approved drugs to treat Duchenne muscular dystrophy (DMD), the most common muscular dystrophy. However, several new personalized therapies, including antisense oligonucleotides eteplirsen for DMD exon 51 skipping and golodirsen and viltolarsen for DMD exon 53 skipping, have been approved in the last 4 years. We are witnessing the start of a therapeutic revolution in neuromuscular diseases. However, the studies also made clear that these therapies are still far from a cure. Personalized genetic medicine for neuromuscular diseases faces several key challenges, including the difficulty of obtaining appropriate cell and animal models and limited its applicability. This Special Issue “Molecular Diagnosis and Novel Therapies for Neuromuscular/Musculoskeletal Diseases” highlights key areas of research progress that improve our understanding and the therapeutic outcomes of neuromuscular diseases in the personalized medicine era.
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Angelini, Corrado. "Neuromuscular diseases: advances in therapy and diagnosis." Lancet Neurology 11, no. 1 (January 2012): 15–17. http://dx.doi.org/10.1016/s1474-4422(11)70271-x.

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6

Camilleri, Michael. "Diagnosis and treatment of enteric neuromuscular diseases." Clinical Autonomic Research 13, no. 1 (February 1, 2003): 10–15. http://dx.doi.org/10.1007/s10286-003-0073-y.

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7

Lobzin, V. S. "Paroxismal states in neuromuscular diseases." Neurology Bulletin XXV, no. 1-2 (September 20, 1993): 77–80. http://dx.doi.org/10.17816/nb105961.

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The diagnosis, clinical picture, problems of patogenesis and emergency medical service in myasthenia and Lambert-Itons syndrome are considered, for the most part in crises with disorders in respiration and cardiac activity, crisis states in Tomsens myotonia and dystrophyc myotonia as well as in the large group of so-called dispotassemic paralyses, thyrotoxic myopathy and some other rarer forms of neuromuscular diseases.
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Rivas, E., A. Sáez, A. Montero-Sánchez, C. Paradas, B. Acha, A. Pascual, C. Serrano, and L. Escudero. "Quantifiable diagnosis of neuromuscular diseases through network analysis." Neuromuscular Disorders 25 (October 2015): S243. http://dx.doi.org/10.1016/j.nmd.2015.06.211.

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9

Hodgkinson, V., J. Lounsberry, S. M’Dahoma, A. Russell, G. Jewett, T. Benstead, B. Brais, et al. "The Canadian Neuromuscular Disease Registry 2010–2019: A Decade of Facilitating Clinical Research Througha Nationwide, Pan-NeuromuscularDisease Registry." Journal of Neuromuscular Diseases 8, no. 1 (January 1, 2021): 53–61. http://dx.doi.org/10.3233/jnd-200538.

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We report the recruitment activities and outcomes of a multi-disease neuromuscular patient registry in Canada. The Canadian Neuromuscular Disease Registry (CNDR) registers individuals across Canada with a confirmed diagnosis of a neuromuscular disease. Diagnosis and contact information are collected across all diseases and detailed prospective data is collected for 5 specific diseases: Amyotrophic Lateral Sclerosis (ALS), Duchenne Muscular Dystrophy (DMD), Myotonic Dystrophy (DM), Limb Girdle Muscular Dystrophy (LGMD), and Spinal Muscular Atrophy (SMA). Since 2010, the CNDR has registered 4306 patients (1154 pediatric and 3148 adult) with 91 different neuromuscular diagnoses and has facilitated 125 projects (73 academic, 3 not-for-profit, 3 government, and 46 commercial) using registry data. In conclusion, the CNDR is an effective and productive pan-neuromuscular registry that has successfully facilitated a substantial number of studies over the past 10 years.
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Fernandes, Isabella Araujo Mota, Renata Oliveira Almeida Menezes, and Guilhermina Rego. "EMPATIA: A Guide for Communicating the Diagnosis of Neuromuscular Diseases." International Journal of Environmental Research and Public Health 19, no. 16 (August 9, 2022): 9792. http://dx.doi.org/10.3390/ijerph19169792.

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Introduction: Neuromuscular diseases comprise a heterogeneous group of genetic syndromes that lead to progressive muscle weakness, resulting in functional limitation. There is a gap in the literature regarding the communication of the diagnosis of such diseases, compromising the autonomy of patients and families, besides causing stress on the assistant physician. Objectives: Developing a guide to reduce communication barriers in the diagnosis of neuromuscular diseases. Methodology: Systematic review, after searching the descriptors (“Muscular Diseases” OR “Neuromuscular Diseases”) AND (“Truth Disclosure” OR “Bad news communication” OR “Breaking bad News”) in the Pubmed, Bireme, and Scopus websites, and these results were analyzed through narrative textual synthesis. Results: 16 articles were submitted to the final analysis, giving rise to seven steps to support the communication process. These are Empathy, Message, Prognosis, Reception, Time, Individualization, and Autonomy. Discussion and conclusion: The empathic transmission of the message and the prognosis must accommodate the feelings of the interlocutors with different information needs. In this way, communication planning optimizes the time and individualizes each context, respecting the autonomy of those involved. EMPATIA reflects the bioethical and interdisciplinary analysis of the literature and comes to fill the gap related to the communication of bad news in neuromuscular diseases.
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Дисертації з теми "Neuromuscular diseases Diagnosis"

1

Braida, Claudia. "Molecular analysis of myotonic dystrophy type 1 patients with an unusual molecular diagnosis." Thesis restricted. Connect to e-thesis to view abstract, 2008. http://theses.gla.ac.uk/359/.

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Анотація:
Thesis (Ph.D.) - University of Glasgow, 2008.
Ph.D. thesis submitted to the Division of Molecular Genetics, Institute of Biomedical and Life Sciences, University of Glasgow, 2008. Includes bibliographical references. Print version also available.
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2

Maile, Charlotte Amy. "Pathophysiology of equine type1 polysaccharide storage myopathy." Thesis, Royal Veterinary College (University of London), 2013. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.618291.

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3

Kuschel, Franziska. "Die medizinische Versorgung erwachsener Patienten mit Muskelerkrankungen." Doctoral thesis, Humboldt-Universität zu Berlin, Medizinische Fakultät - Universitätsklinikum Charité, 2006. http://dx.doi.org/10.18452/15466.

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Im Frühjahr/Sommer 2002 wurde eine Befragung von 51 erwachsenen Patienten im Raum Berlin-Brandenburg mit seltenen Muskelerkrankungen bzw. neuromuskulären Erkrankungen zu verschiedenen Aspekten der medizinischen Versorgung durchgeführt. Angewandte Methoden waren ein standardisierter Fragebogen sowie ein Leitfadeninterview. Vom ersten Arztbesuch bis zur in 59% der Fälle im Krankenhaus erfolgten Diagnosestellung einer Muskelerkrankung vergingen durchschnittlich 4,1 Jahre (Median: 1 Jahr). Es fanden sich eine unzureichende Anamneseerhebung und körperliche Untersuchung sowie eine mangelnde Überweisungsbereitschaft an Neurologen. Eine signifikante Verzögerung erlitten Patienten, die anstelle eines Hausarztes zunächst einen anderen Facharzt als den Neurologen aufgesucht hatten. 43% der Patienten hatten Schwierigkeiten, im Anschluss einen kompetenten Arzt für die Langzeitbetreuung zu finden. Fragen der Vererbbarkeit sowie der respiratorischen und kardialen Komplikationen wurden unzu! reichend besprochen. Im Verlauf erfolgte eine mangelnde Überwachung der respiratorischen sowie kardialen Funktion. Die Verordnung von Physiotherapie und Hilfsmitteln wurde dagegen gut bewertet. Bei 51% der Patienten kam es auch nach der Diagnosestellung zu Krankenhausaufenthalten. 22% der Patienten mussten wegen Komplikationen stationär behandelt werden. Insgesamt zeigten sich Defizite in der medizinischen Versorgung, wie sie z.T. bereits in Expertenstellungnahmen bzw. wenigen anderen Studien berichtet wurden. Für den Bereich der seltenen Erkrankungen gilt eine Spezialambulanz als geeignetes Versorgungsmodell, welches die spezialisierte, multidisziplinäre Betreuung der Patienten sichern soll. Solche Einrichtungen existieren mittlerweile in Deutschland, Outcome-Studien fehlen jedoch bisher.
In spring/summer 2002 a group of 51 adult patients in Berlin-Brandenburg suffering from a muscle or a neuromuscular disease were questioned concerning various aspects of their medical care. The applied methods were a standardized questionnaire and a qualitative interview. The average time between the first consultation of a physician and the establishment of the diagnosis of a muscle disease was 4,1 years (median: 1 year). 59% of the patients received their diagnosis at a hospital. An insufficient history-taking, lacks in the physical examination and a reluctance to refer the patient to a neurologist could be identified. There was a significant delay for those patients who initially consulted a non-neurological specialist instead of a general physician. 43% of the patients had difficulties in finding a qualified physician for the long-time care. The patients were insufficiently informed about the heredity of their disease and about possible respiratory and cardiac complicati! ons. There was a lack in following up the respiratory and cardiac functions of the patients. The prescription of physiotherapy and aids was rated positively by the patients. 51% of the patients had hospital stays also after having their diagnosis. 22% were admitted to hospital due to complications of their disease. In general, deficits in the medical care for these patients were shown, similar to those described in expert opinions or few preview studies. A specialized hospital-based outpatient centre that should ensure the specialized multidisciplinary care for the patients is regarded as the model for the medical care in the area of rare diseases. Similar centres exist in Germany by now, but there are no outcome-studies yet.
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"Metabolomic strategies for early diagnosis of myasthenia gravis and efficacy evaluation of Qiangji Jianli Fang." 2013. http://library.cuhk.edu.hk/record=b5549768.

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Анотація:
重症肌無力是由自身抗體在神經肌肉接頭特異性的結合乙酰膽鹼受體和肌肉特異性激酶引起的一種獲得性免疫性疾病。疾病的主要症狀是骨骼肌的軟弱無力和易疲勞性。這一症狀在運動後尤為顯著,休息後會有所緩解。重症肌無力在世界範圍的發病率是百萬分之三到三十。由於近年來患者的數量在不斷增加,重症肌無力引起了醫學界的廣泛關注。但是,目前的診斷和治療措施還不能完全滿足臨床病人的需要。在本課題研究中,我們希望運用代謝組學的手段建立一種新的更加有效可靠的方法用於重症肌無力的診斷。同時,我們希望在代謝物的水平上來闡釋強肌健力方(一種中藥復方)對重症肌無力的治療作用。
本研究所用樣本來自42個重症肌無力病人和16個健康志願者。樣本由廣州中醫藥大學第一附屬醫院於二零零七年到二零零八年收集所得。診斷後,病人每日口服一定劑量的強肌健力方接受治療,連續服藥兩個月。分別在服藥前和治療後對病人抽血採樣。進一步分離血清後,樣品進行質譜分析。多元統計學方法如主成分分析,正交偏最小二乘和正交偏最小二乘判別分析等用於質譜數據的分析。
通過和健康者比較分析,我們在重症肌無力病人的血液中找到142個顯著改變的離子。其中,14個離子得到鑒定,包括:γ-氨基丁酸,2-哌啶酸,鳥氨酸,5,8-十四碳二羧酸,精胺,己酰肉毒鹼,N-油酰基甘氨酸,鞘氨醇-1-磷酸,聯原膽酸,糞甾烷酸,植物鞘氨醇-1-磷酸,鵝去氧膽酸甘氨酸結合物,輔酶Q4和甘氨酸膽。基於以上142個離子建立的數學診斷模型在診斷重症肌無力時表現出很高的靈敏度和特異性,分別高達92.8%和83.3%。強肌健力方能夠逆轉由重症肌無力引起的特異性代謝變化,將病人體內被改變的代謝網絡恢復正常,特別是大部分的代謝標誌物在治療後都恢復到了相對正常水平,包括:γ-氨基丁酸,哌啶酸,鳥氨酸,5,8-十四碳二羧酸,精胺,己酰肉毒鹼,N-油酰甘氨酸,鞘氨醇-1-磷酸,聯原膽酸,輔酶Q4和甘氨酸膽。
本研究揭示了基於液質聯用的代謝組學方法適用於探索重症肌無力的代謝標誌物,並提供了一種可用於診斷重症肌無力的新方法。同時,本研究證實強肌健力方適用於重症肌無力的治療,且無明顯副作用。
Myasthenia gravis (MG) is an acquired autoimmune disease caused by specific autoantibodies against acetylcholine receptors (AChRs) and muscle-specific kinase (MuSK) proteins at the neuromuscular junctions. The disease is characterized by weakness and fatigability of the voluntary muscles that gets worse with exertion and improves with rest. The global incidence rate of MG is about 3-30 cases per million per year. In recent years, the worldwide prevalence rate of MG is increasing as a result of increased awareness. However, current diagnostic measures and treatments are not conclusive and satisfactory for MG. In this study, a mass spectrometry-based metabolomic strategy was applied to develop a novel and reliable diagnostic measure for MG on the basis of metabolic analysis, and to explore the therapeutic effect of Qiangji Jianli Fang (QJF, a newly developed Chinese medicine formula) on MG at the metabolite level.
Total 42 MG patients (13 males and 29 females) and 16 volunteers (5 males and 11 females) were recruited at the First Affiliated Hospital of Guangzhou University of Chinese Medicine between March 2007 and March 2008. The patients took QJF once per day for 2 months. Peripheral blood from patients was collected at diagnosis and after 2-month treatment, respectively. Sera prepared from the blood samples were monitored by the liquid chromatography Fourier transform mass spectrometry (LC-FTMS). Mass spectral data were analyzed by multivariate statistical analyses, including principal component analysis (PCA), orthogonal partial least squares (OPLS), and orthogonal partial least squares discriminant analysis (OPLS-DA).
By comparing analysis with the healthy volunteers, 142 significantly changed ions from serum metabolic profile of MG patients were picked out as the potential biomarkers of MG. Among of them, 14 ions were temporarily identified. They were gamma-aminobutyric acid (GABA), pipecolic acid, ornithine, 5,8-tetradecadienoic acid, spermine, hexanoylcarnitine, N-oleoyl glycine, sphingosine-1-phosphate (S1P), bisnorcholic acid, coprocholic acid, phytosphingosine-1-P, chenodeoxycholylglycine, coenzyme Q4, and cholylglycine. The developed OPLS-DA diagnostic model based on the 142 special ions showed a high sensitivity (92.8%) and specificity (83.3%) in detecting MG. QJF showed a powerful action on MG by recovering the holistic serum metabolic profile from the disease level to the normal level. Especially, the levels of GABA, pipecolic acid, ornithine, 5,8-tetradecadienoic acid, spermine, hexanoylcarnitine, N-oleoyl glycine, S1P, bisnorcholic acid, coenzyme Q4, and cholylglycine in MG patients were regulated to a relatively normal level after QJF treatment.
My results first indicated that the LC-FTMS-based metabolomics was a useful tool in biomarkers exploration of MG, and it was potentially applicable as a new diagnostic approach for MG. Also, my results demonstrated that QJF was a good optional choice for the treatment of MG, with no reported side effects.
Detailed summary in vernacular field only.
Detailed summary in vernacular field only.
Detailed summary in vernacular field only.
Detailed summary in vernacular field only.
Lu, Yonghai.
Thesis (Ph.D.)--Chinese University of Hong Kong, 2013.
Includes bibliographical references (leaves 113-129).
Abstract also in Chinese.
Thesis committee --- p.i
Declaration --- p.ii
Abstract (in English) --- p.iii
Abstract (in Chinese) --- p.vi
Acknowledgements --- p.viii
Table of contents --- p.ix
Abbreviations --- p.xiv
List of Tables --- p.xviii
List of Figures --- p.xix
Chapter 1: Introduction --- p.1
Chapter 1.1 --- Myasthenia gravis --- p.1
Chapter 1.1.1 --- History --- p.1
Chapter 1.1.2 --- Epidemiology --- p.2
Chapter 1.1.3 --- Clinical features --- p.2
Chapter 1.1.4 --- Clinical classification --- p.4
Chapter 1.1.5 --- Pathophysiology --- p.5
Chapter 1.1.6 --- Diagnosis --- p.9
Chapter 1.1.6.1 --- Physical examination --- p.9
Chapter 1.1.6.2 --- Blood test --- p.10
Chapter 1.1.6.3 --- Electrodiagnostic test --- p.10
Chapter 1.1.6.4 --- Edrophonium test --- p.11
Chapter 1.1.6.5 --- Imaging --- p.11
Chapter 1.1.6.6 --- Pulmonary function test --- p.11
Chapter 1.1.7 --- Treatment --- p.12
Chapter 1.1.7.1 --- Medication --- p.12
Chapter 1.1.7.2 --- Thymectomy --- p.12
Chapter 1.1.7.3 --- Plasmapheresis and intravenous immunoglobulin --- p.13
Chapter 1.2 --- Qiangji Jianli Fang --- p.14
Chapter 1.2.1 --- Huang qi --- p.15
Chapter 1.2.2 --- Dang shen --- p.16
Chapter 1.2.3 --- Bai shu --- p.16
Chapter 1.2.4 --- Dang gui --- p.17
Chapter 1.2.5 --- Sheng ma --- p.17
Chapter 1.2.6 --- Chai hu --- p.18
Chapter 1.2.7 --- Chen pi --- p.18
Chapter 1.2.8 --- Gan cao --- p.19
Chapter 1.3 --- Metabolomics --- p.19
Chapter 1.3.1 --- What’s metabolomics? --- p.20
Chapter 1.3.1.1 --- Metabolites --- p.20
Chapter 1.3.1.2 --- Metabolome --- p.21
Chapter 1.3.1.3 --- Two terms: metabolomics and metabonomics --- p.21
Chapter 1.3.2 --- How metabolomics works? --- p.22
Chapter 1.3.2.1 --- Sample preparation --- p.22
Chapter 1.3.2.1.1 --- Quenching --- p.23
Chapter 1.3.2.1.2 --- Separating metabolites --- p.24
Chapter 1.3.2.1.3 --- Sample concentration --- p.24
Chapter 1.3.2.2 --- Analytical technologies (Sample analysis) --- p.25
Chapter 1.3.2.3 --- Data analysis --- p.26
Chapter 1.3.2.4 --- Database --- p.28
Chapter 1.3.3 --- Why metabolomics? --- p.29
Chapter 1.3.4 --- Metabolomics for human diseases --- p.30
Chapter 1.3.5 --- Metabolomics for Traditional Chinese Medicine --- p.32
Chapter 1.4 --- Objectives and significances of the present study --- p.34
Chapter Chapter 2 --- Metabolic biomarkers of myasthenia gravis --- p.36
Chapter 2.1 --- Introduction --- p.36
Chapter 2.2 --- Materials and methods --- p.40
Chapter 2.2.1 --- Chemicals --- p.40
Chapter 2.2.2 --- Patients --- p.40
Chapter 2.2.3 --- Volunteers --- p.42
Chapter 2.2.4 --- Blood collection --- p.43
Chapter 2.2.5 --- QC samples --- p.43
Chapter 2.2.6 --- Sample processing --- p.43
Chapter 2.2.7 --- Liquid chromatography-mass spectrometry --- p.44
Chapter 2.2.8 --- Data analysis --- p.45
Chapter 2.2.9 --- Metabolite identification --- p.45
Chapter 2.3 --- Results --- p.46
Chapter 2.3.1 --- Method validation --- p.46
Chapter 2.3.2 --- An overall comparative analysis between 28 patients and 10 volunteers --- p.48
Chapter 2.3.3 --- Classification of MG --- p.53
Chapter 2.3.4 --- Comparative analysis of the metabolic changes in early- and late-stage MG patients respectively --- p.54
Chapter 2.3.5 --- Biomarker identification --- p.56
Chapter 2.4 --- Discussion --- p.58
Chapter 2.5 --- Conclusion --- p.63
Chapter Chapter 3 --- A novel diagnostic approach for myasthenia gravis --- p.64
Chapter 3.1 --- Introduction --- p.64
Chapter 3.2 --- Materials and methods --- p.68
Chapter 3.2.1 --- Chemicals --- p.68
Chapter 3.2.2 --- Patients and Volunteers --- p.69
Chapter 3.2.2.1 --- Training set for establishment of diagnostic model --- p.69
Chapter 3.2.2.2 --- Test set for evaluation of diagnostic model --- p.69
Chapter 3.2.3 --- QC samples --- p.70
Chapter 3.2.4 --- Sample processing --- p.71
Chapter 3.2.5 --- Chromatography --- p.71
Chapter 3.2.6 --- Mass spectrometry --- p.72
Chapter 3.2.7 --- Data analysis --- p.72
Chapter 3.3 --- Results --- p.72
Chapter 3.3.1 --- Method validation --- p.73
Chapter 3.3.2 --- Alterations in serum metabolic profile under MG --- p.74
Chapter 3.3.3 --- Prediction of MG based on biomarkers --- p.74
Chapter 3.3.4 --- Establishment of diagnostic model on the basis of metabolic profile --- p.77
Chapter 3.3.5 --- Prediction of MG with diagnostic model --- p.79
Chapter 3.4 --- Discussion --- p.80
Chapter 3.5 --- Conclusion --- p.83
Chapter Chapter 4 --- Qiangji Jianli Fang treatment for myasthenia gravis --- p.84
Chapter 4.1 --- Introduction --- p.84
Chapter 4.2 --- Materials and methods --- p.88
Chapter 4.2.1 --- Chemicals --- p.88
Chapter 4.2.2 --- Herbs --- p.88
Chapter 4.2.3 --- Participants --- p.88
Chapter 4.2.4 --- QC samples --- p.90
Chapter 4.2.5 --- Sample processing --- p.90
Chapter 4.2.6 --- Liquid chromatography-mass spectrometry --- p.90
Chapter 4.2.7 --- Data analysis --- p.91
Chapter 4.3 --- Results --- p.91
Chapter 4.3.1 --- Method validation --- p.91
Chapter 4.3.2 --- Symptomatic examination after QJF treatment --- p.92
Chapter 4.3.3 --- Holistic metabolic responses to QJF treatment --- p.93
Chapter 4.3.4 --- MG biomarkers changes after QJF treatment --- p.95
Chapter 4.3.5 --- Drug-related biomarkers of QJF --- p.97
Chapter 4.4 --- Discussion --- p.100
Chapter 4.5 --- Conclusion --- p.103
Chapter Chapter 5 --- Conclusions --- p.104
Chapter Chapter 6 --- Perspectives --- p.107
Chapter 6.1 --- Experimental autoimmune myasthenia gravis model --- p.107
Chapter 6.2 --- Chemical composition of Qiangji Jianli Fang --- p.111
References --- p.113
Appendices --- p.130
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Книги з теми "Neuromuscular diseases Diagnosis"

1

E, Knobbout Charlotte, ed. Neuromuscular diseases. Oxford: Oxford University Press, 1987.

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2

Neuromuscular disorders. Chichester, West Sussex, UK: Wiley-Blackwell, 2011.

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3

M, Miller Robert. Dysphagia in neuromuscular diseases. San Diego: Plural Publishing, Inc., 2011.

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4

F, Howard James, and Harper C. Michel, eds. Neuromuscular junction disorders: Diagnosis and treatment. New York: Marcel Dekker, 2004.

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5

service), ScienceDirect (Online, ed. Neuromuscular junction disorders. Edinburgh: Elsevier, 2008.

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6

1941-, Schwartz Martin S., ed. Neuromuscular diseases: A practical approach to diagnosis and management. 3rd ed. London: Springer, 1997.

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7

1941-, Schwartz Martin S., ed. Neuromuscular diseases: A practical approach to diagnosis and management. 2nd ed. London: Springer-Verlag, 1988.

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8

S, Schwartz Martin, ed. Neuromuscular diseases: A practical approach to diagnosis and management. 2nd ed. Berlin: Springer-Verlag, 1988.

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9

Araim, Rawa Jaro. Neuromuscular quick pocket reference. New York: Demos Medical Pub., 2012.

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Neuromuscular disease: Evidence and analysis in clinical neurology. Totowa, N.J: Humana Press, 2006.

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Частини книг з теми "Neuromuscular diseases Diagnosis"

1

Venance, Shannon, and Rabi Tawil. "Neuromuscular Diseases: Approach to Clinical Diagnosis." In Neuromuscular Disorders, 1–5. Oxford, UK: Wiley-Blackwell, 2011. http://dx.doi.org/10.1002/9781119973331.ch1.

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Alpert, Jack N. "Neuromuscular Diseases: Neuroanatomic and Differential Diagnoses." In The Neurologic Diagnosis, 289–345. Cham: Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-95951-1_9.

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Alpert, Jack N. "Neuromuscular Diseases: Neuroanatomic and Differential Diagnoses." In The Neurologic Diagnosis, 179–205. New York, NY: Springer New York, 2011. http://dx.doi.org/10.1007/978-1-4419-6724-4_9.

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Sperl, Wolfgang, Daniela Skladal, Erich Gnaiger, Markus Wyss, Udo Mayr, Josef Hager, and Frank Norbert Gellerich. "High resolution respirometry of permeabilized skeletal muscle fibers in the diagnosis of neuromuscular disorders." In Detection of Mitochondrial Diseases, 71–78. Boston, MA: Springer US, 1997. http://dx.doi.org/10.1007/978-1-4615-6111-8_11.

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Almoallim, Hani, Hadiel Albar, and Fahtima Mehdawi. "Diagnostic Approach to Proximal Myopathy." In Skills in Rheumatology, 191–207. Singapore: Springer Singapore, 2021. http://dx.doi.org/10.1007/978-981-15-8323-0_9.

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Анотація:
AbstractPatients with muscle disorders are a diagnostic challenge to physicians, because of the various ways of presentation. A comprehensive approach should be followed systematically in order to reach the correct diagnosis. Weakness is a common symptom among patients including those with central or peripheral nervous systems diseases and those with muscular and/or neuromuscular diseases. Muscle weakness is not only a regular finding in rheumatologic diseases, but in inflammatory myopathies as well. This chapter focuses on skills needed to approach any patient that presents with weakness, specifically proximal myopathy.
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Benatar, Michael. "Diagnosis." In Neuromuscular Disease, 13–19. Totowa, NJ: Humana Press, 2006. http://dx.doi.org/10.1007/978-1-59745-106-2_2.

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Miranda, A. F., T. Mongini, E. Bonilla, A. D. Miller, and W. E. Wright. "Myogenic Conversion of Human Non-Muscle Cells for the Diagnosis and Therapy of Neuromuscular Diseases." In Myoblast Transfer Therapy, 205–10. Boston, MA: Springer US, 1990. http://dx.doi.org/10.1007/978-1-4684-5865-7_23.

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Agius, Mark A., David P. Richman, and Angela Vincent. "Autoantibody Testing in the Diagnosis and Management of Autoimmune Disorders of Neuromuscular Transmission and Related Diseases." In Myasthenia Gravis and Related Disorders, 143–56. Totowa, NJ: Humana Press, 2008. http://dx.doi.org/10.1007/978-1-59745-156-7_9.

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Agius, Mark A., David P. Richman, and Angela Vincent. "Specific Antibodies in the Diagnosis and Management of Autoimmune Disorders of Neuromuscular Transmission and Related Diseases." In Myasthenia Gravis and Related Disorders, 177–96. Totowa, NJ: Humana Press, 2003. http://dx.doi.org/10.1007/978-1-59259-341-5_8.

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Cao, Michelangelo, and Angela Vincent. "Autoantibody Testing in the Diagnosis and Management of Autoimmune Disorders of Neuromuscular Transmission and Related Diseases." In Myasthenia Gravis and Related Disorders, 153–68. Cham: Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-73585-6_10.

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Тези доповідей конференцій з теми "Neuromuscular diseases Diagnosis"

1

Horvath, Rita. "Mitochondrial Diseases: Diagnosis and Novel Approach for Treatment." In Congenital Dystrophies - Neuromuscular Disorders Precision Medicine: Genomics to Care and Cure. Hamad bin Khalifa University Press (HBKU Press), 2020. http://dx.doi.org/10.5339/qproc.2020.nmd.18.

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Sadi-Ahmed, Nafissa, Anis Messekher, Salim Namane, Malika Kedir-Talha, and Slimane Mekaoui. "Automatic diagnosis of neuromuscular diseases from electromyographic (EMG) records." In 2017 5th International Conference on Electrical Engineering - Boumerdes (ICEE-B). IEEE, 2017. http://dx.doi.org/10.1109/icee-b.2017.8192195.

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Straub, Volker. "The Role of Magnetic Resonance Imaging in the Diagnosis and Assessment of Patients with Genetic Muscle Diseases." In Congenital Dystrophies - Neuromuscular Disorders Precision Medicine: Genomics to Care and Cure. Hamad bin Khalifa University Press (HBKU Press), 2020. http://dx.doi.org/10.5339/qproc.2020.nmd.7.

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Somani, Vikas, A. Nisam Rahman, Devvret Verma, Radha Raman Chandan, R. G. VIdhya, and Vinodh P. Vijayan. "Classification of Motor Unit Action Potential Using Transfer Learning for the Diagnosis of Neuromuscular Diseases." In 2022 8th International Conference on Smart Structures and Systems (ICSSS). IEEE, 2022. http://dx.doi.org/10.1109/icsss54381.2022.9782209.

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Pinto, Wladimir Bocca Vieira de Rezende, Paulo Victor Sgobbi de Souza, Paulo Roberto Abrão Ferreira, Igor Braga Farias, José Marcos Vieira de Albuquerque Filho, Roberta Ismael Lacerda Machado, Bruno de Mattos Lombardi Badia, Márcio Luiz Escórcio Bezerra, Marcus Vinícius Magno Gonçalves, and Acary Souza Bulle Oliveira. "Post-COVID-19 mononeuritis multiplex: a potential complication in severe SARS-CoV- 2 infection survivors." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.030.

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Background: Neuromuscular involvement has been identified in acute and early stages of severe COVID-19. Guillain-Barre syndrome and variants, rhabdomyolysis and prone position-related neuropathy represent early complications. Mononeuritis multiplex is rarely a post-infectious complication. Objectives: Characterization of patients with mononeuritis multiplex after severe COVID-19. Methods, design and setting: We performed a retrospective observational study of clinical, laboratorial and neurophysiological aspects of nine Brazilian patients with mononeuritis multiplex after severe COVID-19 at the Division of Neuromuscular Diseases, Federal University of São Paulo (UNIFESP), São Paulo, Brazil. Results: Nine patients (4 male, 5 female) had mean age at diagnosis of 60.6 years. 78% had at least one risk factor for severe COVID-19. Dyspnea, cough, fever, headache, anosmia, odynophagia, and myalgia were the most common SARS-CoV-2 symptoms. Most patients had large length of stay in intensive care (35.8 days), with orotracheal intubation and the need of prone positioning and tracheostomy. 44% had venous or arterial thromboembolic complications. Mononeuritis multiplex symptoms started after 45.7 days (23-71) of first COVID-19 symptoms. Sensorimotor multifocal axonal mononeuritis multiplex was the most common pattern (78%) with moderate to severe (89%) and lower limb-dominant compromise (67%). 33% with LANSS pain scale >12 and 67% with high fatigue scores on Fatigue Severity Scale. Two patients developed moderate titles of positive antinuclear antibody for nuclear membrane compounds (titin) during diagnostic work-up. Three patients were treated with oral corticosteroids with moderate disease control. Conclusions: Mononeuritis multiplex may be a late neuromuscular complication after severe COVID-19. Vasculitis and endotheliopathy seem to mediate its pathophysiology.
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Goker, Imran, M. Baris Baslo, N. Gorkem Sirin, and A. Emre Oge. "Development of a Method to Analyze Compound Action Potential (CMAP) Scan Used in the Diagnosis and Monitoring of Neuromuscular Diseases." In 2018 Medical Technologies National Congress (TIPTEKNO). IEEE, 2018. http://dx.doi.org/10.1109/tiptekno.2018.8597153.

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Venture, Gentiane, Yoshihiko Nakamura, Katsu Yamane, and Masaya Hirashima. "A Painless and Constraint-free Method to Estimate Viscoelastic Passive Dynamics of Limbs' Joints to Support Diagnosis of Neuromuscular Diseases." In 2007 29th Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE, 2007. http://dx.doi.org/10.1109/iembs.2007.4353553.

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Moreira, Isabelle Caroline Fasolo Normandia, Rie Tiba Maglioni, Renata Dal Prá Ducci, Cláudia Suemi Kamoi Kay, Otto Jesus Hernandez Fustes, Lineu César Werneck, Paulo José Lorenzoni, and Rosana Hermínia Scola. "Epidemiological profile of myasthenia gravis patients at the Neuromuscular Diseases Service of the Hospital de Clínicas of the Federal University of Paraná." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.152.

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Background: Myasthenia Gravis (MG) is an autoimmune disease of the neuromuscular junction. In Brazil, epidemiological data regarding MG and its clinical aspects are limited. Objectives: The aim of this study was to describe the clinical and epidemiological profile of patients with MG at a referral center. Design and setting: Cross-sectional observational study performed on patients with Myasthenia Gravis age 18 years and older at Federal University of Paraná. Methods: Data were obtained through clinical evaluation and medical records. Results: The sample comprised 100 patients (67 females and 33 males). The median age at last appointment was 49.5 years (IQR 37-61). AntiAchR antibody was positive in 79 patients. Anti-MuSK antibody was positive in 6 positive patients. The Repetitive Nerve Stimulation (RNS) test presented abnormal result in 89 individuals. The main comorbidities reported were systemic arterial hypertension (SAH) (35%), mental health disorders (23%), diabetes mellitus (DM) (21%), dyslipidemia (18%), and hypothyroidism (13%). During the study period, the patients were on the following medications: pyridostigmine (88%), prednisone (42%), azathioprine (45%), cyclosporine (13%), and mycophenolate (6%). Thymectomy was performed in 30 patients, of whom 6 had a pathological diagnosis of thymoma, and five a pathological diagnosis of thymic hyperplasia. Conclusion: The patient profile as well as the prevalence of comorbidities in our MG sample were similar to previous studies. We also found that our sample presented a higher incidence of SAH, DM, mental health disorders and hypothyroidism compared with the general population.
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Camelo Filho, Antonio Edvan, Diego Sant’Ana Sodré, Halisson Flamini Arantes, and Carlos Otto Heise. "Covid-19 Brachial plexopathy: a case report." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.518.

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Context: The understanding of neuromuscular manifestations secondary to infection by SARS-CoV-2 is scarce. Peripheral neuropathies are a heterogeneous group of diseases affecting the peripheral nervous system, with a variable motor, sensitive and autonomic involvement. There are recent descriptions of atypical patterns of neuropathies after COVID-19. In this study we aim to report a brachial plexopathy secondary to COVID-19 with its clinical and electrophysiological characterization. We performed a cross-sectional, observational, descriptive, case report type, using medical record review. Case report: A 42 year-old female was hospitalized for 2 months due to severe respiratory syndrome due to COVID-19. She remained in the ICU for 20 days. During her stay in the ward she complained of weakness and pain in his right upper limb. Physical examination revealed weakness in the right shoulder abduction and elbow flexion. Nerve conduction studies demonstrated involvement of the upper trunk of the right brachial plexus. There was no report of trauma. Her BMI was 50 kg/m2. Conclusions: Recent studies bring atypical descriptions of focal neuropathies, multiple mononeuropathies and plexopathies, opening a new field of study in addition to the description of neuromuscular weakness following ICU stay after COVID-19. From an electrophysiological point of view, there is a recent interest in better characterization of patients with axonal neuropathies suggesting a possible vasculitic mechanism of neuronal damage after COVID-19. Further investigations are necessary to improve the characterization of this particular group, helping its diagnosis and early treatment to reduce complications and disabilities.
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Pinto, Wladimir Bocca Vieira de Rezende, Bruno de Mattos Lombardi Badia, Igor Braga Farias, José Marcos Vieira de Albuquerque Filho, Roberta Ismael Lacerda Machado, Paulo Victor Sgobbi de Souza, and Acary Souza Bulle Oliveira. "Expanding the neurological and imaging phenotype of women with adult-onset X- linked Adrenoleukodystrophy." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.019.

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Background: X-linked Adrenoleukodystrophy (X-ALD) represents a key inherited metabolic disorder in neurological practice, representing an important differential diagnosis in different neurological contexts. Symptomatic female patients have been scarcely studied in large cohorts. Objectives: Evaluation of clinical, laboratory and genetic findings from a Brazilian cohort of women with X-ALD. Methods, design and setting: We performed a retrospective observational study of clinical, biochemical, genetic, neuroimaging and neurophysiological aspects of 10 Brazilian female patients with X-linked Adrenoleukodystrophy under clinical follow-up at the Neurometabolic Unit, Division of Neuromuscular Diseases, Federal University of São Paulo (UNIFESP), São Paulo, Brazil. Results: Mean age at diagnosis was 46.2 years and at symptom-onset was 39 years. Female patients presented with spastic paraparesis and neurogenic bladder (60%), cognitive decline (50%), demyelinating sensorimotor polyneuropathy (40%), cerebellar ataxia (30%), epilepsy (20%), apraxia and psychotic symptoms (10%). The most common misdiagnosis were Primary Progressive Multiple Sclerosis and Hereditary Spastic Paraplegia. The main neuroimaging findings were corticospinal tract hyperintensity and cervical and thoracic spinal cord atrophy (60%), unspecific white matter changes (40%) and typical parieto-occipital leukodystrophy. All patients had abnormal profiles of plasma very-long chain fatty acids, all with elevated C26 levels and 80% with elevated C24 levels, but all with abnormally raised C26:C22 and C26:C24 ratio. The most common pathogenic variant observed was c.311G>A (p.Arg104His) (60%). Conclusions: Female patients with ABCD1 pathogenic variants must be carefully evaluated for neuropsychiatric disturbances and followed-up until elderly due to the common occurrence of variable motor, autonomic and sensory compromise.
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