Neuromuscular Junction Diseases

神经肌肉交界处疾病
  • 文章类型: Journal Article
    患有神经肌肉疾病的患者遭受与麻醉相关的围手术期并发症的风险增加。目前很少有关于这些患者的具体麻醉指导。这里,我们提出了欧洲神经肌肉中心(ENMC)关于神经肌肉疾病患者麻醉的共识声明,该声明是在第259届ENMC神经肌肉疾病麻醉研讨会上制定的.
    (儿科)麻醉领域的国际专家,神经学,和遗传学被邀请参加ENMC研讨会。在PubMed和Embase进行了文献检索,其中的主要发现已传播给与会者,并在研讨会上介绍。根据特定的专业知识,参与者介绍了现有的证据和他们对6组特定的肌病和神经肌肉接头疾病的麻醉管理的专家意见.共识声明是根据AGREEII(研究和评估指南评估)报告清单编写的。证据水平已根据SIGN(苏格兰大学间指南网络)评分系统进行了调整。最终的共识声明经过修改的Delphi过程。
    已经制定了一套对神经肌肉疾病患者的麻醉管理有效的一般建议。针对(i)神经肌肉接头疾病制定了具体建议,(ii)肌信道病(非营养不良性肌强直和周期性麻痹),(iii)强直性肌营养不良(1型和2型),(iv)肌营养不良,(v)先天性肌病和先天性营养不良,和(vi)线粒体和代谢性肌病。
    ENMC共识声明总结了神经肌肉疾病患者麻醉计划和实施的最重要考虑因素。
    Patients with neuromuscular conditions are at increased risk of suffering perioperative complications related to anaesthesia. There is currently little specific anaesthetic guidance concerning these patients. Here, we present the European Neuromuscular Centre (ENMC) consensus statement on anaesthesia in patients with neuromuscular disorders as formulated during the 259th ENMC Workshop on Anaesthesia in Neuromuscular Disorders.
    International experts in the field of (paediatric) anaesthesia, neurology, and genetics were invited to participate in the ENMC workshop. A literature search was conducted in PubMed and Embase, the main findings of which were disseminated to the participants and presented during the workshop. Depending on specific expertise, participants presented the existing evidence and their expert opinion concerning anaesthetic management in six specific groups of myopathies and neuromuscular junction disorders. The consensus statement was prepared according to the AGREE II (Appraisal of Guidelines for Research & Evaluation) reporting checklist. The level of evidence has been adapted according to the SIGN (Scottish Intercollegiate Guidelines Network) grading system. The final consensus statement was subjected to a modified Delphi process.
    A set of general recommendations valid for the anaesthetic management of patients with neuromuscular disorders in general have been formulated. Specific recommendations were formulated for (i) neuromuscular junction disorders, (ii) muscle channelopathies (nondystrophic myotonia and periodic paralysis), (iii) myotonic dystrophy (types 1 and 2), (iv) muscular dystrophies, (v) congenital myopathies and congenital dystrophies, and (vi) mitochondrial and metabolic myopathies.
    This ENMC consensus statement summarizes the most important considerations for planning and performing anaesthesia in patients with neuromuscular disorders.
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  • 文章类型: Journal Article
    背景:我们对自身免疫性神经肌肉传递(NMT)疾病的理解取得了重要进展;重症肌无力(MG),Lambert-Eaton肌无力综合征(LEMS)和神经肌强直(Isaacs综合征)。
    方法:为了制定治疗自身免疫性NMT疾病的共识指南,从MEDLINE检索的引用,考虑了EMBASE和Cochrane图书馆,并由疾病专家编写并同意了声明。
    结论:MG的管理应首先使用抗胆碱酯酶药物,但对患有MuSK抗体的患者要谨慎(良好的做法)。建议在严重病例中进行血浆置换以诱导缓解并准备手术(建议B级)。IvIg和血浆置换可有效治疗MG加重(建议A级)。对于非胸腺瘤MG患者,推荐胸腺切除术作为增加缓解或改善概率的一种选择(推荐水平B)。一旦诊断出胸腺瘤,无论MG严重程度如何,都应进行胸腺切除术(建议A级)。当需要免疫抑制药物时,口服皮质类固醇是首选药物(良好的实践要点)。当需要长期免疫抑制时,建议硫唑嘌呤允许将类固醇逐渐减少至最低剂量,同时维持硫唑嘌呤(建议水平A)。3,4-二氨基吡啶被推荐作为对症治疗,IvIG在LEMS中具有积极的短期效果(良好的实践要点)。神经肌强直患者应使用减少周围神经兴奋过度的抗癫痫药物治疗(好的做法要点)。对于副肿瘤LEMS和神经肌强直,潜在肿瘤的最佳治疗至关重要(良好的实践要点)。LEMS和神经肌强直的免疫抑制治疗应与MG相似(良好的做法)。
    BACKGROUND: Important progress has been made in our understanding of the autoimmune neuromuscular transmission (NMT) disorders; myasthenia gravis (MG), Lambert-Eaton myasthenic syndrome (LEMS) and neuromyotonia (Isaacs\' syndrome).
    METHODS: To prepare consensus guidelines for the treatment of the autoimmune NMT disorders, references retrieved from MEDLINE, EMBASE and the Cochrane Library were considered and statements prepared and agreed on by disease experts.
    CONCLUSIONS: Anticholinesterase drugs should be given first in the management of MG, but with some caution in patients with MuSK antibodies (good practice point). Plasma exchange is recommended in severe cases to induce remission and in preparation for surgery (recommendation level B). IvIg and plasma exchange are effective for the treatment of MG exacerbations (recommendation level A). For patients with non-thymomatous MG, thymectomy is recommended as an option to increase the probability of remission or improvement (recommendation level B). Once thymoma is diagnosed, thymectomy is indicated irrespective of MG severity (recommendation level A). Oral corticosteroids are first choice drugs when immunosuppressive drugs are necessary (good practice point). When long-term immunosuppression is necessary, azathioprine is recommended to allow tapering the steroids to the lowest possible dose whilst maintaining azathioprine (recommendation level A). 3,4-Diaminopyridine is recommended as symptomatic treatment and IvIG has a positive short-term effect in LEMS (good practice point). Neuromyotonia patients should be treated with an antiepileptic drug that reduces peripheral nerve hyperexcitability (good practice point). For paraneoplastic LEMS and neuromyotonia optimal treatment of the underlying tumour is essential (good practice point). Immunosuppressive treatment of LEMS and neuromyotonia should be similar to MG (good practice point).
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    文章类型: Journal Article
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  • 文章类型: Journal Article
    Important progress has been made in our understanding of the cellular and molecular processes underlying the autoimmune neuromuscular transmission (NMT) disorders; myasthenia gravis (MG), Lambert-Eaton myasthenic syndrome (LEMS) and neuromyotonia (peripheral nerve hyperexcitability; Isaacs syndrome). To prepare consensus guidelines for the treatment of the autoimmune NMT disorders. References retrieved from MEDLINE, EMBASE and the Cochrane Library were considered and statements prepared and agreed on by disease experts and a patient representative. The proposed practical treatment guidelines are agreed upon by the Task Force: (i) Anticholinesterase drugs should be the first drug to be given in the management of MG (good practice point). (ii) Plasma exchange is recommended as a short-term treatment in MG, especially in severe cases to induce remission and in preparation for surgery (level B recommendation). (iii) Intravenous immunoglobulin (IvIg) and plasma exchange are equally effective for the treatment of MG exacerbations (level A Recommendation). (iv) For patients with non-thymomatous autoimmune MG, thymectomy (TE) is recommended as an option to increase the probability of remission or improvement (level B recommendation). (v) Once thymoma is diagnosed TE is indicated irrespective of the severity of MG (level A recommendation). (vi) Oral corticosteroids is a first choice drug when immunosuppressive drugs are necessary in MG (good practice point). (vii) In patients where long-term immunosuppression is necessary, azathioprine is recommended together with steroids to allow tapering the steroids to the lowest possible dose whilst maintaining azathioprine (level A recommendation). (viii) 3,4-diaminopyridine is recommended as symptomatic treatment and IvIg has a positive short-term effect in LEMS (good practice point). (ix) All neuromyotonia patients should be treated symptomatically with an anti-epileptic drug that reduces peripheral nerve hyperexcitability (good practice point). (x) Definitive management of paraneoplastic neuromyotonia and LEMS is treatment of the underlying tumour (good practice point). (xi) For immunosuppressive treatment of LEMS and NMT it is reasonable to adopt treatment procedures by analogy with MG (good practice point).
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  • 文章类型: Journal Article
    The patellofemoral pain syndrome (PFPS) remains a challenging musculoskeletal entity encountered by clinicians. Reviewing the literature, conflicting data seem to exist regarding the effect of non-operative treatment in PFPS patients. A possible explanation may be lack of a clear classification system of patients with PFPS. It is our opinion that the term PFPS still is a \'wastebasket\', which probably comprises several different entities. Therefore, it seems important to subdivide this broad group of patients into different categories with a specific rehabilitation approach. In this study, we introduce a classification system, which reflects a consensus reached by the European Rehabilitation Panel. This classification system should help the clinicians to identify the cause(s) of patellofemoral pain, and consequently help to select the most appropriate non-operative treatment. The authors are aware that no rehabilitation protocol will work for all PFPS patients, since the underlying mosaic of pathophysiology and tissue-healing responses are unique. Therefore, the aim of this study with a classification system was to guide the clinician through clinical examination in order to develop a non-operative treatment protocol, specific for each individual with PFPS.
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