重症肌无力患者电生理检查的特点

目的分析重症肌无力(myasthenia gravis,MG)患者重复神经刺激(repetitive nerve stimulation,RNS)和针电极肌电图(needle electrode electromyography,NEMG)检查结果的特点,探求电生理检查结果对于MG诊断的临床意义。方法收集2009年²013年南京鼓楼医院神经科住院的50例MG患者的电生理资料进行分析研究。结果 50例MG患者中RNS检查结果阳性者40例(80%)。其中Ⅱ、Ⅲ和Ⅳ型阳性率较高,均超过90%;而Ⅰ型阳性率远低于其余3型,仅为40%,其差异有统计学意义(P<0.01)。对不同神经RNS结果进行分析发现,刺激腋神经、面神经和尺神经时RNS阳性率分别为:60%、58%和16%;腋神经、面神经阳性率远高于尺神经,其差异有统计学意义(P<0.01)。NEMG检查结果示,58%的患者呈肌源性损害表现,且随年龄增长,异常率升高。结论 RNS技术是诊断MG可靠的电生理方法,以面神经及近端腋神经异常率较高;MG患者容易出现肌源性损害,且与年龄有关,NEMG的使用有利于发现MG患者的肌源性损害,为临床诊断和治疗提供帮助。     

儿童重症肌无力56例重复神经电刺激检测分析

目的探讨儿童重症肌无力(MG)重复神经电刺激(RNS)特点及临床应用价值。方法应用肌电图/诱发电位仪对56例MG患儿分别进行双侧面神经、腋神经及尺神经1Hz、3Hz、5Hz、10Hz频率电刺激,观察其复合肌肉动作电位(CMAP)第4波与第1波比较的波幅降低百分比,比较患儿不同MG类型、不同神经以及面神经不同频率刺激的RNS阳性率,分析5Hz刺激面神经时各型患儿CMAP幅值衰减的变化及不同分型与幅值衰减的相关性。结果 56例MG患儿共检测270条神经,RNS总阳性率为73.21%(41/56)。Ⅰa型、Ⅰb型、Ⅱa型MG类型RNS阳性率分别为62.96%(17/27)、75.00%(12/16)、92.31%(12/13),组间两两比较差异均有统计学意义(均P0.05)。面神经、腋神经、尺神经RNS阳性率分别为73.21%(41/56)、60.87%(14/23)、8.93%(5/56),组间两两比较差异均有统计学意义(均P0.05)。1、3、5、10 Hz电刺激时面神经RNS阳性率分别为42.86%(24/56)、53.57%(30/56)、58.93%(33/56)、23.21%(13/56),组间两两比较,1Hz、3Hz、5Hz电刺激时RNS阳性率均高于10Hz电刺激时(均P0.05),3 Hz、5 Hz电刺激时RNS阳性率均高于1 Hz电刺激时(均P0.05),3Hz电刺激时与5Hz电刺激时比较RNS阳性率差异无统计学意义(P0.05)。5 Hz刺激时Ⅰa型、Ⅰb型、Ⅱa型患儿面神经RNS衰减的幅值分别为(19.14±3.27)%、(24.55±5.34)%、(52.13±10.49)%,组间两两比较差异均有统计学意义(均P0.05),并且3型患儿面神经RNS衰减的幅值与患儿分型有相关性(r=0.744,P=0.000)。结论 RNS是一项无痛无创、相对不需要患儿配合、敏感度较高的电生理检查,客观性较强且能量化观察指标;3Hz、5Hz电刺激时面神经RNS检测阳性率较高;儿童检测操作方法的改进有助于提高其阳性率。     

全身型重症肌无力的临床和电生理特点分析

目的 探讨不同亚型全身型重症肌无力(Myasthenia gravis,MG)临床和电生理特点之间的区别,并分析电生理结果与疾病严重程度的相关性。方法 回顾性分析2016年7月至2020年7月在香港大学深圳医院神经内科就诊或住院的101例全身型MG患者的临床和电生理资料,按照其临床特点,分为早发乙酰胆碱受体(Acetylcholine receptor,AchR)抗体阳性全身型MG组(52例)、晚发AchR抗体阳性全身型MG组(23例)、胸腺瘤型MG组(22例)和肌肉特异性受体酪氨酸激酶(Muscle-specific receptor tyrosine kinase,MuSK)抗体阳性型MG组(4例),比较不同亚组MG患者的人口学特点、重症肌无力评分(Quantitative Myasthenia Gravis score,QMGs)、美国重症肌无力协会(MG Foundation America,MGFA)临床分级、重复神经电刺激(Repetitive nerve stimulation,RNS)结果,分析RNS结果与QMGs之间的相关性。结果 非MuSK抗体阳性全身型MG中,早发AchR抗体阳性全身型MG女性患者所占比率最高(71. 2%vs 65. 2%vs 36. 4%,P 0. 05),胸腺瘤型MG呼吸肌/球部肌肉受累为主患者所占比率最高(28. 8%vs 43. 5%vs 63. 6%,P 0. 05),早发AchR抗体阳性全身型MG被检肌肉RNS均为阳性患者所占比率最高(44. 2%vs 17. 4%vs 22. 7%,P 0. 05),QMGs与RNS最大波幅下降比率、RNS总波幅下降比率呈明显正相关关系(P 0. 01); MuSK抗体阳性全身型MG,其中重度受累患者所占比率、呼吸肌/球部肌肉受累为主患者所占比率均较高(均为75%),而被检肌肉RNS均为阳性患者所占比率较低(0%)。结论 不同亚型全身型MG的人群分布、性别占比、主要受累肌肉、受累肌肉受累程度及分布范围均具有显著的差别,这在全身型MG的分型诊断方面具有很大的参考价值;其RNS结果与疾病严重程度具有高度相关性,提示RNS在全身型MG的病情评估方面具有重要临床价值。     

肌萎缩侧索硬化患者的重复神经电刺激特点

目的探讨肌萎缩侧索硬化(ALS)患者重复神经电刺激(RNS)特点,及其在ALS诊断和鉴别诊断中的应用价值。方法收集2008-05-2009-04在北京协和医院神经科门诊或住院确诊或拟诊的ALS患者101例,另选择同期门诊就诊的非ALS肌肉萎缩患者40例为对照。记录患者的临床资料。所有患者行肌电图和RNS检查。比较ALS患者和非ALS肌萎缩患者RNS阳性率的差异。比较ALS患者不同神经RNS阳性率及递减幅度差异,并分析性别、年龄、病程、尺神经波幅、临床疾病分级对RNS阳性率的影响。结果 (1)ALS患者和非ALS肌萎缩无力患者RNS检查低频递减阳性率分别为53.5%和7.5%,两组间比较差异有统计意义(P0.05),未出现高频递增患者。(2)所检测神经低频递减阳性率从高至低依次为腋神经(30.6%)副神经(25%)桡神经(15.5%)尺神经(7.8%)面神经(1.0%)胫神经(0%)。(3)ALS患者RNS检测低频递减阳性率与性别、年龄、病程、临床疾病分级无关(均P0.05),肢体起病者较球部起病者RNS低频递减阳性率高(P0.05)。结论 ALS患者RNS检测低频递减阳性率较非ALS肌无力萎缩患者高,RNS检测有助于ALS的诊断和鉴别诊断。ALS患者RNS检测低频递减阳性与性别、年龄、病程、临床疾病分级均无关。     

重症肌无力常规针极肌电图表现

目的 研究重症肌无力(MG)患者常规针极肌电图(EMG)表现及其诊断价值.方法 回顾性分析83例完成右侧三角肌针极EMG、腋神经低频重复电刺激(RNS)和伸指总肌单纤维肌电图(SFEMG)检查的MG患者的有关资料,分析针极EMG的表现及其与RNS的相关性.结果 83例中EMG检查结果正常12例(14.5%),异常71例(85.5%).在EMG异常者中,出现平均运动单位电位(MUAP)时限缩短67例(94.4%),多项波增多者37例(52.1%),大力收缩时募集电位呈病理干扰相19例(26.8%),异常自发电位3例(4.2%),结果符合"肌源性损害"表现19例(26.8%).腋神经RNS时三角肌波幅衰减幅度与三角肌平均MUAP时限呈负相关.结论 MG患者常规EMG检查主要异常表现为MUAP时限缩短,少数可见"肌源性损害"的EMG表现.对于临床表现不典型的MG患者应检查EMG并结合RNS和SFEMG检查进行诊断和鉴别诊断.     

RNS与SFEMG在检测ALS患者神经肌肉接头功能紊乱的比较研究

目的探讨重复神经电刺激(RNS)与单纤维肌电图(SFEMG)在检测肌萎缩侧索硬化(ALS)患者神经肌肉接头功能紊乱中的吻合率及RNS低频递减阳性率与SFEMG指标纤维密度(FD)、颤抖(jitter)、阻滞(block)的关系。方法收集2008-5—2009-4在北京协和医院神经科门诊或病房确诊或拟诊的ALS患者43例,同时行RNS及SFEMG检查。比较RNS与SFEMG在判断ALS患者神经肌肉接头紊乱的敏感性和特异性,并分析RNS低频递减与SFEMG参数指标jitter、block、FD的相关性。结果(1)43例患者中26例RNS(+),占60.5%,17例RNS(-),占39.5%。SFEMG(+)34例,占79.1%,SFEMG(-)9例,占20.9%。其中SFEMG(+)+RNS(+)者共25例,SFEMG(-)+RNS(-)者8例。RNS在判断ALS存在神经肌肉接头受累方面与SFEMG比较有一定的吻合性(Kappa=0.47,P0.01)。(2)RNS阴性和阳性组FD间比较无统计学差异(t=-0.1405,P0.05)。RNS阳性组Block程度明显高于RNS阴性组(χ~2=11.432,P0.01),jitter值也明显高于RNS阴性组(t=2.906,P0.01)。桡神经RNS波幅递减程度与jitter值呈正相关(r=0.626,P0.05)。结论 RNS与SFEMG比较有一定的吻合率。RNS检查灵敏度较高,具有操作简单,费用低,耗时短,无创,不需患者特殊配合,近远端肌肉均可操作,易于推广的特点,对ALS患者的辅助诊断具有意义。     

眼轮匝肌睑部重复电刺激在眼肌型重症肌无力诊断中的价值研究

目的探讨不同面神经支配肌尤其是眼轮匝肌睑部重复电刺激(RNS)在眼肌型重症肌无力(MG)的诊断价值。方法分析61例眼肌型MG患者,比较不同面神经支配肌RNS阳性率。结果额肌的RNS阳性率为8.47%(5/59例),眼轮匝肌睑部疲劳试验前RNS阳性率为73.77%(45/61例),疲劳试验后RNS阳性率提高至88.52%(54/61例);眼轮匝肌眶部和鼻肌的RNS阳性率分别为50.82%(31/61例)和42.62%(26/61例)。眼轮匝肌睑部RNS阳性率高于其他面神经支配肌(P=0.000~0.009),且疲劳试验后RNS阳性率高于疲劳试验前(P=0.037)。结论眼肌型MG患者眼轮匝肌睑部RNS阳性率高于其他面神经支配肌,疲劳试验可进一步提高其阳性结果 。     

老年重症肌无力的临床特点(123例临床分析)

目的 研究老年重症肌无力(MG)的临床特点。方法 回顾性分析1990-01—2002-05北京医院123例老年MG住院患者的临床特点，并与507例青壮年MG患者进行对比。结果 老年MG患者占同期MG患者的18．14％，男性患者较多(占68．29％)，眼肌首发症状多见(占80．49％)，分型以I型和Ia型多见(占56．10％)，胸腺异常主要为胸腺瘤(占老年MG患者手术病理证实伴发胸腺异常的100％)，低频重复电刺激(RNS)阳性率为74.19％，老年MG危象发生率较低(为2．44％)。结论 老年MG患者具有男性、眼肌首发症状、I型与IA型多见，以及胸腺异常主要为胸腺瘤，而RNS阳性率与MG危象发生率低等临床特点。     

50例重症肌无力患者近端神经低频重复电刺激的比较

对50例确诊为重症肥无力（MG）患者腹神经和副神经低频（3Hz、5Hz）重复电刺激（RNS）结果表明，在不同频率刺激下，所有患者腋神经的平均衰减幅度均大于副神经的平均衰减幅度，50例患者腋神经RNS均为阳性，而副神经RNS阳性者仅33例，说明应用RNS检查诊断MG时，腋神经的敏感性高于副神经。此外，对两种检查方法及其结果的可靠性进行了讨论。     

重症肌无力患者眼轮匝肌单纤维肌电图检测

目的 探讨重症肌无力患者眼轮匝肌单纤维肌电网(SFEMG)检查的临床应用价值.方法 40例重症肌无力患者(眼肌型27例,全身型13例)分别接受眼轮匝肌单纤维肌电图[以平均颤抖值>正常值上限、>10%单个肌纤维对颤抖增宽(>55μs)、伴或小伴阻滞作为异常颤抖判断标准]和面神经重复神经电刺激(RNS)检查(以复合肌肉动作电位衰减>15%作为异常动作电位判断标准),比较两种电生理学检查方法的阳性检出率、敏感性和特异性,以及SFEMG测值与重症肌无力分型之间的关系.结果 重症肌无力患者眼轮匝肌平均颤抖值为(76.42±24.59)μs,颤抖增宽电位对比例(69.01±26.66)%,阻滞电位对比例(46.62±27.41)%,与对照组比较差异具有统计学意义(均P<0.05).SFEMG阳性检出率为82.50%(33/40),高于RNS(35%,14/40),差异具有统计学意义(P<0.05).SFEMG检查敏感度分别为82.50%和77.50%,特异度均为100%;RNS检查敏感度分别为27.50%和22.00%,特异度均为0.结论 眼轮匝肌单纤维肌电图是诊断重症肌无力较为敏感的电生理学检查方法,应用于临床时尚需与其他肌肉单纤维肌电图检查、重复神经电刺激检查及乙酰胆碱受体抗体试验相结合.     

Epilepsy and anomalies of neuronal migration: MRI and clinical aspects

Neuronal migration disorders are the result of disturbed brain development. In such disorders, neurons are abnormally located. In diagnosing these conditions, magnetic resonance imaging is superior to any other imaging technique. This enables us to improve our knowledge of the clinical correlates of neuronal migration. With reference to migrational disorder, a retrospective study of all 303 patients with epileptic seizures referred for magnetic resonance imaging during a 3-year period was performed, 13 patients (aged 12-41, mean age 27) were identified. They represent 4.3% of the entire study group. Of the patients with known epilepsy, 6.7% and of the mentally retarded, 13.7% had migrational disorders. Four patients had schizencephaly as the dominant finding, one was classified as hemimegalencephaly, 2 had isolated heterotopias, and 6 had localized pachy- and/or poly-microgyria. The clinical pictures are complex. Ectopias of grey matter are recognised foci of epilepsy, but from an epileptological and a clinical viewpoint little attention has been given to these disorders. The present study shows that malmigration is not rare in epilepsy patients, especially not in the mentally retarded.     

Hepatic Considerations in the Use of Antiepileptic Drugs

Summary: Virtually all of the major antiepileptic drugs (AEDs) can cause hepatotoxicity, although fatal hepatic reactions are rare. The mechanisms, incidences, and risk profiles for such reactions differ from drug to drug. With carbamazepine and phenytoin, hepatotoxicity may be due to drug hypersensitivity. Although the profiles of patients at risk have not been well-defined for these two antiepileptic drugs, it would appear from reports in the literature that older adolescents and adults are at higher risk than children of developing serious or fatal hepatotoxicity. Once hepatotoxicity develops, mortality rates are 10–38% with phenytoin and 25% for carbamazepine. The risk profile for valproate fatal hepatotoxicity has been more clearly defined. Those at primary risk of fatal hepatic dysfunction are children under the age of 2 years who are receiving multiple anticonvulsants and also have significant medical problems in addition to severe epilepsy. The risk is considerably lower for patients over the age of 2 years on valproate monotherapy. In contrast to the risk profile with other AEDs, adults receiving valproate as monotherapy have the lowest risk of hepatotoxicity. Fatal hepatic dysfunction coincident with valproate may be the result of aberrant drug metabolism. Concomitant use of AEDs that induce microsomal P450 enzymes (e.g., phenytoin and phenobarbital) may enhance the production of a toxic metabolite, and hence the greater risk of hepatotoxicity with polypharmacy.     

Vascular Malformations and Epilepsy: Clinical Considerations and Basic Mechanisms

Summary: Vascular malformations (VMs) are associated with epilepsy. The natural history of the various VMs, clinical presentation, and tendency to provoke epilepsy determine treatment strategies. Investigations have probed the mechanisms of epileptogenesis associated with these lesions. Electrophysiologic changes are associated with epileptogenic cortex adjacent to VMs. Putative pathophysiologic mechanisms of epileptogenesis include neuronal cell loss, glial proliferation and abnormal glial physiology, altered neurotransmitter levels, free radical formation, and aberrant second messenger physiology.     

Classification of methods in transcranial Electrical Stimulation (tES) and evolving strategy from historical approaches to contemporary innovations

Transcranial Electrical Stimulation (tES) encompasses all methods of non-invasive current application to the brain used in research and clinical practice. We present the first comprehensive and technical review, explaining the evolution of tES in both terminology and dosage over the past 100 years of research to present day. Current transcranial Pulsed Current Stimulation (tPCS) approaches such as Cranial Electrotherapy Stimulation (CES) descended from Electrosleep (ES) through Cranial Electro-stimulation Therapy (CET), Transcerebral Electrotherapy (TCET), and NeuroElectric Therapy (NET) while others like Transcutaneous Cranial Electrical Stimulation (TCES) descended from Electroanesthesia (EA) through Limoge, and Interferential Stimulation. Prior to a contemporary resurgence in interest, variations of transcranial Direct Current Stimulation were explored intermittently, including Polarizing current, Galvanic Vestibular Stimulation (GVS), and Transcranial Micropolarization. The development of these approaches alongside Electroconvulsive Therapy (ECT) and pharmacological developments are considered. Both the roots and unique features of contemporary approaches such as transcranial Alternating Current Stimulation (tACS) and transcranial Random Noise Stimulation (tRNS) are discussed. Trends and incremental developments in electrode montage and waveform spanning decades are presented leading to the present day. Commercial devices, seminal conferences, and regulatory decisions are noted. We conclude with six rules on how increasing medical and technological sophistication may now be leveraged for broader success and adoption of tES.     

Carbamazepine Efficacy and Utilization in Children

Summary: Carbamazepine is effective for preventing partial and generalized tonic-clonic seizures in children. Although absence epilepsies are more common in children than adults, an estimated 80% of children with epilepsy have seizure types or epilepsies that are potentially responsive to carbamazepine. The differential diagnosis of ictal staring is an especially important issue in children because absence and atypical absence seizures are more prevalent in children than adults. Age-related pharmacokinetic differences and drug interactions are major considerations in children. On average, children have higher clearance rates of carbamazepine, shorter half-lives, and higher ratios of carbamazepine-10, 11-epoxide to carbamazepine than adults. In addition, children with severe epilepsy are more likely to require multiple-drug therapy, which can lead to complex drug interactions. When carbamazepine is administered along with valproate, drug protein binding interactions can cause intermittent side effects.     

Neonatal Seizures: Problems in Diagnosis and Classification

Summary: The clinical identification of neonatal seizures is critical for the recognition of brain dysfunction; however, diagnosis is often difficult because of the poorly organized and varied nature of these behaviors. Current classification systems are limited in their ability to communicate motor, autonomic, and electroencephalo-graphic features of seizures precisely and to provide a basis for uniform effective diagnosis, therapy, and determination of prognosis. Recent investigations of neonates, utilizing bedside electroencephalographic/polygraphic/ video monitoring techniques, have provided the basis for improved diagnosis and classification of seizures in the newborn. These studies have demonstrated that not all clinical phenomena currently considered to be seizures require electrocortical epileptiform activity for their initiation or elaboration. In addition, the specific clinical character of the phenomena considered to be seizures, the clinical state of the infant, and the character of the EEG indicate the probable pathophysiological mechanisms involved and suggest probable etiologies, prognosis, and therapy. Similarities between animal models that demonstrate reflex physiology and neonates with motor automatisms and tonic posturing suggest that these clinical behaviors may not be epileptic in origin but, rather, primitive movements of progression and posture mediated by brainstem mechanisms. Although not all clinical behaviors currently considered to be neonatal seizures may have similar pathophysiological mechanisms, they are clinically significant because they all indicate brain dysfunction.     

Valproate Monotherapy in the Management of Generalized and Partial Seizures

Summary: For decades, therapeutic tradition has promoted the concept of polypharmacy in the management of epilepsy. In recent years, however, studies have shown that, for most patients, monotherapy can provide comparable or better seizure control than administration of multiple anticonvulsants, while diminishing the potential for adverse reactions, drug interactions, and poor compliance. Valproate is an important monotherapeutic agent that is highly effective in the control of idiopathic primary and secondarily generalized epilepsies, and partial seizures that do not generalize. Comparative studies have found that valproate is at least as effective as phenytoin and carbamazepine in the treatment of generalized and partial seizures. Given the similar efficacy, other factors such as pharmacokinetics and side effects may therefore determine anticonvulsant selection for monotherapy.     

Un nouveau cadre conceptuel de travail pour la psychiatrie

In an attempt to place psychiatric thinking and the training of future psychiatrists more centrally into the context of modern biology, the author outlines the beginnings of a new intellectual framework for psychiatry that derives from current biological thinking about the relationship of mind to brain. The purpose of this framework is twofold. First, it is designed to emphasize that the professional requirements for future psychiatrists will demand a greater knowledge of the structure and functioning of the brain than is currently available in most training programs. Second, it is designed to illustrate that the unique domain which psychiatry occupies within academic medicine, the analysis of the interaction between social and biological determinants of behavior, can best be studied by also having a full understanding of the biological components of behavior.