肌萎缩侧索硬化患者可发生四肢体感诱发电位的变化

观察52例肌萎缩侧索硬化患者和30例健康人正中神经和胫后神经体感诱发电位变化,判断肌萎缩侧索硬化患者深感觉传导通路的功能状况。肌萎缩侧索硬化患者中,54%（28/52）出现体感诱发电位异常,且皆有下肢体感诱发电位异常。与健康对照者比较,近场皮质电位N20、P2、N2及中枢传导时间延长,可伴有波幅降低或者波形完全消失。表明54%肌萎缩侧索硬化患者体感诱发电位中四肢的中枢起源电位均发生明显异常,证实肌萎缩侧索硬化患者可伴有深感觉通路尤其是中枢深感觉传导障碍。     

肌萎缩侧索硬化诊断和治疗中国专家共识2022

本共识经中华医学会神经病学分会肌萎缩侧索硬化协作组专家讨论而成稿, 在前一版肌萎缩侧索硬化诊治指南的基础上, 结合近年来的诊断和治疗新进展, 进行了更新。内容包括肌萎缩侧索硬化临床表现、电生理、影像学等生物学标志物以及治疗要点。     

原发性侧索硬化2例报道及相关文献复习

目的 探讨原发性侧索硬化(PLS)的临床诊断、与经典的肌萎缩侧索硬化的关系、神经电生理特点、影像学特点及鉴别诊断.方法 分析我科收治的2例PLS患者的临床资料,并复习相关文献.结果 PLS是隐匿起病,进展缓慢的仅累及上运动神经元的神经退行性疾病,很多初诊为PLS的患者经过长期随访最后发展为肌萎缩侧索硬化,PLS的影像学表现多样,神经电生理检查容易早期发现下运动神经元损伤.结论 对于疑诊PLS的患者,明确是否具有局限性下运动神经元损伤症状十分重要,对患者进行时间的纵断随访对疾病最后的诊断和预后评估意义重大.     

肌萎缩侧索硬化26例临床分析

<正>肌萎缩侧索硬化(amyotrophic lateral sclerosis,ALS)是成年运动神经元病中最常见的形式,其发病机制不清楚,诊断仍处于临床水平,无特效治疗,存活期为3~5年,预后不良。本文对我科近几年收治的肌萎缩侧索硬化病例的临床特征进行分析如下:     

肌萎缩侧索硬化合并垂体腺瘤1例并文献复习

目的 通过1例肌萎缩侧索硬化合并垂体腺瘤病例报道并文献复习,探讨其发病的病理机制,以便找到针对病因的治疗方法.方法 分析我院收治的1例肌萎缩侧索硬化合并垂体腺瘤病例资料并查阅国内外文献.结果 肌萎缩侧索硬化发病机制可能与胰岛素样生长因子1有关.结论 肌萎缩侧索硬化的发病机制可能与胰岛素样生长因子1有关,具体发病机制需要进一步的研究.     

环境因素与肌萎缩侧索硬化相关性的研究进展

肌萎缩侧索硬化是一种常见的致死性神经系统退行性疾病，可分为家族型肌萎缩侧索硬 化和散发型肌萎缩侧索硬化。多项研究表明，许多环境和遗传风险因素共同导致了散发型肌萎缩侧索 硬化的发生。我国对遗传因素的研究处于起步阶段，且对环境因素的研究相对不足，需要进一步明确。 现将对与肌萎缩侧索硬化相关的环境风险因素的作用及机制进行综述。     

肠道菌群与肌萎缩侧索硬化相关性的研究进展

肌萎缩侧索硬化是一种病因未明而又进展迅速的致死性神经变性疾病,目前尚缺乏有效的治疗手段。最新研究表明,肠道菌群紊乱通过微生物-肠-脑轴与中枢神经系统发生直接或间接的联系,从而参与肌萎缩侧索硬化的发生发展,其机制可能涉及肠壁通透性改变、免疫功能失调及生化产物代谢等。文中综述了肠道菌群参与肌萎缩侧索硬化发生发展的潜在机制,以期为开发新的靶向治疗提供方向。     

连枷臂综合征:肌萎缩侧索硬化的临床变异型

目的 探讨连枷臂综合征的临床特点和诊断标准.方法 回顾分析172例的肌萎缩侧索硬化患者,其中14例临床特征为对称性双上肢近端显著萎缩和无力,而双下肢、球部功能保持相对完好.符合连枷臂综合征的诊断标准.对其临床特点进行统计分析.结果 依据Escorial诊断标准,14例连枷臂综合征患者均符合确诊或拟诊的肌萎缩侧索硬化.男女比例为6：1,显著高于经典肌萎缩侧索硬化组.结论 连枷臂综合征可能为肌萎缩侧索硬化的临床变异型,男性患者的显著高发提示其发病可能与男性基因异常相关.     

神经电生理学检查在肌萎缩侧索硬化诊断中的意义

肌萎缩侧索硬化(ALS)系神经系统变性疾病,临床表现以进行性运动障碍为特征,患者预后不良,多于发病后3～5年死亡.     

氧化应激在肌萎缩侧索硬化中的研究进展

肌萎缩侧索硬化是一种致命的神经退行性疾病，其特征在于脊髓、皮层和脑干运动神经 元的进行性退行性改变，导致肌肉无力、肌萎缩和痉挛。目前肌萎缩侧索硬化具体的机制不明，近年来， 氧化应激是相关研究热点。现对氧化应激机制与肌萎缩侧索硬化之间的关系进行综述。     

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.