成人型脊髓性肌萎缩症临床分析(附46例报告)

目的总结分析成人型脊髓性肌萎缩症(SMA4)的临床特征。方法收集46例经肌肉活检证实的SMA4病例进行临床资料回顾性分析。结果SMA4起病隐袭,进展缓慢,肌无力以四肢近端为主,无锥体束受累。约四分之一患者血清CPK轻度升高;EMG示神经源性损害;肌活检主要为小群性肌萎缩,ATP酶染色见同型肌群化及肌纤维代偿性肥大。结论SMA4是病变影响下运动神经元的一组独立性疾病,并非为肌萎缩侧索硬化的某一发展阶段。预后相对良好。     

成人型脊髓性肌萎缩症的骨骼肌病理学研究

目的:总结成人型脊髓性肌萎缩症(SMA4)骨骼肌病理学特征。方法:对46例临床符合SMA4诊断标准的病例进行肌活检及病理学分析。结果:SMA4肌活检主要为小群性肌萎缩,ATP酶染色见同型肌群化及肌纤维代偿性肥大。结论:肌活检对诊断SMA4具有诊断和鉴别诊断意义。     

神经原性肌萎缩的肌肉组织病理定量研究

本文对32例神经原性肌萎缩病人的角纤维、同型肌群化、纤维类型比例、肌纤维大小及形状因子变异程度等肌活检病理改变进行了研究。结果提示:Ⅰ型纤维比例和同型肌群化程度较高是少年型脊髓性肌萎缩(SMA Ⅲ)和成人型脊髓性肌萎缩(SMA Ⅳ)的特征性改变,与肌萎缩侧索硬化(ALS)、进行性肌萎缩(PMA)相比,SMA病人有较低的失神经支配和较高的神经再支配能力;角纤维的比例与病程呈负相关,同型肌群化程度与病程呈正相关。     

不典型SMA Ⅳ 1例报告

<正>成年型脊髓性肌萎缩(SMAⅣ),又称成年慢性近端肌萎缩症,约占近端型肌萎缩的15.2%。临床特点:(1)多为常染色体显性遗传,偶有常染色体隐性遗传;(2)起病年龄多为17~30岁,起病和进展较隐袭,但亦可进行性加重或相对静止;(3)早期可出现病理性肌痉挛,可先于肌无力出现;(4)主要症状为缓慢发生的进行性上下肢近端肌无力及肌萎缩,有肌束震颤;(5)40岁以后起病者,可自肢体近端扩展至肢体     

成人型脊髓性肌萎缩症临床及遗传学研究

目的总结成人型脊髓性肌萎缩症(SMA,Ⅳ)的临床及遗传学特征。方法收集46例经肌肉活检证实的SMAⅣ进行临床和病理学分析,并对其中3个家系进行遗传学分析。结果SMAⅣ平均发病年龄38.7岁,起病与进展隐匿,预后相对良好,以四肢近端肌萎缩无力为主,肌电图(EMG)检查示神经源性损害,肌活检示小群性肌萎缩,其中2个家系分别为常染色体显性遗传、X-连锁隐性遗传。结论依据临床表现、肌肉病理可确诊SMAⅣ。     

成人型近端脊髓性肌萎缩症的临床和肌肉病理学研究

目的 总结成人型近端脊髓性肌萎缩症(ASMA)临床和肌肉病理学特征，以提高对ASMA的认识。方法 对27例完成肌肉活检的ASMA患者进行临床及肌肉病理学分析。结果 该病多于45岁左右发病，起病及进展均缓慢，主要表现为近端肌肉无力、肌肉萎缩、肌束震颤，锥体束和周围神经一般不受累。4例患者肌酶增高。所有患者肌电图检查示神经源性损害，其中2例伴肌源性改变。肌肉活检光镜下见神经源性肌萎缩，其中3例伴肌源性损害。电镜下见肌原纤维数量减少、排列紊乱、部分断裂，Z线变粗或呈波浪样以及肌核聚集。结论 结合临床表现进行肌肉活检对ASMA诊断及鉴别诊断具有重要价值。     

4例婴儿型脊肌萎缩症家系临床病理分析

目的：分析4例阳性家庭史的婴儿型脊肌萎缩症患儿临床病理表现，探讨本病的临床病理特点及早期诊断要点。方法：回顾分析4例经病理学检查证实的婴儿型脊肌萎缩症患儿的临床资料及病理学改变。结果：患儿多在1岁内起病，呈进行性弛缓性对称性四肢瘫痪，以下肢、近端明显，血清CPK、LDH正常。肌电图为失神经性支配。肌活检呈神经性肌萎缩，常累及整个肌束。本组患儿3例死亡，1例瘫痪。结论：确诊本病应结合临床特点，肌电图表现及神经肌肉活检改变等，这些在鉴别诊断中有重要价值，为进一步基因检测研究奠定了基础。     

良性单侧下肢萎缩的临床特点

目的探讨良性单侧下肢萎缩(BMALL)的临床特点。方法回顾分析3例BMALL患者的临床资料。结果 3例患者均为男性,慢性起病,以单侧下肢肌萎缩为主症,肌无力程度轻;血清肌酶水平均正常;肌电图示2例为神经源性损害,1例未见异常;腰椎影像学示3例L3～4、L4～5椎间盘轻度突出。肌肉病理学检查示3例患者均出现肌纤维大小不等和小角化纤维,极小纤维和核内移纤维各2例,同型纤维明显群组化1例。结论 BMALL临床特征为单侧下肢萎缩,神经电生理及肌肉病理学均表现为神经源性损害。     

伴有破碎红纤维的包涵体肌炎的临床及病理学特点(附1例报告)

目的 探讨伴有破碎红纤维的包涵体肌炎的临床及病理学特点.方法 回顾性分析1例伴有破碎红纤维的包涵体肌炎患者的临床资料.结果 本例为中年男性,四肢近端进行性肌萎缩,血清肌酶轻度增高,肌电图示肌源性损害.肌活检示部分萎缩的肌纤维出现镶边空泡,空泡内含有嗜碱性颗粒,部分坏死肌纤维有吞噬细胞及炎症细胞浸润,改良Gomori染色见破碎红纤维,细胞色素酶染色见蓝纤维;泛素染色示肌纤维中有泛素阳性物质沉积.mtDNA突变分析未见线粒体DNA突变.结论 伴有破碎红纤维的包涵体肌炎以近端肌肉受损为著,病理表现除包涵体和炎症性改变外,还存在代谢紊乱和异常折叠的蛋白沉积的特征.     

肌原纤维肌病的临床与病理学特征(附1例报告)

目的研究肌原纤维肌病的临床与病理学特征。方法回顾性分析1例肌原纤维肌病患者的临床和病理学资料。结果本例患者中年起病,表现为进行性四肢近端肌无力,有轻度肌萎缩。肌电图示:双下肢神经源性损害。病理检查示:大量肌纤维内含有胞浆体,偶见镶边空泡,含有胞浆体的肌纤维内,出现肌原纤维网结构紊乱及结蛋白异常沉积。结论肌原纤维肌病在临床表现上缺乏特异性,肌纤维内肌原纤维网结构紊乱,出现大量胞浆体及结蛋白异常沉积是其特征性病理改变。     

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.     

Special Pharmacokinetic Considerations in Children

Summary: Pediatric patients have greater degrees of pharmacokinetic variability and unpredictability than adults. This variability results from the effects of pharmacogenetics, age and growth, prior and current comedication, and disease. Newborns with seizures have the least predictable dosage requirements, and their needs change as drug-eliminating mechanisms mature in the neonatal period. Infants have the highest relative capacities to eliminate antiepileptics of any age group and require the largest relative doses. In addition to age-related trends, children demonstrate the same drug-specific, pharmacokinetic phenomena that adults do, including nonlinear phenytoin elimination, nonlinear valproate binding, and autoinduction of carbamazepine. Intercurrent illness and drug interactions further modify the age-related pharmacokinetic patterns in children and make dosage requirements even more unpredictable. Recent studies have shown that febrile illness can affect drug elimination, sometimes decreasing drug levels by 50% or more. Intermittent treatment with benzodiazepines administered either orally or rectally can be an important adjunct and help minimize this type of problem for children with marginally controlled epilepsy. Intermittent benzodiazepines are also helpful for children who have febrile seizures and who need only occasional antiepileptic protection.