脂质沉积性肌病临床病理特征及疗效分析

目的 探讨脂质沉积性肌病(LSM)的临床表现、病理特征及治疗反应。方法 回顾性分析22例脂质沉积性肌病患者的临床资料和预后随访。结果 患者主要临床特点均为四肢近端肌无力和运动不耐受; 20例血清肌酶不同程度升高; 18例肌电图呈肌源性损害; 22例肌肉病理显示肌纤维内脂滴增多。20例患者有治疗后的随访资料,其中小剂量泼尼松治疗19例,核黄素(维生素B2)治疗18例,左卡尼丁治疗6例,全部患者1个月内肌无力症状均获明显改善,经3个月治疗后,18/22例治愈,2例出现复发,重复治疗仍有效。结论 LSM是可治愈性疾病,建议避免发热、劳累等诱因,无基因测定的条件下,可经验性用核黄素、左卡尼丁和泼尼松治疗,有基因测定条件,应根据基因突变进行针对性治疗。     

脂质沉积性肌病30例临床资料分析

目的总结脂质沉积性肌病(LSM)的临床特点。方法总结30例LSM患者的临床资料并复习文献。结果LSM是脂肪酸代谢异常所致,90.0%以上患者有发作性近端肌无力,不耐受疲劳;73.3%有眼肌、颈肌受累;46.7%有消化道症状。60.0%～86.7%的患者肌酶升高;83.3%有肌电图异常,其中77.0%为肌源性损害;93.1%有脂质沉积;可有血浆肉毒碱降低。泼尼松或能量支持治疗有效率为95.2%。结论LSM是肌无力原因之一,可多系统受累或与其他代谢异常共存,多数预后较好。     

中国人核黄素反应性脂质沉积性肌病多是由 ETFDH基因突变所致

通过对一组中国脂质沉积性肌病(lipid storage myopathy,LSM)患者的研究来探讨该病的遗传代谢特征及其分子病理机制,这些LSM患者单用核黄素(维生素B2)治疗后肌无力症状明显改善(即核黄素反应性LSM).该论文于2009年9月15日由Journal of Neurology,Neurosurgery,and Psychiatry在线出版,并于2010年发表于该杂志上[1].     

核黄素反应性脂质沉积性肌病两家系临床分析

目的探讨由ETFDH基因突变引起的核黄素反应性脂质沉积性肌病(Lipid storage myopathy,LSM)的临床特点以及核黄素的治疗效果。方法通过肌肉磁共振(MRI)、肌肉活检及基因检测确诊两家系3例LSM患者,并评估给予核黄素治疗前后患者运动症状的变化。结果 2例左侧三角肌肌肉MRI与肌肉活检提示肌肉脂质沉积,基因检测揭示1例存在ETFDH基因c.1395dupT(p.G466Wfs*24)和c.770AG(p.Y257C)复合杂合突变,2例存在ETFDH基因c.770AG(p.Y257C)纯合突变,3例经核黄素治疗1个月后运动症状均得到显著改善。结论对于无明显诱因引起的双下肢无力患者,可通过肌肉活检和基因检测进行确诊,且核黄素能够有效改善运动症状。     

脑干海绵状血管瘤手术治疗13例临床分析

目的 探讨脑干海绵状血管瘤的手术方法、技巧和效果.方法 回顾性分析13例脑干海绵状血管瘤患者的临床表现、手术方式、治疗效果及随访资料.结果 全部病灶均于显微镜下全切,术中运用神经电生理监测,无手术死亡.术后病理学检查证实海绵状血管瘤.8例患者术后神经功能障碍得到改善,2例无变化,3例症状加重.术后随访6-24个月,13例患者复查均无复发,其中8例恢复正常生活,2例生活基本自理,3例偏瘫.结论 脑干海绵状血管瘤采用显微外科技术切除,效果良好.     

Pipeline血流导向装置治疗复发颅内动脉瘤的临床效果分析

目的探讨Pipeline血流导向装置(PED)治疗复发颅内动脉瘤的疗效。方法回顾性分析2016年1月至2019年4月于首都医科大学附属北京天坛医院神经介入中心采用PED治疗的14例复发颅内动脉瘤患者的临床资料。14例患者中,仅行PED治疗10例,PED联合弹簧圈治疗4例。所有患者均行临床随访,采用改良Rankin量表评分(mRS)评估患者的预后;行影像学随访[数字减影血管造影(DSA)]评估颅内动脉瘤的栓塞情况。结果14例患者共成功置入15枚PED。所有PED均到位良好。术后即刻DSA检查显示动脉瘤内血流滞留,载瘤动脉的分支血管均通畅;Dyna CT检查显示支架均准确覆盖瘤颈,贴壁良好。术后2例患者出现手术并发症,其中1例为脑梗死,经抗血小板聚集等对症治疗后症状改善;另1例发生中脑出血后死亡。除死亡患者外,余13例患者均获临床随访,中位随访时间为26个月(范围为12~48个月),无一例发生脑出血或脑梗死,无新发神经功能缺损症状,末次随访mRS均为0分。11例患者行影像学随访,中位随访时间为6个月(范围为3~16个月),其中完全栓塞8例(包括1例单纯弹簧圈栓塞术后复发、3例开颅夹闭术后复发、3例支架辅助弹簧圈栓塞术后复发以及1例单纯支架置入术后复发的患者),瘤颈残余2例(均为支架辅助弹簧圈栓塞术后复发的患者),瘤体部分显影1例(为支架辅助弹簧圈栓塞术后复发的患者)。结论应用PED进行再治疗的单纯弹簧圈栓塞或开颅夹闭术后复发的动脉瘤患者预后良好,而PED治疗曾行支架置入术的复发动脉瘤的效果仍需进一步验证。     

显微神经外科手术治疗原发性三叉神经痛的远期疗效

目的探讨显微手术治疗原发性三叉神经痛患者的远期疗效。方法回顾性分析2006年1月至2011年10月手术治疗的40例原发性三叉神经痛患者的临床资料。术后1年根据疼痛症状缓解程度及并发症发生情况进行评价手术远期疗效。结果全部病例均得到1年以上随访，疼痛完全缓解且无并发症28例，疼痛完全缓解伴能耐受的并发症8例，疼痛不完全缓解但无并发症2例，疼痛不完全缓解伴轻度并发症1例，疼痛不完全缓解伴重度并发症1例。其中行微血管减压术的患者32例中，术后疼痛均立即消失，随访期间有2例复发。行三叉神经感觉根部分切断术者8例，术后患者疼痛均消失，随访期间无复发，出现轻度面瘫及一侧舌麻木感患者共有6例，并发严重肺部感染导致呼吸功能衰竭的患者1例。结论影响显微手术治疗原发性三叉神经痛远期疗效因素是多方面的，显微手术治疗原发性三叉神经痛效果良好；根据症状缓解程度和并发症评价手术疗效是一种很好的评估方法。     

复发性抗富亮氨酸胶质瘤失活1蛋白脑炎临床分析

目的分析复发性抗富亮氨酸胶质瘤失活1蛋白(LGI1)脑炎的临床特点、诊断、治疗及预后情况。方法收集郑州大学第一附属医院2015-01—2019-01确诊抗LGI1脑炎患者,回顾性分析复发患者临床表现、实验室及影像检查、治疗及预后。结果 37例抗LGI1脑炎确诊患者中,13例复发,6例有多次复发。4例复发期出现新的症状,9例复发症状为首次发病症状的再次出现。认知功能下降、癫痫、精神症状及自主神经症状为复发患者首次发病和复发常见症状。13例复发患者有10例接受序惯口服激素治疗,第1次复发前口服激素平均时间为2.25个月。13例患者死亡6例。10例患者首次复发重启免疫治疗。预后良好(mRS≤2分)患者复发至重启免疫治疗平均时间2.6 d,预后差患者33.5 d。结论抗LGI1脑炎复发比较常见,患者复发症状多为首次发病症状的再次出现。及时重启免疫治疗的复发患者,预后良好。     

核黄素反应性脂质沉积性肌病二例

目的探讨核黄素反应性脂质沉积性肌病(LSM)的临床、病理及基因突变特征。方法分析两例核黄素反应性LSM患者的临床资料。结果本组两例患者表现为慢性起病的四肢和躯干肌无力,不能耐受疲劳,例2累及吞咽功能,例1累及咀嚼功能。两例肌肉活检发现肌纤维内大量脂肪沉积,未见肌纤维坏死和再生,改良Gomori三色染色、琥珀酸脱氢酶染色未发现线粒体酶活性缺失。两例患者均有2个以上位点突变,有明确临床意义的突变均为ETFDH外显子改变,应用核黄素治疗后两例明显好转。结论本病多累及躯干和四肢肌,表现为肌无力和疲劳不耐受;病理特征为肌肉脂肪沉积,基因突变多为ETFDH改变。核黄素单一治疗对本病有显著疗效。     

自发性低颅压综合征23例患者临床特点、影像学表现、预后及随访观察

目的探讨自发性低颅压综合征(SIH)患者的发病机制、临床特点、影像学表现和预后转归。方法回顾性分析中国医科大学附属盛京医院2012至2018年收治的23例SIH患者的临床表现及影像学特点,进行了历时3年的随访了解其预后和转归。结果所有SIH患者均表现为体位性头痛。16例患者脑脊液压力≤60 mmH_2O,6例脑脊液量少无法测量压力,1例脑脊液压力为80 mmH_2O。经头颅MRI平扫及增强检查,有13例患者影像学检查提示异常,包括硬脑膜增厚强化、硬膜下积液、颅内静脉窦增宽、小脑扁桃体下移、垂体饱满。所有患者经保守对症治疗后症状好转。每间隔1年对患者进行电话随访,共随访3年,其中9例患者失访,1例患者复发,余13例预后良好未复发。结论 SIH诊断应结合其临床症状、腰穿脑脊液压力检测结果和影像学异常表现,避免误诊延误治疗时机,多数患者预后良好。     

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.     

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.     

Clobazam for Treatment of Intractable Epilepsy: A Critical Assessment

Summary: Clobazam (CLB), a 1,5-benzodiazepine, is a remarkably effective add-on drug for individual patients with refractory partial epilepsy. CLB has an excellent safety record. As with all benzodiazepines used for treating epilepsy, sedation and withdrawal effects, together with the development of tolerance, limit its usefulness. Recent efforts to prevent or reverse tolerance with intermittent administration of CLB or periodic injection of a benzodiazepine antagonist, flumazenil, are encouraging and justify further investigations.     

La passion de Torquemada et le terrorisme islamique : quelques points de comparaison

This original research compares the doctrinal, psychopathological and operational standpoints of the 15th century Spanish Inquisition (Torquemada) with those of radical Islamism from 1988 to 2005 (Al-Qaeda). The following are reviewed: (a) the main texts codifying the procedure for conducting the criminal investigation of a Holy Office trial (Directorium inquisitorum); (b) the life and work of the grand inquisitor Tomás de Torquemada (1420–1498); (c) the psychopathological relations between passion (passionate psychoses, passionate idealism, paranoid personality) and fanaticism; (d) “the madmen, the enlightened and the criminals” of Islamic terrorism; (e) the cognitive and emotional motives for engagement in the jihadist radicalization of young people; (f) the common principles of monotheistic fanaticism (Inquisition, Al-Qaeda) and the particular dogmas of Islamic terrorism in our time; (g) the operating modes of the Inquisition and the Jihadist holy war. The author concludes that the rigour and seriousness of the inquisitorial judicial procedure, which was precise, individual and personalized, contrasts with the revolutionary pamphlets of Al-Qaeda, which only provide broad guidelines for the modus operandi of the fight against infidels, who are usually random victims.     

Claustration et collectionnisme : réflexions à propos d’un cas de syndrome de Diogène avec vols kleptomaniaques et vengeurs

Social withdrawal is a pathognomonic behaviour that is consistently associated with mental illnesses. Compulsive hoarding can also be interpreted as a pathological behaviour, even when it does not involve kleptomania. Diogenes syndrome (DS) was first described in 1975, and is characterized by both behaviours - social withdrawal and compulsive hoarding. Even though it is often the manifestation of a psychiatric condition, its aetiology is diverse. The most frequent ones are however: dementia, schizophrenia and mental retardation. In this study, we describe an atypical case presenting with DS. Il consists of a young man, seen in a forensic setting, who had been diagnosed with kleptomania in the past, presents with compulsive hoarding, and whose recent thefts were fuelled by revenge. Finally, to our knowledge, the way social withdrawal is viewed is seldom taken into account. We analyse its implication on social withdrawal.     

Neurological soft signs and schizophrenia: a review of current knowledge

Schizophrenia is a frequent and disabling disorder emerging during adolescence or early adulthood. The identification of underlying processes has been hampered by the complex clinical expression and the probable etiological heterogeneity. The frequency of neurological soft signs (NSS) in patients with schizophrenia and their presence early in life (during the first two years) in high risk subjects support the hypothesis that schizophrenia is a "brain disease" reflecting pre- or perinatal insults during development. The growing interest for NSS has lead to multiple studies that are often difficult to compare. The objective of this review is to summarize the current knowledge on NSS, methodological issues and the future perspectives.     

Lacan, lecteur de Minkowski : l'approche structurale

The notion of structure occupies a predominant place in the theory of Lacan. He indicates that was developed from the work of Minkowski. In fact, through his phenomeno-structural approach, Minkowski does not limit himself to purely observable phenomena, but attempts to determine the underlying structure. He refers to the comprehensive phenomenology and psychopathology, and this method provides him with clinical finesse and another means of determining a diagnosis. Thus Lacan has used this as a basis for his approach to structure to develop a theory regarding the individual. This implies that the structure of the individual is based on his relation to language. From this concept, he then develops the clinical structures of neurosis, psychosis, and perversion. These structural landmarks also have an effect on the course of treatment.