肝豆状核变性误诊与治疗：（附60例报告）

肝豆状核变性(HLD)是常染色体隐性遗传病,若能早期发现及时治疗,症状可望改善。但本病误诊率很高,国内统计最长误诊达15年。我科自1985～1993年共诊治60例,早期误诊17例,误诊率为28.3％。 误诊病例:脑型误诊帕金森病,小舞蹈病,小脑性共济失调各2例。精神障碍型误诊精神分裂症5例,神经衰弱2例。肝型误诊肝硬化,肝炎各2例。 误诊原因分析:1.本病临床表现复杂多变,首发症状及临床表现不一。陈氏报告HLD92例,锥体外系症     

特发性甲状旁腺功能减退症1例报道及文献回顾分析

目的提高对以神经、精神障碍为临床表现的特发性甲状旁腺功能减退症(IPH)的认识。方法报道1例IPH误诊病例,结合对国内近20年发表的IPH及其误诊的相关文献进行回顾性分析。结果 1994年1月至2013年12月国内文献汇总:1IPH误诊率29.51%;2被误诊病种超过30种,其中癫占误诊病例总数的59.47%,其次为低钙血症及精神心理障碍;3误诊原因分析:医生对IPH临床特点认识不足(71.43%)、神经与精神症状突出(61.90%)和忽略对辅助检查结果的分析(57.14%)。结论 IPH常以神经、精神障碍为突出临床表现,易误诊;临床应提高对IPH的认识,重视高危人群筛选,降低误诊率。     

18例颅内静脉窦血栓形成误诊分析

目的对18例颅内静脉窦血栓(CVST)形成患者临床资料、误诊原因进行分析,减少误诊率。方法回顾分析18例被误诊的CVST患者的临床特点、误诊原因。结果 18例CVST患者以年轻人为主,发病初期分别误诊为:中枢神经系统感染5例、病毒性脑膜炎3例、病毒性脑炎1例、病毒性脑膜脑炎1例、脑出血2例、偏头痛2例、脑梗死和出血性脑梗死2例、蛛网膜下腔出血1例、脑梗死合并蛛网膜下腔出血1例。平均误诊时间7 d(1~30 d)。CVST以上矢状窦、横窦、乙状窦最为常见,绝大多数病因不明。结论 CVST临床表现复杂多样,误诊率极高。针对年轻、产褥期妇女、突发进行性加重或不典型头痛,或既往头痛性质如头痛频率、部位、程度发生变化时都要排查CVST。应重视腰穿和脑脊液测压检查,发现头痛伴颅内压增高时需行头颅MRV或DSA检查尽早明确诊断,减少CVST误诊和漏诊。     

主动脉夹层18例误诊分析

目的 分析主动脉夹层的误诊情况以提高对该病的认识。方法 选取3l例主动脉夹层中18例误诊病例的相关资料，对临床表现、确诊方法及误诊情况进行回顾性分析。结果 误诊疾病为急性脑血管病、急性心梗、大动脉炎、急腹症、急性肾衰、下肢动脉栓塞、急性胰腺炎、肾性高血压等．总误诊率58％。结论 主动脉夹层病情复杂、进展迅速、误诊率高、预后差。临床医生，特别是非心血管医生应提高对此病的认识，以期早诊断、早治疗。     

重症肌无力误诊分析

重症肌无力(myasthenia gravis,MG)是神经-肌肉接头传递功能障碍的获得性自身免疫性疾病,主要由于神经-肌肉接头突触后膜上乙酰胆碱受体受损引起.该病临床症状复杂,易造成误诊,若出现危象可危及患者生命.我院2004～2008年门诊及病区共诊治80例NG病例,其中原先误诊24例,误诊率30%,现对其误诊进行归纳分析.     

肝豆状核变性167例误诊分析

肝豆状核变性临床表现复杂多样,误诊病例屡有发生。本文对167例误诊病例分析如下: 临床资料一、一般资料:本文收集我院和文献报道的有误诊记载的肝豆状核变性273例,男157例,女116例,男女之比为1.35:1。发病年龄2～62岁,在年龄记载完整的211例中,10岁以下37例(17.5％),11～15岁73例(34.6％),16～20岁34例(16.1％),21～25岁40例(19％),26～30岁13例(6.2％),31岁以上14例(6.6％),15岁以前占半数以上(52.1％)。二、误诊的疾病:本组273例,误诊167例,误诊率61.2％。误诊病种达34种以上,累及消化、神经精神、血液、运动、泌尿、内分泌、寄生虫、免疫和代谢等多个系统。     

不典型蛛网膜下腔出血21例误诊分析

蛛网膜下腔出血(SAH)是神经内科的常见病，但不典型病例误诊率高，现将本院自1991年以来误诊的21例报道如下。     

山西省165例运动神经元病临床特征及误诊分析

目的研究运动神经元病(MND)的临床特征及误诊分析。方法回顾性分析165例MND患者的一般资料、临床症状、误诊、肌电图、辅助检查等,进行统计分析。结果入组患者165例:ALS 122例(73.9%),其中确诊ALS 101例,临床或电生理拟诊ALS 21例;PMA 26例(15.8%);PBP 15例(9.1%);PLS 2例(1.2%)。男女比例为1.84∶1。MND患者发病年龄为20~80岁,平均发病为52.15±10.41岁,男女发病高峰均为50~59岁,二者差异没有统计学意义(P0.05)。山西省MND误诊率为42.42%(70/165),误诊为脑血管病的35.7%(25/70),误诊于基层医院77.1%(54/70)。结论 MND发病男性多于女性,山西省男性患病比例较国内相关报道高,发病年龄集中在50~59岁;分型中ALS是最常见的类型;MND误诊率高,脑血管病误诊居首位,误诊多发生在基层医院;影像学及电生理检查对MND的诊断有重大意义,临床上应积极完善相关辅助检查。     

肌萎缩侧索硬化症的院前误诊分析

目的 回顾分析115例肌萎缩侧索硬化症患者院前误诊情况，加深对该病临床特点的认识，减少误诊，实现尽早诊断和尽早治疗，方法收集北京大学第三医院2003年1月-2005年3月全部诊断为运动神经元病住院患行的临床资料，按照肌萎缩侧索硬化症的诊断标准（修订版）对所有患者进行严格诊断，将其中“确诊为肌萎缩侧索硬化症”和“很可能肌萎缩侧索硬化症”（包括很可能和实验室支持的很可能）115例患者作为观察对象。结果 115例患者中符合“确诊”标准者74例，“很可能”标准41例；平均诊断间期为14．80个月，平均误诊间期6．40个月。其中误诊者72例，未误诊28例，余15例为我院首诊患者，无一例误诊，院前误诊率为72．00％（72／100）。“确诊”和“很可能”患者的误诊率分别为72．31％和71．43％，二者相比差异显著件意义（P〉0．05）：症状首发部位分别为球部合并上肢（5例）、单侧上肢（49例）、单侧下肢（15例）以及偏侧上下肢者（2例），共71例，其误诊率达80．28％（57／71）。在误诊病种中，以颈椎病最为多见，其次为脑血管疾病：北京市与外埠患者的误诊率分别为50．00％（13／26）和79．73％（59／74），二者相比差异具有显著性意义（P〈0．05）。80％以上误诊发生于基层医院，最终明确诊断局限于教学医院。结论 引起肌萎缩侧索硬化症误诊的原因除疾病本身具有临床较少见的特点外，医生对其认识不足亦是发生误诊的重要因素之一，故提高医生对该病的了解并加强专业修养，是降低肌萎缩侧索硬化症误诊率的有效方法和必要手段。     

精神科住院患者误诊85例分析

目的探讨精神科住院患者误诊的原因。方法分为误诊组和确诊组，用自行设计的调查表收集两组病例的一般资料及诊断资料，并通过统计学分析筛选出造成误诊的危险因素。结果t检验及x^2检验结果显示两组病例在住院次数、病史收集详细程度、临床检查全面程度、重视纵向病程特点方面均存在显著性差异（P〈0．05）；Logistic回归分析结果显示。临床检查不够全面深入是造成误诊的危险因素，住院次数是误诊的保护因素。结论对精神科住院惠者应全面收集病史、全面深入地进行,临床检查、诊断时重视病程特点以及对出院患者应加强跟踪随访，这样才可以减少误诊率。     

Environmental factors in the development and progression of late-onset Alzheimer＇s disease

Late-onset Alzheimer＇s disease （LOAD） is an age-related neurodegenerative disorder characterized by gradual loss of synapses and neurons, but its pathogenesis remains to be clarified. Neurons live in an environment constituted by neurons themselves and glial cells. In this review, we propose that the neuronal degeneration in the AD brain is partially caused by diverse environmental factors. We first discuss various environmental stresses and the corresponding responses at different levels. Then we propose some mechanisms underlying the specific pathological changes, in particular, hypothalamic-pituitary adrenal axis dysfunction at the systemic level; cerebrovascular dysfunction, metal toxicity, glial activation, and Aβ toxicity at the intercellular level; and kinase-phosphatase imbalance and epigenetic modification at the intracellular level. Finally, we discuss the possibility of developing new strategies for the prevention and treatment of LOAD from the perspective of environmental stress. We conclude that environmental factors play a significant role in the development of LOAD through multiple pathological mechanisms.     

Disrupted structural and functional brain connectomes in mild cognitive impairment and Alzheimer＇s disease

Alzheimer＇s disease （AD） is the most common type of dementia, comprising an estimated 60-80% of all dementia cases. It is clinically characterized by impairments of memory and other cognitive functions. Previous studies have demonstrated that these impairments are associated with abnormal structural and functional connections among brain regions, leading to a disconnection concept of AD. With the advent of a combination of non-invasive neuroimaging （structural magnetic resonance imaging （MRI）, diffusion MRI, and functional MRI） and neurophysiological techniques （electroencephalography and magnetoencephaJography） with graph theoretical analysis, recent studies have shown that patients with AD and mild cognitive impairment （MCI）, the prodromal stage of AD, exhibit disrupted topological organization in large-scale brain networks （i.e., connectomics） and that this disruption is significantly correlated with the decline of cognitive functions. In this review, we summarize the recent progress of brain connectomics in AD and MCI, focusing on the changes in the topological organization of large-scale structural and functional brain networks using graph theoretical approaches. Based on the two different perspectives of information segregation and integration, the literature reviewed here suggests that AD and MCI are associated with disrupted segregation and integration in brain networks. Thus, these connectomics studies open up a new window for understanding the pathophysiological mechanisms of AD and demonstrate the potential to uncover imaging biomarkers for clinical diagnosis and treatment evaluation for this disease.     

Edema and neuronal apoptosis in the hippocampus and cortex of elderly rats following transient cerebral ischemia/reperfusion injury

BACKGROUND： Previous studies of cerebral ischemia have used young animals, with an ischemic time greater than 5 minutes （safe time limit）. Despite an increased understanding of neuronal apoptosis, it remains uncertain whether brief cerebral ischemic events of 5 minutes or less damage brain tissue in elderly rodents. OBJECTIVE： To investigate the effects of transient cerebral ischemia （5 minutes）/reperfusion injury on brain cortical and hippocampal edema, aquaporin-4 （AQP-4） expression, and neuronal apoptosis in aged rats, and to compare ischemic sensitivity between cortex and hippocampus. DESIGN, TIME AND SETTING： A randomized, controlled, animal experiment was performed at the Institute of Cerebrovascular Disease, Qingdao University Medical School from April 2008 to March 2009. MATERIALS： Rabbit anti-AQP-4 polyclonal antibody, TUNEL kit, and SABC immunohistochemistry kit were purchased from Wuhan Boster Bioengineering, China. METHODS： A total of 160 healthy, male, aged 19-21 months, Wistar rats were randomly assigned to 4 groups： sham-surgery, and ischemia 1-, 3-, and 5-minute groups, with 40 rats in each group. The global cerebral ischemia model was established using the Pusinelli four-vessel occlusion, and the three cerebral ischemia groups were subdivided into reperfusion 12-hour, 1-, 2-, 3-, and 7-day subgroups, with 8 rats in each subgroup. The sham-surgery group was subjected to exposure of the first cervical bilateral alar foramina and bilateral common carotid arteries. MAIN OUTCOME MEASURES： The dry-wet weight assay was used to measure brain water content and histopathology of the cortex and hippocampus was observed following hematoxylin-eosin staining. In addition, cortical and hippocampal AQP-4 expression was detected by streptavidin-biotin complex immunohistochemistry, and neuronal apoptosis was detected by the TUNEL method. RESULTS： There was no significant difference in brain water content or AQP-4 expression in the cortex and hippocampus between ischemia 1- and 3-minute groups and the sham-surgery group or brain water content or AQP-4 expression in the cortex between ischemia 5-minute group and sham-surgery group （P 〉 0.05）. However, brain water content and AQP-4 expression in the hippocampus after 5 minutes of cerebral ischemia were significantly increased compared with the sham-surgery group （P 〈 0.05 or P 〈 0.01）. Several TUNEL-positive cells were observed in the cortex and hippocampus of the sham-surgery group and ischemia 1-minute group, as well as in the cortex of the ischemia 3-minute group. In addition, the number of apoptotic neurons in the hippocampus of ischemia 3-minute group and in the cortex and hippocampus of ischemia 5-minute group was significantly increased （P 〈 0.05 or P 〈 0.01 ）. Neuronal apoptosis was increased after 12 hours of ischemia/reperfusion, and it reached a peak by 2 days （P 〈 0.01）. CONCLUSION： Transient cerebral ischemia （5 minutes） resulted in increased hippocampal edema, AQP-4 expression, and neuronal apoptosis. Moreover, cerebral ischemia had a greater effect on neuronal apoptosis than brain edema or AQP-4 expression, and the hippocampus was more sensitive than the cortex.     

雷公藤内酯对癫痫大鼠神经元P13K／Akt／mTOR蛋白的影响

目的通过检测癫痫大鼠海马神经元P13K、Akt和mTOR蛋白表达,探讨雷公藤内酯抑制癫痫大鼠神经元凋亡的分子机制。方法30只大鼠随机分为对照组、海人酸组、雷公藤内酯干预组,免疫组化法检测各组大鼠海马神经元P13K、Akt和mTOR蛋白的表达情况。结果海人酸组神经元胞体皱缩,形态不规则,数量减少,而雷公藤内酯干预组神经元的数量和形态与对照组相似,海人酸组海马神经元P13K、Akt、ITITOR蛋白表达与对照组比较均减少,而雷公藤内酯干预组海马神经元的P13K、Akt、mTOR蛋白表达均较海人酸组增加,差异均有统计学意义（P〈0．05）。结论雷公藤内酯可能通过上调P13K／Akt／mTOR信号通路蛋白表达对癫痫大鼠海马神经元发挥保护作用。     

高血压脑出血的显微外科治疗进展

高血压脑出血（Hypertensive intrac-rebral hemorrhage,HICH）是具有高发病率、高病死率、高致残率的急性脑血管疾病,占所有脑卒中患者的10%-20%,早期病死率可高达49.4%。随着人口老龄化,其发病率逐年提高;而外科手术的干预,使其病死率有所下降,但致残率居高不下。如何提高手术疗效和患者生存质量,一直是神经外科医师努力的方向。微侵袭血肿清除术因其手术创伤小,恢复快,是目前国内治疗高血压脑出血的重要手段。     

阿尔茨海默病治疗的研究进展

阿尔茨海默病（AD）是一种隐匿性起病,进行性恶化的神经退行性疾病,临床最初表现为认知功能障碍,并有可能在5～10年内完全衰退。患者往往伴随严重的记忆力丧失、精神行为异常、人格改变、言语功能障碍,无法独立生活,最终近乎于植物状态。Ferri等采用DISMOD软件在全球60岁以上人群中估计,全球的痴呆患者人数到2040年将达到8llO万左右。     

神经内镜联合亚低温治疗高血压基底节区脑出血

目的 探讨神经内镜联合亚低温在治疗高血压基底节区脑出血中的临床应用价值.方法 回顾性分析我院神经内镜治疗高血压基底节区脑出血患者40例的临床资料,并对治疗结果进行分析.结果 神经内镜治疗组22例(甲组),神经内镜联合亚低温治疗组18例(乙组),术后3个月根据GCS评分,甲组恢复良好1例,中残4例,重残6例,植物生存6例,死亡5例;乙组恢复良好4例,中残8例,重残3例,植物生存1例,死亡2例,两组比较差异有统计学意义(P＜0.05).两组颅内压比较第1天两者差异不明显,但第2、3天亚低温组颅内压明显降低.结论 神经内镜是治疗高血压基底节区脑出血较为有效的手术方式,联合亚低温治疗能有效降低颅内压,改善术后神经功能恢复,具有较好的临床应用价值.     

墨蝶呤还原酶基因与精神分裂症相关性的研究进展

墨蝶呤还原酶（SPR）催化四氢生物蝶呤（BH4）从头合成途径的最后一步反应。SPR基因遗传缺陷或突变可导致BH。的合成紊乱,影响单胺类神经递质（如多巴胺、5-羟色胺及谷氨酸等）的合成或释放,进而参与包括精神分裂症在内的多种神经精神系统疾病的发生发展过程。此外,SPR基因敲除小鼠表现出持续增强的自主活动等类精神分裂症症状,说明该基因在精神分裂症的发病中扮演重要的角色。进一步研究SPR基因及其单核苷酸多态性的功能,可为阐明精神分裂症的发病机制提供重要的线索,也为新一代抗精神病药物的研制及开发开拓新的视野。现对SPR基因与精神分裂症的相关研究做一综述。     

Dysfunctional autophagy in Alzheimer＇s disease： pathogenic roles and therapeutic implications

Neuronal autophagy is essential for neuronal survival and the maintenance of neuronal homeostasis. Increasing evidence has implicated autophagic dysfunction in the pathogenesis of Alzheimer＇s disease （AD）. The mechanisms underlying autophagic failure in AD involve several steps, from autophagosome formation to degradation. The effect of modulating autophagy is context-dependent. Stimulation of autophagy is not always beneficial. During the implementation of therapies that modulate autophagy, the nature of the autophagic defect, the timing of intervention, and the optimal level and duration of modulation should be fully considered.