神经纤维瘤病在中枢神经系统的临床表现和治疗(附14例报告及文献复习)

目的回顾分析侵犯中枢神经系统的神经纤维瘤病之临床特点和治疗经验。方法14例诊断明确的神经纤维瘤病患者，Ⅰ型者（2例）主要以神经胶质细胞或神经细胞发育不良（巨脑回）、成瘤性（视神经胶质瘤）以及颅骨缺损为特征；Ⅱ型者（12例）病变主要侵犯脑的被覆组织，如脑膜和神经鞘膜，表现为许旺细胞瘤和脑膜瘤病。针对不同肿瘤类型和主要病征采取个体化治疗方案．其中Ⅰ型蝶骨发育缺损导致进展性突眼者采取眶后壁钛板塑形修补术，脑发育异常引起癫痫发作者予以药物治疗：Ⅱ型双侧听神经瘤者，根据肿瘤大小、听力损伤程度选择手术切除；有占位效应的并发性肿瘤（多发脑膜瘤、神经鞘瘤）患者也分别采取手术切除；对侧未手术的听神经瘤或多发脑膜瘤、手术后残留听神经瘤复发者施以γ-刀治疗。结果14例患者平均随访27个月，12例Ⅱ型患者中11例经综合治疗后所有肿瘤控制良好，1例死于颅内多发肿瘤侵袭生长。10例13耳行听神经瘤切除术，3例复发．1例死亡：仅3耳保存听力。结论神经纤维瘤病在中枢神经系统中表现多样，多部位、多种类型肿瘤和畸形并存．使治疗十分困难，应当根据不同病变类型和主要的临床症状采取个体化的治疗方案。     

颅内血管外皮细胞瘤瘤周水肿与肿瘤侵袭性的关系

目的探讨颅内血管外皮细胞瘤（HPC）MRI显示的瘤周水肿与Ki67因子表达的相关关系。方法采用免疫组织化学法（S-P法）,用抗Ki67抗体对29例颅内血管外皮细胞瘤组织标本和25例血管瘤型脑膜瘤标本进行标记并分析,对MRI图像上显示的瘤周水肿情况进行评分,对照做相关分析。结果29例颅内血管外皮细胞瘤Ki67均呈阳性表达,与对照组血管瘤型脑膜瘤组之间具有统计学意义（P〈0．01）;随着肿瘤瘤周水肿MRI评分的增高,Ki67阳性表达水平也升高（P〈0．05）。结论颅内血管外皮细胞瘤MRI表现瘤周水肿与肿瘤Ki67蛋白的表达程度相关,可做为临床分析肿瘤治疗和预后的参考。     

侧脑室巨大肿瘤(附14例报告)

目的 探讨侧脑室巨大肿瘤的手术方法与预后的关系。方法统计本科15年间手术和病理证实的侧脑室肿瘤的材料。结果本组14例中,男性9例,女性5例。左侧8例,右侧6例。手术全切除11例,近全切除3例,再次V-P分流3例,无手术死亡。病理证实脑膜瘤4例,星形细胞瘤（Ⅱ级）3例,室管膜瘤3例,室管膜母细胞瘤2例,室管膜瘤伴少枝胶质细胞瘤（Ⅱ级）1例,血管性伴少枝胶质细胞瘤1例。结论根据肿瘤的具体部位,采取不同的手术切口入路,以最短距离接近和切除肿瘤为原则。行颞顶枕入路6例,颞顶人路3例,颞枕入路3例,冠状切口额部入路2例。     

伽玛刀治疗脑肿瘤及周围组织超微结构改变

伽玛刀治疗脑肿瘤及周围组织超微结构改变郑立高，徐德生，白景文，杨海贤我们曾对伽玛刀治疗后４例手术切除的肿瘤及周围不同距离活检脑组织作光、电镜组织学检查。２例为间变性星形细胞瘤（Ⅱ－Ⅲ、Ⅳ级），脑膜瘤１例，听神经瘤１例，容积分别为４．１ｃｍ３和２８．０...     

野生型Ⅱ型神经纤维瘤病基因Ⅱ亚型真核表达载体的构建及其功能

目的构建野生型Ⅱ型神经纤维瘤病基因（NF2）Ⅱ亚型的真核表达载体，观察其在人胚胎肾细胞293（HEK293）中的表达并检测其转染神经鞘瘤细胞（RT4）后的功能。方法以人胎脑cDNA文库中的NF2Ⅱ亚型基因为模板．应用聚合酶链反应技术扩增野生型NF2Ⅱ亚型基因，并定向克隆至真核表达载体pEGFP-N1质粒中：经鉴定正确的重组质粒pEGFP-NF2Ⅱ亚型，用Lipofectamine2000脂质体导人人胚胎肾细胞293，通过荧光显微镜和Western Blotting法观察基因表达水平：随后转染大鼠神经鞘瘤细胞．利用水溶性四氮唑法观察野生型NF2Ⅱ亚型基因对大鼠神经鞘瘤细胞增殖的影响。结果经序列分析证实，克隆的NF2Ⅱ亚型基因与Genebank中的序列完全一致。DNA琼脂糖凝胶电泳检测显示，经双酶切后的质粒pEGFPcDNA片段大小约为4700bp：NF2Ⅱ亚型基因cDNA片段大小为l770bp，NF2Ⅱ亚型基因的真核表达载体可瞬时转染人胚胎肾细胞293，通过荧光显微镜和Westem Blotting方法得到证实；水溶性四氮唑法检测显示，转染pEGFP-NF2Ⅱ亚型并表达NF2Ⅱ亚型编码蛋白的293细胞与对照组293细胞的增殖指数相同。结论所构建的野生型NF2Ⅱ亚型基因真核表达载体可在人胚胎肾细胞293中表达，且不具有抑制肿瘤细胞增殖的特性。     

三脑室脊索瘤样脑膜瘤1例报告及文献复习

目的：探讨三脑室脊索瘤样脑膜瘤的临床特点。方法：回顾性分析1例三脑室脊索瘤样脑膜瘤患者的临床表现、影像学资料、手术方式和病理检查结果,并结合复习相关文献。结果：患者入院时精神状态较差,白天睡眠次数增多。术前头颅MRI示鞍上三脑室区域团块状异常信号灶,约2.5 cm×2.5 cm×2.12 cm大小,T1W呈等低信号,T2W呈高低混杂信号,增强后见病灶均匀强化明显。考虑：①三脑室脑膜瘤;②淋巴瘤;③生殖细胞瘤。手术经纵裂胼胝体入路作肿瘤部分切除。病理检查为三脑室脊索瘤样脑膜瘤（WHOⅠ～Ⅱ级）。结论：成年人三脑室脊索瘤样脑膜瘤少见,确诊需病理证实,其生物学特征有待更细致和深入的临床研究。     

脑瘤术后特急性脑水肿脑疝

我院自 1995年 1月至 2 0 0 2年 3月期间共行各种类型脑肿瘤手术 2 5 6 0例 ,其中 5例手术后全麻清醒后 0 5～ 1 5ｈ突然出现特急性脑水肿、脑疝 ,经抢救脱险 ,现分析如下。临床资料　　 1.一般资料 :男 2例 ,女 3例。年龄 2 9～ 4 9岁 ,平均 4 1 4岁。病变部位及病理 :额叶Ⅱ级星形细胞瘤 1例 ,顶叶Ⅲ级星形细胞瘤 1例 ,额顶叶凸面脑膜瘤 1例 ,蝶骨脊脑膜瘤 1例 ,垂体腺瘤 1例。2 .手术方法 :全麻下常规开颅 ,星形细胞瘤及脑膜瘤均在显微镜下游离肿瘤周围 ,棉片妥善保护瘤周正常脑组织 ,进入瘤体内的血管分别电凝切断 ,最终分块将肿瘤完全…     

脊索瘤样脑膜瘤1例报道及文献复习

目的 探讨脊索瘤样脑膜瘤的诊断、治疗。方法 回顾性分析1例右侧颅内蝶骨嵴起源的脊索瘤样脑膜瘤的临床资料,并结合文献进行分析。结果 MRI和CT与一般类型的脑膜瘤一样具有典型脑膜尾征,但是CT密度（低密度）和MRI信号（长T1、长T2信号）特点不同于常见类型。手术全切肿瘤,术后12个月颅脑MRI复查显示肿瘤未复发。结论 脊索瘤样脑膜瘤是具有脊索瘤样肿瘤特点的脑膜瘤,其影像特征及病理基础均不同于一般类型的脑膜瘤,要注意与其他脊索瘤样肿瘤相鉴别。手术全切肿瘤是主要治疗方法,但是易复发,注意长期随访。     

NF2肿瘤抑制基因与中枢神经系统良性肿瘤

NF2肿瘤抑制基因定位于22q12。NF2蛋白是一种肌动蛋白相关蛋白,在细胞膜和细胞骨架之间起连接作用。NF2基因的失活通过插入、缺失和点突变(无义突变、错义突变),在神经鞘瘤(双侧和单侧)、脑膜瘤中的突变率为66％～30％,这些肿瘤的发生与NF2基因的失活有关。通过分析NF2基因的分子遗传学可进一步确定NF2的临床表型,有助于判断、处理,尤其是NF2家系的早期诊断。     

环氧化酶-2在脑膜瘤中的表达及意义

目的通过检测环氧化酶-2（COX-2）在人脑膜瘤、正常脑膜组织中的表达，探讨COX-2在人脑膜瘤发生、发展过程中的作用。方法采用免疫组织化学方法检测人脑膜瘤、正常脑膜组织中COX-2的表达及其与脑膜瘤的病理分级、侵袭性、瘤周水肿等临床病理因素的关系。结果47例脑膜瘤组织中，36例有COX-2表达，阳性表达率为76．6％，正常脑膜无COX-2表达。COX-2在患者的年龄（P〉0．05）、性别（P〉0．05）之间的表达差异无统计学意义，而在肿瘤病理分级（P〈0.01）、侵袭性（P〈0．05）、瘤周水肿（P〈0．05）之间的表达差异有统计学意义。结论COX-2在脑膜瘤中普遍表达，其与脑膜瘤的病理分级、侵袭性、瘤周水肿等临床病理因素密切相关，COX-2可能在人脑膜瘤的发生发展中起重要作用。     

The effect of age of onset of PD on risk of dementia

Background Dementia occurs in the majority of patients with Parkinson’s disease (PD). Late onset of PD has been reported to be associated with a higher risk for dementia. However, age at onset (AAO) and age at baseline assessment are often correlated. The aim of this study was to explore whether AAO of PD symptoms is a risk factor for dementia independent of the general effect of age. Methods Two community-based studies of PD in New York (n = 281) and Rogaland county, Norway (n = 227) and two population-based groups of healthy elderly from New York (n = 180) and Odense, Denmark (n = 2414) were followed prospectively for 3–4 years and assessed for dementia according to DSM-IIIR. All PD and control cases underwent neurological examination and were followed with neurological and neuropsychological assessments. We used Cox proportional hazards regression based on three different time scales to explore the effect of AAO of PD on risk of dementia, adjusting for age at baseline and other demographic and clinical variables. Findings In both PD groups and in the pooled analyses, there was a significant effect of age at baseline assessment on the time to develop dementia, but there was no effect of AAO independent of age itself. Consistent with these results, there was no increased relative effect of age on the time to develop dementia in PD cases compared with controls. Interpretation This study shows that it is the general effect of age, rather than AAO that is associated with incident dementia in subjects with PD. Received in revised form: 22 December 2005     

帕金森病运动症状进展分析

目的分析帕金森病(PD)患者运动症状进展特点。方法采用PD统一评分量表(UPDRS)Ⅲ对912例PD患者进行评估。结果与病程1年的患者比较,除病程1~2年的患者外,其他病程患者的UPDRSⅢ评分、强直分、姿势或步态异常分、轴性症状总分、言语分、步态分显著升高(均P0.05),病程5~6年及14年患者的震颤分,病程5~6年、7~8年、9~13年、14年患者的运动迟缓分、姿势分显著升高(P0.05~0.01)。轴性症状进展速度高于UPDRSⅢ评分。结论 PD患者病程早期UPDRSⅢ评分进展快,震颤症状进展独立于其他症状,轴性症状评分较UPDRSⅢ更敏感地反映疾病加重趋势。     

Frequency of accumulation of filaments in adaxonal cytoplasm of Schwann cells of myelinated fibers of rat spinal roots

Summary The frequency of accumulation of 6-nm filaments in the adaxonal cytoplasm of Schwann cells in the 6th lumbar dorsal and ventral roots was evaluated in 4-, 8-, 26- and 45-week-old Sprague-Dawley rats. The frequency was higher in 4- and 8-week-old (growing) rats than in 26- and 45-week old (mature) rats, and also higher in ventral than in dorsal roots in 4-, 8- and 26-week old rats. There were no clusters on certain groups of myelinated fibers according to the size of transverse axonal area, in both the ventral and dorsal roots. Therefore, this accumulation may reflect certain functions of the adaxonal cytoplasm of Schwann cell during natural growth and maturation of the axon and myelin sheath.     

Effects of prevention of afferentation of the development of the chick optic lobe

BONDY, S. C., M. E. HARRINGTON AND C. L. ANDERSON. Effects of prevention of afferentation on the developmentof the chick optic lobe. BRAIN RES. BULL. 3(5) 411–413, 1978.—The effects of unilateral extirpation of the right optic cup of the three-day incubated chick embryo upon the rate of synthesis and the stability of DNA in the non-innervated optic lobe, have been studied. This surgical procedure prevents innervation of the optic lobe contralateral to the removed eye, while the other optic lobe is normally innervated by retinal ganglion cells of the remaining eye. At the 20th day of incubation, the DNA content of the non-innervated lobe was below that of the paired lobe receiving normal innervation. This deficiency of cell number was caused by two events; death of an excess number of neurons formed early in embryogenesis and a reduced rate of glial proliferation in the later stages of incubation.     

Function of circle of Willis

Nearly 400 years ago, Thomas Willis described the arterial ring at the base of the brain (the circle of Willis, CW) and recognized it as a compensatory system in the case of arterial occlusion. This theory is still accepted. We present several arguments that via negativa should discard the compensatory theory. (1) Current theory is anthropocentric; it ignores other species and their analog structures. (2) Arterial pathologies are diseases of old age, appearing after gene propagation. (3) According to the current theory, evolution has foresight. (4) Its commonness among animals indicates that it is probably a convergent evolutionary structure. (5) It was observed that communicating arteries are too small for effective blood flow, and (6) missing or hypoplastic in the majority of the population. We infer that CW, under physiologic conditions, serves as a passive pressure dissipating system; without considerable blood flow, pressure is transferred from the high to low pressure end, the latter being another arterial component of CW. Pressure gradient exists because pulse wave and blood flow arrive into the skull through different cerebral arteries asynchronously, due to arterial tree asymmetry. Therefore, CW and its communicating arteries protect cerebral artery and blood–brain barrier from hemodynamic stress.     

他汀类药物的使用和颅内动脉瘤破裂相关性分析

目的 探讨他汀类药物对颅内动脉瘤破裂的影响。方法 2010年3月至2014年3月收治颅内囊状动脉瘤67例,其中破裂者32例,未破裂者35例。采用多变量Logistic回归评估他汀类药物的使用和颅内动脉瘤破裂的关系。结果 破裂组术前使用他汀类药物4例（12.5%,4/32）,未破裂组16例（45.7%,16/35）。破裂组服用他汀类药物的百分比显著低于未破裂组（P<0.01）。纠正潜在的混杂干扰后（or值: 0.30,95%可信空间:0.12~="" 0.64）显示,颅内动脉瘤破裂与他汀类药物的使用呈显著负相关,也与高血清总胆固醇浓度有关。结论 本结果提示他汀类药物对颅内动脉瘤破裂有一定的预防效果。     

Impact of our understanding of the genetic aetiology of epilepsy

A genetic contribution to aetiology is estimated to be present in up to 40% of patients with epilepsy. It is useful to categorise genetic epilepsies according to the mechanisms of inheritance into Mendelian disorders, non-mendelian or ‘complex’ disorders, and chromosomal disorders. Over 200 Mendelian diseases include epilepsy as part of the phenotype, and the genes for a number of these have been identified recently. These include autosomal recessive progressive myoclonic epilepsies such as Unverricht-Lundborg disease, Lafora disease and the neuronal ceroid lipofuscinoses, and three autosomal dominant idiopathic epilepsies. The last named have been shown to arise from mutations in ion channel genes. Autosomal dominant nocturnal frontal lobe epilepsy is caused by mutations in CHRNA4, benign familial neonatal convulsions by mutations in KCNQ2 and KCNQ3, and generalised epilepsy with febrile seizures plus by mutations in SCN1B. ‘Complex’, familial epilepsies are more difficult to analyse, but evidence has been obtained for loci predisposing to juvenile myoclonic epilepsy on chromosome 6p and 15q. Lastly, the genes underlying several spike-wave epilepsies in mice have been cloned, and three of these encode sub-units of voltage-gated calcium channels. Received: 29 September 1999/Accepted: 7 December 1999     

肌萎缩侧索硬化三例误诊分析

目的掌握肌萎缩侧索硬化(ALS)的诊断标准,以便早期准确诊断,避免误诊。方法分析3例ALS患者早期被误诊的临床资料。结果 3例患者均以下肢无力发病,逐渐波及上肢或对侧肢体,脊柱MR I示颈部或腰部椎间盘突出压迫硬膜囊,手术治疗后,症状无缓解,病情仍进行性加重,经肌电图检查证实为ALS。结论临床医师应熟知ALS的诊断标准,对患者详细询问病史、认真查体和电生理检查是减少ALS误诊的关键。     

腺垂体功能减退症临床特征变化分析

目的探讨腺垂体功能减退症患者的病因结构变化及临床表现。方法回顾性分析我院2013-01—2016-12住院及门诊78例腺垂体功能减退症患者的临床资料。结果男32例(41.03%),女46例(58.97%);诊断时年龄11~89岁,平均62.5岁;鞍区占位(包括术前及术后)52例(66.67%),席汉综合征8例(10.26%),空泡蝶鞍9例(11.65%),病因不明8例(10.26%),垂体-下丘脑发育不良1例(1.28%)。首次就诊科室:纳差厌食、恶心呕吐就诊于消化内科36例(46.15%)最常见。ACTH+TSH+Gn+G激素缺乏为19例最多,占24.36%,ACTH+TSH+Gn缺乏15例,占19.23%。结论腺垂体功能减退症病因结构发生变化,发病人群、首发症状及受累激素也不同,患者女性多于男性,发病年龄偏高,症状不典型,分布于临床多个科室,其中以低钠血症为首发临床表现就诊消化内科最多。     

Standards of instrumentation of EMG

Standardization of Electromyography (EMG) instrumentation is of particular importance to ensure high quality recordings. This consensus report on “Standards of Instrumentation of EMG” is an update and extension of the earlier IFCN Guidelines published in 1999. First, a panel of experts in different fields from different geographical distributions was invited to submit a section on their particular interest and expertise. Then, the merged document was circulated for comments and edits until a consensus emerged.The first sections in this document cover technical aspects such as instrumentation, EMG hardware and software including amplifiers and filters, digital signal analysis and instrumentation settings. Other sections cover the topics such as temporary storage, trigger and delay line, averaging, electrode types, stimulation techniques for optimal and standardised EMG examinations, and the artefacts electromyographers may face and safety rules they should follow. Finally, storage of data and databases, report generators and external communication are summarized.