载脂蛋白E基因多态性对高血压脑出血发病的影响

目的 了解载脂蛋白E(APOE)基因多态性与高血压脑出血(HICH)发病的关系. 方 法 设计对照研究,对川北医学院附属医院神经外科自2007年9月至2010年12月收治的128例HICH患者(HICH组)及84例正常成人(对照组)采用聚合酶链反应限制性片段长度多态性法(PCR-RFLP)检测APOE基因型,比较2组对象APOE基因型及等位基因频率的差异,并进一步比较不同A POE基因型患者发病年龄、性别、血压、血脂、出血部位、血肿大小等因素的差异. 结果 HICH组有吸烟嗜好、糖尿病史的比例以及总胆固醇(TC)、低密度脂蛋白(LDL-C)浓度均明显高于对照组,差异有统计学意义(P＜0.05).HICH组APOEε3/4基因型及APOEε4等位基因的分布频率明显高于对照组,而APOEε3/3基因型、APOEε3等位基因的分布频率明显低于对照组,差异有统计学意义(P＜0.05).HICH组中APOEε3/4基因型及APOEε4等位基因携带者的发病年龄≤45岁和浅部出血的比例以及LDL-C及TC血浆浓度均明显高于APOEε3/3基因型及APOEε3等位基因携带者,发病时收缩压明显低于APOEε3/3基因型及APOEε3等位基因携带者,差异均有统计学意义(P＜0.05). 结论 APOE基因多态性对HICH的发生有重要影响,影响因素包括发病年龄、血压、血脂以及出血的部位,其机制可能与影响动脉粥样硬化和血管淀粉样变有关.     

抑郁症患者的APOE基因多态性及血脂水平的研究

目的探索载脂蛋白E(apolipoprotein E,APOE)基因多态性与抑郁症之间的关系及其对抑郁症患者脂代谢的影响。方法对92例符合中国精神障碍分类与诊断第三版(CCMD-3)抑郁发作的患者和60例正常对照进行APOE基因分型、测量他们的体重、身高、腰围、臀围,并测定血脂水平,包括总胆固醇(TC)、甘油三脂(TG)、高密度脂蛋白胆固醇(HDL)、低密度脂蛋白胆固醇(LDL)。以17项汉密尔顿抑郁量表(HAMD17)和汉密尔顿焦虑量表(HAMA)评定抑郁症患者的抑郁、焦虑症状。结果抑郁症与对照组间APOE基因型及等位基因频率无显著差异。抑郁症组中,携带APOEε4等位基因的患者平均TC显著高于不携带APOEε4等位基因的患者,差异有统计学意义(P(0.05)。对照组中,携带APOEε4等位基因者与不携带APOEε4等位基因者相比,体质参数、血脂平均值均无差异(P(0.05)。携带和不携带APOEε4等位基因的抑郁症患者TG值均分别高于携带和不携带APOEε4等位基因的对照组TG值,差异有显著性(P(0.05,P(0.01);携带和不携带APOEε4等位基因的抑郁症患者的HDL值分别比对照组相应者低,差异有显著性(P(0.01,P(0.001);携带APOEε4等位基因的抑郁症患者的HAMD17阻滞项评分高于不携带此等位基因的抑郁症患者,差异有显著性(P(0.05)。结论抑郁症与APOE基因多态性无明显关联。抑郁症患者存在一定的血脂紊乱,尤其是携带APOEε4等位基因的抑郁症患者可能有更多的血脂代谢问题,而且携带APOEε4等位基因的抑郁症患者HAMD17阻滞项评分较高。     

广州市阿尔茨海默病人及正常老人丁酰胆碱酯酶基因K变异对照研究

目的　观察丁酰胆碱酯酶基因 (BCHE)K变异在广州地区汉族老年人中的分布 ,探讨其与晚发阿尔茨海默病 (AD)的关联性。方法　以 10 6例晚发AD患者和 133名健康老年人为对象进行病例 对照研究。采用等位基因特异聚合酶链反应法 (AS PCR)分析BCHE基因K型多态性。结果　晚发AD患者和正常老年人中 ,正常等位基因 1的频率分别为 93 4 0 %和 93 6 1% ,K变异等位基因 2的频率分别为 6 6 0 %和 6 39% ;晚发AD患者和正常老年人之间BCHE基因K多态各等位基因和基因型分布差异无显著性 (P >0 0 5 ) ;样本采用载脂蛋白Eε4基因 (APOEε4 )分层后 ,AD组与对照组BCHE基因K变异频率仍然无显著性差异 (P >0 0 5 )。结论　BEHE K变异在广州地区汉族人群中与晚发AD不存在关联 ,提示该多态性不是晚发AD的风险因子。     

精神分裂症与多巴胺D4受体基因及载脂蛋白E基因的关联分析

目的　探讨上海地区汉族人群载脂蛋白E(apoE)基因、多巴胺D4 受体 (DRD4)基因与精神分裂症的易患性、患者的性别、发病年龄以及病程之间的关系。方法　应用聚合酶链反应扩增技术及限制性片段长度多态性对 80例精神分裂症患者和 80名正常人分别测定apoE、D4基因型和等位基因。结果　 (1 )患者组apoE等位基因ε2 频率明显高于对照组 ,与精神分裂症呈显著正关联 [相对危险度 (RR) =2 0 1 ,P <0 0 5] ;而且患者组男性等位基因ε2 频率明显高于对照组男性 ,与精神分裂症呈显著正关联 (RR =8 5l,P <0 0 5)。 (2 )DRD4基因与精神分裂症无关联 ,但是发病年龄与A2 ,A4等位基因及性别与 4/ 4基因型有关联 (P <0 0 5) ;(3)患者组与对照组携带ε4 与非携带ε4 间比较 ,DRD4基因的基因型和等位基因频率均无差异。患者组和对照组的组内携带ε4 与非携带ε4 间比较的差异均有显著性 ,对照组携带ε4 组的DRD4基因型 4/ 4 (85 % )和等位基因A4(89% )频率均明显高于非携带ε4组 (55 % ,67% ) ,而非携带ε4 组的等位基因A2 (2 9% )频率高于携带ε4 组 (1 2 % ) ;患者组非携带ε4 组的DRD4基因型 2 / 2 (1 3 % )和等位基因A2 (2 4 % )频率均高于携带ε4 组 (0 % ,8% )。结论　 (1 )apoE基因可影响精神分裂症患者的易患性     

潮汕人群自发性深部脑出血与载脂蛋白E基因多态性的关系

目的探讨在潮汕人群中载脂蛋白E(apolipoprotein E,APOE)基因多态性与自发性深部脑出血(spontaneous deep intracerebral hemorrhage,SDICH)的关系。方法收集297例潮汕地区SDICH病人作为研究组(n=297),同时选取性别、年龄与研究组相匹配的201例轻度颅脑损伤病人作为对照组(n=201)。收集两组病人的基本资料及病史,同时检测血脂水平。应用高分辨熔解曲线分析法(high-resoluation melting assay,HRM)检测APOE基因型并行测序验证。结果与对照组相比,研究组病人饮酒史多见(P=0.000),收缩压及舒张压明显升高(P=0.000)。HRM法检测APOE基因型与测序结果一致。潮汕人群中APOE基因以ε3/ε3型最常见,占76.6%(154/201),其余分别为ε3/ε2型10.45%(21/201)、ε3/ε4型9.95%(20/201)、ε2/ε4型1.99%(4/201)、ε2/ε2型0.50%(1/201)、ε4/ε4型0.50%(1/201)。与对照组比较,研究组病人ε2/ε2、ε2、ε4的频率较高(P0.05),而ε3/ε3和ε3的频率较低(P0.05);幕上SDICH病人ε2/ε2、ε2、ε4的频率较对照组高(P0.05),而ε3/ε3和ε3的频率较低(P0.05);幕下SDICH病人ε4的频率明显高于对照组(P0.05)。结论 APOE基因ε2和ε4可能是潮汕人群中SDICH的风险因子,而且其携带频率在不同出血部位中也存在差异。     

载脂蛋白E基因多态性和急性脑损伤的关联研究

背景 急性脑损伤及其预后的影响因素是多方面的,如年龄、损伤程度与患者体质情况等,但其对外伤性脑损伤的预后结局仅作部分预测.近年来,有关遗传因素对脑损伤的影响和其预后的报道开始增多,关于载脂蛋白E在颅脑外伤预后中所起作用已引起人们的关注.在国外以往的研究中,关于载脂蛋白E基因多态性和脑损伤预后的研究结果也不相同.本研究初步探讨有关我国急性脑损伤及其预后与APOE基因之间的关系.方法 采用病例对照研究,选取94名车祸脑损伤患者和正常人作为研究对象,采用聚合酶链式反应(PCR)限制性片段长度多态性(RFLP)方法鉴定载脂蛋白E(APOE)基因型,探讨其等位基因及基因型同车祸脑损伤及其预后的关系.结果 车祸脑损伤患者中其等位基因ε2频率为0.1010,其基因型ε2/ε3的频率为0.1596明显高于正常人群ε2等位基因频率0.0050,及ε2/ε3基因型的频率0.0100(P＜0.05).同时,患者中,其未愈死亡组中ε2等位基因频率为0.1970及ε2/ε3基因型的频率为0.2727,明显高于好转治愈组ε2等位基因频率0.0508及ε2/ε3基因型的频率0.1017(P＜0.05),有统计学意义.结论 APOE基因的等位基因ε2基因型ε2/ε3初步可作为预示不良的预后参数.     

朊蛋白基因多态性与老年性痴呆的相关性研究

目的探讨朊蛋白基因(PRNP)129密码子多态性与老年性痴呆(AD)发病的相关性。方法采用病例-对照研究方法,以PCR-RFLP方法检测驻京部队干休所60例晚发AD(LOAD)患者与92例健康老年对照的PRNP129密码子基因、ApoEε4等位基因多态性。结果驻京部队干休所汉族老年人群中PRNP129密码子甲硫氨酸纯合(MM)基因型频率为94.08%,甲硫氨酸缬氨酸杂合(MV)基因型频率为5.92%,未发现缬氨酸纯合(VV)型。ApoEε4等位基因分层前后,MM基因型发生LOAD的风险性差异无统计学意义。PRNP129密码子MM型不是LOAD的独立危险因素(OR=3.27,95%CI=0.402～26.605)。结论东亚人群与欧洲人群PRNP129密码子多态性分布不同。PRNP129密码子MM基因型携带者发生LOAD的风险无显著增高,提示MM基因型不参与LOAD发病。     

乌鲁木齐市老年人群中载脂蛋白E基因与Alzheimer病的相关分析

目的　分析乌鲁木齐市老年人群中载脂蛋白E(ApoE)基因与Alzheimer病 (AD)的相关性。方法应用聚合酶链式反应扩增技术及限制性片段长度多态性技术对乌鲁木齐市 6 0例散发性AD患者和 90例对照者的ApoE基因进行分型 ,分别计算两组ApoE各等位基因、基因型的频率。结果　 (1)AD患者组中ApoEε2、ApoEε3、ApoEε4等位基因出现的频率分别为 6 6 7%、75 83%、17 5 0 % ,而对照组分别为 13 33%、79 4 5 %、7 2 2 % ;其中 ,ApoEε4等位基因在AD组中出现的频率明显高于对照组 (P <0 0 5 ) ,ApoEε2等位基因却低于对照组 (P <0 0 5 ) ;(2 )ApoEε4等位基因在不同性别、年龄、受教育程度中的分布差异具有显著性 (P <0 0 1,P <0 0 1,P <0 0 0 1)。结论　 (1)ApoEε4等位基因与中国乌鲁木齐散发性AD有明显相关性 ,其基因型以ε3/ε4为主 ;(2 )ApoEε2等位基因在AD发生时可能具有一定保护作用 ;(3)评价AD发病风险时 ,性别、年龄、受教育程度的因素不容忽视。女性、75岁以下、低教育程度、ApoEε4等位基因携带者可能具有更高的AD发病危险性     

心血管危险因子与迟发性阿尔茨海默病行为和精神症状间的相关性研究

目的研究心血管危险因子载脂蛋白E(ApoE)、载脂蛋白C-Ⅰ(ApoC-Ⅰ)以及低密度脂蛋白受体相关蛋白(LRP)与汉族迟发性阿尔茨海默病(LOAD)发生行为和精神症状(BPSD)之间的相关性。方法应用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)技术或直接通过PCR方法,分析了136例LOAD(伴BPSD者79例,无伴BPSD者57例)及150名健康老年人的ApoE、ApoC-Ⅰ与LRP基因型。结果①与对照组比较,BPSD组ApoEε4等位基因及ε4基因型出现的频率增高(P<0·001),而ApoEε3等位基因出现频率降低(P<0·001),ApoC-ⅠH2等位基因出现的频率增高(P<0·05);无BPSD组亦出现了ApoEε4等位基因及ε4基因型频率的增高(P<0·05)。②在BPSD组和无BPSD组中,前者ApoEε4等位基因及基因型出现的频率高于后者(P<0·05),而其ApoEε3等位基因频率则低于后者(P=0·001);前者ApoC-ⅠH2等位基因出现的频率高于后者(P=0·005),而其ApoC-ⅠH1等位基因频率则低于后者(P=0·005);③LRP各等位基因出现频率在3组间均无显著性差异(P>0·05)。结论ApoEε4及ApoC-ⅠH2等位基因是LOAD出现BPSD的遗传危险因子,ApoEε3及ApoC-ⅠH1等位基因则可能有保护效应;此研究未能证明LRP基因C766T多态性与LOAD出现BPSD有相关关系。     

乙酰辅酶A:胆固醇乙酰转移酶基因单核苷酸多态性与散发性阿尔茨海默病的相关性研究

目的 此实验旨在探讨ACAT1的基因甾醇氧-乙酰转移酶（sterol O-acyltransferase． SOAT1）的单核苷酸多态性位点rs1044925与散发性AD（SAD）是否具有相关性。方法 在中国北方汉族人群中收集了SAD107例．以及性别和年龄与之相匹配的同一地区健康对照者118例．采用聚合酶链反应-限制性片段长度多态性（PCR—RFLP）方法检测了SOAT1多态性位点rs1044925的基因型以及载脂蛋白E（Apolipoprotein E，APOE）的基因型。结果 rs1044925位点在SAD组的基因型（AA．AC．CC）频率分别为82．2％。16．8％，1．0％，在对照组的基因型频率分别为81．4％．17．8％，0．8％．两组间基因型频率差异无显著性（P=1．000，χ^2=0．030，OR=0．863．95％CI=0．478～1．857）。SAD组等位基因（A．C）频率分别为90．7％、9．3％，对照组等位基因频率分别为90．3％、9．7％，两组间等位基因频率差异亦无显著性（P=1．000．χ^2=0．021，OR=0．885，95％CI=0．508～1．774）。当数据用ApoEε4分层后．rs1044925位点基因型频率和等位基因频率两组间差异仍无显著性（P〉0．05）。结论 研究表明在中国北方汉族人群中ACAT1的基因SOAT1多态性位点rs1044925与SAD无相关性，SOAT1可能不是SAD的遗传易感基因。     

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.     

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.     

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.     

Modelling of movement of the lamprey: Control of oscillators

This article discusses the control methods of the central pattern generator (CPG). First a control model of the CPG is presented using 2 oscillators, and we suggest that phasic modulation to the CPG by means of phasic information is effective for controlling the phase difference between oscillators. Next, two models for controlling the CPG of a lamprey are proposed. One model describes a control system from the brain stem, in which the reticulospinal neurons control the CPG by receiving feedback signals and sending control signals to the neck region of the CPG. The other is a model for learning an localized control system to generate a desired motor pattern. By means of these models, a role of the efference copy is suggested.     

利培酮对精神分裂症患者生活质量的影响

目的：比较利培酮与氟哌啶醇对精神分裂症患者生活质量的影响。方法：对门诊72例服用氟哌啶醇及74例服用利培酮的精神分裂症患者用生活质量综合评定问卷（GQOLI）、阳性与阴性症状量表（PANSS）、副反应量表（TESS）进行评定。结果：利培酮组患者治疗后生活质量有所提高,而氟哌啶醇组患者生活质量有所下降。结论：利培酮治疗有利于患者提高生活质量。     

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.     

Effect of high simple dose of cisplatinum and of radiation on the brain of rabbit

Abstract

In former studies of intracarotid and intravenous administration of cisplatinum, separate and combined with brain irradiation, we found no cerebral damage. In this study! gradually increasing high doses (above the therapeutic ones) of cisplatinum were administered intravenously to one series of rabbits arid increasing high amounts of irradiation (above the therapeutic amounts) were given to another series. Although the rabbits that received highest doses of irradiation developed areas of alopecia and skin ulcers on the head! the general clinical and histopathologic examination of the rabbits brains in both series was normal. The purpose of this study was to establish the effects of high doses of intravenous cisplatinum and irradiation on the rabbits brains. [Neural Res 1997; 19: 216–218]