5-脂氧合酶激活蛋白基因和白介素-1A基因多态与缺血性脑卒中的相关性

目的 探讨中国北方地区汉族人群5-脂氧合酶激活蛋白(ALOX5AP)基因和白介素-1A(IL-1A)基因多态与缺血性脑卒中(IS)的相关性.方法 采用病例-对照研究,检测构建ALOX5AP基因单倍型HapA的4个位点:SG13S25、SG13S32、SG13S89、SG13S114和IL-1A基因-889位点在对照组、IS组及IS亚组中多态的分布.结果 ALOXSAP基因SG13S114位点AA基因型可能是血栓性脑梗死独立的风险因素(OR=1.479,95% CI 1.024～2.135,P=0.037),且其风险性主要来源于A等位基因(OR=1.313,95% CI 1.017～1.693,P=0.036);IL-IA基因-889位点T等位基因可能是血栓性脑梗死的易患等位基因(OR=1.540,95% CI 1.075～2.204,P=0.023).HapA单倍型和IS没有相关性,GCGA单倍型可能是IS的危险单倍型(OR=1.683,95% CI 1.138～2.487,P=0.008).同时携带ALOX5AP基因GCGA单倍型和IL-1A-889T等位基因的个体患IS的风险性显著增加(OR=1.608,95% CI 1.607～2.423,P=0.022).结论 ALOXSAP基因、IL-1A基因的多态与IS具有相关性,二者的协同作用可显著增加IS的患病风险.     

中国人群ALOX5AP基因SG13S114A/T多态性与缺血性卒中相关性的Meta分析

目的对5-脂氧合酶激活蛋白(ALOX5AP)基因第1内含子SG13S114A/T多态性与缺血性卒中(IS)的关联性研究进行meta分析。方法通过文献检索2004～2009年发表的中国人ALOX5AP基因SG13S114A/T多态性与IS相关性的病例-对照研究,剔除不符合要求的文献;以基因型和等位基因频数的优势比(OR)值为统计量,以漏斗图和Egger法检验发表偏倚,根据同质性检验结果合并数据,采用Revman4.2版统计软件进行数据统计。结果 5篇文献符合条件纳入研究,入选文献无明显发表偏倚。同质性检验显示基因型(AA+AT)/TT的统计量χ2=1.00,P=0.91;等位基因频数A/T的统计量χ2=8.18,P=0.09,各研究间无异质性。数据合并结果显示,SG13S114A/T位点(AA+AT)/TT的OR值为1.22,95%CI为1.09～1.36,Z值为3.5,P<0.05;等位基因频数A/T的OR值为1.05,95%CI为0.96～1.14,Z值为1.09,P=0.28。结论 ALOX5AP基因SG13S114A/T多态性与中国人群IS具有相关性,AA基因型可能是IS的易感基因型。     

中国北方汉族人群5-羟色胺2A受体基因的T102C多态性与重性抑郁症的关联研究

目的 探讨中国北方汉族人群重性抑郁症患者与5-羟色胺2A(5-HT2A)受体基因的T102C多态性之间的关系.方法 选取375例重性抑郁症患者作研究,以374名健康人作对照,应用聚合酶链式反应(PCR)扩增技术及直接测序法测定所有研究对象的5-HT2A受体基因T102C多态性的基因型和等位基因分布.结果 5-HT2A受体基因T102C多态性基因型和等位基因在患者组和对照组的分布差异无统计学意义(P>0.05);按照发病年龄(30岁为界)、有无家族史分层后,患者组与对照组间基因型和等位基因分布也无统计学意义(P>0.05).结论 未发现中国北方汉族人群5-HT2A受体基因T102C多态性与重性抑郁症存在关联.     

色氨酸羟化酶2基因多态性与强迫症的关联研究

目的 探索汉族人群中具有中枢特异性的色氨酸羟化酶2(TPH2)基因多态性与强迫症的关系.方法 选取TPH2基因转录区的单核苷酸多态rs4570625,采用TaqMan探针SNP基因分型技术测定137例强迫症患者和190名健康人的多态分布. 结果强迫症组色氨酸羟化酶(TPH)-2基因rs4570625G/T多态基因型及等位基因频数多态分布与对照组间有统计学差异 (χ2=9.972,P<0.01;χ2=8.417,P<0.01); GG基因型和G等位基因与强迫症之间存在显著正关联 [比数比(OR)值分别为2.239和1.587].早发型患者组该多态基因型及等位基因频数多态分布与对照组间有显著差异 (χ2=9.202,P<0.05;χ2=8.833,P<0.01); GG基因型和G等位基因与早发型强迫症之间存在显著正关联[OR值分别为2.514和1.886],晚发型患者组与对照组间无统计学差异. 结论在汉族人群中色氨酸羟化酶TPH2基因rs4570625G/T多态可能与强迫症存在遗传关联,GG基因型和等位基因G可能主要是早发型强迫症的风险因子.     

中性内肽酶基因C159T多态性与阿尔茨海默病关联的初步研究

目的 观察中性内肽酶(neprilysin,NEP)C159T多态在广东地区汉族老年人中的分布,探讨其与晚发阿尔茨海默病(AD)的相关性.方法 以91例晚发AD患者和97名正常老年人为对照进行病例-对照研究.用聚合酶链反应-限制性片段长度多态性方法(PCR-RFLP)分析NEP基因C159T多态性和载脂蛋白E(apoE)基因多态性.结果 AD组C159T多态T等位基因频率较对照组降低(23.2%vs 25.3%,χ2=184.96,P<0.05),而两组间基因型频率差异无统计学意义(P>0.05).AD组apoE等位基因ε4与AD成正关联(19.2%vs 8.2%,OR=2.648,χ2=9.66,P<0.05).无论是否携带ApoEε4,C159T各基因型和等位基因分布在两组间差异均无统计学意义(P>0.05).结论 NEP基因C159T多态C等位基因可能与晚发AD关联,未发现APOEε4与该多态性存在协同效应.     

广东汉族人群缝隙连接蛋白37基因多态性与动脉粥样硬化性脑梗死的关系

目的探讨广东汉族人群缝隙连接蛋白37(Cx37)基因多态性与动脉粥样硬化性脑梗死的关系。方法应用SNaPshot技术,检测250例动脉粥样硬化性脑梗死患者(病例组)和200例健康人(对照组)的Cx37基因rs1764391多态位点的基因型和等位基因频率。结果病例组与对照组Cx37基因的多态位点rs1764391的基因型分布无统计学意义(P=0.217);病例组的T等位基因频率高于对照组(22.4%vs 17.7%,P=0.085);病例组中,TT+CT基因型(T等位基因携带者)的颈总动脉内膜-中膜厚度大于CC基因型,差异有统计学意义(P=0.032)。结论广东汉族人群Cx37基因的多态位点rs1764391与动脉粥样硬化性脑梗死无关,T等位基因增加颈总动脉内膜-中膜厚度。     

5-脂氧合酶激活蛋白基因多态性与细胞色素P450酶3A5基因多态联合交互作用显著增加脑梗死风险

目的 对中国浙江南部地区人群花生四烯酸代谢脂氧合酶通路5-脂氧合酶激活蛋白基因(ALOX5AP基因)4个单核苷酸多态性(SNPs)和细胞色素P450酶(CYP450)通路4个SNPs的多态性进行研究,探讨基因多态性、基因-基因间联合交互作用与脑梗死的患病风险的相关性.方法 采用病例对照设计,测定了292例脑梗死患者和259例对照者8个基因位点,包括ALOX5AP基因的4个位点:SG13S32(rs9551963)、SG13S42(rs4769060)、SG13 S89(rs4769874)、SG13Sl14(rs10507391),及EPHX2基因G860A(rs751141)、CYP2C9*2基因A1075C (rs1057910)、CYP2C9*3基因C430T(rs1799853)和CYP3A5基因A6986G(rs776746)位点SNPs.应用广义多因子降维法(GMDR)软件检测基因与基因之间的交互作用.结果 脑梗死组和对照组中8个候选基因位点的基因型分布在脑梗死组和对照组间比较差异无统计学意义.GMDR方法显示最优模型为SG13Sl14和A6986G两基因联合作用模型,其样本检验准确度56.32％,交叉检验一致性为10/10,符号检验P=0.011.调整年龄、高血压、糖尿病因素后SG13S114和A6986G交互变量与脑梗死患病风险正相关(OR=1.804,95％CI1.180～2.759,P=0.006).结论 SG13Sl14和A6986G基因联合交互作用显著增加脑梗死患病风险.对基因与基因间的交互作用分析,有助于更深入地研究复杂疾病的基因型和表型间的关系.     

卷曲蛋白6基因多态性与中国北方汉族儿童神经管缺陷的相关性

目的 研究中国北方汉族儿童卷曲蛋白6基因编码区单核苷酸多态性(singlenucleotide polymorphisms,SNPs)与神经管缺陷(neural tube defects,NTDs)发生的相关性.方法 采用PCR扩增和测序的方法对135例NTDs患儿和135例对照者卷曲蛋白6基因编码区3个错义单核苷酸多态位点(rs827528,rs3808553,rs12549394)进行基因分型及统计学分析.结果 rs3808553等位基因T和基因型TT在病例组中的频率显著高于对照组,T等位基因和TT基因型儿童发生NTDs的危险性分别是G等位基因和GG基因型的1.575倍(OR=1.575,95％CI1.112 ～2.230,P=0.010)和2.811倍(OR =2.811,95％CI 1.325～5.967,P=0.023);其余2个多态位点在两组间等位基因与基因型分布差异不具有统计学意义.3个SNPs位点间的单体型A-G-C在病例-对照组间分布具有统计学意义(OR =0.560,95％CI0.378～0.830,P=0.004),而单体型A-T-C在病例-对照组间分布也具有统计学意义(OR=1.670,95％CI 1.126 ～2.475,P=0.011).结论 中国北方汉族儿童中卷曲蛋白6基因rs3808553位点多态性与NTDs发生具有明显相关性,基因型TT使NTDs发生的危险度增加,而rs827528和rs 12549394位点多态性与NTDs发生无明显相关性.     

5-羟色胺2A受体基因-1438A/G多态性与抑郁症的关联研究

目的探讨中国汉族人群中抑郁症患者与5-羟色胺2A(5-HT2A)受体基因-1438A/G多态性之间的关系。方法采用高温连接酶检测反应法,检测254例抑郁症患者和231例正常对照者的5-HT2A受体基因-1438A/G多态性的基因型和等位基因分布。结果(1)5-HT2A受体基因-1438A/G多态性的基因型和等位基因频率在患者组和对照组的分布差异无统计学意义(P>0.05)。(2)患者组-1438A/G多态性的三种基因型之间的汉密尔顿抑郁量表总分和各因子分的差异无统计学意义(P>0.05)。(3)-1438A/G多态性基因型及等位基因在性别和有无精神病疾病家族史之间无显著差异(P>0.05)。结论在中国汉族人群中未发现5-HT2A受体基因-1438A/G多态性与抑郁症存在关联。     

湖南地区汉族人群Per2基因多态性与睡眠癫痫的相关性研究

目的探讨Per2C111G基因多态性与中国湖南地区汉族人群睡眠癫痫的关系。方法选取湖南地区汉族癫痫患者300例及健康对照组100例,癫痫患者按好发时间分为觉醒癫痫组、不定期癫痫组、睡眠癫痫组。采用聚合酶链反应(PCR)和基因测序方法检测Per2基因C111G位点的多态性。结果湖南地区汉族人群中,Per2基因C111G多态位点的基因型频率分别为:CC型87.0%、CG型13.0%、GG型0.0%,等位基因C和G频率分别为93.5%和6.5%。癫痫组和对照组间基因型及等位基因型频率差异无统计学意义(P>0.05)。3个癫痫亚组间基因型及等位基因型频率差异亦无统计学意义(P>0.05)。结论 Per2基因C111G位点多态性可能与湖南地区汉族人群睡眠癫痫无关。     

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.     

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.     

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。     

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]