p53、p21、p185蛋白表达与横纹肌肉瘤分化及预后的关系

目的研究ｐ５３、ｒａｓ和ｃ－ｅｒｂＢ－２癌基因蛋白产物ｐ２１、ｐ１８５在横纹肌肉瘤（ＲＭＳ）中的表达及其与ＲＭＳ的分型、分级和预后的关系。方法对确诊的５０例中的４１例有随访的ＲＭＳ用免疫组化ＡＢＣ法标记ｐ５３、ｐ２１、ｐ１８５蛋白，结果发现ｐ５３、ｐ２１、ｐ１８５在ＲＭＳ的阳性率分别为７２％、６８％、６０％，其阳性表达与年龄、性别和ＲＭＳ的组织类型差异无显著性（Ｐ＞０．０５）；但与分化程度有关，其中ｐ５３、ｐ２１在低分化ＲＭＳ的阳性率分别为８５％和８０％，显著高于高分化ＲＭＳ的４２．９％和２８．６％（Ｐ＜０．０５）；ｐ５３蛋白在有转移组ＲＭＳ的阳性率为８６．４％，显著高于无转移组６０．７％（Ｐ＜０．０５）；有随访的４１例病例中。存活１年的ｐ５３蛋白阳性率为８６．７％，显著高于３年的４１．７％（Ｐ＜０．０５）。结论ｐ５３、ｐ２１蛋白表达可作为肿瘤分化及恶性程度的评价指标，而ｐ５３更能反映肿瘤预后，是肿瘤预后差的重要指标之一。     

急性缺氧大鼠血浆、呼出气NO含量的变化及吸入NO对缺氧性肺血管收缩的影响

观察了大鼠急性缺氧前后血浆和呼出气一氧化氮（ＮＯ）含量的变化，结果显示，动物吸人１０％，２０ｍｉｎ后，血浆ＮＯ＿２／ＮＯ＿３浓度从２３．５６±７．１３升至４１．６３±１０．１０μｍｏｌ／Ｌ（Ｐ＜０．０１）；呼出气ＮＯ浓度出０．０９９±０．０５５增至０．１６２±０．１０８ｐｐｍ（Ｐ＜０．０１）．提示急性缺氧时ＮＯ生成增多可能在缺氮性肺血管收缩（ＨＰＶ）中起调节作用。为探讨吸入ＮＯ对ＨＰＶ的影响，本文采用人工呼吸给缺氧大鼠吸入４０ｐｐｍＮＯ，发现动物缺氧（１０％Ｏ＿２）１０ｍｉｎ后，平均肺动脉压（ｍＰＡＰ）和肺血管阻力（ＰＶＲ）较基础值明显升高（Ｐ＜０．０１）：而缺氧同时吸入４０ｐｐｍＮＯ１０ｍｉｎ，ｍＰＡＰ和ＰＶＲ较缺氧时明显降低（Ｐ＜０．０１），与基础值无显著差别（Ｐ＞０．０５），且发现△ＰＶＲ％为２．９４±９．８５％，较缺氧时６６．１８±２３．３９％明显降低（Ｐ＜０．０１），但吸入ＮＯ对体动脉压、体血管阻力，心输出量、血气和高铁血红蛋白无明显影响。从而提示吸入ＮＯ选择性降低缺氧性肺动脉高压且完全逆转ＨＰＶ。     

兔动脉硬化时脑血管血液动力学参数变化及相关性分析

本文报道了兔动脉硬化时，脑血管血液动力学参数（ＣＶＨＰ）的变化。动脉硬化组（ＡＳ组）颈动脉平均血流量（Ｑｍｅａｎ）、平均血流速度（Ｖｍｅａｎ）、最大血流速度（Ｖｍａｘ）、最小血流速度（Ｖｍｉｎ）和脑血管零压顺应性（ＣＯ）显著降低（Ｐ＜０．０５～０．０１），脑血管外周阻力（Ｒ）及脑血管特性阻抗（Ｚｃ）显著升高（Ｐ＜０．０５及０．００１）。颈动脉病变程度与Ｑｍｅａｎ、Ｖｍｅａｎ和ＣＯ有显著负相关（Ｐ＜００５），与Ｒ和Ｚｃ有显著正相关（Ｐ＜００５及０．０１）。Ｑｍｅａｎ与Ｖｍｅａｎ、Ｖｍａｘ和ＣＯ有显著正相关（Ｐ＜０．０５～０．０１），与Ｒ和Ｚｃ有显著负相关（Ｐ＜０．０１及０．０５）．对照组（Ｃ组）与ＡＳ组回归方程比较，Ｑｍｅａｎ－Ｖｍａｘ和Ｑｍｅａｎ－Ｒ斜率ｂ有显著差别（Ｐ＜０．０１及０．００１）；Ｑｍｅａｎ－Ｖｍｅａｎ、Ｑｍｅａｎ－ＣＯ和Ｑｍｅｎａ－Ｚｃ截矩ａ有显著差别（Ｐ＜０．０５～０．０１）。     

甲状腺机能亢进症患者睡眠质量及其影响因素

本文采用匹兹堡睡眠质量指数（ＰＳＱＩ）测试了１２８例甲亢患者。结果发现年龄≥３５岁的甲亢患者ＰＳＱＩ总均分高于年龄＜３５岁组（Ｐ＜０．０５）；８７．５％的甲亢患者有睡眠问题，９．３８％的患者睡眠质量较差，女性患者睡眠质量较差者的发生率明显高于男性（Ｐ＜０．０５）。甲亢患者睡眠质量与年龄、性别、抑郁、焦虑、躯体化症状、人际关系等因素呈极显著正相关（Ｐ＜０．０１）。提示在积极应用抗甲状腺药物治疗的同时，应提高睡眠质量和调整心理健康状态。     

乳头瘤病毒16型E6,P53,RB,PCNA在宫颈癌中的表达状态及相关性

应用核酸原位杂交和免疫组织化学技术，检测人子宫颈癌中人乳头瘤病毒（ＨＰＶ）１６型Ｅ６ＯＲＦ与抑癌基因产物Ｐ５３，ＲＢ和增殖细胞核抗原（ＰＣＮＡ）。在４４例宫颈癌石蜡切片中，原位杂交检测出ＨＰＶ１６Ｅ６ＯＲＦ阳性２７例（６１．３６％），其中免疫组化检测出Ｐ５３、ＲＢ、ＰＣＮＡ阳性分别为８例（２９．６３％），１４例（５２．８５％）、２０例（７４．０７％），而在１７例ＨＰＶ１６Ｅ６阴性标本中Ｐ５３、ＲＢ、ＰＣＮＡ阳性分别为７例（４１．１７％），９例（５２．９４％）、１２例（７０．５８％）。而在５例正常宫颈组织中未测出ＨＰＶ１６Ｅ６ＯＲＦ，ＰＣＮＡ只在宫颈组织上皮基底层细胞中表达。统计学分析表明，ＨＰＶ１６Ｅ６与宫颈癌密切相关（Ｐ＜０．０５），ＰＣＮＡ在宫颈癌与正常宫颈组织中有显著性差异（Ｐ＜０．０５）。未能发现宫颈癌组织中ＨＰＶ１６Ｅ６ＯＲＦ与Ｐ５３蛋白相关性（Ｐ＞０．０５）。     

地奥心血康对心肌缺血再灌犬血清肾上腺素含量，心脏指数及总外周血管阻力的影响

杂种犬随机分为地奥心血康治疗组（ＤＫＧ）及生理盐水对照组（ＣＧ）。应用荧光法测定血清去甲肾上腺素（ＮＥ）含量，定时测定平均动脉压（ＭＢＰ），心输出量（ＣＯ），计算总外周血管阻力（ＴＰＶＲ），心脏指数（ＣＩ）。结果显示：（１）再灌后的ＭＢＰ在ＤＫＧ与ＣＧ之间无明显差异，Ｐ＞０．０５；（２）再灌２４０ｍｉｎ时，ＤＫＧ中ＣＩ值高于ＣＧ（Ｐ＜０．０１）；ＮＥ值与ＴＰＶＲ值明显低于ＣＧ（Ｐ＜０．０５，Ｐ＜０．０１）；（３）ＤＫＧ中ＮＥ与ＣＩ无相关性，ＣＧ中二者呈负相关，ｒ＝－０．６８３１，Ｐ＜０．０１；（４）两组ＣＩ与ＴＰＶＲ均呈负相关，ｒ＿（ＣＧ）＝－０．７７８３，Ｐ＜０．００１，ｒ＿（ＤＫＧ）＝－０．５２１８，Ｐ＜０．００１。     

腹膜外剖宫产应用于前置胎盘33例分析

３３例前置胎盘患者应用腹膜外剖宫产术终止妊娠，与同期３３例前置胎盘患者应用腹膜内剖宫产术相比较。结果表明：手术时间：腹膜外组平均４６．９分钟，腹膜内组平均６９分钟（Ｐ＜０．０５）；出血量：腹膜外平均８６６ｍｌ，平均输血６８７ｍｌ，腹膜内组平均１１２０ｍｌ，平均输血９４３ｍｌ（Ｐ＜０．０１）．新生儿窒息率：腹膜外组２４．７％，腹膜内组３０．３％（Ｐ＞０．０５）。产后大出血率：腹膜外组９．１％，腹膜内组６．１％（ｐ＞０．０５）。肠功能恢复时间：腹膜外组平均３０．４小时，腹膜内组６８．６小时（Ｐ＜０．０１）。术后病率：腹膜外组１８．２％，腹膜内组５４．５％（Ｐ＜０．０１）。提示前置胎盘患者腹膜外剖宫产术终止妊娠优于腹膜内剖宫产术。     

广东汉族人类风湿关节炎易感性与HLA-DRB1基因相关性研究

目的探讨ＨＬＡ－ＤＲＢ１基因与类风湿关节炎（ＲＡ）相关性。方法采用ＰＣＲ－ＳＳＰ方法对４７例广东汉族人ＲＡ患者进行ＨＬＡ－ＤＲＢ１基因分型，并与相应人群健康者１０２例结果比较。结果ＨＬＡ－ＤＲ４基因在ＲＡ组显著增高（３５．１％，ＲＲ＝３．５５，Ｐ＜０．００５，ＥＦ＝０．２５２），ＤＲ１６在ＲＡ组也高于正常（ＲＲ＝２．５７，Ｐ＜０．０５）；而ＤＲ９基因在ＲＡ组显著减少（Ｐ＜０．００５）。３１例ＤＲ４＋患者患病年龄较早，病情较重（类风湿因子阳性率和Ⅱ期ＲＡ骨关节Ｘ线改变者显著高于ＤＲ４－患者，Ｐ值分别＜０．０５和０．０２５）。结论广东汉族人ＲＡ易感性与宿主ＤＲ４基因密切相关，ＨＬＡ－ＤＲ４可能是一个对判断病情和预后有价值的实验指标。     

大肠腺瘤与腺癌P21,P53,P185蛋白表达及ras,p53基因突变的检测

应用免疫组化及ＰＣＲ－ＲＦＬＰ法检测３０例大肠腺瘤、７４例大肠腺癌及癌旁粘膜Ｐ２１、Ｐ５３、Ｐ１８５蛋白表达及ｒａｓ、ｐ５３基因突变。结果表明，大肠腺瘤Ｐ２１、Ｐ５３蛋白阳性率（５３．３％，２７．６％）高于癌旁粘膜（Ｐ＜０．０１），二者过度表达与腺瘤恶性倾向有关。大肠腺癌Ｐ２１、Ｐ５３及Ｐ１８５蛋白阳性率（７２．９％，３７．８％，４７．２％）皆高于腺瘤Ｉ级不典型增生（Ｐ＜０．０１，Ｐ＜０．０５及Ｐ＜０．０５）。９例腺瘤，４０例腺癌存在两种以上蛋白表达，共同表达与腺瘤恶性倾向及腺癌预后有关。大肠腺瘤及腺癌ｒａｓ基因突变率分别为２６．７％及４１．９％，ｒａｓ基因突变与腺瘤恶性倾向有关。大肠腺瘤及腺癌ｐ５３基因２４８位点突变率分别为３．３％及１４．９％。６例腺癌存在两种基因突变，两种基因协同突变与大肠癌预后有关。提示ｒａｓ、ｐ５３及ｃ－ｅｒｂＢ－２基因改变均参与了大肠癌的发生、发展过程。     

冠心病患者SOD活性和血小板聚集性及心功能的相关性

为了解自由基在冠心病中的作用，观察了５０例冠心病患者血清ＳＯＤ活性的变化。结果显示心绞痛组患者ＳＯＤ活性显著下降，而ＭＤＡ含量明显升高，二者呈显著负相关，伴血小板聚集性增强和血小板聚集性各项指标呈显著负相关（分别为ｒ＝－０．５２，Ｐ＜０７．０１；ｒ＝－０／４１，Ｐ＜０．０５；ｒ＝－０．４０，Ｐ＜０．０５）．该组患者每搏输出量（ＳＶ）负相相关（分别ｒ＝－０．５２，Ｐ＜０．０１；ｒ＝－０４１，Ｐ＜０．     

南通地区遗传咨询患儿细胞遗传学分析与临床研究

目的研究遗传咨询患儿中染色体异常核型的发生率。方法本文自2000年1月至2008年2月对174例年龄在14周岁以内的遗传咨询患儿做了外周血淋巴细胞染色体核型分析,通过胰酶消化,G显带,必要时进行C显带检查,显微镜下进行核型分析。结果在因智力低下、性分化异常、身材矮小等前来行遗传咨询的174例患儿中,共检出异常核型61例,异常率35．06％。常染色体结构和数目异常49例,占异常核型的80．33％（49／61）,性染色体结构和数目异常12例,占19．67％（12／61）。男患儿114例,检出异常核型30例,异常率26．32％（30／114）;女患儿60例,异常核型31例,异常率51．67％（31／60）。结论异常染色体是导致智力低下、性发育异常、身材矮小等疾病的重要原因之一,对指导临床诊疗具有重要参考意义,因此染色体检查是十分必要的。     

Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS.

We report data on a group of 37 VCFS patients with specific reference to their intelligence, behaviour, and social competence. Fifty five percent of the children had a borderline to normal IQ. Mental retardation (defined as IQ < 70 or > -2 SD below the mean) was found in 45%. In the majority, the mental retardation was mild (38%) and only two patients had moderate mental retardation. Severe mental retardation seems to be rare in VCFS. The present study shows also that the incidence of mental retardation is much higher in the familial than the de novo group. Intelligence is not correlated with the presence or absence of a heart defect. Significantly higher verbal IQs than performance IQs (probably related to deficits in visuospatial-perceptual functioning) were found. Problems in social-emotional functioning and attention were also found. Further longitudinal studies are necessary to provide an accurate prognosis and appropriate intervention for VCFS children.     

书法行为干预对智残儿童注意力的康复作用

目的：探讨书法行为干预对智残儿童注意力障碍的康复使用。方法：对海淀培智中心学校的３４名智残学生,根据性别、年龄和智商匹配为实验组和对照组。两组除相同的日常教学、学习活动外,只对实验组进行３个月,每周５天,每天１小时的书法行为干预。注意力的评定指标采用注意划消测验和踪迹描绘测验两种方法,把在进行书法行为干预之前和之后两次测查结果进行比较。结果：实验组智残儿童经３个月的书法行为干预,其注意力特别是在注     

能力指标在评估弱智儿童综合康复训练中的应用

目的 探讨能力指标在评估弱智儿童康复治疗中的意义。方法 应用综合康复由训练方法对弱智儿童进行为期6个月康复训练,以6项能力指标为评判指标进行训练前后测值对比。结果 48例患儿经过6个月综合训练均有不同程度进步,有效率100％,13例进步很明显占27．1％;患儿6项能力指标训练前后均显著提高．增加率为11．36％～60．53％,其顺序依次为语言交往能力（60．53％）〉社会适应能力（48．77％）〉认知能力（46．95％）〉感知能力（36．59％）生活自理能力（15．52％）〉运动能力（11．36％）。结论 6项能力指标能全面反映弱智儿童康复治疗状况,是良好的综合评价指标。     

A complex double translocation involving four chromosomes and five breakpoints in a child with mild mental retardation.

A 6-year-old boy with speech delay and mild mental retardation (IQ 82) was found to have a complex double translocation involving four chromosomes and a total of five breakpoints, two being on the same arm. This resulted in the karyotype 46,XY,t(2;4;7)(7;8)(q14;q31;q11q22;q13). As far as the authors are aware this is the first time that such a complex double translocation has been reported. Both parents had normal karyotypes.     

一例以智力低下为首发症状的面肩肱型肌营养不良患儿D4Z4区的变异分析

目的鉴定一例以智力障碍为首发症状的面肩肱型肌营养不良(facioscapulohumeral muscular dystrophy,FSHD)患儿4q35上D4Z4区域的致病变异。方法对患儿进行韦氏智力检测,并收集其临床资料进行综合分析。提取患儿及其父母的外周血DNA,先采用医学外显子组二代测序和拷贝数变异检测,之后应用分子梳法鉴定其D4Z4重复单元的缩短情况并鉴定其来源。结果患儿总体智商估计值为41,言语理解指数估计值为45,知觉推理指数估计值为520医学外显子组测序和拷贝数变异检测未发现患儿携带致病变异,分子梳检测结果表明患儿D4Z4区的长度为5.2kb,重复单元数为2,患儿的父母均未检测到相同的变异。结论D4Z4重复单元只有2个可能是患儿智力低下和FSHD的致病原因。分子梳检测能够鉴定此重复单元的数目和来源,有助于明确诊断。     

2项必选数字记忆测验在精神发育迟滞鉴定中的对比研究

目的探讨2项必选数字记忆测验得分在精神发育迟滞患者司法鉴定与非鉴定组的异同。方法精神发育迟滞（MR）患者司法精神医学鉴定者43例,非鉴定者44例,分别进行2项必选数字记忆测验（BFDMT）和韦氏成人智力量表测查（WAIS-RC）,对鉴定组和非鉴定组之间的结果进行比较和分析。结果MR鉴定组总分、容易条目得分明显低于非鉴定组（分别为P〈0.05、P〈0.001）,在困难条目得分上两组之间无显著性差异（P〉0.05）;鉴定组的智商、言语智商值都明显低于非鉴定组,有显著性差异（P〈0.05）;操作智商两组之间无显著性差异（P〉0.05）。MR鉴定组BFDMT测验总分、容易条目分、困难条目分与WAIS-RC测验的智商总分、言语智商、操作智商分之间均呈显著正相关。结论BFDMT得分的高低有助于司法鉴定MR患者的诊断。     

Intelligent quotient estimation of mental retarded people from different psychometric instruments using artificial neural networks

Objective

The estimation of a person's intelligence quotient (IQ) by means of psychometric tests is indispensable in the application of psychological assessment to several fields. When complex tests as the Wechsler scales, which are the most commonly used and universally recognized parameter for the diagnosis of degrees of retardation, are not applicable, it is necessary to use other psycho-diagnostic tools more suited for the subject's specific condition. But to ensure a homogeneous diagnosis it is necessary to reach a common metric, thus, the aim of our work is to build models able to estimate accurately and reliably the Wechsler IQ, starting from different psycho-diagnostic tools.

Methods and materials

Four different psychometric tests (Leiter international performance scale; coloured progressive matrices test; the mental development scale; psycho educational profile), along with the Wechsler scale, were administered to a group of 40 mentally retarded subjects, with various pathologies, and control persons. The obtained database is used to evaluate Wechsler IQ estimation models starting from the scores obtained in the other tests. Five modelling methods, two statistical and three from machine learning, that belong to the family of artificial neural networks (ANNs) are employed to build the estimator.

Results

Several error metrics for estimated IQ and for retardation level classification are defined to compare the performance of the various models with univariate and multivariate analyses. Eight empirical studies show that, after ten-fold cross-validation, best average estimation error is of 3.37 IQ points and mental retardation level classification error of 7.5%. Furthermore our experiments prove the superior performance of ANN methods over statistical regression ones, because in all cases considered ANN models show the lowest estimation error (from 0.12 to 0.9 IQ points) and the lowest classification error (from 2.5% to 10%).

Conclusions

: Since the estimation performance is better than the confidence interval of Wechsler scales (five IQ points), we consider models built very accurate and reliable and they can be used into help clinical diagnosis. Therefore a computer software based on the results of our work is currently used in a clinical center and empirical trails confirm its validity. Furthermore positive results in our multivariate studies suggest new approaches for clinicians.     

A community study of severe mental retardation in the West Midlands and the importance of the fragile X chromosome in its aetiology.

This paper describes a community based study of 156 boys with idiopathic, severe mental retardation. The boys were examined and a pedigree taken before the cytogenetic results were known. The prevalence of the fragile X chromosome among this group of boys was high: 9% in the whole group and 11% after 39 boys with specific features had been excluded. The fragile X syndrome is therefore an important cause of idiopathic, severe retardation. Its clinical features of large head, large testes, and IQ in the 35 to 70 range were often but not always present in the 14 boys identified in this study. In the whole group, the recurrence of severe mental subnormality was high: 1 in 8 for brothers and 1 in 25 for sisters. This high recurrence was partly due to the fragile X syndrome, partly to X linked mental retardation not accompanied by cytogenetic abnormalities, and partly due to autosomal recessive disease. Autosomal recessive disease was perhaps higher in the West Midlands than elsewhere (such as British Columbia, for example 1) because of the disproportionate contribution by Asian immigrants.     

45名轻度精神发育迟滞儿童教育前后智力水平的比较

采用韦氏学龄儿童智力量表修订本分别对24名经2.5年特殊教育和21名经2.5年普通教育的轻度精神发育迟滞儿童进行测查,结果提示经特殊教育后总智商和操作智商明显提高(P<0.05～0.001)。特殊教育和普通教育两组进行比较,两者平均总智商的增长并无差异,作者探讨了可能原因并提出加强社会适应能力训练的必要性。