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     

浙南地区脑血管病与载脂蛋白E基因型关系分析

目的：探讨浙南地区脑血管病患与载脂蛋白E（apoE)基因多态性的关系。方法：将脑血管病患分为脑出血组与脑梗死组和对照组，分别以聚合酶链反应限制性片段长度分析法（PCR－RFLP）检测ApoE基因型。结果：对照组ApoE基因型以ε3/2最多，2组脑血管病患以ε3／3最多，其次为ε3／4。脑梗死组ε3／4基因型，ε4等位基因频率均显高于对照组（P＜0．05）；脑出血组则ε2、ε4等位基因频率略高于对照组，但差别无统计学意义（P＞0．05）。结论：ApoEε基因多态性与浙南地区脑血管病患关系密切，ε4 基因可能是脑梗死的危险因素之一，但与脑出血之间尚无明确的关系。     

耐药性癫癎患者的载脂蛋白E（ApoE）基因多态性分析

目的 研究耐药性癫痫患者的载脂蛋白E基因多态性，并探究影响耐药性癫癎形成机制的遗传因素。方法 取耐药性癫癎患者肘静脉血，用PCR-RFLP技术检测ApoE基因多态性，并与非耐药性癫癎和正常对照组进行比较分析。结果 耐药性癫癎组中ε4等位基因的频率为（16．9），明显高于非耐药性癫癎组（8．2）和正常对照组，其差异有统计学意义（P〈0．05），而ε2，ε3等位基因的频率三组之间差异无统计学意义（P〉0．05）；病例组与正常对照组ApoE基因多态性有显著性差异（P〈0．01）。结论 ApoEε4等位基因可增加耐药性癫癎发生的危险性。     

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。     

载脂蛋白E基因多态性和脑出血关系的研究

目的:探讨载脂蛋白E基因(ApoE)多态性与脑出血的相关关系。方法:采用病例-对照研究,对313例脑出血患者和351例正常对照组进行研究。采用聚合酶链式反应-限制性片段长度多态性方法测定ApoE基因多态性。结果:脑出血组ApoE基因型频率E3/3、E3/4、E3/2、E2/4、E4/4和E2/2型分别为69.0％、15.00％、11.5％、2.9％、1.0％、0.6％。ApoE各基因型和等位基因频率在脑出血组和对照组之间无显著性差异(P>0.05)。结论:研究未发现ApoE基因多态性与脑出血之间存在相关关系     

载脂蛋白E基因多态性与颈动脉粥样硬化的相关性研究

目的:研究载脂蛋白E(ApoE)基因多态性与颈动脉粥样硬化的相关性。方法:应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术,对25例B超检测颈动脉内中膜厚度(IMT)增厚患者(增厚组)和25例同期健康体检者(对照组)的ApoE基因多态性进行分析。结果:IMT增厚组ε3等位基因频率较对照组降低(P<0.05),ε4等位基因频率较对照组升高(P<0.01)。IMT增厚组的ε3/ε4基因型频率显著要高于对照组。对以上两组再按ApoE基因型分别分为3组:ApoE2(ε2/2 ε2/3),ApoE3(ε3/3)和ApoE4(ε3/4 ε4/4)。结果显示颈动脉IMT在不同基因型间差异显著,ApoE4组显著增加,颈动脉多发斑块率在此组也显著增加。结论:ApoE基因多态性与颈动脉粥样硬化形成有相关性,ε4基因是颈动脉粥样硬化形成的危险因子。     

载脂蛋白E基因多态性与高血压性脑出血的关系

目的 探讨载脂蛋白 E(ApoE)基因多态性与高血压性脑出血(HCH )的关系.方法 应用聚合酶链反应-限制性长度多态性技术( PCR-RFLP),检测45例 HCH患者的Apo E基因型,并与66名同龄健康对照组比较. 结果 HCH组ApoE基因型ε4 及ε4 携带者的频率明显高于对照组(P <0.05),而ε3、ε3/3频率明显低于对照组(P <0.01) ,ε2、ε2/2、ε2/3两组之间无明显差异(P >0.05). 结论 等位基因ε4可能是HCH的一种遗传易感因子,ε3可能对HCH具有保护作用.     

蒙古族Alzheimer病患者载脂蛋白E基因多态性研究

目的探讨载脂蛋白E(ApoE)基因多态性与蒙古族Alzheimer病(AD)的关系。方法用聚合酶链反应及基因测序技术检测106例蒙古族AD患者和100名正常对照者的ApoE基因的基因型和等位基因频率,并进行比较。结果 AD组中有ApoEε4基因型频率(31.1%)显著高于正常对照组(17.0%)(χ2=5.591,P=0.018;OR=2.207,95%CI:1.136～4.289);ε4等位基因的频率显著高于正常对照组(χ2=4.27,P=0.039;OR=1.841,95%CI:1.026～3.304);两组ApoEε2、ε3等位基因频率的差异无统计学意义。结论ApoE基因ε4等位基因可能是蒙古族人群患AD的遗传性危险因素。     

载脂蛋白E基因多态性与血管性痴呆的关系

目的 探讨载脂蛋白E（ApoE)基因多态性与血管性痴呆（VD）的关系。方法 采用PCR－RFLP方法对VD组47例，脑梗死组（CI）46例，正常对照组60人进行ApoE基因型测定。结果 VD组，CI组与正常对照组ApoE基因型频率分布，以3／3型所占比率最高。VD组4／3占第2位（27．7％），与正常对照组（18．33％）比较有显著差异（P＜0．05）。各组ApoE等位基因频率比较，VD组ApoEε4高于对照组（P＜0．05）。C1组与正常对照组之间ApoE基因型频率及等位基因频率比较无显著差异。结论 ApoEε4等位基因可能是VD发生的遗传危险因素这一。本研究不支持ApoEε4等位基因可以增加发生CI的危险性。     

血管性危险因子与Alzheimer病痴呆进展的相关性研究

目的研究血管性危险因子载脂蛋白E(ApoE)基因、低密度脂蛋白受体相关蛋白(LRP)基因以及血管紧张素转换酶(ACE)基因与Alzheimer病(AD)痴呆进展恶化之间的相关性。方法应用简易精神状态检查表(MMSE)和痴呆严重程度临床评定量表(CDR),对78例晚发性AD患者进行为期2年的随访研究,并应用多聚酶链反应-限制性片段长度多态性(PCR-RFLP)技术或直接通过PCR方法,分析这些患者ApoE、LRP与ACE基因型。结果(1)ApoE基因ε4等位基因和ApoEε4携带者与AD痴呆进展恶化之间在统计学上均有显著性关联(P<0.05);(2)非恶化组ApoE基因ε3等位基因频率比恶化组增多(P<0.05);(3)ACE基因I等位基因频率在两组之间差异显著(P<0.05);(4)LRP基因的等位基因频率在两组之间无显著性差异(P>0.05)。结论ApoEε4等位基因可能是AD进展恶化的遗传危险因子,ApoEε3等位基因则可能有保护效应;ACE I等位基因亦可能是AD进展恶化的遗传危险因子。     

Fibrous xanthomas and xanthosarcomas of the meninges and the brain

Summary Three cases of intracranial fibrous xanthomas and a case of multicentric cerebral xanthosarcoma are reported. All three fibrous xanthomas developed in the temporal area of boys in their early teens, one was within the leptomeninges (without dural attachment), the other two involved meninges and the superficial portions of the temporal lobe itself. These tumors were characterized by mono- and multinucleated cells with morphological features of histiocytes, Touton type giant cells and a storiform pattern in areas of spindleshaped tumor cells.Because of cellular atypism, giant cells and mitotic figures such tumors may suggest the diagnosis of glioblastoma multiforme but the absence of glial fibers, negative Cajal impregnation, presence of reticulin fibers in close proximity to tumor cells and the morphological similarity to the bizarre cells found in atypical xanthofibromas of the skin and soft tissues help to establish the diagnosis. Since the menigeal forms are probably derived from local meningeal mesenchyme, occasional abortive whorls and pseudopsammoma bodies may be encountered, the overall picture, however, is very different from meningiomas. Two patients had a 2.5 and a 12 year long symptomfree survival, respectively. The third boy had a local recurrence 14 months after initial removal which was excised and the patient is presently doing well.The xanthosarcoma first developed in the right frontal lobe of a 26 year old woman. This tumor was almost exclusively made up of various sized anaplastic cells filled with birefringent lipids. It is suggested that this tumor which had a diffuse network of reticulin, had originated from primitive adventitial cells. It was histologically more malignant than the first three and the patient died within a year after removal of the frontal lobe tumor, from a second mass in the cerebellum. The relationship of this tumor to glioblastomas and to other types of giant cell sarcomas is discussed.This paper was presented in part at the 6th International Congress of Neuropathology in Paris, France, on August 31, 1970.     

Alz-50 immunoreactivity in the hypothalamus of the normal and Alzheimer human and the rat

Alz-50 is a monoclonal antibody recognizing a 68 kilodalton protein that is abundant in Alzheimer's disease (AD) but not detectable by immunoblotting methods in normal brains. When used for immunohistochemistry in AD cortex, Alz-50 recognizes large numbers of neurofibrillary tangles (NFT), neuritic plaques, and some neurons that show no evidence of neurofibrillary degeneration by conventional histopathological staining methods. Alz-50 immunoreactivity is described at the light and electron microscopic levels in the hypothalamus of brains obtained at autopsy from normal and AD subjects. Alz-50 immunoreactivity in the rat hypothalamus is also described. A well-defined population of Alz-50 immunoreactive hypothalamic neurons was identified in both the normal human and rat. At the light microscopic level in the normal human, immunoreactive neurons were most concentrated in the periventricular region, but were also scattered throughout the arcuate nucleus (ARC), lateral hypothalamic area, and tuberal region. Immunoreactive fibers were seen in the periventricular region, dorsal division of the ventromedial nucleus (VMNd), ARC, and external layer of the median eminence (ME). In the rat, reactive neurons were seen only in the periventricular region, and reactive fibers were seen in the periventricular zone, medial preoptic nuclear complex, suprachiasmatic nucleus, VMNd, ARC, and external layer of the ME. Ultrastructurally, all immunoreactivity in the normal human and rat hypothalamus was associated with intraneuronal vesicles. In the AD hypothalamus, Alz-50 identified numerous senile plaques and NFT in addition to the cells and fibers that were stained in the normal brains. Immunoreactive plaques and NFT were most numerous in regions previously reported to undergo neurofibrillary degeneration. At the ultrastructural level, the immunoreactivity in the AD hypothalamus was associated with filaments as well as vesicles. The significance of the selective staining of a specific population of vesicles by Alz-50 is unknown; however, the present results suggest that it is independent of AD pathology.     

Spinal projections of the locus coeruleus and the nucleus subcoeruleus in the Harlan and the Sasco Sprague-Dawley rat

The descending projections of the locus coeruleus (LC) and the nucleus subcoeruleus (SC) to the lumbar spinal cord were examined in rats from two vendors using retrograde transport of fluorescent latex beads. There was a vendor difference observed which agrees with previous findings. The differential dorsal horn and ventral horn projections of the Harlan and the Sasco Sprague-Dawley rats, reported by Fritschy and Grzanna, and Clark and Proudfit were confirmed. In the Harlan rat more cells were labeled in the LC following injections in the dorsal horn. In contrast, in the Sasco rat, more cells were labeled in the LC from injections in the ventral horn. Although, in all studies, the LC in rats from these vendors projected to some extent to both the dorsal and the ventral horn. A difference in labeling was noted also for the depth of placement of the tracer in the dorsal horn. When the site of injection was in the nucleus proprius, a predominately contralateral projection of the LC was noted. In contrast, when horseradish peroxidase (HRP) gel implants were placed to include the superficial laminae, the cells in the LC were labeled predominately ipsilaterally. The SC has a major projection to the dorsal horn in the Harlan rats while cells in the SC were predominately labeled following ventral horn injections in the Sasco rats. These cells send mostly ipsilateral projections to the dorsal and ventral horn of the spinal cord. Double labeled studies confirmed that 91% of LC and 86% of SC neurons projecting to the spinal cord were noradrenergic. The present results confirmed a difference in the descending catecholamine projections of rats purchased from different vendors. These strain differences may prove useful in studies of motor and sensory systems.     

Investigating the construct validity of the SPAI-C: comparing the sensitivity and specificity of the SPAI-C and the SAS-A

Investigates the construct validity of the Social Phobia and Anxiety Inventory for Children (SPAI-C) by comparing its sensitivity and specificity with another self-report measure of social anxiety, the Social Anxiety Scale for Adolescents (SAS-A). Participants were 252 adolescents (124 males and 128 females) 13-17 years old. Adolescents completed the SPAI-C and the SAS-A and were interviewed using the Anxiety Disorders Interview Schedule for DSM-IV: Child Version (ADIS-IV:C). Parents were also interviewed and composite diagnoses were formed. Youth were classified as socially phobic or non-anxious based on these composite diagnoses. By comparing clinical cutoff scores with diagnostic group classification, the sensitivity and the specificity of the SPAI-C and SAS-A were compared. Results indicated that the SPAI-C was a more sensitive measure than the SAS-A (61.5% vs. 43.6%) providing evidence of the scale's construct validity. The two measures were similar with regard to specificity (82.7% for both). Implications of these results for assessment and research are discussed.