进行性脑灰质萎缩(Alper病)--附一家系4例报告

一家系4兄妹,3人均在6～8岁发生腹泻、抽搐.16～20岁出现亚急性头痛、失明、皮层盲、抽搐发作、智能衰退,进行性加重6～8个月因衰竭而死亡.头颅CT扫描显示,双侧枕、颞叶低密度病变;大脑病理学特点为全脑灰质层状神经细胞变性脱失、星形细胞增生,呈海绵状脑灰质萎缩,但白质受累较轻,不累及基底节、丘脑、脑干和小脑.1例存活者,临床检查身材矮小,弓形足,左侧轮替指鼻试验反应差;肌肉活组织检查可见大量不整红边纤维和异常线粒体.根据临床神经病理学特点该病症属于进行性脑灰质萎缩Alper病;而肌肉病理学特征则归于线粒体脑肌病.推测晚发型Alper病可能是线粒体脑肌病的一种类型.     

新生儿缺氧缺血性脑病90例CT分析

目的 分析新生儿缺氧缺血性脑病(HIE)的CT表现特点.方法 总结90例CT扫描HIE患儿,天龄1h～15d不等,其中15例进行了随访.结果 额枕叶及脑室周围白质缺血灶最常见,严重者致整个大脑半球弥漫性水肿并可伴SDH、SAH、IVH、ICH等,但其突出的影像学特点为脑基底节、脑干及小脑很少受累.结论 由于新生儿脑血管结构及功能不成熟,脑病缺氧很容易影响脑细胞正常功能.再者新生儿脑血流供应在各部很不平衡.血流最少的部分在旁矢状区,其次皮质下血流也较少,而脑灰质及脑干核结构较其他部位多5～10倍,从而形成HIE的特有CT表现.并注意与正常低密度影的鉴别.     

大鼠脑缺血再灌注早期JNK1/2在远隔器官的表达

目的评价大鼠局灶性脑缺血再灌注早期远隔器官小脑、延髓的形态学改变及c-Jun氨基末端激酶(JNK)的表达。方法将40只健康雄性SD大鼠随机分为四组:假手术组及脑缺血再灌注1d、1.5d、3d组,采用右侧大脑中动脉阻塞(MCAO)模型,观察神经功能缺损程度、小脑和延髓形态学改变及JNK1/2表达情况。结果假手术组大鼠未见神经功能受损;脑缺血再灌注各组大鼠神经功能不同程度受损。苏木精-伊红染色显示假手术组大鼠小脑、延髓组织细胞结构完整,未见明显破坏;脑缺血再灌注各组小脑、延髓细胞出现核浓染、核固缩、排列顺序紊乱。假手术组小脑及延髓JNK1/2蛋白表达很弱,脑缺血再灌注各组JNK1/2表达水平均明显高于假手术组(P<0.05)。结论 JNK1/2可能参与了脑缺血再灌注损伤诱导的远隔器官损害。     

IL-β转化酶在脑缺血再灌注损伤时细胞死亡中的作用

目的 认识白介素－1β转化酶（ICE）在脑缺血再灌注损伤中表达及在细胞凋亡中的作用。方法 通过阻塞大鼠双侧颈总动脉和椎动脉建立全脑缺血模型，使用免疫细胞化学、核酸分子原位杂交技术和原位末端标记，观察了ICE蛋白和基因表达变化、脑缺血后细胞凋亡的发生以及ICE基因表达与细胞凋亡的关系。结果 ICE基因在神经元内及小胶质细胞均有表达，分布在大脑皮层、小脑蒲肯野细胞、海马及皮层下白质。在缺血再灌注12h后ICE基因表达增加，48－72h为表达高峰，7d表达下降。细胞凋亡在缺血再灌注12h出现，高峰时间也在48－72h，且ICE的表达在分布上与神经细胞凋亡的发生有显著相关性。结论 结果提示ICE在脑缺血再灌注中表达增加，可能参与神经细胞凋亡的调节。ββββ     

神经节苷脂治疗新生儿缺氧缺血性脑病的临床疗效观察

目的 观察神经节苷脂(GMI)注射液治疗新生儿缺氧缺血性脑病(HIE)的临床疗效.方法 收治114例新生儿缺氧缺血性脑病(HIE),随机分成治疗组和对照组2组.治疗组在综合治疗基础上,生后24h应用GMI 20mg加入10%葡萄糖100ml静滴,1次/d,轻中度7～10d,重度14d;对照组常规治疗基础上,病情相对稳定后应用胞二磷胆碱0.125g,1次/d.通过比较患儿临床症状恢复,特别临床神经的恢复及新生儿行为神经评分来判断药物疗效.结果 神经节苷脂和胞二磷胆碱治疗新生儿HIE的疗效差异无明显性意义(P＞0.05),均能在7～10d使神经症状恢复正常,在生后2周NBNA评分绝大多数在正常范围内.结论 早期应用GMI治疗新生儿HIE有良好疗效.     

骨髓基质细胞源神经干细胞对大鼠局灶性脑缺血神经细胞凋亡及相关蛋白表达的动态影响

目的探讨骨髓基质细胞源神经干细胞对大鼠局灶性脑缺血神经细胞凋亡及相关蛋白表达的影响。方法建立大鼠大脑中动脉缺血再灌注模型。32只健康Sprague-Dawley(SD)大鼠分为假手术组、缺血对照组、缺血骨髓基质细胞移植组和缺血骨髓基质细胞源神经干细胞移植组。分别在移植后7d和14d行脑灌注固定取材,应用免疫组化染色及原位细胞凋亡检测脑组织Bcl-2、Bax蛋白表达及凋亡细胞数。结果缺血移植组各时点的凋亡细胞数均少于缺血对照组(P<0.01),缺血移植14d组凋亡细胞数明显少于缺血移植7d组(P<0.01),骨髓基质细胞源神经干细胞移植组凋亡细胞明显少于骨髓基质细胞移植组(P<0.05)。缺血移植组Bcl-2表达显著高于缺血对照组(P<0.01)。缺血移植组Bax蛋白表达明显低于缺血对照组(P<0.01)。结论骨髓基质细胞源神经干细胞可能通过上调Bcl-2蛋白表达,下调Bax蛋白表达,对脑缺血再灌注损伤起保护作用。     

新生儿缺氧缺血性脑病急性期的护理

新生儿缺氧缺血性脑病(HIE)是指围产期缺氧窒息,导致脑的缺氧缺血性损害,包括特征性的神经病理及病理生理改变,并在临床上出现一系列脑病的表现,部分病例可留有不同程度神经系统后遗症[1].我科2004-10～2006-03收治56例HIE患儿,加强急性期护理,效果满意,总结如下.     

进行性脑灰质萎缩（Alper病）_附一家系4例报告

一家系4兄妹，3人均的6-8岁发生腹泻、抽搐。16-20岁出现亚急性头痛、失明、皮层盲、抽搐发作、智能衰退，进行性加重6-8个月因衰竭而死亡。头颅CT扫描显示，双侧枕、颞叶低密度病变；大脑病理学特点为全脑灰质层状神经细胞变性脱失、星形细胞增生，呈海绵状脑灰质萎缩，但白质受累较轻，不累及基底节、丘脑、脑干和小脑。1例存活，临床检查：身材矮小，弓形足，左侧轮替指鼻试验反应差；肌肉活组织检查可见大量不整红边纤维和异常线粒体。根据临床神经病理学特点该病症属于进行性脑灰质萎缩Alper病；而肌肉病理学特征则归于线粒体脑肌病。推测晚发型Alper病可能是线粒体脑肌病的一种类型。     

足月新生儿缺氧缺血性脑病患儿与正常儿颅脑CT对比

目的比较足月新生儿缺氧缺血性脑病患儿与正常儿颅脑CT表现。方法抽取我院2013-01—2015-01确诊的50例足月新生儿缺氧缺血性脑病患儿为研究组,选择同期50例正常儿为对照组,均行CT扫描,比较2组CT扫描结果。结果研究组脑白质及脑灰质CT值分别为(25.6±3.4)HU、(26.0±3.8)HU,均显著低于对照组的(30.5±3.3)HU、(30.8±3.7)HU,差异有统计学意义(P0.01)。重度HIE患儿基底节、脑白质及脑灰质CT值分别均明显低于轻度、中度组,差异有统计学意义(P0.05)。结论 CT能正确显示足月新生儿缺氧缺血性脑病病变位置及其密度,对疾病严重程度判断、预后评估有重要意义。     

Xbp-1基因重组神经干细胞移植对大鼠局灶脑缺血再灌注损伤的影响

背景：将转染Xbp-1基因的神经干细胞移植至脑损伤病变部位,不但确保了Xbp-1基因的稳定及持续表达发挥抗凋亡的作用,也可促进移植后神经干细胞的存活与分化能力。 目的：验证Xbp-1基因对移植大鼠脑缺血损伤处神经干细胞的分布、分化、抗凋亡作用及神经功能恢复的影响。 方法：选取成年SD大鼠采用线栓法建立大脑中动脉阻塞模型,并随机分成4组干预：对照组(不作处理)、PBS移植组、神经干细胞移植组、Xbp-1-神经干细胞移植组。于干预后7,14,28 d进行NSS评分,并取脑制备组织切片,免疫荧光染色观察神经干细胞在脑内的存活与分布情况。移植后第28天使用TUNEL染色检测缺血区域神经细胞凋亡情况,Western blot检测Bcl-2表达水平。 结果与结论：移植后7,14,28d Xbp-1-神经干细胞移植组NSS评分显著低于其他3组(P < 0.05);神经干细胞可以成功迁徙到脑缺血区域并成活、分化为成熟神经细胞,Xbp-1基因修饰后的神经干细胞成活、增殖以及分化能力均强于普通神经干细胞(P < 0.05);与其他3组比较,Xbp-1-神经干细胞移植组脑缺血区域神经细胞凋亡数量明显减少,Bcl-2水平升高 (P < 0.05)。证实了Xbp-1基因修饰可以增加神经干细胞存活、迁徙能力,并通过抗内质网应激显著降低移植后大鼠缺血模型的NSS评分,促进其神经功能恢复。     

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.     

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.     

Alzheimer's disease and the pivotal role of the hypothalamus and the intrinsic opioid system

Although the "cholinergic hypothesis" of the pathophysiology of Alzheimer's disease has received great attention during the past years, it has recently come under increasing criticism specifically owing to failure of therapeutic endeavors based on this premise. As the potential broad role of the intrinsic opioids in the neurochemical modulation of diverse brain functions emerges, the realization that these data may be reconciled to a unifying hypothesis underlying the nature of some chronic dementing diseases (including Alzheimer's disease, Korsakoff disease and Parkinson's disease) occurs. Certain specific characteristics of the known pathologic changes and neurotransmitter deficits of Alzheimer's disease may be explained based on an early vulnerability of the hypothalamus combined with derangements of endorphinergic functions which follow. The latter may be implicated in the subsequent degeneration of structures receiving projections from the arcuate nucleus of the hypothalamus. This is based on the known role of endorphins in the modulation of central neurotransmitters and specifically acetylcholine activity. In addition, the reciprocal neuroendocrine and neuroimmunologic interactions mediated through the hypothalamus, may be of further importance in the evolution of Alzheimer's disease.