运动神经元病临床与骨骼肌病理112例诊断分析

目的探讨骨骼肌病理对运动神经元病诊断与鉴别诊断的价值。方法收集112例运动神经元病患者的临床、神经电生理及活检骨骼肌病理资料,进行诊断与鉴别诊断分析。结果①入选患者均有肢体无力、肌萎缩,吞咽或呼吸肌无力43例,舌肌萎缩或纤颤50例,伴有肌束震颤69例,初诊伴有上运动神经元受损征78例;②肌电图呈神经源性异常;③临床确诊肌萎缩侧索硬化(ALS)90例(初诊78例、复诊/随访后12例),脊髓性肌萎缩症(SMA)22例,其中肯尼迪病7例;④骨骼肌病理均符合神经源肌病改变,ALS多见小角化肌纤维、核聚集、靶纤维;成人型SMA以小圆形肌纤维在肌束内小群分布为特点,其中肯尼迪病萎缩小圆形肌纤维、核聚集多在肌束间分布。结论①仅表现下运动神经元受累的MND,行骨骼肌活检病理分析有助ALS与SMA的诊断与鉴别诊断;②随诊、动态观察体征与病情进展变化可助ALS确诊。     

连枷臂综合征临床与病理分析

目的研究连枷臂综合征(FAS)的临床和病理特点。方法回顾性收集整理90例肌萎缩侧索硬化患者的临床资料,从中筛选出FAS患者,并总结分析其临床表现、实验室检查、电生理及活检骨骼肌病理特点。结果 90例肌萎缩侧索硬化患者中有8例为连枷臂综合征。连枷臂综合征患者主要临床特征为对称性双上肢肌无力和肌萎缩;血肌酸激酶正常或轻中度升高;肌电图显示脊髓4个节段中3个或以上支配区出现纤颤、正相波,动作单位电位增宽、增高。活检骨骼肌主要病理表现为小角化肌纤维、肌原纤维网紊乱、"靶纤维"。结论连枷臂综合征是肌萎缩侧索硬化的临床变异型,电生理检查能发现亚临床脊髓受累,有助于连枷臂综合征的诊断和鉴别诊断。     

PCR检测鼠疫菌种中F1抗原基因

目的应用PCR检测试验用EV菌株是否存在caf1基因。方法应用含内部对照PCR技术,以鼠疫菌特异基因caf1合成一对引物,进行PCR实验。结果该试验用EV菌株经PCR扩增,呈现一条与caf1基因分子量相吻合的清晰目的扩增带。结论该试验用EV菌株未缺失产生F1抗原的基因,可以用于提取F1抗原等试验。     

一个常染色体显性遗传Emery-Dreifuss型肌营养不良家系的基因突变分析

目的 探讨一个常染色体显性遗传Emery-Dreifuss型肌营养不良(Emery-Dreifuss muscular dystrophy,EDMD)家系的临床、病理及遗传学特点.方法 收集家系中2例患者(先证者及女儿)的临床资料及骨骼肌标本,行组织化学染色病理分析;收集先证者及家系成员(3代7人)血液DNA标本,采用聚合酶链反应和DNA直接测序方法 对LMNA基因进行突变检测;明确基因变异位点后对家系行单倍型分析.结果 先证者具有典型的EDMD临床表现:关节挛缩、进行性加重的肌无力和肌萎缩、心脏传导异常;骨骼肌活检病理示肌源性合并轻度神经源性改变;2例患者LMNA基因第9外显子发现杂合错义突变1583(C→G)(T528R),表型正常的其他家系成员未发现该突变;单倍型分析显示先证者及女儿具有相同的致病单倍型.结论 报道了中国人常染色体显性遗传EDMD患者的表现型及基因型.     

一个常染色体显性遗传Emery-Dreifuss型肌营养不良家系的基因突变分析

Objective To investigate the clinical, pathological and genetic characteristics in a family with autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD). Methods Clinical data and skeletal muscle specimens were collected from two patients (the proband and her daughter) for pathological analysis. DNA samples of the proband and her family members (7 persons from 3 generations) were obtained for PCR amplification and direct DNA sequencing of the lamin A/C (LMNA) gene. Haplotype analysis was performed after the identification of mutation. Results The proband had typical clinical manifestation of EDMD: joint contracture, progressive muscle weakness and atrophy and cardiac conduction dysfunction. Muscular pathology revealed myopathic changes combined with slight neuropathic changes. A heterozygous missense mutation 1583 (C→G) (T528R) was identified in exon 9 of the LMNA gene in the two patients, but not in other family members. Haplotype analysis indicated that the proband and her daughter shared the same causative haplotype. Conclusion This is the first report of the phenotype and genotype of AD-EDMD in Chinese.     

二例脑白质型Leigh综合征的影像表现

Leigh综合征又称亚急性坏死性脑脊髓病,是由于核基因或线粒体基因异常导致线粒体功能改变而出现的一组疾病综合征,属于线粒体脑肌病范畴,多于婴儿期至学龄期发病.其典型的影像表现为双侧基底节、丘脑及脑干的对称性受累,而脑白质病变则十分罕见.现报道姐弟2例主要表现为脑白质病变的Leigh综合征.     

肌聚糖病二例临床及病理分析

肢带型肌营养不良(LGMD)是一组进行性加重腰带肌、叫肢近端肌无力、萎缩的遗传性肌病.依据致病基冈不同分为19个亚型.肌聚糖蛋白是肌纤维膜蛋白复合体,其亚基蛋白肌聚糖蛋白-γ、α、β、δ缺陷相应导致的LGMD,统称为肌聚糖病(sarcoglycanopathy)[1].     

特发性炎性肌病分型诊断标准的比较分析

目的 评价Bohan/Peter标准(B/P标准)与欧洲神经肌肉疾病中心(ENMC)标准对特发性炎性肌病分型诊断皮肌炎和多发性肌炎的准确性.方法 回顾性收集86例初诊为特发性炎性肌病患者的临床、实验室及骨骼肌病理资料,分别用B/P标准与ENMC标准进行分型诊断,比较两个标准诊断皮肌炎和多发性肌炎的异同性.数据分析采用SPSS 13.0软件系统进行非参数检验(Mann Whitney U检验)和一致性检验(Kappa分析)方法.结果 B/P标准诊断皮肌炎37例,多发性肌炎49例;ENMC标准诊断皮肌炎46例,多发性肌炎仅14例,其余为嗜酸细胞性肌炎1例、疑诊散发性包涵体肌炎9例,未能分型者5例,肢带型肌营养不良2B型11例.Kappa分析检验两个标准诊断皮肌炎一致性较好(κ=0.79),诊断多发性肌炎一致性差(κ=0.26).结论 B/P标准对多发性肌炎存在过度诊断、误诊风险.ENMC标准纳入免疫病理,增加了临床与病理诊断的排除标准,其分型诊断准确性优于B/P标准.     

荧光定量PCR方法检测鼠疫耶尔森氏菌研究进展

鼠疫是由鼠疫耶尔森氏菌引起的一种严重危害人类健康的烈性传染病。鼠疫菌为短小的、无芽孢的革兰氏阴性杆菌,属于耶尔森氏菌属。目前我国诊断鼠疫的方法主要包括常规的"四步检验法"和血清学方法,如间接血凝试验(IHA),反向间接血凝试验(RIHA),酶联免疫吸附试验(ELISA),但方法对鼠疫     

一个常染色体显性遗传Emery-Dreifuss型肌营养不良家系的基因突变分析

Objective To investigate the clinical, pathological and genetic characteristics in a family with autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD). Methods Clinical data and skeletal muscle specimens were collected from two patients (the proband and her daughter) for pathological analysis. DNA samples of the proband and her family members (7 persons from 3 generations) were obtained for PCR amplification and direct DNA sequencing of the lamin A/C (LMNA) gene. Haplotype analysis was performed after the identification of mutation. Results The proband had typical clinical manifestation of EDMD: joint contracture, progressive muscle weakness and atrophy and cardiac conduction dysfunction. Muscular pathology revealed myopathic changes combined with slight neuropathic changes. A heterozygous missense mutation 1583 (C→G) (T528R) was identified in exon 9 of the LMNA gene in the two patients, but not in other family members. Haplotype analysis indicated that the proband and her daughter shared the same causative haplotype. Conclusion This is the first report of the phenotype and genotype of AD-EDMD in Chinese.