翼点入路鞍区手术上抬额叶对鞍区显露面积的影响

目的：探讨翼点入路不同上抬额叶高度对鞍区显露面积的影响。方法：5具成人头颅湿性标本模拟典型的翼点入路,分别测量额叶上抬0．5cm、1．0cm、1．5cm下鞍区手术间隙Ⅰ～Ⅳ的显露面积。结果：0．5cm、1．0cm、1．5cm各组间显露面积差异均有显著性（P〈O．005）。结论：对于鞍区手术,翼点入路上抬额叶可以显著影响鞍区手术显露。     

肢带型肌营养不良2B型与多发性肌炎的临床及病理鉴别诊断

Objective To diagnose and differentially diagnose limb-girdle muscular dystrophy type 2B(LGMD2B)and polymyositis (PM) based on clinical and pathological characteristics. Methods Muscle biopsics were obtained from 8 patients suspected with LGMD2B who were initially diagnosed with PM.The clinical and pathological data from 8 cases of LGMD2B and 4 cases of PM by using histo-and immunohistochemistry with anti-dysferlin,dystrophins,sarcoglycans,MHC-Ⅰ,CD8 monoclonal antibodies were compared.Results (1) LGMD2B and PM shared similar pathological presentations including muscle fibet degeneration and necrosis in various degree,proliferation of connective tissue,and inflammatory cell infiltration.Normal stains of dystrophins and sarcoglycans were observed.whereas absent or very faint staining of dysfedin observed in muscle biopsies of 8 patients confirmed the diagnosis of LGMD2B.while normal stains of dysferlin on sarcolemma were observed in the 4 cases of PM.MHC-Ⅰ was weakly expressed or absent in LGMD2B.while strongly expressed on sarcolemma in PM and the infiltration area of inflammation cells.The expression of CD8 on a few inflammatory cells were positive in LGMD2B.while some inflammatory cells were positive in PM.(2)Both LGMD2B and PM shared similar presentation,including proximal muscle weakness,remarkable elevation of CK,myopathic changes in electromyography.Patients with LGMD2B did not complain of apparent muscle pain.and their erythrocyte sedimentation rate and Creactive protein were in normal range.which could be used as marker to differentiate from patients with PM.Conclusions Clinically and pathologically LGMD2B and PM are presented similarly and likely to be misdiagnosed.The absence of dysferlin in LGMD2B and high expression of MHC-Ⅰ and CD8 in PM are the key index of the diagnosis and differential diagnosis between LGMD2B and PM.     

外伤后脑梗塞22例临床分析

1998年1月至2005年12月，我科治外伤性脑梗塞22例,现报告如下。     

进行性肌营养不良的分子生物学诊断现状

进行性肌营养不良（progressive muscular dystrophy，PMD）是以进行性加重肌力低下及肌萎缩为主要临床表现的一组遗传性疾病的总称。分子生物学技术使该组疾病的责任基因、编码蛋白、发病机制被逐步认识。由于临床症状、实验室检查、肌电图及骨骼肌组化染色病理表现相似，需要借助免疫组织化学染色、Western印迹、聚合酶链反应（PCR）或基因测序，在蛋白或基因水平进一步分型诊断。本文对各型PMD分子生物学诊断现状归纳如下。     

逐层匀场技术弥散加权成像评价膀胱癌

目的 对比基于逐层匀场技术弥散加权成像（iShim-DWI）与常规弥散加权成像（DWI）图像质量,评估iShim-DWI对膀胱癌的应用价值。方法 回顾性分析70例经手术病理证实的膀胱癌患者,依据TNM分期将其分为肌层浸润性膀胱癌（MIBC）组（n=34）和非肌层浸润性膀胱癌（NMIBC）组（n=36）,根据术后病理分级分为低级别尿路上皮癌组（n=38）和高级别尿路上皮癌组（n=32）。观察常规DWI和iShim-DWI图像质量的差异。测量iShim-DWI病灶表观弥散系数（ADC）,比较NMIBC组与MIBC组、高、低级别尿路上皮癌组ADC差异。以受试者工作特征（ROC）曲线评估ADC鉴别膀胱癌肌层浸润及高、低级别膀胱癌和T2WI、传统DWI及iShim-DWI诊断膀胱癌肌层浸润的效能。结果 2名医师对iShim-DWI图像的主观评分均高于传统DWI（P均<0.01）。NMIBC组ADC[1.12（1.06,1.18）×10^－3 mm²/s]大于MIBC组[0.81（0.75,0.83）×10^－3 mm²/s,Z=－6.79,P<0.01],ADC鉴别MIBC与NMIBC的AUC为0.97;低级别尿路上皮癌组ADC[1.13（1.06,1.17）×10^－3 mm²/s]大于高级别尿路上皮癌组[0.80（0.74,0.82）×10^－3 mm²/s,Z=－6.79,P<0.01],AUC为0.99。基于T2WI+常规DWI诊断膀胱癌肌层浸润的AUC均低于T2WI+iShim-DWI（P均<0.05）。结论 iShim-DWI有助于评估膀胱癌病理分级及肌层浸润,且图像质量优于常规DWI。     

磁共振全身弥散加权成像及辅助扫描序列应用分析

目的分析磁共振全身弥散成像及SPACE序列成像原理和影响因素,从而得到质量更佳的扫描图像。方法对45例进行磁共振全身弥散成像的受检者成像图像从扫描技术角度进行分析。结果45例WB—DWI图像均能满足诊断要求,但图像信噪比不及SPACE序列。其中11例体形较瘦及颈部生理弯曲较大者DWI图像颈肩部伪影多;5例体形较胖者DWI图像双上肢处伪影多;15例受检者胸腹段之间存在一定的信号强度差异。结论WB—DWI临床应用越来越重要,只有充分了解其成像过程中的影响因素并加以克服,再结合SPACE图像进行诊断分析,才能避免假阳性发生,提高诊断的准确性。     

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.     

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].