Missense mutations and evolutionary conserved amino acids at the human hypoxanthine phosphoribosyl-transferase locus.

Molecular characterization of in vivo mutation at the human hypoxanthine phosphoribosyltransferase (hprt) locus has revealed a broad spectrum of mutation, both with regard to germ-line mutation in Lesch-Nyhan and gout patients, and somatic mutation in 6-thioguanine resistant T-lymphocytes from healthy individuals. The pattern of missense mutation shows a non-random distribution with a preferential location to codons for amino acids which are identical in human and the two parasites Schistosoma mansoni and Plasmodium falciparum. Although these 'evolutionary conserved' amino acids account for only 32% of the amino acids in the human hprt protein, they are involved in 76% of the missense mutations at the hprt locus in human T-lymphocytes, 67% in Lesch-Nyhan patients (with severe hprt-deficiency), but only 43% in gout patients (with partial hprt deficiency). This observation supports the notion that evolutionary conserved amino acids constitute functionally important sites in the hprt enzyme, and missense mutations affecting these amino acids will often lead to complete loss of enzyme activity. Substitutions of 'non-conserved' amino acids cause less severe hprt-deficiency (as seen in the gout patients), or may even escape clinical diagnosis. These considerations are important for the understanding of structure-activity relationships in the hprt protein, possible differences between hprt mutational spectra in germ-line and somatic cells, and the mutational spectra induced by specific exogeneous mutagens.     

缝-脊5-羟色胺痛调制系统的形态学鉴定

<正> 在内源性痛调制系统中,中缝大核(NRM)及邻近结构的神经元轴突行向脊髓后角,其释放的5-羟色胺(5-HT)可能对后角内痛敏神经元,中间神经元以及初级传入     

恐惧应激对大鼠睾丸中Annexin5表达的影响

目的观察大鼠应激条件下睾丸组织中Annexin5表达的变化。方法建立SD大鼠的恐惧应激模型，分别取急性应激、急性对照、慢性应激、慢性对照SD大鼠睾丸，免疫组织化学和Western blotting分析Annexin5免疫定位和蛋白表达。结果急性应激组与对照组相比，免疫组化显示Annexin5都定位在间质细胞、支持细胞和成熟的精子头部，Western blotting分析发现Annexin5的表达降低了10．8％；慢性应激组与对照组相比，免疫组化结果显示Annexin5在精子头部的定位逐渐减少，应激1w和2w组，未见到Annexin5定位于精子头部，到了应激的3w和4w，发现Annexin5重新定位于精子的头部，而在间质细胞和支持细胞上的定位模式没有显著变化。Western blotting分析发现Annexin5的表达降低了17．4％。结论大鼠睾丸Annexin5参与了应激过程，急性应激条件下Annexin5表达降低。随着应激时间的延长，在慢性应激条件下，Annexin5的表达由减少之后而开始有缓慢增加。     

69例睾丸扭转诊断与治疗

目的提高睾丸扭转诊断及治疗水平。方法对69例睾丸扭转患者的临床资料进行回顾性分析。结果8例12h内手术者，睾丸均存活；6例12—24h手术者，3例睾丸存活；39例超过24h手术者仅7例睾丸存活。未手术者16例，随访7例扭转睾丸均发生不同程度萎缩，尚未发现生育能力受影响者。结论早期诊断、及时治疗是提高疗效的关键。睾丸移植是治疗双侧睾丸扭转后功能性无睾症的一种有效方法。     

术中磁共振影像神经导航治疗脑胶质瘤的临床初步应用(附61例分析)

目的总结术中磁共振影像(iMRI)神经导航手术治疗脑胶质瘤的初步经验。方法2006年3月～2006年12月,61例脑胶质瘤病人接受iMRI神经导航手术。结果手术总耗时2.5～8.5 h,平均(5.2±1.5)h。图像质量良好49例(80.3%),一般7例(11.5%),差5例(8.2%)。56例图像质量优良的病人中,iMRI扫描次数2～5次,平均(2.6±0.8)次;其中2次32例,3次16例,4次5例,5次3例;24例(42.9%)经iMRI发现肿瘤切除范围未达术前计划,仍需进一步切除。无iMRI相关不良事件发生。结论iMRI神经导航手术治疗脑胶质瘤安全、有效,可实时纠正术中脑移位误差,精确定位脑胶质瘤的影像学边界,定量评估手术切除范围,有效提高肿瘤切除率。     

A case-controlled study of altered visual art production in Alzheimer's and FTLD.

OBJECTIVE: To characterize dementia-induced changes in visual art production. BACKGROUND: Although case studies show altered visual artistic production in some patients with neurodegenerative disease, no case-controlled studies have quantified this phenomenon across groups of patients. METHOD: Forty-nine subjects [18 Alzheimer disease, 9 frontotemporal dementia (FTD), 9 semantic dementia (SD), 15 healthy older controls (NC)] underwent formal neuropsychologic testing of visuospatial, perceptual, and creative functioning, and produced 4 drawings. Subjective elements of drawings were rated by an expert panel that was blind to diagnosis. RESULTS: Despite equal performance on standard visuospatial tests, dementia groups produced distinct patterns of artistic features that were significantly different from NCs. FTDs used more disordered composition and less active mark-making (P<0.05). Both FTDs and SDs drawings were rated as more bizarre and demonstrated more facial distortion than NCs (P<0.05). Also, SDs drastically failed a standardized test of divergent creativity. Alzheimer disease artwork was more similar to controls than to FTDs or SDs, but showed a more muted color palette (P<0.05) and trends toward including fewer details, less ordered compositions, and occasional facial distortion. CONCLUSIONS: These group differences in artistic style likely resulted from disease-specific focal neurodegeneration, and elucidate the contributions of particular brain regions to the production of visual art.     

柯萨奇病毒诱发实验性多发性肌炎的初步研究

分别用不同量的柯萨奇病毒Ｂ１、２、３感染和兔肌匀浆加完全弗氏佐剂免疫正常豚鼠；拟建立多发性肌炎模型。结果发现：０．１ｍｌ毒力为１０－５ＴＣＩＤ５０柯萨奇病毒Ｂ１感染豚鼠组，３周后出现多发性肌炎症状。肌酶谱异常与其它组有明显差异，病理检查证实为多发性肌炎改变。单纯兔肌匀浆免疫对照组未发病。提示柯萨奇病毒Ｂ１感染及感染的病毒量与多发性肌炎的发病相关     

阿霉素不同剂量静脉注射的药动学及其临床意义

采用ＨＰＬＣ法测定１４例肿瘤患者使用不同剂量阿霉素的血药浓度，并计算药代参数。４０ｍｇ／ｍ２和２５ｍｇ／ｍ２两组的血药峰浓度、ＡＵＣ、Ｖｃ差异有显著性。阿霉素的药代动力学存在明显的个体差异，血药峰浓度、Ｖｃ、Ｋ１２与疗效相关。     

合肥工业大学高级知识分子糖尿病调查分析

目的　了解我校高级知识分子糖尿病患病情况及分析影响患病的相关因素。方法　采用流行病学统计方法分析数据。结果　糖尿病患病率为 17.78%,高于 1980年全国和 1995年全省患病率水平。患病率随年龄增长而增高 ,70岁以上为高峰 ,男女性别间患病率无差异。结论　糖尿病与高血压、高脂血症和肥胖有密切相关 ,应制定相应糖尿病防治措施。