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。     

经皮穿刺腰椎间盘切吸术治疗腰椎间盘突出症的远期疗效

目的 观察X线电视引导下经皮穿刺腰椎间盘切吸术治疗腰椎间盘突出症的远期疗效。方法 32例经CT扫描证实的腰椎间盘突出症患者，其中，膨出型29例，游离型2例，以及突出型1例，均经X线电视引导下经皮穿刺腰椎间盘切吸术治疗，术后均经随访0.5～11.0a。结果 术后1周～3个月，32例中的24例临床症状与体征得到有效控制或明显减轻，随访5～11a观察表明，症状完全消失和明显减轻者分别见于23例和6例，总有效率90.6%，预后极好和较好者均见于膨出型腰椎间盘突出症患者。结论 游离型和突出型腰椎间盘突出症的疗效均不理想，因此，术前认真选择适应证是获得理想疗效的关键性因素。     

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.     

中国内地城市和香港9～18岁学生心肺耐力及肌肉素质的比较研究

为了比较中国内地城市和香港青少年儿童的心肺耐力和肌肉素质，对两地的青少年儿童体质调查数据进行了比较研究。结果发现：内地各年龄组男女生的心肺耐力均优于香港同龄者；香港青少年儿童的肌肉素质除立定跳远外，其他项目的成绩均弱于内地青少年儿童。提示：随着生活水平的提高，应重视青少年儿童对体育活动的参与。     

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。