Genome-wide scan identified QTLs underlying femoral neck cross-sectional geometry that are novel studied risk factors of osteoporosis.

A genome-wide screen was conducted using a large white sample to identify QTLs for FNCS geometry. We found significant linkage of FNCS parameters to 20q12 and Xq25, plus significant epistatic interactions and sex-specific QTLs influencing FNCS geometry variation. INTRODUCTION: Bone geometry, a highly heritable trait, is a critical component of bone strength that significantly determines osteoporotic fracture risk. Specifically, femoral neck cross-sectional (FNCS) geometry is significantly associated with hip fracture risk as well as genetic factors. However, genetic research in this respect is still in its infancy. MATERIALS AND METHODS: To identify the underlying genomic regions influencing FNCS variables, we performed a remarkably large-scale whole genome linkage scan involving 3998 individuals from 434 pedigrees for four FNCS geometry parameters, namely buckling ratio (BR), cross-sectional area (CSA), cortical thickness (CT), and section modulus (Z). The major statistical approach adopted is the variance component method implemented in SOLAR. RESULTS: Significant linkage evidence (threshold LOD = 3.72 after correction for tests of multiple phenotypes) was found in the regions of 20q12 and Xq25 for CT (LOD = 4.28 and 3.90, respectively). We also identified eight suggestive linkage signals (threshold LOD = 2.31 after correction for multiple tests) for the respective geometry traits. The above findings were supported by principal component linkage analysis. Of them, 20q12 was of particular interest because it was linked to multiple FNCS geometry traits and significantly interacted with five other genomic loci to influence CSA variation. The effects of 20q12 on FNCS geometry were present in both male and female subgroups. Subgroup analysis also revealed the presence of sex-specific quantitative trait loci (QTLs) for FNCS traits in the regions such as 2p14, 3q26, 7q21 and 15q21. CONCLUSIONS: Our findings laid a foundation for further replication and fine-mapping studies as well as for positional and functional candidate gene studies, aiming at eventually finding the causal genetic variants and hidden mechanisms concerning FNCS geometry variation and the associated hip fractures.     

氨氯地平与尼群地平治疗高血压的多中心平行对照研究

采用多中心、随机、单盲、组间、平行对照的方法对488例原发性高血压患者进行氨氯地平或尼群地平4周治疗观察，显示氨氯地平的降压有效率为90．4％，较尼群地平显著为高。不良反应较少，安全性好。每日只需服药1次，剂量5～10mg，方便病人。     

脊神经节神经元周围突至肾及体壁的分支投射

实验将快蓝(FB)和核黄(NY)分别注入大鼠左肾纤维膜下及左体壁神经干内,结果在荧光镜下发现左T_(9-13),L1脊神经后根节(DRG)内存在双标记细胞,提示大鼠T_(9-13),L1段DRG内的部分神经元的周围突分支支配肾及体壁,为肾绞痛所致牵涉痛的解释,提供了神经解剖学基础。     

乳癌根治术后并发臂丛神经损伤

乳癌根治术是治疗乳腺癌的主要手段,但并发臂丛神经损伤的报道却很少,总结从1989年10月～1991年2月华山医院诊治的9例,3例门诊治疗,6例住院治疗。其中5例行神经松解后,皮瓣或肌皮瓣转移覆盖神经瘢痕区。随访到8例,疼痛改善3例,感觉和运动改善2例,疗效不理想,认为寻找预防措施是减少乳癌根治术后臂丛损伤的根本办法。     

3，4－二羟基苯乙酮对家兔缺血－再灌心肌的影响

以超微结构、线粒体形态计量及ＬＤＨ，ＳＯＤ活性为依据，探讨３，４－二羟基苯乙酮（ＤＨＡＰ）对家兔缺血－再灌心肌细胞的影响。结果表明：ＤＨＡＰ组缺血－再灌心肌细胞的损伤、ＬＤＨ丢失及ＳＯＤ活性下降的程度均明显低于未用药组。提示该药物对缺血－再灌心肌有保护作用。     

FasL的表达在结直肠癌免疫逃逸中的意义

目的研究结直肠癌中Fas配体（FasL）的表达及其在结直肠癌免疫逃逸中的意义。方法采用免疫组织化学染色法，检测80例结直肠癌组织中FasL表达及肿瘤浸润淋巴细胞（TIL）的数量。应用原位杂交法，检测80例结直肠癌组织连续切片的FasL的。RNA的表达。采用脱氧核糖核酸末端转移酶介导的缺口末端标记技术（TUNEL），对80例结直肠癌组织中凋亡的TIL及肿瘤细胞进行观察。结果80例结直肠癌组织FasL表达程度不等，不论是在同一组织切片不同部位或两组织切片间相比，FasL表达程度和范围都不均匀。FasL的mRNA的表达部位与FasL蛋白的表达部位相对应。FasL表达程度高的组织的TIL计数低于FasL表达低的组织（P〈0．05），同时其TIL凋亡指数高于FasL表达低的组织，而结直肠癌细胞的凋亡指数低于FasL表达程度低的组织（P〈0．01），TIL凋亡指数与胃癌细胞的凋亡指数呈负相关（r=-0．631，P〈0．01）。结论全占直肠癌细胞可通过表达FasL，诱导TIL发生凋亡，反击机体免疫系统，这可能是结直肠癌免疫逃避的重要机制之一。     

腹腔感染病人引流管的应用

外科引流的概念形成于公元前15世纪,但真正的外科引流是由Hippocrates和Celsus用导管开始的。1859年Chassaignac介绍了软橡皮管的应用,1882 年Kehrer把纱布放在橡皮管内,以避免粘连,即第一根烟卷引流。1895年Kellogg描述了目前的双套管吸引引流的前身。1989年Heaton发现了负压吸引引流或称为“主动引流”。此后,Yates在1905年发表的一篇经典论文中,提出“从物理学和生物学角度看, 引流整个腹腔是不可能的”,目前,这个观点还未受到明显的质疑。     

GGA1 acts as a spatial switch altering amyloid precursor protein trafficking and processing

The beta-amyloid (Abeta) precursor protein (APP) is cleaved sequentially by beta-site of APP-cleaving enzyme (BACE) and gamma-secretase to release the Abeta peptides that accumulate in plaques in Alzheimer's disease (AD). GGA1, a member of the Golgi-localized gamma-ear-containing ARF-binding (GGA) protein family, interacts with BACE and influences its subcellular distribution. We now report that overexpression of GGA1 in cells increased the APP C-terminal fragment resulting from beta-cleavage but surprisingly reduced Abeta. GGA1 confined APP to the Golgi, in which fluorescence resonance energy transfer analyses suggest that the proteins come into close proximity. GGA1 blunted only APP but not notch intracellular domain release. These results suggest that GGA1 prevented APP beta-cleavage products from becoming substrates for gamma-secretase. Direct binding of GGA1 to BACE was not required for these effects, but the integrity of the GAT (GGA1 and TOM) domain of GGA1 was. GGA1 may act as a specific spatial switch influencing APP trafficking and processing, so that APP-GGA1 interactions may have pathophysiological relevance in AD.     

血清前列腺特异性抗原增高的病理基础

对血请前列腺特异性抗原（ＰＳＡ）高于４μｇ／Ｌ，且有病理检查资料的６７例前列腺疾病患者，进行了分析。其中前列腺癌２４例，非癌前列腺病变４３例。结果显示前列腺癌组血清ＰＳＡ明显高于非癌组（Ｐ＜０．０１）。以血清ＰＳＡ１０μｇ／Ｌ为低限值，诊断癌的灵敏性为８３．３％。特异性为７４．４％，认为血请ＰＳＡ４～１０μｇ／Ｌ应视为癌的危险范围。上皮血屏障的破坏和上皮细胞增生是血清ＰＳＡ升高的基础     

深低温储皮后其抗原性改变的免疫学研究

以人皮和豚鼠皮新鲜及－１９６℃冷冻皮片匀浆做为抗原，研制出兔抗人和豚鼠的新鲜及－１９６℃冷冻皮片匀浆的可溶性蛋白高效价的免疫血清，并通过免疫电泳、火箭免疫电泳、免疫火箭扩散电泳及单相免疫扩散电泳等不同免疫学电泳的检测，分别对新鲜皮片及－１９６℃冷冻皮片抗原性改变的这一现象进行探讨与研究。结果表明：人皮、豚鼠皮其新鲜皮片的抗原成份、抗原决定簇及抗原量均显著高于相应的－１９６℃冷冻组皮片，因而证实了通过深低温冷冻的皮片其抗原性低于新鲜皮片的论断。