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大脑中动脉mRA血流信号异常与定量Ct判断缺血改变的一致性:未来治疗学的研究目标

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世界核心医学期刊文摘（神经病学分册） 2005年第2期1卷 35-35页

作者： Barber P.A. Demchuk A.m. Hill m.D. 高中宝 Department of Clinical Neurosciences University of Calgary Institute for Biodiagnostics (West) 3330 Hospital Drive Calgary Alta. T2N 4N 1 Canada

Objectives: In this study we define the probability of vascular abnormality in the middle cerebral artery (mCA) territory according to the extent of ischaemic change seen using computed tomography (Ct). We assessed the sensitivity and spe cificity of the hyperdense middle cerebral artery (HmCA) and the “dot”sign usi ng magnetic resonance angiography (mRA). methods: Patients presenting with ischa emic stroke had a Ct scan ( to mRI (titative Ct scoring system (ASPECtS) was applied to Ct and diffusion weighted images (DWI) at basel ine and follow up (24 h) by five independent observers. the presence of HmCA and the mCA "dot" sign was also evaluated. An expert reader assessed the 3D time of flight (tOF) mRA in the anterior circulation for areas of decreased vascular si gnal in the mCA territory, with an absent signal taken to represent severely red uced or absent flow. Results: A total of 100 consecutive patients had baseline C t and mR scans. the median NIHSS was 9. the median Ct ASPECtS was 8 and equalled the median DWI ASPECtS. there were a total of 10 HmCA and 19 mCA “dot”signs, with four patients having both HmCA and “dot”signs. A total of 47 mRA flow sig nal abnormalities were observed in the anterior circulation. Conclusions: In the absence of accessible neurovascular imaging, the extent of Ct ischaemia (ASPECt S) is a strong predictor of vascular occlusion. the Ct hyperdense artery signs h ave a high positive predictive value but low negative predictive value.

关键词：大脑中动脉 mRA血流信号动脉高密度征弥散加权影像缺血性卒中血管闭塞前循环金标准基线水平阴性预测值

心肌型脂肪酸结合蛋白可对肺栓塞进行早期风险分层

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世界核心医学期刊文摘（心脏病学分册） 2007年第7期3卷 38-38页

作者： Puls m. Dellas C. Lankeit m. S. Konstantinides 李莉 Department of Cardiology and Pulmonology University of Goettingen Germany

目的：探讨新型早期生物标记心肌型脂肪酸结合蛋白（H—FABP）在急性肺栓塞（PE）患者风险分层中的价值。方法和结果：前瞻性纳入连续107例确诊PE患者。研究终点为：①PE相关性死亡或主要并发症；②30d总死亡率。共有29例（27％）患者... 详细信息

目的：探讨新型早期生物标记心肌型脂肪酸结合蛋白（H—FABP）在急性肺栓塞（PE）患者风险分层中的价值。方法和结果：前瞻性纳入连续107例确诊PE患者。研究终点为：①PE相关性死亡或主要并发症；②30d总死亡率。共有29例（27％）患者就诊时的H-FABP水平异常（〉6p,g／L），其中12例（41％）出现并发症，而基线H-FABP正常的所有患者的30d预后良好（0R71．45，P〈0．0001）。多变量分析中，H-FABP可预测不良预后（P〈0．0001），而心肌肌钙蛋白t（P=0．13）或N一末端脑利钠肽（P=0．36）无预测价值。生物标记与超声心动图联合评估显示，不论超声心动图结果如何，H-FABP检测阴性的患者均预后良好。

关键词：心肌型脂肪酸结合蛋白急性肺栓塞风险早期 H-FABP 超声心动图不良预后预测价值

阿尔茨海默病与UBQLN1变异之间的家系关联性

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世界核心医学期刊文摘（神经病学分册） 2005年第8期1卷 4-4页

作者： Bertram L. Hiltunen m. Parkinson m. R.E.tanzi 郭俊 Genetics and Aging Research Unit MINDMGH-East 114 16th St. Charlestown MA 02129United States Dr.

BACKGROUND: Recent analyses suggest that the known Alzheimer’s disease genes account for less than half the genetic variance in this disease. the gene encodi ng ubiquilin 1 (UBQLN1) is one of several candidate genes for Alzheimer’s disea se located near a well-established linkage peak on chromosome 9q22. mEtHODS:We evaluated 19 single-nucleotide polymorphisms in three genes within the chromoso me 9q linkage region in 437 multiplex families with Alzheimer’s disease from th e National Institute of mental Health (NImH) sample (1439 subjects). We then tes ted the single-nucleotide polymorphisms showing a positive result in an indepen dently identified set of 217 sibships discordant for Alzheimer’s disease (Conso rtium on Alzheimer’s Genetics [CAG] sample; 489 subjects) and assessed the func tional effect of an implicated single-nucleotide polymorphism in brain tissue f rom 25 patients with Alzheimer’s disease and 17 controls. RESULtS: In the NImH sample, we observed a significant association between Alzheimer’s disease and v arious single-nucleotide polymorphisms in UBQLN1. We confirmed these associatio ns in the CAG sample. the risk-conferring haplotype in both samples was defined by a single intronic single-nucleotide polymorphism located downstream of exon 8. the risk allele was associated with a dose-dependent increase in an alterna tively spliced UBQLN1 (lacking exon 8) transcript in RNA extracted from brain sa mples of patients with Alzheimer’s disease. CONCLUSIONS: Our findings suggest t hat genetic variants in UBQLN1 on chromosome 9q22 substantially increase the ris k of Alzheimer’s disease, possibly by influencing alternative splicing of this gene in the brain.

关键词：阿尔茨海默病 UBQLN1 同胞群单核苷酸多态性发病风险功能效应心理健康研究转录体脑标本单体型

校外监护对低收入中心城市居民区青少年性启蒙的作用

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世界核心医学期刊文摘（儿科学分册） 2005年第5期1卷 39-39页

作者： Roche K. m. Ellen J. Astone N. m. 虎小毅 Dept. of Pop. and Fam. H lth. Sci. J. Hopkins Bloomberg Sch. Pub. Hlth. 615 N Wolfe St Baltimore MD 21205 United StatesDr.

Objective: to examine the association between patterns of outof-school care o ver time and the initiation of sex among young adolescents living in low-income urban families. Design: A prospective cohort study (using a 16-month follow-u p) examining the predictive value of changes in out-of-school-care arrangemen ts on early sex initiation. Setting and Participants: By using a multistage stra tified area probability sampling strategy, we selected 494 subjects aged 11 to 1 3 years living in low-income central city neighborhoods who did not report havi ng had sexual intercourse by time *** Outcome measure: Adolescent report of having had sexual intercourse by time ***: Bivariate results suggested th at being at home with an adult during out-of-school hours was related to less sex initiation than self-care, care at another person’s home, and attendance a t an organized/supervised activity. Adjusting for demographic attributes, parent al monitoring, parental curfews, and family routines, remaining in out-of-home care or selfcare was associated with a 2.5 times (95%confidence interval, 1. 3-5.1 times) increase in the likelihood of initiating sexual intercourse when compared with being at home with an adult at both assessment times. Conclusion: Policies and programs that enable young adolescents to spend their out-of-scho ol hours at home with an adult may help reduce the risk of early sex initiation among youth in low-income urban areas.

关键词：收入中心外监护城市居民区城市家庭早期性课外时间性交史评估阶段统计学特征自我监护

瘤胃可降解缬氨酸对泌乳后期奶牛产奶量的影响

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饲料博览 2016年第3期 57-57页

作者： Hultquist K m Casper D P

试验旨在探索日粮中添加瘤胃可降解缬氨酸对产奶量的影响,并与添加重组牛生长激素（rbst）的奶牛产奶量进行比较。选择8头高产泌乳后期的荷斯坦奶牛（平均泌乳天数为255±26.4 d）,随机分配到4组,设计4×4拉丁方阵,试验期21 d（7 d适应... 详细信息

试验旨在探索日粮中添加瘤胃可降解缬氨酸对产奶量的影响,并与添加重组牛生长激素（rbst）的奶牛产奶量进行比较。选择8头高产泌乳后期的荷斯坦奶牛（平均泌乳天数为255±26.4 d）,随机分配到4组,设计4×4拉丁方阵,试验期21 d（7 d适应期,14 d采样期）。4组分别为对照组（CON组）、单次静脉注射组（rbs t组）、饲喂缬氨酸40 g·d-1组（V40组）和饲喂缬氨酸80 g·d-1组（V80组）。奶牛基础日粮中添加玉米酒糟113.4 g·d-1Dm。CON组、rbs t组、V40组和V80组的干物质摄入量分别为21.3、22.0、22.8和21.5 kg·d-1,组间差异较小,V40组干物质摄入量高于V80组。牛奶产量分别为22.0、26.1、25.2和24.9 kg·d-1,3.5%标准乳量分别为22.1、25.4、24.4和24.3 kg·d-1,能量标准乳量分别为22.7、26.1、25.1和24.9 kg·d-1,rbs t组、V40组及V80组与CON组相比,各项均增长且幅度相近。乳脂率分别为3.51%、3.36%、3.32%和3.38%。CON组含量高于V40组,其他两组含量适中且相近。乳蛋白率分别为3.20%、3.12%、3.15%和3.13%,CON组含量高于rsb t组、V40组,V80组含量适中。瘤胃丁酸含量分别为1.19、1.24、1.44和1.74 mol·100 mol-1,V40组和V80组含量高于CON组和rsb t组,且V80组含量高于V40组。血浆生长激素浓度分别为1.781.99、1.55和1.45 ng·m L-1,rsb t组浓度高于V40组和V80组,CON组适中。血浆胰岛素样生长因子-Ⅰ的浓度分别为60.4、106.1、65.9和58.3 ng·m L-1,rsb t组浓度高于其他各组。研究结果表明,与饲喂重组牛生长激素相比,饲喂瘤胃可降解缬氨酸对产奶量的影响较大。

关键词：氨基酸泌乳奶牛生长激素产奶量

Fas/Fas配体介导的凋亡在固定性药疹发病机制中的可能作用

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世界核心医学期刊文摘（皮肤病学分册） 2006年第6期2卷 35-35页

作者： Choi H.J. Kim m.Y. Y.m. Park 罗素菊 Department of Dermatology Kangnam St. Mary's Hospital Catholic University of Korea 505 Banpo-dong Seocho-gu Seoul 137-701 South Korea

Background: Although epidermal and dermal t cells play roles in the pathogenesis of fixed drug eruption (FDE), not much is known about keratinocyte death and its precise mechanism in FDE. Objectives: Our aim is to elucidate the mechanism that underlies keratinocyte death in FDE, that is, the role of apoptosis and its signalling pathway. methods: We first examined the involvement of apoptosis in the active FDE lesions by terminal deoxynucleotidyl transferase-mediated deoxyuridine triphosphate nick end-labelli- ng (tUNEL) assay and immunohistochemical analysis of caspase-3. We then examined the expressions of Fas and Fas ligand (FasL) to deduce the possible upstream signalling pathway of apoptosis, if apoptosis were involved. We finally characterized the infiltrated t-cell subpopulations in the active FDE lesions. Results: In the active FDE lesions, tUNEL positivity was strongly observed in the basal keratinocytes, and also weakly observed in the upper dermal infiltrates as well as in a few keratinocytes in the granular layer. the distribution of tUNEL-positive cells was similar to that of the strong staining of active capase-3. Fas was found mainly in the keratinocytes and some infiltrated dermal cells, whereas FasL was identified predominantly in the intraepidermal and dermal infiltrated cells and in some basal keratinocytes. Overlapping expression of Fas and FasL was accompanied by apoptosis in the FDE lesions. many of the infiltrated mononuclear cells were CD8+. Perforin was rarely observed in the FDE lesions. Conclusions: these findings suggest that apoptosis of the keratinocyte is highly likely to be involved in the pathogenesis of FDE, and this cytotoxicity might be predominantly mediated by the FasL of the infiltrating CD8+t cells, possibly also playing an inflammatory role.

关键词： Fas/Fas配体固定性药疹发病机制酶介导活性caspase-3 tUNEL阳性细胞凋亡角质形成细胞 CD8+t细胞脱氧核苷酰

基因工程改良植物重金属抗性与富集能力的研究进展

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生物工程学报 2004年第2期20卷 157-164页

作者：郎明林张玉秀柴团耀中国科学院研究生院生物系中国矿业大学化学与环境工程学院北京100083

基于分子水平上对植物吸收、解毒、忍耐以及超富集重金属的几个关键步骤的认识 ,以及一些功能基因相继在细菌、酵母、植物和动物中被分离、鉴定 ,近年来 ,人们利用转基因技术提高植物重金属抗性和富集能力方面已获得进展 ,一些功能基因 ... 详细信息

基于分子水平上对植物吸收、解毒、忍耐以及超富集重金属的几个关键步骤的认识 ,以及一些功能基因相继在细菌、酵母、植物和动物中被分离、鉴定 ,近年来 ,人们利用转基因技术提高植物重金属抗性和富集能力方面已获得进展 ,一些功能基因 (如gsh1,merA和ArsC)及其工程植物已显示出植物修复产业化潜力。特别对转基因技术所采取的分子生物学途径、达到的效果以及存在的问题进行了详述。

关键词：基因工程植物重金属抗性富集能力分子生物学

应用超敏感的基于ngS文库微滴的数字PCR方法检测非小细胞肺癌患者ctDNA的t790m突变

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应用超敏感的基于NGS文库微滴的数字PCR方法检测非小细胞肺癌患者...

2018年中国肿瘤标志物学术大会暨第十二届肿瘤标志物青年科学家论坛

作者：李俊杨科赵九州任鹏飞王志中魏冰董冰孙瑞王小艳 Groen,Harry J.m 马杰郭永军河南省肿瘤医院

目的 EGFR t790m突变是非小细胞肺癌患接受一/二代EGFR-tKIs治疗后最主要的耐药标记。由于临床工作中组织二次活检率低,通过液体活检明确循环肿瘤DNA(ctDNA)中t790m的突变状态对于疾病监控和治疗决策至关重要。当前对ctDNA中t790m的检...

目的 EGFR t790m突变是非小细胞肺癌患接受一/二代EGFR-tKIs治疗后最主要的耐药标记。由于临床工作中组织二次活检率低,通过液体活检明确循环肿瘤DNA(ctDNA)中t790m的突变状态对于疾病监控和治疗决策至关重要。当前对ctDNA中t790m的检测方法主要包括ARmS-PCR、ddPCR以及二代测序(ngS);ddPCR和ngS敏感性较高,前者检测快(1.5天)通量低,后者通量高耗时长(1周)。但是由于ctDNA的产量较低,t790m在ctDNA中的检出率(约40%)远低于组织活检FFPE样本(约60%)。如何在提高ctDNA中t790m的检出率是当前需要解决的迫切问题。方法我们将ngS和ddPCR的方法进行整合,即以ctDNA为模板建立ngS预文库实现目标片段的扩增和富集,随后以预文库微滴为底物通过ddPCR检测t790m状态;对于LAB-ddPCR检测出的t790m阴性患者,进而通过二代测序全面判断其他变异位点的信息。结果我们的结果显示:1.以t790m变异比例(VFs)为0.1%的ctDNA标准品进行ddPCR检测,当上样量为300ng时所生成的有效微滴数最高且检出的t790m VFs没有发生偏移;2.无论是标准品还是23例患者来源的ctDNA样本,LAB-ddPCR表现出极高的检测灵敏度(0.05%)和特异性(100%),检出的t790m VFs与ngS高度一致(R2=0.9995);3.在70例对EGFR-tKIs耐药的NSCLC的ctDNA样本中,LAB-ddPCR共检出41例t790m阳性(58.57%),而传统的ddPCR仅检出27例(38.57%);其中27例两种检测均检测为阳性的样本,t790m的突变丰度高度一致(R2=0.9647);4.在21例NSCLC配对的二次活检和ctDNA样本中,LAB-ddPCR ctDNA t790m检测与二次组织活检t790m检测的一致率为80.95%,而传统ddPCR与二次活检结果的一致率仅有61.9%。结论 LAB-ddPCR克服了临床样本ctDNA产量低的缺点,极大地提高了ctDNA t790m检测的敏感性;该方法特异性高、可重复性好,与二次活检样本的结果高度一致,更真实地反映了t790m的突变状况,为靶向治疗提供快速、准确的信息。

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选择性卵巢静脉取样定位Leydig细胞瘤

世界核心医学期刊文摘（妇产科学分册） 2005年第11期1卷 32-32页

作者： Dickerson R.D. Putman m.J. Black m.E. A.B. Pinto 李跃萍 Barnett tower 502 3600 Gaston Avenue Dallas TX 75246 United States Dr.

Objective: to describe a patient with recent onset of rapidly progressive virilization who was diagnosed with an androgen-secreting tumor of the left ovary, localized by selective ovarian vein catheterization and hormonal sampling (SOVHS). Design: Case report. Setting: tertiary community-based medical center. Patient(s): A 32-year-old woman presenting with progressive virilization over a period of 4 months was found to have a Leydig cell tumor of the left ovary. Intervention(s): transvaginal ultrasound of the pelvis, followed by contrast-enhanced computerized tomography of the abdomen and the pelvis. Selective ovarian vein sampling was performed to localize the tumor. Laparoscopic left salpingo-oophorectomy and washings were also performed. main Outcome measure(s): Initial serum total t levels were 1,505 ng/dL, and the free serum t levels were 234 ng/dL. After SOVHS, the total serum t levels in the left ovarian vein is reported to be 20,967 ng/dL, and in the right ovarian vein, they were reported to be 1,351 ng/dL. three months after laparoscopic left oophorectomy, the serum total t levels were 11 ng/dL. Institutional review board approval was obtained. Result(s): Patient’ s ovarian tumor removed laparoscopically was reported to be a Leydig cell tumor. Rapid decreases in free and total t followed tumor removal. Conclusion(s): Selective ovarian vein catheterization and hormonal sampling is an effective diagnostic modality that can help localizesmall ovarian tumors.

关键词： Leydig细胞卵巢切除卵巢肿瘤右侧卵巢左卵巢左侧卵巢左侧输卵管雄激素分泌阴道超声检查镜下切除