2型糖尿病遗传易感性与CAPN-10基因多态性的相关性研究

目的探讨2型糖尿病(T2DM)遗传易感性与CAPN-10基因多态性的关系。方法采用限制性片段长度多态性聚合酶链反应(PCR-RFLP)技术对100例T2DM患者(病例组)和100例健康者(对照组)CAPN-10基因SNP19(rs3842570)、SNP43(rs3792267)和SNP63(rs5030952)多态性位点进行基因分型。结果病例组CAPN-10基因43位点的GG基因型频率和G等位基因频率显著高于对照组,差异有统计学意义(P<0.05);19位点和63位点的基因型频率、等位基因频率在病例组与对照组分布差异均无统计学意义(P>0.05)。结论 CAPN-10基因SNP43(rs3842570)位点与T2DM的发生有相关性,而SNP19(rs3842570)和SNP63(rs5030952)位点则与T2DM的发生无相关性。     

钙蛋白酶10基因多态性与贵阳地区人群2型糖尿病的相关性研究

目的探讨钙蛋白酶10(Calpain10)基因第3内含子SNP19多态性与贵阳地区人群2型糖尿病(T2DM)遗传易感性的关系。方法采用病例-对照研究设计,对74例T2DM患者和72例健康对照应用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)技术检测Calpain10基因SNP19位点多态性,并与不同人群进行比较分析。结果与对照组相比病例组SNP19基因型频率、等位基因频率均无显著差异,与其他研究人群的结果相近。结论 Calpain10基因SNP19位点多态性可能与贵阳地区人群T2DM的发生无关。     

东北汉族人群抵抗素基因rs1862513(G/C)多态性与2型糖尿病相关性研究

目的探讨东北汉族抵抗素基因rs1862513(G/C)位点与2型糖尿病发病及临床表型相关性。方法应用连接酶反应分型法检测79例2型糖尿病患者及79例正常对照者rs1862513(G/C)多态性。结果 2型糖尿病组和对照组抵抗素rs1862513(G/C)位点基因型分布分别为GG49.5%、GC44.3%、CC6.2%和GG40.2%、GC47.4%、CC12.4%;等位基因频率分别为G型71.6%、C 28.4%和G型63.9%、C型36.1%,该位点的基因型分布和等位基因频率在两组间分布均无统计学意义(P值均0.05)。病例组CC基因型患者空腹血糖明显低于GG基因型患者(P值0.05),体重指数、总胆固醇、甘油三酯、糖化血红蛋白、高密度脂蛋白胆固醇、低密度脂蛋白胆固醇、胰岛素以及胰岛素敏感指数等临床检测指标在rs1862513(G/C)三种基因型患者之间没有显著差异(P值均0.05)。结论东北汉族人群抵抗素基因rs1862513(G/C)多态性与2型糖尿病发病无显著相关性,但与患者空腹血糖值相关。     

脂联素单核苷酸多态性+45位点的表达在2型糖尿病中的研究

目的研究脂联素单核苷酸多态性SNP＋45位点基因在广州汉族2型糖尿病患者中的分布,评价该基因是否为2型糖尿病的易感基因。方法采用聚合酶链式反应-限制性内切酶长度多态性技术,对2型糖尿病（T2DM）组和健康对照（CON）组人群进行脂联素基因SNP＋45多态位点基因的检测。结果T2DM组人群脂联素SNP＋45位点的基因型分布：TT型56．4％、GT型34．9％、GG型8．7％。CON组脂联素SNP＋45位点的基因型分布：TT型42．0％、GT型48．2％、GG型9．8％。结论广州地区T2DM组与CON组脂联素SNP＋45位点的基因型差异有统计学意义。T2DM组T／T型基因明显增多;CON组GT＋GG型基因增多。提示脂联素基因第2外显子45位点多态性与2型糖尿病相关,TT基因型者具有较高的2型糖尿病易感性。     

MassARRAY Assay高通量技术检测胃癌LTA单核苷酸多态性及其临床应用

目的探讨LTA基因单核苷酸多态性与胃癌易感性的相关性。方法选择60例胃癌患者和60例健康人群为研究对象。采用Mass ARRAY Assay高通量技术检测淋巴毒素-α(LTA)基因单核苷酸(SNP)位点rs909253基因多态性,分析其出现频率及与胃癌易感性的相关性。结果胃癌组与正常组在AA基因频率(20.00%vs.21.67%)差异无统计学意义;G等位基因、GA、GG+GA基因型或变异基因型与胃癌易感风险相关[OR(95%CI):1.48(1.15~1.99)、1.36(1.05~1.68、1.32(1.22~1.65)]。结论 LTA基因rs909253位点单核苷酸多态性与胃癌易感性相关,G等位基因、GG、GA、GG+GA基因型或变异基因型可能是胃癌发病的危险因素。     

肥胖儿童胰岛素敏感性与2型糖尿病的关系

目的 :探讨我国肥胖儿童胰岛素敏感性和 2型糖尿病的发生趋势及其与肥胖的关系。方法 :对 170例肥胖儿童和 64例正常健康儿童进行了禁食 10h后血压、腰围、臀围、血清葡萄糖、胰岛素、C肽、胆固醇 (CHO )、甘油三酯 (TG)和高密度脂蛋白胆固醇 (HDL C)检测 ,并随机对其中 5 7例肥胖儿童进行了口服糖耐量试验 (OGTT)。结果 :肥胖儿童空腹胰岛素和C肽均明显高于正常对照组 (P <0 0 1) ,胰岛素敏感性明显低于正常对照 (P <0 0 1) ,血糖无显著性差异 (P >0 0 5 ) ,肥胖儿童胰岛素敏感性与年龄、体重指数、甘油三酯、高密度脂蛋白胆固醇均呈显著负相关 (P <0 0 1～ 0 0 5 ) ,与血压和胆固醇无相关性 (P >0 0 5 ) ,胰岛素敏感性男女儿童之间差异无显著性(P >0 0 5 )。空腹和OGTT中 2h血糖均升高符合糖尿病诊断标准者 2例。OGTT中 ,单纯 2h血糖升高符合糖尿病诊断标准者 4例 ,符合糖耐量受损诊断标准者 4例。所有符合糖尿病和糖耐量受损诊断标准者胰岛素和C肽水平均较高 ,尿糖阴性 ,无消瘦、多尿、烦渴多饮等典型糖尿病症状。结论 :肥胖儿童胰岛素敏感性明显下降 ,有 2型糖尿病发生倾向 ,年龄越长、肥胖程度越高、甘油三酯越高 ,胰岛素敏感性越低 ,但与血压和胆固醇无关 ,无性别差异。儿童 2型糖尿病早期     

基质辅助激光解吸电离飞行时间质谱技术检测药物代谢酶基因多态性平台的建立

目的 建立基于基质辅助激光解吸电离飞行时间质谱(MALDI-TOF-MS)技术检测患者体内药物代谢酶基因多态性的平台。方法 选取2013年10月～2014年6月在北京协和医院门诊就诊患者53例EDTA抗凝外周血,提取全血基因组DNA,用MALDI-TOF-MS技术检测53例患者药物代谢酶基因CYP2C9*2(rs1799853),CYP2C9*3(rs1057910),CYP2C19*2(rs4244285),CYP2C19*3(rs4986893),CYP2C19*4(rs28399504),CYP2C19*5(rs56337013)和CYP2C19*17(rs12248560)的单核苷酸多态性(SNP)位点,并用Sanger测序法进行验证。结果 用 MALDI-TOF-MS 技术可以同时完成53份样本,2个药物代谢酶基因,7个SNP位点的检测。53例患者中,发现CYP2C19*2(rs4244285)AG型25例,AA型6例,GG型22例,A等位基因频率为34.9%。CYP2C19*3(rs4986893)AG型4例,GG型49例,A等位基因频率为3.8%。CYP2C9*3(rs1057910)CA型5例,AA型48例,C等位基因频率为4.7%。未发现 CYP2C9*2(rs1799853),CYP2C19*4(rs28399504),CYP2C19*5(rs56337013)和CYP2C19*17(rs12248560)位点突变。经与Sanger测序法比较,两种检测方法结果的符合率为100%。结论 成功建立MALDI-TOF-MS技术检测药物代谢酶基因多态性的平台,该平台具有高通量、准确的特点,对个性化用药治疗具有重要的临床应用价值。     

脂肪滋养蛋白单核苷酸多态性rs2072907与肥胖、2型糖尿病的相关性研究——附中国广州831例分析

目的：探讨中国人群脂肪滋养蛋白（Adiponutrin）基因单核苷酸多态性（SNP）rs2072907与肥胖以及2型糖尿病的相关性。方法：500例2型糖尿病患者设为2型糖尿病组,331名糖耐量正常者设为非糖尿病组（其中非肥胖者155名,超重／肥胖者176名）。测量两组身高、体质量、腰围、臀围,计算体质量指数（BMI）及腰臀比,测定总胆固醇、三酰甘油、HDL-C,采用稳态模型评估法（HOMA）计算胰岛素抵抗指数HOMA—IR。应用连接酶检测反应技术检测脂肪滋养蛋白基因rs2072907位点基因型。比较两组等位基因以及基因型频率差异,分析SNPrs2072907与肥胖、2型糖尿病、性别的相关性,及非糖尿病组中不同性别患者的基因型、肥胖／2型糖尿病相关表型及HOMA—IR的差异。结果：脂肪滋养蛋白基因SNPrs2072907的基因型及等位基因在2型糖尿病组与非糖尿病组之间,以及非糖尿病组的正常体质量组与超重／肥胖组之间,差异均无统计学意义（P〉0．05）。2型糖尿病组男性的C等位基因频率较非糖尿病组增高,但差异无统计学意义。非糖尿病组男性中CC基因型患者的空腹胰岛素水平、2h胰岛素水平及HOMA—IR均较GC和GG基因型患者高,差异均有统计学意义（P〈0．01或0．05）;CC基因型较GC及GG基因型三酰甘油水平和游离脂肪酸水平均有增高趋势,但差异无统计学意义。MANOVA分析显示男性的CC基因型与HOMA—IR相关。结论：脂肪滋养蛋白基因可能不是中国人肥胖或2型糖尿病的主要易感基因;脂肪滋养蛋白基因SNPrs2072907有可能增加中国男性胰岛素抵抗发生的风险。     

CDKAL1基因rs7754860位点G<C多态性与2型糖尿病易感关系的Meta分析

背景:遗传学研究显示2型糖尿病可能存在遗传易感性,但研究结论存在一定的差异。目的:探讨CDKAL1(细胞周期素依赖激酶5调节亚单位相关蛋白1类似物1)基因rs7754860位点G相似文献   

深圳汉族人中上游刺激因子1基因单核苷酸多态性与2型糖尿病之间的关系

目的 分析深圳汉族人中上游刺激因子1(USF1)基因单核苷酸多态性(SNP)及其与2型糖尿病之间的相关性.方法 采用聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP)结合琼脂糖凝胶电泳技术检测137例健康者及64例2型糖尿病患者SNP(rs3737787) 基因型及等位基因频率分布,同时采用生化方法测定所有研究对象的血脂、血糖,胰岛素和C-肽水平.结果 糖尿病组SNP(rs3737787)等位基因频率显著高于对照组(P=0.006).CC 纯合子患糖尿病的风险是TT 纯合子的3.74 倍(OR=3.74,95%CI:1.56～8.93),且经Logistic 回归分析,校正年龄、体质量指数和血浆高密度脂蛋白(HDL-C)、低密度脂蛋白(LDL-C)、血脂及糖化血红蛋白水平等其他混杂因素影响后,差异有统计学意义(OR=2.69,95%CI:1.25～5.87).结论 在深圳汉族人群中以USF1中的rs3737787作为主要等位基因,与2型糖尿病发病风险高度相关.     

Guns and Knives in New Mexico: Patterns of Penetrating Trauma, 1978–1993

Objective: To identify patterns of nonfatal and fatal penetrating trauma among children and adults in New Mexico using ED and medical examiner data.
Methods: The authors retrospectively sampled in 5-year intervals all victims of penetrating trauma who presented to either the state Level-1 trauma center or the state medical examiner from a 16-year period (1978–1993). Rates of nonfatal and fatal firearm and stabbing injury were compared for children and adults.
Results: Rates of nonfatal injury were similar (firearm, 34.3 per 100,000 person-years; stabbing, 35.1). However, rates of fatal injury were significantly different (firearm, 21.9; stabbing, 2.7; relative risk: 8.2; 95% confidence interval: 5.4, 12.5). From 1978 to 1993, nonfatal injury rates increased for children (p = 0.0043) and adults (p < 0.0001), while fatal penetrating injury remained constant. The increase in nonfatal injury in children resulted from increased firearm injury rates. In adults, both stabbing and firearm nonfatal injury rates increased.
Conclusions: Nonfatal injury data suggest that nonfatal violence has increased; fatal injury data suggest that violent death rates have remained constant. Injury patterns vary by age, mechanism of trauma, and data source. These results suggest that ED and medical examiner data differ and that both are needed to guide injury prevention programs.     

Systematic Reviews Published in the January 2011 Issue of The Cochrane Library

ABSTRACT

The Cochrane Library of Systematic Reviews is published quarterly as a DVD and monthly online. The January 2011 issue (first quarterly DVD for 2011) contains 4515 complete reviews, 1985 protocols for reviews in production, and 13,521 one-page summaries of systematic reviews published in the general medical literature. In addition, there are citations of 641,000 randomized controlled trials, and 14,018 cited papers in the Cochrane methodology register. The health technology assessment database contains over 9300 citations. One hundred and seven new reviews have been published in the last 3 months, of which five have potential relevance for practitioners in pain and palliative medicine.     

Prise en charge des entorses externes de cheville : étude clinique préliminaire sur l’efficacité du dispositif Myolux™

Ankle sprains are the most common injury of the musculoskeletal system and are associated with significant societal and economic impacts. It has been proven that classical therapeutic strategies may not be effective in preventing recurrent injuries: the recurrence rates reported in the literature can reach 73%. In order to provide an effective rehabilitation solution, a destabilizing orthosis was developed. This device is equipped with a mechanical articulator reproducing the subtalar mechanics and placed under the heel. In this paper, we present the main results of a preliminary clinical study conducted between 2004 and 2007. All subjects included in this study were treated with the abovementioned orthosis during 10 rehabilitation sessions of 30 minutes each. Data show a relatively low recurrence rate of 12% for the overall population. Moreover, it's of primary importance to note that this satisfactory ratio is largely reduced (3% of recurrence rate) for the 29 patients who performed one training session per month after the 10th initial rehabilitation sessions. Hence, the destabilizing orthosis appears to be an effective solution to prevent recurrent ankle sprains. However, joint protection requires long-term and regular training sessions. This result has motivated the development of a similar device allowing patients to perform training sessions at home. Finally, data obtained in this study are promising awaiting the final results of the comparative, multicentric and independent clinical trials currently managed by the Hospices Civils de Lyon.     

Clinical Trial Updates and Hotline Sessions presented at the European Society of Cardiology Congress 2007

This article provides information and commentaries on trials which were presented at the Hotline and Clinical Trial Update Sessions at the European Society of Cardiology Congress 2007 in Vienna. The key presentations were performed by leading experts in the field with relevant positions in the trials or registries. It is important to note that unpublished reports should be considered as preliminary data, as the analysis may change in the final publications. The comprehensive summaries have been generated from the oral presentation and the webcasts of the European Society of Cardiology and should provide the readers with the most comprehensive information of relevant publications.     

Balance and Boundaries in Grief Counseling: An Intervention Framework for Volunteer Training

Volunteers or paraprofessional counselors are commonly used to provide supportive care to the bereaved. These counselors generally are trained in basic listening skills, providing a generic, nonspecific approach to intervention that remains to be proven effective. The present paper outlines a framework that provides paraprofessionals with a broader model for intervention with the bereaved. Attention to boundaries as a helper and balance in the grief recovery are central to the model. Interventions are described that provide the paraprofessional counselor with more options for tailoring their counseling strategy to the individual. These include techniques that are presumed to be more specific to the enhancement of grief recovery.     

A new method for the simultaneous analysis of unmodified and modified urinary nucleosides and nucleobases by high performance liquid chromatography

Details are given of a new, rapid and simple pre-fractionation method and an isocratic high performance liquid chromatography system suitable for parallel analysis of nucleosides and nucleobases from urine and other biological fluids. The quantitative recovery and excellent reproducibility of the method is demonstrated by analysis of representative standard RNA catabolites. The advantage of this new method for application to biological samples is discussed.     

Adsorption of Charged Non-albumin Bound Drugs by Amorphous Silica

We investigated the in vitro drug adsorption of PQ 10150 sodium silicate gel (AIS, Santa Clara, CA) with particle size of 230 um and surface area of 400 nr/g. We observed 99% to 88% adsorption of gentamicin; a mean 91 % of disopyramide; a mean 89% of quinidine at low concentration, falling to 75% at higher concentration. Insulin was 88% adsorbed at low concentrations but less so (65%) at higher concentrations. We observed a mean 83 % adsorption of procainamide, a mean 84% of N-acetyl procainamide, 74% oflidocaine, 73% of amitriptyline; and 44% of desipramine. We found an average 14% reduction of total digoxin concentration when serum containing digoxin (2 to 33 ng/mL) was exposed to sodium silicate, while the reduction in free digoxin concentration was 16%. Five percent ethosuximide was also removed. The adsorption of theophylline, phenobarbital, acetaminophen, phenytoin, ethylene glycol, methotrexate, salicylate, thiocyanate and diazepam was minimal and not significant. We conclude that significant amounts of charged, non-albumin bound drugs can be removed by PQ 10150 sodium silicate gel.     

自动化酸碱平衡图在急诊社区获得性肺炎诊治中的应用

目的 探讨自动化酸碱平衡图在急诊科社区获得性肺炎(CAP)患者诊断中的价值.方法 根据病史、肺功能测定结果、慢性阻塞性肺疾病(COPD)诊断标准,将111例CAP患者分为单纯CAP组(56例)和COPD合并CAP组[即慢性阻塞性肺疾病急性加重(AECOPD)组,55例].询问患者病史后即刻抽取动脉血测血气并进行自动化酸碱平衡图分析.结果 血气分析结果显示,AECOPD组动脉血二氧化碳分压(PaCO2,kPa)、HCO3- (mmol/L)、剩余碱(BE,mmol/L)均显著高于CAP组(PaCO2:7.714±2.414比5.896±1.308,HCO3-:30.767±7.185比25.014±3.043,BE:4.345±5.371比-0.354±3.180,均P＜0.01).自动化酸碱平衡图分析结果显示,AECOPD组患者酸碱平衡紊乱高达89.1％,CAP组为66.1％.将AECOPD组和CAP组患者中正常(10.9％、33.9％)、急性呼吸性酸中毒(急性呼酸,12.7％、14.3％)、慢性呼吸性酸中毒(慢性呼酸,49.1％、10.7％)、呼吸性碱中毒(呼碱,7.3％、14.3％)、代谢性酸中毒(代酸,12.7％、17.9％)、代谢性碱中毒(代碱,12.7％、8.9％)综合进行x2分析,差异有统计学意义(x2=24.421,P=0.001),而将正常、急性呼酸、呼碱、代酸及代碱进行x2分析,差异无统计学意义(x2=5.280,P=0.260),提示AECOPD患者慢性呼酸的发生率较单纯CAP患者显著增加.结论 自动化酸碱平衡图能帮助急诊科医师快速识别CAP患者是否存在多重酸碱平衡紊乱,并可快速识别急、慢性呼吸系统疾病.