缺血性心脑血管病患者血浆同型半胱氨酸水平及其代谢相关酶基因多态性分析

目的　了解缺血性心脑血管病患者血浆同型半胱氨酸 (Hcy)水平的变化 ,分析该变化与Hcy代谢相关酶基因变异的相关性。方法　用高效液相色谱结合荧光检测法测定 80名正常人 ,86例脑梗死 ,6 6例心肌梗死患者血浆总同型半胱氨酸 (tHcy)浓度 ,分析血浆tHcy水平与缺血性心脑血管疾病与胱硫醚 β 合成酶 (CBS)基因 844ins6 8、甲硫氨酸合成酶 (MS)基因A2 75 6G、亚甲基四氢叶酸还原酶(MTHFR)基因C6 77T三种Hcy代谢相关酶基因突变之间的相关性。结果　缺血性心脑血管病患者血浆tHcy水平 [脑梗死组 (19.5 9± 10 .6 5 ) μmol/L ,心肌梗死组 (2 1.13± 9.5 7) μmol/L]较正常对照组[(13.73± 4.78) μmol/L]显著升高 (P <0 .0 5 ) ;MTHFRC6 77T纯合突变者血浆tHcy水平无论在正常对照组或患者组均较野生型及杂合突变者明显升高 (P <0 .0 5 )。MSA2 75 6G ,CBS 844ins6 8基因突变者血浆tHcy水平差异无显著性。结论　高Hcy血症是缺血性心脑血管病的重要危险因子 ,MTHFRC6 77T纯合突变可能是导致血浆Hcy水平轻、中度增高的遗传决定簇。     

亚甲基四氢叶酸还原酶基因多态性及血浆同型半胱氨酸水平与脑血管病的关系

目的探讨亚甲基四氢叶酸还原酶(MTHFR)基因多态性及同型半胱氨酸(Hcy)水平与脑血管病的关系.方法应用聚合酶链反应-限制性片断长度多态性(PCR-RFLP)技术分析223例脑血管病患者及100名正常对照者的MTHFR基因多态性,同时应用高效液相色谱法(HPLC)测定其血浆Hcy水平.结果 MTHFR基因677位T等位基因携带频率脑血管病组(48.9%)显著高于正常对照组(30.5%,P<0.05),在脑出血患者组(53.3%)与脑梗死患者组(47.2%)之间差异无显著性(P>0.05);脑血管病组血浆Hcy水平[(20.01±8.89) μmol/L]显著高于对照组[(9.12±3.19) μmol/L,P<0.05],而脑出血患者组[(21.71±7.72) μmol/L]与脑梗死患者组[(19.35±8.51) μmol/L]间差异无显著性(P>0.05);各组中MTHFR TT型、TC型血浆Hcy浓度明显高于CC型.结论 MTHFR C677T突变可引起血浆Hcy水平升高,从而增加患脑血管病的危险度.     

PCR熔解曲线法检测MTHFR 677T基因多态性在H型高血压诊治中的应用

高同型半胱氨酸血症是指血浆同型半胱氨酸（homocysteine,Hcy）水平的异常升高（Hcy≥10μmol/L）。亚甲基四氢叶酸还原酶（methylenetetrahydrofolate reductase,MTHFR）是同型半胱氨酸代谢过程中较为重要的关键酶,MTHFR677C/T多态性可引起血浆Hcy水平的增高,研究发现MTHFR677C/T突变是中国人患有高同型半胱氨酸血症的重要原因之一。     

血清肌钙蛋白T及血浆同型半胱氨酸在急性冠脉综合征中的作用

目的　探讨急性冠脉综合征时高同型半胱氨酸血症和心脏肌钙蛋白T的关系 ,评价高同型半胱氨酸血症是否能导致心肌损伤程度加重。方法　AMI 5 3例 ,UAP 5 5例 ,采用荧光标记免疫检测法测定血浆同型半胱氨酸 (Hcy) ,酶联免疫法 (ELISA)测定肌钙蛋白T(cTnT)。结果　AMI组Hcy明显升高时cTnT也明显升高 ,Hcy大于 16 0 μmol/L时cTnT明显高于Hcy小于 7 7μmol/L(P <0 0 1) ,Hcy分别为 7 7、9 0、11 3、14 3、16 0 μmol/L时cTnT分别为 4 6 3、4 6、4 8、6 2、7 8μg/L ;UAP组同样 ,Hcy分别为 9 8、11 0、12 1、12 8、15 4 μmol/L时cTnT分别为 0 0 3、0 0 3、0 0 2、0 0 4、0 15 μg/L ,最高浓度组与最低浓度组方差分析显示P <0 0 1。UAP组cTnT阳性者血浆Hcy浓度比阴性者显著升高 (P <0 0 0 1)。结论　血浆同型半胱氨酸浓度升高与ACS时心肌损伤有关。     

亚甲基四氢叶酸还原酶基因多态性及血浆同型半胱氨酸水平与脑血管病的关系

目的探讨亚甲基四氢叶酸还原酶(MTHFR)基因多态性及同型半胱氨酸(Hcy)水平与脑血管病的关系。方法应用聚合酶链反应-限制性片断长度多态性(PCR-RFLP)技术分析223例脑血管病患者及100名正常对照者的MTHFR基因多态性,同时应用高效液相色谱法(HPLC)测定其血浆Hcy水平。结果MTHFR基因677位T等位基因携带频率脑血管病组(48.9%)显著高于正常对照组(30.5%,P<0.05),在脑出血患者组(53.3%)与脑梗死患者组(47.2%)之间差异无显著性(P>0.05);脑血管病组血浆Hcy水平[(20.01±8.89)μmol/L]显著高于对照组[(9.12±3.19)μmol/L,P<0.05],而脑出血患者组[(21.71±7.72)μmol/L]与脑梗死患者组[(19.35±8.51)μmol/L]间差异无显著性(P>0.05);各组中MTHFR TT型、TC型血浆Hcy浓度明显高于CC型。结论MTHFR C677T突变可引起血浆Hcy水平升高,从而增加患脑血管病的危险度。     

血浆同型半胱氨酸及亚甲基四氢叶酸还原酶基因多态性与缺血性脑卒中的相关性研究

目的探讨血浆同型半胱氨酸(Hcy)及亚甲基四氢叶酸还原酶(MTHFR)基因多态性与缺血性脑卒中的相关性。方法急性缺血性脑卒中患者148例为缺血性脑卒中组,同时健康体检者100例为对照组。患者入院后行血压、血糖、血脂等常规检查。清晨空腹取肘静脉血5 mL,EDTA抗凝后离心10 min,分离上层血浆,检测Hcy水平;中层白细胞4℃保存,3 d内行基因组DNA提取。结果缺血性脑卒中组患者血浆Hcy水平为(15.9±1.9)μmol/L,对照组血浆Hcy水平为(12.0±1.1)μmol/L,2组比较有显著差异。缺血性脑卒中组的高Hcy血症患者比率为39.3%,明显高于对照组中高Hcy血症患者比率(19.0%)。2组T/T纯合子组的血浆Hcy水平均明显高于非T/T纯合子组。结论缺血性脑卒中与高Hcy血症相关,MTH-FR基因对血浆Hcy水平影响显著。     

系统性红斑狼疮血清同型半胱氨酸检测的临床意义

目的 :探讨血清同型半胱氨酸 (Hcy)检测对系统性红斑狼疮 (SLE)患者的临床意义。方法 :应用荧光偏振免疫分析法 (FPIA)测定 68例SLE患者和 40例正常人的血清Hcy水平 ,并与常用实验室指标ANA、抗ds DNA、抗DNP作比较。结果 :SLE患者血清Hcy水平为 ( 17 17± 4 0 5 ) μmol/L ,活动期SLE组血清Hcy水平为( 18 64± 3 63 ) μmol/L ,缓解期SLE组血清Hcy水平为 ( 16 45± 4 60 ) μmol/L ,分别与正常对照组的 ( 10 12± 3 15 )μmol/L相比较差异均有极显著性 (P <0 0 1) ,活动期与缓解期血清Hcy水平相比较差异有显著性 (P <0 0 5 ) ;SLE患者在ANA阳性组血清Hcy水平 ( 17 3 6± 4 0 3 ) μmol/L较ANA阴性组 ( 12 99± 1 94) μmol/L有极显著增高 (P <0 0 1) ;在抗ds DNA阳性组血清Hcy水平 ( 18 3 8± 3 60 ) μmol/L较阴性组 ( 16 2 9± 4 61) μmol/L差异有显著性 (P<0 0 5 ) ;抗DNP阳性组 ( 18 10± 3 0 4) μmol/L与阴性组 ( 16 2 8± 4 3 9) μmol/L血清Hcy水平比较差异有显著性 (P<0 0 5 )。结论 :血清Hcy水平在SLE患者中明显升高 ,提示Hcy检测对SLE有临床意义     

同型半胱氨酸及其酶基因多态性与脑血栓形成的关系

目的探讨血浆同型半胱氨酸(Hcy)及其代谢酶N5,10亚甲基四氢叶酸还原酶(MTHFR)和胱硫醚β合成酶(CBS)基因多态性与脑血栓形成的关系。方法对87例脑血栓形成患者和80例对照者,应用高效液相色谱荧光法测定血浆Hcy浓度,应用聚合酶链限制性内切酶片段长度多态性分析和扩增阻滞突变体系法检测MTHFR及CBS基因型。结果病例组血浆Hcy浓度为(15.28±4.33)μmol/L,显著高于对照组的(11.32±3.86)μmol/L(P<0.001);不同基因型对血浆Hcy浓度影响不一致;两组间基因型分布、纯合子频率和等位基因频率无显著性差异(P>0.05)。结论血浆Hcy浓度升高是脑血栓形成的独立危险因素,单纯的MTHFR和CBS突变不能被确定为脑血栓形成的独立遗传危险因素。     

同型半胱氨酸及C677T基因多态性与妊娠期糖尿病关系分析

目的探讨同型半胱氨酸(Hcy)及亚甲基四氢叶酸还原酶(MTHFR)基因C677T位点多态性与妊娠期糖尿病(GDM)的相关性。方法以91例GDM孕妇为GDM组,123例正常妊娠孕妇为对照组,检测MTHFR C677T基因多态性及血清Hcy、血糖水平。结果 GDM组Hcy水平高于对照组,Hcy水平与空腹血糖水平呈正相关(P0.05)。GDM组与对照组MTHFR C677T多态性基因CC、CT、TT分布频率比较差异有统计学意义(P0.05)。GDM组TT型基因携带者Hcy水平高于CC型基因携带者(P0.05)。结论 Hcy与GDM的发生、发展密切相关。MTHFR C677T基因多态性可能通过影响Hcy水平而影响GDM的发生、发展。     

深圳青年高同型半胱氨酸血症MTHFR C677T基因无创纳米筛查及基因多态性研究

目的为深圳青年高同型半胱氨酸血症防治提供准确快速的转化医学药物服用方案指导,实现基因层面预防。方法选取深圳青年中进行MTHFR C677T基因无创纳米筛查的受检者,从中随机抽取100例基因检测结果为正常的受检者作为对照组,100例患有高同型半胱氨酸血症的患者设为病例组,对两组对象患者不同高同型半胱氨酸水平和MTHFRC6677T基因型的相关性进行对比。并将深圳地区青年高同型半胱氨酸血症MTHFR C677T基因型与其他地区患者比较。结果两组对象MTHFR基因频率(TT、CT、CC)和等位基因频率(T、C)的差异均有显著性(P0.05),病例组患者MTHFR基因频率中TT、等位基因频率中T高于对照组,而MTHFR基因频率中CT和CC、等位基因频率中C低于对照组;两组对象不同基因型(TT、CT、CC)的血浆Hcy水平具有显著差异(P0.05),且均有病例组患者血浆Hcy水平明显高于对照组;不同地区高同型半胱氨酸血症患者MTHFR C677T基因型进行比较,差异具有统计学意义(P0.05),基因型中CC最高为湖南地区(53.33%)、最低为美国(17.85%);CT最高为美国(48.07%)、最低为湖南地区(34.16%);TT最高为深圳地区(35.00%)、最低为美国(3.57%)。结论通过深圳青年高同型半胱氨酸血症MTHFR C677T基因多态性表现的研究,能够达到对高同型半胱氨酸血症高危人群早期基因预警筛查目的。     

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.     

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.     

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.