四氢叶酸还原酶基因多态性与不稳定型心绞痛关系的研究

目的 探讨四氢叶酸还原酶(MTHFR)基因C677T变异与中国人群不稳定型心绞痛(UA)的关系.方法 随机收集90例UA患者(UA组),并收集与之年龄、性别相匹配的90例体检健康对照人群(对照组),采用聚合酶链反应-限制性片段多态性(PCR-RFLP)方法 进行MTHFR基因C677T变异的分析.观察不稳定型心绞痛与MTHFR基因C677T多态性的关系.结果 UA组MTHFR基因677TT纯合子为9例,C677T杂合子为21例,突变率33.33%;对照组MTHFR基因677TT纯合子为3例,C677T杂合子为12例,突变率16.67%;结果 显示2组MTHFR基因C677T变异差别有统计学意义(P<0.05).结论 MTHFR基因C677T变异与中国人群不稳定型心绞痛的发生相关.     

亚甲基四氢叶酸还原酶基因677C／T和1298A／CSNP与肺癌的相关性研究

目的探讨我国黑龙江地区汉族人群亚甲基四氢叶酸还原酶（MTHFR）基因单核苷酸多态与肺癌的相关性。方法纳入225例肺癌患者作为实验组,以门诊体检健康人群225名为对照组,采用病例对照研究法进行MTHFR基因677C/T 、1298A/C SNP与肺癌的关联分析,以Sanger双脱氧链终止法检测基因分型。结果在对照组中,MTHFR基因C677T的野生型CC、突变杂合子CT、突变纯合子TT基因型频率分别为34.2%、55.1%、10.7%,实验组中3种基因型频率分别为26.7%、50.2%、23.1%,C677T各SNP基因型频率在实验组和对照组间分布差异有统计学意义（P＝0.002）,其中突变纯合子TT携带者发生肺癌风险是野生型CC的2.78倍[OR（95%CI）：2.78（1.54～5.02） , P＝0.001];MTHFR基因A1298C位点实验组AA、AC、CC基因型频率分别为34.2%、55.1%、10.7%,对照组分别为64.0%、32.0%、4.0%,两组间比较差异无统计学意义（P＝0.247）。单倍体分析结果显示,TA单倍型在实验组的分布频率明显高于对照组（43.1%与35.3%）,两组比较差异有统计学意义[OR（95%CI）：1.39（1.06～1.81）,P＝0.016];而CC单倍型在实验组和对照组的分布频率分别为10.6%、17.1%,差异有统计学意义[OR（95%CI）：0.58（0.39～0.85）,P＝0.005]。MTHFR基因677和1298两位点之间存在连锁不平衡关系（D＇＝0.48,P＝0.003）。对MTHFR基因C677T多态性进行基因-环境相互作用分析显示：TT与CC基因型相比,年龄大于60岁[OR（95%CI）：4.0（1.78～9.32）, P＝0.001]、男性[OR（95%CI）：5.55（2.10～14.67）,P＝0.000]、吸烟[OR（95%CI）：8.13（2.29～28.85） , P＝0.000]、小细胞肺癌[OR（95%CI）：1.28（1.10～1.44） ,P＝0.000]均可使肺癌的发病风险增加;CT与CC基因型相比,女性[OR（95%CI）：2.09（1.05～4.16）,P＝0.030]、不吸烟人群[OR（95%CI）：2.43（1.25～4.74）,P＝0.008]、小细胞肺癌[OR（95%CI）：0.31（1.16～1.59）,P＝0.000]的肺癌患病风险也增加。结论MTHFR基因C677T是肺癌发病的遗传易感基因,且与肺癌发病风险有关。     

昆明地区汉族H型高血压MTHFR基因C677T多态性及其相关危险因素的分析

目的探讨高血压相关因素、血清同型半胱氨酸(Hcy)水平及亚甲基四氢叶酸还原酶(MTHFR)基因C677T多态性与昆明地区汉族人群H型高血压的相关性,为该地区H型高血压的防治和个体化治疗提供基础信息。方法用等位基因特异性-聚合酶链反应(AS-PCR)对H型高血压组(111例)、非H型高血压组(112例)、正常对照组(119名)进行MTHFR基因C677T多态性检测,同时测定血清Hcy水平,对H型高血压发生相关因素进行Logistic回归分析。结果正常对照组MTHFR基因C677T CC、CT、TT基因型频率分别为49.6%、36.1%、14.3%;H型高血压组患者CC、CT、TT基因型频率分别为24.3%、50.5%和25.2%。非H型高血压组患者CC、CT、TT基因型频率分别为45.5%、35.7%、18.8%。H型高血压组患者CT和TT突变基因型分布频率高于非H型高血压组和正常对照组(P0.05)。H型高血压发生相关因素的Logistic回归分析结果显示,年龄、MTHFR基因C677T位点突变、高血压家族史、饮酒是昆明地区汉族H型高血压发病的危险因素,其中MTHFR基因C677T位点突变导致H型高血压病发生的危险性是对照人群的2.701倍(P0.05),高于其他因素。结论昆明地区汉族健康人群和高血压患者中,MTHFR基因C677T位点等位基因和基因型多态性分布频率具有地区特征性。在昆明地区汉族人群中,MTHFR基因C677T位点突变在H型高血压的发生机制中可能具有重要作用。     

河南汉族人群MTHFR基因多态性与肺癌的关系

目的 探讨河南地区汉族人群5,10-亚甲基四氢叶酸还原酶（methylenetetrahydrofolate reductase,MTHFR）氨基酸突变位点C677T和A1298C基因多态性分布与肺癌发生的关系。方法 202例肺癌患者（肺癌组）和202例体检健康者（对照组）,2组采用限制性片段长度多态性酶切技术检测MTHFR基因型,分析MTHFR基因C677T和A1298C位点基因频率分布特点。结果 肺癌组MTHFR基因C677T位点CC、CT、TT基因亚型分布频率分别为26.7%、50.5%、22.8%,对照组分别为34.2%、55.4%、10.4%,CC、CT亚型与对照组比较差异无统计学意义（P〉0.05）,TT基因亚型与对照组比较差异有统计学意义（P〈0.05）;携带TT基因型患肺癌的风险比值比为2.542,95%CI为1.453~4.444;肺癌组MTHFR基因A1298C位点AA、AC、CC基因亚型分布频率分别为27.2%、52.5%、20.3%,对照组分别为32.2%、50.5%、17.3%,2组比较差异均无统计学意义（P〉0.05）。结论 MTHFR基因C677T基因TT亚型与肺癌的发病明显相关,未发现A1298C基因多态性与肺癌的发生有相关性。     

叶酸水平、MTHFR基因C677T多态性与宫颈癌的相关性研究

目的探讨血清叶酸及5,10-亚甲基四氢叶酸还原酶(MTHFR)基因C677T多态性与宫颈癌易感性的相关作用。方法收集82例宫颈癌患者和82例对照者,均为HPV-16阳性,应用聚合酶链反应和限制性片段长度多态性分析(PCR-RFLP)方法检测MTHFR基因C677T多态性,同时采用电化学发光法检测血清叶酸水平,对二者与宫颈癌易感性的相关性进行分析。结果病例组血清叶酸水平(8.63±5.63)μg/L低于对照组(10.84±5.99)μg/L,差异有统计学意义(t=2.43,P=0.016);两组人群的MTHFR基因C677T均为杂合型(CT)频率最高,病例组人群纯合型(TT)高于野生型(CC),与对照组不一致(χ~2=7.529,P=0.023);病例组T等位基因频率高于C等位基因,与对照组不一致(χ~2=5.903,P=0.015)。与野生型(CC)人群相比,纯合型(TT)人群患宫颈癌的危险性显著增高(OR=3.485,95%CI:1.331～9.122),而杂合型(CT)人群未发现显著影响(OR=1.752,95%CI:0.810～3.789);在叶酸充足人群中,MTHFR基因型为纯合型(TT)的人群患宫颈癌的危险为野生型(CC)人群的2.057倍(95%CI:0.455～9.304),而叶酸不充足且MTHFR基因型为纯合型(TT)的人群患宫颈癌的危险则上升为4.354倍(95%CI:1.195～15.865)。结论 MTHFR基因C677T多态性是宫颈癌发生的易感因素,纯合型(TT)可增加宫颈癌发生的危险,尤其在低叶酸水平人群中发生风险最高。     

SNP基因芯片方法的建立及在MTHFR多态性检测中的初步应用

目的 建立单核苷酸多态性（SNP）的基因芯片检测法,并初步应用于结直肠癌患者MTHFR基因位点C677T的多态性检测,分析其位点突变与致病性的关系.方法 采用醛基修饰玻璃基片,阵列检测亚甲基四氢叶酸还原酶（MTHFR）C677T基因型,生物素标记显色.应用该芯片检测78例结直肠癌患者及40例健康对照组MTHFR基因C677T多态性,并分析MTHFR基因多态性与结直肠癌的相关性.结果 建立检测MTHFR基因SNP的基因芯片.采用基因芯片法检测病例组中MTHFR基因的C677T位点CC、CT、TT基因型分布频率分别为38.5%、53.8%、7.7%,健康对照组中C677T位点CC、CT、TT基因型分布频率分别为35.0%、62.5%、2.5%.结论 成功建立检测SNP的基因芯片法.MTHFR基因位点C677T的基因多态性与结肠癌易感性无明显关系.     

北京地区汉族人群MTHFR C677T基因多态性分析

目的探索北京地区汉族MTHFR基因多态性分布特征,荟萃(meta)分析北京地区与北方其他地区MTHFR基因多态性分布差异。方法用PCR-金磁微粒层析法检测MTHFR C677T基因,回顾性分析北京协和医院2014年9月至2018年5月3 945例体检健康者MTHFR基因多态性分布特征。查阅中外文献数据库,并对北京地区与北方其他地区汉族的MTHFR基因多态性分布比较。结果北京地区体检健康人群男性MTHFR C677T基因CC、CT和TT基因型频率分别为23.3%,50.5%和26.2%,C、T等位基因频率分别为48.6%和51.4%。女性人群MTHFR C677T基因CC、CT和TT基因型频率分别为22.7%,49.4%和27.9%,C、T等位基因频率分别为47.4%和52.6%,男、女性基因型频率与等位基因频率差异无统计学意义(P0.05)。北京地区体检人群MTHFR C677T基因CC、CT和TT基因型频率与等位基因频率均与黑龙江、吉林、河北、山东和河南等省差异有统计学意义(P0.01)。结论北京地区体检人群MTHFR C677T基因多态性在男、女性人群中的分布无差异;北京地区MTHFR基因分布有自身特点。     

中国人群MTHFR基因C677T多态性与青中年缺血性脑卒中相关性的Meta分析

目的系统评价中国人群中N5,N10-亚甲四氢叶酸还原酶(MTHFR)基因677位点单核苷酸多态性(C677T)与青中年缺血性脑卒中易感性的相关性。方法计算机检索PubMed、EMbase、h e Cochrane Library(2013年第11期)、CBM、CNKI、VIP及WanFang Data,收集相关中国人群MTHFR基因C677T多态性与青中年缺血性脑卒中关系的病例-对照研究,检索时限均为从各数据库建库至2013年11月。由2位评价者按照纳入与排除标准独立筛选文献、提取资料并评价纳入研究的方法学质量后,采用RevMan 5.2进行Meta分析,并采用Stata 12.0进行敏感性分析和发表偏倚评估。结果共纳入10个病例-对照研究,合计病例787例,对照766例。Meta分析结果显示:在青中年组(年龄<60岁)中,携带T等位基因的人群相对于C等位基因的人群,缺血性脑卒中易感性增加[OR=1.42,95%CI(1.07,1.89),P=0.02];基因型为TT的人群缺血性脑卒中发病风险高于基因型为CC者[OR=2.11,95%CI(1.58,2.81),P<0.000?01];显性模型中TT+TC基因型的人群发病风险高于CC基因型的人群[OR=1.97,95%CI(1.55,2.51),P<0.000?01];隐形模型中TT基因型者发病风险同样高于TC+CC基因型者[OR=1.42,95%CI(1.13,1.77),P=0.003]。而在青年组(年龄<45岁),显性遗传模型的TT+TC基因型者相对于CC基因型者显示出更高的发病风险[OR=1.66,95%CI(1.19,2.32),P=0.003]。结论 MTHFR基因C677T多态性与中国人群青中年缺血性脑卒中的发病具有显著相关性,677T的存在增加发病风险。     

脑卒中患者MTHFR基因多态性与H型高血压的相关性

目的 研究脑卒中患者中亚甲基四氢叶酸还原酶(MTHFR) C677T基因多态性和基因分布频率,探讨MTHFR基因多态性与H型高血压及血清同型半胱氨酸(Hcy)的相关性。方法 选取2018年7月至2018年12月在中国科学技术大学附属第一医院神经内科住院的122例患有高血压的脑卒中住院患者。查询病历系统采集患者基线及生化资料,采用PCR-芯片法对MTHFR C677T基因多态性检测,按照基因型将患者分为三组(CC、CT和TT)。结果 研究人群中有72%为H型高血压,男性患者多于女性,差异有统计学意义(P 0. 05);男性患者MTHFR C677T突变位点T等位基因频率为56. 04%高于女性患者40. 32%T等位基因频率,差异有统计学意义(P 0. 05); TT基因型患者血清Hcy水平高于CT和CC基因型患者,与之相反,TT基因型患者叶酸和维生素B12水平低于CT和CC基因型患者,差异有统计学意义(P 0. 05); TT组存在高同型半胱氨酸患者频率高于CT组和CC组,差异有统计学意义(P 0. 05)。结论 MTHFR C677T基因多态性是H型高血压的重要遗传风险因素,对脑卒中高血压患者MTHFR C677T基因型检测有助于临床精准诊疗。     

MTHFR基因C677T多态性与中国人群短暂性脑缺血发作无关

目的：了解亚甲基四氢叶酸还原酶（MTHFR）基因C677T多态性与中国人群短暂性脑缺血发作（TIA）之间的关系。方法：利用多聚酶链反应和分子杂交技术对该位点在中国人群TIA患者（99例，TIA组）中的分布进行检测和分析，并与无TIA史的对照组人群（104例，对照组）进行比较。结果：MTHFR基因C677T多态性在2组受试者中的分布符合Hardy—Weinberg遗传平衡定律，CC、CT及TT3种基因型在TIA组分布频率分别为31．3％、42．4％和26．3％，对照组分别为19．2％、53．9％和26．9％；2组人群C677等位基因频率分别为52．5％与46．2％，2组比较均差异无统计学意义。结论：MTHFR基因C677T多态性与中国人群TIA发病无关。     

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.     

Dissociable correlates of two classes of retrieval processing in prefrontal cortex

Although substantial evidence suggests that the prefrontal cortex (PFC) implements processes that are critical for accurate episodic memory judgments, the specific roles of different PFC subregions remain unclear. Here, we used event-related functional magnetic resonance imaging to distinguish between prefrontal activity related to operations that (1) influence processing of retrieval cues based on current task demands, or (2) are involved in monitoring the outputs of retrieval. Fourteen participants studied auditory words spoken by a male or female speaker and completed memory tests in which the stimuli were unstudied foil words and studied words spoken by either the same speaker at study, or the alternate speaker. On "general" test trials, participants were to determine whether each word was studied, regardless of the voice of the speaker, whereas on "specific" test trials, participants were to additionally distinguish between studied words that were spoken in the same voice or a different voice at study. Thus, on specific test trials, participants were explicitly required to attend to voice information in order to evaluate each test item. Anterior (right BA 10), dorsolateral prefrontal (right BA 46), and inferior frontal (bilateral BA 47/12) regions were more active during specific than during general trials. Activation in anterior and dorsolateral PFC was enhanced during specific test trials even in response to unstudied items, suggesting that activation in these regions was related to the differential processing of retrieval cues in the two tasks. In contrast, differences between specific and general test trials in inferior frontal regions (bilateral BA 47/12) were seen only for studied items, suggesting a role for these regions in post-retrieval monitoring processes. Results from this study are consistent with the idea that different PFC subregions implement distinct, but complementary processes that collectively support accurate episodic memory judgments.     

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.     

Interprofessional approaches to creating safe,high quality health care

Three supplementary perspectives are presented arguing that interprofessional collaboration is both necessary and desirable. Nonetheless, there are often too many serious intra-professional barriers and obstacles to interprofessional collaboration to make it successful. Some of these barriers, it is argued and illustrated, are found in the multiple ways in which professional identity is tacitly acquired and embodied in the practitioners' habitual, everyday practice. The paper then explores ways in which reflection, especially Second order reflection, can help to elucidate and overcome these obstacles, as well as increasing professional adaptability and competence.     

Modified micro-superior percutaneously-assisted total hip: early experiences & case reports

Because of the extensile nature and familiarity of the standard posterior-lateral approach to the hip, a family of "micro-posterior" approaches has been developed. This family includes the Percutaneously-Assisted Total Hip (PATH) approach, the Supercapsular (SuperCap) approach and a newer hybrid approach, the Supercapsular Percutaneously-Assisted Total Hip (SuperPATH) approach. Such approaches should ideally provide a continuum for the surgeon: from a "micro" (external rotator sparing) posterior approach, to a "mini" (external rotator sacrificing) posterior approach, to a standard posterior approach. This could keep a surgeon within his comfort zone during the learning curve of the procedure, while leaving options for complicated reconstructions for the more practiced micro-posterior surgeons. This paper details one author's experiences utilizing this combined approach, as well as permutations of this entire micro-posterior family of approaches as applied to more complex hip reconstructions.     

Determination of creatine kinase isoenzyme MB activity in serum using immunological inhibition of creatine kinase M subunit activity. Activity kinetics and diagnostic significance in myocardial infarction.

This is a new method for the determination of creatine kinase isoenzyme MB activity in serum. The method uses direct activity measurement of creatine kinase B subunit activity after blocking of CK-M subunit activity by inhibiting antibodies. The test takes no longer than 15 min. The method yields an intra-serial C.V. of 2.0-12.9%, and a C.V. from day to day of 5.5%. The detection limit is 3.4 U/l creatine kinase MB. In the 95 cases with proven myocardial infarction several types of creatine kinase MB activity kinetics could be determined. The percentage of creatine kinase MB of peak CK-total is 6-25%, with a mean of 11.1%. The amount of creatine kinase MB with respect to total CK activity after reinfarction is higher than the amount after initial infarction.     

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.