金属蛋白酶2基因-1306C/T多态性与冠心病的关系

目的:研究金属蛋白酶2(MMP-2)基因-1306C/T多态性与冠心痛(CAD)发病的相关性.方法:采用基质辅助激光解吸电离飞行时间质谱技术(MALDI-TOF MS),检测283例冠心病患者与161例对照组人群MMP-2基因-1306C/T位点的基因型和等位基因的分布.结果:MMP-2基因-1306C/T位点基因型频率及等位基因频率在两组分布差异有统计学意义(P＜0.01),经Logistic回归分析后,CC基因型携带者患冠心病风险是T等位基因携带者(CT+TT)的2.038倍(OR=2.038,95％CI=1.193-3.481,P＜0.01).结论:MMP-2基因-1306C/T位点与冠心病发病的危险性相关,CC基因型可能是冠心病发病的遗传危险因素.     

转化生长因子-β1与冠状动脉支架内再狭窄关系的探讨

目的探讨转化生长因子(TGF)-β1血浆水平及TGF-β1基因-509C/T单核苷酸多态性(SNP)与重庆地区汉族人群经皮冠状动脉介入治疗术后支架内再狭窄(ISR)发生的关系。方法回顾性纳入冠状动脉支架术后行冠状动脉造影随访的患者368例,根据复查造影的结果将其分为ISR组152例和无再狭窄(NISR)组216例。酶联免疫吸附试验检测血浆TGF-β1水平,采用聚合酶链反应-限制片段长度多态性及基因测序的方法检测TGF-β1基因-509C/T多态的基因型。结果 TGF-β1基因-509C/T多态的3种基因型和等位基因分布频率ISR组和NISR组差异均有统计学意义(P0.05),TT基因型和T等位基因在ISR组所占比例显著增加,与NISR组差异有统计学意义(P0.05);血浆TGF-β1水平ISR组高于NISR组,差异有统计学意义(P0.05),ISR组TGF-β1基因-509C/T多态TT和CT基因型携带者血浆TGF-β1水平均显著高于NISR组,差异有统计学意义(P0.05),各组内TT基因型血浆TGF-β1水平均高于CC和CT基因型,CT基因型又高于CC基因型,组内比较差异均有统计学意义(P0.05)。Logistic回归分析显示,TT基因型、T等位基因(CT+TT基因型)和血浆TGF-β1是ISR发生的独立危险因素(OR值分别为1.82、1.61和2.01,P0.05)。结论高血浆TGF-β1水平、TT基因型及T等位基因携带者显著增加ISR的风险。     

湖南地区冠心病患者MTHFR C677T基因多态性与血浆同型半胱氨酸及血脂水平关系的研究

目的分析湖南地区中老年冠心病患者亚甲基四氢叶酸还原酶(MTHFR)C677T基因多态性与血浆同型半胱氨酸(Hcy)及血脂水平的相关性,为该地区研究冠心病病因、发病机制及诊断提供参考。方法以该院351例初诊为冠心病的患者为研究对象,并设置健康对照组147例,分别检测各组血浆Hcy及血脂水平,并采用PCR-金磁微粒层析法测定MTHFR C677T基因型,统计分析冠心病患者MTHFR C677T基因型及各基因型与血浆Hcy及血脂水平的相关性。结果冠心病组的血浆Hcy水平,MTHFR C677T基因CC、CT、TT三种基因型频率和C、T两种等位基因频率与健康对照组相比,差异有统计学意义(P0.05);冠心病组TT型、CT型血浆Hcy水平高于CC型,健康对照组的TT型血浆Hcy水平明显高于CT、CC型,差异有统计学意义(P0.05)。结论 MTHFR C677T基因多态性是冠心病发病的危险因素,与血浆Hcy水平密切相关,TT型纯合突变和T等位基因使Hcy水平显著升高,而血脂水平与MTHFR C677T基因多态性无明显相关性。因此,血浆Hcy水平及MTHFR C677T多态性可以作为该地区研究冠心病病因、发病机制及其遗传机制的重要参考指标。     

蛋白酶体α6亚单位基因1233A/T位点多态性与脑梗死的关系

目的探讨中国汉族人群中蛋白酶体α6亚单位(PSMA6)基因1233A/T(-1520C/T)位点的多态性与脑梗死的相关性。方法 2012年1月至2015年4月,选择脑梗死患者211例(病例组)和健康体检者201例(对照组),应用聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP)检测PSMA6基因1233A/T位点单核苷酸多态性,并分析其基因型及等位基因频率在脑梗死患者和正常人群中的分布特点。结果两组CC、CT+TT基因型频率及C、T等位基因频率均无显著性差异(χ20.053, P 0.05)。性别分层后,无论男性、女性,两组CC、CT、TT基因型频率和C等位基因频率均无显著性差异(χ22.735, P 0.05)。结论 PSMA6基因1233A/T位点可能与脑梗死的发病无关。     

ATM基因rs227060位点单核苷酸多态性与肺癌易感性的相关性

目的:探讨共济失调毛细血管扩张症突变基因(ataxia telangiectasia mutated,ATM)rs227060位点单核苷酸多态性(single nucleotide polymorphisms,SNPs)与肺癌易感性之间的相关性。方法:采用聚合酶链反应–SNP敏感性分子开关方法,检测225例肺癌患者和128例健康体检者ATM基因rs227060多态位点等位基因以及基因型频率分布特点;并应用非条件Logistic回归法统计分析rs227060单核苷酸多态性与肺癌的相关性。结果:rs227060多态位点共检测出CC,CT,TT三种基因型和C,T两种等位基因,其在肺癌组与对照组的基因型分布频率为:CC基因型17.3%与29.7%、CT基因型61.4%与59.3%、TT基因型21.3%与11%,两组间基因型频率和等位基因频率分布差异均有统计学意义(P0.05)。在对ATM rs227060基因型的多态性分析过程中发现:吸烟史在肺癌组与对照组相比差异无统计学意义(P0.05),而年龄、性别、肿瘤家族史在肺癌组与对照组相比差异均有统计学意义(P0.05);且以CC基因型作为对照,携带TT基因型的个体患肺癌的风险是携带CT基因型个体的3.49倍(OR=1.829;95%CI:1.045~3.199)。结论:ATM基因rs227060位点单核苷酸多态性与肺癌易感性存在相关性,且携带TT基因型可增加肺癌的发病风险。     

CYP1182-344T/C基因多态性与2型糖尿病肾病的关系

目的:研究2型糖尿病(T2DM)患者CYPlIB2.344T/C基因多态性与糖尿病肾病(DN)的相关性以及与DN不同分期的关系.方法:将145例12DM患者分为DN组73例和糖尿病非肾病组(NDN组)72例,另选择52例门诊体验健康人为正常对照组(NC组).应用聚合酶链反应一限制性内切酶片段长度多态性(PCR-RFLP)对以上197例观察对象进行基因型分析.结果:(1)DN患者存在CYPllB2-344T/C多态性.本研究197例观察对象中CYP11B2-344T/C多态性存在CC、CT、TT3种基因型,频率分别为12.7%、50.3%、37.1%;C、T等位基因频率分别为31.2%、68.8%.(2)DN组CYPllB2.344T/C T等位基因频率明显高于NC组(P<0.05).(3)DN组CYP11B2-344T/C多态性CC、CT、TT3种基因型各临床指标均数比较差异无显著性(均P0.05).(4)DN组内微量白蛋白尿期、临床白蛋白尿期和肾功能不全期CC、TT、CT基因型频率和C、T等位基因频率差异均无显著性(均P0.05).(5)CYP11B2-344T/C基因型与DN无相关性(P0.05).(6)DN患者TT基因型血浆醛固酮水平最高.结论:CYP1182-344T/C多态性与2型糖尿病肾病无显著相关性.     

DNA损伤修复基因多态性与308 nm准分子激光治疗白癜风疗效的相关性分析

[目的]探讨DNA损伤修复基因多态性与308 nm准分子激光治疗白癜风疗效的相关性.[方法]选择2015年7月至2016年7月确诊的白癜风患者66例,所有患者均接受308 nm准分子激光治疗,治疗前清晨空腹抽取患者外周血1 mL以提取基因组DNA,通过直接测序法对ERCC1 C118T、XPC Lys939Gln这2个SNP位点行基因分型,分析DNA损伤修复基因多态性与白癜风疗效的相关性.[结果]66例患者治疗时间4个月及以下占39.39％,复色面积50％以上占34.85％,首次复色时间1个月及以下占75.76％.ERCC1 C118T rs11615与患者复色效果、首次复色时间及治疗时间均相关(P＜0.05),其中CC基因型复色面积50％以上、首次复色时间1个月及以下、治疗时间1个月及以下比例均明显大于CT+ TT基因型,差异有统计学意义(P＜0.05);而XPCLys939Gln该SNP位点与患者复色效果无关(P＞0.05).[结论]ERCC1 C118T该SNP位点与接受308nm准分子激光治疗效果显著相关,相比CT+TT基因型,CC基因型复色效果更明显;XPC Lys939Gln该SNP位点对治疗效果影响不大.     

TLR-9基因启动子单核苷酸多态性与慢性阻塞性肺疾病的相关性研究

目的:探讨Toll样受体9(TLR-9)基因启动子单核苷酸多态性与慢性阻塞性肺疾病(COPD)的相关性,以期为COPD高危人群的筛选、早期预防和治疗提供理论依据。方法:采用病例对照、聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法,分别对53例COPD患者和55名健康对照者TLR-9基因启动子单核苷酸多态性进行分析。结果:COPD组和对照组均存在-1486 C/T多态性,基因型以TC最多,TT和CC次之,两组基因型无明显差异(P0.05),COPD组C位等位基因频率明显高于对照组(P=0.004);未发现COPD组和对照组存在-1237 C/T多态性。结论:汉族人群TLR-9基因-1486 C/T存在多态性,与COPD易感性无明显相关;汉族人群TLR-9基因-1486位点的C等位基因频率在COPD患者中明显升高。     

MTHFR C677T基因多态性与老年心力衰竭患者心室重构的相关性

目的探讨MTHFR C677T基因的多态性分布,并分析与老年心力衰竭(HF)患者心室重构的相关性。方法入选诊断为老年HF患者98例(HF组),同期查体健康者40例为对照组。所有入选对象利用直接基因测序方法检测MTHFR C677T基因多态性,同时检测血浆同型半胱氨酸(Hcy)、脑钠肽(NT-pro BNP)水平。测量左心室舒张末内径(LVDd)、左心室后壁厚度(LVPWT)、室间隔厚度(IVST)及测算左心室射血分数(LVEF),计算左心室质量指数(LVMI)。结果 HF组TT基因型频率和T等位基因频率明显高于对照组(P0.05);HF组Hcy、LVMI、NTpro BNP均高于对照组,LVEF低于对照组(P0.05);不同MTHFR C677T基因型者其血浆Hcy水平差异有统计学意义(P0.05)。HF组伴左心室肥厚组,TT基因型频率及T等位基因频率高于HF组不伴左心室肥厚组。HF组TT基因型患者LVMI高于CT及CC基因型患者,而LVEF则低于CT及CC基因型患者。结论MTHFR C677T基因型与老年HF患者心室重构相关,TT基因型及T等位基因的老年HF患者发生心室重构的可能性大。     

河南汉族人群MTHFR基因多态性及同型半胱氨酸与冠心病关系研究

目的探讨河南地区汉族人群5,10-亚甲基四氢叶酸还原酶(5,10-methylenetetrahydrofolate reductase,MTHFR)C677T多态性及血清同型半胱氨酸水平与冠心病的相关性。方法河南汉族308例冠心病患者(冠心病组)和296例体检健康者(对照组),2组采用全自动生化分析仪检测血清同型半胱氨酸(homocysteine,Hcy)水平,采用PCR-测序技术检测MTHFR基因型。结果冠心病组血清Hcy水平[(16.98±10.16)μmol/L]明显高于对照组[(11.87±7.69)μmol/L](P0.05);冠心病组和对照组TT基因型血清Hcy水平[(21.03±10.37)、(15.07±4.36)μmol/L]明显高于CT型[(16.58±8.87)、(12.86±4.37)μmol/L]及CC型[(13.16±6.97)、(10.18±4.83)μmol/L](P0.05),CT型明显高于CC型(P0.05);冠心病组MTHFR C677TTT基因型频率(32.8%)明显高于对照组(18.6%),CC基因型频率(19.5%)明显低于对照组(36.8%)(P0.05);携带TT基因型是患冠心病的独立危险因素(OR=2.138,95%CI:1.466~3.118,P=0.000)。结论河南汉族人群MTHFR基因多态性及Hcy水平与冠心病的发生相关。     

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.     

俯卧位通气对高海拔地区肺复张治疗无效急性呼吸窘迫综合征患者氧合的影响

目的 探讨俯卧位通气对高海拔地区肺复张术(RM)治疗无效急性呼吸窘迫综合征(ARDS)患者的治疗作用.方法 从海拔2260m的地区医院筛选RM治疗无效的41例ARDS患者[平均氧合指数( PaO2/FiO2)较RM前升高＜20％视为RM无效],依不同病因分为肺内源性ARDS组(ARDSp组)和肺外源性ARDS组(ARDSexp组),每组再按信封法随机分为俯卧位组和仰卧位组,即ARDSp俯卧位组(11例)、ARDSp仰卧位组(9例)、ARDSexp俯卧位组(10例)、ARDSexp仰卧位组(11例).在通气前及通气1、2、3、4h监测动脉血氧分压( PaO2)、PaO2/FiO2、静态顺应性(Cst)、气道阻力(Raw)的变化.结果 通气lh时,ARDSexp俯卧位组PaO2/FiO2( mm Hg,l mm Hg=0.133 kPa)即较通气前显著升高(157.4±40.6比129.3±48.7,P＜0.05),并随通气时间延长呈持续增高趋势,4h达峰值(219.1 ±41.1);且ARDSexp俯卧位组通气3h内PaO2/FiO2较其他3组显著增高,另3组间则差异无统计学意义.ARDSp俯卧位组、ARDSexp俯卧位组通气4h时PaO2/FiO2均较相应仰卧位组显著增高(208.8±39.7比127.4±47.1,219.1±41.1比124.9±50.8,均P＜0.05).4组通气前后Cst无显著改变,各组间差异也无统计学意义.ARDSp俯卧位组通气4h时Raw(cmH2O·L-1·s-1)较通气前显著降低(6.8±1.7比10.7±1.8,P＜0.05),且明显低于其他3组;其他3组各时间点Raw组内及组间比较差异均无统计学意义.结论 俯卧位通气作为ARDS机械通气重要策略之一,可以改善RM无效高原ARDS患者的氧合,为抢救患者赢得宝贵的时间.     

Digital imaging among medical facilities

The Department of Veterans Affairs (VA) in the USA operates a network of 172 medical centres which all utilize a hospital information system (HIS) which has been developed and is currently maintained by the VA. During the past several years, an image management and communication module has been developed, installed and clinically utilized at the Washington DC and Maryland VA Medical Centres. This image management and communication system, referred to as the decentralized hospital computer program (DHCP) imaging system, is fully integrated with a commercial picture archiving and communication system (PACS). The system is utilized to capture, archive, and display all images generated within the hospital including radiology, nuclear medicine, pathology, endoscopy, bronchoscopy, and dermatology, intraoperative photographs, ECG data, and a limited number of paper documents. The ultimate goal of the project is to have all patient text and image data available at any clinical workstation to any authorized user anywhere within the network of medical centres. Clinical requirements for an imaging workstation include ease of use, rapid and reliable access to the complete set of patient information, and images which are of acceptable quality to meet the requirements of the user and the subspecialty. Patient confidentiality and data security must be safeguarded at all times. Integration of the images with the remainder of the patient's database was found to be critical to the success of the project. The experience at the Washington and Maryland facilities suggests that an imaging system that is successfully integrated with a hospital information system can provide substantial clinical and economic benefits both within and among medical centres. Clinical acceptance and utilization of the system has been excellent, particularly in diagnostic radiology where DHCP Imaging has been interfaced to a commercial PAC system. Based upon this initial experience, the VA has begun to deploy the system throughout its large network of medical centres.     

Myocardial elastography at both high temporal and spatial resolution for the detection of infarcts

Myocardial elastography is a novel method for noninvasively assessing regional myocardial function, with the advantages of high spatial and temporal resolution and high signal-to-noise ratio (SNR). In this paper, in-vivo experiments were performed in anesthetized normal and infarcted mice (one day after left anterior descending coronary artery [LAD] ligation) using a high-resolution (30 MHz) ultrasound system (Vevo 770, VisualSonics Inc., Toronto, ON, Canada). Radiofrequency (RF) signals of the left ventricle (LV) in longitudinal (long-axis) view and the associated electrocardiogram (ECG) were simultaneously acquired. Using a retrospective ECG gating technique, 2-D full field-of-view RF frames were acquired at an extremely high frame rate (8 kHz) that resulted in high-quality incremental displacement and strain estimation of the myocardium. The incremental results were further accumulated to obtain the cumulative displacements and strains. Two-dimensional and M-mode displacement images and strain images (elastograms), as well as displacement and strain profiles as a function of time, were compared between normal and infarcted mice. Incremental results clearly depicted cardiac events including LV contraction, LV relaxation and isovolumetric phases in both normal and infarcted mice, and also evidently indicated reduced motion and deformation in the infarcted myocardium. The elastograms indicated that the infarcted regions underwent thinning during systole rather than thickening, as in the normal case. The cumulative elastograms were found to have higher elastographic SNR (SNR(e)) than the incremental elastograms (e.g., 10.6 vs. 4.7 in a normal myocardium, and 6.0 vs. 2.4 in an infarcted myocardium). Finally, preliminary statistical results from nine normal (m = 9) and seven infarcted (n = 7) mice indicated the capability of the cumulative strain in differentiating infracted from normal myocardia. In conclusion, myocardial elastography could provide regional strain information at simultaneously high temporal (>/=0.125 ms) and spatial ( approximately 55 microm) resolution as well as high precision ( approximately 0.05 microm displacement). This technique was thus capable of accurately characterizing normal myocardial function throughout an entire cardiac cycle, at the same high resolution, and detecting and localizing myocardial infarction in vivo.     

Clinical Pharmacokinetics of Morphine

Morphine, the most widely used mu-opioid analgesic for acute and chronic pain, is the standard against which new analgesics are measured. A thorough understanding of the pharmacokinetics of morphine is required in order to safely and effectively use this analgesic in a wide variety of patients with different levels of organ function. A MEDLINE search was conducted to identify literature published between 1966 and January 2002 relevant to the pharmacokinetics of morphine. These publications were reviewed and the literature summarized regarding unique and clinically important elements of morphine disposition relative to its parenteral administration (including intravenous, intramuscular, subcutaneous, epidural and intrathecal administration), absorption profile (immediate release, controlled release, and sublingual/buccal, and rectal administration), distribution, and its metabolism/ excretion. Special populations, including infants, elderly, and those with renal/liver failure, have a unique morphine pharmacokinetic profile that must be taken into account in order to maximize analgesic efficacy and reduce the risk of adverse events.     

手转胎头术失败的原因与分娩结局临床分析

目的 探讨手转胎头术失败的原因与分娩结局.方法 选择2008年1月至2010年12月于我院住院分娩的持续性枕横位、枕后位产妇198例,根据行手转胎头术后结果分为成功组126例、失败组72例.比较两组分娩结局,对比分析失败原因.结果 失败组胎儿体质量≥3500 g的发生率[76.4％(55/72)]明显高于成功组[31.7％(40/126)],差异有统计学意义(x2=30.177,P=0.001)、失败组宫缩乏力发生率[58.3％(42/72)]高于成功组[38.1％ (48/126)],差异有统计学意义(x2=7.569,P=0.006)、失败组骨盆临界或轻度狭窄发生率[38.9％ (28/72)]高于成功组[23.8％(30/126)],差异有统计学意义(x2 =5.030,P=0.002)、失败组手转胎头时机不当(宫口开大＜6 cm、胎头位于坐骨棘上及宫口开大8～10 cm、胎头位于坐骨棘下≥2 cm)发生率[61.1％(44/72)]高于成功组[38.9％(49/126)],差异有统计学意义(x2=9.084,P=0.003).失败组母儿并发症(产后出血、产褥病率、胎儿窘迫、新生儿窒息)发生率高于成功组(x2 =9.586,P=0.002、x2=9.334,P=0.002、x2=5.910,P=0.015、x2=5.240,P=0.022)、失败组剖宫产发生率[72.2％(52/72)]明显高于成功组[34.1 ％(43/126),x2=26.641,P=0.001)].结论 手转胎头术能使难产变顺产,降低剖宫产率,减少母儿并发症,但须积极预防、处理导致手转胎头术失败的原因,对矫正失败后继续矫正及试产应慎重.     

Evidence-Based Pain Management and Palliative Care in Issue Four for 2009 of The Cochrane Library

ABSTRACT

The Cochrane Library of Systematic Reviews is published quarterly. Issue 4 for 2009 contains 4027 complete reviews, 1906 protocols for reviews in production, and 11447 one-page summaries of systematic reviews published in the general medical literature. In addition, there are citations of 600,000 randomized controlled trials, and 12,200 cited papers in the Cochrane methodology register. The health technology assessment database contains over 7500 citations. This edition of the Library contains 90 new reviews, of which 19 have potential relevance for practitioners in pain and palliative medicine.     

Wie zuverlässig sind Angaben zu nichtentzündlichen ausgedehnten Schmerzen?

ZusammenfassungFragestellung Es wurde geprüft, wie sich der Differenziertheitsgrad zweier Schmerzmessmethoden auf Angaben zur Ausgedehntheit klinischer Schmerzen auswirkt. Zugleich wurde der Referenzzeitraum variiert, über den die Patienten berichten sollten.Methode Erfasst wurde der Einfluss zu Lasten der Befragungsdifferenziertheit durch den Vergleich zweier Körperschema-Bildvorlagen. Drei Referenzzeiträume (Schmerz aktuell, letzte Woche, letztes halbes Jahr) wurden vorgegeben.Ergebnisse Patienten mit ausgedehnten Schmerzen gaben bei differenzierter Befragung um so mehr Schmerzen an, je weiter die Schmerzen zurück lagen und je größer der Berichtszeitraum war. Patienten mit gelenknahen Schmerzen gaben bei hoch differenzierter Befragung weniger ausgedehnte Schmerzen in der Vergangenheit an als bei globaler Einschätzung. Patienten mit Rückenschmerzen berichteten bei differenzierter Befragung zum aktuellen Schmerz über weniger ausgedehnte Schmerzen als bei globaler Befragung.Schlussfolgerung Die Angaben zur Schmerzausdehnung variieren vor allem bei Patienten mit ausgedehnten Schmerzen in Abhängigkeit von der Differenziertheit der Befragung. In diesen Fällen ist die Wahrscheinlichkeit erhöht, dass sich die Beschwerdesymptomatik zumindest teilweise erst in der Reaktion auf die situativen Befragungsbedingungen konstituiert und daher nicht auf andere Befragungsbedingungen generalisiert werden kann.