保定市中老年人群载脂蛋白E基因多态性与脑梗死遗传易感性关系的研究

目的检测并分析保定市中老年人群中载脂蛋白E（apoE）基因多态性,探讨apoE基因多态性与脑梗死遗传易感性的关系。方法采用聚合酶链式反应-限制性片段长度多态性（PCR—RFLP）技术,分析92例脑梗死患者和86例健康对照者apoE的3种等位基因ε2、ε3、ε4,做基因频率和基因型多态性分析。结果健康人群组apoE基因呈多态性,有6种基因型,即3种纯合子（ε2／2、ε3／3、ε4／4）和3种杂合子（ε2／3、ε3／4、ε2／4）。健康人群组apoE3种等位基因的基因频率分别为：ε25．8％、ε387．2％、ε47．0％;apoE基因型频率数为ε2／20、ε3／375．5％、ε4／41．2％、ε2／310．5％、ε2／42．3％、ε3／410．5％。脑梗死组apoE等位基因频率：ε24．3％、ε369．6％、ε426．1％;基因型频数：ε2／23％、ε3／342．3％、ε4／410．8％、ε2／311．9％、ε2／42％、ε3／430％。与健康人群组比较,脑梗死组ε3／3基因型频率较健康组明显降低,差异有统计学意义（P〈0．05）,ε4／4、ε3／4基因型频率较健康组明显升高,差异有统计学意义（P〈0．05）,ε2／2、ε2／3、ε2／4基因型频率较健康组差异无统计学意义（P〉0．05）。与健康组比较,脑梗死组ε3等位基因频率明显降低,差异有统计学意义（P〈0．05）,ε4等位基因频率明显升高,差异有统计学意义（P〈0．05）,ε2等位基因频率较健康组差异无统计学意义（P〉0．05）。结论保定市健康人群组apoEe3基因出现率最高,ε2和ε4频率较低,以ε3／3基因型最多,而ε2／2、ε4／4相对较少,脑梗死患者中ε3／3、ε2／3基因型频率较低,ε3对脑梗死可能具有保护作用。ε4等位基因频率在脑梗死患者中增高,ε4可能是脑梗死的易感因素和风险因素。     

银染单链构象多态性检测冠心病载脂蛋白E基因型

目的 ①建立一种简便、准确、实用的人栽脂蛋白E(apoE)基因型的检测方法；②研究冠心病(CHD)患者栽脂蛋白E基因多态性。方法 应用聚合酶链反应(PCR)特异性扩增apoE基因含编码112位和158位氨基酸的基因序列，用SS—SSCP技术进行apoE基因型分析。结果 运用SS—SSCP法检测了47名冠心痛患者apoE基因型，发现ε4／2、ε3／2、ε3／3、ε4／3、ε4／4基因频率分别为4．26％，14．89％，63．83％，12．76％，4．26％，并且发现ε2、ε3、ε4等位基因频率分别是9．57％，77．66％，12．77％。结论 ①该方法简单、快速、准确，对人体无害，适合于一般实验室开展；②ε4等位基因是CHD的易患因子之一，而ε3等位基因则具有保护作用。     

广东粤北地区瑶族载脂蛋白E基因多态性与血脂代谢的关系

目的检测广东粤北地区瑶族人群载脂蛋白E（apoE）基因多态性并探讨其与血脂代谢的关系。方法采用聚合酶链反应-限制性片段长度多态性方法（PCR-RFLP）对750例23～80岁广东粤北地区瑶族人群进行apoE基因多态性检测,分析瑶族人群apoE基因频率分布特点,并比较分析不同apoE基因型与血脂水平的关系。结果共检测瑶族apoE6种基因型,以E3／3型最常见,占61．47％,其次E3／4型,占23．07％,E2／3、E2／4、E4／4、E2／24种基因型分别占11．87％、1．73％、1．07％、0.8％;apoE有3种等位基因,以ε3分布频率最高,为81．4％,其次是ε4,分布的频率为9．6％,ε2分布频率最低,为9．0％;男性和女性apoE基因型分布无差异;ε4等位基因携带者的TG、TC、LDL、apoB水平显著高于E2携带者和ε3携带者（P〈0．05）。结论apoE基因多态性影响广东粤北地区瑶族人群的血脂代谢,apoEε4等位基因携带者的TG、TC、TC、LDL、apoB水平较高,推测ε4等位基因可能是瑶族人群患高脂血症的危险因素之一。     

早期复发性脑梗塞患者载脂蛋白E基因多态性分析

目的 探讨载脂蛋白E（apoE)基因多态性与早期脑梗塞复发的关系。方法 将年龄55－75岁之间脑梗塞患分为早期复发性脑梗塞与普通脑梗塞,和对照组三组分别以聚合酶链反应限制性片段长度分析法（PCR－RFLP）检测apoE基因型。结果 对照组apoE基因型以ε3／3最多,其次ε2／3,二组脑梗塞也以ε3／3最多,其次为ε3／4。二组病例ε3／4基因型、ε4等位基因频率均显高于对照组,尤以早期复发性脑梗塞组为突出,且其ε4等位基因频率明显高于普通脑梗塞组。结论 ApoEε4基因是脑梗塞的危险因素,并与脑梗塞早期复发有关。     

中国南方汉族人群STR位点遗传多态性研究及其在亲子鉴定中的应用

目的 调查中国南方汉族人群的D8Sll79、D21Sll、D18S51、D5S818、vWA、FGA、D3S1358、D13S317、D7S820等9个短串联重复(STR)位点多恋性，探索STR基因分析在亲子鉴定案例中的应用价值。方法 应用PCR复合扩增和四色荧光自动化检测技术对574名南方汉族无关个体的9个STR位点作基因分型。结果 获得中国南方汉族人群中9个STR位点的等位基因频率，其基因型分布符合Hardy—Weinberg平衡。经统计分析，D8Sll79、D21Sll、D18S51、D13S317、D7S820、D5S818、vWA和FGA位点属于高鉴别力、高杂合度、高信息含量的STR位点，D3S1358属于中高度多态性位点。9个STR位点的累积个体识别能力(DP)、多态信息含量(PIC)、杂合度(H)和非父排除率(PE)均为0.9999。在210例亲子鉴定案例中，否定亲权的28个案例中均至少有3个位点不符；认定亲权的182例中，亲子关系指数(RCP)大于99．73％的有179例(98．35％，179／182)，另外3例(1．65％，3／182)RCP值为95．00％一99．73％。结论 研究获得了中国南方汉族人群中9个STR位点的等位基因频率。应用这9个STR位点的等位基因鉴定，能成功地开展亲子鉴定，显提高亲子关系指数。     

实时荧光聚合酶链反应检测HBV基因型方法的建立和临床研究

目的 建立实时荧光聚合酶链反应（PCR）检测乙型肝炎病毒（HBV）基因型方法并对检测的慢性乙型肝炎（CHB）患者基因型进行临床分析。方法 根据GenBank中已发表的明确分型的143株HBV全序列，设计特异的组合引物探针，建立实时荧光PCR方法，检测128例慢性乙型肝炎患者基因型；同时检测HBVDNA、HBV-M。结果 （1）128例标本中B型检出率为20．3％（26／128），C型占71．9％（92／128），D型占7．8％（10／128）；18株HBV克隆标本S基因测序结果与本分型法完全一致。（2）男性与女性的HBV基因型构成比无明显差异（P=0．561）。B型与C型比较，C基因型HBVDNA含量（P〈0．05）和HBeAg阳性率（P〈0．01）明显高于B基因型。基因型B具有更高的HBeAb水平（P〈0．05）。结论 （1）实时荧光聚合酶链反应HBV基因分型法能够简便、灵敏、快速、准确地鉴定HBV基因型。（2）HBV基因型主要以C型为主，其次为B型、D型。在CHB患者中，性别不是基因型构成差别的因素，C基因型易引起较重的肝脏病变，B型易发生免疫逃逸，致病情较轻。     

中国汉族载脂蛋白E基因多态性与高血压的关系

目的 以中国汉族为对象研究载脂蛋白E(apoE)基因多态性与高血压间的关系。方法 选择临床诊断原发性高血压120例，及同期无心血管系统病史体检者120例为对照组。采用聚合酶链反应及限制性酶切技术来分析鉴别apoE基因第四外显子中含多态位点的DNA片断。结果 高血压组E3／4基因型频率为17．5％，对照组E3／4基因型频率为7．5％，高血压组E3／4基因型频率高于对照组E3／4基因型频率(r=5．67，P&;lt;0．05)；高血压组E4等位基因频率为16．2％，对照组E4等位基因频率为为10．6％，高血压组E4等位基因频率高于对照组E4等位基因频率(x^2=5．46，P&;lt;0．05)，高血压组E4等位基因频率明显高于对照组。结论 apoE的E3／4基因型及E4等位基因与高血压有关系.     

聚合酶链反应限制性片段长度多态性检测载脂蛋白E基因型

目的建立一种简便、准确、实用的人载脂蛋白Ｅ（ａｐｏＥ）基因型的检测方法。方法应用聚合酶链反应（ＰＣＲ）特异性扩增ａｐｏＥ基因含编码１１２位和１５８位氨基酸的基因序列，扩增产物用限制性内切酶ＨｈａⅠ酶切，聚丙烯酰胺凝胶电泳后，观察酶切位点的限制性片段长度多态性（ＲＦＩＰ）图谱。结果运用ＰＣＲ－ＲＦＬＰ法检测了１１３名健康人ａｐｏＥ基因型，频率分别为ε３／３６９．０％，ε３／２１６．８％，ε４／３１１．５％，ε４／２１．８％，ε４／４０．９％；ε２、ε３和ε４等位基因频率分别是９．３％、８３．２％和７．５％。结论该方法简单、快速、准确，对人体无害，适合于一般实验室开展及大规模人群调查     

组织因子启动子-1208I／D基因多态性与静脉血栓栓塞的相关性研究

本研究旨在探讨组织因子启动子-1208I／D基因多态性与静脉血栓栓塞（venous thromboembolism，VTE）的相关性。采用聚合酶链反应及DNA测序，对96例深静脉血栓（deep venous thrombosis，DVT）患者、14倒肺栓塞（pulmonary embolism，PE）患者和59例健康人进行组织因子（tissue factor，TV）基因启动子序列．1208位点基因多态性分析。结果表明：该位点的基因变异为18bp碱基的插入，存在D／D、led、L／I三种基因型，基因型分布在对照组分别为D／D型67．8％，I／D型25．4％，I／I型6．8％，DVT组分别为D／D62．5％，I／D29．8％，I／I8．3％，PE组分别为D／D57．1％，I／D35．7％，I／I7．1％；D等位基因频率和I等位基因频率在对照组分别为80．5％、19．5％，DVT组分别为77．1％、22．9％，PE组分别为75．0％、25．0％。基因型分布和等位基因频率在各组间的差异无统计学意义。结论：TF启动子-1208I／D基因多态性与VTE的发病没有显著相关性，该基因可能不是中国汉族人VTE的易感基因。TF基因多态性有待深入研究。     

中国北方汉族人体肘MTHFR和CBS基因多态性与脑梗死及脑出血遗传相关性的研究

背景：关于MTHFR和CBS基因是否为脑血管病易感基因存在争议。目的：研究人体MTHFR和CBS基因多态性与脑梗死及脑出血的遗传相关性。设计：病例对照研究。地点和对象：中国北方汉族人群中选取54例脑梗死患者(脑梗死组)、27例脑出血患者(脑出血组)及96例健康人(对照组)。干预：采用限制性内切酶片段长度多态性方法(PCR-RFLP)。对人的MTHFR基因C677T多态性位点、CBS基因T27796C进行检测。主要观察指标：MTHFR,CBS基因PCR与限制性酶切结果。3组MTHFR,CBS的基因型及等位基因频率分布。结果：MTHFR基因的C677T位点与脑梗死及脑出血均有显著相关，脑梗死组(47．2％)、脑出血组(44．4％)与对照组(60．9％)之间T／C等位基因频率存在差异(r=5．28，4．69，P&;lt;0．05)。TT等位基因型较CC型患脑梗死、脑出血的风险高(OR=2．53；OR=3．0)。CBS基因T27796C多态性位点与脑梗死及脑出血无明显相关(P&;gt;0．05)。结论：MTHFR基因C677T突变位点与脑梗死及脑出血有相关性，MTHFR基因可能是脑卒中的一个易感基因。CB5基因T27796C多态性位点与脑梗死、脑出血无明显相关。     

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.     

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.     

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.     

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.