2型糖尿病与肝细胞核因子—4alpha相关基因的研究

目的：探讨中国河南汉族2型糖尿病（DM2）家系患者与HNF－4α基因exon 4、exon 7是否关联。方法：选择12个DM2家系（51份标本）；111例DM2患者；102例健康献血者作对照，进行PCR－SSCP分析。结果：51例DM2家系成员中4例HNF－4α基因exon 4出现异常条带，其中1例OGTT正常，而HNF－4α基因exon 7未见异常条带。结论：HNF－4α基因exon 4可能是中国河南汉族DM2家系－MODY1的主要致病基因片段，exon7片段与MODY1可能无关联。     

糖尿病肾病与肝细胞核因子-1β相关基因研究

目的：探讨河南省汉族人群中糖尿病肾病患者与肝细胞核因子-1β基因exon2、exon3是否关联。方法：运用聚合酶链反应—单链构像多态性技术对9个糖尿病家系中42例糖尿病肾病患者；82例2型糖尿病患者；90例健康献血者进行分析。结果：42例糖尿病肾病患者肝细胞核因子-1β基因exon2、exon3未发现异常条带。结论：肝细胞核因子-1β基因exon2、exon3可能不是河南省汉族人群中糖尿病肾病患者的主要致病基因片段。     

糖尿病家系患者与血清瘦素水平的相关分析

目的 :探讨中国河南汉族糖尿病 (DM )家系患者与瘦素 (leptin)水平的相关性。 方法 :在中国河南汉族人群中选择 12个DM家系 ,符合常染色体显性遗传规律 ,全部成员 197例 ,共收集到外周静脉血标本 5 1例 ;111例 2型DM患者 (家系中患DM者不超过 2例 ) ;10 2例健康献血者作对照。用放射免疫技术测定血清leptin、C肽 ;对糖化血红蛋白、谷氨酸脱羧酶抗体、葡萄糖耐量 (OGTT)、体重指数 (BMI)等指标进行检测。结果 :DM家系与正常人群的leptin比较无显著性差异(P >0 0 5 ) ;111例 2型DM中男性及女性患者分别与 10 2例正常人群男性及女性leptin水平比较均有显著性差异 (P <0 0 5 ) ;2型DM人群中leptin水平分别与餐后 2h血糖水平、BMI呈正相关。 结论 :leptin在中国河南汉族DM家系人群中可能不是主要致病原因 ,血清leptin增高可能是 2型DM的致病原因之一。     

糖尿病家系患者与血清瘦素水平的相关分析

目的：探讨中国河南汉族糖尿病（DM）家系患者与瘦素（leptin)水平的相关性。方法：在中国河南汉族人群中选择12个DM家系，符合常染色体显性遗传规律，全部成员197例，共收集到外周静脉血标本51例；111例2型DM患者（家系中患DM者不超过2例）；102例健康献血者作对照。用放射免疫技术测定血清leptin、C肽；对糖化血红蛋白、谷氨酸脱羧酶抗体、葡萄糖耐量（OGTT）、体重指数（BMI）等指标进行检测。结果：DM家系与正常人群的leptin比较无显著性差异（P＞0．05）；111例2例DM中男性及女性患者分别与102例正常人群男性及女性leptin水平比较均有显著性差异（P＜0．05）；2型DM人群中leptin水平分别与餐后2h血糖水平、BMI呈正相关。结论：leptin在中国河南汉族DM家系人群中可能不是主要致病原因，血清leptin增高可能是2型DM的致病原因之一。     

原发性高血压患者肿瘤坏死因子-α基因多态性与动脉粥样硬化的相关性

目的:探讨肿瘤坏死因子α(tumor necrosis factor-alpha,TNF-α)基因-308G>A,-238G>A多态性与原发性高血压动脉粥样硬化的关系.方法:对河南汉族人群212例原发性高血压患者进行颈动脉超声检测,根据检测结果将患者分为颈动脉粥样硬化组和颈动脉正常组,采用聚合酶链反应-限制性片段长度多态性方法检测TNF-α基因-308G>A,-238G>A多态性.结果:颈动脉粥样硬化组与颈动脉正常组TNF-α-308G>A及TNF-α-238G>A基因型及等住基因的分布比较差异均有统计学意义(P<0.05).结论:TNF-α-308G>A,-238G>A基因多态性与河南汉族原发性高血压动脉粥样硬化的发生有关.     

肝细胞核因子4α与糖尿病

肝细胞核因子4α(HNF-4α)属于核受体超家族成员,是在肝、肠、胰等组织器官中表达的一种细胞特异性转录因子.HNF-4α被认为在涉及肝脏、胰脏β细胞的发育、分化及功能的基因表达中有调节作用,并能维持葡萄糖稳态.它与其他HNF组成HNFs转录调节网络,参与组织分化和能量代谢.HNF-4α突变型可诱发青少年发病的成年型糖尿病(MODY1).近年来研究表明,HNF-4α基因的单核苷酸多态性(SNPs)可能与2型糖尿病易感性有关.全面系统分析HNF-4α在2型糖尿病发病中的遗传病理学机制,对预防和治疗2型糖尿病具有十分重要的意义.     

阿尔茨海默病患者神经型尼古丁受体α7亚单位基因多态性:发现一个新的GTG三碱基插入突变

目的:探讨阿尔茨海默病患者神经型尼古丁受体α7亚单位基因多态性情况。方法:选择2001-01-01/2002-12-03贵阳医学院附属医院及贵阳中医学院附属医院住院的贵州籍汉族阿尔茨海默病患者12例。年龄62～81岁,平均(70.0±21.9)岁,其中男9例,女3例,病程均超过1年。用聚合酶链式反应-温度梯度凝胶电泳分析阿尔茨海默病患者神经型尼古丁受体α7亚单位基因全部10个外显子及其两侧的部分内含子DNA片段,电泳条带异常者进行DNA序列分析,借以了解贵州汉族阿尔茨海默病患者的神经型尼古丁受体α7亚单位基因多态性情况。结果:12例阿尔茨海默病患者中,含外显子7和部分内含子7序列的DNA片段温度梯度凝胶电泳结果均出现两条带,在神经型尼古丁受体α7亚单位基因上发现1个新的突变位点,即在外显子7附近的内含子7上的117643+GTG三碱基插入突变。结论:在贵州汉族阿尔茨海默病患者的神经型尼古丁受体α7亚单位基因上发现一个新的多态性位点,与阿尔茨海默病的发生是否有关联尚需进一步的研究。     

阿尔茨海默病患者神经型尼古丁受体α7亚单位基因多态性：发现一个新的GTG三碱基插入突变

目的：探讨阿尔茨海默病患者神经型尼古丁受体α7亚单位基因多态性情况。方法：选择2001—01—01／2002—12—03贵阳医学院附属医院及贵阳中医学院附属医院住院的贵州籍汉族阿尔茨海默病患者12例。年龄62～81岁，平均（70．0&;#177;21．9）岁，其中男9例，女3例，病程均超过1年。用聚合酶链式反应一温度梯度凝胶电泳分析阿尔茨海默病患者神经型尼古丁受体α7亚单位基因全部10个外显子及其两侧的部分内含子DNA片段，电泳条带异常者进行DNA序列分析，借以了解贵州汉族阿尔茨海默病患者的神经型尼古丁受体α7亚单位基因多态性情况。结果：12例阿尔茨海默病患者中，含外显子7和部分内含子7序列的DNA片段温度梯度凝胶电泳结果均出现两条带，在神经型尼古丁受体α7亚单位基因上发现1个新的突变位点，即在外显子7附近的内含子7上的117643＋GTG三碱基插入突变。结论：在贵州汉族阿尔茨海默病患者的神经型尼古丁受体α7亚单位基因上发现一个新的多态性位点，与阿尔茨海默病的发生是否有关联尚需进一步的研究。     

重叠PCR法构建宫颈癌相关的EGFR基因G719S和T790M融合重组载体

目的构建包含与宫颈癌相关的EGFR基因G719S和T790M位点重组p MD19-exon18-exon20载体,为制备突变型EGFR基因重组载体提供模板。方法以健康人全血基因组DNA作为模板,设计2对有重叠互补区的特异性引物,对EGFR基因的exon18和exon20两片段分别进行扩增,用重叠PCR技术将exon18和exon20片段进行连接,再将连接产物exon18-exon20片段插入p MD19-T质粒,构建成野生型p MD19-exon18-exon20载体,转入至大肠埃希菌感受态细胞DH5α中进行表达,利用菌液PCR和基因组测序进行鉴定。结果琼脂糖凝胶电泳结果显示,exon18和exon20两位点扩增片段在778 bp和596 bp处有清晰的目的条带,两片段的融合产物exon18-exon20片段可在1 374 bp处见一清晰目的条带;经菌液PCR和基因组测序结果鉴定,EGFR基因融合重组质粒均与预期结果一致。结论利用重叠PCR法将exon18和exon20片段进行融合,且成功构建了EGFR基因重组表达载体。     

蛋白酪氨酸磷酸酶-1B基因多态性与2型糖尿病的相关性研究

目的：探讨大连地区2型糖尿病（T 2DM）人群及家系中蛋白酪氨酸磷酸酶-1B（PTP-1B）基因981位点多态性与糖尿病的相关性。方法：采用人群病例对照研究,病例组101例,对照组309例;采用家系研究,选取T 2DM家系的T 2DM患者、非糖尿病一级亲属、健康配偶各80例。应用聚合酶链反应（PCR）及限制性片段长度多态性（RFLP）方法,检测各组PTP-1B基因981位点基因型及其频率。结果：人群病例对照研究和家系研究中,各组PTP-1B基因均以CC基因型为主,C等位基因频率差异无显著性。结论：大连地区T 2DM的人群病例对照研究及家系研究中,未发现PTP-1B基因的981位点C→T多态性与T 2DM的发病有关。     

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.