汉族人单相躁狂症与5—羟色胺2A受体基因T102C多态性的相关性

目的 探讨中国汉族人群单相躁狂症患与5-羟色胺（5-HT）2A受体基因T102多态性之间的关系。方法 采用AmP-RFLP方法，检测单相躁狂症症患（n=114)和对照组（n=109)的5-HT2A受体基因频率分布。结果 单相躁狂症患5-HT2A受体基因型频率，等位基因频率与对照组无明显差异（x^2=0.02-0.74,P=0.3894-0.8832)。但按性别及有无家族史进行分层比较，男性躁狂患A1A1基因型频率明显低于男性对照（x^2=0.89-4.38,P=0.0363-0.3458)，女性躁狂患A2A2基因型频率明显低于女性对照（x^2=0.01-7.06,P=0.0091-0.9054），女性患组等位基因A1频率高于对照组，等位基因A2频率低于对照组。有无家族史患组与对照组比较，基因型频率和等位基因频率均无明显差异（x^2=0.10-1.09,P=0.2967-0.7535)。结论 5-HT2A受体基因多态性与单相躁狂症患无明显相关，5HT2A受体基因可能不是单相躁狂症发病的风险基因之一，但A1等位基因可能是女性躁狂患的风险基因。     

双相情感障碍与5-羟色胺多巴胺受体基因的相关研究

目的探讨中国汉族人群双相情感障碍患者与5-羟色胺多巴胺(5-HT2A)受体基因T102C多态性之间的关系。方法采用AmP-RFLP方法,检测双相情感障碍患者和对照组的5-HT2A受体基因频率分布。结果双相情感障碍患者5-HT2A受体基因型频率,等位基因频率与对照组无明显差异。结论本实验结果提示5-HT2A受体基因多态性与双相情感障碍患者未见明显相关,提示5HT2A受体基因可能不是双相情感障碍发病的风险基因之一。     

5-羟色胺2A受体基因多态性与品行障碍的相关性

目的:探讨5-羟色胺2A(5-HT2A)受体基因A1438G、T102C多态性与品行障碍(CD)的相关性.方法:对88例病例组和60例对照组提取基因组DNA,采用RFLP技术分析相应的基因型,并比较两组不同基因型的行为特点有无差异.结果:5-HT2AA1438G基因型和等位基因频率在病例组和对照组之间差异无显著性(P＞0.05),5-HT2AT102C多态性分析虽未发现其与品行障碍存在显著关联,但伴ADHD组的T1/T1基因型频率明显低于对照组,T1/T2基因型频率明显高于对照组,差异有显著性(P＜0.05).结论:5-HT2A受体基因的A1438G、T102C多态性与品行障碍的关系尚需进一步探讨.     

中国汉族健康人群多巴胺D1受体-48A/G基因多态性与精神分裂症的相关性

目的:探讨中国汉族健康人群多巴胺D1受体-48A/G基因多态性与高加索、德国及日本健康人群和精神分裂症患者的差异。方法:收集2004-03/07在武汉大学人民医院精神卫生中心和武汉市第二精神病医院住院治疗的精神分裂症患者117例(精神分裂症组)及同期体检的中国健康汉族人188例(对照组),均来自湖北省,无血缘关系。分析-48A/G基因型在不同种族间(中国汉族与高加索、德国及日本人群)、精神分裂症患者和正常人群、不同家族史精神分裂症患者和正常人群的分布差异,采用聚合酶链反应-限制性片段长度多态性法。结果:有117例精神分裂症患者和188例正常人的样本纳入结果分析。①不同种族间多巴胺D1受体-48A/G基因型分布的比较:中国汉族健康人群-48A/G等位基因的分布高于高加索和德国人群,低于日本人群(χ2=65.728,18.281,9.929;P均<0.01);在基因型的分布上,与日本人群差异也存在显著性(χ2=8.191,P<0.01)。②精神分裂症组和对照组多巴胺D1受体-48A/G基因多态性分布的比较:两组基因型分布及等位基因均差异无显著性(χ2=1.179,0.072,P均>0.05)。③不同家族史精神分裂症组和对照组多巴胺D1受体-48A/G基因多态性分布的比较:有精神分裂症家族史患者AA基因型频率高于对照组(91.7%和71.3%,χ2=6.621,P<0.01),A等位基因频率明显高于对照组(69/72和320/376,χ2=6.081,P<0.05)。结论:中国汉族健康人群与文献报道的高加索、德国及日本人群多巴胺D1受体-48A/G等位基因分布存在显著性差异,在基因型的分布上,与日本人群也存在显著性差异;精神分裂症患者和正常人群的基因型频率和等位基因频率的分布相似;有精神分裂症家族史患者AA基因型频率及A等位基因频率明显高于正常人群,提示中国汉族人群中多巴胺D1受体-48A/G基因多态性可能与精神分裂症发病有关,A等位基因可能是精神分裂症发病的风险因子之一。     

儿茶酚氧位甲基转移酶基因108密码子多态性与情感障碍的关系

目的:探测中国汉族人儿茶酚O-甲基转移酶(catechol-O-methyltransferase,COMT)基因第108位密码子由缬氨酸到甲硫氨酸突变的多态性与情感障碍的关系。方法:应用聚合酶链反应和限制性片段长度多态性技术,检测300例情感障碍患者(患者组)和367名正常人(对照组)的COMT基因多态性。结果:患者组COMT等位基因A频率(21.5%)低于对照组(30.9%),等位基因G频率(78.5%)高于对照组(69.1%),差异均具非常显著性(χ2=14.9937,P=0.000)。等位基因A和G频率在两组男性之间及两组女性之间的差异均具显著性(χ2=7.425,P=0.006)。两组COMT基因A/A基因型频率及其两组男、女性间的差异均不具显著性(χ2=0.1309,P=0.717,χ2=0.0235,P=0.878,χ2=0.0151,P=1.000)。患者组及其男性和女性的A/G基因型频率(35.2%,36.0%,34.0%)均低于对照组(53.7%,55.8%,51.9%,χ2=23.2432,P=0.000,χ2=12.3343,P=0.001,χ2=11.277,P=0.001)。患者组及其男性和女性的G/G基因型频率(61.0%,60.7%,61.3%)均高于对照组(42.2%,41.2%,43.1%,χ2=23.2557,P=0.000,χ2=11.8961,P=0.001和χ2=11.4889,P=0.001)。结论:研究的样本中COMTVal108→Met108多态性与情感障碍关联,该结果提示中国汉族人22号染色体可能存在情感障碍易患性基因。     

首发精神分裂症与reelin和GluR6基因多态性的关系

目的探讨中国北方汉族人群离子型谷氨酸受体-6(GluR6)和颤蛋白(reelin)基因多态性与首发精神分裂症是否关联。方法随机选取234例首发精神分裂症患者,以237例健康人作对照。用full Cold-PCR联合限制性片段长度多态性(RFLP)技术,检测GluR6基因外显子15rs2227283(G/A碱基改变)和reelin基因外显子6rs84446(A/G碱基改变)的单核苷酸多态性(SNP)。结果 reelin基因rs84446多态性,在女性病例组和对照组间基因型分布频率存在显著性差异(χ2=6.236,υ=2,P=0.044),而等位基因分布频率无显著性差异(χ2=0.054,υ=1,P=0.932);在男性病例组和对照组间基因型和等位基因分布频率均无显著性差异;GluR6基因rs2227283多态性(χ2=6.009,υ=1,P=0.015)与精神分裂症显著相关联。结论在中国北方汉族人群中,reelin基因rs84446多态性可能是女性首发精神分裂症一个危险因素。GluR6基因rs2227283多态性可能与首发精神分裂症有关联。     

5-羟色胺2A受体基因多态性与精神疾病患者自杀未遂的关联性研究

目的　探讨 5 -羟色胺 2A(5- HT2A)受体基因A 14 3 8G、T10 2C多态性与精神疾病患者的自杀未遂之间的关系。方法　对 5 2例有自杀未遂的精神疾病患者和 64例无自杀的精神疾病患者及 63例正常人 ,按常规方法提取DNA ,用限制性片段长度多态性方法分析 5 - HT2A受体基因的多态性。结果　 5 -HT2A受体基因A 14 3 8G和T10 2C两位点多态性呈完全连锁不平衡 ;自杀未遂组的A 14 3 8G、T10 2C多态性位点的T/G等位基因频率高于正常对照组 (P <0 . 0 5 ) ,自杀未遂组与正常对照组间的基因型分布的差异也有显著性 (P <0 . 0 5 )。结论　精神疾病患者的自杀未遂与 5 - HT2A受体基因的A -14 3 8G、T10 2C多态性有关 ,T/G等位基因可能是自杀行为的危险因素。     

EDNRA基因rs5335多态性与aSAH后迟发性脑血管痉挛的关联性研究

目的探讨动脉瘤性蛛网膜下腔出血(aSAH)后迟发性脑血管痉挛(DCVS)与内皮素受体A(EDNRA)基因rs5335多态性的关系。方法选择2015年1月~2017年1月在宝鸡市中心医院神经外科治疗的133例aSAH患者纳入研究,按照是否并发DCVS分为DCVS组78例和对照组55例,采用聚合酶链反应-限制性片段长度多态性法检测EDNRA基因rs5335位点多态性。结果 DCVS组和对照组基因型分布均符合Hardy-Weinberg遗传平衡(χ~2=0.295,P=0.863;χ~2=0.652,P=0.722)。在等位基因模型和显性基因模型下,DCVS组和对照组比较,rs5335位点等位基因、基因型分布频率差异均具有统计学意义(χ~2=4.213,P=0.040;χ~2=4.790,P=0.029),隐性基因模型下两组基因型差异无统计学意义(χ~2=1.299,P=0.254)。多因素Logistic回归法分析结果显示对于aSAH患者,携带等位基因C可降低DCVS发生风险(OR=0.572,95%CI 0.401~0.872,P=0.021)。结论 EDNRA基因rs5335位点多态性与aSAH患者发生DCVS相关。     

我国广东地区汉族人群类风湿性关节炎患者IL-6启动子基因多态性的研究

目的了解我国广东地区汉族人群白细胞介素-6(IL-6)基因启动子-572C/G和-174G/C位点单核苷酸多态性对类风湿性关节炎(RA)的影响。方法应用序列特异性引物-聚合酶链反应(PCR-SSP)检测168名体检健康者和120例RA患者的IL-6基因启动子-572和-174位点的基因型。结果我国广东地区汉族人群IL-6基因启动子-572位点存在C→G的突变,其基因型和等位基因频率分布在RA组和对照组比较差异有统计学意义(基因型频率:2χ=16.14,P=0.003;等位基因频率:2χ=16.71,P<0.001),其G等位基因在RA患者中明显低于健康对照组[比值比(OR)=0.36,95%可信区间(CI):0.21~0.61];-174位点存在G→C的突变,其基因型和等位基因分布频率在两组间差异亦有统计学意义(基因型频率:2χ=25.75,P<0.01;等位基因频率:2χ=25.99,P<0.01),其C等位基因在RA组明显高于健康对照组(OR=2.26,95%CI:1.91~2.68)。结论我国广东地区汉族人群IL-6基因启动子存在-572C/G与-174G/C的单核苷酸多态性,且这2个位点多态性与RA有关,其中IL-6-572位点的G等位基因可能对RA有保护作用,而IL-6-174位点等位基因C可能与RA发病的易感性有关。     

我国广东地区汉族人群类风湿性关节炎患者 IL-6启动子基因多态性的研究

目的了解我国广东地区汉族人群白细胞介素-6（IL-6）基因启动子-572C/G和-174G/C位点单核苷酸多态性对类风湿性关节炎（RA）的影响。方法应用序列特异性引物-聚合酶链反应（PCR-SSP）检测168名体检健康者和120例RA患者的IL-6基因启动子-572和-174位点的基因型。结果我国广东地区汉族人群IL-6基因启动子-572位点存在C→G的突变,其基因型和等位基因频率分布在RA组和对照组比较差异有统计学意义（基因型频率：2χ=16.14,P=0.003;等位基因频率：2χ=16.71,P〈0.001）,其G等位基因在RA患者中明显低于健康对照组[比值比（OR）=0.36,95%可信区间（CI）：0.21-0.61];-174位点存在G→C的突变,其基因型和等位基因分布频率在两组间差异亦有统计学意义（基因型频率：2χ=25.75,P〈0.01;等位基因频率：2χ=25.99,P〈0.01）,其C等位基因在RA组明显高于健康对照组（OR=2.26,95%CI：1.91-2.68）。结论我国广东地区汉族人群IL-6基因启动子存在-572C/G与-174G/C的单核苷酸多态性,且这2个位点多态性与RA有关,其中IL-6-572位点的G等位基因可能对RA有保护作用,而IL-6-174位点等位基因C可能与RA发病的易感性有关。     

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.     

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.     

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.     

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.