新疆维吾尔族和汉族健康人群Egr3基因多态性分布特征及与血脂水平关系

目的探讨Egr3(early growth response-3)基因单核苷酸多态性(tagging single nucleotide polymorphism,tagSNP)rs1008949、rs1996147在新疆维吾尔族和汉族健康人群的分布特征及其与血脂水平的相关性。方法新疆地区维吾尔族健康人群303例(维族组)和汉族健康人群351例(汉族组),2组采用TaqMan法进行基因分型检测,比较2组Egr3基因rs1008949、rs1996147基因型和等位基因分布频率及不同基因型间的血脂水平。结果维族组Egr3基因rs1008949基因型分布频率(CC型为34.3%、CT型为50.2%、TT型为15.5%)和等位基因分布频率(C为59.4%、T为40.6%)与汉族组(CC型为28.2%、CT型为49.3%、TT型为22.5%,C为52.8%、T为47.2%)比较差异有统计学意义(P0.01),rs1996147基因型分布频率(AA型为24.7%、AG型51.5%、GG型为23.8%)和等位基因分布频率(A为50.5%、G为49.5%)与汉族组(AA型为14.0%、AG型为44.4%、GG型为41.6%,A为36.2%、G为63.8%)比较差异均有统计学意义(P0.01);rs1996147位点维族组AA型携带者三酰甘油水平[(2.03±1.16)mmol/L]高于GG型[(1.65±0.88)mmol/L](P0.05),汉族组GG型携带者总胆固醇[(4.53±1.05)mmol/L]水平高于AA型[(4.19±1.05)mmol/L](P0.05)。结论 Egr3基因标签SNP在新疆维、汉健康人群中分布有差异;rs1996147多态性与新疆维吾尔族人群三酰甘油水平有关,与汉族总胆固醇水平有关。     

M型磷脂酶A_2受体和人类白细胞抗原基因单核苷酸多态性与维吾尔族特发性膜性肾病的相关性

目的探讨M型磷脂酶A_2受体(M-type phospholipase A_2receptor,PLA_2R)rs35771982和人类白细胞抗原(human leukocyte antigen DQα-chain 1,HLA-DQA1)rs2187668位点单核苷酸多态性与维吾尔族特发性膜性肾病(idiopathic membranous nephropathy,IMN)的相关性。方法 45例维吾尔族IMN患者为IMN组,45例同期维吾尔族体检健康者为对照组,采用直接测序法检测2组PLA_2R基因rs35771982、HLA-DQA1基因rs2187668位点单核苷酸多态性(single nucleotide polymorphism,SNP),比较2组基因型和等位基因频率;采用单因素logistic回归分析风险基因型。结果 IMN组PLA_2R基因rs35771982位点C等位基因频率(78.90%)明显高于对照组(40.00%)(P0.01);在显性模型下PLA_2R基因rs35771982位点携带CC基因型的患病风险为携带CG+GG基因型的7倍(OR=7.00,95%CI:2.74~17.87,P=0.000),隐性模型下携带GG基因型的患病风险为携带CC+CG基因型的0.13倍(OR=0.13,95%CI:0.04~0.44,P=0.000);IMN组PLA_2R基因rs35771982位点CC基因型血清肌酐[103.15(74.28,175.67)μmol/L]和24h尿蛋白[2.77(2.00,3.95)g]明显高于CG+GG基因型[73.70(58.87,106.65)μmol/L、1.90(1.39,2.75)g](P0.05),收缩压[(138.03±23.11)mmHg]高于CG+GG基因型[(123.13±15.05)mmHg],血清白蛋白[26.80(17.84,28.86)g/L]明显低于CG+GG基因型[29.96(25.67,36.64)g/L](P0.05);2组HLA-DQA1SNP rs2187668位点仅检测到GG基因型,未检测到GA、AA基因型。结论 PLA_2R基因rs35771982位点CC基因型和C等位基因是新疆维吾尔族IMN的易感基因,也是功能基因,其中CC基因型与尿蛋白定量呈正相关,与血清白蛋白水平呈负相关。     

冠心病患者血管内皮生长因子+450C/G基因多态性研究

目的探讨血管内皮生长因子(vascular endothelial growth factor,VEGF)基因多态性与冠心病的关系。方法应用PCR-限制性片段长度多态性方法检测249例冠心病患者(冠心病组)和99例体检健康者(对照组)VEGF基因+450C/G基因位点及基因分型,比较冠心病不同基因型患者血清VEGF水平。结果 VEGF基因+450C/G有3个基因型(CC、CG、GG型),冠心病组CC基因型频率(25.3%)和C等位基因频率(50.8%)明显高于对照组(11.1%、35.9%)(P0.05),GG基因型频率(23.7%)和G等位基因频率(49.2%)低于对照组(39.4%、64.7%)(P0.05),CG基因型频率(51.0%)与对照组(49.5%)比较差异无统计学意义(P0.05);冠心病组CC基因型患者血清VEGF水平[(702.78±122.46)ng/L]明显高于CG基因型[(601.36±131.32)ng/L)]和GG基因型[(487.25±147.29)ng/L],CG基因型高于GG基因型(P0.05)。结论 VEGF+450C/G基因多态性可能与冠心病的发生、发展有关,C等位基因可能是冠心病血管病变的易感基因。     

miR-146a rs2910164 C>G基因多态性与先天性心脏病易感性的研究

目的研究中国汉族人群中miR-146a rs2910164 C>G基因多态性与先天性心脏病发生危险因素关系。方法采用以医院为基础的病例-对照研究,运用质谱SNP分型技术对120例法洛四联症(TOF)患儿,124例大动脉转位(TGA)患儿和136例对照人群进行了miR-146a rs2910164 C>G基因多态性分析,计算各种基因型的先心发生风险及其95%可信区间。结果 miR-146a rs2910164 C>G基因多态三种基因型CC,CG,GG在TOF组、TGA组以及对照组的频率分别为33.9%(CC),49.2%(CG),16.9%(GG);36.1%(CC),51.6%(CG),12.3%(GG)以及35.8%(CC),51.5%(CG),12.7%(GG);通过Logistic回归分析,发现携带miR-146a rs2910164 CG或GG等位基因型与TOF和TGA的发病风险无明显相关。结论 miR-146a rs2910164 C>G基因多态性可能不是先天性心脏病发生的危险因素,相关结果需要进一步研究证实。     

T细胞受体α链稳定区基因-575A/G与原发抗中性粒细胞抗体相关性小血管炎的关联分析

目的 探讨T细胞受体α链稳定区(TCRCα)基因-575 A/G多态性与汉族人群原发抗中性粒细胞抗体(ANCA)相关性小血管炎的关联关系.方法 86例原发ANCA相关性小血管炎汉族患者与196例汉族健康人作对照,PCR-RFLP鉴定其TCRCα-575A/G基因型,进行病例-对照研究与临床分析.结果 86例患者中,TCRCα基因-575 A/G存在从、AG、GG 3种基因型和A、G 2种等位基因,与正常对照组相比,分布频率差异均无统计学意义(P均>0.05);TCRCα基因-575A/G基因型不同的患者组(AA组、AG组、GG组)相比,在收缩压[(127.47±24.18)、(124.11±25.21)、(148.92±19.23)mm Hg]、舒张压[(75.35±14.12)、(74.50±13.01)、(85.46±9.40)mm Hg]、红细胞数[(3.41±1.01)×109/L、(3.46±1.04)×109/L、(2.68±0.67)×109/L]、血红蛋白水平[(90.45±20.69)、(100.66±29.80)、(77.61±15.81)g/L]方面,差异均有统计学意义(P均<0.05),GG基因型患者组有较高的血压和较重的贫血程度(P均<0.05);平均(16.0±36.8)个月的随防,慢性肾功能衰竭组与与肾功能正常组相比较,3种基因型和两类等位基因的分布频率差异均无统计学意义(P均>0.05).结论 汉族人群中,TCRCα基因-575 A/G多态性可能和AN-CA相关性小血管炎的遗传易感性不相关;与慢性肾功能衰竭的发生不相关;可能与临床上血压水平和贫血程度相关,G等位基因的患者,可能发生较高的血压、贫血程度.     

蒙古族和汉族健康人群环氧合酶-2基因单核苷酸多态性分布特征及与吸烟者肺功能的关系

目的探讨环氧合酶-2(cyclooxygenase-2,COX-2)基因rs689466和rs20417位点单核苷酸多态性(single nucleotide polymorphism,SNP)在蒙古族和汉族健康人群中的分布特征及其与吸烟者肺功能的关系。方法蒙古族健康人群350例为蒙族组,汉族健康人群335例为汉族组。采用SNPscan分型技术检测2组COX-2基因rs689466和rs20417位点基因型及等位基因频率分布;检测2组吸烟者用力肺活量(forced vital capacity,FVC)占预计值百分比(FVC%pred)、第1s用力呼气容积(forced expiratory volume in one second,FEV1)占预计值百分比(FEV1%pred),计算FEV1/FVC。结果汉族组FVC%pred[(94.29±11.64)%]、FEV1%pred[(94.82±10.81)%]、FEV1/FVC[(82.54±4.71)%]与蒙族组[(93.62±11.06)%、(94.23±10.76)%、(82.90±4.46)%]比较差异均无统计学意义(P0.05);汉族组COX-2基因rs689466位点A等位基因频率(53.9%)低于蒙族组(60.4%),基因型分布频率(AA基因型26.6%,AG基因型54.6%,GG基因型18.8%)与蒙族组(AA基因型35.4%,AG基因型49.7%,GG基因型14.9%)比较差异有统计学意义(P0.05);汉族组COX-2基因rs20417位点基因型分布及等位基因频率与蒙族组比较差异无统计学意义(P0.05);汉族组吸烟者中,rs689466位点AA基因型者FVC%pred[(98.86±13.32)%]高于AG+GG基因型者[(93.07±10.45)%](P0.05),FEV1/FVC[(80.84±4.67)%]低于AG+GG基因型者[(83.01±5.21)%](P0.05),FEV1%pred与AG+GG基因型者比较差异无统计学意义(P0.05);汉族吸烟者中,rs20417位点GC+CC基因型者FVC%pred[(89.61±9.27)%]、FEV1%pred[(91.61±9.03)%]均低于GG基因型者[(96.07±11.97)%、(96.80±10.93)%](P0.05),FEV1/FVC与GG基因型者比较差异无统计学意义(P0.05);蒙族组吸烟者中,rs689466、rs20417位点不同基因型FVC%pred、FEV1%pred,FEV1/FVC比较差异均无统计学意义(P0.05)。结论COX-2基因rs689466位点SNP分布在蒙、汉族健康人群间存在不同,且rs689466、rs20417位点SNP可能与汉族健康吸烟者肺功能相关。     

PNPLA3 rs738409基因多态性与成人非酒精性脂肪性肝病肝纤维化的相关性分析

目的探讨PNPLA3 rs738409基因多态性与成人非酒精性脂肪性肝病(NAFLD)患者肝纤维化程度的相关性。方法回顾性收集2016年1月至2018年6月于首都医科大学附属北京友谊医院经肝活检诊断为非酒精性脂肪性肝病的成人患者42例,应用Taqman探针分型法测定患者PNPLA3 rs738409的单核苷酸多态性。同时收集患者的一般资料、血液学检查、生化检查、影像学及病理资料。分析PNPLA3 rs738409基因型与NAFLD进展期纤维化的关系。结果PNPLA3 rs738409三种基因型占比CC、CG、GG分别为10例(23.8%)、19例(45.2%)和13例(31.0%)。三种不同等位基因型NAFLD患者的年龄、性别构成比、体重指数、合并症、丙氨酸氨基转移酶、谷氨酸转肽酶、空腹血糖、总胆固醇、甘油三酯等比较,差异均无统计学意义(P0.05)。GG型患者的血小板计数[(161.4±67.7)×10~9/L vs.(209.0±52.1)×10~9/L,P=0.046]、凝血酶原活动度[(84.9±11.6)%vs.(97.9±18.8)%,P=0.012]均显著低于CC型患者,而肝脏硬度测定值显著高于CC型(17.5±7.8 kPa vs.10.9±6.5 kPa,P=0.043)。组织学方面,GG型患者脂肪变性程度和肝纤维化程度均高于GC型和CC型(P=0.028、0.015)。二元Logistic回归分析显示,在控制性别、年龄、糖尿病后,PNPLA3 rs738409 GG型是进展期纤维化的危险因素(OR=12.83,95%CI:1.69～97.19,P=0.013)。结论PNPLA3 rs738409基因多态性与NAFLD患者肝纤维化程度相关,GG型是进展期纤维化的危险因素。     

人类ErbB2转录因子1基因多态性与陕西汉族人群胃癌的关系研究

目的探讨人类ErbB2转录因子1(TOB1)基因多态性与陕西汉族人群胃癌之间的关系。方法选取320例胃癌患者为胃癌组,350例经胃镜检查及病理活检排除胃癌的门诊患者为对照组,对TOB1基因4个候选单核苷酸多态性(SNP)位点(rs61482741、rs34700818、rs12601477、rs4626)进行基因分型。分析TOB1基因候选SNP位点等位基因、基因型、显性模式和隐性模式频率与胃癌风险的关系;分析TOB1基因候选SNP位点连锁不平衡情况。结果胃癌组与对照组TOB1基因4个候选SNP位点基因分型结果均符合哈迪-温伯格平衡(P0.05)。TOB1基因易感位点包括内含子区域rs61482741位点G等位基因(P=0.011,OR=1.42,95%CI=1.15～1.78)、GG基因型(P=0.016,OR=1.91,95%CI=1.18～3.23)、显性模式GG+CG基因型(P=0.032,OR=1.44,95%CI=1.05～1.93)、隐性模式GG基因型(P=0.043,OR=1.68,95%CI=1.03～2.74);外显子区域rs4626位点G等位基因(P=0.006,OR=1.41,95%CI=1.16～1.76)、GG基因型(P=0.006,OR=1.85,95%CI=1.20～2.85)、显性模式GG+AG基因型(P=0.023,OR=1.53,95%CI=1.10～2.16)、隐性模式GG基因型(P=0.028,OR=1.56,95%CI=1.09～2.21);内含子区域rs34700818和rs12601477位点等位基因、基因型、显性模式和隐性模式频率在胃癌组与对照组间比较,差异均无统计学意义(P0.05)。结论TOB1基因内含子区域rs61482741和外显子区域rs4626位点可能是陕西汉族人群胃癌高风险易感基因位点。     

LTA基因单核苷酸多态位点与胃癌易感性的研究

目的通过对江西地区汉族胃癌患者和正常人群中淋巴毒素-α（LTA）基因单核苷酸多态（single nucleotide polymorphism,SNP）位点rs909253基因型的检测,探讨rs909253位点与胃癌患者易感性的关系。方法利用Sequenom-MassArray-IPLEX检测194例胃癌和250例对照LTA基因多态位点rs909253的基因分型,并利用非条件logistic回归对检测结果进行相关统计。结果 LTA rs909253多态位点GG、GA、AA三种基因型在胃癌的频率分别为26.4%、52.0%和21.6%,与对照组（35.6%、46.4%和18.0%）相比,统计学上无显著意义（χ2=4.403,P=0.111）;但胃癌组和正常组的等位基因频率分布差异临近显著,P值达0.059;对年龄和性别进行校正后,携带等位基因G的胃癌发病风险有所增加（OR=1.315,95%CI：1.001~1.728）。结论江西汉族人群胃癌的遗传易感性可能与LTA基因rs909253位点的单核苷酸多态性有关,G等位基因为其发病的危险因素。     

DDB2单核苷酸多态位点rs830083CG变异与非吸烟人群肺癌易感性的关系

目的 分析DNA损伤结合蛋白2(DDB2)单核苷酸多态位点rs830083CG变异与非吸烟人群肺癌易感性的关系。方法 选择2020年3月至2021年3月收治的158例非吸烟肺癌患者为研究组，选择同期100例体检健康人群为对照组，检测DDB2基因单核苷酸多态性(SNP)位点rs830083多态性，采用非条件logistic回归模型分析DDB2基因多态性与非吸烟人群肺癌易感性的关系，并评估环境暴露因素与DDB2基因rs830083位点多态性的交互作用。结果 研究组和对照组DDB2基因rs830083位点CC、CG、GG基因型频率分别为36.08%、52.53%、11.39%和53.00%、39.00%、8.00%;C、G等位基因频率分别为62.34%、37.66%和75.50%、27.50%，差异均有统计学意义(P <0.05)。两组DDB2基因rs830083位点基因型分布，在显性模式下，差异有统计学意义(P <0.05)，在隐性模式下差异则无统计学意义(P> 0.05)。与CC基因型比较，CG+GG基因型与非吸烟人群肺癌易感性有关。相比于rs830083位点CC基因型...     

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.     

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.     

Prospects for the control of neglected tropical diseases by mass drug administration

The prospects for the control of neglected tropical diseases, including soil-transmitted helminthiasis, shistosomiasis, lymphatic filariasis, onchocerciasis and trachoma, through mass drug administration, are exemplified by the elimination of the trachoma as a public-health problem in Morocco. In spite of this and other striking successes, mass drug administration programs are faced with major challenges resulting from suboptimal coverage and lack of efficacy. At current suboptimal coverage rates, programs may need prolongation for an extended period, increasing costs and undermining sustainability. Community participation through health education and information appears to be crucial to improve coverage and to achieve sustainability. Implementation of complementary measures, such as vector control, improved hygiene and environmental sanitation, are important to further control transmission and to prevent re-emergence of the infection and, again, may only be achieved effectively through community-based initiatives. To reduce costs and to relieve pressure on the health system, combining neglected tropical disease programs in areas where diseases coexist and integration with existing control programs for malaria, tuberculosis and HIV/AIDS is advocated. The risk of developing drug resistance is of particular concern in view of the lack of alternative drugs, and reduced treatment efficacy due to emerging resistance is evident for the soil-transmitted helminths and onchocerciasis. Given the risk for the development of drug resistance and the need for a high degree of participation, close attention should be paid to the monitoring of the coverage and efficacy of the different program components.     

Bacterial meningitis: an update of new treatment options

The outcome of bacterial meningitis critically depends on the rapid initiation of bactericidal antibiotic therapy and adequate management of septic shock. In community-acquired meningitis, the choice of an optimum initial empirical antibiotic regimen depends on the regional resistance patterns. Pathogens resistant to antibacterials prevail in nosocomial bacterial meningitis. Dexamethasone is recommended as adjunctive therapy for community-acquired meningitis in developed countries. In comatose patients, aggressive measures to lower intracranial pressure <20 mmHg (in particular, external ventriculostomy, osmotherapy and temporary hyperventilation) were effective in a case–control study. Although many experimental approaches were protective in animal models, none of them has been proven effective in patients. Antibiotics, which are bactericidal but do not lyse bacteria, and inhibitors of matrix metalloproteinases or complement factor C5 appear the most promising therapeutic options. At present, vaccination is the most efficient method to reduce disease burden. Palmitoylethanolamide appears promising to enhance the resistance of the brain to infections.     

Imaging choices in occult hip fracture

Background: Hip fracture is a common injury, with an incidence rate of > 250,000 per year in the United States. Diagnosis is particularly important due to the high dependence on the integrity of the hip in the daily life of most people. Objectives: In this article we review the literature focused on hip fracture detection and discuss advantages and limitations of each major imaging modality. Discussion: Plain radiographs are usually sufficient for diagnosis as they are at least 90% sensitive for hip fracture. However, in the 3–4% of Emergency Department (ED) patients having hip X-ray studies who harbor an occult hip fracture, the Emergency Physician must choose among several methods, each with intrinsic limitations, for further evaluation. These methods include computed tomography, scintigraphy, and magnetic resonance imaging. Conclusion: We present an evidence-based algorithm for the evaluation of a patient suspected to have an occult hip fracture in the ED. Also outlined are future directions for research to distinguish more effective techniques for identifying occult hip fractures.     

Systematic Reviews Published in the April 2012 Issue of the Cochrane Library

ABSTRACT

The Cochrane Library of Systematic Reviews is published quarterly as a DVD but monthly online. The April 2012 issue (second DVD for 2012) contains 5045 complete reviews, 2182 protocols for reviews in production, and 17,084 short summaries of systematic reviews published in the general medical literature. In addition, there are citations of 674,000 randomized controlled trials, and 15,400 cited papers in the Cochrane methodology register. The health technology assessment database contains just over 11,000 citations. One hundred and seventeen new reviews have been published in the last 3 months of which 12 have potential relevance for practitioners in pain and palliative medicine. The impact factor of the Cochrane Library stands at 6.186. Readers are encouraged to access the full report for any articles of interest as only a brief commentary is provided.     

Platelets,thrombosis, coagulation,and atherosclerosis

When I first got the invitation to join a medical delegation going to Moldova, I thought for a moment that our destination was the fictional country in the old Marx Brothers movie Duck Soup. On further checking, it turns out that entertaining place was called Freedonia. I now know that Moldova is indeed a real country, bordered on the west by Romania and on the other three sides by the Ukraine. It is a proud country, rich with traditions, and its people are warm, giving, eager to learn ways to improve their healthcare system, and deeply appreciative of our attempts to help them in the task.     

Spiritual Dimensions of Nursing Practice. edited by V. B. Carson

The Cochrane Library of Systematic Reviewsis published quarterly. Issue one for 2004 of the library was published in February 2004. This issue contains 3,329 reviews and protocols of which 1,921 are fully published reviews. The trials database now stands at over 400,000 records with an additional 4,427 one-page summaries of non-Cochrane reviews in the NHS database of reviews of effectiveness (DARE). This version of the library contains the results of an extensive search for RCTs on EMBASE. The latest library contains 84 new reviews, seven are considered relevant to practitioners in pain and palliative care. References are published in the same format as the citation for Cochrane reviews.     

Advance Care Planning

Predictors of patient wishes and influence of family and clinicians are discussed. Research findings on patient decision-making relating to preferences in end-of-life care are described. Advance directives and durable powers of attorney are defined and differentiated. Most patients have not participated in advance care planning and the need for more effective planning is documented. Appropriate times for discussions of such planning are described. Scenarios discussed include terminal cancer, chronic obstructive pulmonary disease, AIDS, stroke, and dementia. Patient satisfaction is discussed, as is a structured process for discussions about patient preferences. Results of patient responses to hypothetical scenarios are described. Invasiveness of interventions, prognosis and other factors that favor or discourage patient preferences for treatment are discussed. Findings resulting from research funded by the Agency for Healthcare Research and Quality (AHRQ) are discussed. This research can help providers offer end-of-life care based on preferences held by the majority of patients under similar circumstances.     

Évaluation,par l’imagerie ultrasonore,du recrutement musculaire,de la force motrice et de la détente verticale du quadriceps après électromyostimulation (cas de 15 étudiants de l’INJS)

The increase of strength seems to be an element of performance in some sports.