多巴胺D2受体基因-141C Ins/Del多态性与海洛因依赖的关系

目的分析多巴胺D2受体(DRD2)基因-141C Ins/Del多态是否与海洛因成瘾易感性有关.方法采用PCR-RFLP技术检测380名海洛因依赖者(依赖组)和275名健康对照者(对照组)的DRD2-141C Ins/Del基因多态,比较依赖组和对照组DRD2-141C Ins/Del多态基因型及等位基因频率是否有差异.结果依赖组与对照组相比,DRD2-141C Ins/Del的基因型频率(Del/Del:4.3 vs 6.5;Ins/Del:24.8 vs 27.2;Ins/Ins:70.9 vs 66.2)和等位基因频率(Del:23.6 vs 20.2;Ins:76.4 vs 79.8)差异均无显著性(分别为x2=2.789,P=0.248;x2=2.103,P=0.210).结论 DRD2-141C Ins/Del基因多态与海洛因成瘾易感性可能无关.     

多巴胺D2受体基因-141C Ins/Del多态性与海洛因依赖的关系

目的分析多巴胺D2受体(DRD2)基因-141CIns/Del多态是否与海洛因成瘾易感性有关。方法采用PCR-RFLP技术检测380名海洛因依赖者(依赖组)和275名健康对照者(对照组)的DRD2-141CIns/Del基因多态,比较依赖组和对照组DRD2-141CIns/Del多态基因型及等位基因频率是否有差异。结果依赖组与对照组相比,DRD2-141CIns/Del的基因型频率(Del/Del:4.3vs6.5;Ins/Del:24.8vs27.2;Ins/Ins:70.9vs66.2)和等位基因频率(Del:23.6vs20.2;Ins:76.4vs79.8)差异均无显著性(分别为2=2.789,P=0.248;2=2.103,P=0.210)。结论DRD2-141CIns/Del基因多态与海洛因成瘾易感性可能无关。     

中国汉族人群多巴胺D2 受体-141C Ins/Del 多态性与海洛因依赖的Meta 分析

目的：系统评价多巴胺D2受体基因-141C Ins/Del多态性与中国汉族人群海洛因依赖的相关性。方法：检索 中外数据库于建库至2014年3月公开发表的文献,收集有关多巴胺D2受体基因-141C Ins/Del多态性与中国汉族人群海洛 因依赖的病例对照研究,使用Stata12.0软件进行Meta分析。结果：共纳入7项关于多巴胺D2受体基因-141C Ins/Del多态 性与海洛因依赖的病例对照研究,其中病例组3 211人,对照组1 979人。Meta分析结果显示各基因型合并后的OR值、 OR值95% CI和P值,其中基因型Ins/Ins与基因型Del/Del比较,OR=0.51,95% CI：0.27~0.96,P=0.017;基因型Ins/Ins 与基因型Ins/Del+Del/Del比较,OR=0.82,95% CI：0.72~0.94,P=0.448;基因型Ins/Ins+Ins/Del与基因型Del/Del比较, OR=0.53,95% CI：0.28~0.98,P=0.019;基因型Ins/Del与基因型Del/Del比较,OR=0.59,95% CI：0.32~1.07,P=0.045; Ins等位基因与Del等位基因比较,OR=0.79,95% CI：0.71~0.89,P=0.101。结论：多巴胺D2受体基因-141C Ins/Del多态 性与中国汉族人群海洛因依赖存在关联,携带有Ins等位基因的个体可能不易对海洛因产生依赖。     

多巴胺受体2型基因-141C Ins/Del多态性与汉族精神分裂症的关联及连锁研究

目的:探讨湖北武汉地区汉族人群中多巴胺受体D2型(D2)基因启动区-141位点胞嘧啶插入/缺失(-141C Ins/Del)多态性与精神分裂症的关联及连锁关系。方法:应用聚合酶链反应-限制性片段长度多态性方法,对120名精神分裂症患者、100名健康对照者进行基因分型,进而分析精神分裂症的-141C Ins/Del多态性;对35个精神分裂症患者核心家系(患者及其生物学父母)的-141C Ins/Del进行了连锁不平衡分析。结果:多巴胺受体D2型基因启动区-141位点多态的等位基因、基因型频率在精神分裂症组与对照组之间的分布差异有显著性(P<0.05)。在精神分裂症组中,-141C缺失的等位基因频率为0.11,对照组为0.18(比值比为0.55,95%可信区间为0.30-0.96,P<0.05)。在35个核心家系中,16个患者父母的基因型为杂合子型"-141C Ins/Del",传递不平衡(TDT)分析结果显示10个传递"-141C Ins",6个传递"-141C Del"(χ2=0.71,P>0.05),提示"-141C Ins/Del"与精神分裂症之间不存在连锁关系。结论:多巴胺受体-141C Ins/Del多态性非独立性地对汉族精神分裂症与D2基因的相关性产生修饰作用,需要进一步扩大样本量探讨-141C Del对于汉族精神分裂症患者的保护性。     

DRD2基因rs1800497多态性与精神分裂症发病和认知功能的关系

目的调查多巴胺D2受体(DRD2)基因rs1800497多态性与慢性精神分裂症发病和认知功能的关系。方法招募567例慢性精神分裂症患者和421例健康受试者,认知功能采用重复性成套神经心理状态测验量表(RBANS)评估,DRD2基因rs1800497多态性采用Taq Man SNP方法进行基因分型为:C/C、C/T、T/T。收集一般人口学和临床数据。结果慢性精神分裂症组和健康对照组DRD2基因rs1800497位点的等位基因频率的分布没有显著性差异(χ~2=0.05,df=1,P=0.83),但基因型频率的分布出现显著性差异(χ~2=7.00,df=2,P=0.03)。精神分裂症患者依据rs1800497位点基因型分组分析:组间延迟记忆分值出现显著差异(F=3.91,P=0.02)。结论DRD2基因rs1800497位点可能参与了精神分裂症的发病,并进一步可能影响精神分裂症的认知功能。     

DRD4exonⅢ基因多态性与抽动秽语综合征共病抑郁的关系

目的了解多巴胺D4受体（DRD4）基因第3外显子48bp可重复序列多态性（DRD4 exonⅢ48bpVNTR）与抽动秽语综合征（TS）共病抑郁的关系。方法选取符合美国精神疾病诊断统计手册第4版Ts诊断标准的112例儿童作为研究对象（TS组）,以71名健康儿童作为正常对照组。采用聚合酶链反应（PCR）等位基因分型技术检测DRD4exonⅢ48bpVNTR多态位点,分析该位点与TS的关联;采用儿童抑郁量表（CDI）测定TS儿童的抑郁水平。结果112例TS儿童中29例（25．9％）共病抑郁。TS组及其亚组DRD4exonm48bpVNTR位点基因型及等位基因频率与正常对照组比较,差异均无统计学意义（P〉0．05）。在TS组内,携带长重复等位基因组（61例）与短重复等位基因组（51例）CDI总分和因子分比较,差异均无统计学意义（P〉0．05）。结论DRD4exonⅢ48bpVNTR与TS共病抑郁之间可能不存在关联。     

DRD2基因多态性与帕金森病的相关性分析

目的:分析帕金森病(Parkinson's Disease,PD)患者DRD2(dopamine receptor D2)基因的rs6276和rs6275位点多态性,探索DRD2基因多态性与散发型PD易感性的关联。方法:纳入77例PD患者和54例健康对照作为研究对象,对两组受试者DRD2基因位点rs6276和rs6275的基因型及等位基因频率进行统计分析,分析其与PD患病之间的关联性。结果:⑴rs6276和rs6275位点突变同步,共有3种基因型(AACC、AGCT、GGTT),其中基因型AACC、GGTT在病例组与对照组间有差异(分别为χ2=7.755,P=0.005;χ2=5.139,P=0.023)。与PD易感性之间的线性关联系数为9.252,P=0.002;⑵rs6276和rs6275位点等位基因频率(A/G、C/T)与PD易感性有关(χ2=10. 488,P=0.001);⑶将性别和年龄作为协变量进行调整后,基因型AGCT的OR值上调(2.233～2.659,P=0.002),基因型GGTT的OR值上调(3.558～3.731,P=0.000)。结论:rs6276和rs6275变异与PD易感性存在关联,rs6276和rs6275突变型是PD患病的危险因素。     

HLA—G基因14bp插入／缺失多态性与我国汉族类风湿关节炎相关性研究HLA—G基因14bp插入／缺失多态性与我国汉族类风湿关节炎相关性研究

目的探讨HLA—G基因14bp插入／缺失多态性与类风湿关节炎（RA）易感性的相关性,并分析其不同基因型间RA患者临床特点的差异。方法多聚酶链式反应（PCR）检测154例RA患者及367名健康体检者的HLA—G基因14bp插入／缺失多态性,比较不同基因型RA患者间关节肿胀数、关节压痛数、关节晨僵时间、病情活动指数DAS28积分及实验室指标如C反应蛋白（CRP）、血沉（ESR）、类风湿因子（RF）、抗CCP抗体滴度的差异。结果HLA-G 14bp插入／缺失多态性基因型频率分布在正常人和RA患者均显示Hardy-Weinberg平衡（正常人组：χ^2=0．095,P=0．953;RA组：χ^2=0．533,P=0．766）;HLA—G1 4bp插入／缺失多态性基因和基因型频率与RA易感性均元显著性的相关性联系;与＋14bp／＋14bp和＋14bp／-14bp基因型RA患者比较,-14bp／-14bp纯合子基因型RA患者的压痛关节数（P=0．049）、肿胀关节数（P=0．004）明显增多,病情活动指数DAS28明显更重（P=0．028）,RF滴度更高（P=0．001）。结论HLA-G基因14bp插入／缺失多态性与RA疾病易感性无关,但可影响RA患者的临床表现,HLA-G—14／-14bp纯合子型可能作为预后不良因素参与到RA疾病机制之中。     

抽动-秽语综合征脑诱发电位的研究

观察抽动-秽语综合征(TS)脑诱发电位电活动变化。 方法TS 40 例和对照组32例进行了脑诱发电位检查。 结果视觉诱发电位(VEP)TS组T2、N2,波潜伏期比对照组显著延长(P     

α1-抗糜蛋白酶信号肽基因及载脂蛋白E基因多态性与帕金森病的关系[郝怡鑫,等.中华医学杂志,2001,81(19):1172]

目的:探讨α1-抗糜蛋白酶(AACT)信号肽基因多态性、载脂蛋白E(ApoE)基因多态性与帕金森病(PD)发病风险间的关系.方法:采用聚合酶链式反应限制性片断长度多态性方法(PCR-RFLP),在64例PD患者、101例健康老人中对照观察AACT信号肽基因多态、ApoE基因多肽的分布,并通过比值比(OR)对AACT多态、ApoE多态与PD作相关分析.结果:(1)PD患者与正常老人间不存在AACT各等位基因多态分布的差异(χ2=0.83,P=0.363<0.05),但PD患者AACT-AA纯合子基因型与PD呈正关联(OR=2.68, χ2=4.31,P=0.038<0.05).(2)AopE基因多态性与PD之间不存在任何关联(等位基因:χ2=2.85,P=0.241>0.05;基因型:χ2=9.25,P=0.099>0.05).(3)非ApoEε4型AACT-AT杂合子基因型与PD负关联(OR=0.47,χ2=4.10, P=0.043<0.05).(4)AACT-AT杂合子型PD与ApoEε4等位基因正关联(OR=3.26,χ2=5.53,P=0.019<0.05).结论:AACT-AA纯合子基因型、ApoEε4型AACT-AT杂合子基因型均可能是PD发病的风险因子.     

Value of D-Dimers in patients with acute aortic dissection

Objective: To evaluatel the value of D-dimers in patients with acute aortic dissection (AAD). Methods: This study consisted of 16 patients with AAD and 27 non-AAD patients. Serum D-dimets were measured by Sta-Liatest D-DI immunoturbidimetric assay. Results: D-dimer level was higher (P ＜ 0.001) in patients with AAD(7.91 ± 5.52 μg/ml) than that in non- AAD group(1.57±1.24 μg/ml). D-dimer was positive (＞0.4 μg/ml) in all patients with AAD and in 10 control group patients (37%). Among patients with acute AAD, D-dimers tended to be higher in Stanford A than in Stanford B (8.67 ± 4.31 μg/ml vs. 3.24±1.27 μg/ml, P ＜0.01). D-dimer values tended to be higher in more extended disease(3.84 ± 1.65 μg/ml, 8.57 ± 3.58 μg/ml and 11.87 ± 5.69 μg/ml in thoracic aorta, thoracic and abdominal aorta, thoracic and abdominal aorta and iliacal arteries, respectively, P ＜ 0.05 for both 8.57 ± 3.58 and 11.87 ± 5.69 vs. 3.84 ± 1.65 ). Including the control group into the analysis, we found a sensitivity of 100%, a negative predictive value of 100%, and a specificity of 66% and a positive predictive value of 64% for D-dimer in diagnosis of AAD in our patients with suspected AAD. Conclusion: D-dimer was elevated in patients with AAD. A negative D-dimer test result could be useful in excluding AAD.     

Research of combined liver-kidney transplantation model in rats

Objective： To set up a simple and reliable rat model of combined liver-kidney transplantation. Methods： SD rats served as both donors and recipients. 4℃ sodium lactate Ringer＇s was infused from portal veins to donated livers,and from abdominal aorta to donated kidneys, respectively. Anastomosis of the portal vein and the inferior vena cava （IVC） inferior to the right kidney between the graft and the recipient was performed by a double cuff method, then the superior hepatic vena cava with suture. A patch of donated renal artery was anastomosed to the recipient abdominal aorta. The urethra and bile duct were reconstructed with a simple inside bracket. Results： Among 65 cases of combined liver-kidney transplantation, the success rate in the late 40 cases was 77.5%. The function of the grafted liver and kidney remained normal. Conclusion： This rat model of combined liver-kidney transplantation can be established in common laboratory conditions with high success rate and meet the needs of renal transplantation experiment.     

BLOOD PRESSURE CHANGE WITH AGE IN SALT-SENSITIVE TEENAGERS

Objective To observe blood pressure change with age in salt-sensitive teenagers whose salt sensitivity were determined by repeated testing.Methods Salt sensitivity was determined through intravenous infusion of normal saline combined with volume-depletion by oral diuretic furosemide in 55 teenagers. After five years, salt sensitivity was re-examined and subject blood pressure was followed up. Blood pressure changes in salt-sensitive teenagers were compared to that of non-salt sensitive teenagers over five years.Results After 5 years, the repetition rate of salt sensitivity determined by intravenous saline loading is 92.7%. In teenagers with salt sensitivity on the baseline, both the systolic blood pressure increments and increment rates were much higher than non-salt sensitive teenagers (12.7±12.1 mmHg vs. 2.8±5.2 mmHg, P＜ 0.01; 12.2%± 12.0% vs. 2.5% ±4.4%, P＜ 0.001,respectively). There was a similar trend for diastolic blood pressure (8.4 ± 6.4 mmHg vs. 3.7 ± 6.4 mmHg, P = 0.052; 13.2% ±10.6 % vs. 6.8%± 10.1%, P = 0.053, respectively).Conclusions Salt sensitivity determined by intravenous saline loading showed good reproducibility. Blood pressure increments with age were much higher in salt-sensitive teenagers than non-salt sensitive teenagers, especially in terms of systolic blood pressure.     

安心颗粒对急诊经皮冠状动脉介入术后生活质量影响的研究

目的：评价使用安心颗粒对急诊经皮冠状动脉介入术（PPCI）术后生活质量的影响.方法：将160例接受PPCI的急性ST段抬高型心肌梗死患者随机分为安心颗粒组（术前顿服安心颗粒8.8g,术后安心颗粒4.4 g/次,每日2次）和对照组（仅接受基础药物治疗）.所有患者均服用阿司匹林、氯吡格雷和阿托伐他汀.分别在入院时、出院前1d、出院后180 d时,应用心肌梗死多维度量表（MIDAS）、中文版SF-36评价量表对患者生活质量评分.并观察术后30 d以内的出血并发症、血小板减少症发生情况.结果：入院时和出院前1d,两组患者的心肌梗死MIDAS、SF-36量表评分比较无差异（P＞0.05）;出院后180 d时,与对照组比较,安心颗粒组MIDAS、SF-36评分明显减低（P＜0.05）;组内与入院时比较,两组出院前1d、出院后180 d时,MIDAS、SF-36评分均降低（P＜0.05）.两组患者在随访期间均无大量出血、少量出血、重度和极重度血小板减少症发生,安心颗粒组有4例、对照组有7例发生不明显出血（P＞0.05）.两组发生轻度血小板减少症的患者数比较无差异（P＞0.05）.结论：PPCI使用安心颗粒,能改善急性ST段抬高型心肌梗死患者的生活质量,且不增加出血风险.     

The comparative studies of the influences of Urapidil and Nicardipine on sino-atrial node function, atrio-ventricular node function and hemodynamics

Objective:To investigate the influences of urapidil and nicardipine on rabbit sinus function,atrio-ventricular node function and hemodynamics.Methods:Thirty-two Angora's rabbits were selected and randomly divided into four groups.U1 group:urapidil 0.25 mg/kg;U2 group:urapidil 0.5 mg/kg;N1 group:nicardipine 10 μg/kg;N2 group:nicardipine 20 μg/kg.All these medicine were administrated within 30 seconds.Measurements were taken before and after the administration of urapidil or nicardipine for the following data:mean blood pressure(MAP),heart rate(HR),sino-atrial conduction time(SACT),maximal sinoatrial recovery time(SNRTmax)corrected sinus node recovery time(CSNRT),index of sinus node recovery time(SNRTI),Wenckebach A-V conduction frequency (WB),and P-R interval.Results:Significant MAP and HR changes were identified in all of the four groups before and after administration of both urapidil and nicardipine.No significant changes could be found in the rest of the parameters.Intergroup analysis showed that SACT and CSNRT of N1 and N2 groups were shorter than those of the U2 group(P＜0.01);the MAP decreased(P＜0.01)and the HR increased drastically(P＜0.01).Conclusions:Neither urapidil(0.25 mg/kg,0.5 mg/kg)nor nicardipine(10μg/kg,20μg/kg)has any significant influence on rabbit sinus function or rabbit atrio-ventricular node function.Nicardipine could be a better choice than urapidil for parafunctional sinus node patients.     

Expression of OPGmRNA and ODFmRNA in the patients of hip fracture due to osteoporosis

Objective：To investigate the gene expression of osteoprotegerin（OPG） and osteoclast differentiation factor（ODF） in the bone tissue of patients with hip fracture due to osteoporosis. Methods：OPGmRNA and ODFmRNA in the bone tissue in 50 cases of osteoporosis sufferers（over 50 years old） with hip fracture（Observer Group） and 30 cases of hip facture sufferers with no osteoporosis（Control group） were analyzed with the Semi-Quantitative RT-PCR method. Results：The mRNA expressed of ODF, OPG were both high in the patients with hip fracture. In the control group, the expression of OPG mRNA was observed, while the expression of ODF mRNA was very slight. Conclusion：Aged patients contained all signals including OPG, ODF that are essential for inducing osteoclastogenesis and promoting bone resorption.     

The clinicopathological and immuohistochemical analysis of solid-pseudopapillary tumor of the pancreas： report of 9 cases

Objective：To investigate the clinical features, pathological characteristics and immunophenotype of solid-pseudopapillary tumor of the pancreas（SPTP）. Methods：Nine surgically treated cases of SPTP were retrospectively reviewed. Hematoxylin and Eosin（HE） staining and immunohistochemical staining were used to analyze all cases, and the general clinical data was collected. Results：Six patients were asymptomatic except for a palpable mass. Two patients complained of vague-epigastric pain. One patient appeared jaundice. The tumor was encapsulated and solid tissues alternately with cystic tissues. Histologically, the histological structure of solid portion was pseudopapillary with a fibrovascular core. Tumor cells were uniform and medium-sized which were arranged in sheets ets or nests or pseudopapillary patterns. Immunohistochemical studies demonstrated that SPTP proved positive in vimentin（9/9 cases）, AAT（9/9 cases）, NSE（9/9 cases）, ACT（7/9 cases）, CK20（2/9 cases）, CgA（1/9 cases）, S-100（3/gcases）, PR（4/gcases）, Syn（3/9 cases） and CD56（5/9cases）, negative in CEA and ER. Conclusion：SPTP is a tumor predominantly occurring in young women frequently without special symptoms. This tumor has various characteristical histological patterns with different immunophenotype.     

Dynamic Changes in Serum Estradiol and Progesterone levels in Patients of Premenstrual Syndrome with Adverse Flow of Liver-qi

Objective:To probe into the influence of changes of ovarian hormones on the pathogenesis of the specific sub-type premenstrual syndrome(PMS)and reveal partial microcosmic mechanisms of adverse flow of liver-qi.Methods:Estradiol(E2)and progesterone(P)levels in serum were determined at different phases of menstrual cycle by radioimmunoassay.Results:In the group of PMS with adverse flow of liver-qi.the secretive peak value Of E2 and P at the follicular phase significantly decreased,and the secretive peak value at the luteal phase did not come into being.Conclusions:Low E2 and P secretive peak at the follicular phase and absence of secretive peak at the luteal phase is one of the microcosmic mechanisms of PMS with adverse flow of liver-qi.One of the pathophysiologic mechanisms of specific sub-type PMS is probably the continuous low level of E2and P.     

Real-time Three-dimensional Echocardiography in Assessment of Left Ventricular and Right Ventricular Volumes

Real-time three-dimensional echocardiography (RT3DE)is a new ultrasound technique that enables dynamic threedimensional visualization and quantification of the heart in real time. Investigation of feasibility and methodology of RT3DE in determining left ventricular (LV) and right ventricular (RV) volumes, RT3DE was performed in 35 normal adults using Philips SONOS 7500 system with a 2-4 MHz matrix array transducer. The 60°×60° "pyramid" volume database was obtained and analyzed on a TomTec echo workstation. Both LV and RV volumes were calculated with four 3DE methods (i.e. apical 2, 4, 8, and 16-plane) through manually tracing ventricular endocardial borders in end diastole and end systole. Stroke volumes were then calculated. LV volume was also measured by 2DE Simpson's rule using GE VIVID 7 ultrasound machine.     

SCREENING FOR A 21-CHROMOSOME ABNORMALITY IN PREIMPLANTED EMBRYOS OF ELDERLY WOMEN

Increasing maternal age is the only etiological factor unequivocally linked to Down's syndrome in humans. The occurrence rate of newborns with Down's syndrome is about 1/220 in women over 35 years old. However, the occurrence rate in embryos fertilized in vitro, of the elder woman is unclear. Using FISH we screened the number of chromosome 21 in preimplanted embryos of 5 elderly women (average age, 38.4 years) to study the feasibility and necessity of screening trisomy 21 in embryos in patients over 35 years old at the in vitro fertilization (IVF) center.