瘦素基因启动子区G-2548A多态性与脑梗死和腹型肥胖关系

目的探讨中国青岛地区汉族人群瘦素基因启动子区G-2548A多态性与腹型肥胖和脑梗死的关系。方法采用聚合酶链反应和限制性片段长度多态性（PCR-RFLP）的方法,对216例脑梗死病人和182例健康者（对照组）的瘦素基因启动子区G-2548A位点进行多态性分析;根据腹围将两组均分为腹型肥胖组和非腹型肥胖组。结果所有受检者的基因型频率分布符合Hardy-Weinberg平衡。脑梗死组GG基因型频率显著高于对照组（χ2=62.574,P〈0.001）,G等位基因频率显著高于对照组（χ2=29.173,P〈0.001）。GG基因型人群患脑梗死的风险是GA＋AA基因型的2.494倍（OR=2.494,95%CI=1.344-4.631）,GG基因型人群空腹血浆瘦素水平高于GA＋AA基因型（t=6.924,P〈0.001）。腹型肥胖者的基因型分布和等位基因频率与非腹型肥胖者相比差异无显著性（P〉0.05）。结论瘦素基因启动子区G-2548A多态性可能与脑梗死的易感性有关,G等位基因可能是脑梗死的遗传易感因素,瘦素基因启动子区G-2548A的多态性与腹型肥胖无相关性。     

瘦素基因启动子G-2548A多态性与青年高血压的相关性研究

目的 探讨瘦素基因多态性与青年人高血压的相关性.方法 采用PCR-RFLP技术对98例青年高血压患者、105例青年血压正常者和86例老年高血压者的瘦素基因G-2548A位点多态性进行研究,并分析比较三组人群该基因基因型及等位基因的分布.结果 青年高血压组AG/GG基因型频率和G等位基因频率明显高于青年正常对照组(P＜0.05);青年高血压组AG/GG基因型频率和G等位基因频率明显高于中老年高血压病例组(P＜0.05).结论 青年高血压组G等位基因频率明显高于青年正常组和中老年高血压组,瘦素基因启动子G-2548A多态性可能与青年人高血压存在关联.     

载脂蛋白E基因多态性与原发性高尿酸血症相关性研究

目的：探讨维吾尔族与汉族载脂蛋白E基因多态性与原发性高尿酸血症的相关性。方法：收集2006年1～12月在新疆医科大学附属中医医院和乌鲁木齐市宝科达医院健康体检的670人血标本,检测血尿酸、血液生化指标以及ApoE基因型。结果：新疆维吾尔族和汉族ApoE基因型分布差异有统计学意义（P〈0.05）,汉族高尿酸组和正常组ApoE基因型分布总体差异有统计学意义（P〈0.05）,而维吾尔族总体差异无统计学意义（P〉0.05）。汉族和维吾尔族ApoE基因型中E3/3占主导,汉族E2/2〉E4/4,而维吾尔族正好相反。与正常组相比,高尿酸组ApoEε2等位基因频率降低,而ε4频率升高,ε4等位基因可能是原发性高尿酸血症的危险因素。两个民族高尿酸组不同等位基因血尿酸（SUA）和除高密度脂蛋白-胆固醇（HDL-C）外的各生化指标均高于正常组,而且两个民族高尿酸组和正常组尿酸和血脂代谢指标水平在ApoE等位基因ε2、ε3、ε4型中也有一定的差别。结论：ApoEε4等位基因可能是汉族和维吾尔族原发性高尿酸血症的遗传易感基因,但仍然表现出民族的差异。     

瘦素基因启动子区G-2548A 多态性 与2 型糖尿病肾病的关系

目的 探讨瘦素基因启动子区G-2548A（rs7799039） 多态性与2 型糖尿病肾病的关系。 方法 选取2016 年5 月—2017 年5 月在华北理工大学附属医院内分泌病区住院的2 型糖尿病患者416 例。 其中,无糖尿病肾病组224 例,男性102 例,女性122 例,平均年龄（56.2±11.1）岁;2 型糖尿病肾病组 192 例,男性96 例,女性96 例,平均年龄（58.3±11.5）岁。采用聚合酶链反应及限制性片段长度多态性方 法测定G-2548A 基因型,比较两组基因型和等位基因多态性的不同。结果 ① 2 型糖尿病肾病组患者血清瘦 素水平、尿素氮、肌酐、糖化血红蛋白、收缩压、舒张压高于无糖尿病肾病组（P <0.05）;两组尿酸和血脂 相关指标比较,差异无统计学意义（P >0.05）。②两组患者G-2548A 基因型和等位基因分布频率比较,差异 有统计学意义（P <0.05）。结论 瘦素基因启动子区G-2548A 基因型分布、等位基因多态性与2 型糖尿病肾 病有关,其中A 等位基因可能是2 型糖尿病肾病发生、发展的易感基因。     

hURAT1基因3’非编码区SNP筛查及与原发性高尿酸血症的关系

目的在人尿酸盐转运蛋白1（hURAT1）基因3’非编码区（3’UTR区）筛查与原发性高尿酸血症关联的单核苷酸多态性（SNP）。方法对原发性高尿酸血症病人273例、健康体检者429例（正常对照组）,采用酚-氯仿法提取外周血白细胞基因组DNA,特异性引物扩增3’UTR区,并进行基因测序,对基因型及频率进行分析。结果共检测到3种SNP,分别为1925G〉A、del G1951及G2174A,上述SNP位点所组成的基因型频率在高尿酸血症病人组和正常对照组差异无显著性。2例原发性高尿酸血症病人hURAT1基因3’UTR区第1827—1828位2个碱基缺失（delTC1827—1828）,这2例病人的血尿酸水平明显高于其他病人,正常对照组未检测到该缺失。结论3’UTR区存在3个SNP位点,其中delTC1827—1828位点可能是原发性高尿酸血症致病位点。     

瘦素受体基因Gln223Arg位点多态性在哮喘发病中的作用

目的探讨瘦素受体基因Gln223Arg位点多态性在哮喘发病中的作用机制。方法留取185例哮喘患者和207例健康人的空腹外周血,应用ELISA法测定血浆瘦素浓度,提取白细胞DNA组,应用聚合酶链反应-限制性内切酶片段长度多态性（PCR-RFLP）方法对瘦素受体基因Gln223Arg位点基因型进行分析。结果哮喘组与健康组瘦素受体基因Gln223Arg位点等位基因A和G频率分布具有差异性,哮喘组G等位基因频率显著高于健康组（2=6.173,P=0.013,OR=1.697,95%CI 1.115~2.585）;哮喘组与健康组基因型分布具有差异性,其中GG基因型患哮喘的风险较高,为GA＋AA基因型的1.895倍（2=7.283,P=0.007,OR=1.895,95%CI 1.187~3.024）;GG基因型血浆瘦素[（2.56±1.47）ng/m L]显著高于GA＋AA基因型[（2.16±1.66）ng/m L]。结论瘦素受体基因Gln223Arg位点多态性和哮喘的发病具有相关性,G等位基因可能通过高瘦素血症诱导哮喘的发病,是哮喘的遗传易感因子。     

瘦素基因G2548A多态性及环境因素与胆囊胆固醇结石关联性研究

目的评估瘦素基因（LEP）G2548A单核苷酸多态性（SNP）及环境因素与胆囊胆固醇结石发病危险的关联性,同时探究该多态性位点与环境因素对胆囊胆固醇结石的发生是否存在交互作用。方法收集符合条件的胆囊胆固醇结石患者200例进行1∶2匹配的病例对照研究（对照组400例）。应用高分辨率熔解曲线（high-resolution melting, HRM）技术作基因分型检测并对结果进行测序验证,采用多因素分析探索基因多态性及血清瘦素水平与胆囊胆固醇结石的关联性。采用多因子降维法（multifactor dimensionality reduction, MDR）探索基因与环境因素的交互作用对胆囊胆固醇结石发病的影响。结果通过HRM基因分型检测,共得到LEP G2548A位点３种基因型,分别为野生型GG（52例）,突变杂合型GA（192例）和突变纯合型AA（356例）。该SNP位点在对照组中的基因型分布均符合Hardy-Weinberg 遗传平衡（P>0.05）。LEP G2548A位点AA基因型携带者血清瘦素水平高于GA/GG基因型携带者,差异有统计学意义（H=6.83, P<0.05）。多因素条件logistic 回归分析结果显示,在调整年龄、性别以及其他影响因素后,胆固醇结石危险因素是:血清高瘦素水平〔标准偏回归系数（β）=0.781,比值比（OR=5.012,95%可信区间（95%CI）:3.248~7.734〕、LEP G2548A突变纯合子AA基因型（β=0.527,OR=2.292,95%CI:1.012~5.193）、胆结石家族史（β=0.267,OR=2.984,95%CI:1.329~6.700）、高收缩压（β=0.239,OR=1.927,95%CI:1.140~3.255）以及吸烟（β=0.236,OR=1.717,95%CI:1.006~2.928）;而保护因素是:饮浓茶习惯（β=-0.477,OR=0.552,95%CI:0.336~0.907）与坚持锻炼（β=-0.252,OR=0.591,95%CI:0.395~0.882）。MDR分析结果显示,饮茶习惯- LEP G2548A多态性-血清瘦素水平组合为最优基因-环境交互作用模型。结论LEP G2548A位点AA基因型可能通过影响血清瘦素水平增加发生胆囊胆固醇结石风险,而携带AA 基因型且有饮淡茶习惯的血清高瘦素水平者对胆囊胆固醇结石可能更加易感。     

高尿酸血症TNF-a启动子区基因多态性与其代谢表型的关系

目的 探讨中国人群高尿酸血症患者TNF-a启动子区-308位点多态性、-238位点基因多态性与HUA及其代谢表型的关联。方法 高尿酸血症患者188例，正常人51例，应用聚合酶链反应-限制性片段长度多态性分析方法，检测TNF-a基因启动子区-308G／A单核苷酸多态性位点基因型；尿酸酶法测血尿酸，葡萄糖氧化酶法测快速血糖。比色法测总胆固醇和甘油三酯，高密度脂蛋白胆固醇由选择性抑制法测定。上述化验均在血样提取后3h内完成。-20℃保存血样以便测定胰岛素浓度，免疫放射测定法测得胰岛素。随机选择高尿酸血症患者35例，正常人39例，同样方法检测TNF-a基因启动子区-238G／A单核苷酸多态性位点基因型及各生化指标。结果 对两位点单核苷酸多态性分析发现，高尿酸血症组-308位点AA＋GA分布频率（23．94％）明显高于对照组（11．76％）（P=0．0001）；-238位点的GG和GA基因型分布频率在两组之间无明显差异（P=0．08）。同时，-308位点的GA＋AA基因型组和GG型组相比，其中腰臀比、收缩期和舒张期血压、尿酸、甘油三酯差别均有统计学意义（P=O．05～0．01）；-238位点的两组基因型间各检测指标差别均无意义。结论 本研究结果显示HUA个体中TNF-Ot启动子区-308A携带者的基因型与高尿酸血症及其代谢表型有关。     

E-选择素+G98T,+A561C基因多态性与原发性高血压及左室重构的关系

目的：探讨E-选择素（E-selectin）＋G98T,＋A561C基因多态性与原发性高血压及左室重构的关系．方法：对105例原发性高血压患者（高血压组）及94健康正常人（对照组）进行E-selectin＋G98T,＋A561C基因多态性检测及超声心动图、血脂水平检测．结果：①E-selectin＋A561C各基因型在原发性高血压组和对照组间的分布差异存在统计学意义（P〈0.05）;②E-selectin＋G98T基因型在原发性高血压组和对照组间的分布差异无统计学意义（P〉0．05）;等位基因频率在两组中分布差异亦无统计学意义（P〉0．05）;③原发性高血压组内,AC-CC基因型更倾向于发生左室肥厚（P〈0．05）;④原发性高血压组和对照组E＋selectin＋G98T位点及＋A561C位点各基因型组间血脂水平比较差异均无统计学意义（P〉0．05）．结论：E-selectin＋A561C位点单核苷酸多态性与原发性高血压具有相关关系,C等位基因可能是原发性高血压发病的遗传易感基因．C等位基因原发性高血压患者更倾向于出现左室重构．     

瘦素基因G-2548A多态性与儿童肥胖症的相关性

目的观察瘦素基因G-2548A多态性与儿童肥胖的关联性。方法197例汉族儿童,其中正常体重组68例,轻度肥胖组81例,中、重度肥胖组48例,采用PeR—RFLP方法对瘦素基因-2548位点的基因型进行检测,分析其多态性与各临床表型的相关性。结果在正常体重组与肥胖组间G-2548A基因型与等位基因频率的分布不存在显著性差异（P＞0．05）;在197例观察对象中,腰臀比在不同基因型组间有统计学差异（17=7．219,P=0．022）,而BMI、血清瘦素在不同基因型组间的差异均无统计学意义。结论瘦素基因G-2548A多态性影响汉族肥胖儿童的局部脂肪分布。     

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.