甘露糖结合凝集素基因多态性与肺结核的相关性研究

目的探讨甘露糖结合凝集素(MBL)基因多态性与肺结核的相关性。方法收集新乡医学院第一附属医院肺结核患者158例作为研究组,其生物学父母作为对照组。运用聚合酶链反应扩增及单核苷酸多态性的分子生物学技术,对MBL基因的rs69287125、rs137824326多态性分型,进行肺结核与甘露糖结合凝集素基因多态性的关联分析和单体型相对风险率分析。结果 rs69287125等位基因与肺结核相关联(P=0.011),其中等位基因G是保护因素(Z=-2.31),A为危险因素(Z=2.31);rs137824326等位基因与肺结核相关联(P=0.007),其中等位基因G是保护因素(Z=-2.54),A为危险因素(Z=2.54)。rs69287125-rs137824326单体型的A/A、G/G与肺结核有关联(P=0.021,0.015;Z=2.16,―1.85)。结论 MBL基因与肺结核相关联。     

磷酸丝氨酸氨基转移酶1基因多态性与精神分裂症的关联研究

目的 探讨磷酸丝氨酸氨基转移酶1( PSAT1)基因多态性与精神分裂症的关联性.方法 收集西安市精神卫生中心精神分裂症患者158例作为研究组,其生物学父母316例作为对照组.运用聚合酶链反应扩增及单核苷酸多态性的分子生物学技术,对PSAT1基因的rs69287125、rs137824326多态性分型,进行精神分裂症与磷酸丝氨酸氨基转移酶l基因多态性的关联分析和单体型相对风险率分析.结果 rs69287125等位基因与精神分裂症相关联(P=0.011),其中等位基因G是保护因素(Z=-2.31),A为危险因素(Z =2.31);rs137824326等位基因与精神分裂症相关联(P=0.007),其中等位基因G是保护因素(Z=-2.54),A为危险因素(Z=2.54).rs69287125-rs137824326单体型的A/A、G/G与精神分裂症有关联(P=0.021,0.015,Z=2.16,- 1.85).结论 PSAT1基因与精神分裂症相关联.     

磷酸二酯酶4B基因多态性与精神分裂症的关联研究

目的 探讨磷酸二酯酶4B基因多态性与精神分裂症的相关性.方法 运用聚合酶链反应扩增及单核苷酸多态性的分子生物学技术,收集符合精神分裂症诊断标准的98个先证者及其父母组成的核心家系,对其磷酸二酯酶4B基因rs1040716,rs2180335,rs3767311,rs472952多态性分型,进行精神分裂症的磷酸二酯酶4B基因多态性的关联分析和单体型相对风险率分析.结果 rs2180335等位基因与精神分裂症相关联(P=0.02131),其中等位基因A是保护因素(Z=-2.184),G为危险因素(Z=2.184),A等位基因频率为0.452.G为0.548;rs1040716,rs3767311,rs472952与精神分裂症无关联.五种单体型rs2180335-rs3767311的A/A、rs 3767311-rs472952的A/A、rs2180335-rs3767311-rs472952中的A/A/A、rs1040716-rs2180335-rs 3767311-rs472952中的A/G/G/A,T/A/A/A与精神分裂症有关联(P值分别为0.028715,0.034845,0.024177,0.023967,0.010839,基因型频率分别为0.223,0.223,0.127,0.081,0.073).结论 磷酸二酯酶4B基因rs1335042与精神分裂症相关联.     

锚蛋白重复和激酶域1基因多态性与精神分裂症的关联研究

目的 探讨锚蛋白重复和激酶域1(ANKK1)基因多态性与精神分裂症的相关性.方法 收集符合美国DSM-Ⅳ精神分裂症诊断标准的112个先证者及其父母组成的核心家系,运用聚合酶链反应扩增及单核苷酸多态性的分子生物学技术,对ANK K1基因的rs4938015、rs7118900、rs2734849、rs1800497多态性分型,进行精神分裂症与锚蛋白重复和激酶域1基因多态性的关联分析和单体型相对风险率分析.结果 rs2734849等位基因与精神分裂症相关联(P=0.026),其中等位基因T是保护因素(Z=-2.19),A为危险因素(Z=2.19);rs4938015、rs7118900、rs1800497与精神分裂症无关联.三种单体型rs7118900-rs2734849的G/A、rs 2734849-rs1800497的A/C、rs7118900-rs2734849-rs1800497中的G/A/C与精神分裂症有关联(P值分别为0.032,0.041,0.046,基因型频率分别为0.36,0.29,0.17).结论 ANKK1基因与精神分裂症相关联.     

D-氨基酸氧化酶基因多态性与精神分裂症的关联研究

目的 探讨D-氨基酸氧化酶(DAAO)基因多态性与精神分裂症的相关性.方法 运用聚合酶链反应扩增及单核苷酸多态性的分子生物学技术,收集符合美国DSM-Ⅳ精神分裂症诊断标准的112个先证者及其父母组成的核心家系,对DAAO基因的rs3741775、rs3825251、rs3918347、rs4964770多态性分型,进行精神分裂症的DAAO基因多态性的关联分析和单体型相对风险率分析.结果 rs3918347等位基因与精神分裂症相关联(P=0.014),其中等位基因A是保护因素(Z=2.37),G为危险因素(Z=2.37),A等位基因频率为0.41,G为0.59;rs3741775、rs3825251、rs4964770与精神分裂症无关联.三种单体型rs3825251-rs3918347的C/G、rs3918347-rs4964770的G/T、rs3825251-rs3918347-rs4964770中的C/G/T与精神分裂症有关联(P值分别为0.021、0.036、0.028,基因型频率分别为0.33、0.28、0.15).结论 DAAO基因与精神分裂症相关联.     

谷氨酸受体基因多态性与精神分裂症的相关性研究

目的 探讨谷氨酸受体基冈(GRIK2)多态性与精神分裂症的相关性.方法 运用聚合酶链反应扩增及单核苷酸多态性的分子生物学技术,收集符合精神分裂症诊断标准的98个先证者及其父母组成的核心家系,对其谷氨酸受体基因rs1338165,rs728024,rs1408768,rs1335042 多态性分型,进行精神分裂症的谷氨酸受体基因多态性的关联分析和传递不平衡(TDT)检验.结果 rs1335042等位基因与精神分裂症相关联(P=0.026261),其中等位基冈A是保护因素(Z=-2.222),G为危险因素(Z=2.222);rs1408768、rs728024、rs1338165与精神分裂症无关联.结论 谷氨酸受体基因rs1335042与精神分裂症相关联.     

5-羟色胺转运体基因rs9863857与抑郁症及其临床特征的相关性研究

目的 探讨中国汉族人群5-羟色胺转运体基因 (5-HTT )rs9863857多态性与抑郁症及临床特征的相关性.方法 运用聚合酶链反应扩增及单核苷酸多态性的分子生物学技术,对符合抑郁症诊断标准的82个先证者及其父母组成的核心家系,测定5-羟色胺转运体基因rs9863857分型,进行抑郁症的5-羟色胺转运体基因rs9863857多态性的关联性分析.根据抑郁症患者汉密尔顿抑郁量表评分,分析该多态性与抑郁症临床特征的相关性.结果 rs9863857等位基因与抑郁症相关联(χ2=4.63,P<0.05),其中等位基因A是保护因素(Z=-2.142),G为危险因素(Z=2.142).症状学分析显示抑郁情绪与5-HTT基因多态性有关,具有等位基因A及其纯合子的患者抑郁情绪得分显著较低,其中A/A、A/G、G/G基因型评分分别为(2.3±0.6)分、(2.9±0.7)分、(3.8±0.9)分(F=3.23,P<0.05).HAMD量表评分比较中,等位基因A抑郁情绪项目的得分[(2.8±0.7)分]明显较等位基因G低[(3.5±1.2)分,t=2.513,P<0.05].结论 5-HTT基因rs9863857与抑郁症相关联,A/A纯合子可能是抑郁症的保护因子.     

白介素-16基因多态性与广西地区鼻咽癌遗传易感性的研究

目的研究广西地区人群白介素-16(IL-16)基因多态性与鼻咽癌(NPC)遗传易感的相关性。方法对来自广西地区的75例鼻咽癌患者和75例健康体检者采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)及酶联免疫吸附法,分析IL-16基因的3个单核苷酸多态性(SNP)位点(rs11556218T/G、rs4778889T/C、rs4072111C/T)多态性与NPC的相关性。结果 IL-16基因rs11556218位点在NPC患者中TG基因型分布频率(49.3%)显著高于健康对照组(34.7%)(P=0.037)。NPC组IL-16-rs11556218G等位基因频率为32.7%,高于正常对照组的21.3%(P=0.027),并且G等位基因携带者的血清IL-16水平明显高于TT基因型(P=0.00)。携带GTT和GCC单倍型的个体罹患鼻咽癌风险性是携带TTC单倍型者的2.95倍和2.73倍。结论 IL-16基因rs11556218位点的基因多态性与广西地区鼻咽癌的遗传易感性有关,TG基因型可能是NPC发生的易感基因型,携带G等位基因的个体患NPC风险增高。     

IL-12B基因多态性与汉族人寻常型银屑病表型的相关性研究

目的 探讨汉族人寻常型银屑病IL-12B基因多态性与临床表型(发病年龄、家族史、临床类型)的相关性.方法 选取1 139例寻常型银屑病患者和1 132例止常对照的IL-12B基因多态位点rs3213094的基因分型资料(基因分型采用Illumina 610芯片).x2检验用于比较各组间基因型和等位基因频率的分布.结果 IL-12B基因多态位点rs3213094基因型和等位基因频率分布在病例组和对照组间的差异有显著性(P基因型=1.30×10-5,P等位基因=4.2×10-6).少儿发病患者和成人发病患者,家族史阳性患者和家族史阴性患者,慢性斑块型患者和急性点滴型患者间的基因型和等位基因频率分布差异无显著性(P>0.05).结论 结果显示IL-12B(rs3213094)基因多态性与汉族人寻常型银屑病易感性相关联,但与发病年龄,家族史及临床类型可能无显著相关.     

配对盒4基因单核苷酸多态性与妊娠期糖尿病的相关性研究

目的 分析研究配对盒4(PAX4)基因rs10229583位点和rs114202595位点单核苷酸多态性(SNPs)与妊娠期糖尿病的发病风险之间的相关性。方法 本研究共纳入205例妊娠期糖尿病患者作为研究组,招募125例健康妊娠的妇女作为对照组,采用PCR-Sanger测序的方法检测所有受试者PAX4基因rs10229583位点和rs114202595位点基因型。使用Pearson&quot;s Χ2检验和比值比(OR)分析单核苷酸多态性位点基因型和等位基因频率与妊娠期糖尿病的相关性。结果 PAX4基因rs10229583位点G等位基因是妊娠期糖尿病的危险因素(OR=1.485,95%CI=0.983~2.244,Χ2=3.907,P=0.048)。PAX4基因rs114202595位点A等位基因是妊娠期糖尿病的危险因素(OR=2.344,95%CI=1.054~5.368,Χ2=5.158,P=0.023)。PAX4 基因rs10229583位点和rs114202595位点SNPs基因型与妊娠期糖尿病患者的年龄、孕周、BMI、血糖水平、HbAlc、甘油三酯水平等参数之间没有相关性(P＞0.05)。结论 PAX4基因rs10229583位点和rs114202595位点单核苷酸多态性与妊娠期糖尿病发病相关。     

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.