5-羟色胺转运体基因3'端非编码区与心境障碍的关联分析

目的探讨5-羟色胺转运体(5-HTT)基因3'端非编码区UTRG/T与心境障碍之间的分子遗传学联系.方法在中国汉族人群中,以心境障碍核心家系作为研究对象,根据哈佛大学提供的遗传学研究用诊断性检查表(DIGS)自编家系调查表,采用DSM-IV诊断标准并结合一些心理测评工具,以达到表型一致.在72个情感性精神障碍核心家系,232个家系成员(其中双相障碍56例,重性抑郁症34例)中,应用聚合酶链反应(PCR)和限制性片段长度多态性方法,对5-HTT基因3'端非编码区UTRG/T与心境障碍之间的分子遗传学联系进行了以家系为基础的连锁不平衡分析.结果 (1)5-HTT3'UTRG/T位点PCR产物经MseI酶切后,检测出800bp等位基因G片断和745bp及55bp等位基因T片断,等位基因频率分别为88%和12%,等位片断G的频率占明显优势.(2)基因型和等位基因频率在心境障碍患病组和父母对照组之间差异无显著性.GHRR和HHRR分析以及多等位基因ETDT统计分析也没有发现存在连锁不平衡.结论 5-HTT3'UTRG/T位点多态性在心境障碍的发病中可能不起重要作用.     

5-羟色胺转运体基因启动子区多态性与注意缺陷多动障碍的关联分析

目的探讨5-羟色胺转运体（5-HTT）基因启动子区多态性与注意缺陷多动障碍（ADHD）的关系。方法抽取139例ADHD患儿（病例组）、62个ADHD核心家系（家系组，共186人）及115例正常对照（对照组）进行ADHD与5-HTT启动子区多态性（5-HITLPR）的关联分析。结果中国汉族人群中5-HTTLPR除了表现为S等位基因（484bp）、L等位基因（528bp）外，还发现比L等位基因长约88bp的超长片段（简称xL）。患者组5-HTTLPR的S／S、S／L、L／L基因型的频率（分别为52．5％，41．7％，5．8％）和S、L等位基因的频率（分别为73．4％，26．6％）与对照组（S／S、S／L、L／L基因型分别为58．3％，32．2％，9．5％；S、L等位基因分别为74．3％，25．7％）相比差异无显著性（P〉0．05）；对62个核心家系的基于单体型的单体型相对风险度分析（HHRR）和传递不平衡检验（TDT），未发现等位基因与ADHD存在关联和传递不平衡。结论本研究结果不支持5-HTTLPR与ADHD存在关联。     

自杀未遂与5-羟色胺转运体基因的连锁不平衡研究

目的探讨自杀未遂与5-羟色胺转运体(5-HTT)基因之间的分子遗传学关系。方法以重庆地区汉族人群中自杀未遂核心家系作为研究对象,采集86个核心家系的258个家系成员的肘静脉血,将其分为患者组与父母组。应用聚合酶链反应(PCR)和限制性片段长度多态性方法,研究5-HTT基因启动子区多态性(5-HTTLPR)、5-HTT基因第二内含子多态性(5-HTTVNTR)与自杀未遂之间的分子遗传学关系,并进行基于单体型的单体型相对风险(HHRR)分析及连锁不平衡(TDT)分析。结果父母组和患者组的5-HTTLPR、5-HTTVNTR基因型及等位基因频率的总体分布比较差异均无统计学意义(P>0.05)。HHRR分析结果显示患者组与虚拟对照组的5-HTTLPR、5-HTTVNTR基因频率差异均无统计学意义(P>0.05)。多等位基因TDT统计分析显示86个核心家系分别有54及89个杂合子父母纳入5-HTTLPR、5-HTTVNTR的统计,5-HTTLPR、5-HTTVNTR与自杀未遂间不存在连锁不平衡(P>0.05)。在5-HTT基因的2个多态性位点组合成的4种单体型中进行单体型分析,组间差异均无统计学意义(P>0.05),提示自杀未遂患者与这2个位点形成的单体型不存在传递上的偏倚。结论 5-HTT基因不是自杀未遂的主要遗传基因。     

5-羟色胺转运体基因第2内含子VNTR与情感性精神障碍的连锁不平衡分析

目的探讨5-羟色胺转运体基因第2内含子VNTR(5-HTTVNTR)位点多态性与情感性精神障碍之间的分子遗传学联系.方法在中国汉族人群中,以情感性精神障碍核心家系作为研究对象,根据美国哈佛大学提供的遗传学研究用诊断性检查表(DIGS)自编家系调查表,采用中国精神疾病分类与诊断标准(CCMD-3)并结合一些心理测评工具,以达到表型一致.在72个情感性精神障碍核心家系的222个家系成员(其中双相情感性精神障碍56例,重性抑郁症34例)中,应用聚合酶链反应(PCR)和限制性片段长度多态性方法,对5-HTTVNTR位点多态性与情感性精神障碍之间的分子遗传学联系进行了以家系为基础的连锁不平衡分析.结果基因型和等位基因频率在情感性精神障碍患者组和父母组之间无显著差异.GHRR和HHRR分析以及多等位基因ETDT统计分析也未发现存在连锁不平衡.5-HTTVNTR位点仅扩增出12和10拷贝两种形式的等位基因片段,其中等位片段12的频率为88%.结论 5-HTTVNTR位点多态性在情感性精神障碍疾病的发病中可能不起重要作用.     

5-HTTVNTR与自杀未遂精神病核心家系的相关性研究

目的 了解5-羟色胺转运体(5-HTT)基因第二内含子多态性(5-HTTVNTR)与有精神病的自杀未遂核心家系的相关性.方法 应用聚合酶链反应(PCR)检测5-HTTVNTR,传递不平衡检验(TDT)分析自杀未遂精神病患者5-HTT基因的多态性位点.结果 5-HTTVNTR多态性位点与自杀未遂精神病患者不存在连锁不平衡(χ2=2.38,P>0.05).结论 5-HTTVNTR多态性位点与自杀未遂精神病核心家系无明显相关性.     

5-HTT基因多态性与情感障碍发病及SSRIs疗效的相关性分析

5-HTT基因多态性与情感障碍抑郁症发病及SSRIs疗效的相关性研究是目前研究的热点之一。关于5-HTT基因、5-HTTLPR（包括5-HTTLPR与5-HTT基因表达的调控密切相关、5-HTTLPR与情感障碍抑郁症的关系、5-HTTLPR与SS—RIs抗抑郁疗效的关系）、5-HTTLPR与SSRIs、5-HTT-3’UTRG／T值得进一步探讨，现就此作一综述。     

核心家系5-羟色胺转运体基因第二内含子多态性与自杀未遂的关联分析

目的 探讨5-羟色胺转运体(5-HTT)基因第二内含子多态性(5-HTTVNTR)位点与自杀未遂的关联.方法 收集来自重庆地区汉族人群中,以自杀未遂核心家系作为研究对象,在86个核心家系的258个家系成员中应用聚合酶链反应( PCR)和限制性片段长度多态性方法,对5-HTTVNTR 位点多态性与自杀未遂之间的分子遗传学联系进行了以家系为基础的基于单体型的单体型相对风险分析及连锁不平衡分析.结果 基因型10/10、10/12、12/12在患者组和父母组分别为:13,32,41和21,89,62和等位基因频率10,12在患者组和父母组分别为:58,144和131,213均在自杀未遂患者组和父母组之间差异无显著性(χ2=4.892,P =0.0867;χ2=0.939,P =0.332).未发现5-HTTVNTR 位点多态性与自杀未遂有关联(χ2=2.77,P >0.05),多等位基因TDT 统计分析也未发现存在连锁不平衡(χ2=1.90,P >0.05).5-HTTVNTR位点仅扩增出12 和10 拷贝两种形式的等位基因片段.结论 汉族人群中5-HTTVNTR 位点多态性与自杀未遂间没有明显相关性.     

LAIR1基因3’端非翻译区多态性与胃癌发病风险的关系研究

目的分析人白细胞相关免疫球蛋白样受体1（LAIR1）基因3’端非翻译区（3’UTR）多态性与胃癌发病风险的关系。方法选取经胃镜下组织活检确诊的121例胃癌患者为胃癌组,另取同期收治且年龄、性别相匹配的126例慢性胃炎患者为对照组。采用一代测序法检测并比较两组患者LAIR1基因3’UTR的单核苷酸多态性（SNP）位点基因分布频率,同时分析胃癌患者LAIR1基因3’UTR的多态性与肿瘤分化程度的关系。结果胃癌组患者rs199714928位点G/A基因型及等位基因A分布频率均明显低于对照组（均P＜0.05）,G/G基因型及等位基因G分布频率均明显高于对照组（均P＜0.05）。胃癌组rs1054033与rs6509867位点均存在完全单倍型连锁现象,而对照组有16例存在不完全单倍型连锁现象（P＜0.05）。胃癌低分化患者rs3826753/rs3826754位点A/A基因型及等位基因A分布频率均明显低于中高分化者（均P＜0.05）,等位基因G分布频率明显高于中高分化者（P＜0.05）;不同性别、肿瘤类型、TNM分期、淋巴结转移阳性率患者LAIR1基因3’UTR的SNP位点基因分布频率比较,差异均无统计学意义（均P＞0.05）。结论LAIR1基因3’UTR的rs199714928位点多态性可能是胃癌发生的易感因素;rs1054033与rs6509867位点存在不完全单倍型连锁（T-G单倍型）可能是一种保护机体抵抗胃癌发生的有利因素。     

一性连锁智障家系AGTR2基因新突变位点的检测

目地 探讨AGTR2基因突变与智障的关联关系。方法 通过PCR和直接测序对一性连锁智障家系13个受检个体血管紧张素-Ⅱ2型受体基因（AGTR2）的全长序列进行检测。结果 在AGTR2基因第3外显子3550位点，2个男性患儿均存在C／T碱基替换，该基因第182位编码氨基酸由谷氨酰氨变为终止密码（nt3550C／T．Q182Stop／E3）。正常男性家系成员无此突变，而女性家系成员存在杂合子。结论 nt3550C／T可能为引起该家系学床病变的突变位点，不是多态性位点。在伴性连锁智障疾病中，AGTR2基因的这个单碱基替换突变位点为首次报道。     

昆明地区原因不明复发性流产妇女与HLA—G14bp基因多态性相关性研究

目的探讨人类白细胞抗原G（human leukocyte antigen，HLA）3’非编码区（UTR）14bp基因多态性与原因不明复发性自然流产的相关性。方法对原因不明复发性流产患者26例和正常妊娠妇女51例静脉采血，提取DNA。用PCR方法检测HLA—G 14bp基因多态性。结果-14bp／-14bp缺失纯合子、＋14bp／＋14bp插入纯合子、-14bp／＋14bp缺失／插入杂合子基因型在两组间分布差异无显著意义；一14bp和＋14bp等位基因频率在两组间也无显著型差异。结论昆明地区部分原因不明复发性流产患者的病因与HLA—G 14bp基因多态性可能无直接相关性。     

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.     

Development on Adjustable Calibration Marker for Shock Wave Focus

Shock wave lithotripsy （SWL） is a treatment of choice for upper urinary stones. However, this procedure is inappropriate for obese patients because the focus is often unable to reach the target owing to the limited focal distance in shock wave source. Although treating such patients in a blast path may increase the application length of shock wave source, it＇s difficult to find this path on the lithotripter monitor. For this reason, we invented an adjustable calibration marker in order to set an effective focus in the shock wave hath.     

Study on the TCM Pathogenesis of Angiopathic Complications of Type II Diabetes

Excess production of reactive oxygen species(ROS)of mitochondrion mediated by hyperglycemia is the common pathogenesis of angiopathic complications of diabetes.TCM holds that the damp from the dysfunction of spleen.kidney and liver is the causative factor of complications of diabetes.This is similar to the mechanism of Ros resulting in angiopathic complications of diabetes.When the angiopathic complications of type II diabetes mellitus(T2DM)are difierentiated as caused by turbid damp in TCM can be explained as ROS.Since the obstruction of pathogenic damp in channels and collaterals is said to be the main pathogenesis,the treating principle should be dissolving the damp to remove the obstruction.     

Leptin, Ghrelin and TNF-α before and after Hypo-caloric Traditional Chinese Diet and Auricular Acupuncture

INTRODUCTION Obesity is a complex emergent problem, which can be possibly solved not only by the diet but also by the life style and promotion of a constant physical exercise. 1, 2 No doubt careful attentions must be given to the nutritional condition of obese people, the dietary habits, the somatic build (i.e. distribution of fat mass) and the organic functions linked to formation of the fat mass. All the parameters should be constantly monitored before, during and after a diet treatment. 3, 4, 5     

Relationship between Dysglycemia and Carotid Atherosclerosis in Tibetan Population

People with dysglycemia are at high risk for atherosclerotic diseases. This study aims at investigating the atherosclerotic vascular damage in dysglycemia and its metabolic origin in Tibetan population.     

APPLICATION OF LORNOXICAM TO PATIENT-CONTROLLED ANALGESIA IN PATIENTS UNDERGOING ABDOMINAL SURGERIES

FOR anesthesiologis s ,treatingpostoperativepainhas alwaysbeen a problem.Althoughopioidshave been provedtobe effective,theirsideeffectscouldnotbeignored.With thedevelopmentofscienceand pharmacology,many drugs with aspectsof satisfactoryanalgesicefficacyand couldbe welltoleratedby patientshave been developed.And lornoxicamisone of them, which isa non-steroidalanti-inflammatorydrug (NSAID ), with analgesic, anti-infl-ammatory,andantipyreticproperties.Itseliminationhalf-time(3 to 5 hours) isle…     

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.     

CLINICAL SIGNIFICANCE OF SERUM CYTOKINES IL-1β,sIL-2R,IL-6,TNF-α,AND IFN-v IN ACUTE CORONARY SYNDROME

Objectives To explore serum cytokines levels (including IL-1 β, sIL-2R, IL-6, TNF-α, and IFN-v) and their significance in patients with acute coronary syndrome (ACS) and the subsequent follow-ups, with attempt to estimate the role of various serum inflammatory markers in the diagnosis and assessment of ACS.Methods The study population include 40 patients with acute myocardial infarction (AMI), 40 patients with unstable angina pectoris (UAP), and 40 controls. Among the 80 patients, 60 patients attended a follow up 4 months later. Serum inflammatory markers including IL-1 β, sIL-2R, IL-6, TNF-α, and IFN-v were measured by enzyme linked immunosorbent assay.Results Serum IL- 1 β, sIL-2R, IL-6, TNF-α were significantly higher in AMI group or UAP group compared to the control group and became significantly lower 4 months later in the follow-up patients. Serum levels of IFN-v shows no significant difference between AMI group or UAP group and controls, also showing no significant change when measured in follow up patients. There was no correlation between serum creatine kinase-MB isoenzyme levels and serum inflammatory markers either in UAP or AMI group. Furthermore, when divided into two subgroups using Wagner's QRS scoring system in the AMI group, there is no difference of each serum inflammatory marker between ≤ 6 scores group and ＞ 6 scores group.Conclusion Serum levels of certain inflammatory markers may have some diagnostic value for ACS, and can be a useful marker reflecting disease stability.