癫痫患者γ-氨基丁酸B型受体2亚基基因多态性分析

目的 探讨GABBR2基因rs967932多态性与癫痫的关系.方法 PCR-RFLP检测GABBR2基因基因型和等位基因.结果 癫痫组GABBR2基因rS967932 A等位基因频率0.574高于对照组0.442,P＜0.05.结论 GABBR2基因rs967932位点A等位基因可能是癫痫发生的危险因素.     

应用单核苷酸多态性技术筛查2型糖尿病易感基因

目的利用单核苷酸多态性(SNP)标记,在中国北方汉族2型糖尿病相关基因定位区域(1p36.33-p36.23、1q24.3-25.1及1q42.12-42.13)内寻找疾病易感基因位点以及与疾病相关的单倍型.方法通过公共SNP数据库和对样本库全基因测序寻找SNP位点的途径,在定位区域内选择了33个候选基因中的124个SNP位点,用测序法对236例北方汉族散发2型糖尿病患者及152例正常对照个体进行SNP基因分型及病例-对照关联分析,并对具显著性差异的SNP位点进行单倍型分析.结果124个SNP位点中有4个SNP位点的分布频率在病例组和正常对照组存在显著差异(P＜0.05),分别为sAC基因中的rs203849(P=0.005,OR=1.60)和rs203826(P=0.016,OR=1.60),PANK4基因中的rs7535528(P=0.028,OR=1.45)和CASP9基因中的rs884363(P=0.043,OR=1.37).在这4个SNP位点构成的组合型中发现,有2种组合型的频率分布在病例组与对照组之间差异有显著性(P＜0.001).此外,对sAC基因的单倍型分析发现,有4种单倍型与疾病发生相关.结论sAC、PANK4和CASP9基因为中国北方汉族人群2型糖尿病候选易感基因,这3个基因可能在2型糖尿病易感性上有协同作用.     

维吾尔族CD14基因单核苷酸多态性和遗传结构分析

目的 通过检测新疆维吾尔族人群CD14基因全长的序列信息,分析CD14基因的单核昔酸多态性(single nucleotide polymorphisnrs,SNPs)和维吾尔族遗传结构.方法 采用直接测序的方法检测32例健康维吾尔族人CD14基因全长,将测序结果与美国国家生物技术信息中心(NCBI)及国际人类基因组单体型图计划(HapMap)中中国汉族人、日本人、欧洲人及非洲人的SNP进行对比,确定维吾尔族人群CD14基因SNPs的位置、类型和频率.结果 总共有效测序长度约为4000bp,发现了11个SNP位点,这11个位点彼此都处于高度的连锁不平衡.通过11个位点计算出4个主要单倍型,频率最高的是ACAGGGCTGGG,为56.2%.计算出3个频率大于10%的标签SNP(tagSNP).这11个SNP位点里有9个位点在NCBI的dpSNP数据库中已存在,2个是新发现的低频SNP,其中rs2569192和rs4914在维吾尔族人的分布与中国汉族人、日本人、欧洲人、非洲人明显不同,差异有显著性(P＜0.01).rs569190和rs2569191在维吾尔族人分布与其他种族人的差异有显著性(P＜0.05).结论 中国维吾尔族人群CD14基因的SNPs分布和遗传结构有别于其他人种,在后续研究中应参考维吾尔族人自己的测序数据.该研究为CD14基因与疾病关联研究候选SNPs的选择提供了科学依据.     

5种单核苷酸多态性与厦门地区汉族人群类风湿关节炎易感性的关系

目的 探讨5种单核苷酸多态性(SNP)与汉族人群类风湿关节炎(RA)易感性的关系.方法 收集91例RA患者和100例健康人血液标本,利用基因测序法检测rs2230926、rs7574865、rs3761847、rs2228145和rs2234067等5种SNPs,同时用ELISA法检测RA患者的血清抗CCP.分为RA组和对照组进行病例对照研究.结果 (1)5种SNP在对照组和RA组中的分布均符合Hardy-Weinberg平衡(P＞0.05).rs3761847和rs2228145的不同等住基因频率与RA的易感性显著相关[OR(95％ CI)分别为1.61(1.07 ～2.41)、0.64(0.42 ～0.97),P＜0.05],rs7574865、rs2234067及rs2230926与RA的易感性未见显著相关(P＞0.05).(2) rs2228145与RA患者血清抗CCP反应性显著相关(P =0.014 9),其C等位基因频率在两组中的差异有统计学意义(P＜0.05);而rs2228145及rs3761847与RA患者血清RF反应性、rs3761847与RA患者血清抗CCP反应性均无显著相关(P＞0.05).结论 厦门地区汉族人rs3761847和rs2228145基因多态性可能与RA的易感性存在关联,而rs7574865、rs2234067及rs2230926则与RA的易感性可能无关.     

中国广西人群miRNA 17 92基因簇启动子区rs1491034和rs982873遗传多态性研究

目的 研究rs1491034和rs982873单核苷酸多态性(SNPs)在广西人群中的分布特点,比较二者基因型和等位基因在不同种族、地区人群间的分布差别. 方法 采用SNaPshot SNP分型技术和DNA测序法检测397例广西人群rs1491034和rs982873 SNPs,比较两位点基因型和等位基因频率与国际人类基因组单体型图(HapMap)计划公布的不同种族和地区人群间的差别. 结果 广西人群rs1491034和rs982873均存在TT,CT及CC 3种基因型.2个位点的基因型和等位基因频率在广西人群不同性别间比较,差别均无统计学意义(P＞0.05).广西人群rs1491034基因型和等位基因频率与HapMap-CEU和HapMap-YRI人群比较,差别均有统计学意义(P＜0.01),而rs982873基因型和等位基因频率与HapMap-JPT和HapMap-YRI人群比较,差别均有统计学意义(P＜0.05),但两位点基因型和等位基因频率与其他人群比较,差别均无统计学意义(P＞0.05). 结论 广西人群存在rs1491034和rs982873多态性,与其他种族、地区人群比较存在不同程度的差别.     

KLKB1基因多态性与肺血栓栓塞症的相关性

目的 研究KLKB1基因单核苷酸多态性(SNPs)与肺动脉栓塞症(PTE)的关联。方法 以确诊的95例PTE患者为PTE病例组,以90名健康体检者为对照组,采用χ2检验、Logistic回归分析对SNP位点的基因型频率、等位基因和单倍体型进行相关性分析,并在加性、显性和隐性3种遗传模型下对各SNP位点进行相关性分析。结果 rs3733402位点的基因型频率在PTE病例组和健康对照组间的分布差异有统计学意义(P=0.041),KLKB1基因区域rs2292423、rs4253325和rs3733402 3个位点组成的GTG单倍型分布在PTE组和健康对照组间差异有统计学意义(P=0.040)。结论 汉族人群KLKB1基因区域中的rs3733402位点与PTE的遗传易感性相关。     

色胺酸羟化酶2基因rs11178997多态性与汉族人群单相抑郁及自杀行为的关联性分析

目的 探讨色氨酸羟化酶2(TPH2)基因rs11178997单核苷酸多态性与单相抑郁症及自杀行为的关系.方法 提取中国北方地区汉族300例单相抑郁患者和300例健康对照者基因组DNA,采用TaqMan探针SNP基因分型技术测定包含TPH2基因rs11178997位点的基因组DNA片段,来检测病例组及对照组的基因型的多态分布.应用SPSS 17.0分析基因多态性与单相抑郁症及自杀行为的关联性.结果 病例组与对照组SNPs基因型分布符合Hardy-Weinberg平衡定律(P＞0.05);单相抑郁患者TPH2rs11178997基因型A/A、G/G、A/G的频率分别为75.7％ (227/300)、6.0％ (18/300)、18.3％(55/300),而健康对照者的频率分别为39.7％(119/300)、56.3％(169/300)、1.3％(4/300),单相抑郁患者和健康对照者TPH2 rs11178997基因型和等位基因频率的差别有统计学意义(P＜0.05),且病例组中携带rs11178997位点AA基因型的个体数高于正常对照组;病例组内有、无自杀行为的个体携带基因型A/A、G/G、A/G的频率及rs11178997位点等位基因T、G频率两组间差异比较无统计学意义(P＞0.05).结论 TPH2基因rs11178997单核苷酸多态性与单相抑郁症有明显关联.     

ZNF804A基因外显子4区域单核苷酸多态性在中国汉族精神分裂症患者核心家系中的传递不平衡检验

目的 研究ZNF804A基因外显子4区域中的单核苷酸多态性位点(SNPs)和精神分裂症的相关性.方法 在69个中国汉族精神分裂症患者的核心家系中,采用MassARRAY等位基因分型技术对位于ZNF804A基因外显子4的7个SNPs以及2个侧翼的遗传标记进行基因分型和传递不平衡检验(TDT).结果 (1)存在4个罕见(少数等位基因频率＜1％)的SNPs(rs79776875、rs78816540、rs79082132和rs62198467),因其不符合分析要求,予以排除.(2)对其余5个SNPs( rs4667000、rs61739290、rs61739288、rs1366842、rs3731834)的分析表明,遗传标记rs3731834的传递不平衡结果具有统计学意义(P＜0.05).(3)在连锁不平衡分析中,对5个SNPs构建的单倍型分析显示其传递差异具有统计学意义(整体P＜0.05).结论 ZNF804A基因外显子4区域的SNPs与中国汉族人群精神分裂症的遗传易感性相关.     

FCGR2A基因多态性与汉族人系统性红斑狼疮易感性关联分析

目的 研究FCGR2A基因多态性与汉族人系统性红斑狼疮(SLE)易感性的相关性.方法 利用Illumina 610-Quad芯片在590例SLE患者和1 135例正常对照中进行全基因组关联分析,选取芯片上覆盖FCGR2A基因的单核苷酸多态性(SNP)分型数据,用Plink 1.03软件进行统计分析.结果 FCGR2A基因上分型成功的5个SNPs(rs1801274、rs4657039、rs6696854、rs10800309和rs511278)等位基因频率在病例组和对照组之间的差异无统计学意义(P>0.05).结论 FCGR2A基因多态性可能与汉族人SLE易感性无关联.     

突触小体相关蛋白-25基因多态性与精神分裂症相关研究

目的 研究突触小体相关蛋白-25(SNAP-25)基因3端翻译区单核苷酸多态性(SNP)位点rs8636与精神分裂症的关系.方法 采用聚合酶连反应-限制性片段长度多态性技术,检测300例精神分裂症患者(患者组)和300例正常对照(对照组)的基因型及基因频率.分析SNAP-25基因多态性与精神分裂症的相关性.结果 ①患者组与对照组rs8636多态性位点的等位基因和基因型的频数分布均符合Hardy-Weinberg平衡检验(X~2=2.69,v=1,P＞0.05;X~2=2.52,v=1,P＞0.05).②患者组与对照组SNAP-25基因rs8636多态性位点的基因型和等位基因频率的总体分布差异有统计学意义(X~2=6.454,P＜0.05;X~2=7.033,P＜0.05);③患者组C/C基因型频率(65.0%)和C等位基因频率(79.7%)高于对照组,差异有统计学意义(X~2=5.848,P＜0.05;OR=1.50);患者组T/T基因型频率(5.7%)略低于对照组,差异无统计学意义(X~2=2.453,P＞0.05).结论 SNAP-25基因rs8636多态性位点与精神分裂症可能存在关联.C/C基因型和C等位基因可能是精神分裂症发病的危险因素.     

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…     

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.     

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     

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.     

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.     

Acupuncture Combined with Spinal Tui Na for Treatment of Primary Dysmenorrhea in 30 Cases

Objective: To observe the therapeutic effects in acupunture treatment of primary dysmenorrhea combined with spinal Tui Na, and study its mechanism. Methods: Thirty cases of the treatment group were treated by acupuncture combined with spinal Tui Na, and thirty cases in the control group were treated by routine acupuncture. Results: The total effective rate was 93.3% in the treatment group, and 73.3% in the control group, with a significant difference between the two groups (P<0.05). Conclusions: Acupuncture combined with spinal Tui Na has good prospects for treatment of primary dysmenorrhea.     

Luo Lingjie's Experience in Treating Chronic Nephropathy

In treating chronic nephropathy,Luo Lingjie,a chief physician,pays attention to regulating the balance between yin and yang,treating infection if present,and removing pathogenic factors.He prescribes gentle drugs and uses carefully strongly warming-tonifying ones,emphasizes the importance of persuading the patient to persist in treatment with medication and nurse one's health for recuperation,and is good at combined use of TCM and western medicine therapy and brings the merits of various therapies into full play,with obvious theraoeutic effects.