恩施土家族人群eNOS rs1799983基因多态性和肥胖在原发性高血压中的交互作用

目的 探讨恩施土家族人群内皮型一氧化氮合酶(eNOS)rs1799983多态性与原发性高血压(EH)关联性及其与肥胖交互作用。方法 采用多聚酶链反应-限制性片段长度多态性(PCR-RFLP)方法分析127例EH患者和127名正常对照eNOS rs1799983基因型。非条件Logistic分析各基因型与发病中易感性关系以及与肥胖的交互作用。结果 携带C(CC/CT)基因个体患病风险较非C基因携带者(TT)风险明显增加1.35倍(OR=1.35,95%CI: 1.22,2.56,P<0.01;校正OR=1.61,95%CI: 1.21,3.01,P<0.01);非条件Logistic分析表明携带CC/CT基因型肥胖个体EH罹患风险是携带TT基因非肥胖个体的3.39倍(OR=3.39,95%CI:2.66,5.36,P=0.000)(RERI=1.94,95%CI:1.41,2.77;API=0.59,95%CI:0.33,0.84;S=1.46,95%CI:1.37,2.66)。结论 eNOS rs1799983多态性增加恩施土家族个体原发性高血压罹患风险,且与肥胖存在原发性高血压发病中存在协同效应。     

武汉汉族人群rs1799983基因多态性和肥胖在冠心病中交互作用研究

目的探讨武汉汉族人群rs1799983多态性与冠心病关联性及其与肥胖交互作用。方法选取2014年2月~2015年8月于武汉市第五医院心血管科住院CHD患者120例作为实验组,同时选取体检中心健康汉族个体140例作为对照组,均为武汉籍汉族。采用多聚酶链反应-限制性片段长度多态性(PCR-RFLP)方法分析120例CHD患者(实验组)和140名正常对照rs1799983基因型(对照组)。非条件Logistic分析各基因型与发病中易感性关系以及与肥胖的交互作用。结果携带C(CC/CT)基因个体患病风险较非C基因携带者(TT)风险明显增加1.55倍(OR=1.55,95%CI:1.41~3.71,P0.001;校正OR=1.79,95%CI:1.51~4.01,P0.001);非条件Logistic分析表明携带CC/CT基因型肥胖个体CHD罹患风险是携带TT基因非肥胖个体的3.88倍(OR=3.88,95%CI:2.72~5.76,P0.001);RERI=2.51,95%CI:1.22~3.80;AI=0.54,95%CI:0.34~0.74;S=1.56,95%CI:1.12~2.83。结论 e NOS rs1799983多态性增加武汉汉族个体CHD罹患风险,且与肥胖存在CHD发病中存在协同效应。     

血管内皮生长因子基因SNPrs3025039多态性与2型糖尿病相关性的研究

目的探讨T2DM患者血管内皮生长因子(VEGF)基因SNPrs3025039多态性。方法运用PCR-RFLP检测170例T2DM患者(T2DM组)和100名健康体检者(NC组)的VEGF基因SNPrs3025039多态性。结果 (1)两组的基因型和等位基因频率差异无统计学意义(P>0.05),但糖尿病慢性肾脏疾病(CKD)组CT、TT基因型频率和T等位基因频率高于糖尿病非CKD(NCKD)组(P<0.05);CC基因型和C等位基因频率低于NCKD组(P<0.05);(2)T2DM组BMI、SBP、DBP、HbA1c、FPG、2hPG、TG水平高于NC组(P<0.01),HDL-C水平较NC组降低(P<0.01)。结合FPG、TG、TC、LDL-C及HDL-C进行多重Logistic回归分析显示,CT和TT基因型与CKD的发生呈正相关(OR=2.75,P<0.05)。结论 T2DM患者VEGF基因SNPrs3025039多态性与正常人群比较差异无统计学意义,但CT、TT基因型与CKD的发病风险有关。     

青岛地区汉族人群190例NAFLD患者IL28B基因rs12979860及rs8099917多态性研究

目的探讨青岛地区汉族人群IL28B基因rs12979860、rs8099917多态性与NAFLD的相关性。方法收集190例青岛地区汉族NAFLD患者和183例正常人的血液标本,采用多重高温连接酶检测反应技术(i MLDR)进行IL28B的基因分型。计数资料比较进行χ2检验,计量资料进行t检验,非条件Logistic回归模型计算比值比(OR)及其95%可信区间(CI)。结果 IL28B基因rs12979860、rs8099917位点基因型及等位基因在NAFLD组与对照组中的分布频率差异无统计学意义(P0.05)。相对于野生型rs12979860 CC型、rs8099917 TT型,含突变位点基因型未增加NAFLD的发病风险,经多变量Logistic回归分析计算后,含等位基因rs12979860 T、rs8099917 G的基因型携带者发生NAFLD的比值比(OR及95%CI)分别为0.958(95%CI:0.517~1.776,P=0.892)及0.959(95%CI:0.490~1.876,P=0.903)。结论在青岛地区汉族人群中,IL28B基因rs12979860、rs8099917两位点基因多态性与NAFLD的发生无明显相关性。     

PSCA rs2294008基因多态性与胃癌癌前病变的相关性研究

背景:胃癌在病因学上是幽门螺杆菌(Hp)感染、环境因素和宿主遗传因素之间相互作用的结果。既往研究显示前列腺干细胞抗原(PSCA)基因rs2294008位点多态性与非贲门部胃癌风险增加显著相关。目的:探讨PSCA rs2294008位点多态性与胃癌癌前病变的关系。方法:收集2009年11月—2015年11月青岛市市立医院398例胃癌癌前病变患者(肠上皮化生328例,上皮内瘤变70例),同期416例健康体检者作为对照组。采用PCR直接测序法检测PSCA rs2294008位点基因型,快速尿素酶试验检测Hp感染状态。结果:病例组PSCA rs2294008位点CC、CT、TT基因型分布与对照组相比差异有统计学意义(P=0.011),病例组TT基因型频率显著高于对照组(16.3%对9.4%,P=0.003)。与CC基因型携带者相比,TT基因型携带者胃癌癌前病变风险显著增加(OR=1.840,95%CI:1.174~2.886)。以Hp阴性且携带CC+CT基因型者为参照,单独携带TT基因型仅轻微增加胃癌癌前病变风险(OR=1.783,95%CI:0.900~3.530),而单独Hp感染(OR=2.389,95%CI:1.799~3.173)和Hp感染且携带TT基因型(OR=3.335,95%CI:1.935~5.749)可使发病风险显著增加,后者作用更为显著。结论:PSCA rs2294008位点多态性与胃癌癌前病变易感性显著相关,Hp感染可进一步增加TT基因型携带者的发病风险。     

冠状动脉粥样硬化性心脏病侧支循环形成与VEGF-A基因多态性相关性研究

目的研究冠状动脉粥样硬化性心脏病(冠心病,CAD)侧支循环形成与VEGF-A基因多态性相关性。方法选取长沙市第一医院心血管内科于2015年10月～2017年8月收治的冠心病住院患者200例为研究对象,采用rentrop分级法评价患者侧支循环情况,包括0级、1级、2级及3级,其中将0级作为无侧支循环组,1～3级作为有侧支循环组,统计并比较所有患者的临床资料、血糖和血脂水平;同时,抽取外周静脉血4 ml,提取外周血DNA,对血管内皮生长因子A(VEGF-A)基因3个多肽位点的PCR直接测序检测,分析VEGF-A基因多态性与CAD患者侧支循环形成的相关性。结果有侧支循环组的VEGF-A基因rs2010963位点及rs1570360位点的GG基因型比例和G基因频率均明显高于无侧支循环组,差异均有统计学意义(P0.05),rs699947位点的CC基因型比例和C基因频率明显高于无侧支循环组,差异均有统计学意义(P0.05),rs3025039位点和rs833061位点的TT基因型比例和T基因频率均明显高于无侧支循环组,差异均有统计学意义(P0.05)。结论 CAD患者的VEGF-A基因多态性与侧支循环形成有关,VEGF-A基因rs2010963和rs1570360位点中G等位基因,rs699947位点中C等位基因,rs3025039和rs833061位点中T等位基因,可能是CAD患者侧支循环形成的促进因素。     

MTTP基因rs1800591位点多态性与非酒精性脂肪性肝病的相关性研究

目的研究微粒体甘油三酸酯转移蛋白(MTTP)基因rs1800591位点多态性与非酒精性脂肪性肝病(NAFLD)的关系。方法采用聚合酶链式反应(PCR)-限制性片段长度多态性检测219例NAFLD患者和210例正常对照组MTTP基因rs1800591位点基因型和等位基因。应用方差分析、卡方检验、非条件Logistic回归分析等方法判断NAFLD患者与正常对照组的各项指标。结果 NAFLD组与对照组两者rs1800591位点的基因型分布和等位基因频率差异有统计学意义(χ2=9.007,P=0.011;χ2=9.599,P=0.002)。经混杂因素校正后,非条件Logistic回归分析结果显示,与TT基因型相比,GG+GT基因型发生NAFLD的风险比值比:OR=1.623,95%CI为1.070~1.648,P=0.030。等位基因G携带者患NAFLD的风险是T等位基因的1.521倍(OR=1.521,95%CI为1.089~2.123,P=0.014)。TT基因型与GG+GT组ALT、LDL、TG的差异有统计学意义(ALT:P=0.001;LDL:P=0.008;TG:P=0.024)。结论青岛地区汉族人群中MTTP基因rs1800591位点多态性与患NAFLD的风险有相关性。     

TAGLN2基因单核苷酸多态性与广西扶绥县肝癌高发家系遗传易感性的关系

目的探讨TAGLN2基因rs2252815和rs2789422位点单核苷酸多态性与广西扶绥县原发性肝细胞癌(以下简称"肝癌")高发家系遗传易感性的关系。方法选取广西扶绥县20个肝癌高发家系成员共79例,将其中肝癌患者20例设为肝癌高发家系肝癌组,将无肝癌的直系亲属成员59例设为肝癌高发家系非肝癌组;将10个正常对照家系的成员40例设为正常家系对照组。采用飞行时间质谱技术检测TAGLN2基因rs2252815和rs2789422位点的基因型和等位基因频率;采用非条件Logistic回归分析三组人群等位基因及基因型分布频率的差异。结果 TAGLN2基因rs2252815位点存在CC、CT和TT三种基因型,其中CC基因型19例、CT基因型47例、TT基因型51例(2例未检测出相应基因型); rs2789422位点存在CC、CT和TT三种基因型,其中CC基因型72例、CT基因型43例、TT基因型3例(1例未检测出相应基因型)。肝癌高发家系肝癌组与肝癌高发家系非肝癌组或正常家系对照组进行比较,TAGLN2基因rs2252815和rs2789422位点CC、CT、TT基因型及等位基因C、T分布频率比较差异均无统计学意义(P 0. 05)。结论 TAGLN2基因rs2252815和rs2789422位点单核苷酸多态性与广西扶绥县肝癌家系遗传易感性之间无明显相关性。     

脂蛋白脂酶基因多态性与中青年原发性高血压的相关性研究

目的:探讨中国中青年汉族人群中脂蛋白脂酶(LPL)单核苷酸基因多态性(SNP)与原发性高血压(EH)易感性的关系。方法:根据一定的纳入和排除标准筛选高血压患者及健康体检人群,收集临床资料,采集血液标本,采用TaqMan-MGB法检测LPL基因rs253和rs328位点多态性,分析基因多态性与中青年原发性高血压发病率的相关性。结果:病例组入选499例,对照组入选336例,两组之间性别、年龄、吸烟比例、血肌酐水平差异无统计学意义,饮酒、家族史、血压、血糖等指标有统计学差异。不同基因型在病例组与对照组的分布:rs253位点CC、CT、TT基因型分布有统计学差异(P=0.044),rs328位点等位基因G、C分布频率有统计学差异(P0.001)。将总体按BMI是否25 kg/m~2和是否有血脂异常分层并进行多种基因模型分析,结果显示在中青年肥胖人群(BMI≥25 kg/m~2)中,rs253位点隐性模型CC vs CT+TT中基因型频率分布有统计学差异(P=0.002);在血脂异常的人群中,rs253位点隐性模型CC vs CT+TT基因型频率分布有统计学差异(P=0.020)。Logistic回归分析校正性别、年龄、吸烟、饮酒、家族史、BMI、血脂等多个混杂因素后,结果依然显示,在中青年肥胖人群中,rs253位点隐性模型与高血压发病风险显著相关(P=0.017,OR=0.598,95%CI:0.393～0.912);在有血脂异常的人群中,该模型亦与高血压发病风险相关(P=0.037,OR=0.652,95%CI:0.436～0.975)。结论:在国内中青年汉族肥胖人群以及有血脂异常的人群中,LPL基因rs253位点多态性可能与EH发生相关,该位点CC基因型较CT和TT发病风险明显降低;rs328位点则未见与EH明显相关性。     

TSPAN8基因多态性与广西扶绥县肝癌家系遗传易感性关系研究

目的探讨广西扶绥县肝癌高发家系TSPAN8基因单核苷酸多态性(SNP)与肝癌遗传易感性的关系。方法收集广西扶绥县肝癌高发区20个肝癌高发家系(肝癌患者20例及直系亲属59例)及10个正常对照家系(共40例)作为研究对象,运用飞行时间质谱分析技术(MALDI-TOF)检测TSPAN8基因rs2270587位点基因型,分析该基因位点多态性与肝癌家系遗传易感性的关系。结果 (1)TSPAN8基因rs2270587位点存在C、T两种等位基因型及CC、CT和TT三种基因型。(2)正常家系组及肝癌家系非患者组CT基因型个体罹患HCC的风险分别是CC基因型个体的0.34倍(95%CI=0.07~1.59,P0.05)和0.42倍(95%CI=0.11~1.66,P0.05);正常家系组中T等位基因个体罹患HCC的风险是C等位基因个体的0.29倍(95%CI=0.09~0.92,P=0.028),肝癌家系非患者组中T等位基因个体罹患HCC的风险是C等位基因个体的0.46倍(95%CI=0.15~1.42,P0.05)。结论 TSPAN8基因rs2270587位点多态性与广西肝癌遗传易感性有相关性,T等位基因型可能是广西扶绥县HCC发生的保护因素。     

肿瘤病人弓形虫感染分析

在肿瘤的发生和发展进程中 ,多伴有免疫功能低下或缺陷 ,从而极易遭受各种感染。弓形虫是机会感染因子 ,当患者免疫功能受损时 ,易于感染 ,还会使隐性感染激活 ,引起低热不退、淋巴结肿和脑神经系统的反应 ,此现象尚未引起临床医师的重视。近年来 ,我们对 4 0 9例肿瘤病人进行了弓形虫感染及弓形虫病的分析观察 ,报告如下 :1　材料与方法1 1　材料　 30 4例病人血清取自江西省肿瘤医院住院或门诊病人 ,随机抽样后低温保存待检 ,10 5例取自其他医院送检样品 ,有急性症状者随到随检 ,以便及时做病原学检测。1 2　弓形虫病诊断方法1 2 1　免疫…     

A patient with rectal ulcer with severe stenosis presenting with perforated peritonitis

We report a patient with rectal ulcer with severe stenosis, who underwent urgent surgical treatment for perforated peritonitis. The 54-year-old man suddenly developed cramping abdominal pain and fever while hospitalized, with signs of peritoneal irritation. An emergency laparotomy was performed, and severe stenosis of the rectum and a perforated lesion on the oral side approximately 10 cm distant from the stenosis were found, with massive abdominal purulent fluid. He was treated by rectosigmoid colon resection with transverse colon loop colostomy. Histopathologically, the stenosis was caused by ulceration extending to all muscular layers of the rectum, with inflammatory changes. Benign rectal stenosis is so rare that differential diagnosis from malignancy may be difficult when there are inflammatory changes in the surrounding tissues. However, it is necessary to keep in mind the likelihood of this disease in differentiation from rectal cancer. Received: December 21, 1998 / Accepted: May 28, 1999     

Infection with Rhodococcus equi in a patient with sarcoidosis treated with corticosteroids

A 51-year-old female farmer was diagnosed as having sarcoidosis. During 4 years of observation, slow radiological progression was observed. Cough then developed, necessitating treatment with corticosteroids. After 28 months of continuous treatment with prednisolone in low doses (5-7.5 mg daily), she suffered fever episodes, recurrent haemoptyses, general malaise and loss of weight. A chest roentgenogram showed a left upper lobe infiltrate, which progressed and finally cavitated, and rib destruction. Despite efforts, including a thoracotomy, 22 months passed before a diagnosis could be made. Blood and sputum cultures and cultures from the destroyed rib showed growth of Rhodococcus equi, a common soil organism which can cause infections in foals and other animals. Treatment with rifampicin and erythromycin was successful. R. equi has been reported to cause infection in patients with neoplastic disease and/or immunosuppression, but the disease might be more common than is suggested by the sparse case reports in the literature, owing to lack of familiarity with the organism, which will tend to be overlooked as a contaminant.     

Evaluation of atrial vulnerability with transoesophageal stimulation in patients with atrioventricular junctional: Comparison with patients with ventricular pre-excitation and with normal subjects

The aim of our work was to evaluate the inducibility of atrialfibrillation in a group of patients with atrioventricular junctionalreentrant tachycardia and to compare it with that of patientswith a Kent-type ventricular pre-excitation (Wolff-Parkinson-Whitesyndrome) and a control group. One hundred and twenty-five subjects were separated into groups.Group 1 comprised 49 Wolff-Parkinson-White patients, with amean age of 26.4, range 10.66 years; group 2, 51 patients withatrioventricular junctional reentrant tachycardia inducibleby transoesophageal atrial stimulation andlor clinically documented,with a mean age of 43.4, range 16–78 years; group 3, 25control subjects with a mean age of2.64, range 13–76 years. Each subject underwent atrial transoesophageal stimulation withthe following protocol: programmed atrial stimulation with 1and 2 stimuli during atrial pacing of 100. min^–1 and 150.min^–1; atrial stimulation for 10 s at a rate of 200–300–400–500–600.min^–1 with intervals of 10 s between stimulations, fivesuccessive ‘ramp-up’ atrial stimulations for 9 swith the rate increasing from 100 to 800. min^–1 with intervalsof 10 s between stimulations. The end point was the completionof the protocol or induction of sustained atrial fibrillation(>1 min). The chi-square test was used for statistical analysis. Our resultsshowed that in group 1 atrial fibrillation was induced in 27149patients (55.1%); this was sustained in 13149 (26.5%) and non-sustainedin 14149 (28.5%); in group 2, atrial fibrillation was inducedin 22151 patients (43.0%); it was sustained in 7151 (13.7%)and non-sustained in 15151 (29.4%); in group 3, sustained atrialfibrillation was not induced in any subject and in only onesubject was a non-sustained atrial fibrillation (4 s) induced. The chi-square test showed that group 2 vs group 1 were non-significant,while group 2 vs group 3 and group 1 vs group 3 were significant(P<0.003 and P<0.0007, respectively). Therefore group 2 patients showed a greater atrial vulnerabilityin comparison to the control subjects and a similar vulnerabilityto group 1 patients. It is possible that the greater atrialvulnerability in the patients of group 2 was due to the doublenodal pathway.     

Treating patients with lupus with B-cell depletion

A new era in the treatment of systemic lupus erythematosus has dawned with the increasing introduction of monoclonal antibodies and other approaches, that target the key molecules involved in the pathogenesis of the disease. At present the ability to block the CD20 molecule on those B cells that carry this marker has proved the most effective way to treat patients resistant to conventional immunosuppressive drugs. However, these studies have all been open label and the results of double blind controlled studies are eagerly awaited.