S100B基因rs881827多态性与缺血性脑卒中的遗传易感性研究

目的探讨星形胶质源性蛋白(S100B)基因单核苷酸多态性(SNP)rs881827与缺血性脑卒中(IS)的相关性。方法采用单碱基延伸的PCR技术(SBE-PCR)和DNA测序法对396例IS患者(病例组)及398例体检者(对照组)的S100B基因rs881827位点进行基因分型;用非条件Logistic回归计算比值比(OR)、95%置信区间(95%CI)、显性模型(TT/CT vs.CC)、隐性模型(CT/CC vs.TT)和超显性模型(CC/TT vs.CT),从而分析rs881827多态性与IS的发病风险。结果两组间基因型和不同遗传模型比较结果显示,rs881827位点SNP可能与IS的遗传易感性无关(CT vs.TT:OR=0.79,95%CI 0.54~1.15,P=0.22;TT vs.CC:OR=0.65,95%CI 0.38~1.09,P=0.10;TT/CT vs.CC:OR=0.75,95%CI0.53~1.07,P=0.12;CT/CC vs.TT:OR=0.74,95%CI 0.46~1.19,P=0.22;CC/TT vs.CT:OR=0.90,95%CI 0.64~1.26,P=0.53)。结论 S100B基因rs881827位点SNP可能与IS的遗传易感性无关。     

长链非编码RNA H19基因多态性与早发冠心病患者易感性研究

目的:探讨编码一段长链非编码RNA的 H19基因多态性与早发冠心病(pCAD)患者易感性的相关关系?方法:采用TaqMan技术分析 213 例早发冠心病患者和 776 例对照的H19基因 4个多态位点(rs2067051?rs2251375?rs217727?rs4929984)的基因型,用 SPSS 软件进行统计学分析?结果:早发冠心病组H19基因rs217727位点的CT基因型?TT基因型及T等位基因分布频率均高于对照组?多元Logistic回归分析显示:rs217727多态性与早发冠心病发病独立相关(P < 0.01)?T等位基因携带者?TT纯合基因患早发冠心病的风险分别是CC纯合基因型的2.42倍(OR=2.42,95%CI=1.55~3.71)和3.01倍(OR=3.01,95%CI=1.87~4.85)?结论:H19 rs217727多态性与早发冠心病易感性有关,T等位基因可能是早发冠心病的遗传易感因素?     

XPC､XPD､XPG 基因多态与膀胱癌及其病理参数的相关性研究

目的:探讨 XPC(rs2228000?rs2228001?rs2470352)?XPD(rs13181)?XPG(rs17655)3个基因的5个多态性位点的基因型与膀胱癌及其病理参数的相关性?方法:采用病例对照研究,采用Massarray SNP检测技术对287 例膀胱癌患者和 282例正常人XPC?XPD?XPG基因的5个基因多态性位点的基因型分布进行分析?采用Logistic回归模型分析各基因型与膀胱癌发病的关系并比较不同基因型与膀胱癌及其病理参数的关系?结果:XPC rs2228000位点在病例及对照组中分布有显著性差异(χ2 = 21.949,P < 0.001),其中CT及TT基因型在病例组中的频率显著高于对照组,差异有统计学意义(CT vs CC:OR = 2.01,95% CI 1.41~2.88;TT vs CC:OR=3.06,95%CI 1.70~5.49);T等位基因携带者在病例组中的分布频率亦高于对照组,差异有统计学意义(CT/TT vs CC:OR=2.16,95%CI 1.58~3.11)?rs17655?rs2228000及rs2228001位点的基因型分布频率在不同分化程度的肿瘤中差异有统计学意义(rs17655:χ2 = 10.013,P = 0.040;rs2228000:χ2 = 13.836,P = 0.008;rs2228001:χ2 = 14.315,P = 0.006),rs2228000位点的基因型分布频率与远端转移差异有统计学意义(rs2228000:χ2 = 12.204,P = 0.002)?结论:XPC rs2228000位点与膀胱癌的发病相关,含T等位基因个体膀胱癌的相对风险高,且与膀胱癌的肿瘤分化程度及淋巴结远端转移相关?rs2228001及XPG rs17655位点的基因多态性与肿瘤的分化程度相关?     

Hedgehog信号通路基因启动子区多态性与广西地区人群肝细胞癌易感性的关系

目的:探讨Hedgehog(Hh)信号通路基因启动子区多态性与广西地区人群肝细胞癌遗传易感性的关系?方法:采用以医院为基础的病例对照研究,以1 041例肝细胞癌患者和1 074例非肿瘤对照者为研究对象,应用Sequenom Mass Array基因分型技术检测Hh信号通路基因启动子区的9个潜在功能性多态性位点的基因型,并分析各多态性位点与肝细胞癌易感性的关系?结果:在调整年龄?性别?吸烟?饮酒以及HBV感染等因素后,携带STK36 基因rs34237608 AG基因型者罹患肝细胞癌的风险降低(OR=0.67,95%CI=0.47~0.95;P=0.025);GG基因型与肝细胞癌易感性之间的关系无统计学意义(P > 0.05);在显性模型下,rs34237608位点AG/GG基因型可降低罹患肝细胞癌的风险(OR=0.67,95%CI=0.48~0.95;P=0.025)?本研究未发现其他候选位点多态性与肝细胞癌易感性有统计学意义?结论:STK36 基因rs34237608位点多态性可能与广西人群肝细胞癌易感性有关联?     

miR-499、miR-196a2、miR-149单核苷酸多态性与系统性红斑狼疮的关联性

目的探讨系统性红斑狼疮(systemic lupus erythematosus,SLE)患者与miR-499、miR-196a2及miR-149单核苷酸多态性(single nucleotide polymorphism,SNP)的关联性。方法选取111例SLE患者(SLE组)与120例健康者(对照组)为研究对象,收集临床资料并抽取2mL外周静脉血,提取基因组DNA。利用PCR-RFLP技术对研究对象miR-499rs22928323、miR-196a2rs11614913、miR-149rs3746444的单核苷酸多态性进行检测,分析SLE与SNP的关联性。结果 miR-196a2rs11614913表现为TT、TC、CC 3种基因型,与miR-196a2基因型TT+TC相比,基因型为CC的患者发病风险增加,OR=1.28,95%CI为1.03~1.84,P=0.017;miR-149rs22928323表现为TT、TC、CC 3种基因型,与miR-149基因型TT+TC相比,基因型为CC的患者发病风险不增加,OR=0.61,95%CI为0.38~1.38,P=0.283;miR-499rs3746444表现为AA、AG、GG 3种基因型,与miR-449基因型AA+AG相比,基因型为GG的患者发病风险不增加,OR=0.78,95%CI为0.58~1.11,P=0.188。结论miR-196a2内的SNP rs11614913与中国华东地区人群SLE的遗传易感性有关;miR-499、miR-149内的SNPs rs3746444、rs22928323与中国华东地区人群SLE的遗传易感性无关。     

生长激素受体基因多态性与特发性矮小遗传易感性的关系

目的探讨人生长激素受体(GHR)基因的单核苷酸多态性(SNP)与中国汉族人群特发性矮小(ISS)遗传易感性的关系。方法采用病例对照法,在199例ISS患儿(ISS组)和469名身高正常成人(对照组)中,对GHR基因16个SNP位点进行基因分型和比较,筛查阳性SNP位点(特异基因型频率差异有统计学意义),分析阳性SNP位点基因型与ISS发病风险及血清胰岛素样生长因子1(IGF-1)等相关临床变量的关系。结果在ISS组和对照组中,发现3个阳性SNP位点rs6182(P=0.027)、rs4410646(P=0.01)和rs10044169(P=0.024)。①rs6182(G/T):在T显性模式下,TT和GT基因型的ISS发病风险降低(OR=0.624,95%CI:0.402~0.969,P=0.021)。②rs4410646(A/C):在C显性模式下AA基因型的ISS发病风险降低(OR=0.674,95%CI:0.475~0.958,P=0.016);该位点的多因素Logistics回归分析显示,以CC基因型为参照,血清IGF-1与基因型AA(OR=1.011,95%CI:1.002~1.020,P=0.018...     

中国汉族人群Semaphorin 5A基因多态性与帕金森病易感性的关联研究

目的 探讨Semaphorin 5A(SEMA5A)基因多态性与帕金森病(PD)易感性的关系.方法 选择244例帕金森病患者和174名正常对照,利用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)方法检测中国汉族人群中SEMA5A基因的两个基因多态性位点(SNP)和帕金森病易感性的关系,并用基因测序验证结果.结果 SEMA5A基因的多态性位点rs7702187和rs3798097(rs7702187:OR(基因型AT)=0.95,95%CI 0.61～1.48,OR(基因型AA)=1.84,95% CI 0.85～3.99,OR(基因型AT+AA)=1.21,95%CI 0.82～1.77,P>0.05;rs3798097:OR(基因型CT)=1.06,95% CI 0.62～1.79,OR(基因型TT)=0.72,95% CI 0.10～5.18,OR(基因型CT+TT)=1.01,95%CI 0.62～1.67,P>0.05)与PD易感性之间无关联性;与最常见的单倍型TC相比,AC单倍型,TT单倍型均与PD易感性无关(AC单倍型:OR=1.19,95%CI 0.84～1.69,P>0.05;TT单倍型:OR=0.99,95% CI 0.59～1.70,P>0.05).结论 中国汉族人群中,SEMA5A基因与PD发病无相关性.     

红细胞补体受体1分子水平及其基因单核苷酸多态性与系统性红斑狼疮的关联研究

目的我国系统性红斑狼疮(systemic lupus erythematosus,SLE)发病率居世界首位,治疗属世界难题。SLE的发病机制尚不明确,许多研究表明,SLE患者红细胞补体受体1(complement receptor type 1,CR1)分子水平及功能低下,但未见研究对CR1基因与SLE遗传易感性的关联进行报道。文中旨在探讨红细胞CR1分子水平及其基因单核苷酸多态性(singlenucleotide polymorphisms,SNP)与SLE的关联。方法检测SLE患者(SLE组)及健康人(对照组)红细胞CR1分子水平及5个标签SNP位点基因型,比较对照组CR1基因各SNP位点基因型对应CR1分子水平的差异,以及SLE组和对照组组间红细胞CR1分子水平和CR1基因各SNP位点基因型、等位基因的分布差异,计算比值比(OR)及其95%CI。结果对照组CR1基因rs3818361C>T/TT基因型携带者红细胞CR1水平低于CC、CT基因型者(P<0.05),rs11118167T>C/TC、CC基因型携带者红细胞CR1水平低于TT基因型者(P<0.01),rs9429945C>T/CT、TT基因型携带者红细胞CR1水平低于CC基因型者(P<0.01)。SLE组CR1几何平均荧光强度比值(geometric mean fluorescence intensity ratio,GMFIR)低于对照组(P<0.01);有3个标签SNP位点与SLE发病关联(P<0.01或P<0.05),与非携带者比较,CR1-rs4844600G>A/GG基因型(OR:8.672,95%CI:3.864～19.462)及G等位基因(OR:7.419,95%CI:3.425～16.073)、CR1-rs3818361C>T/CC基因型(OR:1.872,95%CI:1.113～3.149)及C等位基因(OR:1.575,95%CI:1.067～2.325)、CR1-rs11118167T>C/TT基因型(OR:2.083,95%CI:1.065～4.071)及T等位基因(OR:1.941,95%CI:1.050～3.588)携带者患SLE风险增加。结论健康人CR1基因rs3818361C>T/TT基因型、rs11118167T>C/TC、CC基因型和rs9429945C>T/CT、TT基因型携带者红细胞CR1水平低于该SNP位点其他基因型携带者。SLE患者红细胞CR1分子水平降低,CR1基因rs4844600G>A、rs3818361C>T、rs11118167T>C等3个SNP位点与SLE发病关联,其易感基因型CR1-rs4844600G>A/GG、CR1-rs3818361C>T/CC和CR1-rs11118167T>C/TT与SLE患者CR1分子水平低无关。     

TLR-9 基因多态性与膝骨关节炎的易感性研究

目的研究Toll样受体9(TLR9)基因rs187084和rs5743836位点单核苷酸多态性,探讨其与膝骨关节炎易感性之间的联系。方法采用直接测序法分析145例膝骨关节炎患者和145名健康对照组的TLR9基因rs187084-1486TC和rs5743836-1237CT位点单核苷酸多态性。结果rs187084位点C等位基因是膝骨关节炎发生保护因素(OR=0.599,95%CI=0.424-0.847,P=0.002)。rs5743836位点基因型频率在研究组和对照组之间差异无统计学意义(χ~2=5.14,P=0.08)。TLR9基因rs187084位点单核苷酸多态性与年龄、膝骨关节炎严重程度相关,rs5743836位点单核苷酸多态性与年龄、膝骨关节炎严重程度不相关。结论 TLR9基因rs187084-1486TC位点单核苷酸多态性与膝骨关节炎易感性相关,rs5743836-1237CT位点单核苷酸多态性与膝骨关节炎易感性不相关。     

GTF2H1基因rs3802967多态性与肺癌易感性的关联性

 目的  探索GTF2H1基因rs3802967位点多态性与肺癌相关性。方法  采集肺癌及健康受试者外周血进行基因分型, 非条件Logistic回归分析该位点多态性与肺癌易感性之间相关性。结果  共收集上海及泰州地区885例肺癌患者和896例健康受试者外周血进行基因分型分析, 结果显示rs3802967 CT+TT vs. CC总体上肺癌风险显著增加(OR=1.943, 95%CI:1.559～2.426, P=3.989×10-9), 吸烟患者(CT+TT vs. CC, OR=2.382, 95%CI:1.798～3.167, P= 1.813×10-9)、男性患者(CT+TT vs. CC, OR=2.141, 95%CI:1.644～2.796, P=1.852×10-8)以及男性吸烟患者(CT+TT vs. CC, OR=2.283, 95%CI:1.709~3.059, P=2.718×10-8)肺癌风险显著增加。结论  GTF2H1基因rs3802967 C>T与肺癌患病风险正相关, 尤其在男性、吸烟患者中显著, 该位点有望成为肺癌易感个体筛查参考指标。     

肱骨远端全骺分离

肱骨远端全骺分离在5岁以下儿童中是较常见的肘部损伤,且极易误诊为肱骨髁上骨折或肘关节脱位。本组25例肱骨远端全骺分离均为向内侧移位,年龄11个月至14岁,平均5.6岁,属Salter-HarrisⅠ型或Ⅱ型。对本症骨骺损伤的解剖学和组织学,诸骨(和骨化中心)之间的对应关系以及骨骺损伤的诊治进行了简短的讨论。     

食指背侧皮瓣的临床应用

通过对右手虎口挛缩以及左拇指皮肤剥脱损伤各一例应用直指背侧皮瓣修复的成功经验,提出该手术的适应症和优点,并重点介绍其应用解剖学和手术方法。     

Investigation of hypoglycemic,hypolipidemic and antioxidant activities of aqueous extract of Terminalia paniculata bark in diabetic rats

Objective

To investigate the hypoglycemic, hypolipidemic and antioxidant activities of aqueous extract of Terminalia paniculata bark (AETPB) in streptozotocin (STZ)-induced diabetic rats.

Methods

Acute toxicity was studied in rats after the oral administration of AETPB to determine the dose to assess hypoglycemic activity. In rats, diabetes was induced by injection of STZ (60 mg/kg, i.p.) and diabetes was confirmed 72 h after induction, and then allowed for 14 days to stabilize blood glucose level. In diabetic rats, AETPB was orally given for 28 days and its effect on blood glucose and body weight was determined on a weekly basis. At the end of the experimental day, fasting blood sample was collected to estimate the haemoglobin (Hb), glycosylated haemoglobin (HbA1c), serum creatinine, urea, serum glutamate-pyruvate transaminase (SGPT), serum glutamate-oxaloacetate transaminase (SGOT) and insulin levels. The liver and kidney were collected to determine antioxidants levels in diabetic rats.

Results

Oral administration of AETPB did not exhibit toxicity and death at a dose of 2 000 mg/kg. AETPB treated diabetic rats significantly (P<0.001, P<0.01 and P<0.05) reduced elevated blood glucose, HbA1c, creatinine, urea, SGPT and SGOT levels when compared with diabetic control rats. The body weight, Hb, insulin and total protein levels were significantly (P<0.001, P<0.01 and P<0.05) increased in diabetic rats treated with AETPB compared to diabetic control rats. In diabetic rats, AETPB treatment significantly reversed abnormal status of antioxidants and lipid profile levels towards near normal levels compared to diabetic control rats.

Conclusions

Present study results confirm that AETPB possesses significant hypoglycemic, hypolipidemic and antioxidant activities in diabetic condition.     

大肠多发原发性癌:危险因素、诊治和预防(附8例报告)

综述分析1954～84年国内外文献,探讨了大肠多发原发性癌的诊断标准、发病情况、临床表现、发病危险因素、外科处理以及预防和诊断检测技术等问题,强调了大肠腺瘤,遗传基础、免疫缺陷、慢性溃疡性结肠炎等在发病上的作用,及高危险组患者应按方案进行常规检测监护之重要性。述介了大肠多发原发性癌系一种原发性大肠癌多中心发生的形式,在诊治上前者与后者有一致性,亦各有其独特性。报告宁夏医学院附属医院肿瘤科1977～84年收治的8例住院大肠多发原发性癌病例的临床资料,对诊治经过进行了初步总结。     

具有抗细菌黏附和杀菌双重功能的(HA/CHI-Van)5涂层的制备

目的：研究开发一种涂覆(HA/CHI-Van)5多层膜结构的骨科内植入物以用于预防骨内植入物感染。方法：将透明质酸（HA）和壳聚糖-万古霉素（CHI-Van）溶液进行层层自组装,制备得到(HA/CHI-Van)5多层膜结构;通过zeta电位检测组装过程,通过活细菌染色实验评价多层膜的抗细菌黏附效果,通过越狱实验和FE-SEM实验检测体外抗菌效果。SD大鼠随机分为空白组、(HA/CHI-Van)5组和假手术组,并以X线、Micro-CT、骨组织切片等方法检测该材料的体内动物实验效果。结果：每次组装不同的单层,zeta电位交替变化,证明多层膜组装成功。活细菌染色实验显示多层膜结构中的CHI具有一定的抗细菌黏附作用。越狱实验和FE-SEM实验证明(HA/CHI-Van)5多层膜结构在体外具有良好的抗菌作用。在体外实验中,(HA/CHI-Van)5组的X线评分为0.7,而空白组的评分为12.3,(HA/CHI-Van)5组在骨密度、骨小梁数量、骨体积分数、骨组织切片方面均优于空白组（均P＜0.05）,且非常接近假手术组（均P＞0.05）。结论：通过在骨科内植入物表面涂覆(HA/CHI-Van)5多层膜结构能够获得一定的抗细菌黏附功能和良好的抗菌作用,可以预防骨内植入物感染。     

Association of smoking,alcohol and NSAIDs use with expression of cag A and cag T genes of Helicobacter pylori in salivary samples of asymptomatic subjects

Objective

To determine the association of smoking, alcohol and nonsteroidal anti-inflammatory drugs (NSAIDs) use with presence and virulence of Helicobacter pylori (H. pylori) infection in a representative sample of a random adult population of asymptomatic subjects.

Methods

Non virulent 16S rRNA and virulent cag A and T genes from salivary samples of 854 asymptomatic subjects were determined using polymerase chain reaction. The presence and absence of virulent and non virulent infection was statistically compared with consumption of smoking, alcohol and NSAIDs.

Results

The prevalence of infection in male and female subjects was found to be 69.25% and 66.90%, respectively. The prevalence of infection in the population of asymptomatic subjects with respect to consumption of alcohol was as follows: current (31.22%), former (52.20%) and never (43.58%). The prevalence of infection in the population of asymptomatic subjects with respect to smoking of cigarettes was as follows: current (88.80%), former (57.14%) and never (33.33%). The prevalence of infection in the subject population consuming NSAIDs and not consuming NSAIDs frequently was found to be 82.75% and 21.16%, respectively. Virulence in male and female subjects was found to be 60.00% and 50.00%, respectively. The presence of virulent infection in the population of asymptomatic subjects with respect to consumption of alcohol was as follows: current (28.57%), former (40.15%) and never (50.00%). The prevalence of virulent infection in the population of asymptomatic subjects with respect to smoking of cigarettes was as follows: current (79.32%), former (75.00%) and never (50.00%). The prevalence of virulent infection in the subject population consuming NSAIDs and not consuming NSAIDs frequently was found to be 88.23% and 66.66%, respectively.

Conclusions

It can be concluded that smoking and NSAIDs consumption are aggravating factors for virulence of H. pylori and alcohol can inhibit H. pylori infection in asymptomatic subjects.     

Phytochemical and anti-bacterial activity of epidermal glands extract of Christella parasitica (L.) H. Lev.

Objective

To study the morphology, biochemistry and bioactivity of the epidermal glands of the glandular morphotype of Christella parasitica (C. parasitica) (L.) H. Lev.

Methods

Morphological studies on epidermal glands were carried out by using light microscope and scanning electron microscope. To prepare the extract, the shade-dried fronds of glandular morphotype were soaked in acetone. For antibacterial studies paper disc method was followed by using various pathogenic bacteria.

Results

Detailed micromorphological, phytochemical and bioactivity studies on a medicinal fern C. parasitica (L.) H. Lev. showed its intraspecific variation in antibacterial activity. The presence or absence of the epidermal glands was the key factor for antibacterial activity in the morphovariants of this species. The epidermal glands were orange-coloured, stalked and elongated ones of about 84.2 µm × 45 µm, and distributed on the undersurface of costa, costules and veins in croziers, young and mature leaves. Frequency of glands varied from 15/cm on costa in mature leaves to 140/cm on costules in croziers. The acetone extract of the glands showed antibacterial activities and also toxic effect against mosquito larvae and tadpoles of frog. Preliminary phytochemical analysis and HPLC studies of the gland extract showed the presence of various kinds of terpenoids, alkaloids, tannins, saponins and flavonoids in it.

Conclusions

The present study shows that epidermal glands of the glandular morphotype of C. parasitica (L.) H. Lev. have several bioactive compounds and such rare morphovariant should be conserved in nature. The next step is to isolate the pure compounds and to screen the bioactivity of individual compounds of the epidermal glands.     

NGR修饰唑来膦酸长循环脂质体制备及其表征研究

目的:制备具有肿瘤血管靶向的NGR修饰唑来膦酸长循环脂质体,并对其进行表征研究。方法：采用薄膜分散法制备NGR修饰唑来膦酸长循环脂质体,,并对其进行表征研究,并测定包封率。结果：制备得到的NGR-PEG-ZOL-LPs平均粒径为(271.43±9.23)nm,Zeta电位为-(36.20±0.20)mv,多分散系数(PDI)为(0.15±0.03),理化性质相对稳定;NGR-PEG-ZOL-LPs包封率为8.41%;电镜下显示NGR-PEG-ZOL-LPs呈类圆形,大小分布均匀,无明显聚集。结论：采用薄膜分散法制备的NGR修饰唑来膦酸长循环脂质体具有较高的稳定性,从而为体内药效学研究奠定基础。     

银川市161名托幼机构儿童铁营养状态评价

对161名6个月以上、7岁以下托幼机构儿童取静脉血作血红蛋白、血清铁、转铁蛋白、红细胞内游离原卟啉和血清铁蛋白测定,以估价该组儿童的铁营养状态。结果铁减少者15例(9.3％),缺铁性红细胞生成者19例(11.8％),缺铁性贫血者52例(32.3％),正常者75名(46.6％);15名二周岁以下小儿患铁缺乏症者14例,提示改善学龄前儿童、特别二岁以下小儿的铁营养状态实属必需。