大骨节病健康相关生存质量架构的质性研究

目的 建立我国大骨节病健康相关生存质量的架构,以期反映出大骨节病对患者生存质量的影响.方法 运用质性描述性研究,采用世界卫生组织(WHO)对健康及生存质量的定义发展半开放式问题,通过焦点团体访谈和面对面访谈,收集陕西省大骨节病患病率较高的病区麟游县、永寿县29名大骨节病专家和48名大骨节病患者的意见,并用WHO生存质量问卷(WHOQOL-100)的架构作为模板,用内容模板法分析访谈资料.结果 大骨节病健康相关生存质量架构包含了4个领域:身体活动能力、家庭/社会支持、经济、心理状态;反映在11个方面:疼痛与不适,身体功能与活动限制、饮食与睡眠、社会关系、对家庭责任的担忧、社会支持、经济状况、住房及周围环境、对外貌的担心、精神状况、总的健康状况;共有69个条目.结论 建立了大骨节病健康相关生存质量的架构,该架构凸显了大骨节病对患者生存质量的影响,特异性较强.     

用于PCR产物检测的液相杂交法的优化

目的　为了使液相交在检测更加灵敏、特异、快速。方法　通过改进杂交液的成分 ,选择最佳的探针浓度 ,使 5’端标记生物素的PCR扩增产物与 5’端标记地高辛的探针在PCR反应管中进行液相杂交 ,杂交条件为 :94℃ 10s冷却到 37℃ 10s即完成杂交。杂交后产物通过链霉素亲和素被固定在微孔表面 ,同时在含高浓度DMSO的杂交液中将非特异结合的探针解离 ,然后对被固定的特异杂交产物进行ELISA检测。结果　液相杂交的条件优化 :杂交液中DMSO浓度为 30 0ml/L ,探针浓度为 0 5 μmol/L ,杂交温度为 37℃。对 6 0bp～ 6 0 0bp的PCR产物的杂交特异性无明显差异 ,可以检测到 1× 10 4copy的PCR产物 ,对 10 0例乙型肝炎患者的血清进行检测 ,HBsAg( )、HBeAg( )、抗HBc( )的血清检出HBVDNA阳性为 10 0 % (30 / 30 ) ;HBsAg( )、抗HBe( )、抗HBc( )的血清检出HBVDNA阳性为 10 0 % (30 /30 ) ;HBsAg( )、抗HBe( )、抗HBc( )的血清检出HBVDNA阳性为 78 6 % (2 2 / 2 8) ;HBsAg( )、抗HBc( )的血清检出HBVDNA阳性为 6 6 7% (16 / 2 4 ) ,其余为阴性。结论　该液相杂交法操作简单、快速、灵敏、特异 ,适合临床实验室使用     

亚洲乙型肝炎病毒前C区突变检测的临床意义

１９８９年Ｂｒｕｎｅｔｔｏｅｔａｌ［１］和Ｃａｒｍａｎｅｔａｌ［２］先后报道抗Ｈｂｅ阳性的慢性肝炎患者中,发现了ＨＢＶ前Ｃ区突变株,即在前Ｃ区１８９６点ＴＧＧ转变为ＴＡＧ,产生终止码,阻止ＨＢｅＡｇ合成．后来在许多国家和地区都相继发现了相同的突变株．在我国也有许多关于前Ｃ区突变与慢性肝炎肝硬变有关的报道［６］．这些报道总体上说明１８９６点突变株在毒力上不但比野型株强,而且与野型株有相同的复制和感染能力．我们用双重ＰＣＲ方法对ＨＢＶ感染者血清中ＨＢＶＤＮＡ前Ｃ区１８９６点的突变率进行检测,研究其…     

低硒、低碘及联合对亲代和子代大鼠骨、软骨生长的影响

Objective To study the effects of selenium deficiency,iodine deficiency and combined selenium and iodine deficiency on bone and cartilage growth in the parental and the first filial generation rats. Methods Forty-eight weanling healthy SD rats were randomly divided into selenium deficieney, iodine deficiency, combined selenium and iodine deficiency and control groups according to their body mass. These rats were fed with selenium deficiency, iodine deficiency, combined selenium and iodine deficiency, and normal fodder, respectively. The parental rats (about 3 months old) were mated in each group 8 weeks after the beginning of the experiment. Right tibias and left knee joints were collected when the parental generation rats were about 6 months and the first filial generation rats were about 3 months old. Tibial length, mid-shaft tibial diameter, and articular cartilage diameters of the right tibias were measured by vernier caliper. Left knee joints were embedded and cut into sections and the thickness of the growth plate cartilage, layers of proliferative and hypertrophic chondrocytes in growth plate cartilage were observed under the light microscope. Results The selenium deficiency had significant effect on serum selenium level of the parental and the first filial generation rats(F value were 239.56,232.68, P< 0.01), and also on serum T4 level of the first filial generation rats(F value were 6.95, P < 0.05). The iodine deficiency had significant effect on serum T3 and T4 level in the two generations rats(F value were 14.11,14.05,30.29,34.53, P < 0.01 ). There were interactions between selenium deficiency and iodine deficiency on serum T4 level in the first filial generation rats (F= 5.99, P< 0.05). The serum selenium of selenium deficiency group[ (30.28 ± 6.34), (43.95 ± 9.75)μg/L],combined selenium and iodine deficiency group[ (30.33 ± 5.18), (35.40 ± 3.16)μg/L] were significantly lower than iodine deficiency group[(345.83 ± 29.55), (245.24 ± 9.95)μg/L] and the controls[ (358.64 ± 30.50), (236.50 ±9.75) μg/L] in the two generations. The serum T3 of combined selenium and iodine deficiency group [(0.55 ± 0.05 ),(0.88 ± 0.14)nmol/L] were significantly lower than the controls[(0.75 ± 0.08), (1.26 ± 0.26)nmol/L] in the two generations. The serum T4 of iodine deficiency [ (24.11 ± 2.29), (42.10 ± 8.92) nmol/L ] and combined selenium and iodine deficiency group[ (20.66 ± 1.93), (26.55 ± 5.98)nmol/L] were significantly lower than the controls[ (36.15 ±2.74), (52.79 ± 8.84)nmol/L] and selenium deficiency group[ (28.12 ± 3.33), (52.02 ± ll.99)nmol/L] in the two generations. The selenium deficiency and iodine deficiency had significant effect on tibial length, thickness of the growth plate cartilage, layers of proliferative and hypertrophic chondrocytes in first filial generation rats(F values were 24.31,6.98,40.76,56.15,25.24,82.82, 10.07,5.57, P <0.05 or <0.01). There were interactions between selenium deficiency and iodine deficiency on tibial length, thickness of the growth plate cartilage, layers of proliferative and hypertrophic chondrocytes (F values were 5.68,24.86,41.82,9.12, P <0.05 or <0.01 ). The tibial length of the selenium deficiency group[ (33.17 ± 0.34)mm] and combined selenium and iodine deficiency group[ (31.30 ± 0.87)mm] were significantly lower than the controls[ (34.12 ± 0.32)mm, P< 0.05]. Thickness of the growth plate cartilage [ (1.60 ± 0.18)mm ], layers of proliferative chondrocyte (8.54 ± 0.81), and hypertrophic chondrocyte (4.95 ± 0.37)of the combined selenium and iodine deficiency group were significantly decreased when compared to the selenium deficiency group[ (3.03 ± 0.10)mm, 14.68 ± 0.84,6.60 ± 0.31], iodine deficiency group[ (2.90 ± 0.09)mm, 13.75 ±0.33,6.61 ± 0.84 ] and the controls [ (3.19 ± 0.09) mm, 14.94 ± 0.36, 6.64 ± 0.26, P <0.05]. Thickness of the growth plate cartilage, layers of proliferative chondrocyte of the iodine deficiency group were lower than the controls(P<0.05). Conclusions Selenium deficiency impair tibial growth in first filial generation rats, iodine deficiency retarded the chondroncyte proliferation and decreases the thickness of growth plate cartilage in first filial generation rats, and combined selenium and iodine deficiency significantly impair the growth of bone and cartilage in first filial generation rats.     

陕西汉族人群2号和11号染色体15个STR基因座的遗传多态性

目的:分析陕西汉族人群2号和11号染色体上15个短串联重复序列(short tandem re-peat,STR)位点的多态性.方法:采用荧光标记基因扫描技术对15个STR基因座在175例无血缘关系的陕西汉族人中的遗传多态性进行分析.结果:D2S335, D2S396, D25338, D2S2382, D2S305, D2S151, D2S2368, D2S391, D11S912, D11S4090, D11S4147, D11S4190, D11S4149, D11S4126, D11S4094分别检出11,11,11,10,8,8,9,12,7,11,8,10,5,5,6个等位基因,各位点等位基因型分布符合Hardy-Weinberg平衡,杂和度(heterozygosity,H)为0.4216～0.8517,个体识别力(power of dis-crimination,DP)为0.6568～0.9598,多态信息量(polymerphism information content,PIC)为0.4078～0.8366,非父排除率(probability of paternity exclusion,EPP)为0.3135～0.8537.结论:15个STR基因座在陕西汉族人群中具有较好的多态性,表明了陕西汉族人群15个STR基因座结构特征,为人类学、法医学研究提供了数据.     

西安市区与农村学龄儿童发铅含量调查

目的了解西安市区与农村儿童发铅水平。方法于2001年4-6月在西安市区及农村各选择1所小学,共调查203名7～13岁儿童,采集发样,使用火焰原子分光光度法测定发铅含量。结果西安市区和农村儿童发铅含量几何均数分别为4.69、1.67μg/g,差异有统计学意义(t=7.78,P<0.01);西安市区和农村儿童发铅存在年龄间差异,低年龄组发铅含量较高,随年龄增加,发铅呈下降趋势,但农村儿童在9～10岁后又略有增高;西安市区男女儿童发铅差异无统计学意义,但农村男童发铅含量(中位数2.92μg/g)高于女童(中位数1.52μg/g),Z=-2.30,P<0.05;市区儿童高发铅(≥10.0μg/g)检出率(13.2%)明显高于农村儿童(1.2%),χ2=9.18,P<0.01。结论西安市区儿童发铅高于农村儿童,市区儿童高发铅检出率亦高于农村;西安市区和农村7～13岁儿童发铅含量均呈现出随年龄增长而下降的趋势,但农村儿童在9～10岁后又略有增高;西安市区男女儿童发铅含量差异无统计学意义,但农村儿童发铅含量男童高于女童。     

丁烯酸内酯诱导软骨细胞凋亡及其机制的研究

目的 研究丁烯酸内酯(BUT)致培养软骨细胞的凋亡损伤,探讨软骨细胞凋亡的机制及补硒对软骨细胞凋亡的保护作用.方法 体外单层及立体培养胎儿的软骨细胞.BUT毒素浓度分为0.1、1.0和5.0 μg/ml.脱氧核糖核酸末端转移酶介导的脱氧核糖核酸缺口标记技术和Annexin V染色定性和定量检测软骨细胞凋亡.用多克隆抗体免疫组化检测细胞凋亡相关调控因子Bcl-2、Bax在培养软骨细胞中的表达.结果 BUT毒素可引起体外培养软骨细胞凋亡,且与BUT毒素浓度有一定关系.在0～1.0 mg/ml之间时,BUT毒素浓度越大,凋亡细胞数量越多;各毒素组培养软骨细胞Bcl-2、Bax的表达显著增高(P＜0.05);BUT毒素加硒组软骨细胞凋亡较毒素组明显减少(P＜0.05),而且凋亡调控因子Bcl-2、Bax表达阳性率较毒素组降低(P＜0.05).结论 BUT毒素可以引起体外培养的软骨细胞凋亡,且与BUT毒素浓度有一定关系,各毒素组Bcl-2、Bax蛋白表达增多.补硒对BUT毒素所致软骨细胞凋亡有一定的保护作用.     

低硒与大骨节病2号染色体可疑STR位点交互作用的研究△

目的 寻找大骨节病(KBD)2号染色体易感基因,探讨低硒与KBD易感基因的交互作用在KBD发病中的作用.方法采用荧光标记基因扫描方法,对14个STR基因位点在陕西KBD病区患者和病区内对照及非病区外对照人群中的多态性进行分析,找出KBD 2号染色体的易感基因.采用原子荧光光谱法测定病例组、内对照组、外对照组血清硒水平,比较各组血清硒水平的差异,用Logistic回归模型分析低硒与KBD可疑易感基因的交互作用.结果D2S165与D2S2333两个位点在病例组、病区内对照组与非病区外对照组基因频率分布差异均有统计学意义(P＜0.05).病例组与内对照组的血清硒水平无差异,但均显著低于外对照组,未检出低硒和STR多态性位点之间的交互作用.结论病区人群仍处于低硒状态,但未发现二者的交互作用.     

2号染色体14个STR位点基因多态性与大骨节病的关联分析

目的 分析大骨节病与病区内对照及非病区外对照人群2号染色体上14个短串联重复序列(STR)位点多态性差异.方法 采用荧光标记基因扫描方法,对2号染色体上14个STR基因位点在陕西大骨节病病区患者、病区内对照及非病区外对照人群中的多态性进行分析.计算3组人群中14个基因位点的基因频率,并对各组间基因频率的分布进行比较.结果 D2S286、D2S165、D2S160、D2S2211、D2S367、D2S125、D2S206、D2S117,D2S142、D2S2333、D2S126、D2S325、D2S364和D2S337基因位点在病例组分别检出8、11、7、7、9、10、11、11、8、10、11、10、6和9个等位基因,病区内对照组分别检出7、10、6、7、7、8、10、10、8、8、11、8、7和7个等位基因,非病区外对照组分别检出8、11、7、7、10、9、11、11、7、9、11、7、8和7个等位基因.D2S165与D2S2333两个位点在3组基凶频率分布及病例组、病区内对照组与非病区外对照组频率分布差异均有统计学意义(P<0.05).D2S160位点在病例组与病区内对照组差异有统计学意义(p=0.046),D2S364位点3组基因频率分布差异有统计学意义(P=0.046).结论 大骨节病患者及内时照人群2号染色体D2S165与D2S2333位点的等位基因分布不同于非病区正常人.     

硒的特性、毒性及在某些国家的现状

硒是动物和人的一种必需微量元素,并在抗氧化物酶—谷胱甘肽过氧化物酶中发挥重要作用。这种酶能保护细胞膜免受脂质过氧化物的损伤。研究表明,硒缺乏能引起人和动物的健康损害;硒的毒性也非常大,能引起人和动物中毒。硒主要来源于膳食,在世界上的许多地区土壤中的硒水平通常反应了人群中的硒水平。食物中硒的活性和毒性取决于硒的化学结构。通常情况下,有机硒较无机硒(硒酸盐、亚硒酸盐)活性大而毒性小。