Further evidence for a susceptibility locus for type 2 diabetes on chromosome 20q13.1-q13.2

We previously reported suggestive linkage between type 2 diabetes and markers in a region on chromosome 20q using data from a collection of 29 Caucasian families in which type 2 diabetes with middle-age-onset was segregated as an autosomal-dominant disorder. To map more precisely the susceptibility locus (or loci) within this broad region, we increased the family collection and genotyped all families for additional markers, both within the critical region and spaced over the rest of chromosome 20. Altogether 526 individuals (including 241 with diabetes) from the total collection of 43 families were included in the study. All individuals were genotyped for 23 highly polymorphic markers. Positive evidence for linkage was found for a 10-cM region on the long arm of chromosome 20q13.1-q13.2 between markers D20S119 and D20S428. The strongest evidence in two-point as well as multipoint linkage analysis (P = 1.8 x 10(-5)) occurred at the position corresponding to marker D20S196. The individuals with diabetes in the seven most strongly linked families had high serum insulin levels during fasting and 2-h post-glucose load periods. We did not find any evidence for linkage between type 2 diabetes and any other region on chromosome 20. In conclusion, our larger and more comprehensive study showed very strong evidence for a susceptibility gene for insulin-resistant type 2 diabetes located on the long arm of chromosome 20 around marker D20S196.     

肇庆市1998～2002年5岁以下儿童生命监测结果与干预措施

目的 :掌握肇庆市 5岁以下儿童死亡变化趋势及主要死亡原因 ,探讨干预措施。方法 :对 1998～ 2 0 0 2年肇庆市5岁以下儿童生命监测结果进行分析。结果 :5岁以下儿童死亡率呈逐年下降。 5岁以下儿童死亡死因依次为肺炎、早产低体重儿、新生儿窒息、意外事故、腹泻、先天畸形、诊断不明、先心病。提出做好围产期保健工作 ,提高产科、儿科质量 ,推广窒息复苏技术 ,普及科学育儿知识等措施     

大鼠晕船适应动物模型的建立

的　建立大鼠晕船适应动物模型。方法　将经过筛选的 4 0只SD雄性大鼠随机分为正常对照组、晕船组、晕船适应组及适应对照组 ,实验组动物进行模拟晕船刺激后分不同时间处死。主要以异食癖行为的发生与消失来判断大鼠晕船及适应的产生 ,同时结合大鼠晕船及适应发生前后行为的改变和血浆促肾上腺皮质激素 (ACTH)、β 内啡肽 (β EP)和肾上腺维生素C含量的变化来辅助证明大鼠晕船适应的产生。结果　在接受模拟晕船刺激的第 3天大鼠异食高岭土量 [(0 .8± 0 .0 2 )g]明显高于正常对照组 [(0 .0 3±0 .0 1)g],差异有显著性 (P <0 .0 1) ,从第 8天起大鼠异食高岭土量开始减少 ,到第 16天正常对照组和晕船适应组大鼠异食高岭土量的差异无显著性 (P >0 .0 5 )。晕船发生后 ,大鼠血浆ACTH[(16 4 7.83± 10 8.2 1)pg/ml]和β EP[(5 19.2 2± 6 3.35 )pg/ml]水平明显高于正常对照组 [分别为 (10 6 9.6 9± 15 8.96 )、(2 5 7.91±4 3.12 )pg/ml],晕船适应组、适应对照组及正常对照组大鼠血浆ACTH和β EP含量的差异无显著性 (P >0 .0 5 )。晕船组大鼠肾上腺维生素C含量 [(2 .89± 0 .30 ) μg/mgpro]明显低于正常对照组 [(3.38±0 .31) μg/mgpro],正常对照组、晕船适应组和适应对照组间大鼠肾上腺维生素C含量的差异     

外周血单个核细胞感染乙型肝炎病毒对新生儿宫内感染的影响

目的 :探讨 HBs Ag、 HBe Ag阳性孕妇外周血单个核细胞 ( PBMC)内乙型肝炎病毒 ( HBV) DNA感染状况及其在宫内母婴垂直传播中的作用。方法 :对 HBs Ag/ HBe Ag双阳性共 6 7对孕妇及其新生儿静脉血分离和提纯 PBMC后 ,经抽提、纯化后的 DNA进入 PCR扩增反应 ,引物为 HBV C区基因序列。结果 :6 7例 HBs Ag及 HBe Ag双阳性的孕妇中有 35例 ( 5 2 .2 % )PBMC中 HBV DNA阳性 ,2 5例孕妇在血清及 PBMC中均发现 HBV DNA。6 7例新生儿有 2 2例感染 HBV DNA,感染率 32 .8% ,其中血清 HBV DNA阳性者 10例 ,PBMC HBV DNA阳性者 19例 ,二者均阳性者 7例。结论 :母亲 PBMC内 HBV DNA阳性可能导致新生儿 PBMC中 HBV DNA阳性 ,PBMC内的 HBV DNA可能是 HBV母婴垂直传播的一条重要途径 ,同时 ,HBs Ag及HBe Ag阳性母亲若血清 HBV DNA为阳性就极大增加了其新生儿感染 HBV的危险性     

孤立型脉络膜血管瘤的超声诊断

目的 探讨孤立型脉络膜血管瘤的超声诊断价值。方法 使用标准化A超联合B超诊断6例脉络膜血管瘤。结果 脉络膜血管瘤B超显示实性占位病变，回声与正常脉络膜组织回声一致；A超表现为病变内高反射波。结论 超声检查是诊断脉络膜血管瘤有价值的辅助手段。     

新型结膜瓣转位术治疗翼状胬肉

目的　探讨新型结膜瓣转位术治疗翼状胬肉的疗效。方法　采用传统翼状胬肉切除术 (A组 )、翼状胬肉切除联合球结膜移植术 (B组 )和新型的结膜瓣转位术 (C组 )治疗翼状胬肉方法学的研究 ,对比 3组手术方法 2a复发率及创面修复时间。结果　A组角膜创面修复时间平均为 8.5 2d ,B组 4 .85d、C组 4 .4 1d。经 2a以上随访 ,A组治愈率为77 8% ,B组为 10 0 %、C组为 10 0 % .结论　新型结膜瓣转位术治疗翼状胬肉 ,与传统方法相比 ,具有操作简单 ,创伤小 ,恢复快 ,复发率低等优点 ,是目前治疗翼状胬肉很有前途的手术方法。     

原发性开角型青光眼眼部血流动力学以及高血压对其的影响

目的　探讨原发性开角型青光眼眼部血流动力学以及高血压对其的影响。方法　研究对象为我院确诊的原发性开角型青光眼患者 4 9例 4 9眼 ,其中 19例有全身高血压病史。根据是否合并高血压分为 2组 ,应用彩色多普勒成像技术检测眼动脉 (OA)、视网膜中央动脉 (CRA)和后短睫状动脉 (SPCA)的血流动力学指标 ,取年龄相匹配的正常人 18例作为对照组。结果　青光眼患者的CRA及SPCA的收缩期峰值流速 (PSV) ,分别为 (7.6 4cm·s-1± 2 .6 0cm·s-1,9 2 1cm·s-1± 1.16cm·s-1)、舒张期血流速度 (EDV )(2 .0 4cm·s-1± 0 .95cm·s-1,2 .98cm·s-1± 0 .88cm·s-1)及平均流速 (MV) (3.87cm·s-1± 1 34cm·s-1,4 92cm·s-1±1 12cm·s-1)均低于正常对照组 ,阻力指数 (RI) (均为 0 70±0 0 6 )明显高于正常对照组。合并高血压的青光眼患者CRA及SPCA的PSV(9 4 5cm·s-1± 2 38cm·s-1,10 2 3cm·s-1±1 2 5cm·s-1)、EDV(3 0 8cm·s-1± 1 12cm·s-1,3 5 2cm·s-1± 1 10cm·s-1)和MV (4 92cm·s-1± 1 5 2cm·s-1,5 5 4cm·s-1± 1 2 6cm·s-1)明显高于非高血压的青光眼患者。结论　青光眼患者的球后血管的血流速度明显下降 ;无高血压的青光眼患者的血流速度低于合并全身高血压的青光眼患者。     

亚甲基四氢叶酸还原酶基因多态和叶酸摄取与乳腺癌的发病风险

Objective To evaluate the relationship between dietary folate intake and genetic polymorphisms of 5, 10-methylenetetrahydrofolate reductase (MTHFR) with reference to breast cancer risk. Methods A case-control study was conducted with 669 cases and 682 population-based controls in Jiangsu province of China. MTHFR C677T and AI298C genotypes were identified by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) methods. Dietary folate intake was assessed by using an 83-item food frequency questionnaire. Odds ratios (OR) were estimated with an unconditional logistic model. Results The frequencies of MTHFR C677T C/C, C/T and T/T genotypes were 32. 37% (202/624), 48. 88% (3051624) and 18. 75% (117/624) in cases and 37. 66% (235/624), 48.24% (301/624) and 14. 10% (88/624) in controls,respectively. The difference in distribution was significant (X2=6. 616, P=0. 037), the T/T genotype being associated with an elevated OR for breast cancer (1.62, 95% CI: 1.14 -2. 30). The frequencies of MTHFR A1298C A/A,A/C and C/C were 71.47% (446/624), 27.08% (169/624) and 1.44% (9/624) in cases and 68. 11% (425/624) ,30. 13% (188/624) and 1.76% (11/624) in controls, with no significant differences found (X2=1.716, P=0. 424). Folate intake of cases [(263.00±137. 38)μg/d]was significantly lower than that of controls [(285. 12±149. 61)μg/d](t=-2. 830,P=0. 005). Compared with the lowest tertile (≤199. 08μg/d) of folate intake,the adjusted OR for breast cancer in the top tertile (≥315.μg/d) was 0. 70 (95% CI:0. 53 -0. 92). Among individuals with the MTHFR A1298C A/A genotype,adjusted OR for breast cancer were 0. 89 (95% CI: 0. 62 -1.27)and 1.69 (95% CI: 1.20 -2. 36) for the second to the third tertite of folato intake compared with thehighest folate intake group (Xtrend2=11. 372, P=0. 001). Conclusion The findings of the present study suggest that MTHFR genetic polymorphisms, and dietary intake of folate may modify susceptibility to breast cancer.     

硫酸鱼精蛋白注射液细菌内毒素检查研究

目的 :对硫酸鱼精蛋白注射液进行细菌内毒素检查的可行性研究 ,为该药品质量标准中制定内毒素检查项提供参考。方法 :采用凝胶法分别对两个不同生产厂家的各 3批样品进行干扰试验。结果 :硫酸鱼精蛋白注射液 (10 mg/ ml)在稀释 2 4 0倍时无干扰作用 ,可用细菌内毒素检查法进行检查。结论 :硫酸鱼精蛋白注射液细菌内毒素检查是可行的。     

有胫前黑斑的2型糖尿病患者皮肤黑斑和肾活检

目的：研究2型糖尿病(T2 DM)肾脏、皮肤病变的性质及两种组织病变与T2 DM高血糖之间的关系。方法：对573例门诊T2 DM患者进行流行病学调查，了解T2 DM伴胫前皮肤黑斑的发病率；对16例T2DM伴胫前皮肤黑斑的患者均进行了。肾活检和皮肤活检，对101例伴胫前皮肤黑斑T2 DM的血清做了血清蛋白电泳。结果：T2 DM伴胫前皮肤黑斑的发病率为24．78％；肾活检和皮肤活检的病理和免疫组化证实，肾脏有不同的病理形态改变，但肾脏和皮肤存在许多免疫复合物沉积；有4例患者的血清蛋白电泳凝胶上有多余的蛋白带，位置一致，分子质量较大。结论：这类患者肾脏和皮肤同时受自身免疫损害，胰腺β细胞和眼底病变可能为同一发病机制。