Prenatal diagnosis of a lethal form of Netherton syndrome by SPINK5 mutation analysis

Netherton syndrome (NS) is a severe autosomal recessive ichthyosis with no specific treatment or prenatal diagnosis available at present. The recent identification of SPINK5, which encodes a serine protease inhibitor, as the defective gene enables DNA-based prenatal diagnosis to be carried out. Here we report the first direct molecular prenatal diagnosis of a lethal form due to a recurrent SPINK5 mutation in three consanguineous Turkish families. XmnI restriction enzyme digestion and DNA sequencing demonstrated that each deceased affected child was homozygous for mutation 153delT inherited from each parent. Analysis of fetal DNA from amniotic fluid cells in Family 1 and from a chorionic villus sampling in Family 3 showed that the fetus was heterozygous for 153delT in both cases. The pregnancies were carried to term and the newborns were unaffected. In Family 2, fetal DNA analysis from chorionic villus biopsy showed in a first pregnancy that the fetus was homozygous for 153delT. The pregnancy was terminated at 13 weeks and DNA analysis of fetal keratinocytes confirmed the prenatal prediction. In a second pregnancy in Family 2, fetal DNA analysis showed heterozygosity for 153delT, and the pregnancy was continued. Direct SPINK5 mutation analysis in families at risk for NS represents the first early, rapid and reliable method for prenatal diagnosis of this life-threatening form of ichthyosis. Copyright © 2002 John Wiley & Sons, Ltd.     

缓蚀剂在军用飞机维护中的应用研究

目的验证海洋环境下硬膜水置换型缓蚀剂应用于军用飞机连接部位的有效性。方法采用功能渗透性试验、环境谱加速腐蚀对比试验对缓蚀剂性能进行评价,并通过在某型飞机典型结构部位的领先试用验证缓蚀剂的实际应用效果。结果缓蚀剂渗透率可达到85%。应用于军用飞机内部,对腐蚀的发展有明显的抑制作用,可显著延长腐蚀发生的时间。结论应用缓蚀剂作为腐蚀预防的有效手段,可在军用飞机维护中推广应用。     

严酷环境下飞机外场腐蚀防护对策与措施

简要分析了飞机在沿海及海岛等严酷环境下使用面临的腐蚀问题,通过列举国内外典型飞机腐蚀案例,阐明了环境腐蚀对飞机的危害性。简要介绍了美军飞机腐蚀防护对策与控制措施。针对我国现役飞机的严酷使用环境、腐蚀特点研究制定了外场条件下飞机腐蚀防护对策与措施,主要包括有针对性的腐蚀检查、表面清洗、除湿干燥、机载电子电气设备防护措施、易腐蚀部位涂覆缓蚀剂、动部件活动部位涂覆润滑脂、腐蚀损伤修复的原则与措施等。     

阻垢剂对钙离子沉积的影响及其机理

全面研究了4种阻垢剂从低浓度到高浓度对钙离子的作用。在低浓度阶段，阻垢效果随着阻垢剂浓度的增加而增强；在高浓度阶段，阻垢剂会与钙离子生成沉淀，加大浓度后沉淀会溶解。经过分析发现，这几种阻垢剂与钙离子之间存在化学计量关系。     

新型杀生剂与阻垢剂组合在城市污水回用中的应用

针对城市污水处理厂二级出水回用作循环冷却水补充水的工艺，采用新型杀生剂与阻垢剂组合进行了动态试验。加入药剂后腐蚀速率为0.00087g/（m^2·h）和0.00116g/（m^2·h），缓蚀率在80%左右，表明该药剂能较好地控制铜管腐蚀。     

大豆皂甙复合物抑制猴免疫缺陷病毒活性的观察

以猴免疫缺陷病毒（ＳＩＶ）为靶病毒和相应的ＣＥＭｘ１７４细胞系统为模型，以ＡＺＴ为阳性对照药物，观察了从大豆提取的皂甙复合物及大豆胰蛋白酶抑制剂对细胞病变的影响．结果表明，大豆皂甙复合物具有明显的抗ＳＩＶ作用，而大豆胰蛋白酶抑制剂则无抗ＳＩＶ作用．     

有色冶炼重金属废水回用研究

通过对株洲冶炼厂重金属废水回用结垢问题的研究，针对其垢样主要属碳酸钙垢型的特点，提出以投加高效低剂量的阻垢剂作为防止结垢的主要方法，运行证明，该防止结垢方法具有明显的经济效益和环境效益，应用前景广阔。     

利用磷霉素生产盐渣合成阻垢剂

将磷霉素生产盐渣经水解得到右旋磷霉素二钠,再通过亲核取代反应得到可用作循环冷却水阻垢剂的氨基二乙基(1-甲基-2-羟基)膦酸四钠(ADMHP·Na4),并用FTIR表征了产物结构.实验结果表明:在取代反应温度为25℃、取代反应时间为2h、n(氨水)∶n(右旋磷霉素二钠)=8的条件下,由右旋磷霉素二钠制备ADMHP·Na4,收率可达83.87％.处理1t盐渣可创造利润3 080元.当ADMHP·Na4质量浓度为30 mg/L,水样温度为60℃时,ADMHP·Na4对CaCO3的阻垢效果较好,阻垢率可达91.47％.     

Effects of the inhibitor of pyruvate dehydrogenase multi-enzyme complex on hydrogen production by fermentative microbes

The redox state of carbon sources directly affected the ratio of NADH/NAD⁺ which was coupled to the hydrogen production by Bacillus sp. FS2011. The addition of the inhibitor of pyruvate dehydrogenase multi-enzyme complex (PDHc)E1 could regulate hydrogen production by FS2011 or pretreated compost in batch cultivation. With the addition of appropriate amount of inhibitor, hydrogen production via the NADH pathway was increased, leading to the higher overall hydrogen production. The maximum hydrogen yields of 307.6 ± 13.21 mL/g by FS2011 with the inhibitor of 80 ppm and 362.1 ± 10.1 mL/g by pretreated compost with the inhibitor of 60 ppm were observed, which were increased by 8.7% and 17.8% compared with the controls, respectively. Meanwhile the production of soluble metabolic byproducts such as butyrate, acetate and so on were decreased, resulting in reducing the difficulty of wastewater treatment.