Successful DNA-based prenatal exclusion of juvenile neuronal ceroid lipofuscinosis

A family with two siblings, 10 and 8 years old, both with clinical and ultrastructural evidence of juvenile neuronal ceroid lipofuscinosis is described. The family was found to be informative for the restriction fragment length polymorphisms (RFLPs) detected by the probes pCJ52–95Ml (locus D16S148) and pCJ52-94Tl (locus D16S159) flanking the juvenile neuronal ceroid lipofuscinosis locus, CLN3. The parents were both heterozygous using these probes, while their two children with juvenile neuronal ceroid lipofuscinosis were both homozygous. Chorionic villi analysis showed that the fetus was heterozygous and had inherited the one allele of the mother which was not found in the two siblings. This suggested that the fetus had derived one healthy allele from the mother, the risk for a double crossing-over being less than 1 per cent. Electron microscopy showed no fingerprint inclusions in chorionic villi. The child was investigated at 6 months of age and found to be healthy, as new fingerprint inclusions were found at electron microscopy and no vacuolated lymphocytes were found in the blood smear. Due to the risk of heterogeneity, both DNA-based analysis and electron microscopy on chorionic villi are recommended for prenatal examination for juvenile neuronal ceroid lipofuscinosis.     

characteristics of PM2.5 in rural areas of southern Jiangsu Province, China

Introduction Anumberofstudiesabroadhavedemonstratedthat atmosphericfineparticulatematter(PM2.5,dp<2.5μm)is notonlyassociatedwithatmosphericvisibilityreductionbut alsohasaclearcorrelationwiththenumberofdailydeathsandhospitalizationsasaconsequenceofpulmonarydisease(Chan,1997;Christoforous,2000;Schwartz,1996;Wilson,1997).On18July,1997,theU.S.EnvironmentalProtectionAgency(USEPA)promulgatednewandsevere standardsforfineparticulates(PM2.5)withthesizebelow2.5μm(15μg m3asannualaverage,65μg m…     

GJB 150A淋雨试验强化试验程序数值模拟和试验装置设计研究

目的 研究GJB 150.8A—2009《军用装备实验室环境试验方法第8部分:淋雨试验》中强化试验程序的工程实现方法.方法 在标准解读的基础上,以强化试验程序用喷嘴为对象,建立数值模型,分析喷嘴在强化试验程序过程中的流场分布,并基于分析结果给出强化试验程序试验装置设计的思路和方法.结果 在喷嘴内,压力变化剧烈,极短距离内由276 kPa迅速降至101 kPa.水流经过喷嘴经历了激烈的加速过程,从距离喷嘴出口0.01～0.4 m,水流速度从251 m/s迅速降至17.8 m/s,到远场趋于稳定.结论 分析结果对指导强化试验程序的试验装置的设计和试验实施具有重要参考意义.     

主成份分析法在大气环境质量综合评价中的应用

介绍了主成份分析法评价大气环境质量的基本原理，并对某市的大气环境质量进行了综合评价。最后，与其它方法的评价结果进行了对比分析，进一步证实了主成份分析法的科学性、合理性。     

灰色系统在城市区域环境噪声分析中的应用

探讨了灰色系统在城市区域环境噪声分析中的应用 ,利用灰色系统对影响城市区域环境噪声变化的因素进行关联分析 ,找出优势因素。结果表明 ,灰关联分析较好地反映实际情况。     

Cobalt in alluvial Egyptian soils as affected by industrial activities

ＩｎｔｒｏｄｕｃｔｉｏｎＩｎｎａｔｕｒｅＣｏｏｃｃｕｒｓｉｎｔｗｏｏｘｉｄａｔｉｏｎｓｔａｔｅｓ ,Ｃｏ2 + ａｎｄＣｏ3+ ,ａｎｄｆｏｒｍａｔｉｏｎｏｆｔｈｅｃｏｍｐｌｅｘａｎｉｏｎＣｏ(ＯＨ) - 3 ｉｓａｌｓｏｐｏｓｓｉｂｌｅ .ＤｕｒｉｎｇｗｅａｔｈｅｒｉｎｇＣｏｉｓｒｅｌａｔｉｖｅｌｙｍｏｂｉｌｅｉｎｏｘｉｄｉｚｉｎｇａｃｉｄｅｎｖｉｒｏｎｍｅｎｔ,ｂｕｔｄｕｅｔｏａｈｉｇｈｓｏｒｐｔｉｏｎｂｙＦｅａｎｄＭｎｏｘｉｄｅｓ,ａｓｗｅｌｌａｓｂｙｃｌａｙｍｉｎｅｒａｌｓ,ｔｈｉｓｍｅｔａｌｄｏｅｓｎｏｔｍ…     

利用干酪根固体~(13)C核磁共振法研究下古生界碳酸盐岩的热演化程度

应用固体~(13)C－NMR技术对下古生界,海相碳酸盐岩干酪根的化学组成和结构特征进行研究，提出应用该技术所测算的干酪根结构参数“芳核平均结构尺寸”能较准确地反映碳酸盐岩的热成熟度。首次提出芳核平均结构尺寸与镜质体反射率之间的关系在干酪根的热演化过程中具有“三段式”特征。利用这一成果对华北地区下古生界成熟度进行了测定，与地质背景甚为吻合。     

An approach to the fluctuation mechanism of ecotone

In this paper,the relationship among land productivity,population pressure and the fluctuation mechanism of ecotone is analyzed,taking coumties and banners of southeast Inner Mongolia plateau as an example,which is the most fragile part in the farming and husbandry interleaving belt of north China due to its severe desertification degree and low level of economic development.The Cv for the total output value of agriculture decreases from southeast to northwest,with the same rule as which the overloading population cumulated distributes,and both indicators have close relation with the high linear coefficient of 0.83.These reveal the fluctuation mechanism for ecotone:fluctuation of the level of economic development is a scientific and practical measure both to weakness degree and to instability of ecotone,because it is a synthesized response to the variation of climate as well as irrational land uses,which reinforce and magnify the fluctuation.In detail,the heavier the population overloading,the severer the grassland reclamation,the stronger the dependence of regional productivity on rainfall,the lower the level of economic development,the rougher the fluctuation of ecotone,but the weaker the PRED system.     

管式反应器石灰雾液脱硫的数学模拟

建立的一维管式反应器雾液脱硫模型是对蒸发和吸收过程的耦合，以膜理论为基础的吸收机理同时考虑了含硫组分的离解、扩散、反应和固体颗粒的溶解。参数敏感性分析表明，对系统脱硫率影响最显的是出口干湿球温差，石灰颗粒粒度和入口ＳＯ２浓度、传质过程的分析表明，反应开始阶段液膜扩散和固体溶解阻力均存在，而气膜扩散在整个反应过程中都起着重要作用。     

8级大震的预测研究讨论

两个8级地震的预测在某种程度上被验证了。一个是 2001 年11月14 日昆仑山口西 8.1 级大震,另一个是 2003年9 月27日中蒙俄交界处的7.9 级地震(矩震级为 8级)。基于月球最北直下点的引潮力触发效应和8级大震的三性法分析,我们预测在2005～2008年间,西藏南部和附近地区可能再次发生 8级大震。