Carbamoyl phosphate synthetase I deficiency: molecular genetic findings and prenatal diagnosis

We report a Japanese boy who died at Day 28 of life because of severe carbamoyl phosphate synthetase I (CPS1) deficiency that was proven by enzyme assay. By analysis of cDNA and genomic DNA, he was shown to be a compound heterozygote with two point mutations of the CPS1 gene, 840G>C leading to an aberrant splicing and 1123C>T (predicting Q375X). The 840G>C was a mutation described in another Japanese family. Since his parents carried each mutation heterozygously, we performed prenatal diagnosis at 16 weeks of his mother's next gestation by multiplex PCR and melting curve analysis in a single capillary containing two-color fluorescent (LC-Red 640 and LC-Red 705) probes on LightCycler. We analyzed genomic DNA extracted from amniotic cells and found that the fetus was homozygous for the wild-type alleles. At term a healthy girl was born without hyperammonemia. Copyright © 2001 John Wiley & Sons, Ltd.     

Prenatal diagnosis of Crigler–Najjar syndrome type I by single-strand conformation polymorphism (SSCP)

Crigler–Najjar syndrome type I (CN-I) is a rare and severe inherited disorder of bilirubin metabolism, caused by the total deficiency of bilirubin-UDP-glucuronosyltransferase (UGT) activity. Enzymatic diagnosis cannot be performed in chorionic villi or amniocytes as UGT is not active in these tissues. The cloning of the UGT1 gene and the identification of disease-causing mutations have led to the possibility of performing DNA-based diagnosis. Here we report DNA-based prenatal diagnosis of CN-I in two Tunisian families in whom CN-I patients were diagnosed. As we had previously shown that CN-I was, in Tunisia, associated with homozygosity for the Q357R mutation within the UGT1 gene, we were able to detect this mutation in both families and to show that it was easily recognized by single-strand conformation polymorphism (SSCP) analysis. In both cases, SSCP analysis of fetal DNA showed that the fetus was heterozygous for the Q357R mutation. In one family, the pregnancy was carried to term and a healthy baby was born, whereas, in the other family, the pregnancy is still continuing. Thus the prenatal diagnosis of CN-I is possible, provided disease-causing mutations have been identified. SSCP analysis of DNA prepared either from amniocytes or from chorionic villi is a simple, reliable and fast method for prenatal diagnosis. Copyright © 2002 John Wiley & Sons, Ltd.     

Relief workers and violations of humanitarian law: Some legal considerations

This paper examines the various legal constraints upon action by relief workers when faced with violations of human rights or of humanitarian law. The unique status of the International Committee of the Red Cross (ICRC) and its delegates is explained and contrasted with the position of relief organizations and their personnel under the Geneva Conventions 1949 and their Additional Protocol I 1977. Proposals are made for the establishment of guidelines for action by relief workers when confronted with atrocities and for the training of relief workers in the relevant laws and procedures.     

武汉阳逻长江公路大桥设计风速值的研究

利用武汉市气象站1961～1999年的风的基本资料，分析了桥位周边平均风速、最大风速、大风日数、最多风向及频率、各风向平均风速及频率、历年的极值风速及大风危害等风的基本特征；建立了武汉市气象站1961～1995年的逐年最大风速序列(其中1989～1995年的逐年最大风速，通过与未受城市化影响的黄陂气象站的比较而进行了合理的订正)。根据建筑设计规范采用极值I型曲线，并用两种参数估计方案。推算出武汉市气象站不同重现期(100，50，30a)10m高处10min平均年最大风速(基本风速)分别为19．4m／s，18．4m／s和17．8m／s。采用比值法求出，从气象站到大桥江边最大风速的增大系数为1．54，从而得到桥位区不同重现期(100，50，30a)10m高处10min平均年最大风速(设计风速)分别为29．9m／s、28．3m／s和27．4m／s。最后分析了大风在146m高度内的变化特征，并采用指数和对数法将设计风速外推到200m以下每10m高度层，可供设计、施工及将来维护参考。     

Effects of recreational use on forested sites

Impact of recreational activities on soil and vegetation was evaluated in eight forested camping and picnic areas in southern Rhode Island. Forest vegetation consists of mixed-oak and white pine stands. Soils are of granitic glacial till or outwash origin and textures range from loamy sand to find sandy loam. Recreational use resulted in significant compaction of soils as indexed by soil penetration resistance and bulk density. Evidence indicates that compaction influences bulk densities to a depth of about 12.7 cm. Rates of water infiltration are less on recreation areas. Soil water accretion and depletion during the growing season are less rapid on recreation sites than on control sites. Differences are attributed to reduced infiltration, percolation, and rooting activity. Much of the ground surface on recreation areas is devoid of vegetation. The surface consists primarily of bare mineral soil, rock, or litter. The plants most commonly present are grasses. Native ground cover vegetation including tree seedlings, ericaceous shrubs and herbs has been eliminated or greatly reduced by trampling. Damage to tree trunks is common in recreation areas. White pine radial growth and scarlet oak height growth were significantly less on recreation sites. Scarlet oak appears intolerant to heavy recreation use.     

建立机动车I/M制度和排污收费制度的探讨

通过对昆明市机动车尾气治理诸多问题的思考,提出应建立I/M制度和排污收费制度来完善机动车污染控制管理体系,并进一步提出建立I/M制度和排污收费制度的具体想法。     

危险废物暂存库渗漏风险规避措施与实践

为了减少危险废物暂存库的环境风险,在项目实施中增设渗漏检测系统,通过对暂存库防渗膜进行长期的实时检测,规避了因暂存库渗漏造成的环境风险,使单层混凝土结构的暂存库实现了双层混凝土结构的遮断型填埋场才具有的渗漏检测和修补功能.渗漏检测的信息通过GSM网络进入Intemet进行数据交换,将检测信息传递到环境管理部门,提高了监督管理的水平.渗漏检测以2个检测电极间充满渗出液时电阻发生突变的特点作为HDPE膜渗漏的判据,结合渗出液的化学成分来判断渗漏的种类,利用TC35I无线模块通过GSM网进入Internet进行数据交换,实现了危险废物暂存库渗漏的网络化监测.利用HDPE膜的绝缘性提出了用偶极子检测HDPE膜漏洞的定位方法,为修补漏洞创造条件.并指出检测电压随漏洞大小、偶极子间距、贮存库液体的电阻率、供电电压的增加而增高,随偶极子距HDPE膜的距离、偶极子移动方向到漏洞的距离、暂存库液体的深度的增加而减小.     

我国南方一些土壤的钾素Q/I特性

钾素Q/I特性是表征土壤钾素状况的一个重要指标,它能同时度量土壤钾素的强度和容量。本文研究了我国南方一些土壤的钾素Q/I特性、结果表明:(1)不同土壤具有不同的Q/I曲线,它们表征不同的土壤钾素有效性和钾素状况;(2)土壤钾位缓冲容量(PBC~K)与阳离子交换量呈极显著正相关(r=0.9288),石灰土和紫色土的PBC~K值高于砖红壤、赤红壤和红壤,而ARe~K值则相反;(3)—△K°与土壤交换性钾呈极显著正相关(r=0.7870),但是具有一定含量的2:1型粘粒矿物的石灰土和紫色土,其—△K°明显低于交换性钾量,因此,lmol L~(-1)中性NH_4OAc可能会过高地估计土壤的交换性钾。     

在用车推行I/M制度的检测方法的成本效益分析

从检测性能和成本效益两方面对几种检测方法进行分析比较，并结合国内外I/M制度的实施情况和上海市的特点，建议上海市实施I/M制度时，初期对轻型汽油车采用VMAS，后期采用IM240进行检测；对轻型柴油车可采用瞬态简易工况法和Lugdown系统。     

沈阳市汽车排气检测情况及有关问题探讨

本文对沈阳市４条检车线汽车排气的检测情况做了简单介绍，并把测试数据进行了概括分析，根据实践经验提出限制汽车污染物排放的几项建议．