Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a potentially fatal inherited disease with a carrier frequency of approximately 1:100 in most Caucasian populations. The disease is implicated in sudden unexpected death in childhood. A prevalent disease-causing point mutation (A985G) in the MCAD gene has been characterized, thus rendering diagnosis easy in the majority of cases. Since the clinical spectrum of MCAD deficiency ranges from death in the first days of life to an asymptomatic life, there are probably other genetic factors—in addition to MCAD mutations—involved in the expression of the disease. Thus, families who have experienced the death of a child from MCAD deficiency might have an increased risk of a seriously affected subsequent child. In such a family we have therefore performed a prenatal diagnosis on a chorionic villus sample by a highly specific and sensitive polymerase chain reaction (PCR) assay for the G985 mutation. The analysis was positive and resulted in abortion. We verified the diagnosis by direct analysis on blood spots and other tissue material from the aborted fetus and from family members.     

Prenatal diagnosis of the hurler syndrome: Report on 40 pregnancies at risk

In 40 pregnancies at risk for the Hurler syndrome 13 affected fetuses were detected by the demonstration of an α-L -iduronidase deficiency and an increased level of ³⁵S-sulphate incorporation. The diagnoses were confirmed by the analysis of fetal tissues and/or cultured fetal skin fibroblasts. Microassays for α-L -iduronidase, using phenyl α-L -iduronide and more recently 4–methyl-umbelliferyl α-L -iduronide, enabled a reliable diagnosis to be made within 15 to 18 days after amniocentesis. ³⁵S-sulphate incorporation has been a valuable adjunct in cases with a low (heterozygote) enzyme activity.     

Fetal translocation between chromosomes 2, 18, and 21 resolved by fish

An apparently balanced t(2q;21q) translocation was discovered in fetal blood and amniocytes of a 22-week fetus, monitored because of ultrasonographic evidence of a heart disease. FISH (fluorescence in situ hybridization) analysis disclosed a complex translocation between chromosomes 2q, 18q, and 21q, which was inherited from the healthy mother. This observation corroborates the usefulness of molecular cytogenetic techniques in raising the quality of prenatal diagnosis and detecting subtle rearrangements not resolved by standard cytogenetics.     

Prenatal diagnosis of 21-hydroxylase deficiency by rflp analysis of the 21-hydroxylase,complement C4, and HLA class II genes

In 19 pregnancies at risk for 21-hydroxylase deficiency (21OHD) in 18 families with at lea one affected child, prenatal diagnosis was performed by RFLP analysis using the enzymi Taq I and EcoRI and the DNA probes specific for the 21 OH genes, the closely linke complement C4 genes and the highly polymorphic HLA class II genes DRB, DQB, and DPI For fetal DNA analysis either chorionic villi or cultivated amniotic cells were used. In all 1 cases, a clear prenatal diagnosis was possible either with the 21OH probe alone or in mo cases, by combining the results of the different closely linked loci.     

氮磷同时缺乏对活性污泥系统的影响

为了考察氮磷同时缺乏对活性污泥系统的影响,采用2个序批式间歇反应器（SBR）,按照缺氧/好氧的方式平行运行,通过调节不同的进水COD/N/P比,考察了氮磷同时缺乏状态下活性污泥系统的污泥沉降性、絮体形态、出水水质以及比耗氧速率等方面的表现。结果表明,在氮磷同时缺乏时,当进水COD/N/P比为100/2/0.4时,活性污泥系统会发生丝状菌膨胀,而当进水COD/N/P为100/0.5/0.1时,污泥沉降性保持良好;各反应器的活性污泥浓度均在逐渐地下降,MLSS由约2200mg/L下降至1800mg/L以下;各反应器的比耗氧速率均呈现逐渐上升的趋势,COD的去除率呈现逐渐下降的趋势。     

低溶解氧和磷缺乏引发的非丝状菌污泥膨胀及控制

针对污泥培养过程中出现的非丝状菌污泥膨胀,分析了发生膨胀后污泥的特征、性状及其降解污染物性能.反应器中低溶解氧浓度（0～0.7mg/L）和低P/BOD₅值(0.78/100) 2种因素共同作用导致污泥膨胀.污泥胞外多聚糖含量越高,污泥憎水性越小,SVI也越高.通过提高溶解氧浓度和P/BOD₅值,可使污泥沉降性能得到恢复.此外,向膨胀污泥中投加多孔填料,在不降低处理效能的情况下,很快使系统免受污泥沉降性能恶化的困扰,而向膨胀污泥中投加强氧化剂NaClO并不能有效控制污泥膨胀.     

Spatial Characterization and Prioritization of Heavy Metal Contaminated Soil-Water Resources in Peri-Urban Areas of National Capital Territory (NCT), Delhi

Due to rapid industrialization and urbanization during last two decades, contamination of soils by heavy metals is on an increase globally. Lands under peri-urban agriculture are the worst affected. In NCT, Delhi about 14.4% of land area is chemically degraded. In order to take care of this problem, recently the Supreme Court of India ordered to shift various non-confirming (about 39,000 units) industries to regions outside NCT, Delhi. However in spite of this, there have been several reports and parliamentary debates on the phyto-toxicity and extensive accumulation of heavy metals in the region. Literature review revealed that the basis of these debates is a few studies on some point locations in/around Delhi. It was further observed that information on the distribution and extent of heavy metal pollution problem in the region was completely missing. The present study was thus basically aimed at assessing the spatial distribution/extent and type of heavy metal pollution in the study area, for enabling future designing of appropriate site-specific management measures by the decision makers.For this, detailed spatial information on bio-available heavy metal concentrations in the soils and surface/sub-surface waters of NCT (Delhi) was generated through actual soil/water surveys, standard laboratory methods and GIS techniques. The study showed that concentration of all micronutrients (viz. Zn: 0.05–0.18 ppm; Cu: in traces; Fe: 0–0.5 ppm; and Mn: 0–1.2 ppm) and most heavy metals (viz. Ni: 0–0.7 ppm; Pb: 0–0.15 ppm and Cd: in traces) in the surface/sub-surface irrigation waters were well within permissible limits. However Cr concentrations in irrigation waters of Alipur and Shahdara blocks were far above their maximum permissible limit of 1 ppm. It was further observed that Ni and Cr concentrations in the drinking waters of almost entire test area were far above maximum permissible levels of 0.02 and 0.01 ppm, respectively. Bio-available concentrations of several heavy metals (viz. Pb: 0.1–2 ppm; Cd: traces; Ni: 0.05–2 ppm and Cr: 0–0.4 ppm) in the study area soils were also observed to be well within the maximum permissible limits. However there were point Cu contaminations (5–10 ppm) in the sewage-sludge amended soils of vegetable growing areas near south Shahdara block. This was attributed to increased Cu availability due to oxidized acidic conditions generated by over-irrigation of agricultural lands. Available Mn concentrations in Kanjhawala, western Najafgarh and Alipur soils were also observed to be above maximum permissible limit of 10 ppm. This was observed to be mainly due to the geology (i.e. presence of Mn rich sedimentary rocks) and prevalence of reduced acidic conditions, due to paddy cultivation, in these areas. It was further observed that there is acute zinc (Zn) deficiency (< 0.6 ppm) in paddy growing soils of north Kanjhawala, Alipur and some parts of Najafgarh and Shahdara blocks due to extensive leaching of available Zn fractions to lower soil horizons. Similar available Zn deficiencies in high pH (8.5) soils of areas around Bamnoli village in E-Najafgarh block were also observed.     

基于智能优化算法的河流水质模型参数的优化简

为探索河流水质模型参数新的求解方法,根据有限的实测数据,分别应用免疫进化优化算法和免疫进化优选的捕食搜索算法,对河流水质模型计算公式中的多参数进行优化。将优化得到的计算公式用于国内外若干河流的河段中DO浓度值的拟合,并与实测结果进行了比较。结果表明,将免疫进化优化算法或免疫进化优选的捕食搜索算法优化得到的水质模型参数精度不仅较高,而且相对稳定,从而为河流水质模型参数的优化提供了一种新方法。     

基于人工免疫原理的事故预防研究

介绍生物免疫识别模式,分析事故预防过程的实质是抑制潜在危险转化成事故的控制过程,分析比较事故预防与生物免疫识别模式在作用、生存环境、动作触发源等的共性,构建了基于免疫识别模式的事故预防系统并建立了事故预防数学模型;定义事故预防系统的识别率、失效率、误判率并给出了数学表达式,指出监测生产系统各环节状态信息是否符合系统的安全要求就是识别潜在危险的过程,是事故预防的关键,基于人工免疫原理的事故预防数学模型具有较强的健壮性、自适应性和动态防护性等特点。