Molecular analysis of genomic DNA allows rapid,and accurate,prenatal diagnosis of peroxisomal D-bifunctional protein deficiency

Prenatal diagnosis was requested for a couple with a previous child affected by the peroxisomal disorder D-bifunctional protein deficiency. Prior analysis of the D-bifunctional protein cDNA sequence from the propositus had shown that it was missing 22 bp. This was subsequently attributed to a point mutation in the intron 5 donor site (IVS5+1G>C) of the D-bifunctional protein gene. Consistent with parental consanguinity, the patient was shown to be homozygous for this mutation, which is associated with loss of a Hph 1 restriction site in the genomic sequence. Prenatal testing of the fetus using genomic DNA isolated from uncultured amniocytes indicated that both alleles of the D-bifunctional protein had the IVS5+1G>C substitution. The peroxisomal defect was later confirmed biochemically using cultured amniocytes, which were found to have elevated levels of very long chain fatty acids (VLCFA). This is the first report of prenatal diagnosis of D-bifunctional protein deficiency using molecular analysis of genomic DNA. Copyright © 2002 John Wiley & Sons, Ltd.     

一个从酸化和金属污染中恢复的湖泊历史悠久的水蚤属(Daphnia)群落的重现

通过综合采用古湖泊学技术和分子遗传技术重现汉纳(Hannah)湖--个从工业酸化、金属污染及动物灭绝中恢复的湖泊--中水蚤属(Daphnia)群落组成的长期型式.像许多浮游动物一样,水蚤属可以产出能生存几十年,甚至一百年以上的滞育卵.然而,过去20年D.mendotae在汉纳湖中的出现可能是从其他附近湖泊扩散的结果,而不是从沉积物卵库移居而来的.我们利用聚合酶连锁反应(PCR),单股构象多形现象(SSCP)以及排序进行的成因测试结果表明,D.mendotae滞育卵在过去250年沉积物记录中没有发现,在该地区金属冶炼作业之前,该生物群落由D.pulicaria控制.在湖泊化学复原之后这一物种的变化与早期湖泊酸性的历史变化一致.在汉纳湖的整个远古历史中,环境波动可能决定了群落组成.将这一分子一古湖泊学方法扩展到其他湖泊应该有助于更准确地阐述生物复原过程.     

Water-soluble fractions of composts for the photodegradation of organic pollutants in solar light

Composts fractions were extracted by water from composts at the beginning and at the end of the composting process. These water extracts were characterized by elementary analysis and spectroscopies, and then, tested for their capacity to photosensitize the degradation of three aromatic compounds: Irgarol, fenuron, and 2,4,6-trimethylphenol. In solar light, the water extracts (25 mg/l) were found to completely degrade 2,4,6-trimethylphenol after 24 h, and afford a transformation of fenuron and Irgarol of 25% and 18%, respectively.An erratum to this article can be found at     

Community response patterns: evaluating benthic invertebrate composition in metal-polluted streams.

Human activities are modifying the condition and character of ecosystems at a rapid rate. Because of these rapid changes, questions concerning how ecosystems and their assemblages respond to anthropogenic stressors have been of general interest. Accurate prediction of assemblage composition in ecosystems with anthropogenic degradation requires that we assess both how assemblages respond to stressors and the generality of the responses. We ask whether assemblage composition among stream sites becomes more similar after exposure to a common stressor. Using data from biological monitoring programs in the southern Rocky Mountain ecoregion of Colorado and in West Virginia, we compare benthic invertebrate similarity and assemblage composition among sites having different levels (background, low, medium, and high) of heavy-metal pollution. Invertebrate assemblages were most similar within the background metal category, and similarity was progressively lower in low, medium, and high metal categories. An analysis of the frequency of occurrence of genera within metal categories reveals taxonomic shifts that conform to expectations based on metal tolerance of benthic invertebrates. However, different metal-tolerant genera were found at different metal-impacted sites, suggesting that local abiotic and biotic processes may influence the identity of the metal-tolerant genera that become established in polluted sites. Low community similarity in the medium and high-metal categories suggests that accurate prediction of assemblage composition at impacted sites may be challenging.     

Assessment of municipal waste compost as a daily cover material for odour control at landfill sites

The ability of municipal waste compost as a daily cover material to reduce the odorous emissions associated with landfill surfaces was investigated. Trials were carried out using landfill gas, a certified sulphurous gas mix and ambient air as a control. Odorous gas was passed through portable test column filled with compost at different densities (590 kg/m3 and 740 kg/m3). Gas samples were taken from the inlet, outlet and at varying column depths and examined using a combination of sensory analysis (olfactometry) and a novel analytical method (Transportable Selected Ion Flow Tube--TSIFT). Results for the trials using landfill gas showed a 69% odour reduction (OU/m3) through the column for compost with a bulk density of 590 kg/m3, and a reduction of 97% using compost with a bulk density of 740 kg/m3. TSIFT analysis showed an overall decrease in the concentration of terpenes, and sulphurous compounds in the outlet gas from the column for both bulk densities. No significant trend could be identified for the concentrations at different depths within the column. Results show the ability of compost to reduce landfill odours under differing conditions. The inconclusive data provided by TSIFT analysis may be due to the analysis of compounds that are not contributing to odour, and thus highlights the potential for synergetic effects and the importance of sensory measurement when examining odorous emissions.     

Distribution of mercury in the tissues of five species of freshwater fish from Lake Mead, USA

Total mercury (Hg) concentrations were determined in seven tissues (skeletal muscle, liver, blood, gonad, brain, gill, and heart) of 59 striped bass and four tissues (muscle, liver, blood, and gonad) of 69 largemouth bass, 76 channel catfish, 12 bluegill, and 22 blue tilapia collected from Lake Mead, USA. Mercury levels generally increased according to trophic level and fish length. For striped bass, mean Hg levels (ng g(-1), wet mass) were highest in the liver (531), followed by muscle (309), heart (186), gonad (136), brain (77), gill (52), and blood (36). Similarly, Hg levels in the catfish and tilapia were liver > muscle > gonad > blood. In contrast, largemouth bass and bluegill had the highest levels in muscle, followed by liver, gonad, and blood. Generally, Hg levels were strongly correlated among the tissues, especially for blood/muscle and blood/liver. As the body burden of Hg increased, the concentration in blood and organs increased relative to the concentration in muscle. The trend was most pronounced for the liver. These relationships could form the basis of a predictive model and suggest that blood and muscle (plugs) could be useful for a non-lethal measure of Hg concentration and exposure in fish. For the striped bass, elevated Hg levels in the tissues were also correlated with degree of emaciation. Liver-to-muscle ratios were similar to literature values, except for tilapia with an average ratio of approximately 1.7, which is higher than generally reported for non-piscivores. Finally, this study demonstrates the usefulness of a solid sampling approach in trace element monitoring, especially as pertaining to in vivo analysis, analysis of a large number of samples and reduction of contamination risk.     

Use of alternating current for colored water purification by anodic oxidation with SS/PbO2 and Pb/PbO2 electrodes

Environmental Science and Pollution Research - This paper suggests a new alternative for the acceleration of dye removal by adopting alternating current instead of direct current in the treatment...     

Morphological classification of bioaerosols from composting using scanning electron microscopy

This research classifies the physical morphology (form and structure) of bioaerosols emitted from open windrow composting. Aggregation state, shape and size of the particles captured are reported alongside the implications for bioaerosol dispersal after release. Bioaerosol sampling took place at a composting facility using personal air filter samplers. Samples were analysed using scanning electron microscopy. Particles were released mainly as small (<1 μm) single, spherical cells, followed by larger (>1 μm) single cells, with aggregates occurring in smaller proportions. Most aggregates consisted of clusters of 2–3 particles as opposed to chains, and were <10 μm in size. No cells were attached to soil debris or wood particles. These small single cells or small aggregates are more likely to disperse further downwind from source, and cell viability may be reduced due to increased exposure to environmental factors.     

Evaluations of combined zebrafish (Danio rerio) embryo and marine phytoplankton (Diacronema lutheri) toxicity of dissolved organic contaminants in the Ythan catchment,Scotland, UK

A wide variety of organic contaminants including pesticides, polycyclic aromatic hydrocarbons (PAHs) and polychlorinated biphenyls (PCBs) have previously been detected in surface waters in the river Ythan catchment, North East Scotland UK. While the concentrations detected were below Water Framework Directive Environmental Quality Standards (WFD-EQSs) environmental exposures to the diverse mixtures of contaminants, known and unknown, may pose chronic and/or sublethal effects to non target organisms. The present study assessed the embryo and algal toxicity potential of freely dissolved organic contaminants from the Ythan catchment using silicone rubber passive sampling devices (SR-PSDs) and miniaturised bioassay techniques. Zebrafish (Danio rerio) embryos and marine phytoplankton species (Diacronema lutheri) were exposed to extracts from SR-PSDs deployed at different locations along the river Ythan and an undeployed procedural blank. Statistically significant developmental and algal toxicities were measured in all tests of extracts from deployed samples compared with the procedural blanks. This indicates environmental exposure to, and the combined toxicity potential of, freely dissolved organic contaminants in the catchment. The present and previous studies in the Ythan catchment, coupling SR-PSDs and bioassay techniques, have both helped to understand the interactions and combined effects of dissolved organic contaminants in the catchment. They have further revealed the need for improvement in the techniques currently used to assess environmental impact.