Prenatal determination of dihydropteridine reductase in a normal fetus at risk for malignant hyperphenylalaninemia

Assay of dihydropteridine reductase in amniotic cells from a fetus at risk for malignant hyperphenylalaninemia is described. A normal result was obtained, this was confirmed after delivery. On two-dimensional polyacrylamide gel electrophoresis the enzyme from amniotic cells showed the same mobility as the mature liver reductase.     

First trimester prenatal diagnosis of Sandhoff's disease

Chorionic villus sampling was performed on two patients with a previous family history of Sandhoff's disease. Total β-hexosaminidase (Hex) activity in case 1 was within the normal range (case 1: 6365 μmol/h/g protein; control range: 3227-24 495/miol/h/g protein). The β-hexosaminidase isoenzyme pattern was found to be normal. These results were confirmed on cultured amniotic fluid cells. In case 2, the total Hex activity was 672 μmol/h/g protein, i.e., 7 per cent of the control mean (10 085 μmol/h/g protein), and chromatography demonstrated that more than 50 per cent of this activity was due to the abnormal isoenzyme β-hexosaminidase S (Hex S). The fetus was predicted to be affected by Sandhoff's disease and this was confirmed on fetal tissues after termination of pregnancy. This study demonstrates that a fetus affected by Sandhof's disease can be reliably diagnosed during the first trimester of pregnancy.     

First-trimester biochemical and molecular diagnoses using chorionic villi: High accuracy in the U.S. collaborative study

The accuracy of biochemical and molecular prenatal diagnoses using chorionic villi as the fetal source was assessed by seven centres participating in the NICHD collaborative study on the safety and accuracy of chorionic villus sampling (CVS) and amniocentesis. Of 601 pregnancies studied, biochemical methods were used to determine the diagnosis in 283 fetuses at risk for 35 different metabolic disorders. Fifteen different lysosomal storage diseases accounted for 81 per cent of the biochemical prenatal diagnoses performed, with 57 per cent of these pregnancies at risk for Tay-Sachs disease. No errors were made in the biochemical diagnoses that predicted affected or unaffected fetuses. However, the diagnoses of certain disorders (e.g., mucopolysacchariodosis type IH, metachromatic leukodystrophy, and Krabbe disease) occasionally required confirmatory studies in cultured amniocytes because the enzyme results were inconclusive in direct and/or cultured villi or due to the presence of a pseudodeficiency allele. Of these, only the diagnosis of a fetus at risk for Krabbe disease remained inconclusive after special studies to discriminate between mutant and pseudodeficiency alleles. Recombinant DNA techniques were used to predict the diagnosis of 318 fetuses at risk for 16 different disorders in which the defective disease gene could be detected either directly or by linkage analysis to a nearby polymorphic marker. Of these, 32 per cent were for haemoglobinopathies, 25 per cent for cystic fibrosis, 24 per cent for Duchenne or Becker muscular dystrophy, and 7 per cent for haemophilias. Pregnancies at risk for known disorders with specific molecular lesions (e.g., sickle cell disease) were accurately diagnosed in direct and/or cultured villi. Diagnoses requiring analyses with closely linked polymorphic markers were occasionally uninformative or inconclusive. Maternal contamination was not reported in any biochemical or molecular-based diagnosis. These studies document the high accuracy and rapidity of both biochemical and mutation-specific prenatal diagnoses with direct and cultured chorionic villi.     

Persistent organochlorine pesticides,polychlorinated biphenyls,polybrominated diphenyl ethers in fish from coastal waters off Savannah,GA, USA

Contamination profiles of organochlorine pesticides (OCPs), polychlorinated biphenyls (PCBs), and polybrominated diphenyl ethers (PBDEs) were determined in six fish species from three selected regions along coastal waters off Savannah, GA, USA. Concentrations of PCBs were predominant (12–493 ng g^?1 lw) followed by PBDEs (10–337 ng g^?1 lw), OCPs such as DDTs (2.7–153 ng g^?1 lw), chlordanes (3.8–34 ng g^?1 lw), cyclodienes (<0.1–35 ng g^?1 lw), mirex (<0.1–8.6 ng g^?1 lw), γ-hexachlorocyclohexane (<0.1–1.4 ng g^?1 lw), and hexachlorobenzene (<0.1–0.68 ng g^?1 lw). The results indicated no region-specific difference in the contaminants however inter-species as well as intra-species differences were evident. Comparison of DDTs, PCBs, and PBDEs profiles in fish with those from other countries revealed that fish from coastal waters off Savannah contained relatively less concentrations of PCBs and chlorinated pesticides, while PBDE concentrations were comparable or even higher than fish samples from other regions. Polychlorinated biphenyl congeners and chlorinated pesticide tempoal trend data exhibited no increase of contamination levels. The levels of PCBs and chlorinated pesticides in fish from Savannah coastal waters were below the Food and Drug Administrations (FDA) established limits for human consumption.     

Deposition Monitoring in Europe

A monitoring station for atmospheric deposition was designed and constructed. Three such stations were applied in a pilot project for a year on three sites (Speulder forest in The Netherlands, Auchencorth in Scotland and Melpitz in Germany) in different regions in Europe to estimate local inputs and to validate deposition models which are currently used or developed to estimate ecosystem specific deposition in Europe. Fluxes at Auchencorth Moss are lowest for all components, except for those much influenced by the sea as a source. As Melpitz is located far away from seas, these components are lowest at this site. Wet deposition is the dominant source of input at Auchencorth, whereas at Speulder forest, through its roughness and pollution climate, dry deposition is dominant. At this site dry deposition velocities are highest. Melpitz is a polluted site. Particularly sulphur deposition is high. It is recommended to equip several locations in Europe with intensive deposition monitoring methods. Such a network will be an extension of existing monitoring programmes on air pollution, such as that run by Eurepean Monitoring and Evaluation Programme for the long-range transmission of air pollutants in Europe (EMEP). The intensive monitoring locations should be selected based on pollution climates and type of vegetation, common in Europe.     

Optimizing remediation strategies for a former dry‐cleaner site

Residual tetrachloroethene (PCE) contamination at the former Springvilla Dry Cleaners site in Springfield, Oregon, posed a potential risk through the vapor intrusion, direct contact, and off‐site beneficial groundwater uses. The Oregon Department of Environmental Quality utilized the State Dry Cleaner Program funds to help mitigate the risks posed by residual contamination. After delineation activities were complete, the source‐area soils were excavated and treated on‐site with ex situ vapor extraction to reduce disposal costs. Residual source‐area contamination was then chemically oxidized using sodium permanganate. Dissolved‐phase contamination was subsequently addressed with in situ enhanced reductive dechlorination (ERD). ERD achieved treatment goals across more than 4 million gallons of aquifer impacted with PCE concentrations up to 7,800 micrograms per liter prior to remedial activities. The ERD remedy introduced electron donors and nutrient amendments through groundwater recirculation and slug injection across two aquifers over the course of 24 months. Adaptive and mass‐targeted strategies reduced total remedy costs to approximately $18 per ton within the treatment areas. © 2010 Wiley Periodicals, Inc.     

Putting humans in ecology: consistency in science and management

Normal and abnormal levels of human participation in ecosystems can be revealed through the use of macro-ecological patterns. Such patterns also provide consistent and objective guidance that will lead to achieving and maintaining ecosystem health and sustainability. This paper focuses on the consistency of this type of guidance and management. Such management, in sharp contrast to current management practices, ensures that our actions as individuals, institutions, political groups, societies, and as a species are applied consistently across all temporal, spatial, and organizational scales. This approach supplants management of today, where inconsistency results from debate, politics, and legal and religious polarity. Consistency is achieved when human endeavors are guided by natural patterns. Pattern-based management meets long-standing demands for enlightened management that requires humans to participate in complex systems in consistent and sustainable ways.     

Developing climatic scenarios for pesticide fate modelling in Europe

A climatic classification for Europe suitable for pesticide fate modelling was constructed using a 3-stage process involving the identification of key climatic variables, the extraction of the dominant modes of spatial variability in those variables and the use of k-means clustering to identify regions with similar climates. The procedure identified 16 coherent zones that reflect the variability of climate across Europe whilst maintaining a manageable number of zones for subsequent modelling studies. An analysis of basic climatic parameters for each zone demonstrates the success of the scheme in identifying distinct climatic regions. Objective criteria were used to identify one representative 26-year daily meteorological series from a European dataset for each zone. The representativeness of each series was then verified against the zonal classifications. These new FOOTPRINT climate zones provide a state-of-the-art objective classification of European climate complete with representative daily data that are suitable for use in pesticide fate modelling.     

The influence of nitrogen in stemflow and precipitation on epiphytic bryophytes, Isothecium myosuroides Brid., Dicranum scoparium Hewd. and Thuidium tamariscinum (Hewd.) Schimp of Atlantic oakwoods

The spatial relationship between the concentration and deposition of the major ions in precipitation and stemflow and their influence on the tissue nitrogen concentration of three epiphytic bryophytes on Quercus petraea (Matt) Liebl. and Q. robur L. was investigated at seven UK Atlantic oak woodland sites with a range of total N deposition of 55-250mmolm(-2). The main driver of change in tissue N concentrations of three epiphytic bryophytes (Isothecium myosuroides Brid. (Eurhynchium myosuroides (Brid.) Schp.), Dicranum scoparium Hewd. and Thuidium tamariscinum (Hewd.) Schimp.) was total N deposition in stemflow, dominated by ammonium deposition. The three epiphytic species also showed strong relationships between tissue N concentration and total N deposition in rainfall but a poor correlation with total N ion concentration in rainfall. This study shows that epiphytic bryophytes utilise stemflow N and thus increase their risk from inputs of total N deposition compared to terricolous species at the same site.