Early prenatal diagnosis of the fragile site AT Xq27.3 associated with Martin-Bell syndrome

Early prenatal diagnosis of the fragile X was attempted in 44 pregnancies, including one twin pregnancy at risk of Martin-Bell (MB) syndrome. The sex ratio was 24M:21F. The fragile site was reproducibly demonstrated in cultured chorionic villus (CV) cells in eight male and five female fetuses. Six of the male and three of the female fetuses were terminated. Simultaneous RFLP analysis provided confirmative data with flanking DNA markers in 3 of 13 analysed cases. Recombination and/or non-informativeness at available distal and/or proximal loci were found in nine cases. In one male fetus, discordance between the haplotype and cyto-genetics (fragile-X-negative) suggested the presence of a normal male transmitter, a double meiotic cross-over within the region, or a false-negative cytogenetic diagnosis. However, discordance between prenatal and post-termination/postnatal cytogenetic findings was not observed in this series. The use of excess thymidine for induction of the fragile X in cultured CV cells provided in the majority of cases a safe and rapid method for cytogenetic diagnosis, with options for early induced termination in fragile-X-positive pregnancies, for simultaneous RFLP analysis, and for subsequent second-trimester analysis of fetal blood in complicated cases.     

Atmospheric methylchloride (CH3Cl)

A global time series of atmospheric methylchloride (CH₃Cl) concentrations is reported showing the variability with latitude and season. Springtime concentrations of CH₃Cl at 45°N latitude are 7.5%±3.5% higher than during other seasons. Lowest concentrations were generally observed during fall. CH₃Cl was found to be more abundant by about 6% (±5% NH, ±3% SH) in the tropical regions of both hemispheres. No significant difference in the burdens of CH₃Cl was observed between the two hemispheres. Based on these data the ratio of the average hydroxyl radical (HO) concentration over the southern hemisphere to that over the northern hemisphere was estimated to be 1.3 or less.     

A dynamical approach to evaluate risk in resource management.

With the depletion of many natural resources, we are growing aware of the need to understand the risks that stem from different management decisions. Here, we outline an approach to test the ability of different dynamical signatures to characterize time-series data: how likely is it that a natural population is declining, sustainable, or increasing, and at what rates are these temporal changes likely occurring? These dynamical signatures can serve as a robust foundation on which to formulate alternative scenarios in a decision analysis. They take account of much of the uncertainty in model parameters and have precise mathematical underpinnings with associated risks. We present methods to evaluate the likelihood of these scenarios, and ways that the analysis can be graphically represented. We discuss different ecological factors such as climate variability, life history, ecosystem interactions, and a changing population age structure, all of which impact the dynamics of natural populations. Considering the types of dynamical signatures that emerge from these factors can change our understanding of risk and the decisions that we make.     

Registration of polymers in accordance with directive 67/548/EEC

This paper clarifies how polymers are dealt with under the Directive 67/548/EEC. Polymers are a particular group of substances under the Directive 67/548/EEC [1] and amendments [2,3] as they are not listed in the European INventory of Existing Commercial chemical Substances (EINECS [4]) which otherwise lists all substances which were on the European Community Market between 1 January 1971 and 18 September 1981, the ‘existing substances’. Instead, in EINECS polymers are registered under their ultimate building blocks. With the 6th amendment to the Directive [2] polymers became notifiable substances if containing 2% or more of new substance(s) (i.e. as a general rule substances not listed in EINECS), and the reporting criteria were used as definition. With the 7th amendment to the Directive [3] an exact definition was introduced and a special test package, given in Directive 93/105/EEC [5], was designed for polymers to take into account their particular properties. Changing the definition of polymers created a group of substances which under the 6th amendment had been defined as polymers, and could no longer be regarded as polymers under the 7th amendment, the No‐Longer‐Polymers.     

NMOC,ozone, and organic aerosol in the southeastern United States, 1999–2007: 1. Spatial and temporal variations of NMOC concentrations and composition in Atlanta,Georgia

Volatile organic compounds (VOCs) are emitted from anthropogenic and natural (biogenic) sources into the atmosphere. Characterizing their ambient mixing ratios or concentrations is a challenge because VOCs comprise hundreds of species, and accurate measurements are difficult. Long-term hourly and daily-resolution data have been collected in the metropolitan area of Atlanta, Georgia, a major city dominated by motor vehicle emissions. A series of observations of daily, speciated C₂–C₁₀ non-methane organic compounds (NMOC) and oxygenated hydrocarbons (OVOC) in mid-town Atlanta (Jefferson Street, JST) are compared with data from three urban-suburban sites and a nearby non-urban site. Annual-average mixing ratios of NMOC and OVOC at JST declined from 1999 through 2007. Downward trends in NMOC, CO, and NO_y corroborate expected emission changes as reflected in emission inventories for Atlanta’s Fulton County. Comparison of the JST NMOC composition with data from roadside and tunnel sampling reveals similarities to motor vehicle dominated samples. The JST annual average VOC-OH reactivities from 1999 to 2007 were relatively constant compared with the decline in annual-average NMOC mixing ratios. Mean reactivity at JST, in terms of concentration*k_OH, was approximately 40% alkenes, 22% aromatics, 16% isoprene and 6% other biogenics, 13% C₇–C₁₀ alkanes and 3% C₂-C₆ alkanes, indicating that biogenic NMOCs are important but not dominant contributors to the urban reactive NMOC mix. In contrast, isoprene constituted ～50% of the VOC-OH reactivities at two non-urban sites. Ratios of 24-hour average CO/benzene, CO/isopentane, and CO/acetylene concentrations indicate that such species are relatively conserved, consistent with their low reactivity. Ratios of more-reactive to less-reactive species show diurnal variability largely consistent with expected emission patterns, transport and mixing of air, and chemical processing.     

Inventory methods for trees in nonforest areas in the great plains states

The US Forest Service’s Forest Inventory and Analysis (FIA) program collects information on trees in areas that meet its definition of forest. However, the inventory excludes trees in areas that do not meet this definition, such as those found in urban areas, in isolated patches, in areas with sparse or predominantly herbaceous vegetation, in narrow strips (e.g., shelterbelts), or in riparian areas. In the Great Plains States, little is known about the tree resource in these noninventoried, nonforest areas, and there is a great deal of concern about the potential impact of invasive pests, such as the emerald ash borer. To address this knowledge gap, FIA’s National Inventory and Monitoring Applications Center has partnered with state cooperators and others in a project called the Great Plains Initiative to design and implement an inventory of trees in nonforest areas. The goal of the inventory is to characterize the nonforest tree resource using methods compatible with those of FIA so a holistic understanding of the resource can be obtained by integrating the two surveys. The goal of this paper is to describe the process of designing and implementing the survey, including plot and sample design, and to present some example results from a reporting tool we developed.     

Echoes from the Past: A Healthy Baltic Sea Requires More Effort

Integrated sediment multiproxy studies and modeling were used to reconstruct past changes in the Baltic Sea ecosystem. Results of natural changes over the past 6000 years in the Baltic Sea ecosystem suggest that forecasted climate warming might enhance environmental problems of the Baltic Sea. Integrated modeling and sediment proxy studies reveal increased sea surface temperatures and expanded seafloor anoxia (in deep basins) during earlier natural warm climate phases, such as the Medieval Climate Anomaly. Under future IPCC scenarios of global warming, there is likely no improvement of bottom water conditions in the Baltic Sea. Thus, the measures already designed to produce a healthier Baltic Sea are insufficient in the long term. The interactions between climate change and anthropogenic impacts on the Baltic Sea should be considered in management, implementation of policy strategies in the Baltic Sea environmental issues, and adaptation to future climate change.     

The Significance of the North Water Polynya to Arctic Top Predators

The North Water polynya (~76°N to 79°N and 70°W to 80°W) is known to be an important habitat for several species of marine mammals and sea birds. For millennia, it has provided the basis for subsistence hunting and human presence in the northernmost part of Baffin Bay. The abundance of air-breathing top predators also represents a potential source of nutrient cycling that maintains primary production. In this study, aerial surveys conducted in 2009 and 2010 were used for the first time to map the distribution and estimate the abundance of top predators during spring in the North Water. Belugas (Delphinapterus leucas) were not detected north of 77°20′N but were found along the coast of West Greenland and offshore in the middle of the North Water with an abundance estimated at 2245 (95 % CI 1811–2783). Narwhals (Monodon monoceros) were widely distributed on the eastern side of the North Water with an estimate of abundance of 7726 (3761–15 870). Walruses (Odobenus rosmarus) were found across the North Water over both shallow and deep (>500 m) water with an estimated abundance of 1499 (1077–2087). Bearded (Erignathus barbatus) and ringed seals (Phoca hispida) used the large floes of ice in the southeastern part of the North Water for hauling out. Most polar bears (Ursus maritimus) were detected in the southern part of the polynya. The abundances of bearded and ringed seals were 6016 (3322–10 893) and 9529 (5460–16 632), respectively, and that of polar bears was 60 (12–292). Three sea bird species were distributed along the Greenland coast (eiders, Somateria spp.), in leads and cracks close to the Greenland coast (little auks, Alle alle) or widely in open water (thick-billed guillemots, Uria lomvia).     

Windsor, Ontario exposure assessment study: design and methods validation of personal, indoor, and outdoor air pollution monitoring

The Windsor, Ontario Exposure Assessment Study evaluated the contribution of ambient air pollutants to personal and indoor exposures of adults and asthmatic children living in Windsor, Ontario, Canada. In addition, the role of personal, indoor, and outdoor air pollution exposures upon asthmatic children's respiratory health was assessed. Several active and passive sampling methods were applied, or adapted, for personal, indoor, and outdoor residential monitoring of nitrogen dioxide, volatile organic compounds, particulate matter (PM; PM-2.5 pm [PM2.5] and < or =10 microm [PM10] in aerodynamic diameter), elemental carbon, ultrafine particles, ozone, air exchange rates, allergens in settled dust, and particulate-associated metals. Participants completed five consecutive days of monitoring during the winter and summer of 2005 and 2006. During 2006, in addition to undertaking the air pollution measurements, asthmatic children completed respiratory health measurements (including peak flow meter tests and exhaled breath condensate) and tracked respiratory symptoms in a diary. Extensive quality assurance and quality control steps were implemented, including the collocation of instruments at the National Air Pollution Surveillance site operated by Environment Canada and at the Michigan Department of Environmental Quality site in Allen Park, Detroit, MI. During field sampling, duplicate and blank samples were also completed and these data are reported. In total, 50 adults and 51 asthmatic children were recruited to participate, resulting in 922 participant days of data. When comparing the methods used in the study with standard reference methods, field blanks were low and bias was acceptable, with most methods being within 20% of reference methods. Duplicates were typically within less than 10% of each other, indicating that study results can be used with confidence. This paper covers study design, recruitment, methodology, time activity diary, surveys, and quality assurance and control results for the different methods used.     

Soil-Atmosphere exchange of radiatively and chemically active gases

Exchanges between the soils and the atmosphere may control or significantly affect the global budgets of many environmentally important trace gases, both natural and man-made. Flux measurements, taken in several ecosystems, show that soils are a substantial source of chloroform (8 ± 4 μg/m²/d) and a sink for methyl chloride (-10 _-3 ⁺⁶ μg/m²/d). The known sources and sinks of these gases are insufficient to explain the observed concentrations. Our findings will help to balance the global budget of chloroform but may put the budget of methyl chloride further out of balance. We also found, consistent with previous research, that soils are a substantial source of nitrous oxide and carbon monoxide and take up hydrogen and methane. The uptake of man-made chlorocarbons was observed, but the rates are small. Observed fluxes of non-methane hydrocarbons showed few patterns except that soils may be a source of ethane and butane.