Prenatal diagnosis of trisomy 21 and X/XX sex chromosome mosaicism

Double aneuploidy involving Down syndrome and Turner syndrome is a rare chromosomal abnormality presumed to occur with a frequency of about 1 in 2 million births. Twenty-one cases of this combined anomaly have been reported and two infants were born with this anomaly after a mistake in prenatal diagnosis. We report the first prenatal diagnosis of Down syndrome combined with Turner mosaicism and suggest that this polysyndrome may be more common than previously estimated. We, therefore, wish to alert cytogenetic laboratories performing prenatal diagnoses of the potential risks of misdiagnosis of this polysyndrome if banding is not performed and if a sufficient number of mitotic cells are not analysed.     

Receptor modeling application framework for particle source apportionment

Receptor models infer contributions from particulate matter (PM) source types using multivariate measurements of particle chemical and physical properties. Receptor models complement source models that estimate concentrations from emissions inventories and transport meteorology. Enrichment factor, chemical mass balance, multiple linear regression, eigenvector. edge detection, neural network, aerosol evolution, and aerosol equilibrium models have all been used to solve particulate air quality problems, and more than 500 citations of their theory and application document these uses. While elements, ions, and carbons were often used to apportion TSP, PM10, and PM2.5 among many source types, many of these components have been reduced in source emissions such that more complex measurements of carbon fractions, specific organic compounds, single particle characteristics, and isotopic abundances now need to be measured in source and receptor samples. Compliance monitoring networks are not usually designed to obtain data for the observables, locations, and time periods that allow receptor models to be applied. Measurements from existing networks can be used to form conceptual models that allow the needed monitoring network to be optimized. The framework for using receptor models to solve air quality problems consists of: (1) formulating a conceptual model; (2) identifying potential sources; (3) characterizing source emissions; (4) obtaining and analyzing ambient PM samples for major components and source markers; (5) confirming source types with multivariate receptor models; (6) quantifying source contributions with the chemical mass balance; (7) estimating profile changes and the limiting precursor gases for secondary aerosols; and (8) reconciling receptor modeling results with source models, emissions inventories, and receptor data analyses.     

Particle size relationships at the Fresno Supersite

Aerosol size distributions are presented for a winter intensive study at the Fresno Supersite. The size distributions were consistent with and predictive for continuous PM2.5 measured by beta attenuation. They varied temporally with respect to source type and intensity, with the smallest mean diameters associated with high NOx concentrations during weekday morning rush hours. Conversely, small and large particle and black carbon (BC) concentrations were higher during Sunday and weekday evenings in response to traffic and residential wood combustion emissions. Ambient PM2.5 light scattering (Bsp) was precisely but systematically underestimated during winter, probably because of heating in the sample shelter.     

Chapter one: exposure measurements

Determining human exposure to suspended particulate concentrations requires measurements that quantify different particle properties in microenvironments where people live, work, and play. Particle mass, size, and chemical composition are important exposure variables, and these are typically measured with time-integrated samples on filters that are later submitted to laboratory analyses. This requires substantial sample handling, quality assurance, and data reduction. Newer technologies are being developed that allow in-situ, time-resolved measurements for mass, carbon, sulfate, nitrate, particle size, and other variables. These are large measurement systems that are more suitable for fixed monitoring sites than for personal applications. Human exposure studies need to be designed to accomplish specific objectives rather than to serve too many purposes. Resources need to be divided among study design, field sampling, laboratory analysis, quality assurance, data management, and data analysis phases. Many exposure projects allocated too little to the non-measurement activities.     

Opportunities and constraints for development and conservation: Teller County/Woodland Park growth management plan

This is the second of three articles prepared to explain the Teller County growth management process. As part of an ongoing growth management process in Teller County, Colorado, opportunities and constraints for development and conservation were identified. The scenic mountain county faces a number of issues because of growth. The recognition of those issues has resulted in the goal to direct future growth to the most appropriate and cost-effective places. To determine those places that are best for new development, thorough ecological inventories were conducted for the entire county as well as for the City of Woodland Park area. From these inventories, environmentally sensitive areas were identified. The environmentally sensitive areas were considered constraints in conducting suitability analyses for a variety of potential land uses. The suitability analyses resulted in the identification of opportunities for future growth in Teller County generally as well as the more specific Woodland Park planning area. This article, like the other two, is part of a reflective analysis by the planners who were involved. Paper 2 in a series 3.     

Scale and self-governance in agri-environment schemes: experiences with two alternative approaches in the Netherlands

Agri-environment schemes in the Netherlands have been criticized for their lack of effectiveness. Explanations were sought in the limited size of the individual farm and in the shallowness of the measures. We distinguish three scale problems: in the spatial dimension (from farm element to landscape), in the management dimension (from add-on measure to farming system) and in the governance dimension (from little to much space for self-governance by farmers). These scale concepts are used to translate insights from ecology and agro-economy to governance approaches. We analyse case studies of two new approaches: an area approach with group contracts and spatial coordination of agri-environmental measures, and a farming system with substantial adaptations of the farming concept. Both approaches have elements of increased self-governance and could offer inspiration for schemes elsewhere. We propose that appropriate space for self-governance is necessary when choosing another scale approach for making agri-environment schemes more effective.     

Moving from misinformation derived from public attitude surveys on carbon dioxide capture and storage towards realistic stakeholder involvement

Stakeholder involvement (SI) can include many activities, from providing information on a website to one-on-one conversations with people confronting an issue in their community. For carbon dioxide capture and storage (CCS), there are now quite a few surveys of public attitudes towards CCS that are being used to inform the design of SI efforts. These surveys, focused on the nascent commercial deployment of CCS technologies, have demonstrated that the general public has little knowledge about CCS—yet the surveys go on to collect what are known as “pseudo opinions” or “non-attitudes” of respondents who know little or nothing about CCS. Beyond establishing the lack of knowledge about CCS, the results of these surveys should not be relied upon by the larger CCS community and public and private decision makers to inform the critical task of implementing and executing SI activities. The paper discusses the issues involved in providing information as part of the survey, maintaining that such information is never unbiased and thus tends to produce pseudo opinions that reflect the pollster's or researcher's bias. Other content and methodological issues are discussed, leading to the conclusion that most of the survey results should be used neither as a gauge of public attitudes nor as an indication of public acceptance. Then the framing of SI in CCS is examined, including the assumptions that clear stakeholder acceptance is a realistic goal and that the public has a decisive say in choosing the energy technologies of the present and the future. Finally, a broader suite of SI activities is recommended as more suited to realistic and contextual goals.