Prenatal diagnosis of neurofibromatosis type 1: From flanking rflps to intragenic microsatellite markers

Even though the neurofibromatosis type 1 (NF1) gene was cloned more than 3 years ago, the process of identifying mutations has not been fruitful, and genetic counselling is mainly based on the use of linked markers. Since 1990, we have analysed 130 NF1 families and have performed six prenatal diagnoses. In each case, genetic counselling has relied on linked markers and informativity was achieved in all of them. The use of intragenic microsatellite polymorphisms (IVS27AAAT2.1, IVS27AC28.4, IVS27AC33.1, and IVS38GT53.0) has increased the informativeness in our series of NF1 families to an average of 90 per cent, providing accurate diagnosis and confirmation of the disease status.     

Prenatal diagnosis of cleft lip and palate by ultrasound

Bilateral cleft lip and cleft palate can be diagnosed by ultrasonography prior to 20 weeks of pregnancy. The anomaly produces an abnormal facial profile and, on cross-section, the clefts in the maxilla are demonstrable. The method is illustrated by sonograms from a fetus in which the defect was diagnosed before trisomy 13 became known by karyotyping.     

PREDICTING FECAL COLIFORM BACTERIA LEVELS IN THE CHARLES RIVER,MASSACHUSETTS, USA1

In Massachusetts, the Charles River Watershed Association conducts a regular water quality monitoring and public notification program in the Charles River Basin during the recreational season to inform users of the river's health. This program has relied on laboratory analyses of river samples for fecal coliform bacteria levels, however, results are not available until at least 24 hours after sampling. To avoid the need for laboratory analyses, ordinary least squares (OLS) and logistic regression models were developed to predict fecal coliform bacteria concentrations and the probabilities of exceeding the Massachusetts secondary contact recreation standard for bacteria based on meteorological conditions and streamflow. The OLS models resulted in adjusted R²s ranging from 50 to 60 percent. An uncertainty analysis reveals that of the total variability of fecal coliform bacteria concentrations, 45 percent is explained by the OLS regression model, 15 percent is explained by both measurement and space sampling error, and 40 percent is explained by time sampling error. Higher accuracy in future bacteria forecasting models would likely result from reductions in laboratory measurement errors and improved sampling designs.     

On measuring wealth: a case study on the state of Queensland

In order for policy makers to plan effectively for sustainable development, there is a need for measures of welfare that consider changes in the natural capital stock. Current measures based on conventional national accounting are flawed because they are based solely on flow measures and do not account for environmental effects. In this paper, we use an expanded measure of wealth to estimate the value of natural capital for Queensland. The state's stock of natural capital is valued at A dollar 355.6 billion, of which non-timber forest resources account for 45.3%, ecosystem services 20.0%, and mineral resources 17.6%. This figure is a conservative estimate of the true value since some significant components such as the ecological and life-support functions of the environment are excluded. The estimates highlight the relative importance of different forms of natural capital and can be used to draw the attention of policymakers to the need to give adequate weight to the value of such services in decision-making processes.     

Recycling of high purity selenium from CIGS solar cell waste materials

Copper indium gallium diselenide (CIGS) is a promising material in thin film solar cell production. To make CIGS solar cells more competitive, both economically and environmentally, in comparison to other energy sources, methods for recycling are needed. In addition to the generally high price of the material, significant amounts of the metals are lost in the manufacturing process. The feasibility of recycling selenium from CIGS through oxidation at elevated temperatures was therefore examined. During oxidation gaseous selenium dioxide was formed and could be separated from the other elements, which remained in solid state. Upon cooling, the selenium dioxide sublimes and can be collected as crystals. After oxidation for 1 h at 800 °C all of the selenium was separated from the CIGS material. Two different reduction methods for reduction of the selenium dioxide to selenium were tested. In the first reduction method an organic molecule was used as the reducing agent in a Riley reaction. In the second reduction method sulphur dioxide gas was used. Both methods resulted in high purity selenium. This proves that the studied selenium separation method could be the first step in a recycling process aimed at the complete separation and recovery of high purity elements from CIGS.     

The effect of an active steering system on city bus drivers’ muscle activity

City bus drivers spend hours driving under time pressure, in congested traffic and in a monotonous sitting position. This leads to unhealthy working conditions, especially in terms of physical and psychological stress. The aim of this study is to investigate whether an active steering system can alleviate the musculoskeletal stress involved in manoeuvring a bus. Twenty bus drivers drove a city bus equipped with the Volvo dynamic steering (VDS) support system in real traffic. Steering effort was evaluated with electromyography and with a questionnaire. Compared to baseline, VDS significantly reduced the required muscle activity by on average 15–25% while turning, and up to 68% in the part of the manoeuvre requiring maximum effort. The bus drivers believed that VDS will help reduce neck and shoulder problems, and they expressed a desire to have VDS installed in their own bus.     

Review of LCA studies of solid waste management systems – Part I: Lessons learned and perspectives

The continuously increasing solid waste generation worldwide calls for management strategies that integrate concerns for environmental sustainability. By quantifying environmental impacts of systems, life cycle assessment (LCA) is a tool, which can contribute to answer that call. But how, where and to which extent has it been applied to solid waste management systems (SWMSs) until now, and which lessons can be learnt from the findings of these LCA applications? To address these questions, we performed a critical review of 222 published LCA studies of SWMS. We first analysed the geographic distribution and found that the published studies have primarily been concentrated in Europe with little application in developing countries. In terms of technological coverage, they have largely overlooked application of LCA to waste prevention activities and to relevant waste types apart from household waste, e.g. construction and demolition waste. Waste management practitioners are thus encouraged to abridge these gaps in future applications of LCA. In addition to this contextual analysis, we also evaluated the findings of selected studies of good quality and found that there is little agreement in the conclusions among them. The strong dependence of each SWMS on local conditions, such as waste composition or energy system, prevents a meaningful generalisation of the LCA results as we find it in the waste hierarchy. We therefore recommend stakeholders in solid waste management to regard LCA as a tool, which, by its ability of capturing the local specific conditions in the modelling of environmental impacts and benefits of a SWMS, allows identifying critical problems and proposing improvement options adapted to the local specificities.     

Assessment of soils contamination with veterinary antibiotic residues in Northern Poland using developed MAE-SPE-LC/MS/MS methods

Among the wide range of compounds reaching the soil are the veterinary antimicrobials. Since no regulations regarding acceptable levels of drug concentrations in the environment exist, monitoring tests, particularly concerning soils, are carried out very rarely. This study presents a preliminary assessment of the contamination of agricultural soils in Northern Poland with seven antimicrobial veterinary medicines which has never been carried out before. Veterinary drugs were detected in 54% of the examined soil samples; the most commonly detected drugs were sulfonamides and trimethoprim. The highest indicated concentrations refer to enrofloxacin (57.0 μg kg^?1) and trimethoprim (47.8 μg kg^?1). The presence of these target drugs in the soil environment confirms the need for further monitoring studies. The analytical methods developed in this study are an excellent tool to achieve this goal and allow an estimation of the risk connected with the presence of veterinary antimicrobials in soils.

     

Review of LCA studies of solid waste management systems – Part II: Methodological guidance for a better practice

Life cycle assessment (LCA) is increasingly used in waste management to identify strategies that prevent or minimise negative impacts on ecosystems, human health or natural resources. However, the quality of the provided support to decision- and policy-makers is strongly dependent on a proper conduct of the LCA. How has LCA been applied until now? Are there any inconsistencies in the past practice? To answer these questions, we draw on a critical review of 222 published LCA studies of solid waste management systems. We analyse the past practice against the ISO standard requirements and the ILCD Handbook guidelines for each major step within the goal definition, scope definition, inventory analysis, impact assessment, and interpretation phases of the methodology. Results show that malpractices exist in several aspects of the LCA with large differences across studies. Examples are a frequent neglect of the goal definition, a frequent lack of transparency and precision in the definition of the scope of the study, e.g. an unclear delimitation of the system boundaries, a truncated impact coverage, difficulties in capturing influential local specificities such as representative waste compositions into the inventory, and a frequent lack of essential sensitivity and uncertainty analyses. Many of these aspects are important for the reliability of the results. For each of them, we therefore provide detailed recommendations to practitioners of waste management LCAs.     

Do spotless starlings place feathers at their nests by ultraviolet color?

A considerable number of bird species carry feathers to their nests. Feathers’ presence in the nests has traditionally been explained by their insulating properties. Recently, however, it has been suggested that feathers carried to the nests by females of the spotted starling (Sturnus unicolor L.) could have an ornamental function based on their ultraviolet (300–400 nm) and human-visible longer wavelength (400–700 nm) coloration. In our population, 95.7% of feathers found inside next-boxes occupied by nesting starlings were rock dove fly feathers. Of these feathers, 82.7% were naturally positioned with their reverse side oriented toward the entrance hole and 42.4% of all found feathers were situated within the nest-cup. Here we experimentally assess the signaling function of ultraviolet coloration of feathers in nests of spotless starlings by providing nests with a number of pigeon flight feathers that were respectively treated on their obverse, reverse, both, or neither side with a UV blocker. Starlings placed 42.5% of the experimental feathers in the nest-cup irrespective of the UV block treatment. Orientation of feathers toward the entrance hole was not related with their ultraviolet radiation. However, feathers placed within the nest-cup were more likely found with their reverse side oriented toward the entrance hole confirming our correlative findings. These results suggest a minor role of ultraviolet coloration on feather location by spotless starlings.