Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a potentially fatal inherited disease with a carrier frequency of approximately 1:100 in most Caucasian populations. The disease is implicated in sudden unexpected death in childhood. A prevalent disease-causing point mutation (A985G) in the MCAD gene has been characterized, thus rendering diagnosis easy in the majority of cases. Since the clinical spectrum of MCAD deficiency ranges from death in the first days of life to an asymptomatic life, there are probably other genetic factors—in addition to MCAD mutations—involved in the expression of the disease. Thus, families who have experienced the death of a child from MCAD deficiency might have an increased risk of a seriously affected subsequent child. In such a family we have therefore performed a prenatal diagnosis on a chorionic villus sample by a highly specific and sensitive polymerase chain reaction (PCR) assay for the G985 mutation. The analysis was positive and resulted in abortion. We verified the diagnosis by direct analysis on blood spots and other tissue material from the aborted fetus and from family members.     

CO2-free paper?

Black liquor gasification–combined cycle (BLGCC) is a new technology that has the potential to increase electricity production of a chemical pulping mill. Increased electricity generation in combination with the potential to use biomass (e.g. bark, hog fuel) more efficiently can result in increased power output compared to the conventional Tomlinson-boiler. Because the BLGCC enables an integrated pulp and paper mill to produce excess power, it can offset electricity produced by power plants. This may lead to reduction of the net-CO₂ emissions. The impact of BLGCC to offset CO₂ emissions from the pulp and paper industry is studied. We focus on two different plant designs and compare the situation in Sweden and the US. The CO₂ emissions are studied as function of the share of recycled fibre used to make the paper. The study shows that under specific conditions the production of “CO₂-free paper” is possible. First, energy efficiency in pulp and paper mills needs to be improved to allow the export of sufficient power to offset emissions from fossil fuels used in boilers and other equipment. Secondly, the net-CO₂ emission per ton of paper depends strongly on the emission reduction credits for electricity export, and hence on the country or grid to which the paper mill is connected. Thirdly, supplemental use of biomass to replace fossil fuel inputs is important to reduce the overall emissions of the pulp and paper industry.     

CCall--healthy and successful work in call centres.

Call centre workplaces are in many ways a challenge to occupational health and safety. The occupation itself can be described as an IT information technology-supported, communication-intensive form of work with often unusual working hours and a high rate of part-time employment. Data on the employee turnover as well as absenteeism related to occupational disability is quite contradictory. Occupational safety and its proponents still have to find new ways into the corporate structures and cultures of this relatively new and rapidly growing branch of industry. In a 2-year research and development project, using a holistic approach and under consideration of all the relevant disciplines, call centre workplaces were studied, and organisational measures were developed and field tested by putting them into practice. Practical help was developed for a sustainable strategy for successful and healthy work in call centres.     

Innovative aspects of environmental chemistry and technology regarding air,water, and soil pollution

Environmental Science and Pollution Research -     

Detection Method for Avian Influenza Viruses in Water

Recent events have shown that humans may become infected with some pathogenic avian influenza A viruses (AIV). Since soil and water, including lakes, rivers, and seashores, may be contaminated by AIV excreted by birds, effective methods are needed for monitoring water for emerging viruses. Combining water filtration with molecular methods such as PCR is a fast and effective way for detecting viruses. The objective of this study was to apply a convenient method for the detection of AIV in natural water samples. Distilled water and lake, river, and seawater were artificially contaminated with AIV (H5N3) and passed through a filter system. AIV was detected from filter membrane by real-time RT-PCR. The performance of Zetapor, SMWP, and Sartobind D5F membranes in recovering influenza viruses was first evaluated using contaminated distilled water. SWMP, which gave the highest virus recoveries, was then compared with a pre-filter combined GF/F filter membrane in a trial using natural water samples. In this study, the cellulose membrane SMWP was found to be practical for recovery of AIVs in water. Viral yields varied between 62.1 and 65.9% in distilled water and between 1 and 16.7% in natural water samples. The borosilicate glass membrane GF/F combined with pre-filter was also feasible in filtering natural water samples with viral yields from 1.98 to 7.33%. The methods described can be used for monitoring fresh and seawater samples for the presence of AIV and to determine the source of AIV transmission in an outbreak situation.     

Natural and man-made organobromine compounds in marine biota from Central Norway

Brominated organic pollutants were found in selected samples of mollusk tissue, fish liver, as well as in the eggs and livers of shag from three sites in Central Norway. More than 80 organobromines were identified owing to the defined isotope ratio acquired by GC/ECNI-MS. However, only a few peaks could be assigned to anthropogenic brominated flame retardants (polybrominated diphenyl ethers). Most of the organobromine compounds detected were unknown or halogenated natural products. The known halogenated natural products MHC-1 and TBA were abundant in all samples and usually between equally abundant, and up to 50 fold more concentrated than the major polybrominated diphenyl ether congener BDE 47. The halogenated natural products BC-2 (2-MeO-BDE 68) and BC-3 (6'-MeO-BDE 47), were on level with BDE 100 which was the second most abundant BDE congener in many samples. The previously identified natural polybrominated hexahydroxanthene derivatives (PBHDs) were detected for the first time in bird eggs. Being major contaminants in bird eggs, PBHDs were only present at low levels in bird liver from nestlings originating from the same clutch. Such differences were detected for several other major contaminants. One unknown tetrabromo compound particularly abundant in mussels from Munkholmen was studied by GC/MS and the molecular ion was detected at m/z 446. The abundance of the most important unknown compounds did not correlate with BDEs and they most likely represent halogenated natural products. This study supports that halogenated natural products have to be treated as serious contaminants of marine coastal waters. Our data suggest that their abundance is highest in habitats along the shoreline. Thorough examination of these compounds in environmental samples is an important task.     

Reviving wood-pastures for biodiversity and people: A case study from western Estonia

Wood-pastures are associated with high cultural and biodiversity values in Europe. However, due to their relatively low productivity, large areas of wood-pastures have been lost over the last century. In some areas, incentive schemes have been developed to revive wood-pastures. We investigated the effects of one such scheme in western Estonia. We compared the structure of grazed wood-pastures (old and restored) to those of abandoned wood-pastures and ungrazed forest stands to explore the effects of management, and conducted interviews with 24 farmers to investigate their motivations to carry out the management. We found a positive influence of active management on the semi-open structure of wood-pastures. Financial support was vital for management, but personal values related to tradition also played an important role. The interviewees differed widely in their range of motivations, suggesting that other strategies in addition to financial incentives would further improve the management of wood-pastures in the region.

Electronic supplementary material

The online version of this article (doi:10.1007/s13280-015-0719-8) contains supplementary material, which is available to authorized users.