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.     

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

Environmental Science and Pollution Research -