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.     

Improving the risk–risk trade-off method for use in safety project appraisal responses

Environmental Economics and Policy Studies - The risk–risk trade-off method is a technique used to elicit the relative trade-off between changes in morbidity and mortality risks in stated...     

Environmental sub models for a macroeconomic model: agricultural contribution to climate change and acidification in Denmark

Integrated modelling of the interaction between environmental pressure and economic development is a useful tool to evaluate environmental consequences of policy initiatives. However, the usefulness of such models is often restricted by the fact that these models only include a limited set of environmental impacts, which are often energy-related emissions. In order to evaluate the development in the overall environmental pressure correctly, these model systems must be extended. In this article an integrated macroeconomic model system of the Danish economy with environmental modules of energy related emissions is extended to include the agricultural contribution to climate change and acidification. Next to the energy sector, the agricultural sector is the most important contributor to these environmental themes and subsequently the extended model complex calculates more than 99% of the contribution to both climate change and acidification. Environmental sub-models are developed for agriculture-related emissions of CH(4), N(2)O and NH(3). Agricultural emission sources related to the production specific activity variables are mapped and emission dependent parameters are identified in order to calculate emission coefficients. The emission coefficients are linked to the economic activity variables of the Danish agricultural production. The model system is demonstrated by projections of agriculture-related emissions in Denmark under two alternative sets of assumptions: a baseline projection of the general economic development and a policy scenario for changes in the husbandry sector within the agricultural sector.     

A method of hazard assessment of a gaseous substance with respect to formation of toxic photodecomposition products. Application to CCl4, CCl3F and CCl2F2

CCl₄, CCl₃F and CCl₂F₂ decompose in ambient air forming highly toxic carbonyl halides etc. when exposed to sources of intense uv-emission, e.g. welding arcs. The resulting health hazard is assessed using a mathematical model.