Mutation analysis for prenatal diagnosis and heterozygote detection of Gaucher disease type III (norrbottnian type)

A single base substitution in exon 10 of the glucocerebrosidase gene was detected in families affected by Gaucher disease (GD) type III. This mutation, which results in the substitution of proline for leucine in position 444 of glucocerebrosidase, has been shown to result in type III GD in a Swedish population. Three fetuses at risk for GD type III were diagnosed as homozygous for the mutation and the pregnancies were terminated. In a fourth pregnancy, one parent was excluded as being a carrier and the risk of having a child affected by GD was ignored. Direct analysis of common mutations causal to GD is now available and improves prenatal diagnosis in families where the molecular defect has been characterized.     

Applying the Precautionary Principle in Environmental Assessment: The Case of Reviews in British Columbia

This paper examines the application of the precautionary principle in environmental assessment, specifically using the Salmon Aquaculture Review and the Burns Bog Ecosystem Review in British Columbia as case studies. Lessons are drawn and advice is offered. A conceptual model is presented, framed according to the level of uncertainty regarding impacts and the likelihood of those impacts, as well as the irreversibility of impacts on the environmental system. A distinction is made between management strategies that should either avoid the activities in question or allow for adaptive management and, if implemented effectively, prevent or mitigate adverse effects. Applying the precautionary principle in environmental assessment requires, above all, clear communication and the development of a common understanding of the basis for decisions. The model presented in this paper is suggested as a tool from which a more specific methodological framework can be developed on a case by case basis.     

Urban property values and contaminated sites: A hedonic analysis of Sydney, Nova Scotia

This study examines the impact of contaminated sites on urban property values in Sydney, Nova Scotia, Canada. The property value effects are examined using an inverse distance specification from the property to the site. A hedonic method employing ordinary least-square technique was used for model estimation. The results show that the presence of contaminated sites has had significant negative effect on the value of residential property. This negative effect, however, is largely localized to within few hundred metres of the sites. The total property value loss in urban Sydney from the contaminated sites is estimated to be $CDN 36 million.     

Comparative toxicity assessment of in situ burn residues to initial and dispersed heavy fuel oil using zebrafish embryos as test organisms

Environmental Science and Pollution Research - In situ burning (ISB) is discussed to be one of the most suitable response strategies to combat oil spills in extreme conditions. After burning, a...     

Early prenatal diagnosis of the fragile site AT Xq27.3 associated with Martin-Bell syndrome

Early prenatal diagnosis of the fragile X was attempted in 44 pregnancies, including one twin pregnancy at risk of Martin-Bell (MB) syndrome. The sex ratio was 24M:21F. The fragile site was reproducibly demonstrated in cultured chorionic villus (CV) cells in eight male and five female fetuses. Six of the male and three of the female fetuses were terminated. Simultaneous RFLP analysis provided confirmative data with flanking DNA markers in 3 of 13 analysed cases. Recombination and/or non-informativeness at available distal and/or proximal loci were found in nine cases. In one male fetus, discordance between the haplotype and cyto-genetics (fragile-X-negative) suggested the presence of a normal male transmitter, a double meiotic cross-over within the region, or a false-negative cytogenetic diagnosis. However, discordance between prenatal and post-termination/postnatal cytogenetic findings was not observed in this series. The use of excess thymidine for induction of the fragile X in cultured CV cells provided in the majority of cases a safe and rapid method for cytogenetic diagnosis, with options for early induced termination in fragile-X-positive pregnancies, for simultaneous RFLP analysis, and for subsequent second-trimester analysis of fetal blood in complicated cases.     

Utilization of coalbed methane

Substantial progress has been made in capturing coalbed methane (CBM gas), which constitutes a valuable source of clean burning energy. It is of utmost importance to recognize and study the various potential uses of coalbed methane and to understand the various technologies required, as well as their economics and any institutional constraints. In industrialized countries, the uses of coalbed methane are almost solely dependent on microeconomics; coalbed methane must compete for a market against natural gas and other energy sources – and frequently, coalbed methane is not competitive with other energy sources. In developing countries, on the other hand, particularly in countries where other sources of energy are in scarce supply, coalbed methane economics yields predictably positive results. Here, constraints to development of CBM utilization are mainly lack of technology and investment capital. Sociological aspects such as attitude and cultural habits, may also have a strong negative influence. This paper will outline the economics of coalbed methane utilization, particularly its competition with natural gas, and touch upon the many different uses to which coalbed methane may be applied. It is recommended that all potential uses of CBM gas must be carefully investigated for positive application, each on its own or in combination .