Prenatal diagnosis for dystrophia myotonica using the polymerase chain reaction

The polymerase chain reaction has been used to detect an abundant class of short repeat DNA families of the form (dC-dA)n.(dG-dT)n, known as microsatellites. These units are found throughout the human genome and have been characterized for several loci including APOC2 on chromosome 19ql2-ql3.2. The locus APOC2 is linked to the gene for dystrophia myotonica and a microsatellite within this locus was used to derive polymorphisms in a family to predict the inheritance of the disease. Chorionic villus sampling (CVS) was performed at 151/2 weeks' gestation. Following DNA extraction from the CVS material and parental blood samples, microsatellite analysis was carried out by the polymerase chain reaction.     

Prenatal diagnosis and post-mortem study of a fetus with mosaic trisomy 14 due to a dic(14)(p11)

Amniocentesis at 17 weeks' gestation revealed a mosaic karyotype—46,XX/46,XX, — 14,+dic(14)(p11). No abnormalities were detected on ultrasound. Growth and placentation were normal. The fetus was examined after termination of pregnancy and micrognathia and pulmonary hyperlobation were the only abnormalities detected. Several tissues were set up for cytogenetics, including fetal skin, kidney, ovary, and placenta. The diagnosis was confirmed by these studies. The level of mosaicism varied between tissues, with the trisomy 14 cell line highest in amniotic fluid.     

Chorionic villus sampling—short-term versus long-term culture in a subtle 2; 18 translocation

Prenatal diagnosis on chorionic villous tissue was performed for a woman with the karyotype 46,XX,t(2;18)(q32;q12)—a subtle ‘difficult’ translocation. The case illustrates the necessity of good quality cytogenetics for accurate prenatal diagnosis. For chorionic villi this can be obtained only with long-term culture.     

Erratum

Naturwissenschaften Aktuell     

CLIMATE CHANGE AND NATURAL HAZARDS IN NORTHERN CANADA: INTEGRATING INDIGENOUS PERSPECTIVES WITH GOVERNMENT POLICY

A study of the relationship between natural hazards and climate change in the international context provides the background for a discussion of the expected changes. In the context of this global discussion, this paper reviews the current perspectives of those natural hazards that are likely to be influenced by climate change, using northern Canada as a regional case study. The northern implications of the United Nations Framework Convention on Climate Change are examined, including the status of climate change action by the northern territorial governments, the evolving role of indigenous people, and the responsibility for climate change impacts. The difficulties surrounding natural hazards research in remote locations, and the approaches of indigenous people to natural hazards are then presented. The paper concludes with a suggested policy approach for climate change and natural hazards in northern Canada, underscoring the need for more comprehensive adaptive strategies to complement the current tendency to focus on the mitigation of greenhouse gases produced in this region.     

Effects of population density and cadmium toxicity on growth and survival of blowflies

The blowfly Lucilia sericata has been reared on artificial diets containing from 0 to 200 mg Cd kg(-1) at population densities ranging from 8 larvae per 4-g diet to 8 larvae per 32-g diet. Peak larval weight, development period, pupal weight, adult-emergence weight, and fecundity were measured. Larvae of blowflies respond to food deprivation by a reduction in larval weight and subsequent pupal and adult size. Contaminating the food supply with cadmium produced similar additive effects, reduced the growth rate, and increased the age of pupation. The results are of importance in determining the effects of environmental pollutants on population dynamics.     

Congestion and participation in outdoor recreation: A household production function approach

This paper examines the effects of congestion on recreational behavior within a household production model of consumer behavior. We assume that congestion affects the household's ability to produce constant quality recreational service flows and derive a reduced-form model for participation decisions in remote and developed camping. Empirical estimates of the effects of a congestion measure on the conditional probability of participation as well as on the level of participation are estimated for each activity by the type of trip using information from the 1972 National Recreation Survey. The findings suggest that congestion was most likely to affect the decision to participate and not the level once that decision had been made. While differences in these effects were observed across the activities studied, it is not clear how they should be interpreted since our congestion measure was a proxy variable likely to perform better for remote camping than developed camping.     

Intertemporal and intergenerational Pareto efficiency

Efficiency conditions are derived for both private and public goods which provide benefits over time. In deriving these conditions, the paper extends the notion of efficiency to an intertemporal Pareto-optimal concept requiring the maximization of the ith individual's utility at a point of time subject to the constancy of his utility in all future periods and that of all other individuals during the relevant time span. By permitting births and deaths, a generalization of the basic model recasts the analysis into an intergenerational setting. Additional extensions involve learning by doing and perpetual public goods. The paper concludes that several of the conventional practices in public expenditure analysis do not conform to our definition of intertemporal Pareto efficiency.