Prenatal diagnosis for huntington's disease: A molecular and psychological study

Two linked probes were used to determine the Huntington's disease status of the fetus conceived by a woman affected with the condition. The fetus was found to be unaffected with a certainty of 97 per cent. The ethical issues associated with presymptomatic testing were avoided since the mother presented with initial symptoms of Huntington's disease, but other psychological and ethical issues arose. The concerns of an affected woman planning a pregnancy, and the dilemmas involved in decision-making regarding prenatal diagnosis and possible selective abortion were exposed and explored with the patient and her husband.     

Parental response to mid-trimester therapeutic abortion following amniocentesis

This article reports the results of a retrospective study designed to examine the responses of couples to genetic amniocentesis and subsequent therapeutic abortions due to birth defects. Fourteen women and 12 men were interviewed by experienced interviewers using a structured format designed by the authors, and each interview was audiotaped for later rating. The 5 raters (all women) were instructed to independently rate each interview using forms designed by the authors to elicit information about many aspects of the participant's individual responses as well as perceptions of spouse's responses to the process of pregnancy, amniocentesis, therapeutic abortion, and sequelae. Ratings of all 5 raters were conjoined and an homogeneous narrative was constructed for each interview. Results indicate, in general, that the respondent couples coped well with this experience. In fact 70 per cent of the respondent couples described their marital relationships as becoming closer as a result of their experience. Only a few participants reported long-term deleterious effects. Most couples coped by relying on relatives, friends, and occasionally, professional counsellors. In addition, most participants in this study suggested ways to improve the medical and psychological aspects of this experience.     

Prenatal diagnosis of infantile GM 2 gangliosidosis type II (sandhoff disease) by detection of N-acetylglucosaminyl-oligosaccharides in amniotic fluid with high-performance liquid chromatography

Prenatal diagnosis of Sandhoff disease (infantile onset) at 16 weeks gestation has been made by detection and analysis of N-acetylglucosaminyl-oligosaccharides in amniotic fluid using high performance liquid chromatography. The elution profile for the branched chain oli-gosaccharides was identical with that obtained with neonatal and infantile Sandhoff urine. The concentration of the oligosaccharides in the fluid was 1/100th that of urine but when calculated relative to creatinine the levels were similar. No oligosaccharides were detected in normal control amniotic fluids (10 patients) at a similar gestational age. Based on the levels of the amniotic fluid oligosaccharides and the sensitivity limits of the assay, prenatal diagnosis of patients with the juvenile onset form of the disease may also be possible with this technique.     

A course in Environmental Planning and Management

Summary This paper describes a 13-weeks, third-year course in Environmental Planning and Management developed and taught by the authors. Initiated in 1969, the course consists of a mix of lectures, seminars, workshop/laboratory sessions and field-based projects. The objectives of the course are for students: to become aware of the need for, and the complexities of, environmental management; to be able to criticise constructively work done by environmental agencies and consultants, managers and decision makers; and to learn and apply some of the methods and techniques used in environmental management.Topics covered by the current syllabus are: concepts of resource and environment; constitutional aspects; international law and the environment; Australian and Canadian environmental legislation and agencies; human manipulation of ecosystems; energy subsidies; modification of biogeochemical cycles; population dynamics and cropping; fisheries; national parks and reserves—policies in different countries; international heritage areas; environmental assessment (including impact assessment, land evaluation, land capability and land suitability assessment); and regional, integrated land-use and environmental planning and management. Techniques taught include: field surveys and interviewing; laboratory analysis of selected water quality, sediment and soil parameters including nutrient concentrations, heavy metal and pesticide residues; and for some students, applications of geographic information systems (GIS) technology following preceding GIS courses.A major problem is selecting the most appropriate mix between the social and natural sciences—appropriate, first in terms of students' heterogeneous skills and backgrounds, and second, in terms of understanding the causes of environmental problems and issues, and devising practicable solutions.     

The GaNE programme in a global perspective

This paper provides the background to this special issue, outlining the extent to which the global atmospheric nitrogen cycle has been modified by human activity and outlining the range of effects. The global total emissions of reduced and oxidized nitrogen, amount to 124 Tg N, and exceed those from natural sources (34 Tg N) by almost a factor of four showing the extent to which anthropogenic activity has taken over the global N cycle. Of the 124 Tg N, 70 Tg N is emitted in the oxidized form, largely as NO and 70% of which results directly from anthropogenic activity. The remaining 54 Tg N is emitted as NH₃, (66% anthropogenic). The enhanced nitrogen emissions are associated with a range of local, regional and global issues including, acidification, eutrophication, climate change, human health and tropospheric O₃. The paper also places the Global Nitrogen Enrichment (GaNE) research programme in the UK in a wider perspective.     

Transforming open mining pits into fish farms: Moving towards sustainability

The legacy of mining activities has typically been land ‘returned to wildlife’, or, at some sites, degraded to such an extent that it is unsuitable for any alternate use. Progress towards sustainability is made when value is added in terms of the ecological, social and economic well‐being of the community. In keeping with the principles of sustainable development, the innovative use of flooded open pits and tailings impoundments as commercial, recreational or ornamental fish farms should be considered in some locations, as it could make a significant contribution to the social equity, economic vitality and environmental integrity of mining communities. This article highlights the growing significance of aquaculture and explores the benefits and barriers to transforming flooded pits and impoundments into aquaculture operations. Among other benefits, aquaculture may provide a much‐needed source of revenue, employment and, in some cases, food to communities impacted by mine closure. Further, aquaculture in a controlled closed environment may be more acceptable to critics of fish farming who are concerned about fish escapes and viral transmissions to wild populations. Despite the potential benefits, aquaculture in flooded pits and impoundments is not without its complications — it requires a site‐specific design approach that must consider issues ranging from metals uptake by fish, to the long‐term viability of the aquatic system as fish habitat, to the overall contribution of aquaculture to sustainability.     

ACCURACY OF LAKE AND STREAM TEMPERATURES ESTIMATED FROM THERMAL INFRARED IMAGES1

Emitted thermal infrared radiation (TIR, λ= 8 to 14 μm) can be used to measure surface water temperatures (top approximately 100 μm). This study evaluates the accuracy of stream (50 to 500 m wide) and lake (300 to 5,000 m wide) radiant temperatures (15 to 22°C) derived from airborne (MASTER, 5 to 15 m) and satellite (ASTER 90 m, Landsat ETM+ 60 m) TIR images. Applied atmospheric compensations changed water temperatures by ?0.2 to +2.0°C. Atmospheric compensation depended primarily on atmospheric water vapor and temperature, sensor viewing geometry, and water temperature. Agreement between multiple TIR bands (MASTER ‐ 10 bands, ASTER ‐ 5 bands) provided an independent check on recovered temperatures. Compensations improved agreement between image and in situ surface temperatures (from 2.0 to 1.1°C average deviation); however, compensations did not improve agreement between river image temperatures and loggers installed at the stream bed (from 0.6 to 1.6°C average deviation). Analysis of field temperatures suggests that vertical thermal stratification may have caused a systematic difference between instream gage temperatures and corrected image temperatures. As a result, agreement between image temperatures and instream temperatures did not imply that accurate TIR temperatures were recovered. Based on these analyses, practical accuracies for corrected TIR lake and stream surface temperatures are around 1°C.     

Using long-term data for a reintroduced population to empirically estimate future consequences of inbreeding

Inbreeding depression is an important long-term threat to reintroduced populations. However, the strength of inbreeding depression is difficult to estimate in wild populations because pedigree data are inevitably incomplete and because good data are needed on survival and reproduction. Predicting future population consequences is especially difficult because this also requires projecting future inbreeding levels and their impacts on long-term population dynamics, which are subject to many uncertainties. We illustrate how such projections can be derived through Bayesian state-space modeling methods based on a 26-year data set for North Island Robins (Petroica longipes) reintroduced to Tiritiri Matangi Island in 1992. We used pedigree data to model increases in the average inbreeding level (F ) over time based on kinship of possible breeding pairs and to estimate empirically N_e/N (effective/census population size). We used multiple imputation to model the unknown components of inbreeding coefficients, which allowed us to estimate effects of inbreeding on survival for all 1458 birds in the data set while modeling density dependence and environmental stochasticity. This modeling indicated that inbreeding reduced juvenile survival (1.83 lethal equivalents [SE 0.81]) and may have reduced subsequent adult survival (0.44 lethal equivalents [0.81]) but had no apparent effect on numbers of fledglings produced. Average inbreeding level increased to 0.10 (SE 0.001) as the population grew from 33 (0.3) to 160 (6) individuals over the 25 years, giving a ratio of 0.56 (0.01). Based on a model that also incorporated habitat regeneration, the population was projected to reach a maximum of 331–1144 birds (median 726) in 2130, then to begin a slow decline. Without inbreeding, the population would be expected stabilize at 887–1465 birds (median 1131). Such analysis, therefore, makes it possible to empirically derive the information needed for rational decisions about inbreeding management while accounting for multiple sources of uncertainty.