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.     

Estimating the risk of a fetal autosomal trisomy at mid-trimester using maternal serum alpha fetoprotein and age: A retrospective study of 142 pregnancies

Risks appropriate for mid-trimester prenatal screening for autosomal trisomies have been estimated from a combination of maternal age and maternal serum (MS) alpha-fetoprotein (AFP) levels at 16–20 weeks gestation. Published data on the frequency of Down's syndrome births relative to maternal age were modified to include the additional age-related frequency of trisomy 18 and trisomy 13 cases to provide an overall risk for an autosomal trisomy at midtrimester. MSAFP results from a retrospective study of 142 affected (114 trisomy 21, 19 trisomy 18, and 9 trisomy 13)and 113 000 unaffected pregnancies were converted to multiples of the appropriate gestational median (MOM). The AFP levels in the autosomal trisomy pregnancies were found to be significantly reduced at 0.72 MOM of the unaffected pregnancies. Risks (likelihood ratios) were derived from the overlapping log Gaussian distributions for affected and unaffected pregnancies and combined with maternal age risks to give the overall odds of an affected pregnancy. A mid-trimester cut-off risk of 1:280 gave an estimated 37 per cent detection rate for autosomal trisomies in the west of Scotland population for a follow-up (false-positive) rate of 6.6 per cent. These figures compare with a 30 per cent detection and 6.7 per cent false-positive rate if age 35 years and over is used as the sole criterion for selection of at-risk pregnancies.     

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.     

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.     

An automated wet deposition system to compare the effects of reduced and oxidised N on ombrotrophic bog species: Practical considerations

Critical N loads for ombrotrophic bogs, which often contain rare and N-sensitive plants (especially those in lower plant groups: lichens, mosses and liverworts), are based on very few experimental data from measured, low background N deposition areas. Additionally the relative effects of reduced versus oxidised N are largely unknown. This paper describes an automated field exposure system (30 km S. of Edinburgh, Scotland) for treating ombrotrophic bog vegetation with fine droplets of oxidised N (NaNO₃) and reduced N (NH₄Cl). Whim Moss exists in an area of low ambient N deposition (ca. 8 kg N ha^?1 y^?1), the sources and quantification of which are described. The wet N treatment system is run continuously, and is controlled/activated by wind speed and rainfall to provide a unique simulation of “real worl” treatment patterns (no rain=no treatment). Simulated precipitation is supplied at ionic concentrations below 4 mM in rainwater collected on site. Treatments provide a replicated dose response to 16, 32 and 64 kg N ha^?1 y^?1 adjusted for ambient deposition (8 kg N ha^?1 y^?1). The 16 and 64 kg N ha^?1 y^?1 are duplicated with a P+K supplement. Baseline soil chemistry and foliar nutrient status was established for all 44 plots for Calluna vulgaris, Sphagnum capillifolium, Hypnum jutlandicum and Cladonia portentosa.     

Quantifying dry NH3 deposition to an ombrotrophic bog from an automated NH3 field release system

Providing an accurate estimate of the dry component of N deposition to low N background, semi-natural habitats, such as bogs and upland moors dominated by Calluna vulgaris is difficult, but essential to relate nitrogen deposition to effects in these communities. To quantify the effects of NH₃ inputs to moorland vegetation growing on a bog at a field scale, a field release NH₃ fumigation system was established at Whim Moss (Scottish Borders) in 2002. Gaseous NH₃ from a line source was released along of a 60 m transect, when meteorological conditions (wind speed >2.5 m s^?1 and wind direction in the sector 180–215°) were met, thereby providing a profile of decreasing NH₃ concentration with distance from the source. In a complementary study, using a NH₃ flux chamber system, the relationships between NH₃ concentrations and cuticular resistances were quantified for a range of NH₃ concentrations and micrometeorological conditions for moorland vegetation. Cuticular resistances increased with NH₃ concentration from 11 s m^?1 at 3.0 μg m^?3 to 30 s m^?1 at 30 μg m^?3. The NH₃ concentration data and the concentration-dependent canopy resistance are used to calculate NH₃ deposition taking into account leaf surface wetness. The implications of using an NH₃ concentration-dependent cuticular resistance and the importance for refining critical loads are discussed.