Use of the chemical cleavage of mismatch method for prenatal deficiency diagnosis of alpha-1-antitrypsin

The most common mutation in alpha-1-antitrypsin deficiency, conversion of a G to an A at base 9989 (PI-Z), was detected with the chemical cleavage of mismatch method, demonstrating the power of the method for prenatal diagnosis. Exon V of the gene was amplified using the polymerase chain reaction and heteroduplexes were formed to test for the presence of the mutation. The predicted C mismatch was readily detectable with hydroxylamine, and by making the probe from the chorionic villus sample it was possible to determine that the fetus was heterozygous, not homozygous, for the mutation.     

Rare non-mosaic trisomies in chorionic villus tissue not confirmed at amniocentesis

This paper reports eight cases of non-mosaic, rare, and typically lethal trisomies diagnosed in chorionic villi and not confirmed by amniocentesis. Four cases were 47,XX, + 16; two cases were 47,XX, +2; one was 47,XX, + 12; and one was 47,XY, +7. There have been no known complications in any of these gestations. These eight cases were found in a series of approximately 12 000 samples processed in our laboratory (0.07 per cent). We conclude that (1) rare non-mosaic trisomy not reflecting the fetal condition is an occasional source of diagnostic ambiguity in chorionic villus sampling; and (2) when encountered, a follow-up amniocentesis should be recommended to the patient to confirm or rule out the abnormality. We propose the term ‘confined placental abnormality’ to describe non-mosaic trisomies and other related abnormalities found only in chorionic tissue.     

Reproductive behaviour and prenatal diagnosis following genetic termination of pregnancy in women of advanced maternal age

One hundred and fifty-one women of advanced maternal age who underwent genetic termination of pregnancy (TOP) were studied for their reproductive behaviour and the type of procedure for prenatal diagnosis in a subsequent pregnancy. A total of 59 women (39 per cent) had a further pregnancy. In all continuing pregnancies prenatal diagnosis was performed, of which 75 per cent consisted of chorionic villus sampling (CVS). Reproductive behaviour following a genetic termination was negatively correlated with maternal age and parity. Both reproductive behaviour and the choice to undergo a diagnostic procedure in the next pregnancy were independent of the type of diagnostic procedure in the previous affected pregnancy.     

Challenges to achieving a successful transition to a low carbon economy in South Africa: examples from poor urban communities

South Africa faces several development challenges including those linked to climate change. Energy usage in South Africa, for example, is already constrained because of a range of development challenges (the dependence on cheap coal as a heating source; energy availability; access; affordability of alternative energy sources; and a range of health impacts, including air pollution). Notwithstanding calls for a transition to a low carbon economy, there have been few, recent assessments in South Africa of the costs associated with such a transition, particularly the social and economic costs for the poor who use energy in a variety of ways. In this paper we focus on trying to unravel some of the complex energy-use behaviour including understanding what drives consumers in resource-poor areas to choose and use persistently risky energy options. Analysis of qualitative data in two township areas, Doornkop and Kwaguqa, shows that township households, whether electrified or not, continue to burn coal. In both study areas, an estimated 80% of electrified households burn coal for space heating and cooking and also make use of multiple fuel sources for a range of activities. Although the major obstacles preventing people from discontinuing domestic coal combustion are poverty, the ready availability and social acceptability of coal together with other social customs cannot be underrated. This paper therefore highlights some of the persistent challenges associated with sustainable energy transitions in South Africa including implications for improved mitigation and adaptation for the energy sector in wider climate change efforts.     

Sustainability assessment of a giant bamboo plantation in Brazil: exploring the influence of labour,time and space

Bamboo presents physical and mechanical characteristics, which turn it an alternative option for product development, replacing native or reforested wood. The sustainability assessment of a Dendrocalamus Giganteus species plantation in Brazil through the emergy methodology evidences a great weight of renewable (30% sej/sej) and human labour contributions (33% sej/sej). These contributions account for the great interface with environment and to the intensive work, respectively. The transformity value of bamboo production is 2.42E + 04 sej/J. The influence human labour has on the total emergy flow and on indicators is evaluated by taking into account different country locations (Brazil, Australia and China). Thus, a different transformity value for labour is assumed for each country. A ranking based on emergy sustainability index (ESI) values shows that bamboo production in China was the first placed, followed by Brazil and Australia (values of 1.18, 0.50 and 0.09, respectively). The insertion of indirect renewability embedded in labour results in the ranking modification, leading to plantation in Brazil in the first place, followed by the Australian and Chinese ones. The relative position of the bamboo systems is visualized in the ternary diagram expressed in terms of emergy. In an attempt to explore the relationship between sustainability and time, a graphic of ESI vs. global productivity is discussed in terms of a prospective evaluation. Indirect support areas of the bamboo production are calculated as a way to evaluate the sustainability-space relationship.     

Methods for project-based mechanisms (JI/CDM)—relevance of IPCC inventory guidelines

A baseline for a project consists of estimates of annual emissions of greenhouse gases (GHG) for a given time period without implementing the project. A general three-step process for determining the baseline is suggested. The emission reduction of the project is given by the difference between the baseline and the monitored annual emissions. A preferred method, direct measurement of the emission reduction, is possible for some types of projects. Methods for estimating the annual baseline emissions are not necessary for the latter category, and a definition of this project category is suggested. IPCC Guidelines for National GHG Inventories categorise the emission sources so that only direct emissions from consumption of fuel and feedstock are calculated. There are thus no emission factors for indirect emissions (e.g. electricity consumption or km transported) or emission factors that depend on technology only, independent of consumption of fuel and feedstock. Technology-dependent emission factors may thus need to be developed for estimating indirect emissions and multi-project baselines. Consistency should be sought with the IPCC Guidelines when estimating annual baseline emissions and in monitoring project emissions to ensure comparability with the National Inventories.