A chromosome 21-specific cosmid cocktail for the detection of chromosome 21 aberrations in interphase nuclei

Fluorescent in situ hybridization (FISH) with a 21q11-specific probe (CB21c1) consisting of three non-overlapping cosmids has been applied to interphase amniocytes of pregnancies at increased risk for fetal aneuploidy (N = 78) and to interphase lymphocytes, cultured and uncultured, of patients referred for Down syndrome (N = 19 and 28, respectively). In the uncultured amniocytes, six chromosome aberrations were detected: three cases of trisomy 21, a triploidy, a de novo 46,XX,t(21q21q), and a mosaic 46,XY/47,XY,+dic(21)(q11)/48,XY,+dic(21)(q11), +del(21)(q11). In 15 cultured and 20 uncultured blood samples, FISH correctly diagnosed trisomy 21 (full or mosaic) at the interphase level, which was confirmed in all cases by subsequent karyotyping. Because of specific and strong signals in interphase nuclei, CB21c1 appears to be a useful tool for the rapid detection of chromosome 21 abnormalities.     

Sustainability experiments in Asia: innovations shaping alternative development pathways?

Global sustainability is increasingly influenced by processes of industrialisation and urbanization in non-OECD countries, especially in Asia. Growth models suggest that developing economies and regions will become first relatively more resource- and pollution-intensive, before converging on more resource-efficient and low-pollution production and consumption patterns expressed in developed countries. Alternative less resource- and pollution-intensive growth models for latecomer countries promise social and economic benefits in the short- and long-term. Drawing on insights from system innovation research on long-run change in socio-technical systems, we discuss the potential role of ‘sustainability experiments’ to generate innovations that will constitute new ‘greener’ growth models. We observe a great number of technology-based initiatives that we characterize as sustainability experiments in East and South Asian countries. These experiments emerge in the context of the growth of new socio-technical regimes in key sectors, including energy, transport, manufacturing, food and the built environment. We set out a conceptual framework for assessing the role of experiments, and for evaluating how they link with and become anchored into alternative more sustainable regimes. In this paper we argue that sustainability experiments represent a significant new source of innovation and capability-formation, linked to global knowledge and technology flows, which could reshape emergent socio-technical regimes and so contribute to alternative development pathways in latecomer countries. We conclude by summarizing the six papers published in this Special Issue.     

Architecture of 54 moist-forest tree species: traits, trade-offs, and functional groups

Tree architecture is an important determinant of the height extension, light capture, and mechanical stability of trees, and it allows species to exploit the vertical height gradient in the forest canopy and horizontal light gradients at the forest floor. Tropical tree species partition these gradients through variation in adult stature (Hmax) and light demand. In this study we compare 22 architectural traits for 54 Bolivian moist-forest tree species. We evaluate how architectural traits related to Hmax vary with tree size, and we present a conceptual scheme in which we combine the two axes into four different functional groups. Interspecific correlations between architecture and Hmax varied strongly from negative to positive, depending on the reference sizes used. Stem height was positively related to Hmax at larger reference diameters (14-80 cm). Species height vs. diameter curves often flattened toward their upper ends in association with reproductive maturity for species of all sizes. Thus, adult understory trees were typically shorter than similar-diameter juveniles of larger species. Crown area was negatively correlated with Hmax at small reference heights and positively correlated at larger reference heights (15-34 m). Wide crowns allow the small understory species to intercept light over a large area at the expense of a reduced height growth. Crown length was negatively correlated with Hmax at intermediate reference heights (4-14 m). A long crown enables small understory species to maximize light interception in a light-limited environment. Light-demanding species were characterized by orthotropic stems and branches, large leaves, and a monolayer leaf arrangement. They realized an efficient height growth through the formation of narrow and shallow crowns. Light demand turned out to be a much stronger predictor of tree architecture than Hmax, probably because of the relatively low, open, and semi-evergreen canopy at the research site. The existence of four functional groups (shade-tolerant, partial-shade-tolerant, and long- and short-lived pioneer) was confirmed by the principal component and discriminant analysis. Both light demand and Hmax capture the major variation in functional traits found among tropical rain forest tree species, and the two-way classification scheme provides a straightforward model to understand niche differentiation in tropical forests.     

Toenail cerium levels and risk of a first acute myocardial infarction: the EURAMIC and heavy metals study

The association between cerium status and risk of first acute myocardial infarction (AMI) was examined in a case-control study in 10 centres from Europe and Israel. Cerium in toenails was assessed by neutron activation analysis in 684 cases and 724 controls aged 70 years or younger. Mean concentrations of cerium were 186 and 173 microg/kg in cases and controls, respectively. Cerium was positively associated with low socio-economic status, smoking, mercury, zinc and scandium (p0.001). Cases had significantly higher levels of cerium than controls after adjustment for age and centre (case-control ratio 1.074; 95% CI 1.002-1.151) and increased in further adjustment for other cardiovascular risk factors 1.085; 95% CI 1.025-1.149. The risk after adjustment for age and centre was higher with increasing cerium levels (p for trend=0.02). After adjustment for BMI, history of hypertension, smoking, alcohol intake, diabetes, family history of CHD, beta-carotene, lycopene, alpha-tocopherol, selenium, mercury and scandium, the OR for the highest quintile was 1.43 (95% CI 0.85-2.41; p-trend 0.08). When we applied this same model in non-smokers the odds ratios in the 4th and 5th quintiles of cerium as compared with the lowest were 2.09 (95% CI 1.05-4.16) and 2.81 (95% CI 1.21-6.52), respectively, p-trend 0.011. Our results suggest that toenail cerium levels may be associated with an increased risk of AMI, but more research is warranted to shed further light and fully understand the plausibility and public health implications of these findings.     

The metacoupled Arctic: Human–nature interactions across local to global scales as drivers of sustainability

The Arctic is an epicenter of complex environmental and socioeconomic change. Strengthened connections between Arctic and non-Arctic systems could threaten or enhance Arctic sustainability, but studies of external influences on the Arctic are scattered and fragmented in academic literature. Here, we review and synthesize how external influences have been analyzed in Arctic-coupled human and natural systems (CHANS) literature. Results show that the Arctic is affected by numerous external influences nearby and faraway, including global markets, climate change, governance, military security, and tourism. However, apart from climate change, these connections are infrequently the focus of Arctic CHANS analyses. We demonstrate how Arctic CHANS research could be enhanced and research gaps could be filled using the holistic framework of metacoupling (human–nature interactions within as well as between adjacent and distant systems). Our perspectives provide new approaches to enhance the sustainability of Arctic systems in an interconnected world.Supplementary InformationThe online version contains supplementary material available at 10.1007/s13280-022-01729-9.     

Effectiveness of unit-based pricing of waste in the Netherlands: Applying a general equilibrium model

Differential and variable rates (DVR) in waste collection charging give a price incentive to households to reduce their waste and increase recycling. International empirical evidence confirms the effectiveness of DVR schemes, with limited unwanted side effects. In the Netherlands, currently some 20% of the population is charged at DVR. This is less than in several other countries. Taking into account differences between types of households and dwellings, this study analyses various scenarios for extended use of DVR in the Netherlands. The analysis shows that further penetration of DVR is a cost-effective instrument for waste reduction and more recycling. Moreover, DVR can itself be seen as a necessary condition for the successful implementation of other economic instruments, such as waste taxes. It is therefore recommended to stimulate municipalities to adopt DVR schemes in the Netherlands, accompanied by the provision of adequate facilities for waste separation by households. Before introducing DVR in ‘very strongly urbanized’ municipalities (i.e. the 12 largest cities in the Netherlands) a pilot experiment in one of them might be useful to test the behavioral response in this category.     

A framework to measure the wildness of managed large vertebrate populations

As landscapes continue to fall under human influence through habitat loss and fragmentation, fencing is increasingly being used to mitigate anthropogenic threats and enhance the commercial value of wildlife. Subsequent intensification of management potentially erodes wildness by disembodying populations from landscape-level processes, thereby disconnecting species from natural selection. Tools are needed to measure the degree to which populations of large vertebrate species in formally protected and privately owned wildlife areas are self-sustaining and free to adapt. We devised a framework to measure such wildness based on 6 attributes relating to the evolutionary and ecological dynamics of vertebrates (space, disease and parasite resistance, exposure to predation, exposure to limitations and fluctuations of food and water supply, and reproduction). For each attribute, we set empirical, species-specific thresholds between 5 wildness states based on quantifiable management interventions. We analysed data from 205 private wildlife properties with management objectives spanning ecotourism to consumptive utilization to test the framework on 6 herbivore species representing a range of conservation statuses and commercial values. Wildness scores among species differed significantly, and the proportion of populations identified as wild ranged from 12% to 84%, which indicates the tool detected site-scale differences both among populations of different species and populations of the same species under different management regimes. By quantifying wildness, this framework provides practitioners with standardized measurement units that link biodiversity with the sustainable use of wildlife. Applications include informing species management plans at local scales; standardizing the inclusion of managed populations in red-list assessments; and providing a platform for certification and regulation of wildlife-based economies. Applying this framework may help embed wildness as a normative value in policy and mitigate the shifting baseline of what it means to truly conserve a species.