The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an important cause of hereditary stroke. Mutations in the Notch3 gene are clearly causally linked to this progressive vascular disorder. Cerebral ischemic attacks, cognitive decline, strokes, and vascular dementia constitute the major manifestations of this disorder. This report details the prenatal detection of a Notch3 mutation in the fetus of a couple where the father had a known mutation in this gene. This is the first report of a prenatal diagnosis of CADASIL, and another example of a serious, highly penetrant, and relentlessly progressive degenerative genetic disorder presenting decades after birth and for which prenatal diagnosis is an option. Copyright © 2005 John Wiley & Sons, Ltd.     

Genetic relatedness and space use in a behaviorally flexible species of marmot, the woodchuck (Marmota monax)

Solitary species show several patterns of space use and relatedness. Individuals may associate randomly or may live near female or male kin, often as a result of natal philopatry or dispersal patterns. Although usually described as solitary or asocial, woodchucks (Marmota monax) are behaviorally flexible marmots that exhibit greater sociality in some populations than others. I examined relationships between kinship, geographic distance, and home range overlap, as well as dispersal and philopatry, to determine the extent to which kin associated spatially. I used a combination of microsatellite DNA analysis, long-term behavioral observations, and radiotelemetry to test predictions that females, but not males, would associate with kin. Indeed, woodchucks lived closer and shared a greater proportion of their home range with more closely related animals. Overlap of females' and males' home ranges was positively correlated with kinship, and male–female dyads shared more area with closer kin. Most juveniles delayed dispersal beyond their first summer. Females often remained philopatric and settled near their natal range. Although males often dispersed as yearlings, some males also established territories within or immediately adjacent to their natal home ranges. A combination of factors can explain these spatial patterns, including high population density associated with the study site's location within a suburban environment, high dispersal costs, and abundant food. Thus, despite their asocial and solitary reputation, woodchucks displayed spatial patterns seen in other, more social species of ground-dwelling sciurids.     

Opportunities and challenges for mangrove carbon sequestration in the Mekong River Delta in Vietnam

Increasing value is attributed to mangroves due to their considerable capacity to sequester carbon, known as ‘blue carbon’. Assessments of opportunities and challenges associated with estimating the significance of carbon sequestered by mangroves need to consider a range of disciplinary perspectives, including the bio-physical science mangroves, social and economic issues of land use, local and international law, and the role of public and private finance. We undertook an interdisciplinary review based on available literature and fieldwork focused on parts of the Mekong River Delta (MRD). Preliminary estimates indicate mangrove biomass may be 70–150 t ha^?1, but considerably larger storage of carbon occurs in sediments beneath mangroves. These natural stores of carbon are compromised when mangroves are removed to accommodate anthropogenic activities. Mangroves are an important resource in the MRD that supplies multiple goods and services, and conservation or re-establishment of mangroves provides many benefits. International law and within-country environmental frameworks offer increasing scope to recognize the role that mangrove forests play through carbon sequestration, in order that these might lead to funding opportunities, both in public and private sectors. Such schemes need to have positive rather than negative impacts on the livelihoods of the many people living within and adjacent to these wetlands. Nevertheless, many challenges remain and it will require further targeted and coordinated scientific research, development of economic and social incentives to protect and restore mangroves, supportive law and policy mechanisms at global and national levels, and establishment of long-term financing for such endeavours.     

Towards a rational design of materials for the removal of environmentally relevant cations: polymer inclusion membranes (PIMs) and surface-modified PIMs for Sn2+ sequestration in aqueous solution

Environmental Science and Pollution Research - This work is focused on the design and preparation of polymer inclusion membranes (PIMs) for potential applications for stannous cation sequestration...     

Carbonyl compound leaching from polyethylene terephthalate into bottled water under sunlight exposure

Polyethylene terephthalate bottles containing natural spring water were used to study the leaching effect of carbonyl compounds after one year storage under real conditions of exposure. Ultraviolet-B and ultraviolet-A spectra of direct sunlight were acquired during the experiment. Leaching of acetone, acetaldehyde, and formaldehyde reached steady state after 210 days of outdoor storage, with the following concentrations: 434 ± 22, 345 ± 18, and 94 ± 5 µg/L, respectively. The increase due to sunlight exposure in comparison with laboratory storage in the dark was around 10%, 16%, and 36%. The leaching process of all three carbonyl compounds was found to follow the first-order kinetics. Photo-degradation of Polyethylene terephthalate bottles and the appearance of carboxyl end-groups were followed by attenuated total reflectance infrared spectra. After 313 days of storage under direct sunlight, new peaks appeared in the regions of 1770–1920 cm^?1 and 1685–1490 cm^?1. Cations, anions, total dissolved solids, pH, and conductivity were also measured during the storage period. Additionally, microbiological measurements as well as statistical analyses were also carefully discussed.     

Climate change impacts in Sub-Saharan Africa: from physical changes to their social repercussions

Regional Environmental Change - The repercussions of climate change will be felt in various ways throughout both natural and human systems in Sub-Saharan Africa. Climate change projections for this...     

Influence of hydrogeochemical processes on zero-valent iron reactive barrier performance: a field investigation

Geochemical and mineralogical changes were evaluated at a field Fe0-PRB at the Oak Ridge Y-12 site concerning operation performance during the treatment of U in high NO3- groundwater. In the 5-year study period, the Fe0 remained reactive as shown in pore-water monitoring data, where increases in pH and the removal of certain ionic species persisted. However, coring revealed varying degrees of cementation. After 3.8-year treatment, porosity reduction of up to 41.7% was obtained from mineralogical analysis on core samples collected at the upgradient gravel-Fe0 interface. Elsewhere, Fe0 filings were loose with some cementation. Fe0 corrosion and pore volume reduction at this site are more severe due to the presence of NO3- at a high level. Tracer tests indicate that hydraulic performance deteriorated: the flow distribution was heterogeneous and under the influence of interfacial cementation a large portion of water was diverted around the Fe0 and transported outside the PRB. Based on the equilibrium reductions of NO3- and SO4(2-) by Fe0 and mineral precipitation, geochemical modeling predicted a maximum of 49% porosity loss for 5 years of operation. Additionally, modeling showed a spatial distribution of mineral precipitate volumes, with the maximum advancing from the interface toward downgradient with time. This study suggests that water quality monitoring, coupled with hydraulic monitoring and geochemical modeling, can provide a low-cost method for assessing PRB performance.     

Sustainability Assessment for Agriculture Scenarios in Europe’s Mountain Areas: Lessons from Six Study Areas

Sustainability assessment (SA) is a holistic and long-range strategic instrument capable of assisting policy-making in electing, and deciding upon, future development priorities. The outcomes of an SA process become more relevant and strengthened when conducted with multi-stakeholder engagement, which provides for multiple dialogues and perspectives. This was the object of research of the SA team in the context of BioScene (Scenarios for Reconciling Biodiversity Conservation with Declining Agriculture Use in Mountain Areas in Europe), a three-year project (2002–2005) funded by the European Union 5th Framework Program, which aimed to investigate the implications of agricultural restructuring and decline for biodiversity conservation in the mountain areas of Europe, using three distinct methodological streams: the ecological, the socio-economic, and the SA approaches. The SA approach drew on the previous two to assess the importance for biodiversity management of different scenarios of agri-environmental change and rural policy in six countries (France, Greece, Norway, Slovakia, Switzerland, and the United Kingdom), develop causal chains, include stakeholder views, and identify potential contributions for, or conflicts with, sustainability. This article tells how SA was used, what sustainability meant in each study area through different objectives of sustainability considered, discusses the methods used in SA, and the benefits arising. The SA was conducted by a team independent of any study area, who developed and oversaw the application of the SA methodology, assisting national teams, and developing a cross-country understanding of the sustainability of proposed scenarios in the different geographical and social contexts, and their implications for policy-making. Finally, it reflects on the persistent challenges of interdisciplinary research, compounded by multi-cultural teams, and concludes on the BioScene’s lessons for the further development and application of SA.