Genetic basis of lethal junctional epidermolysis bullosa in an affected fetus: Implications for prenatal diagnosis in one family

Fetal skin biopsy at 20 weeks' gestation in a woman at risk for a child with the lethal skin-blistering disorder junctional epidermolysis bullosa (Herlitz) confirmed an affected fetus. Genomic DNA from the aborted fetus was examined for mutations in laminin 5, a macromolecule involved in adhesion at the dermal-epidermal junction, and a candidate protein in this condition. Polymerase chain reaction (PCR) amplification of exon 10 and parts of the flanking introns of the gene encoding the β3 chain of laminin 5 (LAMB3) and subsequent analysis by agarose gel electrophoresis showed a more slowly migrating band in the affected fetus compared with the normal control. Nucleotide sequencing of the abnormal PCR product revealed a homozygous 77 bp duplication within the exon, resulting in a premature termination codon 250 bp downstream from the 3′ end of the duplication. Maternal DNA was heterozygous for the mutant and wild-type alleles. These findings illustrate the genetic basis of the skin disease in this case and also offer the prospects of a simple, rapid, and reliable first-trimester DNA-based prenatal, or even preimplantation, diagnostic test for future pregnancies in this family.     

Lethal fighting between honeybee queens and parasitic workers (<Emphasis Type="Italic">Apis mellifera</Emphasis>)

Pheromonal signals associated with queen and worker policing prevent worker reproduction and have been identified as important factors for establishing harmony in the honeybee (Apis mellifera) colony. However, "anarchic workers", which can evade both mechanisms, have been detected at low frequency in several honeybee populations. Worker bees of the Cape honeybee, Apis mellifera capensis, also show this anarchistic trait but to an extreme degree. They can develop into so called "pseudoqueens", which release a pheromonal bouquet very similar to that of queens. They prime and release very similar reactions in sterile workers to those of true queens (e.g. suppress ovary activation; release retinue behavior). Here we show in an experimental bioassay that lethal fights between these parasitic workers and the queen (similar to queen–queen fights) occur, resulting in the death of either queen or worker. Although it is usually the queen that attacks the parasitic workers and kills many of them, in a few cases the workers succeeded in killing the queen. If this also occurs in a parasitized colony where the queen encounters many parasitic workers, she may eventually be killed in one of the repeated fights she engages in.     

Toxics Use Reduction in the Home: Lessons Learned from Household Exposure Studies

Workers and fence-line communities have been the first to benefit from the substantial reductions in toxic chemical use and byproducts in industrial production resulting from the Massachusetts Toxics Use Reduction Act (TURA). As TURA motivates reformulation of products as well as retooling of production processes, benefits could extend more broadly to large-scale reductions in everyday exposures for the general population. Household exposure studies, including those conducted by Silent Spring Institute, show that people are exposed to complex mixtures of indoor toxics from building materials and a myriad of consumer products. Pollutants in homes are likely to have multiple health effects because many are classified as endocrine disrupting compounds (EDCs), with the ability to interfere with the body’s hormone system. Product-related EDCs measured in homes include phthalates, halogenated flame retardants, and alkylphenols. Silent Spring Institute’s chemical analysis of personal care and cleaning products confirms many are potential sources of EDCs, highlighting the need for a more comprehensive toxics use reduction (TUR) approach to reduce those exposures. Toxics use reduction targeted at EDCs in consumer products has the potential to substantially reduce occupational and residential exposures. The lessons that have emerged from household exposure research can inform improved chemicals management policies at the state and national levels, leading to safer products and widespread health and environmental benefits.     

Probabilistic modeling of young children's overall lead exposure in France: integrated approach for various exposure media

OBJECTIVES: Emissions of lead into the environment (and thus its environmental concentrations) have decreased in recent years. We sought to estimate the overall lead exposure of children aged 6 months to 6 years (the population group most exposed and most sensitive to lead) in France through the various media (air, food, water, soils, and dust) and the respective contributions of each medium to the total dose. We have focused on the general population, leaving aside specific risk factors such as deteriorated lead paints. METHODS: We used the most recent French intake data for food and water, and a daily ingested quantity selected from the literature for soils and dust. Contamination data came from the first total diet study of contaminant levels in France (2000-2001), from regulatory testing of tap water (2004), a literature review of lead in urban soils, and a pilot study (2005) of lead in dust. Air quality monitoring measurements showed that the contribution of air could now be safely ignored. Weekly exposure doses were estimated with Monte Carlo simulations. RESULTS: Median weekly exposure dose was 7.5 microg/kg bw.week for children aged 6 months to 3 years and 4.7 for those aged from 3-6 years. 95th percentiles were 13.5 and 8.7 microg/kg bw.week. Exposure came mainly from food. The principal uncertainties are associated with quantification limits in food and water, representativeness and traceability of tap water samples, and absence of recent data about urban soil contamination. CONCLUSIONS: These results differ quite notably from earlier estimates and highlight the need, especially for policy-making purposes, to update exposure measurements for this metal.     

Social learning and sustainable communities: An interim assessment of research into sustainable communities projects in the UK

The delivery of many of the most pressing environmental issues will rely on changes in environmental attitudes and behaviour at community level. At a UN Special Session in 1997, the British Government highlighted its initiatives on Local Agenda 21 (LA21) and Going for Green (GFG) as significant advances. This paper adds a new perspective, drawing on the range of experiences of some of the research teams that have been working with local authorities on pilot Sustainable Community Projects (SCPs) in England and Scotland. It sheds light on three substantive themes: the tensions inherent in the implementation of internationally and nationally agreed goals through local action; the ambiguity of local agencies acting as facilitators of community ownership of processes, and the requirements for successful partnership between local authorities and higher education.     

WEATHER AND CLIMATE EXTREMES,CLIMATE CHANGE,AND PLANNING: Views of Community Water System Managers in Pennsylvania's Susquehanna River Basin1

ABSTRACT: This research examines the sensitivity and vulnerability of community water systems (CWSs) to weather and climate in the Pennsylvania portion of the Susquehanna River Basin. Three key findings emerge from a survey of 506 CWS managers. First, CWSs are sensitive to extreme weather and climate, but that sensitivity is determined more by type of system than system size. CWSs that rely partly or wholly on surface water face more disruptions than do groundwater systems. Larger systems have more problems with flooding, and size is not a significant determinant of outages from storms or disruptions from droughts. Second, CWS managers are unsure about global warming. Few managers dismiss global warming; most think global warming could be a problem but are unwilling to consider it in their planning activities until greater scientific certainty exists. Third, the nature of the CWS, its sensitivity to weather and climate, and projected risks from weather and climate are insignificant determinants of how managers plan. Experienced, full-time managers are more likely to consider future weather and climate scenarios in their planning, while inexperienced and part-time managers are less likely to do so. Implications of these findings include support for efforts to move away from surface water, for clear communication of climate change information, and for the hiring and retention of full-time professional CWS managers.     

Compound urban crises

The crises that cities face—such as climate change, pandemics, economic downturn, and racism—are tightly interlinked and cannot be addressed in isolation. This paper addresses compound urban crises as a unique type of problem, in which discrete solutions that tackle each crisis independently are insufficient. Few scholarly debates address compound urban crises and there is, to date, a lack of interdisciplinary insights to inform urban governance responses. Combining ideas from complex adaptive systems and critical urban studies, we develop a set of boundary concepts (unsettlement, unevenness, and unbounding) to understand the complexities of compound urban crises from an interdisciplinary perspective. We employ these concepts to set a research agenda on compound urban crises, highlighting multiple interconnections between urban politics and global dynamics. We conclude by suggesting how these entry points provide a theoretical anchor to develop practical insights to inform and reform urban governance.     

Lessons from the 2006 Louisiana health and population survey

The 2005 hurricane season caused extensive damage and induced a mass migration of approximately 1.1 million people from southern Louisiana in the United States. Current and accurate estimates of population size and demographics and an assessment of the critical needs for public services were required to guide recovery efforts. Since forecasts using pre-hurricane data may produce inaccurate estimates of the post-hurricane population, a household survey in 18 hurricane-affected parishes was conducted to provide timely and credible information on the size of these populations, their demographics and their condition. This paper describes the methods used, the challenges encountered, and the key factors for successful implementation. This post-disaster survey was unique because it identified the needs of the people in the affected parishes and quantified the number of people with these needs. Consequently, this survey established new population and health indicator baselines that otherwise would have not been available to guide the relief and recovery efforts in southern Louisiana.