Prenatal diagnosis of mucopolysaccharidosis type VII facilitating treatment in neonatal period

Duo exome testing was performed on a fetus conceived via in vitro fertilization with an egg donor. The fetus presented with non-immune hydrops fetalis (NIHF) at 20 + 0 weeks gestation. Two variants were detected in the GUSB gene. Biallelic pathogenic variants cause mucopolysaccharidosis type VII (MPS-VII), which can present with NIHF prenatally. At the time of analysis and initial report, one variant was classified as likely pathogenic and the other as of uncertain clinical significance. Biochemical testing of the amniotic fluid supernatant showed elevated glycosaminoglycans and low β-glucuronidase activity consistent with the diagnosis of MPS-VII. This evidence allowed the upgrade of the pathogenicity for both variants, confirming the diagnosis of MPS-VII. The infant was born at 36 + 5 weeks and enzyme replacement therapy (ERT) using vestronidase was initiated at 20 days with planning for hematopoietic stem cell transplant ongoing. The ERT therapy has been well tolerated, with decreasing quantitative urine glycosaminoglycans. Long-term follow up is required to determine whether treatment has been successful. This case demonstrates the utility of alternative testing methods to clarify the pathogenicity of variants and the clinical utility of obtaining a diagnosis antenatally in facilitating treatment in the neonatal period, and specifically highlights MPS-VII as a treatable cause of NIHF.     

Environmental Subsidiarity as a Guiding Principle for Forestry Governance: Application to Payment for Ecosystem Services and REDD+ Architecture

This article describes and proposes the “environmental subsidiarity principle” as a guiding ethical value in forestry governance. Different trends in environmental management such as local participation, decentralization or global governance have emerged in the last two decades at the global, national and local level. This article suggests that the conscious or unconscious application of subsidiarity has been the ruling principle that has allocated the level at which tasks have been assigned to different agents. Based on this hypothesis this paper describes the principle of subsidiarity and its application to environmental policies within forest governance and proposes the “environmental subsidiarity” principle as a critical conceptual tool for sustainable resource management. The paper explains as an example how “environmental subsidiarity” is the key principle that can link payment for ecosystem services (PES) with environmental public policies and applies this principle with all its political consequences to reducing emissions from deforestation and forest degradation, and enhancing forest carbon stocks in developing countries (REDD+) architecture. It concludes by showing how the adoption of “environmental subsidiarity” as a ethical principle could help to maximize benefits to all stakeholders involved in PES schemes such as REDD+.     

Inter- and intra-specific diurnal habitat selection of zooplankton during the spring bloom observed by Video Plankton Recorder

Diel vertical migration (DVM) is a common behavior adopted by zooplankton species. DVM is a prominent adaptation for avoiding visual predation during daylight hours and still being able to feed on surface phytoplankton blooms during night. Here, we report on a DVM study using a Video Plankton Recorder (VPR), a tool that allows mapping of vertical zooplankton distributions with a far greater spatial resolution than conventional zooplankton nets. The study took place over a full day–night cycle in Disko Bay, Greenland, during the peak of the phytoplankton spring bloom. The sampling revealed a large abundance of copepods performing DVM (up during night and down during day). Migration behavior was expressed differently among the abundant groups with either a strong DVM (euphausiids), an absence of DVM (i.e., permanently deep; ostracods) or a marked DVM, driven by strong surface avoidance during the day and more variable depth preferences at night (Calanus spp.). The precise individual depth position provided by the VPR allowed us to conclude that the escape from surface waters during daytime reduces feeding opportunities but also lowers the risk of predation (by reducing the light exposure) and thereby is likely to influence both state (hunger, weight and stage) and survival. The results suggest that the copepods select day and night time habitats with similar light levels (~10^?9 μmol photon s^?1 m^?2). Furthermore, Calanus spp. displayed state-dependent behavior, with DVM most apparent for smaller individuals, and a deeper residence depth for the larger individuals.     

Sigma virus and male reproductive success in Drosophila melanogaster

The risk of disease transmission can affect female mating rate, and thus sexual conflict. Furthermore, the interests of a sexually transmitted organism may align or diverge with those of either sex, potentially making the disease agent a third participant in the sexual arms race. In Drosophila melanogaster, where sexual conflict over female mating rate is well established, we investigated how a common, non-lethal virus (sigma virus) might affect this conflict. We gave uninfected females the opportunity to copulate twice in no-choice trials: either with two uninfected males, or with one male infected with sigma virus followed by an uninfected male. We assessed whether females respond behaviorally to male infection, determined whether male infection affects either female or male reproductive success, and measured offspring infection rates. Male infection status did not influence time to copulation, or time to re-mating. However, male infection did affect male reproductive success: first males sired a significantly greater proportion of offspring, as well as more total offspring, when they were infected with sigma virus. Thus viral infection may provide males an advantage in sperm competition, or, possibly, females may preferentially use infected sperm. We found no clear costs of infection in terms of offspring survival. Viral reproductive success (the number of infected offspring) was strongly correlated with male reproductive success. Further studies are needed to demonstrate whether virus-induced changes in reproductive success affect male and female lifetime fitness, and whether virus-induced changes are under male, female, or viral control.     

Occupational safety and health in Spain

Occupational Health and Safety in Spain has improved considerably over the last decade, most likely due to a new concept where an overall concept of safety culture is defined. Important changes in industrial safety, hygiene, and psychosocial factors present an optimistic panorama for the future of Spain. Despite this general improvement, according to the European Convergence Program, Spanish statistics still offer far from good safety results. In fact, according to 1997 official statistics, Spain had the highest incidence rate for nonfatal occupational accidents of all European Union (EU) countries, and occupied third place for fatal accidents. This paper summarizes the organizational structure of the Spanish National System of Health & Safety at Work, its effective health and safety laws, and statistics on the Spanish work environment obtained from III Spanish National Survey on Work Conditions (1997). The researchers hope that the findings of this work will have an impact on Spanish industry that will subsequently bring about improvements in work conditions and develop assessment and intervention models in occupational health and safety, from a theoretical position integrating environmental, human, and organizational factors.     

Jack pine growth and elemental composition are affected by saline tailings water

In the processing of oil sands from Alberta's Athabasca formation, large quantities of alkaline, saline tailings and associated process-affected waters are produced. These waters may have a negative effect on plants used in reclamation of mined areas in this region of the northern boreal forest. In the present study, we examined the effects of process-affected water on the growth and elemental composition of jack pine (Pinus banksiana Lamb.) seedlings. Seedlings were grown in sand culture, and treated with tailings water to which mineral nutrients had been added. One-month-old seedlings were treated for 14 d, and all measured growth parameters were reduced. Growth and shoot elemental composition were also measured in seven-month-old seedlings that were treated for 10 wk with process-affected water. Shoots had significantly elevated levels of Na, Cl, S, P, B, and Sr, and significantly reduced levels of Fe, Mo, Ba, and K. The relationships between elemental composition and seedling growth and injury were examined using multiple regression. Growth rates, dry weights, and carotenoid content were reduced, but were not related to shoot elemental composition. Needle necrosis was positively related to tissue Na and Cl. Results indicate that reclamation planning must consider substrate Na and Cl levels when planting jack pine on tailings-affected sites.     

Dealing with electronic waste: modeling the costs and environmental benefits of computer monitor disposal

The importance of information technology to the world economy has brought about a surge in demand for electronic equipment. With rapid technological change, a growing fraction of the increasing stock of many types of electronics becomes obsolete each year. We model the costs and benefits of policies to manage 'e-waste' by focusing on a large component of the electronic waste stream-computer monitors-and the environmental concerns associated with disposal of the lead embodied in cathode ray tubes (CRTs) used in most monitors. We find that the benefits of avoiding health effects associated with CRT disposal appear far outweighed by the costs for a wide range of policies. For the stock of monitors disposed of in the United States in 1998, we find that policies restricting or banning some popular disposal options would increase disposal costs from about US dollar 1 per monitor to between US dollars 3 and US dollars 20 per monitor. Policies to promote a modest amount of recycling of monitor parts, including lead, can be less expensive. In all cases, however, the costs of the policies exceed the value of the avoided health effects of CRT disposal.     

Development of a decision support system for Prioritization of multimedia dischargers

In 1990 the Environmental Protection Agency (EPA) began sponsoring several pilot projects in its regional offices to examine the potential benefits of adopting a multimedia approach to facility management. This approach differs from traditional practices at EPA in that facilities (dischargers regulated under permits issued by the agency) are managed based upon their cumulative impacts to all media: air, water, and land. Currently, facilities are managed by separate programs at EPA that evaluate environmental impacts from a single-media perspective. One aspect of discharger management is the necessity to allocate limited financial resources in a way that will minimize risk to human health and the environment. A careful, risk-based prioritization of facilities is one means of providing insight to the most effective strategy of allocating monitoring, inspection, and enforcement resources. Prioritization from a multimedia perspective is particularly difficult, however, since it requires translation and integration of medium-specific facility performances, management objectives, and perceptions of risk into a cumulative rating. A computerized decision support system (DSS) designed to guide management through the prioritization process from a multimedia perspective was identified as a potentially valuable tool for use in the pilot projects. This article describes the development of such a prototype, outlines the features of the completed system, and discusses its potential for use at EPA.     

A conceptual model of the role of complex science in local authority consultations about air quality management

There exists a clear imperative across the EU and within the UK towards the enhanced integration of community knowledge in environmental and health decision-making processes. The underlying social force that underpins this dynamic is the drive for a more accountable, transparent and publicly acceptable decision-making arena. However, relatively little research has been undertaken on the evaluation of local air quality management consultation in particular. In this context, the paper presents an evaluation of evidence resulting from questionnaire survey and case study research undertaken in the first round of the statutory process of local air quality management (LAQM), in which local authorities are required to consult on their air quality findings and intentions. We suggest that local authority perceptions of the relative abilities of differing stakeholders' grasp of air quality science, the process that translates that science into policy, and the institutional and organizational status of stakeholders (i.e. whether they are statutory or non-statutory stakeholders) may tend to transitively determine the choice of consultation methods used, the communication strategies chosen and the relative integration of stakeholder feedback into the LAQM decision-making process. In order to interrogate this potentially problematic chain of risk communication events, a preliminary conceptual model has been developed to enable the interrogation of the pathways through, and the obstacles to, the translation of air quality knowledge. The task is to unveil the sequential chains of association that comprise the LAQM risk communication process.