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.     

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.     

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.     

Fat and fed: frequent use of summer torpor in a subtropical bat

A widely held view is that torpor is avoided by mammals whenever possible because of potential costs associated with reduced body temperatures and slowed metabolic processes. We examined this hypothesis by quantifying use of torpor in relation to body condition of free-ranging northern long-eared bats (Nyctophilus bifax, approximately 10 g), a species known to hibernate, from a subtropical region during the austral summer when insects were abundant. Temperature-telemetry revealed that bats used torpor on 85% of observation days and on 38% of all nights. Torpor bouts ranged from 0.7 to 21.2 h, but the relationship between duration of torpor bouts and ambient temperature was not significant. However, skin temperature of torpid bats was positively correlated with ambient temperature. Against predictions, individuals with a high body condition index (i.e., good fat/energy reserves) expressed longer and deeper torpor bouts and also employed torpor more often during the activity phase at night than those with low body condition index. We provide the first evidence that use of torpor in a free-ranging subtropical mammal is positively related with high body condition index. This suggests that employment of torpor is maximised and foraging minimised not because of food shortages or low energy stores but likely to avoid predation when bats are not required to feed.     

Assessment of physico-chemical properties and metal contents of water and sediments of Bodo Creek,Niger Delta,Nigeria

Some physico-chemical properties and the concentrations of the metals Fe, Mn, Ni, Cd, Cr, Co, Cu, Pb, and Zn in water and sediments were examined from September 2011 to January 2012 in Bodo Creek, where oil spills have been recurrent. Temperature, pH, total dissolved solid, conductivity, salinity, dissolved oxygen, biological oxygen demand (BOD), chemical oxygen demand (COD), total hardness, sulfate, nitrate, and phosphate were determined in surface water. Particle size, total organic matter (TOM), and pH were also determined in the sediments. The parameters were within permissible limits except the mean values of BOD, COD, total hardness, and sulfate that exceeded levels permissible for domestic use. The sediments consisted mainly of sand, with TOM ranging from 0.2% to 5.5%. With the exception of cadmium that was below detection limit, metal levels (mg kg^?1) in the sediments were 12 (Mn), 1070 (Fe), 10 (Cu), 10 (Zn), 5.3 (Cr), 1.1 (Pb), 1.0 (Ni), and 0.5 (Co) while in water they were 24, 98, 21, 6.9, 4.0, 0.6, 0.18, and 0.16, respectively. The latter were higher than World Health Organization recommended permissible levels for both surface and drinking water.