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.     

Prenatal diagnosis of PORCN-related developmental syndrome in a fetus: A novel phenotype

We report a case of a female fetus born to an unrelated couple with a complex fetal phenotype of a pleural effusion, a cardiac malformation, and syndactyly of the toes. Prenatal exome sequencing identified a variant of uncertain significance in the PORCN gene that was upgraded to likely pathogenic following postnatal clinical examination. The phenotype described in cases with variants in the PORCN gene is often associated with findings that cannot be prospectively diagnosed by ultrasonography. This is the first report of a prenatal phenotype involving a fetal effusion associated with variants in the PORCN gene, with skeletal findings identified later in gestation on ultrasonography. The diagnosis was confirmed on neonatal examination.     

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+.     

Prospects for repellent in pest control: current developments and future challenges

The overall interest in environmentally safe pest control methods and the rise of insecticide resistance in pest populations have prompted medical and agricultural entomology research on insect repellents in recent years. However, conducting research on repellent is challenging for several reasons: (1) the different repellent phenomena are not well defined; (2) it is difficult to test for and quantify repellent; (3) the physiological mechanisms are poorly known; (4) the field efficacy appears to be highly variable. Here, we identified five different types of repellent: expellency, irritancy, deterrency, odor masking and visual masking, and described behavioral bioassays to differentiate between them. Although these categories are currently defined by their behavioral response to different stimuli, we suggest new definitions based on their mechanism of action. We put forward three main hypotheses on the physiological mechanism: (1) a dose effect that modifies the behavior, (2) a repellent mechanism with specific receptors, or (3) inhibition of the transduction of neural information.     

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.     

A very unusual ‘groin’, the MV River Princess,Goa, India and its impacts upon tourism

On June 6, 2000, the Merchant Vessel River Princess – dead weight 114,645 tonnes and 261 m in length, grounded on the beach off the Candolim-Sinquerim coast, Goa, India, spilling some 40 tonnes of oil. In the past 10 years it has settled some 10 m into the sea bed and taken in circa 40,000 tonnes of sand. Until the ‘60’s the Goan economy centered on agriculture and fishing with very low key recreation. Over the last three decades it has become heavily reliant upon recreation, with 13 % of GDP arising from this sector. Nine million cubic metres of littoral drift occurs off this beach per annum, with the longshore current broken by rips into a series of circulating cells. The vessel acts as a massive groin so much so that downdrift, erosion of approximately 5 to 10 m/annum (dependent on the monsoon strength) is occurring at the Taj hotel site. Satellite imagery has shown that some 0.13 km² beach loss has occurred since 2001. Downdrift, the beach is circa 20 m wide compared to updrift areas where it exceeds 100 m. Embryo tombola growth has now commenced between shore and ship. In addition to this, the dune system is now seriously out of equilibrium and sand bags, geotextiles etc. are currently in use to combat dune foot erosion. Questionnaires (n?=?111) showed that 37 % of beach users ranked erosion as the top coastal problem. Sixty seven percent of beach users rated scenery as the most important quality of a beach and due to the grounded ship, >60 % rated the scenery as below average, as well as viewing the ship as a source of danger for swimming purposes.     

Temporal genetic variation in populations of the limpet Cellana grata from Hong Kong shores

Variations in the relative contributions of gene flow and spatial and temporal variation in recruitment are considered the major determinants of population genetic structure in marine organisms. Such variation can be assessed through repeated measures of the genetic structure of a species over time. To test the relative importance of these two phenomena, temporal variation in genetic composition was measured in the limpet Cellana grata, among four annual cohorts over 10 years at four rocky shores in Hong Kong. A total of 408 limpets, comprising individuals from 1998, 1999, 2006 and 2007 cohorts were screened for genetic variation using five microsatellite loci. Minor but significant genetic differentiation was detected among samples from the 1998/1999 collection (F _ST = 0.0023), but there was no significant differentiation among the 2006/2007 collection (F _ST = 0.0008). Partitioning of genetic variation among shores was also significant in 1998/1999 but not in the 2006/2007 collection, although there was no correlation between genetic and geographic distances. There was no significant difference between collections made in 1998/1999 and 2006/2007. This lack of clear structure implies a high level of gene flow, but differentiation with time may be the result of stochastic recruitment variation among shores. Estimates of effective population size were not high (599, 95% C.L. 352–11397), suggesting the potential susceptibility of the populations to genetic drift, although a significant bottleneck effect was not detected. These findings indicate that genetic structuring between populations of C. grata in space and time may result from spatio-temporal variation in recruitment, but the potential development of biologically significant differentiation is suppressed by a lack of consistency in recruitment variability and high connectivity among shores.     

Impact of organic manure on the phytoremediation potential of Vetiveria zizanioides in chromium-contaminated soil

Chromium is a pollutant present in electroplating waste water and its removal is necessary for the protection of the environment. Vetiveria zizanioides (VZ) was grown in chromium effluent concentrations of 50, 100 and 200 mg kg ^?1 soil amended with organic manure and the potential for phytoremediation was determined. The amounts of Cr in plant tissues (root and shoot), soil and percentage electrolyte leakage of VZ roots were analysed. From the results, VZ amended with organic manure showed the greatest potential for Cr removal because of its faster growth and larger biomass achieved over the whole length of the experiment. In this study, 92.25% Cr removal efficiency was obtained with a Cr concentration of 50 mg kg ^?1 soil and removal efficiencies of 90.5% and 85% were obtained with 100 and 200 mg kg^?1, respectively after a period of two months of VZ growth.