Prenatal diagnosis of CLCN4-related neurodevelopmental disorder in fetuses with congenital brain anomalies

We report two male fetuses born to a healthy unrelated couple, with agenesis of the corpus callosum identified on detailed 20-week ultrasound scans and confirmed by in-utero MRI. Whole-genome sequencing identified a likely pathogenic missense variant in the CLCN4 gene, establishing this as the causative gene in the family. Pathogenic variants in the CLCN4 gene cause a neurodevelopmental disorder (also called Raynaud-Claes syndrome) inherited in an X-linked pattern. The disorder is characterised by developmental delay, intellectual disability, autism spectrum disorder, epilepsy, mental health conditions, and significant feeding difficulties, predominantly, but not exclusively, affecting males. This is the first report of a prenatal phenotype associated with variants in the CLCN4 gene. The diagnosis of the CLCN4-related neurodevelopmental disorder in this family allowed accurate genetic counseling and discussion of reproductive choices. This leaves uncertainty about the possibility of a postnatal neurodevelopmental phenotype in heterozygous females, which we discuss.     

Development of a waterjet system for direct delivery of granular iron and activated carbon to remediate contaminated aqueous sediments

While the techniques and technologies associated with contaminated sediment remediation are relatively mature, there are several issues associated with these practices that make them unattractive. The inability of currently used mechanical mixing implements to place amendments in aqueous environments and their intrusive behavior toward benthic communities are just two examples of a necessity for an improved delivery method. Waterjets may be a viable option for placement of particulate remediation amendments, such as activated carbon and granular iron, at depth. A custom waterjet nozzle and injection system has been fabricated by the authors to examine this delivery concept. The developed injection system's performance was tested by characterizing the waterjet‐delivered amendment (activated carbon and granular iron) distributions in a surrogate sediment. The delivered amendment distributions followed similar patterns for a range of injection times and a variety of amendments. The injection depths, however, were dependent upon the type of amendment being injected. These findings have led to a better understanding of what occurs during an amendment injection, which can be used for a more controlled placement of remediation amendments using this technique in the future. The laboratory results indicate that the subject waterjet system may have the potential for field‐scale applications, especially for granular iron delivery, as the authors were able to place between 60 and 70 wt percent into a surrogate sediment bed along the path of injection. © 2011 Wiley Periodicals, Inc.     

Metal mobility during in situ chemical oxidation of TCE by KMnO4

The potential for trace-metal contamination of aquifers as a side effect of In Situ Chemical Oxidation (ISCO) of chlorinated solvent contamination by KMnO(4) is investigated with column experiments. The experiments investigate metal mobility during in situ chemical oxidation of TCE by KMnO(4) under conditions where pH, flow rate, KMnO(4), TCE, and trace-metal concentrations were controlled. During ISCO, the injection of MnO(4) creates oxidizing conditions, and acidity released by the reactions causes a tendency toward low pH in aquifers. In order to evaluate the role of pH buffering on metal mobility, duplicate columns were constructed, one packed with pure silica sand, and one with a mixture of silica sand and calcite. Aqueous solutions of TCE and KMnO(4) (with 1 mg/L Cu, Pb, Zn, Mo, Ni, and Cr(VI)) were allowed to mix at the inlet to the columns. After the completion of the experiments, samples of Mn oxide were removed from the columns and analyzed by analytical scanning and transmission electron microscopy. In order to relate the results of the laboratory experiments to field settings, the analyses of Mn-oxide samples from the lab experiments were compared to samples of Mn oxide collected from a field-scale chemical-oxidation experiment that were also analyzed by analytical electron microscopy as well as time-of-flight secondary-ion mass spectroscopy. The pH ranged from 2.40 in the silica sand column to 6.25 in the calcite-containing column. The data indicate that aqueous Mo, Pb, Cu and Ni concentrations are attenuated almost completely within the columns. In contrast, Zn concentrations are not significantly attenuated and Cr(VI) is transported conservatively. The results indicate that within the range 2.40 to 6.25, metal mobility is not affected by pH. Comparison of analyses of Mn-oxide from the lab and field demonstrate that a variety of metals are sequestered from solution by Mn oxide.     

Antimicrobial potential of the ionophore monensin on freshwater biofilm bacteria

Microorganisms play key roles in stream ecosystems, but comparatively little is known about the resilience of freshwater bacterial communities and their susceptibility to the chemical by-products of agricultural land use. Antibiotics used in the agricultural sector are of particular concern and have been detected in waterways associated with agricultural land. Despite widespread agricultural intensification globally and the sector's high antibiotic use, the effects of agricultural antibiotic by-products on stream microbial communities have yet to be characterised. We investigated the impacts of the antibiotic monensin on microbial biofilm communities in a simulated contamination event using streamside-replicated channels. A 24-h pulse experiment in flow channels precolonised by stream biofilm microbial communities contrasted the effects of monensin concentrations ranging from realistic to extreme toxicity levels (1–550 ug L^?1). Biofilm community composition was characterised immediately before and after the pulse for several weeks using automated ribosomal intergenic spacer analysis. Despite applying acutely toxic levels of monensin, only limited effects to biofilm community composition were detected immediately after antibiotic application, and these disappeared within 4 days. Rather, temporal factors drove biofilm differences, highlighting the overriding importance of wider, catchment-level, physiochemical hydrological influences on structuring freshwater biofilm communities, as opposed to localised and sporadic agricultural surface runoff contamination events containing antibiotics.     

Metal levels in body tissues, forage and fecal pellets of elk (Cervus elaphus) living near the ore smelters at Sudbury, Ontario.

Ontario's only free-ranging elk herd located at Burwash-French River has been subjected to the influence of historic copper-nickel-iron (Cu-Ni-Fe) ore smelting operations within the Sudbury area. Metal levels in selected body tissues, preferred forage items and fecal pellets were determined, and their potential effects on health and reproductive viability assessed. Significant age effects were apparent in 13 out of 31 tissue metal values obtained, with most age-related differences attributable to elevated concentrations in fetal tissues. Cu and zinc (Zn) levels were four to six times higher in livers and one and a half to two times higher in the bones of fetuses as compared to post-natal animals. Enhanced pre-natal tissue burdens were also noted for cobalt (Co), Ni and lead (Pb) in muscles. However, mean cadmium (Cd) levels in kidney, liver and muscle tissues, as well as hepatic Fe concentrations, showed significant increases with age. Although Cd levels in the kidneys of older elk were still well below the reported threshold for irreversible organ damage, and not considered to be health-threatening, detailed histological study of the cortical tissues for subtle pathotoxicological effects may be warranted. Unlike renal and hepatic tissues, Cd concentrations in skeletal muscle were minimal and within levels considered acceptable for human consumption. Forage species collected in the elk range generally showed higher (two to eight times) Ni and Fe levels than the corresponding plants from a non-contaminated reference site. The highest Ni and Fe burdens were carried by eastern white cedar, a preferred winter food item for elk. No consistent site-related trends were demonstrated by Cu, Zn, Co, Pb, chromium (Cr) and Cd forage levels. Mean metal concentrations in fecal pellets generally exceeded the mean composite forage levels by a factor of 3, except for Ni, which was five times more concentrated in feces. Significantly elevated Ni and Fe levels in preferred browse species and fecal pellets of the Sudbury-area elk could be of concern and warrant further investigation.     

Harnessing the bonanza: economic liberalization and capacity building in the mineral sector

Over the past decade many developing and transition economies have liberalized their investment regimes for mining and privatized formerly state-owned mineral assets. In response, these economies have witnessed increased foreign investment in exploration and development, growth in the number and diversity of mineral projects, and the opening up of new channels for harnessing increased economic and social benefits from development in the minerals sector. The restructuring of fiscal and regulatory regimes to encourage foreign investment, and the associated influx of mining capital, technology and skills, is transforming traditional relationships between mining firms, local communities and the government. This transformation necessitates a re-evaluation of the most effective policy approaches to capture increased economic and social benefits from mineral production. This article considers effective mechanisms for improving the capacity of developing and transition countries to maximize the economic and social benefits of mineral production. Common challenges associated with minerals economies are reviewed. Consideration is given to the opportunities for harnessing foreign direct investment and the possibilities for creating new partnerships between local communities, industry, government, and multilateral development agencies through social investment projects. The article concludes with a series of recommendations for the design and implementation of policy approaches towards harnessing mineral production for economic and social benefit following the liberalization of investment regimes for mining.     

How has a shortage of census and geological information impeded the regularization of artisanal and small‐scale mining?

There is growing consensus that a combination of laissez‐faire policies, ad hoc regulation and debilitating support services has perpetuated socio‐economic and environmental deterioration in the artisanal and small‐scale mining (ASM) industry. However, a lack of anthropological and geological information on ASM prevents many governments both from improving the policy environment of the industry, and from providing more robust extension services to its operators. This article aims to examine more precisely how a deficiency of baseline census and geological data has inhibited industry formalization and undermined many of the measures implemented to address pressing problems at ASM sites. Specifically, it is argued that insufficient knowledge of artisanal mining populations — including their demographic structure — and of areas suitable for ASM activities affects the ability of a government to regularize, as well as to improve, the organization of this largely informal sector of industry. Case studies of Ghana and Zimbabwe are used to illustrate how the undertaking of low‐budget projects in areas of geological prospecting and population analysis could improve the efficiency of ASM assistance.     

ALTERED STREAMFLOW AND SEDIMENT ENTRAINMENT IN THE GUNNISON GORGE1

ABSTRACT: The Gunnison River in the Gunnison Gorge is a canyon river where upstream dams regulate mainstem discharge but do not affect debris-flow sediment supply from tributaries entering below the reservoirs. Regulation since 1966 has altered flood frequency, streambed mobility, and fluvial geomorphology creating potential resource-management issues. The duration of moderate streamflows between 32.3 and 85.0 m³/s has increased threefold since 1966. This, along with flood-peak attenuation, has facilitated fine-sediment deposition and vegetation encroachment on stream banks. The Shields equation and on-site channel geometry and bed-material measurements were used to assess changes in sediment entrainment in four alluvial reaches. Sand and fine gravel are transported through riffle/pool reaches at most discharges, but the cobbles and boulders composing the streambed in many reaches now are infrequently entrained. Periodic debris flows add coarse sediment to rapids and can increase pool elevation and the streambed area affected by backwater and fine-sediment accumulation. Debris-flow supplied boulders accumulate on fans and in rapids and constrict the channel until reworked by larger floods. The response to streamflow-régime changes in the Gunnison Gorge could serve as an analog for alluvial reaches in other regulated canyon rivers.