Prenatal diagnosis of Myhre syndrome with a heterozygous pathogenic variant in SMAD4 gene presented with thick nuchal translucency and cardiac abnormalities

Prenatal testing was performed in a 39-year-old Chinese pregnant woman referred for increased nuchal translucency measuring 5.7 mm. Non-invasive prenatal testing and SNP array study on amniotic fluid samples were normal. Whole exome sequencing (WES) was initiated further as the fetus had pericardial effusion of 1.2 mm, thickened myocardium over the right ventricular lateral wall and aberrant right subclavian artery. A detailed fetal echocardiogram also revealed persistent left superior vena cava and dilated coronary sinus at 20 weeks. From whole exome sequencing of the trio, a de novo heterozygous variant NM_005359.5(SMAD4): c.1499T>C (p.Ile500Thr) was detected. This pathogenic variant has been reported in the postnatal case cohort of Myhre syndrome. This condition is characterized by facial dysmorphism, intellectual disability, hearing loss, skeletal abnormalities and potential life threatening respiratory or cardiovascular manifestations. Termination of pregnancy was performed at 23 weeks. Small chins, pre-axial polydactyly, brachydactyly and clinodactyly were noted in the abortus. Ultrasound findings of increased nuchal translucency, thickened myocardium and pericardial effusion prompted further genetic evaluation for the prenatal diagnosis of Myhre syndrome by whole exome sequencing.     

Examining the coupling of carbon and nitrogen cycles in Appalachian streams: the role of dissolved organic nitrogen

Although regional and global models of nitrogen (N) cycling typically focus on nitrate, dissolved organic nitrogen (DON) is the dominant form of nitrogen export from many watersheds and thus the dominant form of dissolved N in many streams. Our understanding of the processes controlling DON export from temperate forests is poor. In pristine systems, where biological N limitation is common, N contained in recalcitrant organic matter (OM) can dominate watershed N losses. This recalcitrant OM often has moderately constrained carbon:nitrogen (C:N) molar ratios (approximately 25-55) and therefore, greater DON losses should be observed in sites where there is greater total dissolved organic carbon (DOC) loss. In regions where anthropogenic N pollution is high, it has been suggested that increased inorganic N availability can reduce biological demand for organic N and therefore increase watershed DON losses. This would result in a positive correlation between inorganic and organic N concentrations across sites with varying N availability. In four repeated synoptic surveys of stream water chemistry from forested watersheds along an N loading gradient in the southern Appalachians, we found surprisingly little correlation between DON and DOC concentrations. Further, we found that DON concentrations were always significantly correlated with watershed N loading and stream water [NO3-] but that the direction of this relationship was negative in three of the four surveys. The C:N molar ratio of dissolved organic matter (DOM) in streams draining watersheds with high N deposition was very high relative to other freshwaters. This finding, together with results from bioavailability assays in which we directly manipulated C and N availabilities, suggests that heterotrophic demand for labile C can increase as a result of dissolved inorganic N (DIN) loading, and that heterotrophs can preferentially remove N-rich molecules from DOM. These results are inconsistent with the two prevailing hypotheses that dominate interpretations of watershed DON loss. Therefore, we propose a new hypothesis, the indirect carbon control hypothesis, which recognizes that heterotrophic demand for N-rich DOM can keep stream water DON concentrations low when N is not limiting and heterotrophic demand for labile C is high.     

Reducing fall risk by improving balance control: development, evaluation and knowledge-translation of new approaches

Problem

Falling is a leading cause of serious injury, loss of independence, and nursing-home admission in older adults. Impaired balance control is a major contributing factor.

Methods

Results from our balance-control studies have been applied in the development of new and improved interventions and assessment tools. Initiatives to facilitate knowledge-translation of this work include setting up a new network of balance clinics, a research-user network and a research-user advisory board.

Results

Our findings support the efficacy of the developed balance-training methods, balance-enhancing footwear, neuro-prosthesis, walker design, handrail-cueing system, and handrail-design recommendations in improving specific aspects of balance control.

Impact on Knowledge Users

A new balance-assessment tool has been implemented in the first new balance clinic, a new balance-enhancing insole is available through pharmacies and other commercial outlets, and handrail design recommendations have been incorporated into 10 Canadian and American building codes. Work in progress is expected to have further impact.     

Local physical habitat quality cloud the effect of predicted pesticide runoff from agricultural land in Danish streams

The combination of intensive agricultural activities and the close connectivity between land and stream emphasise the potential risk of pesticide exposure in Danish streams. Benthic macroinvertebrates are applied in the assessment of stream ecological status, and some sensitive species have been shown to respond strongly to brief pulses of pesticide contamination. In this study we investigate the impact of agriculturally derived pesticides on stream macroinvertebrate communities in Denmark. As a measure of toxic pressure we apply the Runoff Potential. We investigated a total of 212 streams. These were grouped into distinct classes according to the magnitude of pesticide contamination in the period from 2003-2006. A total of 24 different macroinvertebrate indices were applied to detect effects of pesticide runoff (e.g. the SPEAR-index and the number of EPT taxa). We found high predicted pesticide runoff in 39% of the streams, but we found no significant effect of predicted pesticide exposure on stream macroinvertebrate indices. We, additionally, examined the influence of a series of environmental parameters ranging from site scale to catchment scale on the macroinvertebrate community. Relative proportions of gravel, sand and silt in bed sediments explained most of the variation in macroinvertebrate indices as well as the upstream riparian habitat quality. We suggest that the Runoff Potential model overestimate pesticide runoff contamination in Danish streams due the presence of buffer strips enforced by Danish legislation. When pesticide runoff contamination is low to moderate, poor physical properties (indirectly related to agricultural activity) are the main impediment for the ecological quality of Danish streams.     

Experimental measurements and numerical simulations of the transport and retention of nanocrystal CdSe/ZnS quantum dots in saturated porous media: effects of pH,organic ligand,and natural organic matter

Environmental Science and Pollution Research - The risks of environmental exposures of quantum dot (QD) nanoparticles are increasing, but these risks are difficult to assess because fundamental...     

Constructed wetlands integrated with microbial fuel cells for COD and nitrogen removal affected by plant and circuit operation mode

Environmental Science and Pollution Research - Organic matter and NH4+-N are two major pollutants in domestic sewage. This study evaluated the influence of plant and circuit operation mode on the...     

Identifying Key Factors in Homeowner’s Adoption of Water Quality Best Management Practices

The recognition of the significance of the residential environment in contributing to non-point source (NPS) pollution and the inherently dispersed nature of NPS pollution itself that presents significant challenges to effective regulation has led to the creation and dissemination of best management practices (BMPs) that can reduce the impacts of NPS pollution (Environmental Protection Agency US, Protecting water quality from urban runoff, http://www.epa.gov/npdes/pubs/nps_urban-facts_final.pdf, 2003). However, very few studies have examined the factors that influence the adoption of BMPs by residential homeowners, despite the fact that residential environments have been identified as one of the most significant contributors to NPS pollution. Given this need, the purpose of this project was to explore how demographic and knowledge-based factors predict adoption of residential BMPs in an urbanizing watershed in Northern Illinois using statistical analyses of survey data collected as part of a watershed planning process. The findings indicate that broad knowledge of BMPs is the strongest predictor of use for a specific BMP. Knowledge of BMPs is strongly correlated with their use, which reinforces the need for educational programs, even among those assumed to be knowledgeable about BMPs.     

Evaluation of Operational National Weather Service Gridded Flash Flood Guidance over the Arkansas Red River Basin

National Oceanic and Atmospheric Administration's National Weather Service (NWS) flash flood warnings are issued by Weather Forecast Offices and are underpinned by information from the Flash Flood Guidance (FFG) system operated by the River Forecast Centers (RFCs). This study focuses on the quantitative evaluation and limitations of the FFG system using reported flash flood cases in 2010 and 2011. The flash flood reports were obtained from the NWS Storm Event database for the Arkansas‐Red Basin RFC (ABRFC). The current FFG system at the ABRFC provides gridded flash flood guidance (GFFG) system using the NWS Hydrology Laboratory‐Research Distributed Hydrologic Model to translate the upper zone soil moisture to estimates of Soil Conservation Service Curve Numbers. Comparisons of the GFFG and real‐time Multisensor Precipitation Estimator‐derived Quantitative Precipitation Estimate for the same duration and location were used to analyze the success of the system. Typically, the six‐hour duration was characterized by higher probability of detection values than the three‐hour duration, which highlights the difficulty of hydrologic process estimation for shorter time scales. The current system does not take into account physical characteristics such as land use, including irrigated agricultural farm and urban areas, hence, overly dry soil moisture estimates over these areas can lower the success rate of the GFFG product.     

How to facilitate (or discourage) community-based research: recommendations based on a Canadian survey

The impact of the extreme heat wave that affected Melbourne, Australia, in two distinct phases in January and February 2009 was severe, with 374 (heat) and 173 (bushfire) excess deaths. Whilst the human health issues have been covered in detail in policy and academic arenas, much less attention has been paid to the adverse impacts on urban infrastructure. Analysis of this event, underpinned by participatory actor-based research, has shown that the impacts were experienced disproportionately across different infrastructure types. For water, telecommunications and airports, the impacts were relatively minor and the impact on rail transport and roads (and to a lesser extent, seaports) was of moderate significance, whereas research findings indicate that the electricity sector was found to be the most vulnerable. This paper focuses on the sectors that were worst impacted: electricity, rail and road transport. Commentary identifies the direct and indirect impacts of the heat event, including associated cascading effects, as well as considering actual and potential adaptation responses both before and after the event. Concluding, the authors reflect on the implications of the heat wave for urban resilience, emphasising the crucial importance of understanding the urban environment as a complex and interconnected system.     

Global information sampling in the honey bee

Central to the question of task allocation in social insects is how workers acquire information. Patrolling is a curious behavior in which bees meander over the face of the comb inspecting cells. Several authors have suggested it allows bees to collect global information, but this has never been formally evaluated. This study explores this hypothesis by answering three questions. First, do bees gather information in a consistent manner as they patrol? Second, do they move far enough to get a sense of task demand in distant areas of the nest? And third, is patrolling a commonly performed task? Focal animal observations were used to address the first two predictions, while a scan sampling study was used to address the third. The results were affirmative for each question. While patrolling, workers collected information by performing periodic clusters of cell inspections. Patrolling bees not only traveled far enough to frequently change work zone; they often visited every part of the nest. Finally, the majority of the bees in the middle-age caste were shown to move throughout the nest over the course of a few hours in a manner suggestive of patrolling. Global information collection is contrary to much current theory, which assumes that workers respond to local information only. This study thus highlights the nonmutually exclusive nature of various information collection regimes in social insects.