Prenatal diagnosis of SMPD4 loss - A neurodevelopmental disorder with microcephaly,arthrogryposis and structural brain anomalies

SMPD4 loss is a rare neurodevelopmental disorder that leads to severe mental and physical disability and early death in infancy. Most cases of this genetic condition have been diagnosed postnatally. This article focuses on the prenatal findings of affected fetuses. The phenotypes can include growth restriction, arthrogryposis (clenched hands, foot deformity), as well as cerebral abnormalities (simplified gyral pattern/lissencephaly, cerebellar hypoplasia, corpus callosum deformity). SMPD4 loss is detectable via exome sequencing. Here, two fetuses displayed a homozygotic pathogen variant in the SMPD4 gene, encoding for the enzyme Sphingomyelinase-4. Both parents were heterozygous carriers of the pathogenic variant. On detection of the above mentioned signs exome sequencing is indicated, with focus on the SMPD4 gene.     

Fish Mercury and Surface Water Sulfate Relationships in the Everglades Protection Area

Few published studies present data on relationships between fish mercury and surface or pore water sulfate concentrations, particularly on an ecosystem-wide basis. Resource managers can use these relationships to identify the sulfate conditions that contain fish with health-concerning total mercury (THg) levels and to evaluate the role of sulfate in methyl-mercury (MeHg) production. In this study, we derived relationships between THg in three fish trophic levels (mosquitofish, sunfish, and age-1 largemouth bass) and surface water sulfate from 1998 to 2009 for multiple stations across the Everglades Protection Area (EPA). Results show the relationship between sulfate and fish THg in each fish type is nonlinear and largely skewed, similar to the relationship between MeHg production and sulfate concentration in peatland sediment pore water identified by other researchers. Peak fish THg levels occurred in ~1 to 12 mg/L sulfate conditions. There was significant variability in the fish THg data, and there were several instances of high-fish THg levels in high-sulfate conditions (>30 mg/L). Health-concerning fish THg levels were present in all surface water sulfate conditions; however, most of these levels occurred in 1–20 mg/L sulfate. The data in this study, including recent studies, show consistent and identifiable areas of high- and low-fish THg across the spectrum of surface water sulfate concentration, therefore, applying an ecosystem-wide sulfur strategy may be an effective management approach as it would significantly reduce MeHg risk in the EPA.     

Cadmium, copper, lead, and zinc in Mugil cephalus from seven coastal lagoons of NW Mexico

The increasing order of the mean concentrations of Cd, Cu, and Zn in the tissues of Mugil cephalus of seven coastal lagoons of Sinaloa State (NW Mexico) was liver > gills > muscle, while for Pb it was gills > muscle ≥ liver. There were no differences between the mean concentrations of Cd and Pb of the three tissues determined in the samples of the seven lagoons and, although there were some significant differences, there was no indication of a latitude-related trend in the distribution of Cu and Zn: the Cu content of the muscle tended to be higher in the northern than in the southern lagoons, although in the case of the gills the highest and lowest mean values indicated an opposite trend, with the highest and lowest values in one southern and one northern lagoon. In the case of the liver, there were no differences and no indication of a regional trend. There were no differences in the mean Zn contents of muscle and gills; in the case of the liver, one of the lagoons of the central part of the state had a significantly higher value than one of the southern lagoons and all the rest had similar values. In addition, there was no clear indication of season-related differences in any of the three tissues. According to our results, the metal contents of the muscle of this species are not of concern for human health, since the allowable ingestion would be in the order of 0.9 kg/day.     

Operational Evapotranspiration Mapping Using Remote Sensing and Weather Datasets: A New Parameterization for the SSEB Approach

The increasing availability of multi‐scale remotely sensed data and global weather datasets is allowing the estimation of evapotranspiration (ET) at multiple scales. We present a simple but robust method that uses remotely sensed thermal data and model‐assimilated weather fields to produce ET for the contiguous United States (CONUS) at monthly and seasonal time scales. The method is based on the Simplified Surface Energy Balance (SSEB) model, which is now parameterized for operational applications, renamed as SSEBop. The innovative aspect of the SSEBop is that it uses predefined boundary conditions that are unique to each pixel for the “hot” and “cold” reference conditions. The SSEBop model was used for computing ET for 12 years (2000‐2011) using the MODIS and Global Data Assimilation System (GDAS) data streams. SSEBop ET results compared reasonably well with monthly eddy covariance ET data explaining 64% of the observed variability across diverse ecosystems in the CONUS during 2005. Twelve annual ET anomalies (2000‐2011) depicted the spatial extent and severity of the commonly known drought years in the CONUS. More research is required to improve the representation of the predefined boundary conditions in complex terrain at small spatial scales. SSEBop model was found to be a promising approach to conduct water use studies in the CONUS, with a similar opportunity in other parts of the world. The approach can also be applied with other thermal sensors such as Landsat.     

Speciation study of lead and manganese in roadside dusts from major roads in Ile-Ife,South Western Nigeria

A speciation study of Pb and Mn in roadside dust along major roads in Ile-Ife, South Western Nigeria, was investigated. Pb and Mn values obtained by total digestion ranged from 22.23 ± 3.52 to 43.48 ± 3.05 μg/g and 35.93±0.15 to 83.76 ± 0.06 μg/g, respectively. The results of speciation analysis of Pb and Mn in the samples showed that the mean levels of these metals in the various fractions followed the order: organic matter>residual>Fe-Mn>carbonate>exchangeable and organic matter-bound>exchangeable>carbonate-bound>residual>Fe-Mn oxide-bound respectively. The speciation study therefore revealed that most of the Pb and Mn were associated with the organic matter fraction and that they were least available in the exchangeable and Fe-Mn oxide fractions, respectively. The apparent mobility and potential bioavailability for these metals in the road dust was Mn>Pb. There is a significant difference between the means of Pb and Mn in the road dust of the study area at p≤0.05, which strongly suggests that they may not have come from the same source; different sources may be responsible, which may be anthropogenic, such as tyre wear, vehicular emission, brake linings and natural.     

Assessment of water quality monitoring for the optimal sensor placement in lake Yahuarcocha using pattern recognition techniques and geographical information systems

Pollution and the eutrophication process are increasing in lake Yahuarcocha and constant water quality monitoring is essential for a better understanding of the patterns occurring in this ecosystem. In this study, key sensor locations were determined using spatial and temporal analyses combined with geographical information systems (GIS) to assess the influence of weather features, anthropogenic activities, and other non-point pollution sources. A water quality monitoring network was established to obtain data on 14 physicochemical and microbiological parameters at each of seven sample sites over a period of 13 months. A spatial and temporal statistical approach using pattern recognition techniques, such as cluster analysis (CA) and discriminant analysis (DA), was employed to classify and identify the most important water quality parameters in the lake. The original monitoring network was reduced to four optimal sensor locations based on a fuzzy overlay of the interpolations of concentration variations of the most important parameters.     

Use of phytoproductivity data in the choice of native plant species to restore a degraded coal mining site amended with a stabilized industrial organic sludge

Coal mining-related activities result in a degraded landscape and sites associated with large amounts of dumped waste material. The arid soil resulting from acid mine drainage affects terrestrial and aquatic ecosystems, and thus, site remediation programs must be implemented to mitigate this sequential deleterious processes. A low-cost alternative material to counterbalance the affected physico-chemical-microbiological aspects of the degraded soil is the amendment with low contaminated and stabilized industrial organic sludge. The content of nutrients P and N, together with stabilized organic matter, makes this material an excellent fertilizer and soil conditioner, fostering biota colonization and succession in the degraded site. However, choice of native plant species to restore a degraded site must be guided by some minimal criteria, such as plant survival/adaptation and plant biomass productivity. Thus, in this 3-month study under environmental conditions, phytoproductivity tests with five native plant species (Surinam cherry Eugenia uniflora L., C. myrianthum–Citharexylum myrianthum, Inga–Inga spp., Brazilian peppertree Schinus terebinthifolius, and Sour cherry Prunus cerasus) were performed to assess these criteria, and additional biochemical parameters were measured in plant tissues (i.e., protein content and peroxidase activity) exposed to different soil/sludge mixture proportions. The results show that three native plants were more adequate to restore vegetation on degraded sites: Surinam cherry, C. myrianthum, and Brazilian peppertree. Thus, this study demonstrates that phytoproductivity tests associated with biochemical endpoint measurements can help in the choice of native plant species, as well as aiding in the choice of the most appropriate soil/stabilized sludge proportion in order to optimize biomass production.

     

Service quality evaluation in the context of a technology laboratory

The intent of this research is to investigate how the customers of a technological control laboratory for civil construction materials perceived the quality of the services delivered by the lab, specifically in regard to the service of concrete compression testing. The popular SERVQUAL scale, a multidimensional instrument used to capture customer expectations and perceptions, was used as a model for the application of a survey. Exploratory factor analyses were employed to evaluate customers’ perceptions and experiences of service quality in regard to the dimensions and accompanying attributes of the SERVQUAL scale. Twenty attributes, which were grouped within five dimensions (Reliability, Assurance, Tangibles, Responsiveness, and Empathy), were identified, explaining 80.417% of the variance between customer expectations and perceptions and characterizing these dimensions on a modified SERVQUAL scale. Analysis of the results allowed us to identify discrepancies in perceived service quality compared with customers’ expectations. Most of the identified gaps between expectations and perceptions resulted in negative values.     

An empirical study for the direct and indirect links between trust in regulatory institutions and acceptability of hazards

Several studies have identified a significant relationship between trust in regulatory institutions and the extent of a hazard’s acceptability. Many, however, have overlooked the potential impact perceived risk and perceived benefit may have on the relationship. Our principal goal is to assess empirically the link between social trust in regulatory entities and the degree of public acceptability of hazards in view of interactions among social trust, perceived risk, perceived benefit and public acceptability. A survey was conducted in 2006 in three cities representative of central Mexico. A total of 356 participants answered the survey. Each participant assessed 30 hazards for perceived risk, perceived benefit, acceptability, social trust in regulatory entities, and personal knowledge. Our main finding was that social trust retained a direct as well as an indirect causal link with the degree of a hazard’s public acceptability, independent of hazard, the extent of knowledge, and the magnitude of the hazard’s perceived risk and benefit. The relationship encountered between perceived risk and acceptability was unexpected, as numerous studies have demonstrated empirically the influence perceived risk on how acceptable an activity or technology is. In our results the statistical significance of the perceived risk-acceptability relationship practically disappeared when controlled for institutional trust and perceived benefit. In other words, the net linear relationship between perceived risk and acceptability is mediated by the extent of social trust and the benefit perceived. Comparisons with several prior studies are conducted, and implications for regulatory entities are discussed.     

Greenhouse gas production and efficiency of planted and artificially aerated constructed wetlands

Greenhouse gas (GHG) emissions by constructed wetlands (CWs) could mitigate the environmental benefits of nutrient removal in these man-made ecosystems. We studied the effect of 3 different macrophyte species and artificial aeration on the rates of nitrous oxide (N₂O), carbon dioxide (CO₂) and methane (CH₄) production in CW mesocosms over three seasons. CW emitted 2-10 times more GHG than natural wetlands. Overall, CH₄ was the most important GHG emitted in unplanted treatments. Oxygen availability through artificial aeration reduced CH₄ fluxes. Plant presence also decreased CH₄ fluxes but favoured CO₂ production. Nitrous oxide had a minor contribution to global warming potential (GWP < 15%). The introduction of oxygen through artificial aeration combined with plant presence, particularly Typha angustifolia, had the overall best performance among the treatments tested in this study, including lowest GWP, greatest nutrient removal, and best hydraulic properties.