Prenatal identification of i(YP) by molecular cytogenetic analysis

An i(Yp) is a rare marker chromosome. We present a case of de novo 46,X,i(Yp) detected prenatally in an amniotic fluid specimen. Fluorescence in situ hybridization (FISH) studies using a panel of Y-specific biotinylated DNA probes identified the marker chromosome as i(Yp). Comparative genomic hybridization (CGH) studies further confirmed the diagnosis. Upon pregnancy termination, external examination of the fetus revealed a generally well-developed male fetus with slight facial dysmorphism and prominent rocker-bottom feet. The molecular cytogenetic data in this case proved very useful in genetic counselling and served as a good example illustrating the important role of molecular techniques for accurate identification of marker chromosomes.     

Being trusted: How team generational age diversity promotes and undermines trust in cross‐boundary relationships

We examine how demographic context influences the trust that boundary spanners experience in their dyadic relationships with clients. Because of the salience of age as a demographic characteristic as well as the increasing prevalence of age diversity and intergenerational conflict in the workplace, we focus on team age diversity as a demographic social context that affects trust between boundary spanners and their clients. Using social categorization theory and theories of social capital, we develop and test our contextual argument that a boundary spanner's experience of being trusted is influenced by the social categorization processes that occur in dyadic interactions with a specific client and, simultaneously, by similar social categorization processes that influence the degree to which the client team as a whole serves as a cooperative resource for demographically similar versus dissimilar boundary spanner–client dyads. Using a sample of 168 senior boundary spanners from the consulting industry, we find that generational diversity among client team members from a client organization undermines the perception of being trusted within homogeneous boundary spanner–client dyads while it enhances the perception of being trusted within heterogeneous dyads. The perception of being trusted is an important aspect of cross‐boundary relationships because it influences coordination and the costs associated with coordination. © 2015 The Author Journal of Organizational Behavior Published by John Wiley & Sons Ltd     

Book reviews

ESSENTIALS OF CRYSTALLOGRAPHY by Duncan McKie and Christine McKie, Blackwell Scientific Publications, 1986, 437 pp, £25.00 bound, £12.95 paper.     

Community-based observing networks and systems in the Arctic: Human perceptions of environmental change and instrument-derived data

Regional Environmental Change - Many papers have addressed the differing approaches to observation by scientists collecting instrumented data and by community or local knowledge-based observations....     

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.     

A Microcomputer-based Forecasting Model: Potential Applications for Emergency Response Plans and Air Quality Studies

Most atmospheric transport and diffusion models within emergency response systems have very limited physics and are forced to rely on the assumption that wind and turbulence conditions at the time of the release will be representative over the period for which dispersion must be predicted. For releases where the principal concern is about the first few kilometers of travel, such an assumption is appropriate. However, for large accidental releases during stable conditions, the plume may travel for several hours before it is diluted to safe levels and the assumption of persistence may be inappropriate, particularly for transport in complex terrain. Under these circumstances, a model that can forecast changes in wind and turbulence conditions is required. We have installed such a model on microcomputers and tested it in complex terrain near Salt Lake City. One-hour tracer releases produced surface concentrations that remain high for much longer times than that expected based on one hour’ travel time with the mean wind at the source height. Furthermore, relatively large concentrations were found at distances of over 40 km from the source. The model was generally able to reproduce the principal features described by the measurements, although some effects of subgrid scale terrain were missed.     

Greenhouse gas emissions from Australian open-cut coal mines: contribution from spontaneous combustion and low-temperature oxidation

Spontaneous combustion and low-temperature oxidation of waste coal and other carbonaceous material at open-cut coal mines are potentially significant sources of greenhouse gas emissions. However, the magnitude of these emissions is largely unknown. In this study, emissions from spontaneous combustion and low-temperature oxidation were estimated for six Australian open-cut coal mines with annual coal production ranging from 1.7 to more than 16 Mt. Greenhouse emissions from all other sources at these mines were also estimated and compared to those from spontaneous combustion and low-temperature oxidation. In all cases, fugitive emission of methane was the largest source of greenhouse gas; however, in some mines, spontaneous combustion accounted for almost a third of all emissions. For one mine, it was estimated that emissions from spontaneous combustion were around 250,000 t CO₂-e per annum. The contribution from low-temperature oxidation was generally less than about 1% of the total for all six mines. Estimating areas of spoil affected by spontaneous combustion by ground-based surveys was prone to under-report the area. Airborne infrared imaging appears to be a more reliable method.     

Methyl Tertiary Butyl Ether (MTBE) and Other Volatile Organic Compounds (VOCs) in Public Water Systems,Private Wells,and Ambient Groundwater Wells in New Jersey Compared to Regulatory and Human-Health Benchmarks

Potential threats to drinking water and water quality continue to be a major concern in many regions of the United States. New Jersey, in particular, has been at the forefront of assessing and managing potential contamination of its drinking water supplies from hazardous substances. The purpose of the current analysis is to provide an up-to-date evaluation of the occurrence and detected concentrations of methyl tertiary butyl ether (MTBE) and several other volatile organic compounds (VOCs) in public water systems, private wells, and ambient groundwater wells in New Jersey based on the best available data, and to put these results into context with federal and state regulatory and human-health benchmarks. Analyses are based on the following three databases that contain water quality monitoring data for New Jersey: Safe Drinking Water Information System (SDWIS), Private Well Testing Act (PWTA), and National Water Information System (NWIS). For public water systems served by groundwater in New Jersey, MTBE was detected at a concentration ≥10 μg/L, ≥20 μg/L, and ≥70 μg/L at least once in 30 (2%), 21 (1.4%), and five (0.3%) of sampled systems from 1997 to 2011, respectively. For private wells in New Jersey, MTBE was detected at a concentration ≥10 μg/L, ≥20 μg/L, and ≥70 μg/L at least once in 385 (0.5%), 183 (0.2%), and 46 (0.05%) of sampled wells from 2001 to 2011, respectively. For ambient groundwater wells in New Jersey, MTBE was detected at a concentration ≥10 μg/L, ≥20 μg/L, and ≥70 μg/L at least once in 14 (2.1%), 9 (1.3%), and 4 (0.6%) of sampled wells from 1993 to 2012, respectively. Average detected concentrations of MTBE, as well as detected concentrations at upper-end percentiles, were less than corresponding benchmarks for all three datasets. The available data show that MTBE is rarely detected in various source waters in New Jersey at a concentration that exceeds the State's health-based drinking water standard or other published benchmarks, and there is no evidence of an increasing trend in the detection frequency of MTBE. Other VOCs, such as tetrachloroethylene (PCE), trichloroethylene (TCE), and benzene, are detected more often above corresponding regulatory or human-health benchmarks due to their higher detected concentrations in water and/or greater toxicity values. The current analysis provides useful data for evaluating the nature and extent of historical and current contamination of water supplies in New Jersey and potential opportunities for public exposures and health risks due to MTBE and other VOCs on a statewide basis. Additional forensic or forecasting analyses are required to identify the sources or timing of releases of individual contaminants at specific locations or to predict potential future water contamination in New Jersey.