Prenatal diagnosis of cystinosis utilizing chorionic villus sampling

The prenatal diagnosis of cystinosis is currently based on the increased amount of free-cystine present in amniotic fluid cells. Amniocyte cultures must be grown for at least 2 weeks to obtain sufficient cells for such measurements. Thus, the diagnosis cannot be made until close to 20 weeks gestational age by this method. We report a case in which chorionic villi were used for direct cystine measurement resulting in the in utero diagnosis of cystinosis at 9 weeks gestational age. The diagnosis was confirmed by the study of cultured chorionic villus cells, and of the 10-week abortus.     

Estimating Maximum Concentrations for Open Path Monitoring Along a Fixed Beam Path

ABSTRACT

Researchers have applied open path optical sensing techniques to a variety of workplace and environmental monitoring problems. Usually these data are reported in terms of a path-average (or path-integrated) concentration. When assessing potential human exposures along a beam path, this path-average value is not always informative, since concentrations along the path can vary substantially from the beam average. The focus of this research is to arrive at a method for estimating the upper-bound in contaminant concentrations over a fixed open beam path. The approach taken here uses a statistical model to estimate an upper-bound concentration based on a combination of the path-average and a measure of the spatial variability computed from point samples along the beam path. Results of computer simulations and experimental testing in a controlled ventilation chamber indicate that the model produced conservative estimates for the maximum concentration along the beam path. This approach may have many applications for open path monitoring in workplaces or wherever maximum concentrations are a concern.     

Occurrence and distribution of organochlorine pesticides - lindane, p,p'-DDT, and heptachlor epoxide - in surface water of China

Persistent organochlorine pesticides pollutants (OCPs) have been reported to occur at relatively high concentrations in some Chinese waters. In order to map the distribution of organochlorine pesticides in the surface water throughout China, samples were collected from over 600 sites in seven major river basins and three main internal rivers drainage areas during 2003 and 2004. The surface water samples were analyzed for the representative organochlorine pesticides contaminants including lindane (gamma-HCH), p,p'-DDT and heptachlor epoxide. In general, the most frequently detected compound was lindane, being detected in 83.9% of samples (mean=31.3 ng/l; range <0.17-860 ng/l), and the highest concentration was present in the Yellow River basin. p,p'-DDT was detected in 63.1% of the samples collected (mean=14.6 ng/l; range <0.14-368 ng/l) with the highest concentration present in the Huaihe River basin. Heptachlor epoxide was detected in only 9.3% of water samples (range <0.11-10 ng/l). Measured concentrations for the three compounds were low and rarely exceed the environment quality standard for surface water of China. Lindane was more frequently detected at much higher concentrations in the rivers of northern China compared with those of southern China. The sites with higher concentration of lindane and p,p'-DDT mainly occurred in the Yellow River and Huaihe River basins, so the results of this investigation indicate that the organochlorine pesticide contamination of Yellow River and Huaihe River basins should be of particular concern relative to the other basins. When compared with other regions of the world, it appears that the Chinese surface water is moderately polluted by lindane and p,p'-DDT.     

Assessment of contamination and biomarker responses in two species of herons on the St. Lawrence river

This study was undertaken to validate potential biomarkers of exposure and effects due to chemical contaminants in breedingcolonies of the Great Blue Heron and the Black-crowned Night-Heron on the St. Lawrence River. Eggs and fledglings from both species were collected from many colonies along theRiver. The fledglings from colonies in freshwater and brackishwater were more contaminated by mercury and PCBs than those from estuarine and gulf colonies. With respect to fledglings ofthe two heron species, some morphometric and blood biochemicalmeasurements, including plasma thyroid hormones and retinol, were significantly different among colonies. Significant differences were also observed in liver retinoids, EROD and porphyrins among colonies. The results of this study suggestthat plasma retinoids and thyroid hormones are good biomarkersof exposure and effects, and are sufficiently sensitive to reflect local and regional variations in contamination. Along with the measure of contaminants in egg and plasma, they constitute non-invasive biomarkers which represent an importantcriteria for long term monitoring of wildlife species. It is concluded that the Great Blue Heron is an appropriate sentinelspecies in the surveillance network for the St. Lawrence River.     

Estimating maximum concentrations for open path monitoring along a fixed beam path

Researchers have applied open path optical sensing techniques to a variety of workplace and environmental monitoring problems. Usually these data are reported in terms of a path-average (or path-integrated) concentration. When assessing potential human exposures along a beam path, this path-average value is not always informative, since concentrations along the path can vary substantially from the beam average. The focus of this research is to arrive at a method for estimating the upper-bound in contaminant concentrations over a fixed open beam path. The approach taken here uses a statistical model to estimate an upper-bound concentration based on a combination of the path-average and a measure of the spatial variability computed from point samples along the beam path. Results of computer simulations and experimental testing in a controlled ventilation chamber indicate that the model produced conservative estimates for the maximum concentration along the beam path. This approach may have many applications for open path monitoring in workplaces or wherever maximum concentrations are a concern.     

Workplace and Environmental Air Contaminant Concentrations Measured by Open Path Fourier Transform Infrared Spectroscopy: A Statistical Process Control Technique to Detect Changes from Normal Operating Conditions

Open path Fourier transform infrared (OP-FTIR) spectroscopy is a new air monitoring technique that can be used to measure concentrations of air contaminants in real or near-real time. OP-FTIR spectroscopy has been used to monitor workplace gas and vapor exposures, emissions from hazardous waste sites, and to track emissions along fence lines. This paper discusses a statistical process control technique that can be used with air monitoring data collected with an OP-FTIR spectrometer to detect departures from normal operating conditions in the workplace or along a fence line. Time series data, produced by plotting consecutive air sample concentrations in time, were analyzed. Autocorrelation in the time series data was removed by fitting dynamic models. Control charts were used with the residuals of the model fit data to determine if departures from defined normal operating conditions could be rapidly detected. Shewhart and exponentially weighted moving average (EWMA) control charts were evaluated for use with data collected under different room air flow and mixing conditions.

Under rapidly changing conditions the Shewhart control chart was able to detect a leak in a simulated process area. The EWMA control chart was found to be more sensitive to drifts and slowly changing concentrations in air monitoring data. The time series and statistical process control techniques were also applied to data obtained during a field study at a chemical plant. A production area of an acrylonitrile, 1,3-butadiene, and styrene (ABS) polymer process was monitored in near-real time. Decision logics based on the time series and statistical process control technique introduced suggest several applications in workplace and environmental monitoring. These applications might include signaling of an alarm or warning, increasing levels of worker respiratory protection, or evacuation of a community, when gas and vapor concentrations are determined to be out-of-control.     

Genetic structure among coastal tailed frog populations at Mount St. Helens is moderated by post-disturbance management

Catastrophic disturbances often provide "natural laboratories" that allow for greater understanding of ecological processes and response of natural populations. The 1980 eruption of the Mount St. Helens volcano in Washington, USA, provided a unique opportunity to test biotic effects of a large-scale stochastic disturbance, as well as the influence of post-disturbance management. Despite severe alteration of nearly 600 km2 of habitat, coastal tailed frogs (Ascaphus truei) were found within a portion of the blast area five years after eruption. We investigated the genetic source of recolonization within the blast area and tested whether post-eruption salvage logging and subsequent tree planting influenced tailed frog movement patterns. Our results support widespread recolonization across the blast area from multiple sources, as all sites are grouped into one genetic cluster. Landscape genetic models suggest that gene flow through the unmanaged portion of the blast area is influenced only by distance between sites and the frost-free period (r2 = 0.74). In contrast, gene flow pathways within the blast area where salvage logging and replanting occurred post-eruption are strongly limited (r2 = 0.83) by the physiologically important variables of heat load and precipitation. These data suggest that the lack of understory and coarse wood (downed and standing dead tree boles) refugia in salvaged areas may leave frogs more susceptible to desiccation and mortality than those frogs moving through the naturally regenerated area. Simulated populations based on the landscape genetic models show an increase in the inbreeding coefficient in the managed area relative to the unmanaged blast area. In sum, we show surprising resilience of an amphibian species to a catastrophic disturbance, and we suggest that, at least for this species, naturally regenerating habitat may better maintain long-term genetic diversity of populations than actively managed habitat.     

Uncertainty in invasive alien species listing

Lists of invasive alien species (IAS) are essential for preventing, controlling, and reporting on the state of biological invasions. However, these lists suffer from a range of errors, with serious consequences for their use in science, policy, and management. Here we (1) collated and classified errors in IAS listing using a taxonomy of uncertainty; and (2) estimated the size of these errors using data from a completed listing exercise, with the purpose of better understanding, communicating, and dealing with them. Ten errors were identified. Most result from a lack of knowledge or measurement error (epistemic uncertainty), although two were a result of context dependence and vagueness (linguistic uncertainty). Estimates of the size of the effects of these errors were substantial in a number of cases and unknown in others. Most errors, and those with the largest estimated effect, result in underestimates of IAS numbers. However, there are a number of errors where the size and direction of the effect remains poorly understood. The effect of differences in opinion between specialists is potentially large, particularly for data-poor taxa and regions, and does not have a clearly directional or consistent effect on the size and composition of IAS lists. Five tactics emerged as important for reducing uncertainty in IAS lists, and while uncertainty will never be removed entirely, these approaches will significantly improve the transparency, repeatability, and comparability of IAS lists. Understanding the errors and uncertainties that occur during the process of listing invasive species, as well as the potential size and nature of their effects on IAS lists, is key to improving the value of these lists for governments, management agencies, and conservationists. Such understanding is increasingly important given positive trends in biological invasion and the associated risks to biodiversity and biosecurity.