Prenatal diagnosis,fetal pathology,and cytogenetic analysis of mosaic trisomy 14

While true mosaicism occurs in only 0–25 per cent of genetic amniocenteses, nearly 2–5 per cent of amniotic fluid cell cultures contain a second cell line. In the common practice of prenatal diagnosis, an aberrant cell line confined to a single colony is usually disregarded. We present a case of mosaic trisomy 14 which was not detected on initial chromosome analysis. At birth, multiple malformations were apparent. Newborn cytogenetic studies revealed mosaicism [46,XX/46,XX,-14,+i(14q)] with an isochromosome 14 in 37 per cent of lymphocytes. Additional cells from the initial amniotic fluid culture were analysed post-delivery and the isochromosome 14 identified in only one of 12 total colonies. This case illustrates two important lessons in prenatal diagnosis. First, amniotic fluid cell cultures may not accurately reflect the relative distribution of the normal and abnormal cell lines within a mosaic fetus. Second, while it is generally reasonable to disregard mosaicism confined to a single colony, this policy will, on rare occasion, result in diagnostic error. This should be taken into consideration, particularly when dealing with autosomal trisomies potentially compatible with livebirth.     

N-nitrosodimethylamine and trihalomethane formation and minimisation in Southeast Queensland drinking water

This study assesses the prevalence of disinfection by-product (DBP) precursors in some Southeast Queensland drinking water sources by conducting formation potential experiments for the four regulated trihalomethanes (THMs), and the potent carcinogen, N-nitrosodimethylamine (NDMA). NDMA formation potentials were consistently low (<5-21 ng/L), and total THM (tTHM) formation potentials were consistently below the Australian Drinking Water Guideline (250 μg/L). NDMA concentration of finished drinking waters was also monitored and found to be <5 ng/L in all cases. The effect of coagulation and advanced oxidation on the formation of NDMA and THMs is also reported. UV/H(2)O(2) pre-treatment was effective in producing water with very low THMs concentrations, and UV irradiation was an effective method for NDMA degradation. H(2)O(2) was not required for the observed NDMA degradation to occur. Coagulation using alum, ferric chloride or poly(diallyldimethylammonium chloride) (polyDADMAC) was ineffective in removing DBPs precursors from the source water studied, irrespective of the low dissolved organic carbon (DOC) and dissolved organic nitrogen (DON) attained. Rather, coagulation with polyDADMAC caused an increase in NDMA formation potential upon chloramination, and all coagulants led to an increased tTHM formation potential upon chlorination due to the high bromide concentration of the source water studied.     

Covariates affecting spatial variability in bison travel behavior in Yellowstone National Park.

Understanding mechanisms influencing the movement paths of animals is essential for comprehending behavior and accurately predicting use of travel corridors. In Yellowstone National Park (USA), the effects of roads and winter road grooming on bison (Bison bison) travel routes and spatial dynamics have been debated for more than a decade. However, no rigorous studies have been conducted on bison spatial movement patterns. We collected 121 380 locations from 14 female bison with GPS collars in central Yellowstone to examine how topography, habitat type, roads, and elevation affected the probability of bison travel year-round. We also conducted daily winter bison road use surveys (2003-2005) to quantify how topography and habitat type influenced spatial variability in the amount of bison road travel. Using model comparison techniques, we found the probability of bison travel and spatial distribution of travel locations were affected by multiple topographic and habitat type attributes including slope, landscape roughness, habitat type, elevation, and distances to streams, foraging areas, forested habitats, and roads. Streams were the most influential natural landscape feature affecting bison travel, and results suggest the bison travel network throughout central Yellowstone is spatially defined largely by the presence of streams that connect foraging areas. Also, the probability of bison travel was higher in regions of variable topography that constrain movements, such as in canyons. Pronounced travel corridors existed both in close association with roads and distant from any roads, and results indicate that roads may facilitate bison travel in certain areas. However, our findings suggest that many road segments used as travel corridors are overlaid upon natural travel pathways because road segments receiving high amounts of bison travel had similar landscape features as natural travel corridors. We suggest that most spatial patterns in bison road travel are a manifestation of general spatial travel trends. Our research offers novel insights into bison spatial dynamics and provides conceptual and analytical frameworks for examining movement patterns of other species.     

Effects of productivity on biodiversity in forest ecosystems across the United States and China

In the global campaign against biodiversity loss in forest ecosystems, land managers need to know the status of forest biodiversity, but practical guidelines for conserving biodiversity in forest management are lacking. A major obstacle is the incomplete understanding of the relationship between site primary productivity and plant diversity, due to insufficient ecosystem‐wide data, especially for taxonomically and structurally diverse forest ecosystems. We investigated the effects of site productivity (the site's inherent capacity to grow timber) on tree species richness across 19 types of forest ecosystems in North America and China through 3 ground‐sourced forest inventory data sets (U.S. Forest Inventory and Analysis, Cooperative Alaska Forest Inventory, and Chinese Forest Management Planning Inventory). All forest types conformed to a consistent and highly significant (P < 0.001) hump‐shaped unimodal relationship, of which the generalized coefficients of determination averaged 20.5% over all the forest types. That is, tree species richness first increased as productivity increased at a progressively slower rate, and, after reaching a maximum, richness started to decline. Our consistent findings suggest that forests of high productivity would sustain few species because they consist mostly of flat homogeneous areas lacking an environmental gradient along which a diversity of species with different habitats can coexist. The consistency of the productivity–biodiversity relationship among the 3 data sets we examined makes it possible to quantify the expected tree species richness that a forest stand is capable of sustaining, and a comparison between the actual species richness and the sustainable values can be useful in prioritizing conservation efforts.     

Spatial and temporal variations in groundwater nitrate at an intensive dairy farm in south-east Ireland: Insights from stable isotope data

Achievement of at least “good ecological status” in all waterbodies under the EU Water Framework Directive by 2015 will in some cases be a challenge. The twin challenge is to manage expectations of policy makers for such waterbodies as to a realistic length of time required for improvement in water quality. Hence, understanding the source, transformation processes and residence time of nitrate in a hydrological system is an essential part of meeting such challenges. On a dairy farm with 24 shallow groundwater wells, the dual isotopic composition of nitrate (δ¹⁵N and δ¹⁸O) was used to clarify nitrate sources, to assess spatial and temporal variability in nitrate concentrations and to determine if and where denitrification was occurring. Vertical travel time was estimated to correlate nitrate concentrations with management practices. Organically derived nitrogen was the predominant source contributing to groundwater nitrate concentrations. Denitrification was identified as prevalent within specific regions of the study site. The distinct low temporal variability in the isotopic data suggests constancy among nitrate sources and processes over time across the study site. Vertical travel times of up to 3 years were estimated on site indicating the influence of recent management practices on nitrate concentrations. Very slow horizontal migration of groundwater (decades) indicates a legacy of older management practices. Stable isotope techniques, together with an understanding of time lag, provide an extra mechanism to test the efficacy of monitoring and mitigation programmes.     

Chemical mass balance source apportionment for combined PM2.5 measurements from U.S. non-urban and urban long-term networks

The Minnesota Particulate Matter 2.5 (PM_2.5) Source Apportionment Study was undertaken to explore the utility of PM_2.5 mass, element, ion, and carbon measurements from long-term speciation networks for pollution source attribution. Ambient monitoring data at eight sites across the state were retrieved from the archives of the Interagency Monitoring of Protected Visual Environments (IMPROVE) and the Speciation Trends Network (STN; part of the Chemical Speciation Network [CSN]) and analyzed by an Effective Variance – Chemical Mass Balance (EV-CMB) receptor model with region-specific geological source profiles developed in this study. PM_2.5 was apportioned into contributions of fugitive soil dust, calcium-rich dust, taconite (low grade iron ore) dust, road salt, motor vehicle exhaust, biomass burning, coal-fired utility, and secondary aerosol. Secondary sulfate and nitrate contributed strongly (49–71% of PM_2.5) across all sites and was dominant (≥60%) at IMPROVE sites. Vehicle exhausts accounted for 20–70% of the primary PM_2.5 contribution, largely exceeding the proportion in the primary PM_2.5 emission inventory. The diesel exhaust contribution was separable from the gasoline engine exhaust contribution at the STN sites. Higher detection limits for several marker elements in the STN resulted in non-detectable coal-fired boiler contributions which were detected in the IMPROVE data. Despite the different measured variables, analytical methods, and detection limits, EV-CMB results from a nearby IMPROVE-STN non-urban/urban sites showed similar contributions from regional sources – including fugitive dust and secondary aerosol. Seasonal variations of source contributions were examined and extreme PM_2.5 episodes were explained by both local and regional pollution events.     

Author’s Reply

A technique is developed to compute precision requirements for component parts of an emissions inventory to ensure (at a given confidence level) an overall acceptable precision in the estimate of total emissions. Since the emissions inventory is a basic requirement of air quality control implementation plans and provides a valuable management tool for planning air pollution control activities, it isi appropriate to state in quantitative terms the confidence that can be associated with each inventory. The approach reported here uses weighted sensitivity analysis methods to distribute both percentage and physical errors in source class emissions according to their contribution to the total emissions, and utilizes Chebyshev’s inequality to establish confidence levels for total emissions. The analysis has been extended to cover the case where one or more of the error components in a given inventory source class can be fixed by the analyst. The utility of the technique is manifold and several practical applications are reported. In particular, it serves to establish percentage error requirements for source categories to satisfy given error bounds for the overall emissions inventory at a given level of statistical confidence. The weighted sensitivity analysis technique possesses a high degree of generality, being applicable to compute component error requirements for any kind of data inventory which exhibits a hierarchical (tree-like) structure, as exemplified by NEDS Emissions Summary Reports. This work should be of interest to air pollution control planners at all levels of government and to anyone responsible for the air pollution portion of environmental impact statements.     

Black Carbon Aerosol at McMurdo Station,Antarctica

ABSTRACT

Aerosol light absorption as black carbon (BC) was measured from November 19, 1995, to February 6, 1996, at a location 0.65 km downwind of the center of McMurdo Station on the Antarctic coast. The results show a bimo-dal frequency distribution of BC concentrations. Approximately 65% of the measurements were found in a mode at a low range of concentrations centered at ~20 ng/m³. These concentrations are higher than those found at other remote Antarctic locations and probably represent contamination from the station. The remaining measurements were in a high-concentration mode (BC ~300 ng/m³), indicating direct impact of local emissions from combustion activities at the station. High values of BC were associated with winds from the direction of the station, and the BC flux showed a clear directionality. Maximum BC concentrations occurred between 7:00 and 11:00 a.m. The "polluted" mode accounted for more than 80% of the BC frequency-weighted impact at this location.     

Spatial Differences in Outdoor PM10 Mass and Aerosol Composition in Mexico City

Abstract

Twenty-five MiniVol samplers were operated throughout the Mexico City metropolitan region from February 22 through March 22, 1997, to evaluate the variability of PM₁₀ concentrations and composition. The highest PM₁₀ concentrations were found in neighborhoods with unpaved or dirty roads, and elements related to crustal material were the main cause of differences from nearby (<200 m) monitors that were not adjacent to the roadbed. SO₄ ^2?concentrations were homogeneous across the city. SO₄ ^2?measured at the city boundaries was about two-thirds of the concentrations measured within the urbanized area, indicating that most SO₄ ^2? is of regional origin. Elemental carbon (EC) and organic carbon (OC) concentrations were highly variable, with higher concentrations in areas that had high diesel traffic and older vehicles. Spatial correlations among PM₁₀ concentrations were high, even though absolute concentrations were variable, indicating a common effect of meteorology on the concentration or dispersion of local emissions.