Detection of low-grade mosaicism in fetal cells isolated from maternal blood

Recovering and analysing fetal erythrocytes from maternal blood is being pursued for non-invasive prenatal genetic diagnosis. We report the observation of 46, XY/47, XXY mosaicism in fetal cells from a woman whose first-trimester chorionic villus sampling (CVS) initially showed only 46, XY. Only after exhaustive (500 cells) analysis were four XXY cells found in cultured villi.     

Vitamins,folic acid and neural tube defects: Comments on investigations in the United States

No clear answer concerning whether multivitamin/folate supplementation prevents neural tube defects (NTDs) is provided by three studies in the United States. All these studies are occurrence in nature, no recurrence studies having been conducted. The Atlanta Birth Defects Study is subject to pronounced memory and recall biases, the length between event and interview being as long as 16 years. In a second study (Boston University), objections can be raised to certain aspects of the experimental design, and the claim that 22 per cent of women started vitamins sufficiently early after pregnancy diagnosis to influence NTD formation is suspicious. Our NICHD case control study of 541 women in California and Illinois revealed no evidence for multivitamins or folic acid preventing NTDs. U.S. public policy-makers face difficulties in applying results of recurrence or occurrence studies in high-risk areas to low-risk areas in the U.S.     

Local Perceptions of Changes in Traditional Ecological Knowledge: A Case Study from Malekula Island,Vanuatu

Traditional ecological knowledge (TEK) is a critical global resource that may be eroding amid social and environmental change. Here, we present data on local perceptions of TEK change from three communities on Malekula Island in Vanuatu. Utilizing a structured interview (n = 120), we find a common perception of TEK loss. Participants defined two key periods of TEK erosion (roughly 1940–1960 and 1980–present), and noted that TEK decline was driven both external (e.g., church) and internal (e.g., shifting values) processes. Erosion was perceived to more comprehensive in the worldview domain than in aspects of ethnobiological knowledge and practice. These data indicate the perceived fragility of TEK systems and the complexity of TEK change. TEK systems are critical to natural resource management, and data such as these will assist in designing nuanced responses to the ongoing loss of cultural knowledge and practice.     

Who's in and why? A typology of stakeholder analysis methods for natural resource management

Stakeholder analysis means many things to different people. Various methods and approaches have been developed in different fields for different purposes, leading to confusion over the concept and practice of stakeholder analysis. This paper asks how and why stakeholder analysis should be conducted for participatory natural resource management research. This is achieved by reviewing the development of stakeholder analysis in business management, development and natural resource management. The normative and instrumental theoretical basis for stakeholder analysis is discussed, and a stakeholder analysis typology is proposed. This consists of methods for: i) identifying stakeholders; ii) differentiating between and categorising stakeholders; and iii) investigating relationships between stakeholders. The range of methods that can be used to carry out each type of analysis is reviewed. These methods and approaches are then illustrated through a series of case studies funded through the Rural Economy and Land Use (RELU) programme. These case studies show the wide range of participatory and non-participatory methods that can be used, and discuss some of the challenges and limitations of existing methods for stakeholder analysis. The case studies also propose new tools and combinations of methods that can more effectively identify and categorise stakeholders and help understand their inter-relationships.     

A study of the effect of physical and chemical stressors on biological integrity within the San Diego hydrologic region

Environmental agencies across the United States have searched for adequate methods to assess anthropogenic impacts on the environment. Biological assessments, which compare the taxonomic composition of an aquatic assemblage to relevant biocriteria, have surfaced as an effective method to assess the ecological integrity of US waterbodies. In this study, bioassessment data were collected and analyzed in conjunction with physical habitat and chemical stressor data for streams and rivers within the San Diego basin from 1998 through 2005. Physical stressors such as sediment loading, riparian destruction, and in-stream habitat homogenization affect many locations in the region. However, physical habitat measures alone were found to frequently overestimate the biological integrity of streams in the region. Many sites within the San Diego Basin, although unaffected by physical stressors, continue to exhibit low biological integrity scores. Sites with low biological integrity tend to possess higher specific conductance and salinity compared to sites with high biological integrity. We suggest that one possible reason for these differences is the source water used for municipal purposes.     

INACTIVATION OF GIARDIA MURIS CYSTS BY CHLORAMINES1

ABSTRACT: In a study to measure the efficacy of chioramines at inactivating Giardia cysts, the ability of cysts to excyst was measured after exposure to different concentrations of chloramines, for different times, and at different temperatures and pH. The chloramines were generated by mixing ammonium sulfate and sodium hypochlorate in water to approximate a 7:1 chlorine:ammonia ratio by weight. Times of 40, 80, 180, and 270 minutes; temperatures of 3, 10, and 18°C; target chioramine concentrations of 0.4, 1.4, 2.0, and 2.6 mg/L; and pH of 7.0 and 8.5 were the actual values tested. The combinations of these variables that were able to inactivate >99.8 percent of the cysts were a minimum chloramine concentration of 2.26 mg/L applied for 270 minutes at a water temperature of 10°C; and at 18°C, averaged minimum chloramine concentrations of 2.14 and 1.55 mg/L applied for 180 and 270 minutes, respectively. The minimum CT values corresponding to these combinations capable of >99.8 percent cyst inactivation, are 610 at 10°C and 385 at 18°C. Temperature was noted to exert a major effect on the ability of chloramines to inactivate cysts. Modifications of the methods used to generate chloramines may have an effect on the capacity of this disinfectant to inactivate cysts.     

SIMULATION AND DECISIONMAKING: THE PLATTE RIVER BASIN IN NEBRASKA1

Substantial conflict exists over water management and allocation in the Platte River Basin of Nebraska. An interdisciplinary computer simulation model, representing the water quantity, water quality, environmental, and economic dimensions of the conflict, was developed in order to analyze the tradeoffs among allocation scenarios. Most importantly, decisionmakers and interest groups were involved in model development. Simulation results for a base case and two scenarios are presented. One scenario favors protection of instream flow for wildlife; the other favors water diversions for agriculture. Impacts of the instream flow scenario, as measured by the amount of land irrigated, groundwater levels, the amount of wildlife habitat for cranes and catfish, and net agricultural benefits did not differ greatly from those of the base case. However, impacts of the diversion scenario were substantial. On the negative side, instream flows and wildlife habitat declined an average of 39 percent; while, on the positive side, groundwater levels and net agricultural benefits each increased 6 percent. The modeling process was successful insofar as it promoted an understanding among the highly diverse interest groups of the systems nature of the Basin. One agreement on a water diversion schedule among three of the parties has been reached, partly as a result of this process. More comprehensive compromises have not yet been forged. Our experience, however, indicates that modeling success at the policymaking level depends more on the extent to which the policymakers understand the model than it does on model sophistication.     

Total organic carbon analysis as a precursor to disinfection byproducts in potable water: oxidation technique considerations

In recent years, an increasing number of regulations and methodologies have begun to utilize total organic carbon (TOC) analysis for monitoring microbial contamination and/or disinfectant byproduct (DBP) precursors. This paper highlights some analytical differences and similarities between the two widely used TOC oxidation techniques: UV persulfate and high temperature combustion (HTC). Previous papers have come to different and sometimes contradictory conclusions on this subject. However, these studies either compared instruments with significantly different flow paths or TOC systems from different eras. Unlike previous studies, this paper compares two modern TOC analyzers with nearly identical flow paths for sample recovery, detection limits, and analysis of real world samples. On average, both persulfate and HTC oxidation yielded good recoveries for 10 hard to oxidize compounds and potable water samples from 5 different locations across the USA. In general, persulfate yielded more precise results because of its lower background response relative to sample response while HTC gave slightly higher results (roughly 2% to 3%) for surface water samples.     

Tundra disturbance and ecosystem production: Implications for impact assessment

Environmental regulations governing industrial activities in tundra environments stem largely from the expected ecological effects of the activities. One of the major ecological effects of industrial activities is the surface subsidence associated with thermokarst, which can result in changes in primary and secondary production. The primary production changes associated with thermokarst are strongly governed by three ecosystem properties—soil temperature, water regime, and nutrient availability. Most disturbances set in motion a more-or-less predictable sequence of landscape change related to these properties: soil warming, thermokarst, surface flooding, accelerated organic matter decomposition, and increased nutrient availability. The warmed soil and the enhanced nutrient availability typically lead to increased annual primary production, increased dominance by graminoids, and reduced plant species diversity. These vegetational changes may in turn potentially enhance secondary production, but in general these second-level responses have yet to be quantified. More information is needed about the food-chain effects of tundra landscape disturbances before regulators can make well-informed predictions of impacts or plan useful habitat rehabilitation.     

Non-invasive fetal genotyping for maternal alleles with droplet digital PCR: A comparative study of analytical approaches

Objectives

To develop a flexible droplet digital PCR (ddPCR) workflow to perform non-invasive prenatal diagnosis via relative mutation dosage (RMD) for maternal pathogenic variants with a range of inheritance patterns, and to compare the accuracy of multiple analytical approaches.

Methods

Cell free DNA (cfDNA) was tested from 124 archived maternal plasma samples: 88 cases for sickle cell disease and 36 for rare Mendelian conditions. Three analytical methods were compared: sequential probability ratio testing (SPRT), Bayesian and z-score analyses.

Results

The SPRT, Bayesian and z-score analyses performed similarly well with correct prediction rates of 96%, 97% and 98%, respectively. However, there were high rates of inconclusive results for each cohort, particularly for z-score analysis which was 31% overall. Two samples were incorrectly classified by all three analytical methods; a false negative result predicted for a fetus affected with sickle cell disease and a false positive result predicting the presence of an X-linked IDS variant in an unaffected fetus.

Conclusions

ddPCR can be applied to RMD for diverse conditions and inheritance patterns, but all methods carry a small risk of erroneous results. Further evaluation is required both to reduce the rate of inconclusive results and explore discordant results in more detail.