Preimplantation genetic diagnosis of the fragile X syndrome by use of linked polymorphic markers

Fragile X syndrome is the most common cause of familial mental retardation. The most common mutation is expansion of a triplet (CGG)_n repeat in the 5′ untranslated region of the FMR1 gene on Xq27.3. The expansion is refractory to PCR due to preferential amplification of the smaller allele in heterozygous cells and the high GC content of the repeat and surrounding sequences. Direct detection of the normal parental alleles in preimplantation embryos has been used for preimplantation genetic diagnosis (PGD) of this disorder. However, this approach is only suitable for approximately 63% of couples due to the heterozygosity of the repeat in the normal population. As an alternative we investigated the use of polymorphic markers flanking the mutation to track the normal and premutation carrying maternal chromosomes in preimplantation embryos. Using a panel of 11 polymorphisms, six (CA)_n repeats and five single nucleotide polymorphisms, diagnosis was developed for 90% of referred couples. Multiplex amplification of informative markers was tested in 300 single buccal cells from interested couples with efficiency and allele drop out (ADO) rates ranging from 69% to 96% and 6% to 18%, respectively. Use of this approach is accurate and applicable to a larger number of patients at risk of transmitting fragile X to their offspring. Copyright © 2001 John Wiley & Sons, Ltd.     

A comparison of X-ray fluorescence and wet chemical analysis of air filter samples from a scrap lead smelting operation

Personal and area air samples were taken at a scrap lead smelter operation in a bullet manufacturing facility. Samples were taken using the 37-mm styrene-acrylonitrile closed-face filter cassette (CFC, the current US standard device for lead sampling), the 37-mm GSP or "cone" sampler, the 25-mm Institute of Occupational Medicine (IOM) inhalable sampler, and the 25-mm Button sampler (developed at the University of Cincinnati). Polyvinylchloride filters were used for sampling. The filters were pre- and post-weighed, and analyzed for lead content using a field-portable X-ray fluorescence (XRF) analyzer. The filters were then extracted with dilute nitric acid in an ultrasonic extraction bath and the solutions were analyzed by inductively coupled plasma optical emission spectroscopy. The 25-mm filters were analyzed using a single XRF reading, while three readings on different parts of the filter were taken from the 37-mm filters. The single reading from the 25-mm filters was adjusted for the nominal area of the filter to obtain the mass loading, while the three readings from the 37-mm filters were inserted into two different algorithms for calculating the mass loadings, and the algorithms were compared. The IOM sampler was designed for material collected in the body of the sampler to be part of the collected sample as well as that on the filter. Therefore, the IOM sampler cassettes were rinsed separately to determine if wall-loss corrections were necessary. All four samplers gave very good correlations between the two analytical methods above the limit of detection of the XRF procedure. The limit of detection for the 25-mm filters (5 microg) was lower than for the 37-mm filters (10 microg). The percentage of XRF results that were within 25% of the corresponding ICP results was evaluated. In addition, the bias from linear regression was estimated. Linear regression for the Button sampler and the IOM sampler using single readings and the GSP using all tested techniques for total filter loading gave acceptable XRF readings at loadings equivalent to sampling at the OSHA 8-hour Action Level and Permissible Exposure Limit. However, the CFC only had acceptable results when the center reading corrected for filter area was used, which was surprising, and may be a result of a limited data set. In addition to linear regression, simple estimation of bias indicated reasonable agreements between XRF and ICP results for single XRF readings on the Button sampler filters, (82% of the individual results within criterion), and on the IOM sampler filters (77% or 61%--see text), and on the GSP sampler filters using the OSHA algorithm (78%). As a result of this pilot project, all three samplers were considered suitable for inclusion in further field research studies.     

Food justice youth development: using Photovoice to study urban school food systems*

How do youth learn through participation in efforts to study and change the school food system? Through our participatory youth action research (YPAR) project, we move beyond the “youth as consumer” frame to a food justice youth development (FJYD) approach. We track how a group of youth learned about food and the public policy process through their efforts to transform their own school food systems by conducting a participatory evaluation of farm-to-school efforts in collaboration with university and community partners. We used the Photovoice research method, placing cameras in the hands of young people so that they themselves could document and discuss their concerns and perspectives. The research was designed to gain insight about youths’ knowledge of food, health, and community food systems. Drawing upon the youth group’s insights, we build a framework for building critical consciousness through FJYD.     

Lethal and sublethal effects of the pyrethroid, bifenthrin, on grass shrimp (Palaemonetes pugio) and sheepshead minnow (Cyprinodon variegatus)

This study investigated the lethal and sublethal effects of the pyrethroid insecticide bifenthrin on adult and larval grass shrimp, Palaemonetes pugio, and adult sheepshead minnows, Cyprinodon variegatus. The effects were determined by conducting 96-h aqueous static renewal tests and 24-h static tests with sediment. Oxidative stress biomarkers, lipid peroxidation, glutathione, and catalase were also assessed. The 96-h aqueous LC50 value for adult shrimp was 0.020 microg/L (95% CI: 0.015-0.025 microg/L) and for larval shrimp was 0.013 microg/L (95% CI: 0.011-0.016 microg/L). The 96-h aqueous LC50 for adult sheepshead minnow was 19.806 microg/L (95% CI: 11.886-47.250 microg/L). The 24-h sediment LC50 for adult shrimp was 0.339 microg/L (95% CI: 0.291-0.381 microg/L) and for larval shrimp was 0.210 microg/L (95% CI: 0.096-0.393 microg/L). The oxidative stress assays showed some increasing trends toward physiological stress with increased bifenthrin concentrations but they were largely inconclusive. Given the sensitivity of grass shrimp to this compound in laboratory bioassays, additional work will be needed to determine if these exposure levels are environmentally relevant.     

A comparison of acute toxicity of biodiesel, biodiesel blends, and diesel on aquatic organisms

The increased demand of alternative energy sources has created interest in biodiesel and biodiesel blends; biodiesel is promoted as a diesel substitute that is safer, produces less harmful combustion emissions, and biodegrades more easily. Like diesel spills, biodiesel can have deleterious effects on the aquatic environments. The effect of neat biodiesel, biodiesel blends, and diesel on Oncorhynchus mykiss and Daphnia magna was evaluated using acute toxicity testing. Static nonrenewal bioassays of freshwater organisms containing B100, B50, B20, B5, and conventional diesel fuel were used to compare the acute effects of biodiesel to diesel. Mortality was the significant end point measured in this study; percent mortality and lethal concentration (LC50) at different exposure times were determined from the acute toxicity tests performed. Trials were considered valid if the controls exhibited > 90% survival. Based on percentage of mortality and LC50 values, a toxicity ranking of fuels was developed.     

Urban sustainability – a segmentation study of Greater Brisbane,Australia

Setting universal goals for sustainability is problematic and may hinder the adoption of sustainable pathways as different sectors of society often have differing opinions on not just what sustainability means for them, but also what is of priority to them. This paper tests a set of psychographic, behavioural, lifestyle and social identities to segment the public on sustainability. We evaluate general knowledge, apply social-choice tools to identify public priorities, and then apply segmentation to reveal broad strata of community profiles around these choices. We discuss our findings in the context of moving beyond knowledge on sustainability and general public choices, to more nuanced messaging and engagement that respects differences in sustainability orientations. We suggest that by focusing on what matters most for different segments of society, there is potential to design effective processes to engage with people and acquire better ownership of sustainability.     

Gender-specific responses to climate variability in a semi-arid ecosystem in northern Benin

Highly erratic rainfall patterns in northern Benin complicate the ability of rural farmers to engage in subsistence agriculture. This research explores gender-specific responses to climate variability in the context of agrarian Benin through a household survey (n = 260) and an experimental gaming exercise among a subset of the survey respondents. Although men and women from the sample population are equally aware of climate variability and share similar coping strategies, their specific land-use strategies, preferences, and motivations are distinct. Over the long term, these differences would likely lead to dissimilar coping strategies and vulnerability to the effects of climate change. Examination of gender-specific land-use responses to climate change and anticipatory learning can enhance efforts to improve adaptability and resilience among rural subsistence farmers.     

Patterns of catch and trophic signatures illustrate diverse management requirements of coastal fisheries in Solomon Islands

Coastal fisheries are a critical component of Pacific island food systems; they power village economies and provide nutritious aquatic foods. Many coastal women and men actively fishing in this region rely on multi-species fisheries, which given their extraordinary diversity are notoriously difficult to both characterize, and to manage. Understanding patterns of fishing, diversity of target species and drivers of these patterns can help define requirements for sustainable management and enhanced livelihoods. Here we use a 12-month data set of 8535 fishing trips undertaken by fishers across Malaita province, Solomon Islands, to create fisheries signatures for 13 communities based on the combination of two metrics; catch per unit effort (CPUE) and catch trophic levels. These signatures are in turn used as a framework for guiding suitable management recommendations in the context of community-based resource management. While a key proximate driver of these patterns was fishing gear (e.g. angling, nets or spearguns), market surveys and qualitative environmental information suggest that community fishing characteristics are coupled to local environmental features more than the market value of specific species they target. Our results demonstrate that even within a single island not all small-scale fisheries are equal, and effective management solutions ultimately depend on catering to the specific environmental characteristics around individual communities.Supplementary InformationThe online version contains supplementary material available at 10.1007/s13280-021-01690-z.     

Applying Integrated Urban Water Management Concepts: A Review of Australian Experience

This article explores recent Australian experiences in the application of the concept of integrated urban water management (IUWM) to land development sites through the review of 15 case studies. It discusses lUWM’s emergence and comments on the success or otherwise of Australian experience in its application. The understanding of IUWM is maturing within the Australian water industry, an occurrence that has been facilitated by demonstration sites such as those reviewed. Successes include the translation of IUWM concepts into well-functioning operational urban developments, significant reductions in the impact of the urban developments on the total water cycle, and the increasing acceptance of the concept within the water and land development industries. However, there is still room for greater integration of the water supply, stormwater, and wastewater components of the urban water cycle, improved dissemination of knowledge, enhancement of skills in both public and private organisations, and monitoring the performance of systems and technologies.