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.     

Practitioner Insights into Weed Management on California’s Rangelands and Natural Areas

Working rangelands and natural areas span diverse ecosystems and face both ecological and economic threats from weed invasion. Restoration practitioners and land managers hold a voluminous cache of place-based weed management experience and knowledge that has largely been untapped by the research community. We surveyed 260 California rangeland managers and restoration practitioners to investigate invasive and weedy species of concern, land management goals, perceived effectiveness of existing practices (i.e., prescribed fire, grazing, herbicide use, and seeding), and barriers to practice implementation. Respondents identified 196 problematic plants, with yellow starthistle (Centaurea solstitialis L.) and medusahead (Elymus caput-medusae L.) most commonly listed. Reported adoption and effectiveness of weed management practices varied regionally, but the most highly rated practice in general was herbicide use; however, respondents identified considerable challenges including nontarget effects, cost, and public perception. Livestock forage production was the most commonly reported management goals (64% of respondents), and 25% of respondents were interested in additional information on using grazing to manage invasive and weedy species; however, 19% of respondents who had used grazing for weed management did not perceive it to be an effective tool. Across management practices, we also found common barriers to implementation, including operational barriers (e.g., permitting, water availability), potential adverse impacts, actual effectiveness, and public perception. Land manager and practitioner identified commonalities of primary weeds, management goals, perceived practice effectiveness, and implementation barriers across diverse bioregions highlight major needs that could be immediately addressed through management–science partnerships across the state’s expansive rangelands and natural areas.     

Estimating sampling frequency in pollen exposure assessment over time

A time series model was fitted to the pollen concentration data collected in the Greater Cincinnati area for the Cincinnati Childhood Allergy and Air Pollution Study (CCAAPS). A traditional time series analysis and temporal variogram approach were applied to the regularly spaced databases (collected in 2003) and irregularly spaced ones (collected in 2002), respectively. The aim was to evaluate the effect of the sampling frequency on the sampling precision in terms of inverse of standard error of the overall level of mean value across time. The presence of high autocorrelation in the data was confirmed and indicated some degree of temporal redundancy in the pollen concentration data. Therefore, it was suggested that sampling frequency could be reduced from once a day to once every several days without a major loss of sampling precision of the overall mean over time. Considering the trade-offs between sampling frequency and the possibility of sampling bias increasing with larger sampling interval, we recommend that the sampling interval should take values from 3 to 5 days for the pollen monitoring program, if the goal is to track the long-term average.     

A review of workplace aerosol sampling procedures and their relevance to the assessment of beryllium exposures

Standardized conventions governing the fractions of airborne particles that can penetrate the human head airways, the thoracic airways and the alveolar spaces have been internationally (although not universally) adopted. Several agencies involved in setting limit values for occupational exposure concentrations have taken these conventions into account when considering the appropriate standard for specific chemicals, in order to ensure the standards are biologically relevant. A convention is selected based on the characteristic health effects, and forms the basis of measurement against the limiting concentration value. In order to assess exposure for comparison to this metric or any other purposes, it is necessary to choose a sampler whose performance matches the convention, and protocols have been developed and used to test sampler performance. Several aerosol sampling devices are available, nominally at least, for each of the conventions. Some considerations important to the sampling of airborne particles containing beryllium with regard to the sampling conventions, the test protocols and sampler performance are discussed.     

Biomonitoring in the Boulder River Watershed, Montana, USA: Metal Concentrations in Biofilm and Macroinvertebrates, and Relations with Macroinvertebrate Assemblage

Portions of the Boulder River watershed contain elevated concentrations of arsenic, cadmium, copper, lead, and zinc in water, sediment, and biota. We measured concentrations of As, Cd, Cu, Pb, and Zn in biofilm and macroinvertebrates, and assessed macroinvertebrate assemblage and aquatic habitat with the objective of monitoring planned remediation efforts. Concentrations of metals were generally higher in downstream sites compared with upstream or reference sites, and two sites contained metal concentrations in macroinvertebrates greater than values reported to reduce health and survival of resident trout. Macroinvertebrate assemblage was correlated with metal concentrations in biofilm and macroinvertebrates. However, macroinvertebrate metrics were significantly correlated with a greater number of biofilm metals (8) than metals in invertebrates (4). Lead concentrations in biofilm appeared to have the most significant impact on macroinvertebrate assemblage. Metal concentrations in macroinvertebrates were directly proportional to concentrations in biofilm, indicating biofilm as a potential surrogate for monitoring metal impacts in aquatic systems.     

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.     

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.