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.     

PM2.5, NO2, wildfires,and other environmental exposures are linked to higher Covid 19 incidence,severity, and death rates

Environmental Science and Pollution Research - Numerous studies have linked outdoor levels of PM2.5, PM10, NO2, O3, SO2, and other air pollutants to significantly higher rates of Covid 19 morbidity...     

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.     

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.     

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.     

Water quality and health in northern Canada: stored drinking water and acute gastrointestinal illness in Labrador Inuit

One of the highest self-reported incidence rates of acute gastrointestinal illness (AGI) in the global peer-reviewed literature occurs in Inuit communities in the Canadian Arctic. This high incidence of illness could be due, in part, to the consumption of contaminated water, as many northern communities face challenges related to the quality of municipal drinking water. Furthermore, many Inuit store drinking water in containers in the home, which could increase the risk of contamination between source and point-of-use (i.e., water recontamination during storage). To examine this risk, this research characterized drinking water collection and storage practices, identified potential risk factors for water contamination between source and point-of-use, and examined possible associations between drinking water contamination and self-reported AGI in the Inuit community of Rigolet, Canada. The study included a cross-sectional census survey that captured data on types of drinking water used, household practices related to drinking water (e.g., how it was collected and stored), physical characteristics of water storage containers, and self-reported AGI. Additionally, water samples were collected from all identified drinking water containers in homes and analyzed for presence of Escherichia coli and total coliforms. Despite municipally treated tap water being available in all homes, 77.6% of households had alternative sources of drinking water stored in containers, and of these containers, 25.2% tested positive for total coliforms. The use of transfer devices and water dippers (i.e., smaller bowls or measuring cups) for the collection and retrieval of water from containers were both significantly associated with increased odds of total coliform presence in stored water (OR_{transfer device} = 3.4, 95% CI 1.2–11.7; OR_dipper = 13.4, 95% CI 3.8–47.1). Twenty-eight-day period prevalence of self-reported AGI during the month before the survey was 17.2% (95% CI 13.0–22.5), which yielded an annual incidence rate of 2.4 cases per person per year (95% CI 1.8–3.1); no water-related risk factors were significantly associated with AGI. Considering the high prevalence of, and risk factors associated with, indicator bacteria in drinking water stored in containers, potential exposure to waterborne pathogens may be minimized through interventions at the household level.     

Effects of biochar and greenwaste compost amendments on mobility, bioavailability and toxicity of inorganic and organic contaminants in a multi-element polluted soil

Applying amendments to multi-element contaminated soils can have contradictory effects on the mobility, bioavailability and toxicity of specific elements, depending on the amendment. Trace elements and PAHs were monitored in a contaminated soil amended with biochar and greenwaste compost over 60 days field exposure, after which phytotoxicity was assessed by a simple bio-indicator test. Copper and As concentrations in soil pore water increased more than 30 fold after adding both amendments, associated with significant increases in dissolved organic carbon and pH, whereas Zn and Cd significantly decreased. Biochar was most effective, resulting in a 10 fold decrease of Cd in pore water and a resultant reduction in phytotoxicity. Concentrations of PAHs were also reduced by biochar, with greater than 50% decreases of the heavier, more toxicologically relevant PAHs. The results highlight the potential of biochar for contaminated land remediation.