Prenatal diagnosis of bilateral anophthalmia: Identifying de novo SOX2 variant

A 26 year old nulligravida presented at 24 weeks gestation for the second opinion of abnormal fetal profile and mid-face views on ultrasound at another institution. A detailed fetal anatomic ultrasound at our facility revealed the absence of fetal lens and globes bilaterally consistent with bilateral anophthalmia (HP: 0000528) without other anomalies. Karyotype and chromosomal microarray analysis were completed from amniocentesis sample. After these results, duo exome testing with paternal sequencing was completed from proband amniotic fluid sample and parental blood samples. A pathogenic variant in SOX2 (NM_003106.3: c.513C>G p.(Tyr171*Ter)) with heterozygous autosomal dominant inheritance resulted. On duo exome testing with paternal segregation analysis, the variant was found to be consistent with likely sporadic de novo inheritance. The SOX2 variant reported is consistent with the fetal phenotype in this case. While germline mosaicism could exist, this identified variant provided the family with a likely explanation for this proband's finding. This ultrasound and genetic testing allowed the family to make decisions related to planning in current and future pregnancies.     

Survival and Inactivation by Advanced Oxidative Process of Foodborne Viruses in Model Low-Moisture Foods

Enteric viruses, such as human norovirus (NoV) and hepatitis A virus (HAV), are the major causes of foodborne illnesses worldwide. These viruses have low infectious dose, and may remain infectious for weeks in the environment and food. Limited information is available regarding viral survival and transmission in low-moisture foods (LMF). LMFs are generally considered as ready-to-eat products, which undergo no or minimal pathogen reduction steps. However, numerous foodborne viral outbreaks associated with LMFs have been reported in recent years. The objective of this study was to examine the survival of foodborne viruses in LMFs during 4-week storage at ambient temperature and to evaluate the efficacy of advanced oxidative process (AOP) treatment in the inactivation of these viruses. For this purpose, select LMFs such as pistachios, chocolate, and cereal were inoculated with HAV and the norovirus surrogates, murine norovirus (MNV) and feline calicivirus (FCV), then viral survival on these food matrices was measured over a four-week incubation at ambient temperature, by both plaque assay and droplet-digital RT-PCR (ddRT-PCR) using the modified ISO-15216 method as well as the magnetic bead assay for viral recovery. We observed an approximately 0.5 log reduction in viral genome copies, and 1 log reduction in viral infectivity for all three tested viruses following storage of select inoculated LMFs for 4 weeks. Therefore, the present study shows that the examined foodborne viruses can persist for a long time in LMFs. Next, we examined the inactivation efficacy of AOP treatment, which combines UV-C, ozone, and hydrogen peroxide vapor, and observed that while approximately 100% (4 log) inactivation can be achieved for FCV, and MNV in chocolate, the inactivation efficiency diminishes to approximately 90% (1 log) in pistachios and 70% (< 1 log) in cereal. AOP treatment could therefore be a good candidate for risk reduction of foodborne viruses from certain LMFs depending on the food matrix and surface of treatment.

     

Behavior of potentially toxic elements from stoker-boiler fly ash in Interior Alaska: paired batch leaching and solid-phase characterization

Environmental Science and Pollution Research - Despite significant investigation of fly ash spills and mineralogical controls on the release of potentially toxic elements (PTEs) from fly ash,...     

Are rivers just big streams? A pulse method to quantify nitrogen demand in a large river

Given recent focus on large rivers as conduits for excess nutrients to coastal zones, their role in processing and retaining nutrients has been overlooked and understudied. Empirical measurements of nutrient uptake in large rivers are lacking, despite a substantial body of knowledge on nutrient transport and removal in smaller streams. Researchers interested in nutrient transport by rivers (discharge >10000 L/s) are left to extrapolate riverine nutrient demand using a modeling framework or a mass balance approach. To begin to fill this knowledge gap, we present data using a pulse method to measure inorganic nitrogen. (N) transport and removal in the Upper Snake River, Wyoming, USA (seventh order, discharge 12000 L/s). We found that the Upper Snake had surprisingly high biotic demand relative to smaller streams in the same river network for both ammonium (NH4+) and nitrate (NO3-). Placed in the context of a meta-analysis of previously published nutrient uptake studies, these data suggest that large rivers may have similar biotic demand for N as smaller tributaries. We also found that demand for different forms of inorganic N (NH4+ vs. NO3-) scaled differently with stream size. Data from rivers like the Upper Snake and larger are essential for effective water quality management at the scale of river networks. Empirical measurements of solute dynamics in large rivers are needed to understand the role of whole river networks (as opposed to stream reaches) in patterns of nutrient export at regional and continental scales.     

The effects of young brood on the foraging behavior of two strains of honey bees (<Emphasis Type="Italic">Apis mellifera</Emphasis>)

Honey bee foragers specialize on collecting pollen and nectar. Pollen foraging behavior is modulated by at least two stimuli within the nest: the presence of brood pheromone and young larvae and the quantity of stored pollen. Genetic variation in pollen foraging behavior has been demonstrated repeatedly. We used selected high and low pollen-hoarding strains of bees that differ dramatically in the quantity of pollen collected to determine if the observed differences in foraging could be explained by differential responses to brood stimuli. Workers from the high and low pollen-hoarding strains and wild-type bees were co-fostered in colonies with either brood or no brood. As expected based on previous studies, returning high pollen-hoarding foragers collected heavier pollen loads and lighter nectar loads than low pollen-hoarding bees. Effects of brood treatment were also observed; bees exposed to brood collected heavier pollen loads and initiated foraging earlier than those from broodless colonies. More specifically, brood treatment resulted in increased pollen foraging in high pollen-hoarding bees but did not affect pollen foraging in low pollen-hoarding bees, suggesting that high pollen-hoarding bees are more sensitive to the presence of brood. However, response to brood stimuli does not sufficiently explain the differences in foraging behavior between the strains since these differences persisted even in the absence of brood.     

High natural fusion rates in a botryllid ascidian

Many benthic colonial invertebrates have the ability to fuse and form chimeras with compatible colonies. Botryllid ascidians are model organisms for the study of the evolution of and molecular basis for allorecognition, and fusion rates have been determined for different populations and species by random sampling and fusion testing between individuals. However, natural fusion rates over time have not been documented. Nine settlement panels were deployed in Salem Harbor, Massachusetts, USA and Botrylloides violaceus settlement, growth, and fusion monitored from July to mid-August 2007. Seventy-three percent of the recruits observed fused with at least one other colony, while 4% neither fused nor were overgrown. Multifused colonies were not observed to grow faster than single colonies when growth was calculated as increase in size beyond the summation of fused entities; however, they were significantly larger. These results suggest that larvae settle in clumps of compatible individuals, and that large subtidal colonies may be the result of high numbers of fusions between compatible colonies.     

Effects of timber harvesting on pond-breeding amphibian persistence: testing the evacuation hypothesis.

Numerous studies have documented the decline of amphibians following timber harvest. However, direct evidence concerning the mechanisms of population decline is lacking and hinders attempts to develop conservation or recovery plans and solutions for forest species. We summarized the mechanisms by which abundance of amphibians may initially decline following timber harvest into three testable hypotheses: (1) mortality, (2) retreat, and (3) evacuation. Here, we tested the evacuation hypothesis within a large-scale, replicated experiment. We used drift fences with pitfall traps to capture pond-breeding amphibians moving out of experimental clearcut quadrants and into control quadrants at four replicate arrays located within the Daniel Boone Conservation Area on the upper Ozark Plateau in Warren County, Missouri, USA. During the preharvest year of 2004, only 51.6% of the 312 individuals captured were moving out of pre-clearcut quadrants, and movement did not differ from random. In contrast, during both postharvest years of 2005 and 2006, the number of captures along the quadrant edge increased, and a higher proportion of individuals (59.9% and 56.6%, respectively, by year) were moving out of clearcut quadrants than entering. Salamanders moved out of clearcuts in large percentages (Ambystoma annulatum, 78.2% in 2005, 78.2% in 2006; A. maculatum, 64.0% in 2005, 57.1% in 2006). Frogs and toads also moved out of clearcut quadrants, but in lower percentages (Bufo americanus, 59.6% in 2005, 53.3% in 2006; Rana clamitans, 52.7% in 2006). Salamanders moved out of clearcuts with low-wood treatments more than out of clearcuts with high-wood treatments. Movement of salamanders out of clearcuts was independent of sex. Estimated movement out of clearcuts represented between 8.7% and 35.0% of the total breeding adults captured for two species of salamanders. Although we recognize that some portion of the amphibian population may retreat underground for short periods and others may not survive the effects of timber harvest, these data are the first direct evidence showing that individuals are capable of leaving clearcuts and shifting habitat use.     

Crowding and Experience-Use History: A Study of the Moderating Effect of Place Attachment Among Water-Based Recreationists

Effective recreation resource management relies on understanding visitor perceptions and behaviors. Given current and increasing pressures on water resources, understanding crowding evaluations seems important. Beyond crowding, however, variables that possibly relate to or influence crowding are of interest and in particular, place attachment and experience-use history (EUH). As EUH is related to place attachment and likely affects crowding, this study explored the moderating effect of place attachment dimensions on the relationships between EUH and visitor crowding evaluations. Water based recreationists at a U.S. Army Corps of Engineers site were contacted onsite and asked questions related to experience-use history, crowding evaluations, place attachment, and activity participation. Anglers and campers at the site identified similar crowding perceptions and place attachments. Only one of eight models tested revealed a moderating effect. Specifically, place identity moderated the relationship between the total times visited in the past twelve months and expected crowding among anglers. As such, the quest continues to understand the relationship among these important variables.     

The Predatory Bird Monitoring Scheme: identifying chemical risks to top predators in Britain

The Predatory Bird Monitoring Scheme (PBMS) is a long term (>40 y), UK-wide, exposure monitoring scheme that determines the concentration of selected pesticides and pollutants in the livers and eggs of predatory birds. This paper describes how the PBMS works, and in particular highlights some of the key scientific and policy drivers for monitoring contaminants in predatory birds and describes the specific aims, scope, and methods of the PBMS. We also present previously unpublished data that illustrates how the PBMS has been used to demonstrate the success of mitigation measures in reversing chemical-mediated impacts; identify and evaluate chemical threats to species of high conservation value; and finally to inform and refine monitoring methodologies. In addition, we discuss how such schemes can also address wider conservation needs.