Challenges in non-invasive prenatal screening for sub-chromosomal copy number variations using cell-free DNA

Non-invasive prenatal screening (NIPS) has revolutionized the approach to prenatal fetal aneuploidy screening. Many commercial providers now offer analyses for sub-chromosomal copy number variations (CNVs). Here, we review the use of NIPS in the context of screening for microdeletions and microduplications, issues surrounding the choice of disorders tested for, and the advantages and disadvantages associated with the inclusion of microdeletions to current NIPS. Several studies have claimed benefits; however, we suggest that microdeletions have not demonstrated a low enough false positive rate to be deemed practical or ethically acceptable, especially considering their low positive predictive values. Because a positive NIPS result should be confirmed using diagnostic techniques, and false positive rates are as high as 90% for some microdeletions, diagnostic testing seems preferable when the goal is to maximize the detection of microdeletion or microduplication syndromes.     

Elimination kinetics of perfluorohexanoic acid in humans and comparison with mouse,rat and monkey

Major fluorinated chemical manufacturers have developed new short-chain per- and polyfluorinated substances with more favorable environmental, health and safety profiles. This study provides the first evaluation of the elimination half-life of perfluorohexanoic acid (PFHxA) from the blood of humans. PFHxA biomonitoring data were obtained from a recently published study of professional ski wax technicians. These data were analyzed to provide estimates of the apparent half-life of PFHxA from humans, and comparisons were made with kinetic studies of PFHxA elimination from mice, rats and monkeys. The apparent elimination half-life of PFHxA in highly exposed humans ranged between 14 and 49 d with a geomean of 32 d. The half-lives of PFHxA in mice, rats, monkeys and humans were proportional to body weight with no differences observed between genders, indicating similar volumes of distribution and similar elimination mechanisms among mammalian species. Compared to long-chain perfluoroalkyl acid analogs, PFHxA is rapidly cleared from biota. The consistent weight-normalized elimination half-lives for PFHxA in mammalian species indicates that results obtained from animal models are suitable for establishment of PFHxA benchmark dose and reference dose hazard endpoints for use in human risk assessments.     

Implementing the UNCCD: Participatory challenges

The United Nations Convention to Combat Desertification (UNCCD) emphasizes the need for public participation in land degradation assessment and rehabilitation. While participatory approaches are supported by a growing body of research and practice, meaningfully involving the people affected by land degradation is far from straightforward. This paper investigates the challenge of using the UNCCD as a guide to influence community participation in policy‐making and practice at national and local levels by analyzing experiences from three southern African countries. We show that the UNCCD represents a useful normative framework for addressing degradation problems, but that the participatory ethos is difficult to enact at the national level. Whilst there is increasing evidence that combining local and scientific knowledge using participatory mechanisms can deliver the benefits that the Convention strives to achieve, communication between researchers and practitioners, and those involved in implementing the UNCCD at the national level needs to be strengthened. Broad lessons and best practices in incorporating participatory practices into policy development are elucidated. Our case studies show that a range of mixed‐method, interdisciplinary approaches can enable policy‐makers and practitioners to meaningfully engage those who are affected by land degradation in its definition, assessment and rehabilitation.     

Homesickness,health and efficiency in first year students

The investigation is concerned with the reported incidence and frequency of homesickness following an environmental transition to university in a group of 101 first year university students. Definitions provided by students indicated that homesickness is a collective term for a number of cognitive and emotional/motivational experiences primarily associated with missing home and wanting to visit it. 60% reported homesickness. Geographical distance of the move and relative lack of satisfaction with features of the psychosocial and physical environment in the new place were found to be associated with homesickness reporting. Personality and circumstantial factors such as decisional control over the move and cognitive failure levels were also associated with homesickness reporting. A two-stage risk model is proposed in which an environmental relocation is a necessary but not a sufficient condition for homesickness; features of the new place combine with personality factors to precipitate the experience.     

A General Stochastic Model for the Prediction of Biodiversity Losses Based on Habitat Conversion

We present a model of species extinction rates that depends on the distribution of species and rates of habitat conversion. This model allows prediction of numbers of species lost as well as current extinction rates. We apply the model to plant species in the Neotropics. We examined distribution data for 51 angiosperm taxa, comprising 4258 species from Flora Neotropica monographs. Of these, 25.7% had been recorded as occurring in a single locality, with 12.8% and 9.5% being recorded from two or three localities respectively. Assuming that 18.7% of Neotropical forested area has been cleared since 1950, when 60,000 plant species existed, the model predicts that 3020 species will have been lost by 1992. At current deforestation rates, the entire Neotropics loses between 71 and 95 plant species per year. We also apply the model to individual Neotropical countries and find annual rates of within-country extinctions ranging from 0 per year in Belize to 63 per year in Ecuador. We suggest a means by which the model may be tested in the field.     

Prenatal diagnosis of complete sole trisomy 1q

The prenatal diagnosis of a complete trisomy of the long arm of chromosome 1 is reported. Major ultrasound findings included: nuchal thickening, bi-temporal narrowing, a single choroid plexus cyst, andmild ventriculomegaly. There was a mass in the chest and abdomen, pleural effusion, ascites and a hyperechoic bowel. Skin edema was present. The fetus died at 26 weeks' gestation. A literature review is presented of 17 de novo and two inherited cases with only trisomy 1q. Of note is the fact that 3/5 prenatally detected 1q trisomies have teratomas. A review of the literature reveals a dismal outcome fortrisomy 1q cases if the duplication involves bands 1q25→q32. Copyright © 2001 John Wiley & Sons, Ltd.     

Improving inferences about private land conservation by accounting for incomplete reporting

Private lands provide key habitat for imperiled species and are core components of function protectected area networks; yet, their incorporation into national and regional conservation planning has been challenging. Identifying locations where private landowners are likely to participate in conservation initiatives can help avoid conflict and clarify trade-offs between ecological benefits and sociopolitical costs. Empirical, spatially explicit assessment of the factors associated with conservation on private land is an emerging tool for identifying future conservation opportunities. However, most data on private land conservation are voluntarily reported and incomplete, which complicates these assessments. We used a novel application of occupancy models to analyze the occurrence of conservation easements on private land. We compared multiple formulations of occupancy models with a logistic regression model to predict the locations of conservation easements based on a spatially explicit social–ecological systems framework. We combined a simulation experiment with a case study of easement data in Idaho and Montana (United States) to illustrate the utility of the occupancy framework for modeling conservation on private land. Occupancy models that explicitly accounted for variation in reporting produced estimates of predictors that were substantially less biased than estimates produced by logistic regression under all simulated conditions. Occupancy models produced estimates for the 6 predictors we evaluated in our case study that were larger in magnitude, but less certain than those produced by logistic regression. These results suggest that occupancy models result in qualitatively different inferences regarding the effects of predictors on conservation easement occurrence than logistic regression and highlight the importance of integrating variable and incomplete reporting of participation in empirical analysis of conservation initiatives. Failure to do so can lead to emphasizing the wrong social, institutional, and environmental factors that enable conservation and underestimating conservation opportunities in landscapes where social norms or institutional constraints inhibit reporting.     

Assessing effects of non-native crayfish on mosquito survival

Introductions of non-native predators often reduce biodiversity and affect natural predator–prey relationships and may increase the abundance of potential disease vectors (e.g., mosquitoes) indirectly through competition or predation cascades. The Santa Monica Mountains (California, U.S.A.), situated in a global biodiversity hotspot, is an area of conservation concern due to climate change, urbanization, and the introduction of non-native species. We examined the effect of non-native crayfish (Procambarus clarkii) on an existing native predator, dragonfly nymphs (Aeshna sp.), and their mosquito larvae (Anopheles sp.) prey. We used laboratory experiments to compare the predation efficiency of both predators, separately and together, and field data on counts of dragonfly nymphs and mosquito larvae sampled from 13 local streams. We predicted a lower predation efficiency of crayfish compared with native dragonfly nymphs and a reduced predation efficiency of dragonfly nymphs in the presence of crayfish. Dragonfly nymphs were an order of magnitude more efficient predators than crayfish, and dragonfly nymph predation efficiency was reduced in the presence of crayfish. Field count data showed that populations of dragonfly nymphs and mosquito larvae were strongly correlated with crayfish presence in streams, such that sites with crayfish tended to have fewer dragonfly nymphs and more mosquito larvae. Under natural conditions, it is likely that crayfish reduce the abundance of dragonfly nymphs and their predation efficiency and thereby, directly and indirectly, lead to higher mosquito populations and a loss of ecosystem services related to disease vector control.