Multicenter clinical experience with non-invasive cell-free DNA screening for monosomy X and related X-chromosome variants

Objective

We aimed to investigate how the presence of fetal anomalies and different X chromosome variants influences Cell-free DNA (cfDNA) screening results for monosomy X.

Methods

From a multicenter retrospective survey on 673 pregnancies with prenatally suspected or confirmed Turner syndrome, we analyzed the subgroup for which prenatal cfDNA screening and karyotype results were available. A cfDNA screening result was defined as true positive (TP) when confirmatory testing showed 45,X or an X-chromosome variant.

Results

We had cfDNA results, karyotype, and phenotype data for 55 pregnancies. cfDNA results were high risk for monosomy X in 48/55, of which 23 were TP and 25 were false positive (FP). 32/48 high-risk cfDNA cases did not show fetal anomalies. Of these, 7 were TP. All were X-chromosome variants. All 16 fetuses with high-risk cfDNA result and ultrasound anomalies were TP. Of fetuses with abnormalities, those with 45,X more often had fetal hydrops/cystic hygroma, whereas those with “variant” karyotypes had different anomalies.

Conclusion

Both, 45,X or X-chromosome variants can be detected after a high-risk cfDNA result for monosomy X. When there are fetal anomalies, the result is more likely a TP. In the absence of fetal anomalies, it is most often an FP or X-chromosome variant.     

Prioritizing the provision of urban ecosystem services in deprived areas,a question of environmental justice

The distribution of urban ecosystem services (UES) is often uneven across socioeconomic groups, leading to environmental justice issues. Understanding the distribution of UES across a landscape can help managers ensure an equitable distribution of services. While many past studies have focused on the distribution of green spaces in relation to socioeconomic variables, this research analyzes the distribution of UES provided by these green spaces. This research quantified air pollution removal, atmospheric carbon reduction, and surface runoff mitigation provided by urban trees in Strasbourg city (France). The provision of these three UES was studied at the census block scale by creating an index of UES delivery, which was contrasted with a constructed social deprivation index. Our results show that there is no significant association between the delivery of UES and social deprivation. Some deprived populations benefit from high UES delivery. Results also suggest that mapping associations between UES delivery and social deprivation should be integrated with future development plans to enhance the equitable distribution of UES. This study provides insights into the French context where studies about the distribution of UES at a small-area level remain lacking.     

Arsenic uptake and speciation in vegetables grown under greenhouse conditions

The accumulation of arsenic (As) by vegetables is a potential human exposure pathway. The speciation of As in vegetables is an important consideration due to the varying toxicity of different As species. In this study, common Australian garden vegetables were hydroponically grown with As-contaminated irrigation water to determine the uptake and species of As present in vegetable tissue. The highest concentrations of total As were observed in the roots of all vegetables and declined in the aerial portions of the plants. Total As accumulation in the edible portions of the vegetables decreased in the order radish ≫ mung bean > lettuce = chard. Arsenic was present in the roots of radish, chard, and lettuce as arsenate (As^V) and comprised between 77 and 92% of the total As present, whereas in mung beans, arsenite (As^III) comprised 90% of the total As present. In aerial portions of the vegetables, As was distributed equally between both As^V and As^III in radish and chard but was present mainly as As^V in lettuce. The presence of elevated As in vegetable roots suggests that As species may be complexed by phytochelatins, which limits As translocation to aerial portions of the plant.     

Emergency braking is affected by the use of cruise control

Objective: We compared the differences in the braking response to vehicle collision between an active human emergency braking (control condition) and cruise control (CC) or adaptive cruise control (ACC).

Methods: In 11 male subjects, age 22 to 67 years, we measured the active emergency braking response during manual driving using the accelerator pedal (control condition) or in condition mimicking CC or ACC. In both conditions, we measured the brake reaction time (BRT), delay to produce the peak braking force (PBD), total emergency braking response (BRT + PBD), and peak braking force (PBF). Electromyograms of leg and thigh muscles were recorded during braking. The tonic vibratory response (TVR), Hoffman reflex (HR), and M-waves were recorded in leg muscles to explore the change in sensorimotor control.

Results: No difference in PBF, TVR amplitude, HR latency, and H_max/M_max ratio were found between the control and CC/ACC conditions. On the other hand, BRT and PBD were significantly lengthened in the CC/ACC condition (240 ± 13 ms and 704 ± 70 ms, respectively) compared to control (183 ± 7 ms and 568 ± 36 ms, respectively). BRT increased with the age of participants and the driving experience shortened PBD and increased PBF.

Conclusions: In male subjects, driving in a CC/ACC condition significantly delays the active emergency braking response to vehicle collision. This could result from higher amplitude of leg motion in the CC/ACC condition and/or by the age-related changes in motor control. Car and truck drivers must take account of the significant increase in the braking distance in a CC/ACC condition.     

Photolytic degradation of methyl-parathion and fenitrothion in ice and water: Implications for cold environments

Here we investigate the photodegradation of structurally similar organophosphorus pesticides; methyl-parathion and fenitrothion in water (20 °C) and ice (−15 °C) under environmentally-relevant conditions with the aim of comparing these laboratory findings to limited field observations. Both compounds were found to be photolyzed more efficiently in ice than in aqueous solutions, with quantum yields of degradation being higher in ice than in water (fenitrothion > methyl-parathion). This rather surprising observation was attributed to the concentration effect caused by freezing the aqueous solutions. The major phototransformation products included the corresponding oxons (methyl-paraoxon and fenitroxon) and the nitrophenols (3-methyl-nitrophenol and nitrophenol) in both irradiated water and ice samples. The presence of oxons in ice following irradiation, demonstrates an additional formation mechanism of these toxicologically relevant compounds in cold environments, although further photodegradation of oxons in ice indicates that photochemistry of OPs might be an environmentally important sink in cold environments.     

Should I stay or should I go? Testing optimality models of stopover decisions in migrating birds

Time-minimizing migrants should leave a stopover site if the instantaneous speed of migration drops to the average speed of migration in the environment. This argument has been used in two different ways: either there is local variation in the fuel deposition rate and a fixed expected speed or there is global variation in the fuel deposition rate, i.e. locally experienced variation represents global variation along the route. The first case leads to a far steeper relationship between departure load and fuel deposition rate than the second case. So far, data on departure loads have mainly been analysed within the concept of local variation of the fuel deposition rate and the result that the observed slopes are much lower than predicted has been explained by changes in the expected speed along the route or by individual differences in the expected speed. We show here that the observed relationships generally fall close to the predictions for global variation. We propose that migrants use a behavioural rule which projects the current experience into the future and therefore interprets local variation as global variation. Received: 3 April 1999 / Received in revised form: 22 April 1999 / Accepted: 26 April 1999