Prenatal ultrasound finding of atypical genitalia: Counseling,genetic testing and outcomes

Objective

To report uptake of genetic counseling (GC) and prenatal genetic testing after the finding of atypical genitalia on prenatal ultrasound (US) and the clinical and genetic findings of these pregnancies.

Methods

A retrospective cohort study (2017–2019) of atypical fetal genitalia in a large expert center for disorders/differences of sex development. We describe counseling aspects, invasive prenatal testing, genetic and clinical outcome of fetuses apparently without [group 1, n = 22 (38%)] or with [group 2, n = 36 (62%)] additional anomalies on US.

Results

In group 1, 86% of parents opted for GC versus 72% in group 2, and respectively 58% and 15% of these parents refrained from invasive testing. Atypical genitalia were postnatally confirmed in 91% (group 1) and 64% (group 2), indicating a high rate of false positive US diagnosis of ambiguous genitalia. Four genetic diagnoses were established in group 1 (18%) and 10 in group 2 (28%). The total genetic diagnostic yield was 24%. No terminations of pregnancy occurred in group 1.

Conclusions

For optimal care, referral for an expert fetal US scan, GC and invasive diagnostics including broad testing should be offered after prenatal detection of isolated atypical genitalia.     

Adjustment formulae for maternal serum alpha-fetoprotein,human chorionic gonadotropin,and unconjugated oestriol to maternal weight and smoking

Serum levels of alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG), and un-conjugated oestriol (uE3) were measured in serum samples of 4131 non-smoking and 1018 smoking women during the second trimester of pregnancy. The levels of all three analytes decreased with increasing body weight. The AFP median was significantly increased in smokers in a dose-response association; hCG decreased by 21 per cent and uE3 decreased by 3 per cent in smokers in a non-dose-related fashion. Regression functions for adjustment of serum levels for weight and smoking should be considered in risk estimation for Down syndrome in order to give a woman's individual risk more precisely.     

How long do you benefit from vacation? A closer look at the fade‐out of vacation effects

This study adds to research on the beneficial effects of vacation to employees' well‐being and on the fade‐out of these effects. One hundred and thirty‐one teachers completed questionnaires one time before and three times after vacationing. Results indicated that teachers' work engagement significantly increased and teachers' burnout significantly decreased after vacation. However, these beneficial effects faded out within one month. Applying hierarchical regression analyses, we investigated the fade‐out of vacation effects in detail. In line with the Job Demands‐Resources model, job demands after vacation sped up the fade‐out of beneficial effects. Additionally, leisure time relaxation experiences after vacation delayed the fade‐out of beneficial effects. We conclude that reducing job demands and ensuring leisure time relaxation can prolong relief from vacation. Copyright © 2010 John Wiley & Sons, Ltd.     

Does nitrogen deposition increase forest production? The role of phosphorus

Effects of elevated N deposition on forest aboveground biomass were evaluated using long-term data from N addition experiments and from forest observation plots in Switzerland. N addition experiments with saplings were established both on calcareous and on acidic soils, in 3 plots with Fagus sylvatica and in 4 plots with Picea abies. The treatments were conducted during 15 years and consisted of additions of dry NH₄NO₃ at rates of 0, 10, 20, 40, 80, and 160 kg N ha⁻¹ yr⁻¹. The same tree species were observed in permanent forest observation plots covering the time span between 1984 and 2007, at modeled N deposition rates of 12-46 kg N ha⁻¹ yr⁻¹. Experimental N addition resulted in either no change or in a decreased shoot growth and in a reduced phosphorus concentration in the foliage in all experimental plots. In the forest, a decrease of foliar P concentration was observed between 1984 and 2007, resulting in insufficient concentrations in 71% and 67% of the Fagus and Picea plots, respectively, and in an increasing N:P ratio in Fagus. Stem increment decreased during the observation period even if corrected for age. Forest observations suggest an increasing P limitation in Swiss forests especially in Fagus which is accompanied by a growth decrease whereas the N addition experiments support the hypothesis that elevated N deposition is an important cause for this development.     

The impact of preventive coping on business travelers' work and private life

Frequent business travel can be a burden for travelers' work and private life. We tested whether preventive coping (the proactive accumulation of resources in advance of potential stressors) makes such trips beneficial despite their potential to be stressful. In a longitudinal three‐wave study, we investigated whether frequent travel relates to an increase or decrease in work–life balance, emotional exhaustion, work engagement, and relationship satisfaction depending on preventive coping. Findings from a sample of 133 frequent business travelers revealed significant indirect effects for emotional exhaustion, work engagement, and relationship satisfaction through work–life balance. Among employees who engaged less in preventive coping, a higher number of business trips was related to a decrease in work–life balance, which, in turn, was related to more emotional exhaustion, less work engagement, and lower relationship satisfaction. Among those who reported higher preventive coping, we found opposing indirect effects: Frequent travel was related to an increase in work–life balance and, in turn, to less emotional exhaustion, more work engagement, and higher relationship satisfaction. These findings advance our knowledge in the field of business travel, future‐oriented coping, and work–life balance. They highlight that travelers and their organizations should resort to preventive coping to make frequent travel more beneficial.     

Remediation of polycyclic aromatic hydrocarbon (PAH) contaminated soil through composting with fresh organic wastes

Introduction  

Composting may enhance bioremediation of PAH-contaminated soils by providing organic substrates that stimulate the growth of potential microbial degraders. However, the influence of added organic matter (OM) together with the microbial activities on the dissipation of PAHs has not yet been fully assessed.     

Impact of soil water regime on degradation and plant uptake behaviour of the herbicide isoproturon in different soil types

The environmental fate of the worldwide used herbicide isoproturon was studied in four different, undisturbed lysimeters in the temperate zone of Middle Europe. To exclude climatic effects due to location, soils were collected at different regions in southern Germany and analyzed at a lysimeter station under identical environmental conditions. ¹⁴C-isoproturon mineralization varied between 2.59% and 57.95% in the different soils. Barley plants grown on these lysimeters accumulated ¹⁴C-pesticide residues from soil in partially high amounts and emitted ¹⁴CO₂ in an extent between 2.01% and 13.65% of the applied ¹⁴C-pesticide. Plant uptake and ¹⁴CO₂ emissions from plants were inversely linked to the mineralization of the pesticide in the various soils: High isoproturon mineralization in soil resulted in low plant uptake whereas low isoproturon mineralization in soil resulted in high uptake of isoproturon residues in crop plants and high ¹⁴CO₂ emission from plant surfaces. The soil water regime was identified as an essential factor that regulates degradation and plant uptake of isoproturon whereby the intensity of the impact of this factor is strongly dependent on the soil type.     

A new approach to investigate the interactions between sediment transport and ecotoxicological processes during flood events

Purpose

The 'step-by step' principle was introduced into the European Union legislation on genetically modified organisms as a means to cope with uncertainty about environmental risks from the release of genetically modified organisms into the environment. The approval process is orientated along the stepwise reduction of containment which reflects a precautionary approach towards the risks of genetically modified organism release. Thus, the gradual reduction of containment should keep pace with the gradual generation of risk-related knowledge. This paper strives to clarify the meaning, legal status and practical importance of the principle. It also looks at whether non-European Union countries have adopted the principle as well, and how they practice it.

Methods

The article is based on research of the relevant legal texts, court cases and legal literature. In addition, a number of dossiers of applications for the European Union authorisation of release and placing on the market of genetically modified seed were analysed.

Results and conclusions

Although 'step-by-step' is not a precise legal rule it does have legal meaning as a principle guiding the risk assessment and management of genetically modified organism introduction into the environment. Assuming a process of gradual reduction of containment and scaling up of release ranging from closed systems via experimental release to cultivation the 'step-by-step principle' requires that the knowledge on environmental risks of genetically modified organisms should be generated on stages previous to the ones where the risk can result in damage. The analysis of the legislation of China, the United States of America and Brazil showed a differentiated approach towards the step-by-step principle.     

Pharmaceutical residues in the river Rhine--results of a one-decade monitoring programme

In this paper, results of an extensive monitoring programme for pharmaceutical residues in the river Rhine are presented. For one decade (1997 until 2006), the occurrence of widely used human pharmaceuticals like analgesics, lipid regulators, antiepileptics and others has been studied at four locations along the river Rhine. The results of more than 500 analyses clearly prove that compounds such as carbamazepine or diclofenac are regularly found in the river Rhine in concentrations up to several hundred ng per litre. Combining concentration levels with data on water flow enables the calculation of transports, which e.g. for carbamazepine or diclofenac were in the range of several tons per year. The evaluation of the long-term monitoring data shows that only a slight decrease in concentration levels as well as in annual transports can be observed and thus the contamination of the river Rhine by pharmaceutical residues during the last decade has to be regarded as almost constant. Seasonal variations can be detected for bezafibrate, diclofenac and ibuprofen, for which the concentrations are much lower in the summer months. A more effective removal during wastewater treatment in the warmer periods of the year seems to be the major reason for those variations. For carbamazepine, no comparable seasonal effect can be found.