Prenatal diagnosis of Pfeiffer syndrome type II

Pfeiffer syndrome is an autosomal dominant disorder characterized by coronal craniosynostosis, midface hypoplasia, broad thumbs and great toes. On the basis of clinical findings, three subtypes have been delineated. The clinical variability of Pfeiffer syndrome as well as other causes of craniosynostosis can make a prenatal diagnosis based on sonography alone difficult. We describe a fetus in whom sonographic findings (including 3D ultrasound) suggested a Pfeiffer syndrome type II and in which subsequent molecular analysis verified the diagnosis by identifying a de novo mutation in the FGFR2 gene. To the best of our knowledge, this is the first report of a prenatal molecular diagnosis of Pfeiffer syndrome in a patient without family history. Copyright © 2004 John Wiley & Sons, Ltd.     

Humanarzneimittel im aquatischen Ökosystem

Goal

In the Brandenburg State Office for the Environment an approach to assess the potential risk of drug residues in aquatic ecosystems has been developed based on an investigation of the consumption amounts in 1999 to identify or to exclude a potential environmental risk of important human drugs and further to define priority substances for monitoring programs in Brandenburg in the future.

Method

This assessment approach tested with 60 drug agents is based on an exposure estimation considering the main path for the entry human—waste water—sewage plant—surface water, on a substance specific analysis of effects and on an analysis of the environmental fate as compartment distribution, bioaccumulation and persistence.

Results

In Brandenburg surface waters the drug agent concentration for eight of the considered substances is supposed to be greater than 1 μg/l and for at least 13 of the considered substanoes the PNEC in aquatic ecosystems is assumed to be lower than 1 μg/l. A potential risk for the environment can be seen for the antibiotics Ciprofloxacin-HCl and Clarithromycin, the disinfectants Benzalkonium Chloride, Cocospropylendiaminguaniacetat, Glucoprotamine, Laurylpropylenediamine and Polyvidone-iodine, the sexual hormon Ethinylestradiol, the antidiabetic Metformin-HCl, the antiepileptic Carbamazepine and the lipid regulator Clofibrinic acid on the basis of effects because their PEC:PNEC-relation is about 1 or higher. For further 19 drug agents an environmental risk is to be assumed because of their environmental behaviour without support by ecotoxicological data at present.

Conclusion

Although there is only a small base of valid ecotoxicological data, this risk assessment shows that adverse effects in the aquatic environment by some drug agents cannot be excluded. However, it should be noted that this first assessment gives only a crude orientation. Appropriate test data are necessary to refine the assessment in future.     

Ergebnisorientierte Honorierung ökologischer Leistungen der Landwirtschaft

Background and Objectives

As an instrument of agro-environmental economic policy, remuneration to farmers for implementing ecologically sound practices are often identified as beingthe alternative to inefficient or unpopular legal instruments. This paper shows that such an approach assumes to be an idealized conception of the way in which economic instruments work. Only result-oriented payment is capable of matching such an idealized conception; hence, the conditions are accordingly ambitious.

Key aspects

Starting from a definition of result-oriented remuneration for ecological benefits, this approach is systematically contrasted by action-oriented payments. Either is examined in respect to its comparative efficiency enabling assessment of the potential of both instruments. In the second section, the limits of the approach using result-oriented payments are discussed in relation to the corresponding prerequisites set down for them.

Results

The key criterion for distinguishing between result-oriented payments on the one hand and action-oriented payments and legal instruments on the other is the number of options available to the farmer when he/she chooses to take advantage of the payments. On the basis of this criterion, the following advantages emerge from the economic (rewards-based) approach: it promotes self-interest, increases innovative potential, reduces informational asymmetries, promotes continuity, promotes co-operative practice, promotes intrinsic motivation and, finally, it achieves a distribution of risks between farmers and society. However, one essential requirement for applying such instruments are indicators attached to payment. The attempt to develop such indicators reveal three central problems: the complexity of cause-and-effect relations, the diversity of environmental objectives and the normativity of the process by which indicators are devised. These problems simultaneously define the limits of the instrument of result-oriented payments for ecological benefits.

Conclusions

No general statements can be made about whether result-oriented payments are preferable to other instruments, as this depends on the concrete circumstances and, in particular, on the specific environmental issues involved, along with the possibilities of developing environmental indicators. However, from the economic point of view, the benefits of result-oriented payments are obvious, as long as the prerequisites for the application of this instrument can be met.

Further Research and Recommendations

Given the persuasive benefits of result-oriented payment from an economic point of view, more efforts should in future be made to test the practicability of such instruments. Two examples of result-oriented payment are discussed in this paper.     

Eggshell spotting in brood parasitic shiny cowbirds (<Emphasis Type="Italic">Molothrus bonariensis</Emphasis>) is not linked to the female sex chromosome

For avian brood parasites in which individual females are host-specialists, the arms race between hosts and parasites has favored egg color polymorphism in the parasite, with female lineages laying mimetic eggs that resemble those of the host species they parasitize. Female sex-linked inheritance of egg color fosters evolutionary stability of egg polymorphism if female lineages show both consistent eggshell color and host use. This co-evolutionary relationship is unlikely to occur if individual brood parasites use different hosts or if egg color is not maternally inherited. The shiny cowbird (Molothrus bonariensis) is an extreme generalist brood parasite that shows a very high degree of egg polymorphism. We tested whether egg spotting in this species has female sex-linked inheritance. If genetic factors controlling the expression of egg spotting were present on the female-specific W chromosome, we expected co-segregation between spotting patterns and mtDNA haplotypes, as both W and mtDNA are maternally inherited. In contrast to the known maternal inheritance of spotting patterns in great tits, we found no associations between eggshell spotting and mtDNA haplotypes, which suggests that eggshell spotting is not maternally inherited in this cowbird species.     

Environmental Footprint of Foods: The Duty to Inform

In this paper we argue that there is a duty to inform consumers about the environmental impact of foods, and discuss what this duty entails and to whom it falls. We analyze previous proposals that justify ethical traceability with arguments from sustainability and the respect for the autonomy of consumers, showing that they cannot ground a duty to inform. We argue instead that the duty rests on the right of consumers not to be harmed, insofar as consumers have an interest in the morality of their own agency that is frustrated if they are not informed about the environmental impact of the production and transport of what they consume. Our argument detaches the regulation of labeling from substantive theories of environmental ethics or perfectionist conceptions of citizens’ responsibility, thus defending a case for labeling that is compelling also for those who take the role of the state to be limited to the prevention of harm.     

Utilization of a new host in the screaming cowbird <Emphasis Type="Italic">Molothrus rufoaxillaris</Emphasis>, a host specialist brood parasite: host switch or host acquisition?

The screaming cowbird Molothrus rufoaxillaris has been long known as a host specialist brood parasite. However, in the past years, the utilization of two new hosts has been documented. We examined the variation in mitochondrial control region sequences from screaming cowbird chicks found in the nests of two hosts, the bay-winged cowbird (Agelaioides badius), which is its regular host, and the chopi blackbird (Gnorimopsar chopi), which is a new host, in Formosa Province, Argentina. If a group of females switched to this new host, we expected to find an association between host use and haplotype frequency distribution, indicating the presence of host-specific female lineages, whereas we expected no such association if the cowbird population incorporated this new host and females use both hosts simultaneously. Haplotype frequency distributions differed between cowbird chicks from the nests of both hosts. This indicates that nest choice by females of this brood parasite is not random and that they preferentially parasitize the nests of the same host species.     

Mating disruption of the honeybee mite Varroa destructor under laboratory and field conditions

Mating in the mite Varroa destructor, an ectoparasite of the honeybee, takes place within the sealed brood cell of its host and is triggered by a female sex pheromone consisting of three fatty acids and their respective ethyl esters. In a laboratory bioassay, we observed interactions among offspring of a Varroa female at 11 days after host cell capping in the absence and in the presence of the sex pheromone and clearly demonstrated that male mites were not able to distinguish between receptive daughters and either older or immature and unreceptive females when exposed to the pheromone. In addition, mating attempts in the presence of the pheromone with otherwise receptive females were clearly of shorter duration and males often failed to select a receptive female. In order to evaluate the effect of pheromone exposure on successful copulations and the number of spermatozoa transferred under field conditions, we sprayed one of the pheromone components, oleic acid, on an empty brood comb before host egg-laying and Varroa infestation and counted the spermatozoa of daughter mites taken from this comb. We could show that the number of spermatozoa was indeed reduced, and 20 % of females lacked spermatozoa. Our results open up new possibilities and represent a promising step toward biological control of Varroa mites in beehives.     

Current developments in soil ecotoxicology and the need for strengthening soil ecotoxicology in Europe: results of a stakeholder workshop

Background

Soil is one of our most important resources and fulfills many ecological functions such as storage and filtration of water and nutrients, transformation of chemical compounds and nutrients, biomass production, and carbon storage. Such soil functions support ecosystem services provided by soils, which need to be protected to protect soil fertility. However, European soils often contain elevated concentrations of contaminants, putting biodiversity of soil organisms as well as the ecological functions and services at risk. To promote soil ecotoxicology in Switzerland, the Swiss Centre for Applied Ecotoxicology together with the Federal Office for Environment and the Federal Office for Agriculture organized a stakeholder workshop on 7 June 2018 with participants from research, governmental bodies, and associations. One goal of this workshop was to inform participants about currently available risk assessment approaches for soil, the soil risk assessment for plant protection products in Europe, available bioassays and bioindicators, and results of research projects on soil contaminants in Switzerland. Another goal was to discuss the needs for research in soil ecotoxicology in Switzerland and to identify next steps, potential projects, and future collaborations.

Results

The main needs identified during the workshop were the establishment of (bio)indicators to measure soil fertility, functional parameters to determine soil functions, and the preservation of soil biodiversity. Another priority listed was the formation of a working group, which addresses the issue of the development of environmental quality standards for soil. The need for experimental field sites for implementing and testing new approaches or tools for assessing soil quality was also discussed.

Conclusion

The next steps planned are two workshops with national and international experts in soil ecotoxicology to develop a soil monitoring concept for Switzerland and to find suitable bioindicators to evaluate soil fertility. Additionally, a literature review will be performed summarizing the current ecotoxicological state of the art with regard to the development of bioindicators in relation to the monitoring of plant protection products in Swiss soil, to evaluate their effects on soil fertility. Furthermore, all attendees agreed on the need for annual meetings or workshops where experts can present scientific results, participants can exchange information, and future projects and collaborations can be developed.