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Currently, no reliable genotype–phenotype correlation is available for pediatric Marfan patients in everyday clinical practice. We investigated correlations of FBN1 variants with the prevalence and age of onset of Marfan manifestations in childhood and differentiated three groups: missense/in-frame, splice, and nonsense/frameshift variants. In addition, we differentiated missense variants destroying or generating a cysteine (cys-missense) and alterations not affecting cysteine. We categorized 105 FBN1-positive pediatric patients. Patients with cys-missense more frequently developed aortic dilatation (p = 0.03) requiring medication (p = 0.003), tricuspid valve prolapse (p = 0.03), and earlier onset of myopia (p = 0.02) than those with other missense variants. Missense variants correlated with a higher prevalence of ectopia lentis (p = 0.002) and earlier onset of pulmonary artery dilatation (p = 0.03) than nonsense/frameshift, and dural ectasia was more common in the latter (p = 0.005). Pectus excavatum (p = 0.007) appeared more often in patients with splice compared with missense/in-frame variants, while hernia (p = 0.04) appeared earlier in the latter. Findings on genotype–phenotype correlations in Marfan-affected children can improve interdisciplinary therapy. In patients with cys-missense variants, early medical treatment of aortic dilatation seems reasonable and early regular ophthalmologic follow-up essential. Patients with nonsense/frameshift and splice variants require early involvement of orthopedic specialists to support the growing child.

Comets hold the key to the understanding of our solar system, its formation and its evolution, and to the fundamental plasma processes at work both in it and beyond it. A comet nucleus emits gas as it is heated by the sunlight. The gas forms the coma, where it is ionised, becomes a plasma and eventually interacts with the solar wind. Besides these neutral and ionised gases, the coma also contains dust grains, released from the comet nucleus. As a cometary atmosphere develops when the comet travels through the solar system, large-scale structures, such as the plasma boundaries, develop and disappear, while at planets such large-scale structures are only accessible in their fully grown, quasi-steady state. In situ measurements at comets enable us to learn both how such large-scale structures are formed or reformed and how small-scale processes in the plasma affect the formation and properties of these large scale structures. Furthermore, a comet goes through a wide range of parameter regimes during its life cycle, where either collisional processes, involving neutrals and charged particles, or collisionless processes are at play, and might even compete in complicated transitional regimes. Thus a comet presents a unique opportunity to study this parameter space, from an asteroid-like to a Mars- and Venus-like interaction. Fast flybys of comets have made many new discoveries, setting the stage for a multi-spacecraft mission to accompany a comet on its journey through the solar system. This white paper reviews the present-day knowledge of cometary plasmas, discusses the many questions that remain unanswered, and outlines a multi-spacecraft ESA mission to accompany a comet that will answer these questions by combining both multi-spacecraft observations and a rendezvous mission, and at the same time advance our understanding of fundamental plasma physics and its role in planetary systems.

Laser-induced acoustic desorption (LIAD) has recently been established as a tool for analytical chemistry. It is capable of launching intact, neutral, or low charged molecules into a high vacuum environment. This makes it ideally suited to mass spectrometry. LIAD can be used with fragile biomolecules and very massive compounds alike. Here, we apply LIAD time-of-flight mass spectrometry (TOF-MS) to the natural biochromophores chlorophyll, hemin, bilirubin, and biliverdin and to high mass fluoroalkyl-functionalized porphyrins. We characterize the variation in the molecular fragmentation patterns as a function of the desorption and the VUV postionization laser intensity. We find that LIAD can produce molecular beams an order of magnitude slower than matrix-assisted laser desorption (MALD), although this depends on the substrate material. Using titanium foils we observe a most probable velocity of 20 m/s for functionalized molecules with a mass m = 10 000 Da.

Hausaufgaben spielen in der Paartherapie unabhängig von deren theoretischer Ausrichtung eine bedeutende Rolle. Dabei variieren je nach therapeutischem Ansatz die Form der Inhalt die Häufigkeit und der Zeitpunkt im therapeutischen Prozess wann Hausaufgaben aufgegeben werden. Bezüglich Funktion der Hausaufgabe gibt es deutlich weniger Differenzen und die meisten Richtungen der Paartherapie anerkennen den Nutzen von Hausaufgaben zur Gewinnung neuer Einsichten oder zur Vertiefung und Festigung von neuen Verhaltensweisen Kognitionen oder Emotionen. Gerade in der Verhaltenstherapie mit Paaren spielen Hausaufgaben eine zentrale Rolle. Sie sind häufig inhaltlich und formal strukturiert und werden im Gegensatz zu anderen Ansätzen als verpflichtender Beitrag des Paares zum Gelingen der Therapie angesehen. Dieser Artikel versucht einen Überblick über den Einsatz und die Bedeutung von Hausaufgaben in der Paartherapie sowie über verschiedene Formen und Handhabungsmöglichkeiten zu geben. Schwierigkeiten mit Hausaufgaben im Rahmen der Paartherapie werden ebenfalls thematisiert.

Data transmission at the upgraded Large Hadron Collider experiments, foreseen for mid 2020s will be in the multi Gbit/s range per connection for the innermost detector layers. This paper reports on first tests on the possible use of carbon cables for electrical data transmission close to the interaction point. Carbon cables have the potential advantage of being light, having a low activation and easy integration into the detector components close to the interaction point. In these tests commercially available carbon cables were used, in which the filaments had a very thin nickel coating. For these cables data rates beyond 1 Gbit/s over more than 1m with an error rate of less than 10^{-12} could be transmitted. The characteristics of the cables have been measured in terms of S-parameters and could be reproduced with a Spice model. Some outlook on potential further improvements is presented., Comment: 18 pages, 14 figures

Engineering and programming approaches for collective adaptive systems often leverage ensemble-like abstractions to characterise a subset of devices as a domain for a given task or computation. In this paper, we address the problem of programming the dynamic evolution of distributed computational aggregates, through neighbour-based coordination. This is a problem of interest, since several situated activities (especially in large-scale settings) require decentralised collaboration, and need to be sustained by limited subsets of devices. These subsets may vary dynamically due to delegation, completion of local contributions, exhaustion of resources, failure, or change in the device set induced by the openness of system boundaries. In order to study and develop how distributed aggregates progressively take form by local coordination, we build on the field-based framework of aggregate processes, and extend it with techniques to support more expressive evolution dynamics. We propose novel algorithms for more effective propagation and closure of the boundaries of dynamic aggregates, based on statistics on the information speed and a notion of progressive closure through wave-like propagation. We verify the proposed techniques by simulation of a paradigmatic case study of multihop message delivery in mobile settings, and show increased performance and success rate with respect to previous work.