INTRODUCTION: Variants in collagen-related genes COL1A1, COL3A1, COL5A1 andCOL5A2 are associated with Ehlers-Danlos syndrome (EDS), a heterogeneous groupof connective tissue disorders strongly associated with increased bleeding. Of patientswith incompletely explained bleeding diathesis, a relatively high proportion were shown to harbour at least one heterozygous variant of unknown significance (VU

Foregrounding standards like ‘proportionality’ and ‘necessity’ have come to assume a central place in the international legal vocabulary for assessing the legitimacy of war. In both ethical and practical terms, the shift towards common standards provides a useful vernacular to assess military operations. But the question remains: how should these terms be interpreted and applied and by whom? Simul

The paper aims to identify and analyse potential legal avenues for phasing out fossil fuels in the European Union using EU State aid rules. Our analysis of the EU’s legal framework reveals that the EU State aid rules would allow the European Commission to effectively target and monitor fossil fuel subsidies. In particular, the requirements for notification, examination, transparency, reporting, an

Background: The occurrence of mosaicism in hemophilia A (HA) has been investigated in several studies using different detection methods.Objectives: To characterize and compare the ability of AmpliSeq/Ion Torrent sequencing and droplet digital polymerase chain reaction (ddPCR) for mosaic detection in HA.Methods: Ion Torrent sequencing and ddPCR were used to analyze 20 healthy males and 16 mothers o

The number of policies that address the various life cycle environmental impacts of products are increasing, especially in Europe. With the rise of the Circular Economy (CE) concept, the traditional product policies have been supported by new ones that pursue new policy objectives such as increasing product lifetimes and encourage more repairs. In this contribution we discuss principles for improv

Integration of disaster risk reduction (DRR) and climate change adaptation (CCA) is widely recognized as a solution for reducing the risk and impacts of disasters. However, successful integration seems elusive, and the two goals continue to function in isolation and in parallel. This article provides empirical insights into the perceived effects of separating government institutions for DRR and CC

Flood risk is a great global concern that is not only affecting developing countries, but threatens to undermine sustainable development also in the most affluent advanced liberal democracies. While political inertia is delaying much needed global change, efforts to reduce risk and adapt to a changing climate are growing on more local levels. However, floods tend not to be bounded by geopolitical,

In this article we elaborate on the process of institutionalization in the Higher Education performance evaluation ecosystem. We argue, we can observe a shift in how research evaluation functions, namely, from the contribution to knowledge to that of the societal influence of research. Such an axiological shift in evaluation goes to the very core of academic scholarship, as the commoditised neolib

In addition to their fundamental role in clearance, the kidneys release select molecules into the circulation, but whether any of these anabolic functions provides insight on kidney health is unknown. Using aptamer-based proteomics, we characterized arterial (A)-to-renal venous (V) gradients for >1,300 proteins in 22 individuals who underwent invasive sampling. Although most of the proteins that c