Patients with an ADCY5 gene mutation reveal a heterogenous clinical presentation including axial hypotonia, motor milestone delay, fluctuating dyskinesias, dystonia, and/or myoclonus with episodic exacerbations during drowsiness and sleep.1,2 Phenotype-genotype correlations and somatic mosaicism are suggested to explain the wide phenotypic spectrum.1 The ADCY5 gene encodes 1 of 9 membrane-bound ad

International studies have noted shortcomings in food safety knowledge and behaviour among university students. In general students do not constitute a pronounced risk group but there are wider implications. In a foreseeable future some of them will become pregnant and a majority will be responsible for vulnerable groups in their near environment. A crucial question exists, therefore, about their

Active avoidance of information is gaining attention in behavioral sciences, and recently also its’ relevance from an economic theory perspective. We explore motivations and policy implications of active avoidance of carbon emission information. In a stated preference survey respondents were asked to indicate if they wished to access carbon emission information (info-takers) or not (info-decliners

In the present study, a morphological model based on the main governing processes of inlet channels was developed for application in long-term simulations, requiring minimum data on forcing and only key information on the inlet geometry. The model considers the balance between the inlet sand transport due to tides and river flows and the longshore transport due to breaking waves. The resulting equ

The German Geophysical Society (Deutsche Geophysikalische Gesellschaft, DGG) was founded in 1922 in Leipzig, Germany, on the initiative of the famous German seismologist Emil Wiechert (1861–1928), known for his fundamental work to record earthquake waves to study the earth's interior. Facing the German historical background of the early 20th century, the 24 founding members wanted to lead German g

Phenotypic and biochemical categorization of humans with detrimental variants can provide valuable information on gene function. We illustrate this with the identification of two different homozygous variants resulting in enzymatic loss-of-function in LDHD, encoding lactate dehydrogenase D, in two unrelated patients with elevated D-lactate urinary excretion and plasma concentrations. We establish

Background: Pressure overload of the heart occurs in patients with hypertension or valvular stenosis and induces cardiac fibrosis because of excessive production of extracellular matrix by activated cardiac fibroblasts. This initially provides essential mechanical support to the heart, but eventually compromises function. Osteopontin is associated with fibrosis; however, the underlying signaling m

A main objective of the research is to develop an educational math game based on the pedagogies of learning by teaching (Bargh & Schul, 1980) , peer coaching and social role models (Bandura1986, 2000; Schunk, 1987) while exploiting a tight interrelation of task oriented and socially oriented conversation. Another objective is to use the game to explore the mentioned pedagogical topics via desi

Today our economy is largely based on linear material flows, and many products, such as electronics, furniture,building materials and textiles, are discarded even when they could still be used. Without urgent action, globalwaste is expected to increase by 70% by 2060 and global materials use is expected to more than double. We arestarting to realise that linear material flows are not only a loss o

Expert advice is often biased in ways that benefit the advisor. We demonstrate how self-deception helps advisors be biased while preserving their self-image as ethical and identify limits to advisors' ability to self-deceive. In experiments where advisors recommend one of two investments to a client and receive a commission that depends on their recommendation, we vary the timing at which advisors