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3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency is considered to be a rare cause of congenital microcephaly, infantile onset of intractable seizures and severe psychomotor retardation. Here, we report for the first time a very mild form of genetically confirmed 3-PGDH deficiency in two siblings with juvenile onset of absence seizures and mild developmental delay. Amino acid analysis showed se

In recent years there has been an increased interest in the function of inhibitory interneurons. In the cerebellum this interest has been paired with successes in obtaining recordings from these neurons in vivo and genetic manipulations to probe their function during behavioral tasks such as motor learning. This review focuses on a synthesis of recent findings on the computational properties that

Hematopoietic stem cells (HSCs) compose a rare population of undifferentiated cells, residing in the bone marrow of adult individuals, ensuring life-long maintenance and replenishment of the blood system. This fantastic achievement is possible owing to two special characteristics of the HSCs: their ability to make copies of themselves (self-renew), and their capacity to differentiate to all lineag

As automatic sensing and Information and Communication Technology (ICT) get cheaper, building monitoring data is easier to obtain. The abundance of data leads to new opportunities in the context of energy efficiency in buildings. This paper describes ongoing developments and first results of data-driven grey-box modelling for buildings. A Python toolbox is developed based on a Modelica library wit

Cleveland (1979) is usually credited with the introduction of the locally weighted regression, Loess. The concept was further developed by Cleveland and Devlin (1988). The general idea is that for an arbitrary number of explanatory data points x_i the value of a dependent variable is estimated ŷ_i. The ŷ_i is the fitted value from a dth degree polynomial in x_i

Background: Terlipressin has been suggested as the ideal drug to treat anesthesia-induced hypotension in patients under long-term renin-angiotensin system inhibitor treatment for arterial hypertension. The authors compared the effects of terlipressin and norepinephrine on systemic hemodynamic parameters and gastric mucosal perfusion using a laser Doppler flowmetry technique in patients treated wit

Numerous economic recovery packages have been implemented to stimulate green economic growth through the deployment of low-carbon technologies. The emerging literature shows, however, that there is substantial ambiguity and discrepancy about how to measure the performance of policy instruments driving a Green Economy in general, and in our case, a Green Energy Economy (GEE) in particular. Identifi

Dijet angular distributions provide an excellent tool for looking at high transverse momentum parton interactions in order to study both QCD and new physics processes. With the Large Hadron Collider (LHC) recently brought into use, an unprecedented energy regime has opened up. ATLAS is one of the experiments at the LHC. Its high performance calorimeter system providing near hermetic coverage in th

Using correlated ab initio methods, the polarizability of large [4n + 2]-annulenes is determined, showing that there exists an almost linear relation between the exaltation of magnetic susceptibility (a measure of aromaticity) and an equivalent enlargement of polarizability.

The Sheinwoodian succession of Gotland comprises the Högklint, Tofta and Hangvar Formations and most of the Slite Group. The succession consists of hierarchically ordered shallow marine depositional cycles, produced by orbitally forced climate changes. During warmer and wetter intervals (climate maxima) more carbonate was produced than during the cooler and dryer climate minima. Higher carbonate p

BMD and clinical risk factors predict hip and other osteoporotic fractures. The combination of clinical risk factors and BMD provide higher specificity and sensitivity than either alone. Introduction and hypotheses To develop a risk assessment tool based on clinical risk factors (CRFs) with and without BMD. Methods Nine population-based studies were studied in which BMD and CRFs were documented at