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Background Isolated (sub)acute chorea in young patients is a relatively rare movement disorder with a broad differential diagnosis, including drug-induced, post-infectious, auto-immunological and vascular aetiologies. Case presentation We describe an adolescent girl with Down's syndrome presenting with chorea due to oral contraceptive usage. After discontinuation of the oral contraceptive it took

Phosphohydroxylysinuria has been described in two patients with neurological symptoms, but the deficient enzyme or mutated gene has never been identified. In the present work, we tested the hypothesis that this condition is due to mutations in the AGXT2L2 gene, recently shown to encode phosphohydroxylysine phospholyase. DNA analysis from a third patient, without neurological symptoms, but with an

Case: A 34-year-old woman was referred to our hospital with progressive movement disorders and neurodegeneration with brain iron accumulation and enlargement of the frontal diploe on the MRI. Metabolic testing revealed that she had α-mannosidosis (AMD), a lysosomal storage disorder. Background: AMD is a rare genetic disorder that causes α-mannosidase deficiency resulting in lysosomal accumulation

The issue of Critical Raw Materials (CRMs) and potential interruptions to their availability due to shortages, trade restrictions or other factors in their supply are topics that are relatively unknown to the general public. For this reason, education has been promoted as a key enabler of a circular economy. One key intervention point is the movement of electronic repair events. Repair events alre

Machine Learning (ML) applications shape, and are shaped by, human values. In the last decade classificatory models have become the most widely applied type of ML. However, since the invention of Generative Adverserial Networks (GANs) in 2014, the field of generative ML is likely to become equally prolific in the years to come. GANs can generate convincing fakes of video footage, pictures, graphic

IntroductionSelf efficacy (SE) relates to pupils' beliefs about their own capacities within a given field. It has been shown that an overestimation of one's own SE beliefs affects learning outcomes negatively. In the present study we examine SE beliefs in writing skills in two groups of secondary school pupils, one with hearing impairment, the other without.PurposeText writing is a complex skill,

The electronic spectra of three rhombic type 1 blue copper proteins, nitrite reductase, pseudoazurin, and cucumber basic protein, have been studied by ab initio multiconfigurational second-order perturbation theory (the CASPT2 method). The six lowest excitations have been calculated and assigned with an error of less than 1800 cm-1. The singly occupied orbital in the ground-state forms a strongly

Free energy perturbations have been performed on two blue copper proteins, plastocyanin and nitrite reductase. By changing the copper coordination geometry, force constants, and charges, we have estimated the maximum energy with which the proteins may distort the copper coordination sphere. By comparing this energy with the quantum chemical energy cost for the same perturbation on the isolated cop

The Rustenburg Layered Suite (RLS) of the Bushveld Complex in South Africa is the largest mafic–ultramafic-layered complex on Earth. The RLS is associated with marginal sills that penetrate into the ~2.2 billion-year-old sedimentary strata of the Pretoria Group. These sills are in contact and share some geochemical similarities with different zones of RLS and are classified in terms of chemical co

The Uitkomst Complex is considered to be coeval with, and genetically linked to the Rustenburg Layered Suite (RLS) of the Bushveld Large Igneous Province. This study reports new paleomagnetic, geochemical and geochronological results from the Uitkomst Complex and a crosscutting dyke at the Nkomati Mine. Primary magnetisations for the complex and the dyke are statistically indistinguishable. This,

High-volume, low-strength industrial wastewaters constitute a large potential for biogas production, which could be realized by membrane bioreactors operating at the ambient temperature of the wastewater. However, the start-up of low-temperature anaerobic processes using unadapted inoculum can be sensitive to overloading, which results in acidification. This study assessed if a novel acidification

During vertebrate embryonic development, cellular senescence occurs at multiple locations. To date, it has been accepted that when there has been induction of senescence in an embryonic tissue, β-galactosidase activity is detectable at a pH as high as 6.0, and this has been extensively used as a marker of cellular senescence in vivo in both whole-mount and cryosections. Such senescence-associated

We prove that for k ≫; 4√n regular resolution requires length nω(k) to establish that an ErdÅ's-Rényi graph with appropriately chosen edge density does not contain a k-clique. This lower bound is optimal up to the multiplicative constant in the exponent and also implies unconditional nω(k) lower bounds on running time for several state-of-the-art algorithms for finding maximum cliques in graphs.

U-Pb geochronology on baddeleyite is a powerful technique that can be applied effectively to chronostratigraphy. In southern Africa, the Kaapvaal Craton hosts a well-preserved Mesoarchean to Paleoproterozoic geological record, including the Neoarchean Ventersdorp Supergroup. It overlies the Witwatersrand Supergroup and its world-class gold deposits. The Ventersdorp Supergroup comprises the Klipriv

Dimethyl sulfide (DMS) is the dominant biogenic sulfur compound in the ambient marine atmosphere. Low-volatility acids from DMS oxidation promote the formation and growth of sulfur aerosols and ultimately alter cloud properties and Earth's climate. We studied the OH-initiated oxidation of DMS in the Aarhus University Research on Aerosol (AURA) smog chamber and the marine boundary layer (MBL) with

The dynamical evolution of globular clusters (GCs) is tied to their binary population, as binaries segregate to the cluster centre, leading to an increased binary fraction in the core. This central overabundance of mainly hard binaries can serve as a source of energy for the cluster and has a significant effect on the observed kinematics, such as artificially increasing the observed line-of-sight

Previous work in the areas of organizational trust repair and crisis communication has provided conflicting answers to the question of whether denial can be more effective than apology in repairing stakeholder trust in a company following an integrity-based violation. This article reportsthe results of an experiment designed to (i) test the effects of these two strategies on individuals’ trust in

Resting energy expenditure (REE) was investigated in 8 children with propionic and methylmalonic acidaemias because a lowered REE has been reported in the literature. We observed a marginally elevated REE and think that adequate caloric intake and the use of a synthetic amino acid mixture are responsible for this.