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Abnormal gut motility is a feature of several mitochondrial encephalomyopathies, and mutations in genes such as TYMP and POLG, have been linked to these rare diseases. The human genome encodes three DNA ligases, of which only one, ligase III (LIG3), has a mitochondrial splice variant and is crucial for mitochondrial health. We investigated the effect of reduced LIG3 activity and resulting mitochon

Paediatric movement disorders (PMDs) comprise a large group of disorders (tics, myoclonus, tremor, dystonia, chorea, Parkinsonism, ataxia), often with mixed phenotypes. Determination of the underlying aetiology can be difficult given the broad differential diagnosis and the complexity of the genotype–phenotype relationships. This can make the diagnostic process time-consuming and difficult. In thi

Viral etiology of nasal polyps was postulated as many as 40 years ago, but so far, no study has shown an association or causal relation between any specific virus and nasal polyps. By using the polymerase chain reaction (PCR) technique, nasal polyps from both 10 patients with intolerance to nonsteroidal anti-inflammatory drugs (NSAID intolerance) (e.g., Aspirin) and from 10 patients with no histor

Proteogenomic approaches have enabled the generat̲ion of novel information levels when compared to single omics studies although burdened by extensive experimental efforts. Here, we improved a data-independent acquisition mass spectrometry proteogenomic workflow to reveal distinct molecular features related to mammographic appearances in breast cancer. Our results reveal splicing processes detecta

The nasal mucosa harbors sensory nerves containing neuropeptides such as substance P (SP), which are released by capsaicin. The neuropeptides are degraded by peptidases, e.g., neutral endopeptidase (NEP) that is present in the nasal mucosa. We studied the effect of enzymatically active recombinant NEP (rNEP) on neuropeptide-evoked secretion of nasal fluid and plasma exudation in rats. rNEP adminis

The focus of this study is how intended users of the built environment are categorized in strategies, policies, and guidelines for the planning and building process. The image of the intended user reflects a disabling society that also is in conflict with established policies on a society for all. Patterns of inequality are found in the materials, both within and across groups of users. With youth

Ultrafast, light-induced dynamics in copper-zinc-tin-sulfide (CZTS) photovoltaic nanoparticles are investigated through a combination of optical and x-ray transient absorption spectroscopy. Laser-pump, x-ray-probe spectroscopy on a colloidal CZTS nanoparticle ink yields element-specificity, which reveals a rapid photo-induced shift of electron density away from Cu-sites, affecting the molecular or

From 1985 to 2016, the prevalence of underweight decreased, and that of obesity and severe obesity increased, in most regions, with significant variation in the magnitude of these changes across regions. We investigated how much change in mean body mass index (BMI) explains changes in the prevalence of underweight, obesity, and severe obesity in different regions using data from 2896 population-ba

Traces a multifaceted discourse about Denmark in British eighteenth-century and Romantic-period cultureOffers original perspectives on British, Danish, and European Romanticism, and the relationship between themContributes to the scholarly discussion of Romantic nationalism and the emergence of the idea of ‘regional’ cultural identities in the early nineteenth centuryAddresses a wide range of Nord

Re-entrant condensation results in the formation of a condensed protein regime between two critical ion concentrations. The process is driven by neutralization and inversion of the protein charge by oppositely charged ions. Re-entrant condensation of cationic proteins by the polyvalent anions, pyrophosphate and tripolyphosphate, has previously been observed, but not for citrate, which has similar

In the present study, we investigated lipid membrane interactions of silica nanoparticles as carriers for the antimicrobial peptide LL-37 (LLGDFFRKSKEKIGKEFKRIVQRIKDFLRNLVPRTES). In doing so, smooth mesoporous nanoparticles were compared to virus-like mesoporous nanoparticles, characterized by a "spiky"external surface, as well as to nonporous silica nanoparticles. For this, we employed a combinat

In-cycle closed-loop combustion control has been proved to reduce cycle-to-cycle variations on emissions and indicated thermal efficiency. In this paper, the in-cycle closed-loop combustion con-trollability achieved by a pilot-main fuel injection scheme is investigated. The controllability is studied by means of the maximum reachable indicated thermal efficiency (MRE). A combustion model is used f

Purpose: This study aims to explore negotiations of hope in everyday life for families where a child with spinal muscular atrophy (SMA) has received a new drug treatment. Methods: A narrative design was used, drawing on interviews and participant observations in two families with children with SMA, types 1–2, to situate family experiences of hope in everyday life. Narrative analysis was used on th

Aims. Spatial distribution and growth of dust in a clumpy protoplanetary disk subject to vigorous gravitational instability and fragmentation is studied numerically with sub-au resolution using the FEOSAD code. Methods. Hydrodynamics equations describing the evolution of self-gravitating and viscous protoplanetary disks in the thin-disk limit were modified to include a dust component consisting of

Gas-giant planets, like Jupiter and Saturn, acquire massive gaseous envelopes during the approximately 3 Myr-long lifetimes of protoplanetary discs. In the core accretion scenario, the formation of a solid core of around ten Earth masses triggers a phase of rapid gas accretion. Previous 3D grid-based hydrodynamical simulations found that runaway gas accretion rates correspond to approximately 10 t