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Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy

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

Diagnostic approach to paediatric movement disorders : a clinical practice guide

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

Search for the human papillomavirus in nasal polyps, using a polymerase chain reaction-method

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 Workflow Reveals Molecular Phenotypes Related to Breast Cancer Mammographic Appearance

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

Effect of recombinant neutral endopeptidase (EC 3.4.24.11) on neuropeptide-mediated nasal fluid secretion and plasma exudation in the rat

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

Young, Mobile, and Highly Educated Cyclists: How Urban Planning and Policy Dis/able Users

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

Element-specific investigations of ultrafast dynamics in photoexcited Cu2ZnSnS4 nanoparticles in solution

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

Heterogeneous contributions of change in population distribution of body mass index to change in obesity and underweight

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

British Romanticism and Denmark

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

Impact of arginine−phosphate interactions on the reentrant condensation of disordered proteins

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

Membrane Interactions of Virus-like Mesoporous Silica Nanoparticles

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