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EMILIN1 (elastin-microfibril-interface-located-protein-1) is a structural component of the elastic fiber network and localizes to the interface between the fibrillin microfibril scaffold and the elastin core. How EMILIN1 contributes to connective tissue integrity is not fully understood. Here, we report bi-allelic EMILIN1 loss-of-function variants causative for an entity combining cutis laxa, arte

This article investigates the translation of Good Night Storiesfor Rebel Girls: 100 Tales of Extraordinary Women, a children’s bookwritten and published by Elena Favilli and Francesca Cavallo in 2016.Within the framework of Gideon Toury’s Descriptive Translation Studiesand Katharina Reiss’ text typology, the study focuses on the Swedish trans-lation Godnattsagor för rebelltjejer: 100 berättelser o

The structures of metal ions in solution constitute essential information for obtaining chemical insight spanning from catalytic reaction mechanisms to formation of functional nanomaterials. Here, we explore Zr4+ solution structures using X-ray pair distribution function (PDF) analysis across pH (0-14), concentrations (0.1-1.5 M), solvents (water, methanol, ethanol, acetonitrile) and metal sources

Background and purpose: Neoadjuvant chemoradiotherapy (nCRT) is used in locally recurrent rectal cancer (LRRC) to increase chances of a radical surgical resection. Delineation in LRRC is hampered by complex disease presentation and limited clinical exposure. Within the PelvEx II trial, evaluating the benefit of chemotherapy preceding nCRT for LRRC, a delineation guideline was developed by an exper

Introduction About 20% of the adult population have chronic pain, often associated with psychological distress, sick leave and poor health. There are large variations in the clinical picture. A biopsychosocial approach is used in investigation and treatment. The concept of personalised medicine, that is, optimising medication types and dosages for individual patients based on biomarkers and other

Purpose: We aimed to analyze the risk of cardiomyopathies (CMPs) among first-generation and second-generation immigrants. Methods: All individuals aged 18 years of age and older, n = 6,123,661 in the first-generation study, and n = 4,587,764 in the second-generation study were analyzed. CMP was defined as at least one registered diagnosis in the National Patient Register between January 1, 1998 an

The goal of the OPTIKNEE consensus is to improve knee and overall health, to prevent osteoarthritis (OA) after a traumatic knee injury. The consensus followed a seven-step hybrid process. Expert groups conducted 7 systematic reviews to synthesise the current evidence and inform recommendations on the burden of knee injuries; risk factors for post-traumatic knee OA; rehabilitation to prevent post-t

BACKGROUND: Magnetic resonance imaging (MRI) carries prognostic importance after traumatic brain injury (TBI), especially when computed tomography (CT) fails to fully explain the level of unconsciousness. However, in critically ill patients, the risk of deterioration during transfer needs to be balanced against the benefit of detecting prognostically relevant information on MRI. We therefore aimed

Even though hematopoietic stem cells (HSC) are characterized by their ability to self-renew and differentiate, they primarily reside in quiescence. Despite the immense importance of this quiescent state, its maintenance and regulation is still incompletely understood. Schlafen2 (Slfn2) is a cytoplasmic protein known to be involved in cell proliferation, differentiation, quiescence, interferon resp

CONTEXT: Vitamin D (Vit-D), parathyroid hormone (PTH), and fibroblast growth factor 23 (FGF23) are the major calciotropic hormones involved in the regulation of blood calcium levels from the intestine, kidney, and bone through a tight endocrine feedback loop system. Altered levels of calcium itself or through the effect of its regulatory hormones could affect blood pressure (BP), but the exact mec

PURPOSE: To develop a psychometrically robust electronic patient reported outcome measure (ePROM) for refractive surgery. SETTING: Moorfields Eye Hospital, London, United Kingdom. DESIGN: Questionnaire development study. METHODS: Items were derived in 6 domains (spectacle dependence, visual quality, eye comfort, functional freedom, emotional wellbeing, and satisfaction with treatment) from existin

The objective was to increase understanding of how knee-injured people make sense of using the Motor Imagery to Facilitate Sensorimotor Re-Learning (MOTIFS) training intervention. This model integrates structured psychological skills training into existing care-as-usual (CaU) rehabilitation protocols. To better understand patients' lived experiences of MOTIFS, it was necessary to understand those

Background: Despite decades of engineering efforts, recombinant Saccharomyces cerevisiae are still less efficient at converting d-xylose sugar to ethanol compared to the preferred sugar d-glucose. Using GFP-based biosensors reporting for the three main sugar sensing routes, we recently demonstrated that the sensing response to high concentrations of d-xylose is similar to the response seen on low

Aim: To explore whether physiotherapy use is increased after hospitalization with COVID-19 with or without respiratory support vs. other respiratory tract infections (RTI). Methods: In all Norwegian residents aged 18–80 years who were hospitalized with COVID-19 (N = 5,344) or other RTI (N = 82,235) between July 1st 2017 and August 1st 2021, we used a pre-post study design to explore the weekly ind

Understanding the coupling of nitrogen (N) and carbon (C) cycles of land ecosystems requires understanding microbial element use efficiencies of soil organic matter (SOM) decomposition. Whereas important controls of those efficiencies by microbial community adaptations have been shown at the scale of a soil pore, a simplified representation of those controls is needed at the ecosystem scale. Howev

Objective To evaluate hydroxychloroquine (HCQ)-related retinal toxicity in the Systemic Lupus International Collaborating Clinics (SLICC) inception cohort. Methods Data were collected at annual study visits between 1999 and 2019. We followed patients with incident SLE from first visit on HCQ (time zero) up to time of retinal toxicity (outcome), death, loss-to-follow-up or end of study. Potential r

Giant cell arteritis (GCA), the most common non-infectious vasculitis, mainly affects elderly individuals. The disease usually affects the aorta and its main supra-aortic branches causing both general symptoms of inflammation and specific ischemic symptoms because of the limited blood flow due to arterial structural changes in the inflamed arteries. The pathogenesis of the GCA is complex and inclu

The role of precipitation (P) variability with respect to evapotranspiration (ET) and its two components, transpiration (T) and evaporation (E), from savannas continues to draw significant research interest given its relevance to a number of ecohydrological applications. Our study reports on 6 years of measured ET and estimated T and E from a grazed savanna grassland at Welgegund, South Africa. An

Here we review probing biological processes initiated by the deposition of droplets on surfaces by micro- and nanobeam X-ray scattering techniques using synchrotron radiation and X-ray free-electron laser sources. We review probing droplet evaporation on superhydrophobic surfaces and reactions with substrates, basics of droplets deposition and flow simulations, droplet deposition techniques and pr