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Background: Newborn screening (NBS) for long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) deficiency does not discriminate between isolated LCHAD deficiency, isolated long-chain keto acyl-CoA (LCKAT) deficiency and general mitochondrial trifunctional protein (MTP) deficiency. Therefore, screening for LCHAD deficiency inevitably comprises screening for MTP deficiency, which is much less amenable
In 2020, the IOC proposed a universal methodology for the recording and reporting of data for injury and illness in sport. Para sport is played by individuals with impairment, and they have a unique set of considerations not captured by these recommendations. Therefore, the aim of this addendum to IOC consensus statement was to guide the Para sport researcher through the complexities and nuances t
Protected and spin-polarized transport channels are the hallmark of topological insulators, coming along with an intrinsic strong spin-orbit coupling. Here we identified such corresponding chiral states in epitaxially grown zigzag graphene nanoribbons (zz-GNRs), albeit with an extremely weak spin-orbit interaction. While the bulk of the monolayer zz-GNR is fully suspended across a SiC facet, the l
Ecologists and evolutionary biologists are well aware that natural and sexual selection do not operate on traits in isolation, but instead act on combinations of traits. This long-recognized and pervasive phenomenon is known as multivariate selection, or—in the particular case where it favours correlations between interacting traits—correlational selection. Despite broad acknowledgement of correla
BACKGROUND: The identification of novel predictors of poor outcome may help stratify cardiovascular risk. Aim was to evaluate the individual contribution of blood cell count parameters, as well as their clustering, on the risk of death and cardiovascular events over the long term in the population-based Malmö Diet and Cancer Study cohort.METHODS: In 30,447 individuals (age 57 ± 8 years), we assess
An essential step for improving climate change models' performance is to evaluate their ability to represent the current climate conditions, especially extreme events. On such background, this study aims at evaluating the performance of the Quantile Delta Mapping (QDM) as a bias correction method for annual maximum daily precipitation series (bmax) generated from downscaled climate change models u
Objective This scoping review examines how different levels and types of partial foot amputation affect gait and explores how these findings may affect the minimal impairment criteria for wheelchair tennis.Methods Four databases (PubMed, Embase, CINAHL and SPORTDiscus) were systematically searched in February 2021 for terms related to partial foot amputation and ambulation. The search was updated
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
We aim to provide a critical appraisal of basic concepts underlying signal recording and processing technologies applied for (i) atrial fibrillation (AF) mapping to unravel AF mechanisms and/or identifying target sites for AF therapy and (ii) AF detection, to optimize usage of technologies, stimulate research aimed at closing knowledge gaps, and developing ideal AF recording and processing technol
Background: Coronary artery disease (CAD) frequently coexists with severe aortic valve stenosis (AS) in patients planned for transcatheter aortic valve implantation (TAVI). How to manage CAD in this patient population is still an unresolved question. In particular, it is still not known whether fractional flow reserve (FFR) guided revascularization with percutaneous coronary intervention (PCI) is
The controlled delivery of micronutrients to soil and plants is essential to increase agricultural yields. However, this is today achieved using fossil fuel-derived plastic carriers, posing environmental risks and contributing to global carbon emissions. In this work, a novel and efficient way to prepare biodegradable zinc-impregnated cellulose acetate beads for use as controlled release fertilize
Eye contact is essential for human interactions. We investigated whether humans are able to avoid eye contact while navigating crowds. At a science festival, we fitted 62 participants with a wearable eye tracker and instructed them to walk a route. Half of the participants were further instructed to avoid eye contact. We report that humans can flexibly allocate their gaze while navigating crowds a
Human complement component C4b-binding protein (C4BP) is composed of seven alpha-chains and one beta-chain. The alpha- and beta-chains are homologous and both contain multiple copies of short consensus repeats (SCR) and in addition carboxyl-terminal non-repeat regions. Each of the alpha-chains contains a binding site for C4b, whereas the beta-chain binds protein S, a vitamin K-dependent protein in
The ISSCR has developed the Informed Consent Standards for Human Fetal Tissue Donation and Research to promote uniformity and transparency in tissue donation and collection. This standard is designed to assist those working with and overseeing the regulation of such tissue and reassure the wider community and public.
Context. The formation of globular clusters remains an open debate. Dwarf starburst galaxies are efficient at forming young massive clusters with similar masses as globular clusters and may hold the key to understanding their formation. Aims. We study star cluster formation in a tidal debris, including the vicinity of three tidal dwarf galaxies, in a massive gas-dominated collisional ring around N
Human Group IIA secreted phospholipase A2 (hGIIA) is an acute phase protein with bactericidal activity against Gram-positive bacteria. Infection models in hGIIA transgenic mice have suggested the importance of hGIIA as an innate defense mechanism against the human pathogens Group A Streptococcus (GAS) and Group B Streptococcus (GBS). Compared to other Gram-positive bacteria, GAS is remarkably resi
Standardization research is a fairly new and is a still-evolving field of research, with possibly major practical ramifications. This article presents a summary of the authors' subjective views of the most pressing research topics in the field. These include, among others, standards (e.g. incorporation of ethical issues), the potential impact of standards, the corporate management of standardizati
BACKGROUND: Although growing evidence suggests that early-life excess manganese (Mn) impairs neurodevelopment, data on the neurodevelopmental effects of mancozeb, a fungicide containing Mn, and its main metabolite ethylenethiourea (ETU) are limited. OBJECTIVE: We examined whether prenatal mancozeb exposure and excess Mn were associated with neurodevelopment in 355 1-y-old infants living near banan
