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Hypomyelination is observed in the context of a growing number of genetic disorders that share clinical characteristics. The aim of this study was to determine the possible role of magnetic resonance imaging pattern recognition in distinguishing different hypomyelinating disorders, which would facilitate the diagnostic process. Only patients with hypomyelination of known cause were included in thi
Early aetiological diagnosis is of paramount importance for childhood dystonia because some of the possible underlying conditions are treatable. Numerous genetic and non-genetic causes have been reported, and diagnostic workup is often challenging, time consuming and costly. Recently, a paradigm shift has occurred in molecular genetic diagnostics, with next-generation sequencing techniques now all
Neural stem cell populations generate a wide spectrum of neuronal and glial cell types in a highly ordered fashion. MicroRNAs are essential regulators of this process. T-UCstem1 is a long non-coding RNA containing an ultraconserved element, and in vitro analyses in pluripotent stem cells provided evidence that it regulates the balance between proliferation and differentiation. Here we investigate
A major focus of Alzheimer's disease (AD) research has been finding sensitive outcome measures to disease progression in preclinical AD, as intervention studies begin to target this population. We hypothesize that tailored measures of longitudinal change of the medial temporal lobe (MTL) subregions (the sites of earliest cortical tangle pathology) are more sensitive to disease progression in precl
To capture highly dynamic biological processes at cellular resolution is a recurring challenge in biology. Here we show that combining selective-volume illumination with simultaneous acquisition of orthogonal light fields yields three-dimensional images with high, isotropic spatial resolution and a significant reduction of reconstruction artefacts, thereby overcoming current limitations of light-f
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
Abstract in Spanish:Este estudio presenta un análisis de las cubiertas de una selección de novelas negras suecas, publicadas en Grecia y en el mundo hispanohablante durante el periodo de 2000-2017. Las imágenes de cubierta son importantes en el sistema paratextual (Genette, 1991); a partir de las teorías sobre el paratexto aplicadas al campo de los estudios de traducción, proponemos comparar las cThis study is an analysis of the book cover images of a selection of Swedish crime literature, published in Greece and the Spanish-speaking world in the period of 2000-2017. Covers are crucial to the paratextual signal system (Genette, 1991); departing from theories on paratext within translation studies, we aim to compare the original book covers to the covers of the translated volumes. Do the Gr
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
Migration represents a major transformation of the lives of those involved and has been transformative of societies and economies globally. Yet models of sustainability transformations do not effectively incorporate the movement of populations. There is an apparent migration-sustainability paradox: migration plays a role as a driver of unsustainability as part of economic globalisation, yet simult
In this paper, we have investigated, by means of quantitative and statistical methods, stability and change in cultural vocabulary of Indo-European in Europe, with a focus on agriculture. For this purpose we have created a culture vocabulary list with lexical head words, organized into subcategories based on their role and function in a cultural system, the purpose of which is to give a representa
Methods: Three hundred and eighty newly diagnosed ANCA-associated vasculitis patients from six European multicentre studies treated with AZA maintenance were included; 58% were male, median age at diagnosis 59.4 years (interquartile range: 48.3-68.2 years); granulomatosis with polyangiitis, n = 236; microscopic polyangiitis, n = 132; or renal limited vasculitis, n = 12. Patients were grouped accor
Regulation of C4b-binding protein (C4BP) isoforms during acute phase and its relationship to the plasma concentration of free protein S was elucidated. An assay for β chain containing C4BP (C4BPβ+) was developed and the concentrations of total C4BP, C4BPβ+, total, free, and bound protein S were measured in patients with acute-phase response. Even though total C4BP was increased to 162% (mean value
The savanna complex is a highly diverse global biome that occurs within the seasonally dry tropical to sub-tropical equatorial latitudes and are structurally and functionally distinct from grasslands and forests. Savannas are open-canopy environments that encompass a broad demographic continuum, often characterised by a changing dominance between C3-tree and C4-grass vegetation, where frequent env
Osteopontin (OPN) is involved in various physiological processes and also implicated in multiple pathological states. It has been suggested that OPN may have a role in type 2 diabetes (T2D) by protecting pancreatic islets and interaction with incretins. However, the regulation and function of OPN in islets, especially in humans, remains largely unexplored. In this study, we performed our investiga
Material and energy costs represent about 50% of the operating costs incurred by European small and medium-sized enterprises (SMEs). Although the potential for resource efficiency improvements is high, the necessary awareness and human resource capacities to explore this potential are limited. Existing tools for exploration of resource efficiency improvement potentials have several shortcomings: t
There is considerable pressure to define the key requirements of 5G, develop 5G standards, and perform technology trials as quickly as possible. Normally, these activities are best done in series but there is a desire to complete these tasks in parallel so that commercial deployments of 5G can begin by 2020. 5G will not be an incremental improvement over its predecessors; it aims to be a revolutio
In a previous study, we detected a significant association between phosphoserine aminotransferase 1 (PSAT1) hyper-methylation and mRNA levels to outcome to tamoxifen treatment in recurrent disease. We here aimed to study the association of PSAT1 protein levels to outcome upon tamoxifen treatment and to obtain more insight in its role in tamoxifen resistance. A cohort of ER positive, hormonal thera
In the course of 2000s, the region of Campania in southern Italy and its capital city Naples became global icons of waste mismanagement after the images of piles of rubbish occluding their urban areas hit the headlines. Conventional explanations, in Italy and elsewhere, pointed to administrative failure, cultural backwardness and mafia infiltration as the main causes of waste mishandling. In the s
