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Metachromatic leukodystrophy (MLD) is a rare autosomal recessive lysosomal storage disorder caused by disease-causing variants in the gene coding for arylsulfatase A, leading to deficient enzyme activity and subsequent accumulation of sulfatides. MLD is characterized by demyelination and neurodegeneration of the central and peripheral nervous system, manifesting as progressive motor and cognitive
Uncertainty in the mechanical properties and modal characteristics of Cross-Laminated Timber (CLT) significantly impacts its predictive design and analysis. While previous studies have focused on identifying sensitive mechanical properties of CLT using model updating, the uncertainty quantification of these properties and their influence on natural frequencies and modes remain underexplored. This
Uveal melanoma (UM) is a rare but frequently metastasizing cancer. Genome-wide association studies have identified three common genome-wide significant germline risk loci. Here, we perform a genome-wide association study on 401 new cases and conduct a meta-analysis with three independent previously published cohorts for a total sample size of 2,426 cases. We confirm the three previously identified
Accurately mapping crop types in smallholder farming regions is crucial for monitoring crop dynamics and estimating production but remains challenging, especially over large extents. Remote sensing based crop mapping studies in smallholder farming regions often focus on major crops and the challenge of mapping small fields. However, minor but possibly emerging crops are often overlooked, nor is th
It is by now a common trope that youth climate activism has become a ‘global phenomenon’. Yet, it also has significant regional variations. This literature review analyses eighteen academic articles on the topic of youth climate activism in Asia. We found that the literature from Asia overall had ambitions to contextualise and nuance international scholarship on youth climate activism. This was ac
BACKGROUND: Platelet transfusions are frequent in the Intensive Care Unit (ICU), either as prophylaxis against bleeding complications or as treatment for bleeding. The European Society of Intensive Care Medicine guidelines for ICU patients generally recommend not using prophylactic platelet transfusions unless the platelet count falls below 10 × 10 9 cells/L in non-bleeding patients and make no re
Background: Guidance on managing acute mesenteric ischaemia (AMI) is largely based on expert opinion and retrospective studies pooling different subtypes of AMI. In clinical practice, management strategy is often selected based on the patient’s severity of illness, whereas randomized controlled trials or even adjusted analyses comparing different strategies are rarely available. We aimed to perfor
Circuits of multiple deterministically positioned semiconductor nanowires (NWs) is the basis of many devices for photonic, quantum, or conventional transistor applications. To explore and iterate on the design of larger circuits, the means to quickly place and electrically evaluate NWs at target locations must be developed. We propose and demonstrate a multi-NW circuit building concept on SiO2/Si
AI cancer detection models require calibration to attain the desired balance between cancer detection rate (CDR) and false positive rate. In this study, we simulate the impact of six types of mismatches between the calibration population and the clinical target population, by creating purposefully non-representative datasets to calibrate AI for clinical settings. Mismatching the acquisition year b
In mantle cell lymphoma, early progression of disease has been associated with short overall survival. The impact of clinical, pathological, and treatment strategies on the risk of early relapse has not been assessed in a large cohort of patients. We performed a pooled analysis of patients recruited in France from six randomized first-line MCL trials. Among 1386 treated MCL patients, 1280 were eva
Background: As the survival rate of preterm infants continues to rise worldwide, more infants are at risk of developing sight-threatening retinopathy of prematurity (ROP). Destructive retinal laser treatment and intravitreal injections of anti-vascular endothelial growth factor (VEGF), factor, which have potential systemic side effects, are necessary to prevent blindness in severe cases of ROP. Of
Avoiding severe global warming requires large-scale removals of atmospheric carbon dioxide. Forest regeneration offers cost-effective carbon removals, but annual rates vary substantially by location and forest age. Here we generate grid-level (~1-km2) growth curves for aboveground live carbon in naturally regrowing forests by combining 109,708 field estimates with 66 environmental covariates. Acro
One of the most challenging problems in paleoclimate research is how orbital cyclicities forced Earth’s climate variations during the late Quaternary. To address this issue, we investigated the differences in silicate weathering, a sensitive climate indicator, at different latitudes on orbital timescales by examining geochemical and clay mineral data from the mid-latitude Sea of Okhotsk and integr
Hematopoietic stem cell (HSC) transplantation offers a cure for a variety of blood disorders, predominantly affecting the elderly; however, its application, especially in this demographic, is limited by treatment toxicity. In response, we employ a murine transplantation model based on low-intensity conditioning protocols using antibody-mediated HSC depletion. While aging presents a significant bar
High levels of circulating angiotensin converting enzyme 2 (ACE2) are associated with several chronic diseases and mortality risk. Less is known about the prognostic value of ACE2 in patients with sepsis. In the present study, we aimed to investigate the association between plasma ACE2 levels on admission to the ED and 28-day mortality, organ failure, and level of care in a prospectively recruited
Alterations in mitochondrial metabolism in obesity may indicate disrupted communication between mitochondria and nucleus, and DNA methylation may influence this interplay. Here, we leverage data from the Finnish Twin Cohort study subcohort (n = 173; 86 full twin pairs, 1 singleton), including comprehensive measurements of obesity-related outcomes, mitochondrial DNA quantity and nuclear DNA methyla
Soil quality is fundamental to nutrient-rich food production and the sustainability of terrestrial ecosystems. However, inappropriate agricultural practices often lead to persistent soil exposure to air and sunlight, which increases soil organic matter losses and erosion risks, particularly under climate extremes. Here, we provide a satellite-based mapping of daily soil exposure occurrence across
Previous findings on results of treatment of aggression in violent offenders show inconsistent results, and implementations of such treatments have demonstrated varying success with sometimes marginal gains in forensic settings. New methods, incorporating virtual reality as a tool for experiential learning, have been put forward yet require deepened investigations concerning both treatment content
Environmental communication often abstains from irony because of the perceived negative effects on audiences. However, these views are increasingly challenged, and the frivolous term “bad environmentalism” has been adopted to question the prevailing conceptions of irony as unsuitable for environmental communication. Yet, little is known about this affective genre. Additionally, existing studies of
