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Manifestations of X-linked pyruvate dehydrogenase complex deficiency in female PDHA1 carriers

Background and purpose: Pyruvate dehydrogenase complex deficiency is in up to 90% caused by pathogenic variants in the X-linked PDHA1 gene. We aimed to investigate female relatives of index patients with PDHA1-related disease to (i) describe the prevalence of female PDHA1 carriers, (ii) determine whether they had symptoms and signs, and (iii) delineate the associated phenotype. Methods: In a natio

The Atomic Future : Technology, Labor and World Peace in the Thought of ʿAli Rashid Shaʿath

In 1946, one year after the atomic bombings of Japan, Palestinian thinker ʿAli Rashid Shaʿath (1908–1967) published a book entitled Min al-binsilin ila al-qunbula al-zarriya (From Penicillin to the Atomic Bomb). An accessible work of popular science, it con- tains highly optimistic reflections on the future and predicts the following two events as a result of nuclear technology and energy: a worke

Galactoseismology in cosmological simulations Vertical perturbations by dark matter, satellite galaxies, and gas

Context. Complex models recently became available for studying the dynamics of disk galaxies such as the Milky Way (MW). These models include the global dynamics from dwarf satellite galaxies, dark matter halo structure, gas infall, and stellar disks in a cosmological context. Aims. We use a MW model from a suite of high-resolution hydrodynamical cosmological simulations named GARROTXA to establis

SreC-dependent adaption to host iron environments regulates the transition of trophic stages and developmental processes of Curvularia lunata

Plant pathogens are challenged by host-derived iron starvation or excess during infection, but the mechanism of plant pathogens rapidly adapting to the dynamic host iron environments to assimilate iron for invasion and colonization remains largely unexplored. Here, we found that the GATA transcription factor SreC in Curvularia lunata is required for virulence and adaption to the host iron excess e

The need for nonuniform risk acceptability across climate change scenarios

Climate change risk assessment studies focus on identifying and analyzing different risks considering several climate change scenarios and on evaluating the cost-effectiveness of different adaptation measures. However, risk acceptability is often not reflected on in the context of climate change risk studies. Noting that the different climate change scenarios depict drastically contrasting images

Pediatric Intensive Care from the Perspective of Parents: Experiences and Satisfaction with Person- and Family-Centered Care

The overall aim of this thesis was to investigate parents’ experiences and satisfaction with family-centered care (FCC)when their child was cared for at a pediatric intensive care unit (PICU). To obtain a deeper understanding of parents’experiences and satisfaction, two qualitative studies were conducted (Papers I and III). For Paper I, 10 individualinterviews were conducted two years after their

Scheduling of Industrial Control Traffic for Dynamic RAN Slicing with Distributed Massive MIMO †

Industry 4.0, with its focus on flexibility and customizability, is pushing in the direction of wireless communication in future smart factories, in particular, massive multiple-input-multiple-output (MIMO) and its future evolution of large intelligent surfaces (LIS), which provide more reliable channel quality than previous technologies. At the same time, network slicing in 5G and beyond systems

Symbolic neural networks for automated covariate modeling in a mixed-effects framework

Mixed-effects models are used to describe the inter-patient variability in drugs. Modeling of these variabilities include both fixed and random effects. Fixed effects relate covariates such as age and weight to compartment volumes and clearances, whereas random effects account for unexplained variability. Traditionally, the development of fixed effects models is an inefficient process where covari

Imlifidase in kidney transplantation

Kidney transplantation, the gold-standard therapeutic approach for patients with end-stage kidney disease, offers improvement in patient survival and quality of life. However, broad sensitization against human leukocyte antigens often resulting in a positive crossmatch against the patient’s living donor or the majority of potential deceased donors in the allocation system represents a major obstac

Patterns of genetic variation and local adaptation of a native herbivore to a lethal invasive plant

Understanding the evolutionary processes that influence fitness is critical to predicting species' responses to selection. Interactions among evolutionary processes including gene flow, drift and the strength of selection can lead to either local adaptation or maladaptation, especially in heterogenous landscapes. Populations experiencing novel environments or resources are ideal for understanding

Evaluating person-centered care in neurological outpatient care : a mixed-methods content validity study

Background: Person-centered care (PCC) is gaining increased attention. PCC concerns the whole person behind the disease and can improve care for people with long-term conditions such as multiple sclerosis (MS) and Parkinson’s disease (PD). However, there is a lack of tools to assess PCC from the patients’ perspective, particularly in outpatient care. The Person-Centered Care instrument for outpati

Sustainable and Resilient Land Use Planning : A Multi-Objective Optimization Approach

Land use allocation (LUA) is of prime importance for the development of urban sustainability and resilience. Since the process of planning and managing land use requires balancing different conflicting social, economic, and environmental factors, it has become a complex and significant issue in urban planning worldwide. LUA is usually regarded as a spatial multi-objective optimization (MOO) proble

Digital breast tomosynthesis in mammographic screening : false negative cancer cases in the To-Be 1 trial

Objectives: The randomized controlled trial comparing digital breast tomosynthesis and synthetic 2D mammograms (DBT + SM) versus digital mammography (DM) (the To-Be 1 trial), 2016–2017, did not result in higher cancer detection for DBT + SM. We aimed to determine if negative cases prior to interval and consecutive screen-detected cancers from DBT + SM were due to interpretive error. Methods: Five

Caring for co- : with knitting practices

This conference presentation address research processes that discusses materiality of artistic practice and its implications. Taking point of departure in the making of a physical artefact, the proposal considers the interplay between making and thinking, encompassing both the human and the non-human, resulting in co-constructed knowledge and meaning through performative and textile practices. Dr

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KNYTTE BÅND was a participatory project that included three one week-long workshops at the Danish primary schools Baunehøjskolen, Absalonsskolen and Treksonerskolen where 550 children participated. At each school, the children from the middle school (4th, 5th and 6th grade) co-created one knotted textile-work. At the SWOP festival we then collected the three knotted textile-works and during the fe