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BACKGROUND: Hemophilia A and B are caused by variants in the factor (F) VIII or FIX gene. Selective reporting may influence the distribution of variants reported in genetic databases.OBJECTIVES: To compare the spectrum of F8 and F9 variants in an international population-based pediatric cohort (PedNet Registry) with the spectrum found in the European Association for Haemophilia and Allied Disord

High energy collisions at the High-Luminosity Large Hadron Collider (LHC) produce a large number of particles along the beam collision axis, outside of the acceptance of existing LHC experiments. The proposed Forward Physics Facility (FPF), to be located several hundred meters from the ATLAS interaction point and shielded by concrete and rock, will host a suite of experiments to probe standard mod

Context. Stellar granulation generates fluctuations in photometric and spectroscopic data whose properties depend on the stellar type, composition, and evolutionary state. Characterizing granulation is key for understanding stellar atmospheres and detecting planets. Aims. We aim to detect the signatures of stellar granulation, link spectroscopic and photometric signatures of convection for main-se

FPGAs play an increasing role in the reconfgurable accelerator landscape. A key challenge in designing FPGA-based systems is partitioning computation between processor cores and FPGAs. An appropriate division of labor is difcult to predict in advance and requires experiments and measurements. When an investigation requires rewriting part of the system in a new language or with a new programming mo

Stream processing applications are naturally described as dataflow programs. Dataflow programs modelled as actor networks are well suited to describe concurrent and computationally intensive problems. Realistic dataflow programs are typically characterized by highly dynamic behaviour, limiting the applicability of static analysis techniques. In this work we explore using dynamic analyses of datafl

Unilateral retinitis pigmentosa (URP) is a rare retinal dystrophy. We describe the clinical course of two patients with (URP) unilateral retinitis pigmentosa confirmed by genetic testing, indicating ciliary dysfunction. Methods: The methods used in this study included a detailed ophthalmic examination, multimodal retinal imaging, Goldmann visual fields, full-field electroretinography (ffERG) and t

Antigens of the remaining 35 blood group systems are carried by glycoproteins. This chapter addresses only those antigens that elicit formation of clinically significant antibodies while briefly commenting on the other blood group systems. The most commonly encountered antibodies are directed against the M, N, S, and s antigens. The Lutheran blood group system contains multiple antigens; however,

As versatile compounds forming host-guest complexes with a wide variety of hydrophobic molecules, cyclodextrins are widespread candidates to confer functionalities to surfaces, particularly for drug delivery applications in the field of biomaterials, and for analytic or preparative purposes in separative sciences. We report here on Layer-by-Layer coatings used to decorate surfaces with β-cyclodext

Focusing on the photoinduced electron transfer properties of the D-D-A molecule ((TPA-TT)-BODIPY-C60) in an external electric field (Fext), the excited-state properties in which the double-donor molecule is excited to form three charge-separated states were simulated. The charge-Transfer processes of these three charge-separated states were investigated by considering the two donors as a whole ((T

Interstitial lung diseases such as idiopathic pulmonary fibrosis (IPF) are caused by persistent micro-injuries to alveolar epithelial tissues accompanied by aberrant repair processes. IPF is currently treated with pirfenidone and nintedanib, compounds which slow the rate of disease progression but fail to target underlying pathophysiological mechanisms. The DNA repair protein 8-oxoguanine DNA glyc

Intramolecular hydrogen transfer, a reaction where donor and acceptor sites of a hydrogen atom are part of the same molecule, is a ubiquitous reaction in biochemistry and organic synthesis. In this work, we report hydronium ion (H3O+) production from aminobenzoic acid (ABA) after core-level ionization with soft X-ray synchrotron radiation. The formation of H3O+ during the fragmentation requires th

Purpose: Dichotic speech tests are commonly used in audiological assessments of children with suspected listening difficulties, which may have a range of origins. In Sweden, today, one in four primary schoolchildren has a foreign background, which means that a large proportion of children will be assessed through the medium of a language that they speak at school, but it is not the language they r

The high performance of platinum-Tin catalysts for oxidation reactions has been linked to the formation of tin oxides at the metal surface, but little is known about the structure of these oxides or the chemical behavior that determines their catalytic properties. We show here how surface oxides on Pt3Sn(111) incorporate oxygen at the metal interface, which may be subsequently removed by reaction

I argue that there can be value relations without individual values to support them. The fact that an item is better than another item does not have to be explained by reference to the values of the individual items. Instead, value relations can be grounded directly and exhaustively in descriptive facts about their relata. I show that my suggestion fits well with plausible perspectives on the natu

Dan Egonsson, Björn Petersson, and Toni Rønnow-Rasmussen have been instrumental in shaping the Swedish philosophical community over the last thirty years, particularly in the field of ethics. Through their research, teaching, and guidance of the next generation of philosophers, they have made invaluable contributions to the Department of Philosophy at Lund University. This festschrift, which celeb

This computational study investigates the energy minimum, that is, ground state, of suspensions of monodisperse (single-component) charged linear rods at various densities and screening lengths. We find that closed-packed unidirectional configurations have the lowest energies for all studied cases. We further specify the lattice parameters for these crystalline structures. In addition, we identify

Air pollution research has been conducted in Europe and North America as well as in Asia and South America for decades, but there has, so far, only been a limited amount of studies on air pollution and its health effects conducted in Africa. Until recently, global inventories of pollutants from North America Europe and Asia have been used for air quality and climate change modelling in Africa (Bon

Objective: The association between knee injury and knee osteoarthritis (OA) is understudied relative to its importance, particularly in younger populations. This study was undertaken to examine the association of knee injury with radiographic features of knee OA in military officers, who have a physically demanding profession and high rates of knee injury. Methods: Participants were recruited in 2

Raimo Tuomela’s we-mode groups are partly characterized by norms. Some norms may be characteristic of all we-mode groups, like the norm restricting a member's right to leave the group. Some think that this aspect of Tuomela’s theory has implausible ethical implications concerning the rights and autonomy of members in we-mode groups. That worry vanishes, I argue, on a plausible interpretation of Tu