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SAMD9 and SAMD9L are two interferon-regulated genes located adjacent to each other on chromosome 7q21.2. Germline gain-of-function (GL GOF) mutations in SAMD9/SAMD9L are the genetic cause of MIRAGE syndrome, ataxia-pancytopenia (ATXPC) syndrome, myeloid leukemia syndrome with monosomy 7 (MLSM7), refractory cytopenia of childhood (RCC), transient monosomy 7 in children, SAMD9L-associated autoinflam
We report the real-valued static and complex-valued quasi-static anisotropic permittivity parameters of rare-earth scandate orthorhombic single crystal GdScO3 (GSO), TbScO3 (TSO), and DyScO3 (DSO). Employing continuous-wave terahertz spectroscopy (0.2-1 THz), the complex permittivity was extracted using an anisotropic ambient-film-ambient model. Data obtained from multiple samples of the same oxid
The use of digital technologies to deliver primary health care has increased over the past decade. While some technologies have been shown to be medically effective and efficient, the effects of digital primary care on the policy goal of equality in the use of such types of care have not been studied using large register data. The aim of this study was to analyse how digital contacts differ from o
The Deliblato (Banat) Sand Sea, which is one of the largest areas of aeolian sand in Europe, is located near the Iron Gate, which marks the crossing of the Danube River through the biggest gorge of this river. Here, Danubian alluvium has served as the sand source for the Banat Sand Sea, which was formed primarily through southeasterly (Košava) winds. Utilizing a multi-proxy approach, the objective
Kinetic thermal degradation models are vital components for optimization of food and bioproducts processing. Typically, models are fitted to laboratory-scale experiments where vials are heated and held. However, these conditions are highly dissimilar from the thermal processes experienced in industrial production. Whereas fitting kinetic data to industrial-scale production is often impossible due
Background: Existing research shows that older people with severe mental health problems need different forms of support in daily life and in the community to lead an active and meaningful life. A common form of support for people with severe mental health problems in Sweden is attendance at community-based day centres (DCs). However, knowledge of staff and managers’ experiences of how people agei
Wurtzite-type aluminum nitride (AlN) thin films exhibiting high thermal conductivity, large grain size, and low surface roughness are desired for both bulk acoustic wave and surface acoustic wave resonators. In this work, we use ammonia (NH3) assisted reactive sputter deposition of AlN to significantly improve these properties. The study shows a systematic change in the structural, thermal, and mo
BACKGROUND: Clonal hematopoiesis of indeterminate potential (CHIP), a common age-associated phenomenon, associates with increased risk of both hematological malignancy and cardiovascular disease. Although CHIP is known to increase the risk of myocardial infarction and heart failure, the influence of CHIP in cardiac arrhythmias, such as atrial fibrillation (AF), is less explored. METHODS: CHIP prev
In this chapter we present a non-destructive method for characterizing buried interfaces with high depth resolution combining X-rays standing wave and photoemission electron spectroscopy. This method incorporates the power of the X-rays photoelectron spectroscopy, which is a surface sensitive technique in the nanometer and sub-nanometer regime, with the depth selectivity of X-ray standing wave. Th
RNA therapeutics is a new class of targeted therapies that has entered the clinic in the last decade. Lipid nanoparticles (LNPs) and conjugation to N-acetylgalactosamine have proven to be efficient strategies to deliver RNA payload to the liver. Successful delivery of sensitive RNA molecules to other target tissues or tumors remains one of the key challenges with the development of new RNA-based t
Background: Photon-counting computed tomography (PCCT) is a new clinical method that may show better diagnostic quality at lower radiation doses than conventional CT. Objective: To investigate the diagnostic quality and radiation dose of paediatric cardiovascular PCCT for diagnosis of congenital heart defects at 70 kV and 90 kV. Materials and methods: This retrospective assessment included clinica
The term “Holocene temperature conundrum” refers to the inconsistencies between proxy-based reconstructions and transient model simulations, and it challenges our understanding of global temperature evolution during the Holocene. Climate reconstructions indicate a cooling trend following the Holocene Thermal Maximum, while model simulations indicate a consistent warming trend due to ice-sheet retr
SiC fibre reinforced metal matrix composites find widespread application but show major machining difficulties due to significant variations in constituents' properties. In this sense, while the SiC fibre plays significant strengthening effects, the properties mismatch between the brittle fibre and ductile matrix materials becomes important in their machining performance. Through machining tests,
Objective: To screen a general pediatric population for type 1 diabetes (T1D), celiac disease (CD), and autoimmune thyroid disease (AITD) after home capillary sampling. Methods: Swedish schoolchildren between 6–9 years and 13–16 years of age were invited to screening by taking a capillary sample at home. Samples were returned by mail and assessed for autoantibodies associated with T1D, CD, and AIT
Motivated by the analysis of the tunneling effect for the magnetic Laplacian, we introduce an abstract framework for the spectral reduction of a self-adjoint operator to a hermitian matrix. We illustrate this framework by three applications, firstly the electro-magnetic Laplacian with constant magnetic field and three equidistant potential wells, secondly a pure constant magnetic field and Neumann
A cubic DNA nanocage probe is able to enter EVs derived from MDA-MB-231 cells and react with miRNA-10b. The probe-loaded EVs were employed to monitor the process of entry of miRNA-10b into MCF-10A cells, allowing visualization of EV-mediated intercellular communication of miRNA-10b between the cancer cells.
The ribosome is an essential drug target as many classes of clinically important antibiotics bind and inhibit its functional centers. The catalytic peptidyl transferase center (PTC) is targeted by the broadest array of inhibitors belonging to several chemical classes. One of the most abundant and clinically prevalent mechanisms of resistance to PTC-acting drugs is C8-methylation of the universally
Boken är en syntes av Osmanska rikets historia från 1200-talet till 1900-talet.
