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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
Background: Epidemiological evidence on weight change and atrial fibrillation (AF) remains limited and inconsistent. Previous studies on body mass index (BMI) in youth and AF rarely considered subsequent BMI. This study aimed to assess the associations of AF with weight change and BMI in youth, as well as modified effect by genetic susceptibility of AF. Methods: The study included 21,761 individua
BACKGROUND: Perceived occupational value is closely linked with well-being and there is need worldwide for assessment tools that target this phenomenon. The Occupational Value with pre-defined items (OVal-pd), measuring three dimensions of occupational value; concrete, socio-symbolic and self-rewarding, was designed for that purpose.AIM: To pilot an Arabic version of OVal-pd and evaluate its psych
The intricate composition, heterogeneity, and hierarchical organization of the human bone marrow hematopoietic microenvironment (HME) present challenges for experimentation, which is primarily due to the scarcity of HME-forming cells, notably bone marrow stromal cells (BMSCs). The limited understanding of non-hematopoietic cell phenotypes complicates the unraveling of the HME's intricacies and nec
The interplay between superconductivity and the Kondo effect has stimulated significant interest in condensed matter physics. They compete when their critical temperatures are close and can give rise to a quantum phase transition that can mimic Majorana zero modes. Here, we have fabricated and measured Al-InSb nanowire quantum dot-Al devices. In the Kondo regime, a supercurrent-induced zero-bias c
Advancements in light engineering have led to the creation of pulsed laser sources capable of delivering high-repetition-rate, high-power few-cycle laser pulses across a wide spectral range, enabling exploration of many fascinating nonlinear processes occurring in all states of matter. High-harmonic generation, one such process, which converts the low-frequency photons of the driver laser field in
Time to AIDS infection is longer with HIV-2, compared to HIV-1, but without antiretroviral therapy both infections will cause AIDS-related mortality. In HIV-2 infection, monitoring of antiretroviral treatment (ART) efficacy is challenging since a large proportion of HIV-2-infected individuals displays low or undetectable plasma RNA levels. Hence, quantification of cellular DNA load may constitute
The co-disposal of solid waste by industrial kilns is presently attracting increasing attention. In this study, we investigate the co-disposal of solid waste, i.e. converter ash (CA), sintered ash (SA), blast furnace bag ash (BA), and municipal solid waste incineration fly ash (MSWIFA), under simulated blast furnace ironmaking conditions. The results show that it is feasible to use blast furnace t
Effect of tempering temperature on the composition of the passive film of a martensitic tool alloy was studied by synchrotron-based hard/soft X-ray photoelectron spectroscopy and electrochemical analyses. The contents of Cr and Mo in the passive film are affected by precipitation of tempering carbides. Increase of tempering temperature from 200 to 525°C leads to enhanced formation of Cr/Mo-rich te
Purpose (the aim of the study): There is limited evidence on psychometric properties of EQ-5D-5L among people with osteoarthritis (OA) undertaking non-surgical treatment. The aim of the current study was to evaluate the psychometric properties of the EQ-5D-5L among individuals with knee or hip OA participating in a digitally delivered education and exercise therapy.Methods: Secondary analysis of d
Purpose: The aim of the study was to assess associations between intake of combined soft drinks (sugar sweetened and artificially sweetened) and fruit and vegetable juices and the risk of hepatocellular carcinoma (HCC), intrahepatic bile duct (IHBC) and biliary tract cancers (GBTC) using data from the European Prospective Investigation into Cancer and Nutrition cohort of 477,206 participants from
AIM: To describe sociodemographic disparities in temporal trends of incidence and age distributions of first registered osteoarthritis (OA) diagnosis in southern Sweden.METHODS: We identified all Skåne residents aged 35+ who had lived in the region at any point during the period 2006-2019 with no previous OA diagnosis (ICD-10 codes M15-M19) for 8 years prior to inclusion in the study (n = 849,061)
BACKGROUND AND OBJECTIVES: Cerebral small vessel disease (CSVD) is associated to cognitive decline and dementia. Neuroimaging changes of CSVD are highly prevalent above 80 years. Only few studies report on incidence of CSVD in high age. We have investigated the incidence and prevalence of magnetic resonance imaging (MRI) markers of CSVD and risk factors in the general older population.METHODS: As
Non-volatile cryogenic memories are crucial for realizing energy-efficient and scaled quantum computing systems. In this letter, we evaluate the cryogenic performance of an HZO-based ferroelectric capacitor (FeCAP) with a compound semiconductor (InAs) as the bottom electrode. We demonstrate that near identical remnant polarization can be obtained at 14 K compared to room temperature by increasing
Background: About one in ten adults are living with diabetes worldwide. Intake of carbohydrates and carbohydrate-rich foods are often identified as modifiable risk factors for incident type 2 diabetes. However, strong correlation between food variables can make it difficult to identify true associations. The purpose of this study was to identify clusters of carbohydrate-rich foods and analyse thei
Background: Androgen deprivation therapy is the cornerstone of treatment for patients with advanced prostate cancer. Meta-analysis of small, oncology-focused trials suggest gonadotropin-releasing hormone (GnRH) antagonists may be associated with fewer adverse cardiovascular outcomes compared with GnRH agonists. Objectives: This study sought to determine whether GnRH antagonists were associated wit
The exceptional polymorphism observed within genes of the major histocompatibility complex (MHC), a core component of the vertebrate immune system, has long fascinated biologists. The highly polymorphic classical MHC class-I (MHC-I) genes are maintained by pathogen-mediated balancing selection (PMBS), as shown by many sites subject to positive selection, while the more monomorphic non-classical MH
Metal cutting technology plays an important role in the automotive and aeronautic sectors, both of whichare important for the Swedish economy. Both make use of traditional grey cast iron and difficult-to-machine materials like titanium alloys and compacted graphite iron. The tools used to machine thesematerials wear at varying rates depending on factors such as contact temperature, pressure, and t
