BTKbase is an international database for disease-causing variants in Bruton tyrosine kinase (BTK) leading to X-linked agammaglobulinemia (XLA), a rare primary immunodeficiency of antibody production. BTKbase was established in 1994 as one of the first publicly available variation databases. The number of cases has more than doubled since the last update; it now contains information for 2310 DNA va

Objective This study aimed to investigate whether workplace factors and occupations are associated with SARSCoV-2 infection or severe COVID-19 in the later waves of the pandemic. Methods We studied 552 562 cases with a positive test for SARS-CoV-2 in the Swedish registry of communicable diseases, and 5985 cases with severe COVID-19 based on hospital admissions from October 2020 to December 2021. F

A novel Bifidobacterium strain, Bin7NT, was isolated from the honey stomach of the honey bee Apis mellifera. Cells are Gram-positive, non-motile, non-sporulating, facultative anaerobic and fructose 6-phosphate phosphoketolase-positive. Their optimal growth is at 37 °C in anaerobiosis in MRS (De Man, Rogosa and Sharpe) added with cysteine. The honey bee microbiota was composed of several phylotypes

We discuss the motion of a rectangular camphor boat, considering the position of a camphor pill in relation to the boat's stern as the control parameter. The boat moves because the pill releases surface active molecules that decrease the surface tension and support the motion. We introduce a new experimental system in which the boat rotates on a long arm around the axis located at the centre of a

The optimal selection of characteristic bands and retrieval models for the hyperspectral retrieval of soil heavy metal concentrations poses a significant challenge. Additionally, satellite-based hyperspectral retrieval encounters several issues, including atmospheric effects, limitations in temporal and radiometric resolution, and data acquisition, among others. Given this, the retrieval performan

Increased brain size in humans and other primates is hypothesized to confer cognitive benefits but brings costs associated with growing and maintaining energetically expensive neural tissue. Previous studies have argued that changes in either diet or levels of sociality led to shifts in brain size, but results were equivocal. Here we test these hypotheses using phylogenetic comparative methods des

INTRODUCTION:The Environmental Determinants of Diabetes in the Young study follows an HLA risk selected birth cohort for celiac disease (CD) development using a uniform protocol. Children under investigation come from 6 different regions within Europe and the United States. Our aim was to identify regional differences in CD autoimmunity and CD cumulative incidence for children born between 2004 an

Background: Neonates are an extremely vulnerable patient population, with 6% to 9% admitted to the neonatal intensive care unit (NICU) following birth. Neonates admitted to the NICU will undergo multiple painful procedures per day throughout their stay. There is increasing evidence that frequent and repetitive exposure to painful stimuli is associated with poorer outcomes later in life. To date, a

Background: The emergence of disease-modifying Alzheimer’s (AD) treatments provides new hope to patients and families but concerns have been raised about the preparedness of healthcare systems to provide timely access to such treatments because of a combination of a complex diagnostic process and a large prevalent pool. Objectives: We assess the preparedness of Sweden, a high-income country known

Thus far, most researchers have focused on the cognition of fire use, but few have explored the cognition of firemaking. With this contribution we analyse aspects of the two main hunter-gatherer firemaking techniques - the strike-a-light and the manual fire-drill - in terms of causal, social and prospective reasoning. Based on geographic distribution, archaeological and ethnographic information, a

Cerebral folate transport deficiency, caused by a genetic defect in folate recep-torα, is a devastating neurometabolic disorder that, if untreated, leads to epi-leptic encephalopathy, psychomotor decline and hypomyelination. Currently,there are limited data on effective dosage and duration of treatment, thoughearly diagnosis and therapy with folinic acid appears critical. The aim of thislong-term

Given the increasing prevalence of problematic gaming, in 2013, the diagnosis “Internet gaming disorder (IGD)” was included in the Diagnostic and Statistical Manual of Mental Disorders, 5th edition (DSM-5) as a potential diagnosis. With a new diagnosis, it is important to determine treatment options. The importance of the parent–child relationship has been emphasised in problematic gaming and its

Background: Mitochondrial respiration plays a central role in the survival of many eukaryotes, including apicomplexan parasites. A 479-bp fragment from the mitochondrial cytochrome b gene is widely used as a barcode to identify genetic lineages of avian malaria parasites Plasmodium and related haemosporidians. Here we looked for evidence of selection in the avian Plasmodium cyt b gene, using tests

Genome-wide significant loci for metformin response in type 2 diabetes reported elsewhere have not been repli-cated in the Diabetes Prevention Program (DPP). To as-sess pharmacogenetic interactions in prediabetes, we conducted a genome-wide association study (GWAS) in the DPP. Cox proportional hazards models tested associations with diabetes incidence in the metformin (MET; n = 876) and placebo (P

Synthesis, characterization and catalytic activity of cyclometalated iridium complexes with a bidentate POC ligand is presented. Metalation of POC-H (di-tert-butyl(phenoxy)phosphane) with [Ir(COD)Cl]2 proceeded rapidly at room temperature and afforded mixture of (POC)(POC-H)IrHCl (1 a) and (POC)(COD)IrHCl (1 b), from which complexes (POC)(L)IrHCl where L=PPh3 (1 c), bipyridine (1 d) and [2,2′-bipy

Product repair plays an important role in the realisation of a circular economy (CE) and sustainable consumption, yet little is known about what repair entails for individual product owners or users, particularly in a realised CE. This paper proposes a comprehensive approach by conceptualising repair as a multi-stage, cyclical process, shaped by previous experiences and, in turn, impacting future

This open access edited book investigates European social rights in practice from socio-legal perspectives. It brings together fourteen socio-legal scholars, representing Nordic and Western European countries, who analyse different aspects pertaining to European social rights, namely the regulation of social rights, encounters between welfare professionals and citizens, and citizens’ mobilisation

Objectives: This is a protocol for a Cochrane Review (intervention). The objectives are as follows:. To evaluate the effects of early versus late discontinuation of caffeine administration in preterm infants.

Cancer stem cells (CSCs) are relevant therapeutic targets for cancer treatment. Still, the molecular circuits behind CSC characteristics are not fully understood. The low number of CSCs can sometimes be an obstacle to carrying out assays that explore their properties. Thus, increasing CSC numbers via small molecule-mediated cellular reprogramming appears to be a valid alternative tool. Using the S

Objective: This study was undertaken to develop and characterize a multiplex immunoassay for detection of autoantibodies against peptides derived from proteins known to play a role in development of arthritis and that are also expressed in joints. Methods: We selected peptides from the human counterpart of proteins expressed in the joints, based on mouse models that showed these to be targeted by