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The gene IL6ST encodes GP130, the common signal transducer of the IL-6 cytokine family consisting of 10 cytokines. Previous studies have identified cytokine-selective IL6ST defects that preserve LIF signaling. We describe three unrelated families with at least five affected individuals who presented with lethal Stüve-Wiedemann-like syndrome characterized by skeletal dysplasia and neonatal lung dys
BACKGROUND: Fibroblast growth factor 23 (FGF23), a bone-derived hormone that regulates phosphorus and vitamin D metabolism, contributes to the pathogenesis of mineral and bone disorders in CKD and is an emerging cardiovascular risk factor. Central elements of FGF23 regulation remain incompletely understood; genetic variation may help explain interindividual differences.METHODS: We performed a meta
Background: Oral contraceptive use has been associated with an increase in the risk of breast cancer in young women. We examined whether this association is seen in women at high risk of breast cancer because they carry a mutation in one of two breast cancer susceptibility genes, BRCA1 and BRCA2. Methods: We performed a matched case-control study on 1311 pairs of women with known deleterious BRCA1
The Gaia-ESO Survey was designed to target all major Galactic components (i.e. bulge, thin and thick discs, halo and clusters), with the goal of constraining the chemical and dynamical evolution of the MilkyWay. This paper presents the methodology and considerations that drive the selection of the targeted, allocated and successfully observed Milky Way field stars. The detailed understanding of th
BACKGROUND: Coronary atherosclerosis detected by imaging is a marker of elevated cardiovascular risk. However, imaging involves large resources and exposure to radiation. The aim was, therefore, to test whether nonimaging data, specifically data that can be self-reported, could be used to identify individuals with moderate to severe coronary atherosclerosis.METHODS AND RESULTS: We used data from t
Immune thrombocytopenia (ITP) is an autoimmune disease characterized by an isolated thrombocytopenia and variable phenotype as some patients suffer no bleeding whilst others have bleeding from mild to severe, which may be fatal. This variability probably reflects the disease's complex pathophysiology; a dysregulated hyperreactive immune effector cell response involving the entire adaptive immune s
After a reperfused myocardial infarction (MI), dynamic tissue changes occur (edema, inflammation, microvascular obstruction, hemorrhage, cardiomyocyte necrosis, and ultimately replacement by fibrosis). The extension and magnitude of these changes contribute to long-term prognosis after MI. Cardiac magnetic resonance (CMR) is the gold-standard technique for noninvasive myocardial tissue characteriz
Rationale: Adults may exhibit characteristics of both asthma and chronic obstructive pulmonary disease (COPD), a situation recently described as asthma-COPD overlap (ACO). There is a paucity of information about ACO in primary care. Objectives: To estimate the prevalence and describe characteristics of individuals withACOin primary care practices among patients currently diagnosed with asthma, COP
Our understanding of how class-switch recombination (CSR) to IgA occurs in the gut is still incomplete. Earlier studies have indicated that Tregs are important for IgA CSR and these cells were thought to transform into follicular helper T cells (Tfh), responsible for germinal center formation in the Peyer's patches (PP). Following adoptive transfer of T-cell receptor-transgenic (TCR-Tg) CD4 T cell
Objectives This study aims to describe the data structure and harmonisation process, explore data quality and define characteristics, treatment, and outcomes of patients across six federated antineutrophil cytoplasmic antibody-associated vasculitis (AAV) registries. Methods Through creation of the vasculitis-specific Findable, Accessible, Interoperable, Reusable, VASCulitis ontology, we harmonised
We analysed 68 candidate planetary systems first identified during Campaigns 5 and 6 (C5 and C6) of the NASA K2 mission. We set out to validate these systems by using a suite of follow-up observations, including adaptive optics, speckle imaging, and reconnaissance spectroscopy. The overlap between C5 with C16 and C18, and C6 with C17, yields light curves with long baselines that allow us to measur
There is a close relationship between the SARS-CoV-2 virus and lipoproteins, in particular high-density lipoprotein (HDL). The severity of the coronavirus disease 2019 (COVID-19) is inversely correlated with HDL plasma levels. It is known that the SARS-CoV-2 spike (S) protein binds the HDL particle, probably depleting it of lipids and altering HDL function. Based on neutron reflectometry (NR) and
Galactic haloes in a Λ-CDM universe are predicted to host today a swarm of debris resulting from cannibalized dwarf galaxies. The chemodynamical information recorded in their stellar populations helps elucidate their nature, constraining the assembly history of the Galaxy. Using data from APOGEE and Gaia, we examine the chemical properties of various halo substructures, considering elements that s
Medicinsk rätt är ett brett rättsområde som behandlar juridiska aspekter på medicinsk verksamhet av olika slag. Historiskt har regleringen av medicinsk verksamhet fokuserat på nationella utmaningar. Krig och kriser har blivit viktiga väckarklockor för internationalisering av medicinsk rätt och skapandet av folkrättsliga regler på området. Behovet att skydda skadade personer under krig, liksom medi
BackgroundIbrutinib, a Bruton tyrosine kinase inhibitor, prolongs progression-free survival when added to immunochemotherapy as first line treatment. The ENRICH trial compared the chemotherapy-free combination of ibrutinib and the anti-CD20 antibody rituximab (ibrutinib–rituximab) with standard immunochemotherapy (R-CHOP [rituximab–cyclophosphamide, doxorubicin, vincristine, and prednisolone] or b
Background: The international multi-center randomized controlled STEPCARE-trial will investigate optimal management of sedation, temperature, and mean arterial pressure (MAP) during intensive care in out-of-hospital cardiac arrest (OHCA) patients due to various etiologies. The primary outcome is mortality at 6 months. This protocol describes an extended follow-up sub-study of the STEPCARE-trial wi
In cutaneous T cell lymphomas (CTCL), miR-21 is aberrantly expressed in skin and peripheral blood and displays anti-apoptotic properties in malignant T cells. It is, however, unclear exactly which cells express miR-21 and what mechanisms regulate miR-21. Here, we demonstrate miR-21 expression in situ in both malignant and reactive lymphocytes as well as stromal cells. qRT-PCR analysis of 47 patien
BACKGROUND: In Phase II/III trials, administration of quadrivalent human papillomavirus (HPV) (types 6/11/16/18) L1 virus-like-particle vaccine was highly effective in preventing HPV6/11/16/18-related cervical intraepithelial neoplasia and non-invasive cervical cancer in women aged 16-26 years who were naïve to these HPV types at enrollment. However, the makeup and extent of catch-up vaccination p
Source-separating sanitation systems offer the possibility of recycling nutrients present in wastewater as crop fertilisers. Thereby, they can reduce agriculture's impacts on global sources, sinks, and cycles for nitrogen and phosphorous, as well as their associated environmental costs. However, it has been broadly assumed that people would be reluctant to perform the new sanitation behaviours tha
