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Complement-mediated kidney diseases are ultrarare conditions characterized by excess complement activation related in most cases to complement gene variants or circulating autoantibodies. These conditions are chronic and can lead to kidney failure. They include atypical hemolytic uremic syndrome (aHUS), C3 glomeru-lopathy (C3G), and, to a certain extent, immune complex-membranoproliferative glomer
RNA binding motif protein X‐linked (RBMX) encodes the heterogeneous nuclear ribonucleoprotein G (hnRNP G) that regulates splicing, sister chromatid cohesion and genome stability. RBMX knock down experiments in various model organisms highlight the gene’s importance for brain development. Deletion of the RGG/RG motif in hnRNP G has previously been associated with Shashi syndrome, however involvemen
Blixtar. Svarta prickar, spindelben och dimmoln. Rörliga grumlingar framför ögat och liknade symptom drabbar varje dag många svenskar. Oftast är symptomen helt ofarliga men de kan också tyda på begynnande näthinneavlossning, vilket i värsta fall kan leda till blindhet.Näthinneavlossning börjar i de flesta fall med en s.k glaskroppsavlossning. Detta tillstånd innebär att glaskroppen, den geléartadeBlindness and visual disability are common following vitreoretinal pathologies such as open globe injury, proliferative diabetic retinopathy, and rhegmatogenous retinal detachment (RRD). These conditions often necessitate surgical intervention using vitrectomy with a tamponading vitreous substitute. However, current tamponades are all associated with complications such as inflammation, cataract, g
Background: Portal vein occlusion (PVO) is an established method to increase the volume of the future liver remnant (FLR). The main reasons for not proceeding to radical hepatectomy are lack of volume increase and tumor progression due to a wait-time interval of up to 8 weeks. The hypothesis was that the increase in FLR volume is not linear and is largest during the first weeks. Methods: Patients
OBJECTIVE: To assess the impact of the bidirectional cavopulmonary shunt, total cavopulmonary connection, and baffle fenestration on outcome of the Fontan operation in our unit.METHOD: We reviewed 123 bidirectional cavopulmonary shunts and 264 Fontan operations performed from 1980 to 1995. Analysis of pulmonary artery size (right and left main and lower lobe branches) before and after bidirectiona
Finnish samples have been extensively utilized in studying single-gene disorders, where the founder effect has clearly aided in discovery, and more recently in genome-wide association studies of complex traits, where the founder effect has had less obvious impacts. As the field starts to explore rare variants' contribution to polygenic traits, it is of great importance to characterize and confirm
BACKGROUND: Quantitative assessment of right ventricular (RV) function is important for the management of patients with congenital heart disease. Tissue Doppler (TDI)-derived myocardial acceleration during isovolumic contraction (IVA) is an echocardiographic measure of contractility that is independent of loading conditions. The aim of this study was to establish normative data for IVA at the late
The immune responses to antigens from different stages of the Epstein–Barr virus (EBV) life cycle were investigated in systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), Sjögren’s syndrome (SS), and systemic sclerosis (SSc) to gain knowledge of EBV’s involvement in the etiology of systemic autoimmune diseases (SADs) and for an overview of the humoral immune responses against EBV. Inves
Several regulatory peptides, including neuropeptide Y, can release histamine from mast cells. In the present study we investigated which parts of the neuropeptide Y molecule are required to evoke the release of histamine from isolated rat peritoneal mast cells. In addition, we examined whether the histamine release evoked by neuropeptide Y (and by compound 48/80) is sensitive to the G protein inhi
BACKGROUND: Owing to the wide spread perception of a possible benefit from paclitaxel in the second-line situation the Nordic Gynecologic Oncology Group (NGOG) conducted two prospective phase II studies of paclitaxel single agent treatment (175 mg/m2, three-hour i.v. infusion with standard pre-medication every third week) in patients with relapsing or progressing epithelial ovarian cancer followin
Patients with colorectal liver metastases (CRLM) increasingly undergo liver resections. The belief is that the resection or ablation of a tumor, when possible, is the only possibility of a cure. The classical strategy is where the primary colorectal tumor is resected as the first intervention, followed by resection of the liver metastasis at a second stage. The liver-first strategy is where preope
A steady increase in the incidence of osteoarthritis and other rheumatic diseases has been observed in recent decades, including autoimmune conditions such as rheumatoid arthritis, spondyloarthropathies, systemic lupus erythematosus, systemic sclerosis, and Sjögren's syndrome. Rheumatic and autoimmune diseases (RADs) are characterized by the inflammation of joints, muscles, or other connective tis
The motor effects of gamma-aminobutyric acid (GABA) on the bovine ovarian follicle were studied in vitro using strips from follicle walls. Electrical field stimulation of nerves in the preparation, secured by tetrodotoxin blockade, caused a contraction that was almost totally abolished by phentolamine and only slightly affected by atropine. This mainly adrenergic neurogenic response was inhibited
We have recently completed the largest GWAS on lung cancer including 29,266 cases and 56,450 controls of European descent. The goal of our study has been to integrate the complete GWAS results with a large-scale expression quantitative trait loci (eQTL) mapping study in human lung tissues (n = 1,038) to identify candidate causal genes for lung cancer. We performed transcriptome-wide association st
Background: The additional value of including segment 4 (S4) portal branches in right portal vein embolization (rPVE) is debated. The aim of the study was to explore this in a large multicenter cohort. Material and methods: A retrospective cohort study consisting of all patients subjected to rPVE from August 2012 to May 2017 at six Scandinavian university hospitals. PVE technique was essentially t
A growing body of evidence suggests a relationship between oxidative stress and β-amyloid (Aβ) peptide accumulation, a hall-mark in the pathogenesis of Alzheimer's disease (AD). However, a direct causal relationship between oxidative stress and Aβ pathology has not been established in vivo. Therefore, we crossed mice with a knockout of one allele of manganese superoxide dismutase (MnSOD), a critic
Introduction: In sports physiotherapy, medicine and orthopaedic randomised controlled trials (RCT), the investigators (and readers) focus on the difference between groups in change scores from baseline to follow-up. Mean score changes are difficult to interpret (is an improvement of 20 units good?'), and follow-up scores may be more meaning
This paper presents the electron and photon energy calibration obtained with the ATLAS detector using about 36 fb -1 of LHC proton-proton collision data recorded at s=13 TeV in 2015 and 2016. The different calibration steps applied to the data and the optimization of the reconstruction of electron and photon energies are discussed. The absolute energy scale is set using a large sample of Z boson d
OBJECTIVE: The purpose of this trial was to determine the spectrum of diseases with fever of unknown origin (FUO) in Turkey.METHODS: A prospective multicenter study of 154 patients with FUO in twelve Turkish tertiary-care hospitals was conducted.RESULTS: The mean age of the patients was 42+/-17 years (range 17-75). Fifty-three (34.4%) had infectious diseases (ID), 47 (30.5%) had non-infectious inf
Chronic inflammation is an HIV infection feature, contributing to elevated risk of cardiovascular disease among people with HIV, which can be induced by viral replication. A proportion of antiretroviral therapy (ART) recipients fail to achieve viral suppression, despite not meeting criteria for treatment failure, so-called low-level viremia (LLV). We investigated the relationship between LLV and a
