Faculty of Medicine, Masaryk University Brno, Czech Republic; Department of Neurology, University Hospital Brno, Czech Republic. Electronic address:
Published: October 2020
AI Article Synopsis
Article Abstract
This contribution reports the case of a young female patient with a cytotoxic T-lymphocyte antigen 4 (CTLA-4) heterozygous missense mutation giving rise to a broad range of autoimmune diseases, including central nervous system inflammation presenting as disseminated intramedullary and infiltrating brain lesions on MRI. Multiple sclerosis was one of the diagnoses considered. CTLA-4 is a negative immune regulator essential for the function of regulatory T-cells, themselves responsible for maintaining self-tolerance and immune homeostasis. Heterozygous germline mutations in CTLA-4 may lead to an autosomal dominant immune dysregulation syndrome with highly variable phenotype, including various immunodeficiency and autoimmune diseases, along with neurological manifestations.
Aim: There remain limited therapies to treat thyroid eye disease (TED) orbital fibrosis, highlighting the urgency to develop novel targets. Transforming growth factor-β1 (TGF-β1)-induced myofibroblast transdifferentiation from orbital fibroblasts are important pathogenetic factor of TED. Endoplasmic reticulum (ER) stress may play a role in TED pathogenesis since it has been linked to liver, kidney, heart and lung fibrotic remodelling.
Division of Arthritis and Rheumatic Diseases, Oregon Health & Science University, Portland, OR, 97239, USA; Rheumatology Section, VA Portland Health Care System, Portland, OR, 97239, USA. Electronic address:
Rheumatoid arthritis (RA) is a chronic autoimmune disorder with a complex pathogenesis that evolves through various stages before clinical symptoms emerge. This review outlines the natural history of RA, starting from genetic predisposition and environmental triggers to preclinical autoimmunity and subsequent joint inflammation. Key genetic factors interact with environmental elements like smoking and infections, producing autoantibodies such as anti-citrullinated protein antibodies (ACPA) and rheumatoid factor, which precede clinical manifestations by several years.
Objective: Recently, three distinct phenotypes of Sjögren's disease (SjD) patients have been described, based on cluster analysis: B-cell active with low symptoms (BALS), high systemic activity (HSA), and low systemic activity with high symptoms (LSAHS). We aimed to assess whether these clusters were associated with distinct biomarkers and the prognostic value of IFN signature.
Methods: The ASSESS cohort is a 20-year prospective cohort of SjD patients.
A 72-year-old male patient presented fatigue, anemia, elevated total protein, IgG, IgG4, IL-6, and vascular endothelial growth factor (VEGF) levels. Initial diagnostics suspected multiple myeloma. A plane computed tomography (CT) scan showed pneumonia and the enlargement of generalized lymph nodes.
Real-world data are a highly valuable resource in determining the efficacy of novel products in challenging populations, especially in wound care. This study retrospectively analyzed the real-world performance of porcine placental extracellular matrix (PPECM; InnovaMatrix® AC, Convatec Triad Life Sciences, LLC, Memphis, TN, USA), a novel cellular, acellular, and matrix-like product for the management of hard-to-heal wounds. The US Wound Registry (USWR), which comprises aggregated and structured electronic health records from 502 wound practices, provided a deidentified dataset collected from October 10, 2022 to March 25, 2024, containing 76,278 patients (248,278 wounds).
