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The IVIG treatment response in autoimmune polyendocrine syndromes type 2 with anti-GAD65 antibody-associated stiff person syndrome: a case report and literature review.
Front Immunol
January 2025
Department of Neurology, The First Affiliated Hospital of Anhui University of Traditional, Chinese Medicine, Hefei, Anhui, China.
Autoimmune polyendocrine syndromes (APS) is a rare group of disorders caused by impaired function of multiple endocrine glands due to disruption of immune tolerance. Of which, type 2 (APS-2) is the most common. Glutamic acid decarboxylase (GAD) is the rate-limiting enzyme for the synthesis of gamma-aminobutyric acid (GABA).
View Article and Find Full Text PDFActive withdrawal of corticosteroids using tocilizumab and its association with autoantibody profiles in relapsed Takayasu arteritis: a multicentre, single-arm, prospective study (the Ab-TAK study).
Front Immunol
January 2025
Department of Clinical Rheumatology, Tohoku University Graduate School of Medicine, Sendai, Japan.
Objectives: The feasibility of corticosteroid withdrawal (CW) for Takayasu arteritis (TAK) remains uncertain. Two autoantibodies (Abs) are identified against endothelial protein C receptor (EPCR) and scavenger receptor class B type 1 (SR-BI) in TAK, determining its three subgroups. This study aimed to evaluate CW using tocilizumab (TCZ) and its association with the Ab profile.
View Article and Find Full Text PDFAnalytical validation of a novel bioassay for thyroid-stimulating immunoglobulin.
Front Endocrinol (Lausanne)
January 2025
Molecular Thyroid Research Laboratory, Department of Medicine I, Johannes Gutenberg University (JGU) Medical Center, Mainz, Germany.
Background: A novel and rapid cell-based bioassay, Turbo TSI, for measurement of thyroid-stimulating immunoglobulins (TSI) was recently reported. An assessment of the analytical performance of this TSI bioassay is described herein.
Methods: Thawed cells from Turbo TSI kits were treated with different concentrations of a World Health Organization (WHO) international standard (IS) TSI-positive serum.
Meeting report - Alpine desmosome disease meeting 2024: advances and emerging topics in desmosomes and related diseases.
J Cell Sci
January 2025
Institute of Anatomy and Experimental Morphology, Center for Experimental Medicine, University Cancer Center Hamburg, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
Desmosomes are adhesive cell contacts abundant in tissues exposed to mechanical strain, such as the stratified and simple epithelia of the epidermis and mucous membranes, as well as the myocardium. Besides their role in mechanical cell cohesion, desmosomes also modulate pathways important for tissue differentiation, wound healing and immune responses. Dysfunctional desmosomes, resulting from pathogenic variants in genes encoding desmosomal components, autoantibodies targeting desmosomal adhesion molecules or inflammation, cause the life-threatening diseases arrhythmogenic cardiomyopathy and pemphigus and contribute to the pathogenesis of inflammatory bowel diseases.
View Article and Find Full Text PDFA New Mechanism of Supraventricular Tachycardia: Gene Mutation.
Curr Cardiol Rev
January 2025
Department of Cardiology, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, Sichuan, China.
Background: Supraventricular tachycardia (SVT) is very common in daily clinical practice, especially in the emergency department, with rapid onset and urgent management. The review highlights the recent genetic predispositions and mechanisms in SVT.
Methods: Through analysis of epidemiology, familial clustering, and gene mutations of the relevant literatureļ¼the review elucidates the genetic properties and potential pathophysiology of SVT.
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