We investigated the presence of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Turkish family with recurrent fever and systemic reactive (AA) amyloidosis. A missense mutation in exon 3 of the TNFRSF1A gene, resulting in an amino acid substitution Phe60Leu (F60L) was found in the proband and his father. These are the first confirmed TRAPS cases in the Turkish population. This family highlights the importance of onsidering all the causes of inherited fevers and performing thorough clinical and genetic investigations to secure a diagnosis, even in populations in which familial Mediterranean fever (FMF) is highly prevalent.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Anti-arthritic potential of crude sulfated polysaccharide from marine macroalgae (Turner) C. Agardh: Regulation of cytokine cascade.
Biomol Concepts
January 2025
Division of Pharmacology, School of Medical and Life Sciences, Sunway University, No. 5, Jalan Universiti, Bandar Sunway, 47500 Selangor Darul Ehsan, Malaysia.
Seaweeds have been utilized as food, fodder, fertilizer, and medicine since ancient times; nevertheless, they have received only a little attention. In the current work, we extracted the sulfated polysaccharide from a marine source and investigated its anti-arthritic potential . The isolated and freeze-dried polysaccharide was tested for acute oral toxicity based on OECD 423.
View Article and Find Full Text PDFDiagnostic accuracy of -specific triple-color FluoroSpot assay in differentiating tuberculosis infection status in febrile patients with suspected tuberculosis.
Front Immunol
January 2025
Division of Infectious Diseases, Department of Internal Medicine, State Key Laboratory of Complex Severe and Rare Disease, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Objective: This study aims to evaluate the diagnostic accuracy of a (MTB)-specific triple-color FluoroSpot assay (IFN-γ/IL-2/TNF-α) in the differentiation of tuberculosis (TB) infection status in febrile patients.
Method: Febrile patients with suspected active TB (ATB) were consecutively enrolled. The frequencies and proportions of MTB-specific T cells secreting IFN-γ, IL-2, and TNF-α were detected at the single-cell level by triple-color FluoroSpot assay.
Case report: Adult case of A20 haploinsufficiency suspected as neuro-Behçet disease.
Front Immunol
January 2025
Department of Rheumatology & Allergology, Japanese Red Cross Medical Center, Tokyo, Japan.
Patients with A20 haploinsufficiency (HA20) presenting with central nervous system (CNS) symptoms are rare, and available reports are limited. Here, we describe a patient with HA20, previously followed up as Behçet disease, who presented with CNS symptoms in adulthood. A 38-year-old Japanese male who had been followed up for incomplete Behçet disease at another hospital since 28 years of age presented to our hospital with acute-onset diplopia and persistent hiccups that were severe enough to cause vomiting.
View Article and Find Full Text PDFBackground: Short-chain fatty acids (SCFAs), derived from the fermentation of dietary fiber by intestinal commensal bacteria, have demonstrated protective effects against acute lung injury (ALI) in animal models. However, the findings have shown variability across different studies. It is necessary to conduct a comprehensive evaluation of the efficacy of these treatments and their consistency.
View Article and Find Full Text PDFPhotodynamic therapy with a novel photosensitizer inhibits DSS-induced ulcerative colitis in rats via the NF-κB signaling pathway.
Front Pharmacol
January 2025
Tianjin Key Laboratory of Biomedical Material, Institute of Biomedical Engineering, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, China.
Introduction: Ulcerative colitis (UC) is an inflammatory bowel disease characterized by inflammation and ulceration of the digestive tract.
Methods: Photodynamic therapy (PDT) with a novel photosensitizer LD was used to treat UC rat models to explore the therapeutic effect and mechanism of LD-PDT on UC. 16S ribosomal RNA was used to detect the composition of Gut microbiota.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!