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Development and testing the psychometric properties of 20 bolt-on items for the EQ-5D-5L across 31 rare diseases.
Value Health
January 2025
Department of Cardiology and State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
Objective: Our objective was to develop and assess the psychometric properties of relevant bolt-on items for the EQ-5D-5L in patients with rare diseases (RDs).
Methods: Nineteen new EQ-5D-5L bolt-ons were developed based on literature review, expert input and qualitative interviews and focus groups with patients, caregivers and representatives of patient associations. A nationwide, cross-sectional, web-based survey in China included patients or caregivers of patients with 31 RDs in China (n=9,190).
Lupus and inflammatory bowel disease share a common set of microbiome features distinct from other autoimmune disorders.
Ann Rheum Dis
January 2025
Meinig School of Biomedical Engineering, Cornell University, Ithaca, New York, USA. Electronic address:
Objectives: This study aims to elucidate the microbial signatures associated with autoimmune diseases, particularly systemic lupus erythematosus (SLE) and inflammatory bowel disease (IBD), compared with colorectal cancer (CRC), to identify unique biomarkers and shared microbial mechanisms that could inform specific treatment protocols.
Methods: We analysed metagenomic datasets from patient cohorts with six autoimmune conditions-SLE, IBD, multiple sclerosis, myasthenia gravis, Graves' disease and ankylosing spondylitis-contrasting these with CRC metagenomes to delineate disease-specific microbial profiles. The study focused on identifying predictive biomarkers from species profiles and functional genes, integrating protein-protein interaction analyses to explore effector-like proteins and their targets in key signalling pathways.
Case report: Efgartigimod is a novel therapeutic option for ocular myasthenia gravis: a report of 2 cases.
Front Immunol
January 2025
Department of Neurology, The First Affiliated Hospital of China Medical University, Shenyang, China.
Introduction: Efgartigimod has been approved for the treatment of acetylcholine receptor antibodies-positive generalized myasthenia gravis (AChR-Ab+gMG), but its efficacy in patients with ocular myasthenia gravis (OMG) is not known.
Case Presentation: We describe 2 cases of patients with AChR-Ab+ OMG who showed unfavorable responses to corticosteroids and tacrolimus. Within 2 weeks of initiating efgartigimod, both patients showed rapid improvement and minimal symptom expression was achieved in weeks 3 to 4, which was maintained up to week 12.
Inebilizumab treatment in a patient with co-occurring AQP4-IgG positive neuromyelitis optica spectrum disorder and myasthenia gravis: a case report and literature review.
Front Immunol
January 2025
Department of Geriatric Medicine, Affiliated Hospital of Qingdao University, Qingdao, China.
Objective: This study aims to delineate the clinical features underlying the concurrent disease of neuromyelitis optica spectrum disorder (NMOSD) and myasthenia gravis (MG), and to identify efficacious therapeutic strategies.
Background: NMOSD and MG are uncommon autoimmune diseases that infrequently co-exist. Despite previous reports, a consensus on treating NMOSD concurrent with MG is lacking.
Systemic Inflammatory Diseases in Children with Sickle Cell Disease: A French Multicenter Observational Study on Diagnostic and Therapeutic Issues.
Pediatr Blood Cancer
January 2025
Pediatrics Department, Jean Verdier Hospital, APHP, Bondy, France.
Background: Systemic inflammatory diseases (SIDs) have been reported in patients with sickle cell disease (SCD), but clinical data in children are scarce.
Objectives: To identify clinical and laboratory features at diagnosis of SID in children with SCD and to describe their evolution.
Methods: Data from children with SCD and SIDs were retrospectively collected in a French multicenter study from 1991 to 2018.
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