Objectives: To assess the association between infections, assessed by antibiotic reimbursement, and the occurrence of giant cell arteritis (GCA) and/or polymyalgia rheumatica (PMR).
Methods: We conducted a nested case-control study from the French cohort E3N-European Prospective Investigation into Cancer and Nutrition, which has followed 98,995 women since 1990. Cases, defined as patients who developed GCA and/or PMR during follow-up, were matched with 20 controls on age and vital status.
Laryngoscope Investig Otolaryngol
June 2025
Objectives: Rodents are used in most otological research studies and the choice of the most appropriate animal model may be crucial in studies of ear diseases and in the development of effective treatments. Here, we used micro-CT to compare temporal bone anatomy between four rodent model animals (guinea pigs, gerbils, rats, and mice) and humans, aiming to better characterize the anatomy of the inner and middle ear, and facial nerve to support informed animal model selection in otologic research.
Methods: We generated three-dimensional reconstructions and measured the various middle (tympanic membrane, ossicular chain, and facial nerve) and inner (cochlea, vestibular labyrinth) ear structures.
Background: The autosomal recessive deafness 9 (DFNB9) is caused by mutations in the otoferlin gene that accounts for 2-8% of all inherited deafness cases. In a previous study, we demonstrated that Adeno-associated virus (AAV) gene therapy restored hearing in a preclinical mouse model of profound DFNB9 deafness caused by a frameshift mutation leading to a complete loss of otoferlin expression. However, it remains to be demonstrated that it can address the full spectrum of DFNB9 deafness severity, while also restoring central auditory processing essential for speech understanding.
View Article and Find Full Text PDFObjective: To determine distinct patterns of patients with autoimmune diseases harbouring anti-Ku antibodies and their respective prognosis.
Methods: Anti-Ku-positive patients were retrieved through four immunology departments. Clusters were derived from unsupervised multiple correspondence analysis, not including the disease's diagnosis, followed by hierarchical clustering.
VEXAS (Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic) syndrome is a severe monogenic disorder caused by somatic UBA1 mutations, characterized by inflammation, cytopenias and frequent association with myelodysplastic neoplasms (MDS). Steroid dependence is common, and targeted therapies have demonstrated limited efficacy. Azacitidine (AZA), a hypomethylating agent used in MDS, has shown potential in VEXAS but data remain limited.
View Article and Find Full Text PDFGaucher disease (GD) is a rare autosomal-recessive lysosomal disorder caused by glucocerebrosidase deficiency. In this study, we described the epidemiology of GD in France over more than three decades. The French GD registry (FGDR) includes all known patients with GD in France.
View Article and Find Full Text PDFEur Arch Otorhinolaryngol
May 2025
Introduction: The incidence of otosclerosis appears to have been declining since the late 1970s. We conducted a retrospective nationwide study to assess the evolution of the annual number of stapes surgeries and to analyze the changes in technical practices, specifically comparing laser techniques to cold instruments.
Methods: We examined the French national dataset from the "Programme de Médicalisation des Systèmes d'Information" (PMSI).
Eur Arch Otorhinolaryngol
April 2025
Purpose: Cochlear implant (CI) effectiveness in asymmetric hearing loss (AHL) is well established, but CI use over time and daily usage are rarely monitored by health care systems. Continued use of the CI after the first year could be considered an indirect indicator of subjective benefit. The objective of this study was to evaluate CI use with a follow-up period of 5 years.
View Article and Find Full Text PDFBackground: Debates and research about otosclerosis and stapes surgery have continued since the time it was described, and there is still no consensus on many issues. The aim of this article is to report the controversies in the etiology, pathophysiology, diagnosis, imaging, treatment, and management of otosclerosis and address the points of consensus of experts.
Methods: In the last session of the Fifth International Otosclerosis and Stapes Surgery Symposium held in Brussels, a round table meeting was held where controversial issues in otosclerosis and stapes surgery were discussed, and a survey was administered to all participants.
Objective: To systematically review all existing Sjögren disease (SjD)-related instruments reported in clinical trials for SjD.
Methods: We systematically searched Medline (PubMed) and EMBASE between January 2002 and March 2023 to identify all randomized controlled trials (RCTs) using both a manual approach and artificial intelligence software (Bibliography BOT). We extracted all the instruments used as primary or secondary outcomes and assessed whether the study succeeded in improving the outcome.
Objectives: We aimed to analyse the association between cardiovascular risks factors and the onset of GCA through a systematic review and meta-analysis of observational studies.
Methods: Three databases (Medline, Embase, Web of Science) were systematically reviewed. Epidemiological studies on the association between six cardiovascular risk factors (type 2 diabetes, hypertension, dyslipidaemia, smoking, overweight/obesity, history of a cardiovascular disease) and the risk of GCA were eligible.
Treatment options for Type 1 Gaucher Disease (GD1) include enzyme replacement therapy and oral substrate reduction therapy. The criteria for treatment initiation vary across regions. Recent retrospective studies have highlighted the natural progression of never-treated GD1, suggesting that some patients remain asymptomatic or stable for extended periods.
View Article and Find Full Text PDFLupus Sci Med
March 2025
Objective: Little is known about the risk of SLE flares associated with hydroxychloroquine (HCQ) reduction or cessation, especially after ophthalmological screening. We analysed the risk of SLE flares after HCQ reduction or discontinuation after detection of early ophthalmological toxicity.
Methods: This study includes all patients with SLE among the 109 included in the prospective PERFOCTAPS Study and treated with HCQ for at least 5 years.
Background: Currently, diagnosis of bacterial infections is based on culture, possibly followed by the amplification and sequencing (Sanger method) of the 16S rDNA - encoding gene when cultures are negative. Clinical metagenomics (CMg), i.e.
View Article and Find Full Text PDFBackground: The PEXIVAS (Plasma exchange and glucocorticoids in severe antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis) trial showed that a reduced-dose glucocorticoid regimen (redGC) was non-inferior to a standard-dose regimen (standGC) with respect to death or end-stage kidney disease (ESKD) in patients with ANCA-associated vasculitis (AAV). However, the primary endpoint did not include disease progression or relapse, cyclophosphamide was the main induction therapy and rituximab (RTX)-treated patients tended to have a higher risk of death or ESKD with redGC. We aimed to evaluate the real-world use of redGC.
View Article and Find Full Text PDFRheumatology (Oxford)
June 2025
Objectives: To describe the characteristics and outcome of patients with the association of large vessel vasculitis (LVV, Takayasu arteritis [TA] or GCA) and IBD.
Methods: An observational, multicentre, retrospective case-control study. Cases were LVV-IBD patients from European countries, whereas controls had isolated LVV (iLVV).
Background: Historically, women have been shown to underestimate their abilities, while men often assess themselves more accurately or overestimate. This study aims to determine self-assessment accuracy during online Objective Structured Clinical Examinations (OSCEs) according to gender.
Methods: A prospective study was conducted among fourth-year medical students at Paris Cité University during faculty training OSCEs, utilizing Zoom® software for remote participation.
Objective: Recently, three distinct phenotypes of patients with Sjögren disease (SjD) 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 interferon (IFN) signature.
Methods: The Assessment of Systemic Signs and Evolution in Sjögren's Syndrome cohort is a 20-year prospective cohort of patients with SjD.
Objectives: The objectives of this study were to evaluate the effectiveness of short message service (SMS) and/or email reminders in improving influenza vaccination coverage rates among RA patients treated with anti-TNF therapies, and to identify factors associated with vaccination.
Methods: This study was a nested randomized controlled trial in the ART e-cohort, an ongoing French nationwide multicentre prospective cohort of RA patients treated with anti-TNF therapy. Patients were 1:1 randomized, with stratification on age.
Objectives: To determine the Incremental Cost-Utility Ratio (ICUR) of cochlear implantation in the treatment of adult patients with single-sided deafness (SSD) and asymmetric hearing loss (AHL).
Methods: This prospective multicenter pragmatic study including a randomized controlled trial (RCT) enrolled 155 subjects with SSD or AHL. Subjects chose a treatment option between: abstention, Contralateral Routing Of the Signal hearing aids, Bone Conduction Device or Cochlear Implant (CI).
Acta Neurochir (Wien)
September 2024