Intérêt du rituximab dans les cytopénies auto-immunes réfractaires (thèse)

NICE-BU Médecine Odontologie (060882102) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Intérêt du rituximab dans les myasthénies réfractaires

NICE-BU Médecine Odontologie (060882102) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Sclérites et épisclérites (aspects cliniques, étiologiques et thérapeutiques)

Les sclérites et les épisclérites désignent des maladies inflammatoires rares de la sclère, pour la moitié d entre elles associées à des maladies de système dont elles peuvent être le symptôme révélateur. Elles peuvent constituer une urgence diagnostique et thérapeutique du fait du pronostic visuel mis en jeu. Du fait de leur faible incidence, peu de données sont disponibles concernant la démarche diagnostique à mettre en place afin d optimiser la prise en charge thérapeutique. L objectif de ce travail était d évaluer la proportion de maladies secondaires associées aux sclérites et/ou épisclérite après un bilan étiologique standardisé et d évaluer l intérêt de l hydroxychloroquine dans la prise en charge de l inflammation sclérale idiopathique. Nous avons colligé de façon rétrospective une série de patients atteints de sclérites et /ou épisclérites pris en charge conjointement en Médecine Interne et en Ophtalmologie entre 1997 et 2012 dans le CHU de Nice. 19 patients ont été inclus : 7 patients présentaient une épisclérite et 14 patients une sclérite. Deux patients souffraient de l association des deux maladies. Le bilan clinico-biologique a révélé une maladie secondaire associée aux épisclérites et aux sclérites respectivement dans 57% et 82% des cas. Les explorations ont mis en évidence une maladie de système chez deux patients avec épisclérite : gougerot Sjögren (n=1), granulomatose avec polyangéite (n=1), et chez 9 patients atteints de sclérites : granulomatose avec polyangéite (n=6), polyarthrite rhumatoïde (n=1), syndrome d hyper IgG4 (n=1), Gougerot Sjögren (n=1).Six patients atteints de pathologies sclérales idiopathiques (3 épisclérites et 3 sclérites) se sont vu proposer de l hydroxychloroquine. 100 % des patients dès trois mois étaient en rémission et le sont restés, avec un suivi moyen de 50,33 mois. L introduction des antipaludéens de synthèse a permis chez deux patients l arrêt des traitements systémiques. Seul un patient a présenté des effets secondaires digestifs ayant nécessité l arrêt du traitement. Un traitement par chloroquine en relais a permis la poursuite de la rémission. Notre étude retrouve un diagnostic positif dans 82 % des cas, en rapport avec des maladies associées aux pathologies sclérales. Il s agit le plus souvent de maladies de systèmes. Une gestion rapide pluridisciplinaire, un bilan étiologique exhaustif, une absence de corticothérapie avant exploration semblerait améliorer la prise en charge des patients. L utilisation de l hydroxychloroquine (aux propriétés immunomodulatrices et anti-inflammatoires) dans les sclérites et/ou épisclérites idiopathiques semblerait efficace et permettrait une épargne voire un sevrage en cortisone ainsi que l éviction d escalade thérapeutique. Des études avec prospectives avec des effectifs plus importants devront être menées afin de confirmer ces données.NICE-BU Médecine Odontologie (060882102) / SudocSudocFranceF

STAT3 gain of function: a new aetiology of severe rheumatic disease

International audienc

Quality of life in patients with uveitis: data from the ULISSE study (Uveitis: cLInical and medico-economic evaluation of a Standardised Strategy for the Etiological diagnosis)

International audienc

A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience

International audienceDeficiency of adenosine deaminase 2 (DADA2) is a recently described autoinflammatory disorder. Genetic analysis is required to confirm the diagnosis. We aimed to describe the identifying symptoms and genotypes of patients referred to our reference centres and to improve the indications for genetic testing. DNA from 66 patients with clinically suspected DADA2 were sequenced by Sanger or next-generation sequencing. Detailed epidemiological, clinical and biological features were collected by use of a questionnaire and were compared between patients with and without genetic confirmation of DADA2. We identified 13 patients (19.6%) carrying recessively inherited mutations in ADA2 that were predicted to be deleterious. Eight patients were compound heterozygous for mutations. Seven mutations were novel (4 missense variants, 2 predicted to affect mRNA splicing and 1 frameshift). The mean age of the 13 patients with genetic confirmation was 12.7 years at disease onset and 20.8 years at diagnosis. Phenotypic manifestations included fever (85%), vasculitis (85%) and neurological disorders (54%). Features best associated with a confirmatory genotype included fever with neurologic or cutaneous attacks (odds ratio [OR] 10.71, p = 0.003 and OR 10.9, p < 0.001), fever alone (OR 8.1, p = 0.01), and elevated C-reactive protein (CRP) level with neurologic involvement (OR 6.63, p = 0.017). Our proposed decision tree may help improve obtaining genetic confirmation of DADA2 in the context of autoinflammatory symptoms. Prerequisites for quick and low-cost Sanger analysis include one typical cutaneous or neurological sign, one marker of inflammation (fever or elevated CRP level), and recurrent or chronic attacks in adult

Surgery in rare bleeding disorders: the prospective MARACHI study

International audienc

History of pre-eclampsia does not appear to be a risk factor for vascular phenotype in women with systemic sclerosis

International audienceBACKGROUND: Vascular phenotype is associated with a poor prognosis in systemic sclerosis (SSc). The identification of its risk factors could facilitate its early detection. OBJECTIVES: To explore risk factors for a vascular phenotype of SSc, among them a history of pre-eclampsia. METHODS: This observational multicentre case-control study enrolled adult women fulfilling European Alliance of Associations for Rheumatology 2013 diagnosis criteria for SSc and having a pregnancy history≥6 months before SSc diagnosis in 14 French hospital-based recruiting centres from July 2020 to July 2022. Cases had specific vascular complications of SSc defined as history of digital ischaemic ulcers, pulmonary arterial hypertension, specific cardiac involvement or renal crisis. Women with SSc were included during their annual follow-up visit and filled in a self-administered questionnaire about pregnancy. A case report form was completed by their physician, reporting data on medical history, physical examination, clinical investigations and current medication. The main outcome was the presence/absence of a personal history of pre-eclampsia before SSc diagnosis, according to the validated pre-eclampsia questionnaire. RESULTS: 378 women were included: 129 cases with a vascular phenotype and 249 matched controls. A history of pre-eclampsia was reported in 5 (3.9%) cases and 12 (4.8%) controls and was not associated with a vascular phenotype (OR=0.96, 95% CI 0.28 to 3.34, p=0.9). Besides, Rodnan skin score and disease duration≥5 years were risk factors for vascular phenotype. CONCLUSIONS: In women with SSc and a pregnancy history≥6 months before SSc, a history of pre-eclampsia is not associated with a vascular phenotype

Randomized controlled trial evaluating a standardized strategy for uveitis etiologic diagnosis (ULISSE)

PURPOSE:To prospectively assess the efficiency of a standardized diagnostic approach, compared to an open strategy, for the etiologic diagnosis of uveitis.DESIGN: Noninferiority, prospective, multicenter, clustered randomized controlled trial.METHODS: Consecutive patients with uveitis, who visited 1 of the participating departments of ophthalmology, were included. In the standardized group, all patients had a minimal evaluation regardless of the type of uveitis (complete blood count, erythrocyte sedimentation rate, C-reactive protein, tuberculin skin test, syphilis serology, and chest radiograph) followed by more complex investigations according to ophthalmologic findings. In the open group, the ophthalmologist could order any type of investigation. Main outcome was the percentage of etiologic diagnoses at 6 months.RESULTS: Nine hundred and three patients with uveitis were included from January 2010 to May 2013 and the per-protocol population comprised 676 patients (open 373; standardized 303). Mean age at diagnosis was 46 years. Anatomic distribution of uveitis was as follows: anterior (60.8% and 72.3%, P [ .0017), intermediate (11.7% and 12.3%, P [ .8028), posterior (17.8% and 8.2%, P [ .0004), and panuveitis (15.3% and 15.2%, P [ .9596). An etiologic diagnosis was established in 54.4% of cases in the open group and 49.5% in the standardized group (P [ .2029). The difference between both strategies (standardized minus open) was L4.9% (95% CI [L12.5%; 2.6%]). There were more investigations in the open group than in the standardized group (5371 vs 3759, P<.0001).CONCLUSION: The standardized strategy appears to be an efficient diagnostic approach for the etiologic diagnosis of uveitis, although its noninferiority cannot be proved. (Am J Ophthalmol 2017;178:176–185. _ 2017