Revue De Medecine Interne最新文献

{"title":"Une artérite à cellules géantes révélée par une ophtalmoplégie internucléaire bilatérale","authors":"Robin Deshayes ,&nbsp;Jesus Aguilar ,&nbsp;Géraldine Mineur ,&nbsp;Romain Collot ,&nbsp;Olivier Espitia ,&nbsp;Christian Agard","doi":"10.1016/j.revmed.2025.02.013","DOIUrl":"10.1016/j.revmed.2025.02.013","url":null,"abstract":"<div><h3>Introduction</h3><div>We report an original observation of giant cell arteritis (GCA) revealed by bilateral internuclear ophthalmoplegia due to parenchymal inflammatory involvement of the central nervous system.</div></div><div><h3>Case report</h3><div>An 84-year-old female patient presented to our emergency department because of diplopia due to bilateral internuclear ophthalmoplegia. Cerebral MRI found a T2 hypersignal with enhancement after gadolinium injection in T1 sequence of the two medial longitudinal fascicles. Lumbar puncture was negative, biology only found elevated acute phase response proteins, PET scan showed large vessel vasculitis and temporal artery biopsy revealed GCA. Treatment with corticosteroids and methotrexate led to normalization of clinical, radiological and biological abnormalities during follow-up.</div></div><div><h3>Conclusion</h3><div>Bilateral internuclear ophthalmoplegia due to parenchymal inflammatory involvement of the central nervous system may be an ocular manifestation of GCA.</div></div>","PeriodicalId":54458,"journal":{"name":"Revue De Medecine Interne","volume":"46 6","pages":"Pages 352-354"},"PeriodicalIF":0.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143797530","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Chez les personnes avec sténose aortique sévère asymptomatique, est-ce qu’un remplacement valvulaire aortique percutané améliore le pronostic tout en étant sécuritaire ?","authors":"Luc Lanthier ,&nbsp;Alexandre Mutchmore ,&nbsp;Marc-Émile Plourde ,&nbsp;Michel Cauchon","doi":"10.1016/j.revmed.2025.03.428","DOIUrl":"10.1016/j.revmed.2025.03.428","url":null,"abstract":"","PeriodicalId":54458,"journal":{"name":"Revue De Medecine Interne","volume":"46 6","pages":"Pages 363-364"},"PeriodicalIF":0.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144056155","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"French protocol for diagnosis and management of type 1 interferonopathies","authors":"Alexandre Belot ,&nbsp;Odile Boespflug-Tanguy ,&nbsp;Guilaine Boursier ,&nbsp;Marie Hully ,&nbsp;Bénédicte Neven ,&nbsp;Florence Renaldo ,&nbsp;Héloïse Reumaux ,&nbsp;Sébastien Viel ,&nbsp;Marie-Louise Frémond ,&nbsp;Isabelle Melki","doi":"10.1016/j.revmed.2025.04.027","DOIUrl":"10.1016/j.revmed.2025.04.027","url":null,"abstract":"<div><div>Type I interferonopathies are rare genetic diseases characterised by excessive production or signalling of type I interferons (IFN-I), which are key cytokines in the antiviral response. These conditions lead to inappropriate activation of IFN-I pathway, even in the absence of viral stimulation. Over thirty monogenic conditions have been identified, with Aicardi-Goutières syndrome being the most common. The genes involved often relate to the metabolism of intracellular nucleic acids, their detection and signalling pathways, contributing to excessive IFN-I production or signalling. Features usually appear early in life, often within the first year, but diagnosis can also occur in adulthood. It is important to investigate whether there is a family history of consanguinity or vertically transmitted conditions. Key diagnostic features include: (1) Neurological: pseudo-encephalitic phase, psychomotor development retardation or regression, static encephalopathy, spasticity, microcephaly, aseptic lymphocytic meningitis. (2) Radiological: cerebral calcifications, white matter signal abnormalities, cerebral atrophy. (3) Dermatological: chilblains, skin necrosis, skin lesions suggestive of systemic lupus erythematosus (SLE), vasculitis, livedo, panniculitis. (4) Ophthalmological: early-onset glaucoma. (5) Musculoskeletal: myalgia, myositis, joint deformity with calcification, joint subluxation. (6) Pulmonary and renal: interstitial lung disease, pulmonary fibrosis, alveolar haemorrhage, lupus nephritis. (7) Laboratory evidence: lymphopenia, elevated erythrocyte sedimentation rate with normal C-reactive protein, positive antinuclear antibodies. Type I interferonopathies can mimic more common conditions like viral foetopathy or systemic lupus erythematosus. The disease expressivity is variable, even within the same family, making a detailed family history essential. The hallmark of these diseases is increased IFN-I levels in peripheral blood and/or cerebrospinal fluid, a test available only in specialised laboratories. Based on clinical suspicion, patients should be referred to an expert centre. There is no curative treatment to date. Management is multidisciplinary, focusing on symptomatic treatment. In cases of systemic or dermatological involvement, immunosuppressive therapy may be considered, though it increases susceptibility to viral infections. Vaccinations should be updated, with live vaccines contraindicated during immunosuppression unless otherwise specified (<span><span>Supplemental 2</span></span>). Monitoring development, supporting disability, and coordinating with social and medical institutions are also crucial aspects of care.</div></div>","PeriodicalId":54458,"journal":{"name":"Revue De Medecine Interne","volume":"46 6","pages":"Pages 320-340"},"PeriodicalIF":0.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144195395","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Immuno’logique (l’actualité scientifique que vous n’auriez pas osé lire ailleurs) : chromosome X, Xist et auto-immunité féminine","authors":"Valentin Lacombe","doi":"10.1016/j.revmed.2025.02.009","DOIUrl":"10.1016/j.revmed.2025.02.009","url":null,"abstract":"<div><div>This first article in the <em>Immuno’logical</em> series explores the role of the X chromosome and the non-coding RNA Xist in the female predisposition to autoimmune diseases, by breaking down three fundamental research studies to make them more digestible for non-experts. Xist is a non-coding RNA that inactivates one of the two X chromosomes in every female cell by wrapping around it. Here, we dive into how Xist is involved in the production of anti-RNP antibodies in lupus, how the <em>TLR7</em> gene can be a rebel and escape Xist's control, and how a lack of affinity between Xist and its X chromosome can contribute to other autoimmune diseases. Let's be serious without taking ourselves too seriously, and uncover the fascinating world of Xist in autoimmunity!</div></div>","PeriodicalId":54458,"journal":{"name":"Revue De Medecine Interne","volume":"46 6","pages":"Pages 348-351"},"PeriodicalIF":0.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143588889","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Uvéites auto-inflammatoires monogéniques","authors":"Hippolyte Lequain ,&nbsp;Laurent Kodjikian ,&nbsp;Isabelle Meunier ,&nbsp;Yvan Jamilloux ,&nbsp;Pascal Sève","doi":"10.1016/j.revmed.2025.03.001","DOIUrl":"10.1016/j.revmed.2025.03.001","url":null,"abstract":"<div><div>Monogenic autoinflammatory uveitis belongs to the spectrum of monogenic autoinflammatory diseases. When early-onset uveitis is associated with specific extra-ocular manifestations, particularly in a familial or geographical context, it guides the clinician towards a diagnosis of a monogenic autoinflammatory disease. The clinical presentation and mode of inheritance will help identify the underlying cause, and the detection of a pathogenic variant will confirm the diagnosis and guide the management approach. In this review, we outline the main monogenic autoinflammatory uveitis conditions that clinicians should be aware of: Blau syndrome, ROSAH syndrome, cryopyrin-associated periodic syndromes (CAPS), partial mevalonate kinase deficiency, A20 haploinsufficiency, and NEMO syndrome.</div></div>","PeriodicalId":54458,"journal":{"name":"Revue De Medecine Interne","volume":"46 6","pages":"Pages 341-347"},"PeriodicalIF":0.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143723029","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Intérêt du siltuximab en alternative thérapeutique dans la maladie de Still de l’adulte multiréfractaire : à propos de 4 cas","authors":"Julie Moreau ,&nbsp;Amélie Leurs ,&nbsp;Emmanuel Ledoult ,&nbsp;Sébastien Sanges ,&nbsp;Pierre Quartier ,&nbsp;Thibault Comont ,&nbsp;David Launay ,&nbsp;Eric Hachulla ,&nbsp;Louis Terriou","doi":"10.1016/j.revmed.2025.05.002","DOIUrl":"10.1016/j.revmed.2025.05.002","url":null,"abstract":"<div><h3>Introduction</h3><div>Adult-onset Still's disease (AOSD) is a systemic auto-inflammatory disorder characterized by a cytokine storm. Four major cytokines can be specifically targeted in severe, refractory or corticosteroid-dependent forms: interleukin 1 (IL-1), interleukin 6 (IL-6), interleukin 18 (IL-18), and Tumor necrosis factor alpha (TNFa). According to the French national protocol for adult-onset Still's disease, anti-IL-6 agents are the second-line of treatment after corticosteroids. We report here on the efficacy and safety of siltuximab prescribed off-label in patients with multi-refractory forms.</div></div><div><h3>Observations/results</h3><div>These 4 patients, aged 24 to 74 years old, had polycyclic and inflammatory AOSD. The introduction of siltuximab was proposed after failure or poor tolerance of several lines of treatment. A partial or complete clinico-biological response was observed in all 4 patients.</div></div><div><h3>Conclusion</h3><div>Siltuximab is a possible salvage treatment for multi-refractory AOSD.</div></div>","PeriodicalId":54458,"journal":{"name":"Revue De Medecine Interne","volume":"46 7","pages":"Pages 415-420"},"PeriodicalIF":0.7,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144145291","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Immune checkpoint inhibitor-related eosinophilic fasciitis: 3 case reports with literature review","authors":"Mélanie Biteau ,&nbsp;Vincent Sibaud ,&nbsp;Alexandre Maria ,&nbsp;Jérémie Dion ,&nbsp;Emanuelle Uro-Coste ,&nbsp;Aurore Siegfried ,&nbsp;Andréa Pastissier ,&nbsp;Pierre Cougoul ,&nbsp;Karen Delavigne ,&nbsp;Tthibault Comont ,&nbsp;Valérian Rivet","doi":"10.1016/j.revmed.2025.05.004","DOIUrl":"10.1016/j.revmed.2025.05.004","url":null,"abstract":"<div><h3>Introduction</h3><div>Immune checkpoint inhibitors (ICIs) are associated with a large spectrum of immune-related Adverse Events (irAEs). ICIs can exceptionally induce eosinophilic fasciitis (EF). Data of ICI-related EF (ICI-EF) are scarce without clear guidelines on both diagnosis and treatment.</div></div><div><h3>Methods</h3><div>We conducted a literature review of all cases of patients over 18 years old with EF diagnosis following ICI treatment between 2016 and November 2023 and meeting Pinal-Fernandez's criteria. New cases from two departments (French Region of Occitania) were added to complete the cohort.</div></div><div><h3>Results</h3><div>We selected 30 cases: 27 from literature review and 3 new cases diagnosed in Occitania. There was male predominance, with a sex ratio (M/F) of 1.3 with a median age of 57 years. The most common tumor was melanoma (50%). The time to onset was 10 months. Twenty-two patients (73%) had hypereosinophilia (mean 3300/mm³). A large majority (25/30, 83%) received at least one course of steroids therapy while immunosuppressive treatment was needed for 18 patients (72%). Rechallenge was proposed in 2 patients without recurrence of EF.</div></div><div><h3>Discussion</h3><div>Clinical and biological characteristics appeared roughly similar between ICI-EF and idiopathic-EF. Management is currently based on clinical practice of idiopathic-EF with corticosteroids often used in first line of treatment. However, a second line (methotrexate of mycophenolate mofetil) was required in majority of patients as observed in idiopathic-EF.</div></div><div><h3>Conclusion</h3><div>There is a significant reporting signal of EF following ICIs. A proactive management is required in all cases. A specific algorithm for treatment is finally proposed.</div></div>","PeriodicalId":54458,"journal":{"name":"Revue De Medecine Interne","volume":"46 7","pages":"Pages 377-385"},"PeriodicalIF":0.7,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144121798","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Chez les personnes avec diabète de type 2 à risque cardiovasculaire élevé, est-ce que le sémaglutide oral est efficace et sécuritaire pour diminuer les évènements cardiovasculaires majeurs comparativement au placébo ?","authors":"Alexandre Mutchmore ,&nbsp;Mathieu Labossière ,&nbsp;Michel Cauchon ,&nbsp;Marc-Émile Plourde ,&nbsp;Luc Lanthier","doi":"10.1016/j.revmed.2025.05.010","DOIUrl":"10.1016/j.revmed.2025.05.010","url":null,"abstract":"","PeriodicalId":54458,"journal":{"name":"Revue De Medecine Interne","volume":"46 7","pages":"Pages 436-437"},"PeriodicalIF":0.7,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144121793","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Le ruisseau qui cache la forêt","authors":"Edouard Flamarion ,&nbsp;Yaelle Apoolingum ,&nbsp;Jean-Benoit Arlet ,&nbsp;Jacques Pouchot ,&nbsp;Brigitte Ranque ,&nbsp;Adrien Michon ,&nbsp;Emmanuel Lafont ,&nbsp;Prunelle Getten ,&nbsp;François Maillet ,&nbsp;Esther Edery ,&nbsp;Mohamed Jabri ,&nbsp;Philine Witkowski-Durand-Viel","doi":"10.1016/j.revmed.2025.05.003","DOIUrl":"10.1016/j.revmed.2025.05.003","url":null,"abstract":"","PeriodicalId":54458,"journal":{"name":"Revue De Medecine Interne","volume":"46 7","pages":"Pages 423-426"},"PeriodicalIF":0.7,"publicationDate":"2025-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144096493","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bienvenue en terres Arvernes à Vichy, pour le 90e congrès de la SNFMI","authors":"","doi":"10.1016/j.revmed.2025.05.001","DOIUrl":"10.1016/j.revmed.2025.05.001","url":null,"abstract":"","PeriodicalId":54458,"journal":{"name":"Revue De Medecine Interne","volume":"46 ","pages":"Page A1"},"PeriodicalIF":0.7,"publicationDate":"2025-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144067571","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}