Revue De Medecine Interne最新文献

{"title":"Des ongles striés","authors":"S. Vignes","doi":"10.1016/j.revmed.2025.01.005","DOIUrl":"10.1016/j.revmed.2025.01.005","url":null,"abstract":"","PeriodicalId":54458,"journal":{"name":"Revue De Medecine Interne","volume":"46 6","pages":"Pages 355-356"},"PeriodicalIF":0.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143076796","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":"Portrait du Dr Chloé Comarmond, MCU-PH à l’hôpital Lariboisière, Paris","authors":"Aïcha Kante , Jonathan Sormani , Anaïs Roeser","doi":"10.1016/j.revmed.2025.02.011","DOIUrl":"10.1016/j.revmed.2025.02.011","url":null,"abstract":"","PeriodicalId":54458,"journal":{"name":"Revue De Medecine Interne","volume":"46 6","pages":"Pages 360-362"},"PeriodicalIF":0.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144195385","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":"Issue Contents","authors":"","doi":"10.1016/S0248-8663(25)00633-2","DOIUrl":"10.1016/S0248-8663(25)00633-2","url":null,"abstract":"","PeriodicalId":54458,"journal":{"name":"Revue De Medecine Interne","volume":"46 6","pages":"Pages e11-e12"},"PeriodicalIF":0.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144195387","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":"L’upadacitinib : une (r)évolution pour la prise en charge de l’ACG ?","authors":"Maxime Samson, Hubert de Boysson","doi":"10.1016/j.revmed.2025.05.015","DOIUrl":"10.1016/j.revmed.2025.05.015","url":null,"abstract":"","PeriodicalId":54458,"journal":{"name":"Revue De Medecine Interne","volume":"46 6","pages":"Pages 311-312"},"PeriodicalIF":0.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144195388","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":"Thrombopénie immunologique induite par chimiothérapie : un coupable peut en cacher un autre","authors":"François Therme ,&nbsp;Juliette Guiraud-Chaumeil ,&nbsp;Géraldine Perkins ,&nbsp;Margaux Lafaurie ,&nbsp;Julien Maquet ,&nbsp;Marie-Léa Piel-Julian ,&nbsp;Sophie Voisin ,&nbsp;Gérald Bertrand ,&nbsp;Guillaume Moulis","doi":"10.1016/j.revmed.2025.03.427","DOIUrl":"10.1016/j.revmed.2025.03.427","url":null,"abstract":"<div><h3>Introduction</h3><div>Drug-induced immune thrombocytopenia (DIIT) is a rare cause of immune thrombocytopenia, characterized by the formation of drug-dependent antiplatelet antibodies. DIIT can lead to life-threatening hemorrhage. The diagnosis is difficult, relying on the detection of antiplatelet antibodies in patient's serum exclusively in the presence of the implicated drug. The gold standard test is the monoclonal antibody immobilization of platelet antigens (MAIPA), although other techniques (flow cytometry and Luminex®) can be used.</div></div><div><h3>Patients</h3><div>We report two cases of DIIT induced by both oxaliplatin and methylprednisolone.</div></div><div><h3>Results</h3><div>The two patients were undergoing chemotherapy for colon malignancy, receiving a regimen including oxaliplatin following premedication with methylprednisolone. Thrombocytopenia occurred within hours after one infusion (both patients had received prior courses with this regimen). Immunological tests for both patients revealed antiplatelet antibodies in the presence of oxaliplatin (anti-GPIIbIIIa in the first observation, and polytypic in the second one) and methylprednisolone (anti-GPIbV in the first observation and GPIIbIIIa in the second one). After the discontinuation of the implicated drugs (and treatment with prednisone plus intravenous immunoglobulin for the first patient), both patients showed rapid improvement in a few days. Both patients continued chemotherapy without oxaliplatin and methylprednisolone. No relapse was observed during the follow up.</div></div><div><h3>Conclusion</h3><div>DIIT are a rare cause of secondary immune thrombocytopenia. Diagnosis is complex, and the detection of drug-dependent antiplatelet antibodies in reference laboratories is essential. Oxaliplatin is a classical cause of DIIT. However, associated drugs like methylprednisolone can also be responsible for DIIT.</div></div>","PeriodicalId":54458,"journal":{"name":"Revue De Medecine Interne","volume":"46 6","pages":"Pages 313-319"},"PeriodicalIF":0.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144082909","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":"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}