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[Giant cell arteritis revealed by bilateral internuclear ophthalmoplegia]. [双侧核间性眼麻痹显示巨细胞动脉炎]。
La Revue de medecine interne Pub Date : 2025-04-03 DOI: 10.1016/j.revmed.2025.02.013
Robin Deshayes, Jesus Aguilar, Géraldine Mineur, Romain Collot, Olivier Espitia, Christian Agard
{"title":"[Giant cell arteritis revealed by bilateral internuclear ophthalmoplegia].","authors":"Robin Deshayes, Jesus Aguilar, Géraldine Mineur, Romain Collot, Olivier Espitia, Christian Agard","doi":"10.1016/j.revmed.2025.02.013","DOIUrl":"https://doi.org/10.1016/j.revmed.2025.02.013","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Case report: </strong>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.</p><p><strong>Conclusion: </strong>Bilateral internuclear ophthalmoplegia due to parenchymal inflammatory involvement of the central nervous system may be an ocular manifestation of GCA.</p>","PeriodicalId":94122,"journal":{"name":"La Revue de medecine interne","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143797530","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Monogenic autoinflammatory uveitis].
La Revue de medecine interne Pub Date : 2025-03-25 DOI: 10.1016/j.revmed.2025.03.001
Hippolyte Lequain, Laurent Kodjikian, Isabelle Meunier, Yvan Jamilloux, Pascal Sève
{"title":"[Monogenic autoinflammatory uveitis].","authors":"Hippolyte Lequain, Laurent Kodjikian, Isabelle Meunier, Yvan Jamilloux, Pascal Sève","doi":"10.1016/j.revmed.2025.03.001","DOIUrl":"https://doi.org/10.1016/j.revmed.2025.03.001","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":94122,"journal":{"name":"La Revue de medecine interne","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143723029","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Atrial fibrillation in 2025: Diagnosis and treatment]. [2025年心房颤动：诊断与治疗]。
La Revue de medecine interne Pub Date : 2025-03-12 DOI: 10.1016/j.revmed.2025.02.010
Jean-Marc Sellal, Néfissa Hammache, Mathieu Echivard
{"title":"[Atrial fibrillation in 2025: Diagnosis and treatment].","authors":"Jean-Marc Sellal, Néfissa Hammache, Mathieu Echivard","doi":"10.1016/j.revmed.2025.02.010","DOIUrl":"https://doi.org/10.1016/j.revmed.2025.02.010","url":null,"abstract":"<p><p>Atrial fibrillation (AF) is the most common arrhythmia. It increases the risk of hospitalization, heart failure, cognitive decline and mortality. It is the first cause of ischemic stroke. These are largely preventable if AF is diagnosed. It is essential to estimate the patient's embolic risk using the CHA2DS2-VA score, which now replaces the CHADS-Vasc score. Patients who require it must receive adequate anticoagulant treatment. New technologies (in particular, smart-watch) have led to advances in the detection and diagnosis of this arrhythmia. Patients suffering from AF may be treated with a heart rate control strategy (to limit tachycardia) or a rhythm control strategy (to maintain sinus rhythm). Catheter ablation is increasingly being offered to patients as an alternative to antiarrhythmic therapy. Controlling risk factors is essential to prevent the onset of AF, and to try to maintain sinus rhythm over the long term.</p>","PeriodicalId":94122,"journal":{"name":"La Revue de medecine interne","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143627335","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Immuno'logical (the scientific updates you wouldn't dare to read anywhere else): X chromosome, Xist, and female autoimmunity]. 免疫学（你在其他任何地方都不敢读到的科学更新）：X染色体，Xist和女性自身免疫。
La Revue de medecine interne Pub Date : 2025-03-07 DOI: 10.1016/j.revmed.2025.02.009
Valentin Lacombe
{"title":"[Immuno'logical (the scientific updates you wouldn't dare to read anywhere else): X chromosome, Xist, and female autoimmunity].","authors":"Valentin Lacombe","doi":"10.1016/j.revmed.2025.02.009","DOIUrl":"https://doi.org/10.1016/j.revmed.2025.02.009","url":null,"abstract":"<p><p>This first article in the Immuno'logical 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 TLR7 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!</p>","PeriodicalId":94122,"journal":{"name":"La Revue de medecine interne","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143588889","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Artificial intelligence in healthcare: A survival guide for internists]. [医疗保健中的人工智能：内科医生的生存指南]。
La Revue de medecine interne Pub Date : 2025-02-20 DOI: 10.1016/j.revmed.2025.02.002
Thomas Barba, Marie Robert, Arnaud Hot
{"title":"[Artificial intelligence in healthcare: A survival guide for internists].","authors":"Thomas Barba, Marie Robert, Arnaud Hot","doi":"10.1016/j.revmed.2025.02.002","DOIUrl":"https://doi.org/10.1016/j.revmed.2025.02.002","url":null,"abstract":"<p><p>Artificial intelligence (AI) is experiencing considerable growth in medicine, driven by the explosion of available biomedical data and the emergence of new algorithmic architectures. Applications are rapidly multiplying, from diagnostic assistance to disease progression prediction, paving the way for more personalized medicine. The recent advent of large language models, such as ChatGPT, has particularly interested the medical community, thanks to their ease of use, but also raised questions about their reliability in medical contexts. This review presents the fundamental concepts of medical AI, specifically distinguishing traditional discriminative approaches from new generative models. We detail the different exploitable data sources and methodological pitfalls to avoid during the development of these tools. Finally, we address the practical and ethical implications of this technological revolution, emphasizing the importance of the medical community's appropriation of these tools.</p>","PeriodicalId":94122,"journal":{"name":"La Revue de medecine interne","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143473386","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Ridged nails]. (脊指甲)。
La Revue de medecine interne Pub Date : 2025-01-29 DOI: 10.1016/j.revmed.2025.01.005
S Vignes
{"title":"[Ridged nails].","authors":"S Vignes","doi":"10.1016/j.revmed.2025.01.005","DOIUrl":"https://doi.org/10.1016/j.revmed.2025.01.005","url":null,"abstract":"","PeriodicalId":94122,"journal":{"name":"La Revue de medecine interne","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143076796","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Between the normal and the pathological: The concept of pre-disease applied to systemic autoimmune rheumatic diseases]. [正常与病理之间：应用于系统性自身免疫性风湿病的病前概念]。
La Revue de medecine interne Pub Date : 2024-11-25 DOI: 10.1016/j.revmed.2024.11.009
L Chiche, M-E Truchetet, D Cornec, C Immediato Daien
{"title":"[Between the normal and the pathological: The concept of pre-disease applied to systemic autoimmune rheumatic diseases].","authors":"L Chiche, M-E Truchetet, D Cornec, C Immediato Daien","doi":"10.1016/j.revmed.2024.11.009","DOIUrl":"https://doi.org/10.1016/j.revmed.2024.11.009","url":null,"abstract":"<p><p>The incidence of systemic autoimmune diseases is constantly rising. They are chronic diseases requiring prolonged treatment, with considerable psychosocial impact. While attention to the promising results obtained with CAR-T cells in refractory patients is justified, it seems important not to overlook the opportunities for prevention based on the identification of a pre-disease state. After clarifying the various stages that make up this pre-disease state, using the prototypical example of systemic lupus erythematosus, we will apply a transdisciplinary and transpathological approach to describe comparatively recent data obtained for other systemic autoimmune diseases (rheumatoid arthritis, Sjögren's syndrome and systemic scleroderma). We will then discuss the practical implications of this new paradigm in the typical consultation of a potentially \"pre-sick\" individual, and on the prospects opened up by this new paradigm in care and research.</p>","PeriodicalId":94122,"journal":{"name":"La Revue de medecine interne","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142735432","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Atypical and/or systemic dermatologic disorders related to immune checkpoint inhibitors: A review]. [与免疫检查点抑制剂有关的非典型和/或系统性皮肤病：综述]。
La Revue de medecine interne Pub Date : 2024-11-22 DOI: 10.1016/j.revmed.2024.11.011
Valérian Rivet, Vincent Sibaud, Jérémie Dion, Salomé Duteurtre, Mélanie Biteau, Cécile Pages, Andréa Pastissier, Karen Delavigne, Pierre Cougoul, Odile Rauzy, Thibault Comont
{"title":"[Atypical and/or systemic dermatologic disorders related to immune checkpoint inhibitors: A review].","authors":"Valérian Rivet, Vincent Sibaud, Jérémie Dion, Salomé Duteurtre, Mélanie Biteau, Cécile Pages, Andréa Pastissier, Karen Delavigne, Pierre Cougoul, Odile Rauzy, Thibault Comont","doi":"10.1016/j.revmed.2024.11.011","DOIUrl":"https://doi.org/10.1016/j.revmed.2024.11.011","url":null,"abstract":"<p><p>Immunological checkpoint inhibitors are now part of the oncological therapeutic arsenal in many solid cancers and malignant blood diseases, at the cost of immuno-mediated toxicities, of which dermatological disorders are among the most frequent. The most common, following treatment with anti-PD1 or anti-CTLA4, are maculopapular erythema, pruritus, vitiligo, or lichenoid lesions, but other more atypical conditions may lead to the internist being called upon. Here, we present a case series of these less common dermatological manifestations including fasciitis, dermatomyositis, scleroderma, granulomatosis and immune-induced vasculitis. Some manifestations appear similar to the primary forms or seem to correspond to paraneoplastic syndromes, but some diagnostic and therapeutic particularities are specific to ICI toxicity that the internist must be aware of.</p>","PeriodicalId":94122,"journal":{"name":"La Revue de medecine interne","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142696317","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Management of congenital thrombotic thrombocytopenic purpura in the era of recombinant ADAMTS13 protein: Recommendations from the Reference Center for Thrombotic Microangiopathies (CNR-MAT)]. [重组 ADAMTS13 蛋白时代的先天性血栓性血小板减少性紫癜管理：血栓性微血管病参考中心（CNR-MAT）的建议]。
La Revue de medecine interne Pub Date : 2024-11-21 DOI: 10.1016/j.revmed.2024.11.004
Bérangère S Joly, Adrien Joseph, Claire Dossier, Theresa Kwon, Nathalie Gouge-Biebuyck, Olivia Boyer, Vassilis Tsatsaris, Agnès Veyradier, Paul Coppo
{"title":"[Management of congenital thrombotic thrombocytopenic purpura in the era of recombinant ADAMTS13 protein: Recommendations from the Reference Center for Thrombotic Microangiopathies (CNR-MAT)].","authors":"Bérangère S Joly, Adrien Joseph, Claire Dossier, Theresa Kwon, Nathalie Gouge-Biebuyck, Olivia Boyer, Vassilis Tsatsaris, Agnès Veyradier, Paul Coppo","doi":"10.1016/j.revmed.2024.11.004","DOIUrl":"https://doi.org/10.1016/j.revmed.2024.11.004","url":null,"abstract":"<p><p>Thrombotic Thrombocytopenic Purpura (TTP) is a rare disease characterized by a severe deficiency of ADAMTS13, the specific protease that cleaves von Willebrand factor. The congenital form of TTP (cTTP) results from pathogenic variants of the ADAMTS13 gene. cTTP has two peaks of incidence: one in childhood and the other in adulthood, mainly in an obstetric context. The treatment of cTTP relies on ADAMTS13 replacement therapy for prophylaxis or on-demand, depending on the evolving nature of the disease, along with the management of cardiovascular risk factors. The historical treatment for cTTP has been substitution plasma therapy. Since 2017, a recombinant human ADAMTS13 protein (rhADAMTS13) has been evaluated in cTTP in international clinical trials. The rhADAMTS13 protein, intravenous infusion used for prophylaxis or on-demand, has been granted early access or compassionate use in cTTP in France in 2024. The objective of this document is to establish academic recommendations for the use of rhADAMTS13 in cTTP.</p>","PeriodicalId":94122,"journal":{"name":"La Revue de medecine interne","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142693994","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Fibrillary glomerulonephritis]. [纤维性肾小球肾炎]。
La Revue de medecine interne Pub Date : 2024-11-01 Epub Date: 2024-05-15 DOI: 10.1016/j.revmed.2024.05.005
C Dumas De La Roque, I Brocheriou, A Mirouse, P Cacoub, A Le Joncour
{"title":"[Fibrillary glomerulonephritis].","authors":"C Dumas De La Roque, I Brocheriou, A Mirouse, P Cacoub, A Le Joncour","doi":"10.1016/j.revmed.2024.05.005","DOIUrl":"10.1016/j.revmed.2024.05.005","url":null,"abstract":"<p><p>Fibrillary glomerulonephritis (FGN) is a glomerular disease described since 1977, with a prevalence in renal biopsies of less than 1%. It presents as renal failure, proteinuria, haematuria and hypertension in middle-aged adults. It is defined histologically, using light microscopy, which reveals organised deposits of fibrils measuring around 20nm, which are negative for Congo red staining. Electron microscopy, the first gold standard for diagnosis, has now been superseded by immunohistochemistry using the anti-DNAJB9 antibody. The discovery of this molecule has revolutionised the diagnosis of GNF, thanks to its excellent sensitivity and specificity (98% and 99% respectively). The association of GNF with hepatitis C virus, autoimmune diseases, neoplasia or haemopathy is debated. Renal prognosis is guarded, with 50% of patients progressing to end-stage renal failure within 2 to 4years of diagnosis. In the absence of randomised controlled trials, the recommended treatment is based on nephroprotective measures, corticosteroid therapy and possibly a second-line immunosuppressant such as rituximab. After renal transplantation, recovery or recurrence is possible. The pathophysiology of the disease is still poorly understood, and further studies are needed.</p>","PeriodicalId":94122,"journal":{"name":"La Revue de medecine interne","volume":" ","pages":"703-709"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140961326","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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