La Revue de medecine interne最新文献

{"title":"[Telomere biology disorder].","authors":"Quentin Philippot, Bruno Crestani, Ibrahima Ba, Hélène Morel, Flore Sicre de Fontbrune, Aurélie Plessier, Elodie Lainey, Caroline Kannengiesser, Raphael Borie","doi":"10.1016/j.revmed.2026.09.017","DOIUrl":"https://doi.org/10.1016/j.revmed.2026.09.017","url":null,"abstract":"<p><p>Telomere biology disorders (TBD) are a heterogeneous group of rare inherited diseases caused by pathogenic variants in genes involved in telomere maintenance. They represent the leading monogenic cause of familial pulmonary fibrosis and inherited bone marrow failure in adults. Clinical manifestations are highly variable and may involve the lungs, bone marrow, liver and mucocutaneous tissues, together with immunological, renal, gastrointestinal and skeletal abnormalities. Diagnosis relies on recognizing this multisystem phenotype, genetic testing of telomere-related genes and, in selected cases, telomere length measurement. Identifying a TBD has important therapeutic implications, particularly in interstitial lung disease, where it influences the use of immunosuppressive therapies, antifibrotic treatment and organ transplantation strategies. It also enables appropriate genetic counselling and screening of at-risk relatives. This review summarizes current knowledge regarding the pathophysiology, diagnostic approach, clinical spectrum and multidisciplinary management of telomere biology disorders, with a particular focus on adult patients.</p>","PeriodicalId":94122,"journal":{"name":"La Revue de medecine interne","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149279230","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}

{"title":"Autoimmune encephalitis and paraneoplastic neurological syndrome: A practical guide for clinicians.","authors":"Thomas Bonduelle, Frédéric Villega, Cécile Contin-Bordes, Gaël Galli, Mamy Ralazamahaleo, Noémie Gensous, Charline Sazio, Arnaud Gagnol, Ghislain Belliart-Guerin, Chloé Morando, Jérôme Aupy, Antoine Gradel","doi":"10.1016/j.revmed.2026.09.020","DOIUrl":"https://doi.org/10.1016/j.revmed.2026.09.020","url":null,"abstract":"<p><p>Autoimmune encephalitis and paraneoplastic neurological syndromes comprise a group of disorders affecting both the central and peripheral nervous systems, with an increasing incidence likely attributable to increased clinical awareness and continuous advances in diagnostic methods. These conditions are characterized by an aberrant immune response and often require the involvement of multiple specialties, including neurology, pediatrics, oncology, immunology, and intensive care medicine. In this review, we aimed to provide clinicians with essential knowledge for recognizing clinical syndromes suggestive of these entities, thereby facilitating the establishment of an appropriate diagnostic and therapeutic approach.</p>","PeriodicalId":94122,"journal":{"name":"La Revue de medecine interne","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149279186","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}

{"title":"[Soluble Interleukin-2 Receptor (sIL-2R): A sensitive biomarker for evaluating disease activity in sarcoidosis].","authors":"Valentine Pagis, Pascal Sève, Lorna Garnier, Claire Bulteau, Chloé Comarmond, Anthony Vanjak, Karine Champion, Ruxandra Burlacu, Amanda Lopes, William Bigot, Kladoum Nassarmadji, Stéphane Mouly, Damien Sène","doi":"10.1016/j.revmed.2026.09.012","DOIUrl":"https://doi.org/10.1016/j.revmed.2026.09.012","url":null,"abstract":"<p><strong>Background: </strong>Sarcoidosis is a systemic granulomatous disease with unpredictable evolution. Current biomarkers, including angiotensin-converting enzyme (ACE) and 1,25-OH vitamin D3, show limited accuracy. The soluble interleukin-2 receptor (sIL2R) reflects T-cell activation and may serve as a sensitive disease activity biomarker.</p><p><strong>Objective: </strong>To compare the diagnostic performance of sIL2R with ACE and 1,25-OH vitamin D3 for assessing sarcoidosis activity.</p><p><strong>Patients and methods: </strong>A bicentrique retrospective study was conducted from November 2019 to January 2022 including 103 patients with confirmed sarcoidosis (WASOG criteria). Disease activity was defined by new clinical manifestations or therapy escalation. Serum sIL2R, ACE and 1,25-OH vitamin D3 were compared between active and inactive forms using ROC analysis.</p><p><strong>Results: </strong>Among 103 patients (median age 51 years, 54.4% women), 60 (58%) had active disease. sIL2R levels were significantly higher in active patients (2096pg/mL vs 1337pg/mL; P<0.0001). sIL2R showed higher sensitivity (75%) than ACE (54%) and 1,25-OH vitamin D3 (51%) but lower specificity (55.8% vs 75.7% and 81.1%). The combination of sIL2R and 1,25-OH vitamin D3 increased specificity to 94.6% and positive predictive value to 91.3%.</p><p><strong>Conclusion: </strong>sIL2R is a sensitive and relevant biomarker for sarcoidosis activity assessment. Combined with 1,25-OH vitamin D3, it enhances diagnostic specificity and may guide disease monitoring.</p>","PeriodicalId":94122,"journal":{"name":"La Revue de medecine interne","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149279180","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}

{"title":"[Antinuclear antibodies of undetermined significance and the risk of progression to immune-mediated inflammatory diseases: An update].","authors":"Lena Levy, Christel Gérardin, Arthur Mageau, Karim Sacre","doi":"10.1016/j.revmed.2026.09.019","DOIUrl":"https://doi.org/10.1016/j.revmed.2026.09.019","url":null,"abstract":"<p><p>Antinuclear antibodies (ANAs) are key biological markers of autoimmunity which can appear many years before the onset of confirmed immune-mediated inflammatory diseases (IMIDs). However, the high prevalence of ANAs in the general population, particularly among women and older adults, contrasts with the low prevalence of IMIDs. While most individuals with ANAs do not develop IMIDs, they can nevertheless occur, typically within months or years of ANAs detection. Identifying individuals at risk of IMIDs would optimize clinically meaningful follow-up for early diagnosis and improve our understanding of the preclinical phase of IMIDs. This review aims to summarize knowledge regarding the clinical significance of ANAs detected in the absence of formally defined IMIDs.</p>","PeriodicalId":94122,"journal":{"name":"La Revue de medecine interne","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149248167","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}

{"title":"[Pulmonary infiltrates associated with chronic elevation of blood circulating monocytes].","authors":"R Batton, M Demeyere, L Chaloin, E L Veresezan, J Leclerc, B Gérard, S Dubois, G Sauvêtre","doi":"10.1016/j.revmed.2026.09.018","DOIUrl":"https://doi.org/10.1016/j.revmed.2026.09.018","url":null,"abstract":"<p><strong>Introduction: </strong>Chronic myelomonocytic leukemia (CMML) is a clonal myeloid neoplasm with myelodysplastic and myeloproliferative features. Although inflammatory and extramedullary manifestations occur, pulmonary involvement is rare. We describe steroid-responsive pulmonary and systemic inflammatory involvement revealing CMML.</p><p><strong>Case report: </strong>A 74-year-old man with a 3-year history of unclassified inflammatory polyarthritis presented with fever, hypoxemic respiratory failure, inflammatory wrist and ankle arthralgia, and pruritic maculopapular lesions. He required 5L/min oxygen. Laboratory studies showed CRP 216mg/L, hemoglobin 9.5g/dL, leukocytes 17.2G/L, and monocytosis 8G/L. Chest computed-tomography (CT) revealed a right lower-lobe mixed opacity, smooth interlobular septal thickening, and micronodules. Bronchoalveolar lavage was lymphocyte-predominant and sterile; antinuclear antibodies and anti-neutrophil cytoplasm antibodies were negative. Empirical piperacillin-tazobactam and diuretics did not improve inflammation or oxygen requirement. Skin biopsy showed an angiocentric infiltrate consistent with clonal monocytic infiltration. Bone marrow examination demonstrated dysmyelopoiesis, monocytic hyperplasia, and 11.5% blasts, confirming CMML. Sequencing with next generation sequencing identified DNMT3A, IDH2, SRSF2, RUNX1, and ASXL1 mutations. Prednisone 0.3mg/kg/day led to oxygen weaning, disappearance of fever, arthritis and rash, reduction in inflammatory markers and monocytosis and complete CT resolution of the interstitial lung disease within 7 days.</p><p><strong>Conclusion: </strong>CMML-associated inflammatory pulmonary disease should be considered in unexplained infiltrates in patients suspected with CMML or persistent monocytosis after exclusion of infection, overload, and autoimmune disease.</p>","PeriodicalId":94122,"journal":{"name":"La Revue de medecine interne","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149248225","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}

{"title":"Carcinomatous meningitis: Current insights into diagnosis, prognosis and management.","authors":"Matteo Gambaretti, Adrien Lavalley, Morgan Ollivier, Thomas Tourdias, Julien Engelhardt","doi":"10.1016/j.revmed.2026.09.016","DOIUrl":"https://doi.org/10.1016/j.revmed.2026.09.016","url":null,"abstract":"<p><p>Carcinomatous meningitis, or leptomeningeal metastasis, is a severe neurological complication of solid and haematological malignancies caused by dissemination of tumour cells within the leptomeninges and cerebrospinal fluid pathways. Clinical presentation is heterogeneous, including headache, intracranial hypertension, cranial nerve palsies or radiculopathy, which frequently leads to diagnostic delay. Diagnosis relies on converging clinical, radiological, and cerebrospinal fluid findings, with gadolinium-enhanced magnetic resonance imaging of the brain and spine and cerebrospinal fluid cytology remaining central despite imperfect sensitivity. Emerging tools, particularly cerebrospinal fluid circulating tumour cells and circulating tumour DNA, may improve early detection and molecular characterisation. Prognosis remains poor, with survival usually measured in months. Management should be individualised according to performance status, tumour subtype, and systemic disease control, and may combine symptomatic measures, radiotherapy, targeted systemic therapies, and, in selected patients, intrathecal chemotherapy. Early integration of palliative care remains a key component of management.</p>","PeriodicalId":94122,"journal":{"name":"La Revue de medecine interne","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149240968","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}

{"title":"Extracardiovascular immune-related adverse events in patients with suspected cardiac toxicity associated with immune checkpoint inhibitors.","authors":"François Fer, Francesco Cribari, Soledad Henriquez, Imen Hamdi, Agnès Lillo Le Louet, Christophe Caussin, Mariana Mirabel, Pierre Charles","doi":"10.1016/j.revmed.2026.08.008","DOIUrl":"https://doi.org/10.1016/j.revmed.2026.08.008","url":null,"abstract":"<p><strong>Background: </strong>Immune checkpoint inhibitors (ICIs) have transformed cancer therapy but may cause immune-related adverse events (iRAEs). Cardiovascular iRAEs, especially myocarditis, carry high morbidity and mortality. Extracardiovascular iRAEs are included as diagnostic criteria for myocarditis, yet their prevalence, spectrum, and clinical impact in patients with suspected cardiovascular iRAEs are poorly defined.</p><p><strong>Methods: </strong>We conducted a prospective, single-center observational study between March 2022 and December 2023. Consecutive patients referred to cardio-oncology for suspected ICI-related cardiovascular toxicity underwent systematic cardiovascular evaluation, internal medicine assessment, pharmacovigilance review, and multidisciplinary adjudication. Data included cardiovascular and extracardiovascular iRAEs, treatment decisions, and outcomes.</p><p><strong>Results: </strong>Among 208 patients enrolled (median age 60 years; 78% female), 206 completed follow-up. Cardiovascular iRAEs were confirmed in 108 patients, predominantly myocarditis (75%). Extracardiovascular iRAEs occurred in 32% of patients (n = 67; 97 events), most frequently endocrine (57.6%, mainly thyroid), followed by muscular and cutaneous events (each 9.3%). Most extracardiovascular iRAEs were CTCAE grade 2, while severe muscular or neurological toxicities, including myositis and myasthenia gravis, occurred in 1.4%. Myocarditis was more frequent in patients with extracardiovascular iRAEs (57% vs. 34%). In 18 cases, extracardiovascular iRAEs fulfilled IC-OS minor criteria, enabling a definite myocarditis diagnosis. ICIs were discontinued in 56% of patients, with extracardiovascular iRAEs contributing in 15%, and accounted for nearly one-third of indications for immunosuppressive therapy. Mortality was mainly cancer-related.</p><p><strong>Conclusions: </strong>In patients referred for suspected ICI-related cardiovascular toxicity, extracardiovascular iRAEs are frequent and clinically relevant. They contribute to myocarditis diagnosis and management, supporting systematic multidisciplinary cardiology-internal medicine evaluation.</p>","PeriodicalId":94122,"journal":{"name":"La Revue de medecine interne","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149208179","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}

{"title":"[Enteral nutrition and major neurocognitive disorders: For whom? When?]","authors":"Maria Dubos, Manuel Sanchez, Clément Lahaye","doi":"10.1016/j.revmed.2026.09.005","DOIUrl":"https://doi.org/10.1016/j.revmed.2026.09.005","url":null,"abstract":"<p><p>Malnutrition is a common condition in patients with dementia, especially in severe cases. It is associated with cognitive decline. Enteral nutrition (EN) should be considered when a high-calorie, high-protein oral diet fails and after a careful assessment of the benefit-risk balance. In the presence of dementia, the initiation of EN should be a multidisciplinary decision. Guidelines from scientist society recommend reserving EN for patients with mild to moderate cognitive disorders for a short period to manage a reversible acute episode. In individuals with severe dementia, no benefit on survival or quality of life has been demonstrated, but rather increased mortality. Oral feeding should then be favored, with individualized adaptations such as a supportive environment, ergonomic adjustments, human assistance, proper oral hygiene. Providing regular information and support to caregivers is indispensable to explain the prognosis.</p>","PeriodicalId":94122,"journal":{"name":"La Revue de medecine interne","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149187191","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}

{"title":"[Reducing CO₂ emissions from hospital consultations: Potential and limitations of teleconsultation in internal medicine].","authors":"Joris Galland, Thomas Rogier, François Dhelft, Adrien Bour, Emilie Forestier, Antoine Gbessemehlan, Mathilde Autheaume","doi":"10.1016/j.revmed.2026.09.011","DOIUrl":"https://doi.org/10.1016/j.revmed.2026.09.011","url":null,"abstract":"<p><strong>Background: </strong>The healthcare sector accounts for approximately 8% of France's greenhouse gas emissions, a share of which is attributable to patient travel. Teleconsultation, whose expansion was accelerated by the COVID-19 pandemic, may reduce the carbon footprint of care pathways. The aim of this study was to quantify CO₂ emissions associated with internal medicine outpatient consultations at a hospital and to estimate the reduction potential linked to teleconsultation.</p><p><strong>Methods: </strong>An observational study was conducted at the Bourg-en-Bresse General Hospital, including 301 patients seen in outpatient consultation between March and May 2025. Data were collected through patient and physician questionnaires. Travelrelated CO₂ emissions were estimated from home-to-hospital distances. Eligibility for teleconsultation was defined by medical consensus.</p><p><strong>Results: </strong>The mean patient age was 58.5 years, and 62.6% were female. The median round-trip travel distance was 37km, and 88.7% of patients travelled by private car. Mean emissions were 6.6kgCO₂eq per consultation. Teleconsultation was deemed medically feasible for 42.8% of patients. Among these, emissions decreased from 5.83 to 1.41kgCO₂eq, representing a 75.4% reduction; however, only 11.8% of patients met all technical and acceptability criteria required to benefit from it.</p><p><strong>Conclusion: </strong>Teleconsultation enables a substantial reduction in CO₂ emissions, yet its real-world impact remains constrained by technical, human, and organisational barriers. Targeted strategies are needed to optimise its implementation.</p>","PeriodicalId":94122,"journal":{"name":"La Revue de medecine interne","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149148452","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}

{"title":"[Hiccups in adults: Pathophysiology, diagnostic approach, and management].","authors":"Mickael Aubignat","doi":"10.1016/j.revmed.2026.06.010","DOIUrl":"https://doi.org/10.1016/j.revmed.2026.06.010","url":null,"abstract":"<p><p>Chronic hiccups, defined as lasting more than 48hours, represent an underestimated clinical entity with potentially severe impacts on patients' quality of life. The pathophysiology involves a reflex arc comprising the phrenic and vagus nerves, integrated at the pontomedullary level. Recent advances highlight the role of a central pattern generator and neurotransmitter systems (GABA, dopamine, serotonin) in the genesis and perpetuation of hiccups. Epidemiological data reveal a striking male predominance (82-92% of cases), with an organic cause identified in over 90% of men. Etiologies are dominated by gastrointestinal causes, particularly gastroesophageal reflux disease (up to 80% of cases), followed by central neurological causes including Wallenberg syndrome. The diagnostic approach relies on targeted history and physical examination, complemented by laboratory tests, chest radiography, upper gastrointestinal endoscopy, and brain imaging when clinically indicated. Therapeutic management follows a stepwise approach: etiological treatment, proton pump inhibitors as first-line therapy, followed by baclofen or gabapentin. Refractory cases may require neuroleptics or interventional techniques (phrenic nerve block, acupuncture). Despite the absence of formal guidelines, this review proposes a pragmatic diagnostic and therapeutic algorithm based on current literature evidence.</p>","PeriodicalId":94122,"journal":{"name":"La Revue de medecine interne","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149149149","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}