Pierre Quartier, Alexandre Belot, Sylvain Breton, Aurélia Carbasse, Valérie Devauchelle, Bruno Fautrel, Sophie Georgin-Lavialle, Anne-Laure Jurquet, Isabelle Koné-Paut, Irène Lemelle, Ulrich Meinzer, Isabelle Melki, Pascal Pillet, Héloïse Reumaux, Linda Rossi-Semerano, Florence Uettwiller
{"title":"French protocol for the diagnosis and management of juvenile idiopathic arthritis including pediatric-onset Still's disease.","authors":"Pierre Quartier, Alexandre Belot, Sylvain Breton, Aurélia Carbasse, Valérie Devauchelle, Bruno Fautrel, Sophie Georgin-Lavialle, Anne-Laure Jurquet, Isabelle Koné-Paut, Irène Lemelle, Ulrich Meinzer, Isabelle Melki, Pascal Pillet, Héloïse Reumaux, Linda Rossi-Semerano, Florence Uettwiller","doi":"10.1016/j.revmed.2025.06.001","DOIUrl":"10.1016/j.revmed.2025.06.001","url":null,"abstract":"<p><p>Juvenile idiopathic arthritis (JIA) is characterised by arthritis onset before the age of 16, persisting for at least 6weeks without a known cause. Symptoms include joint swelling, inflammatory pain (worse at night and in the morning), or also back, heel, or buttock pain. Timely diagnosis and referral to a paediatric rheumatologist are crucial to reduce errors, invasive procedures, and long-term complications. Around 5000 children under 16 are affected by JIA in France. The current international classification recognises 7 subgroups: the systemic form, oligoarthritis, polyarthritis without rheumatoid factor, polyarthritis with rheumatoid factor (juvenile rheumatoid arthritis), enthesitis associated with JIA (juvenile spondyloarthropathy), JIA associated with psoriasis and undifferentiated JIA. A new classification divides JIA into 5 groups: the systemic form, early-onset oligo- and polyarthritis with anti-nuclear antibodies (associated with a risk of chronic anterior uveitis), polyarthritis with rheumatoid factor, juvenile spondyloarthropathy and non-groupable forms. JIA management involves a multidisciplinary team led by a paediatric rheumatologist, using targeted therapies (biologics, small molecules) and numerous health professionals (physiotherapist, occupational therapist, etc.), improving overall outcomes. Physicians (paediatricians or general practitioners) play a vital role in overall management, ensuring treatment compliance, monitoring effectiveness, and managing infection risks. This includes updating vaccination schedules and addressing febrile episodes. We present recent international recommendations including the \"treat-to-target\" approach, consisting in setting precise objectives at the beginning and during the evolution, which involves regularly assessing the patient's situation to adapt treatments, control inflammation and disease complications, limit the toxicity of treatments. This strategy aims to achieve, ideally in a few months an inactive disease or complete remission. Regarding systemic JIA (or pediatric Still's disease), we pay attention to particularly severe clinical forms in very young children, which may be life-threatening by major activation of the immune system (macrophage activation syndrome) or secondary pulmonary involvement. For non-systemic forms, i.e. oligoarthritis, polyarthritis, enthesitis related JIA (or juvenile spondylarthropathies) and JIA associated with psoriasis, we specify the state of current knowledge and uncertainties regarding prognosis and therapeutic choices.</p>","PeriodicalId":94122,"journal":{"name":"La Revue de medecine interne","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144340717","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":"[Hydroxychloroquine in systemic lupus erythematosus: Key updates].","authors":"Ludovic Trefond","doi":"10.1016/j.revmed.2025.05.011","DOIUrl":"https://doi.org/10.1016/j.revmed.2025.05.011","url":null,"abstract":"<p><p>Hydroxychloroquine (HCQ) is a cornerstone treatment for systemic lupus erythematosus (SLE). Despite its long-standing use, recent studies have refined recommendations on dosage, toxicity, adherence, and benefits. The 2023 EULAR and 2024 KDIGO guidelines recommend a dose of 5mg/kg/day, with adjustments for renal impairment. However, reducing HCQ dose to≤5mg/kg/day increases the risk of moderate-to-severe flares (OR=6.04 [1.71-21.3]) and lupus-related hospitalizations (aOR=4.2 [1.45-12.19]). The prevalence of HCQ-related retinopathy reaches 8.6-11.5% after 15 years of use. Established risk factors include high daily doses, prolonged treatment, renal impairment, tamoxifen use, and pre-existing maculopathy. Recent studies have identified additional risks, including female sex (HR=3.83 [95% CI, 1.86-7.89]), darker skin phototypes (OR=5.5 [1.4-26.5]), serotonin-norepinephrine reuptake inhibitors (OR=6.6 [1.2-40.9]), an [HCQ]/[DCQ] ratio<7.2 (OR=8.4 [2.7-30.8]), and antiphospholipid syndrome (OR=8.9 [2.2-41.4]). The 2024 PNDS recommends annual ophthalmologic screening after five years of treatment. HCQ withdrawal significantly increases relapse risk, with severe flares occurring up to six times more frequently. A study on patients discontinuing HCQ due to retinopathy found a higher relapse rate compared to adherent patients (31.3 vs. 12.5%, OR=3.1 [1.2-8.2]). An algorithm for interpreting HCQ blood levels has been proposed, identifying levels below 200ng/mL as markers of poor adherence, correlating with an 80% missed-dose rate. Moreover, several studies confirm that HCQ is safe during pregnancy and does not increase the risk of congenital malformations. Finally, HCQ has been associated with a reduced risk of cardiovascular events in SLE. A study involving 52,883 patients found that HCQ use significantly lowered the incidence of cardiovascular events (OR=0.63 [0.57-0.69]). Recent evidence reinforces HCQ's essential role in SLE. Careful dose management, adherence monitoring, and ophthalmologic screening are crucial for optimizing treatment outcomes.</p>","PeriodicalId":94122,"journal":{"name":"La Revue de medecine interne","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144251658","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}
L Frisson, F Aboubakar, G Zorzi, V Roelants, L Pothen, L Bamps, H Yildiz, A Benyamine
{"title":"[Fever in a 74-year-old man].","authors":"L Frisson, F Aboubakar, G Zorzi, V Roelants, L Pothen, L Bamps, H Yildiz, A Benyamine","doi":"10.1016/j.revmed.2025.05.014","DOIUrl":"https://doi.org/10.1016/j.revmed.2025.05.014","url":null,"abstract":"","PeriodicalId":94122,"journal":{"name":"La Revue de medecine interne","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144201192","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}
Khaoula Boumeriem, Imrani Kaoutar, Ait Belhaj El Mahdi, Moatassim Billah Nabil, Nassar Itimad
{"title":"[Azygos continuation of the inferior vena cava associated with \"H syndrome\"].","authors":"Khaoula Boumeriem, Imrani Kaoutar, Ait Belhaj El Mahdi, Moatassim Billah Nabil, Nassar Itimad","doi":"10.1016/j.revmed.2025.05.013","DOIUrl":"https://doi.org/10.1016/j.revmed.2025.05.013","url":null,"abstract":"<p><strong>Introduction: </strong>The syndrome H is a rare autosomal recessive genetic disorder first described in 2008, caused by SLC29A3 gene mutations. It presents with variable cutaneous, joint, auditory, vascular, and hematologic features.</p><p><strong>Observation: </strong>A 24-year-old man with recently diagnosed syndrome H presented with hyperpigmented patches on the lower abdomen and legs, sparing the joints, and splayed toe deformities. CT imaging revealed agenesis of the hepatic segment of the inferior vena cava (IVC) with a left-sided aberrant IVC draining via the azygos system into the superior vena cava. Inguinal lymphadenopathy and mild hepatomegaly were also noted. Lab results were normal. Skin biopsy confirmed dermal fibrosis with perivascular infiltrate.</p><p><strong>Conclusion: </strong>This case illustrates the clinical variability of the syndrome H and the value of imaging in detecting rare vascular malformations such as IVC interruption, reported in only two other cases. Management is symptomatic, with a multidisciplinary approach and genetic counseling.</p>","PeriodicalId":94122,"journal":{"name":"La Revue de medecine interne","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144228008","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}
P Mertz, L Savey, M Delplanque, P Belamich, C Bayado, V Hentgen, S Georgin-Lavialle
{"title":"What do patients with familial Mediterranean fever and the doctors who prescribe it know about colchicine? Results of a national survey of 255 patients and 203 doctors in France.","authors":"P Mertz, L Savey, M Delplanque, P Belamich, C Bayado, V Hentgen, S Georgin-Lavialle","doi":"10.1016/j.revmed.2025.05.009","DOIUrl":"https://doi.org/10.1016/j.revmed.2025.05.009","url":null,"abstract":"","PeriodicalId":94122,"journal":{"name":"La Revue de medecine interne","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144176253","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}
Martin Michaud, Wladimir Mauhin, Thomas Villeneuve, Olivier Lidove
{"title":"[Acid sphingomyelinase deficiency: A review].","authors":"Martin Michaud, Wladimir Mauhin, Thomas Villeneuve, Olivier Lidove","doi":"10.1016/j.revmed.2025.03.425","DOIUrl":"https://doi.org/10.1016/j.revmed.2025.03.425","url":null,"abstract":"<p><p>Acid sphingomyelinase deficiency, formerly known as Niemann-Pick disease types B, A/B, and B, is a rare genetic disorder. It is an inherited autosomal recessive disease, linked to mutations in the SMPD1 gene. It is a lysosomal storage disease that leads to the accumulation of sphingomyelin mainly in macrophages, resulting in a multisystemic phenotype, primarily manifesting as hepatosplenomegaly and pulmonary involvement. The central nervous system may be affected, depending on the phenotype. Indeed, there is a phenotypic continuum among the three main forms that are distinguished: a chronic visceral form (formerly known as Niemann-Pick disease type B), a chronic neurovisceral form (intermediate form formerly known as Niemann-Pick disease type A/B), and an infantile neurovisceral form (formerly known as Niemann-Pick disease type A). The estimated overall prevalence is from 1 in 100,000 to 1 in 1,000,000 births. Clinical manifestations, as well as the age of onset of symptoms and/or diagnosis, vary depending on the form. The rarity of the disease and its nonspecific symptoms explain the diagnostic delay or failure to recognize the disease. Knowing and recognizing this disease is important, especially since there is an effective specific treatment through enzyme replacement therapy. In this article, we describe the clinical manifestations of acid sphingomyelinase deficiency, to understand when to suspect it, how to confirm it, and how to manage it.</p>","PeriodicalId":94122,"journal":{"name":"La Revue de medecine interne","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144145280","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":"[From endemic to pandemic Mpox virus infection].","authors":"Alexandre Robin, Yasmine Abi Aad, Nadia Valin, Romuald Cruchet, Pauline Naudion, Thibault Chiarabini, Quentin Richier","doi":"10.1016/j.revmed.2025.05.008","DOIUrl":"https://doi.org/10.1016/j.revmed.2025.05.008","url":null,"abstract":"<p><p>The Mpox virus is an Orthopoxvirus that typically causes benign pustular skin lesions, but can also lead to rare cases of invasive disease. In 2022, clade IIb of this zoonotic virus, endemic to West and Central Africa, spread globally, resulting in 99,176 cases across 116 countries. In 2024, a rapid surge in clade Ib infections in Central Africa, followed by the first European cases - most notably in France on January 6, 2025 - raised concerns about the risk of a new pandemic outbreak. This review article aims to summarize current knowledge on Mpox virus infection, providing insights that may prove valuable in the event of a confirmed pandemic.</p>","PeriodicalId":94122,"journal":{"name":"La Revue de medecine interne","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144145288","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":"[Initial management of acute leukemia and its complications].","authors":"Giulia Schiavini, Amandine Ségot, Gerasimos Tsilimidos, Vasiliki Papadopoulou, Sabine Blum","doi":"10.1016/j.revmed.2025.04.025","DOIUrl":"https://doi.org/10.1016/j.revmed.2025.04.025","url":null,"abstract":"<p><p>Acute leukemias are rare diseases requiring emergency specialized hematological care. However, other specialists may be involved: general practitioners, emergency physicians, internists and intensivists most often. The initial phase of the management of acute leukemia can be marked by the occurrence of complications with a significant impact on morbidity and mortality. The aim of this article is to guide the clinician when facing a suspected acute leukemia for the diagnosis and management of complications that may occur in the first hours. The article reviews the initial assessment, the diagnostic approach and the management of the initial complications of acute leukemia, such as DIC, tumor lysis syndrome, leukostasis syndrome and febrile agranulocytosis, whose outcome is fundamental for the prognosis.</p>","PeriodicalId":94122,"journal":{"name":"La Revue de medecine interne","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144087130","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}
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
