Joint Bone Spine最新文献

{"title":"Characteristics and outcomes of adult patients with familial Mediterranean fever: Comparison of patients with one versus two pathogenic exon 10 MEFV mutations","authors":"Anaël Dumont ,&nbsp;Hélène Vergneault ,&nbsp;Samuel Ardois ,&nbsp;Guilaine Boursier ,&nbsp;Carole Lacout ,&nbsp;Zohra Aknouche ,&nbsp;Achille Aouba ,&nbsp;Laurence Cuisset ,&nbsp;Gilles Grateau ,&nbsp;Léa Savey ,&nbsp;Sophie Georgin-Lavialle","doi":"10.1016/j.jbspin.2025.105850","DOIUrl":"10.1016/j.jbspin.2025.105850","url":null,"abstract":"<div><h3>Objective</h3><div>To describe the main features and outcomes of a large cohort of adult familial Mediterranean fever (FMF) patients with one pathogenic <em>MEFV</em> mutations and compare them to FMF patients displaying 2 pathogenic <em>MEFV</em> mutations.</div></div><div><h3>Methods</h3><div>In a retrospective single-referential French center cohort of 581 patients with FMF, 178 FMF patients with one pathogenic mutation were retrieved and compared to 403 patients with 2 pathogenic <em>MEFV</em> mutations. The diagnosis of FMF was based on the Eurofever/PRINTO classification criteria for all patients, and they had all been sequenced for <em>MEFV</em>. Patients with M694<!--> <!-->V/E148Q genotype were also compared to M694<!--> <!-->V/WT patients.</div></div><div><h3>Results</h3><div>Compared to FMF patients with 2 pathogenic <em>MEFV</em> mutations, patients with one pathogenic mutation showed significantly higher age at diagnosis and at disease onset (25 vs 10<!--> <!-->years and 12 vs 5<!--> <!-->years, <em>P</em> <!-->&lt;<!--> <!-->0.001, respectively), higher personal history (21% vs 5%, <em>P</em> <!-->&lt;<!--> <!-->0.001) or familial history (13% vs 5%, <em>P</em> <!-->=<!--> <!-->0.001) of recurrent aphthous stomatitis (RAS) and higher body mass index (BMI) (24 vs 23<!--> <!-->kg/m², <em>P</em> <!-->&lt;<!--> <!-->0.05). Conversely, patients with one mutation showed no AA amyloidosis (0 vs 6%, <em>P</em> <!-->=<!--> <!-->0.001) and lower colchicine dosage (<em>P</em> <!-->&lt;<!--> <!-->0.001) than patients with two pathogenic <em>MEFV</em> mutations. These differences remained significant after adjustments for age at disease onset (beginning in childhood or adulthood). No clinical difference was found between patients with M694V/E148Q and M694V/WT.</div></div><div><h3>Conclusion</h3><div>Adult FMF patients with a single pathogenic <em>MEFV</em> mutation display specific clinical features as well as different evolution compared to patients with 2 pathogenic <em>MEFV</em> mutations.</div></div>","PeriodicalId":54902,"journal":{"name":"Joint Bone Spine","volume":"92 4","pages":"Article 105850"},"PeriodicalIF":3.8,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143075692","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Improvement of rhizarthrosis pain management with the infiltration of hyaluronic acid and corticosteroids versus corticosteroids alone","authors":"Grégoire Cormier ,&nbsp;Amélie Denis ,&nbsp;Charles Leske ,&nbsp;Stéphane Varin ,&nbsp;Jérôme Dimet ,&nbsp;Lucie Planche ,&nbsp;Benoit Le Goff","doi":"10.1016/j.jbspin.2025.105849","DOIUrl":"10.1016/j.jbspin.2025.105849","url":null,"abstract":"<div><h3>Objectives</h3><div>The clinical management of rhizarthrosis relies on several pharmacological approaches, demonstrating variable efficacy. The present study aimed at assessing the potential benefit of the combined infiltration of corticosteroids and hyaluronic acid to reduce trapeziometacarpal osteoarthrisis pain at three months, as compared to the administration of corticosteroids alone.</div></div><div><h3>Methods</h3><div>We conducted a single-blind trial with two parallel groups and blinded evaluation. Eligible patients (<em>n</em> <!-->=<!--> <!-->150) were randomly assigned to receive hyaluronic acid and corticosteroid (<em>n</em> <!-->=<!--> <!-->74) or saline and corticosteroid infiltrations (<em>n</em> <!-->=<!--> <!-->76. Pain was evaluated one, three, six or twelve months (M1, M3, M6, M12) after infiltration.</div></div><div><h3>Results</h3><div>In total, 149 patients received the injection (mean age 62<!--> <!-->years old; 83% females). When looking at the primary end point (M3), reduction of pain during activity was greater in the hyaluronic acid<!--> <!-->+<!--> <!-->corticosteroid group, as compared to the corticosteroids<!--> <!-->+<!--> <!-->placebo (difference −1.1 on a 0–10 points visual analogue scale, 95% confidence interval [−1.9; −0.2], <em>P</em> <!-->=<!--> <!-->0.012). For the secondary end points (visual analogue scores at rest and during activity at M1, M6 and M12), improvements were observed, although not statistically significant (except at M1). Finally, grip and opposition strength remained unchanged between groups along the follow-up.</div></div><div><h3>Conclusions</h3><div>In patients with painful rhizarthrosis, the infiltrations of hyaluronic acid and corticosteroids demonstrate better efficacy in reducing pain during activity 3<!--> <!-->months after intervention, compared to injections with only corticosteroids. The present study brings new arguments in favour of the combination of these two drugs for the clinical management of trapeziometacarpal osteoarthrisis.</div></div>","PeriodicalId":54902,"journal":{"name":"Joint Bone Spine","volume":"92 4","pages":"Article 105849"},"PeriodicalIF":3.8,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143075702","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neuralgic amyotrophy of Parsonage and Turner in daily practice: More often mononeuropathic than previously assumed","authors":"Paul Arnolfo ,&nbsp;Yann Péréon ,&nbsp;Jean-Marie Berthelot","doi":"10.1016/j.jbspin.2025.105846","DOIUrl":"10.1016/j.jbspin.2025.105846","url":null,"abstract":"","PeriodicalId":54902,"journal":{"name":"Joint Bone Spine","volume":"92 4","pages":"Article 105846"},"PeriodicalIF":3.8,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143076109","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Number of patients patients tested and number of patients diagnosed with Whipple's disease over the time and by specialty","authors":"Julie Langlois,&nbsp;Sacha Schutz,&nbsp;Alain Saraux","doi":"10.1016/j.jbspin.2025.105848","DOIUrl":"10.1016/j.jbspin.2025.105848","url":null,"abstract":"","PeriodicalId":54902,"journal":{"name":"Joint Bone Spine","volume":"92 3","pages":"Article 105848"},"PeriodicalIF":3.8,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143076185","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"From childhood to adulthood: The long-term impact of progressive pseudorheumatoid dysplasia","authors":"Hazal Sevinç,&nbsp;Berkay Yalçınkaya,&nbsp;Ahmet Furkan Çolak,&nbsp;Alp Çetin","doi":"10.1016/j.jbspin.2025.105845","DOIUrl":"10.1016/j.jbspin.2025.105845","url":null,"abstract":"","PeriodicalId":54902,"journal":{"name":"Joint Bone Spine","volume":"92 3","pages":"Article 105845"},"PeriodicalIF":3.8,"publicationDate":"2025-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143075693","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hypertrophic osteoarthropathy","authors":"Victoire Roblot ,&nbsp;Domitille Renard ,&nbsp;Sylvie Guan ,&nbsp;Valérie Bousson","doi":"10.1016/j.jbspin.2025.105844","DOIUrl":"10.1016/j.jbspin.2025.105844","url":null,"abstract":"","PeriodicalId":54902,"journal":{"name":"Joint Bone Spine","volume":"92 3","pages":"Article 105844"},"PeriodicalIF":3.8,"publicationDate":"2025-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143075699","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Managing the disease, managing the patient: Towards a comprehensive diagnostic appraoch in psoriatic arthritis and spondyloarthritis","authors":"Rik J. Lories","doi":"10.1016/j.jbspin.2025.105843","DOIUrl":"10.1016/j.jbspin.2025.105843","url":null,"abstract":"","PeriodicalId":54902,"journal":{"name":"Joint Bone Spine","volume":"92 3","pages":"Article 105843"},"PeriodicalIF":3.8,"publicationDate":"2025-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143075706","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Defining a genetic background for bamboo spine and axial spondyloarthritis","authors":"Şeyma Çolakoğlu Özkaya ,&nbsp;Kerem Abacar ,&nbsp;Yunus Emre Dilek ,&nbsp;Günseli Bayram Akçapınar ,&nbsp;Mehmet Pamir Atagündüz ,&nbsp;Can Erzik","doi":"10.1016/j.jbspin.2025.105842","DOIUrl":"10.1016/j.jbspin.2025.105842","url":null,"abstract":"<div><h3>Objective</h3><div>Bamboo spine is the most severe complication of axial spondyloarthritis (AxSpA). This study aims to address whether haplotypes of endoplasmic reticulum aminopeptidase (<em>ERAP)1</em> and <em>ERAP2</em> single nucleotide polymorphisms (SNPs), previously associated with AxSpA, are associated with the development of bamboo spine in an AxSpA cohort.</div></div><div><h3>Methods</h3><div>The study included 192 patients with AxSpA followed in MARS (MARmara Spondyloarthritis) clinic and fulfilling the modified New York criteria. <em>ERAP1</em> and <em>ERAP2</em> polymorphisms were determined by real-time PCR on genomic DNA using the TaqMan SNP Genotyping Assay for SNPs rs72773968, rs3734016, rs26653, rs26618, rs27895, rs2287987, rs30187, rs10050860, rs17482078, rs27044, rs2549782, rs2248374. The HLA-B genotypes were assessed using the LABTypeTM SSO method.</div></div><div><h3>Results</h3><div>Male gender (<em>P</em> <!-->&lt;<!--> <!-->0.001) and HLA-B27 positivity (<em>P</em> <!-->&lt;<!--> <!-->0.05) were associated with an increased risk of developing a bamboo spine, and peripheral arthritis was significantly less prevalent in AxSpA patients with a bamboo spine (<em>P</em> <!-->&lt;<!--> <!-->0.05). Of the ten ERAP1 haplotypes, haplotype 3 was significantly more prevalent in AxSpA patients with bamboo spine adjusted for HLA-B27 status (<em>P</em> <!-->&lt;<!--> <!-->0.05). Haplotype 3 and -6 were significantly more prevalent exclusively in HLA-B27 (+) patients (<em>P</em> <!-->&lt;<!--> <!-->0.05). Allele frequencies and genotype distributions of single <em>ERAP1</em> SNPs alone were not significantly different between AxSpA patients with and without bamboo spines. There was no association between bamboo spine development and <em>ERAP2</em> SNPs.</div></div><div><h3>Conclusions</h3><div>Our results indicate that HLA-B27 positivity, <em>ERAP1</em> haplotype 3 and -6, and being male confer a significant risk for developing bamboo spine. Whether the association of haplotype 3 and -6 with bamboo spine is confined only to our Turkish patient cohort may deserve attention in other ethnicities.</div></div>","PeriodicalId":54902,"journal":{"name":"Joint Bone Spine","volume":"92 3","pages":"Article 105842"},"PeriodicalIF":3.8,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143016715","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Corrigendum to “Is the microRNA-146a (rs2910164) polymorphism associated with rheumatoid arthritis? Association of microRNA-146a (rs2910164) polymorphism and rheumatoid arthritis could depend on gender” [Joint Bone Spine 2015; 82 :166–71]","authors":"Xindie Zhou ,&nbsp;Jinlong Zhu ,&nbsp;Hui Zhang ,&nbsp;Guoxin Zhou ,&nbsp;Yong Huang ,&nbsp;Ruiping Liu","doi":"10.1016/j.jbspin.2024.105808","DOIUrl":"10.1016/j.jbspin.2024.105808","url":null,"abstract":"","PeriodicalId":54902,"journal":{"name":"Joint Bone Spine","volume":"92 1","pages":"Article 105808"},"PeriodicalIF":3.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142900526","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Detecting new erosions in rheumatoid arthritis over one year – Radiography and high-resolution computed tomography of finger joints","authors":"Josephine Therkildsen ,&nbsp;Rasmus Klose-Jensen ,&nbsp;Mathias Hänel ,&nbsp;Bente L. Langdahl ,&nbsp;Jesper S. Thomsen ,&nbsp;Sarah L. Manske ,&nbsp;Kresten K. Keller ,&nbsp;Ellen-Margrethe Hauge","doi":"10.1016/j.jbspin.2024.105812","DOIUrl":"10.1016/j.jbspin.2024.105812","url":null,"abstract":"<div><h3>Objective</h3><div>To compare the number of new erosions in two metacarpophalangeal (MCP) joints over one year assessed by high-resolution peripheral quantitative computed tomography (HR-pQCT) and conventional radiography (CR). Furthermore, to estimate the diagnostic accuracy of erosive progression by CR with HR-pQCT as the reference standard.</div></div><div><h3>Methods</h3><div>Paired sets of image data were available from patients with RA (<em>n</em> <!-->=<!--> <!-->310), who underwent HR-pQCT and CR, including the 2nd and 3rd MCP joints only of the dominant hand at baseline and at the one-year follow-up. Erosion number was determined using HR-pQCT and CR. Erosive volume was estimated from segmented HR-pQCT images, and erosion scores were obtained by the Sharp/van der Heijde method from CR. Erosive progression was defined as an increase in total erosion number or a study-specified increase in total erosive volume or total erosion score.</div></div><div><h3>Results</h3><div>At baseline, 250 erosions were identified by CR compared to 1864 erosions by HR-pQCT. After one year, 3 new erosions were detected by CR compared to 66 new erosions by HR-pQCT. Erosive progression was identified in 40 patients using HR-pQCT and in 3 patients using CR. With HR-pQCT as reference, CR had a sensitivity of 2.5% (95% CI: 0.1–13.2%) and a specificity of 99.3% (95% CI: 97.3–99.9%) for detecting erosive progression.</div></div><div><h3>Conclusion</h3><div>HR-pQCT identified more than 20 times the number of new erosions, and more than 10 times as many patients with erosive progression than CR. HR-pQCT is a sensitive tool for monitoring new erosions and erosive progression over one year in RA.</div></div>","PeriodicalId":54902,"journal":{"name":"Joint Bone Spine","volume":"92 1","pages":"Article 105812"},"PeriodicalIF":3.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142640306","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}