Joint Bone Spine最新文献

{"title":"Identification of rare genetic variants in familial forms and unrelated cases of bisphosphonates-associated atypical femur fracture","authors":"Laëtitia Michou ,&nbsp;Jacques P. Brown ,&nbsp;Laurie Champagne ,&nbsp;Maxime Vallée ,&nbsp;Frédéric Fournier ,&nbsp;Edith Gagnon ,&nbsp;Arnaud Droit ,&nbsp;Suzanne N. Morin","doi":"10.1016/j.jbspin.2025.105994","DOIUrl":"10.1016/j.jbspin.2025.105994","url":null,"abstract":"<div><h3>Objectives</h3><div>We performed next generation sequencing in two affected-sibling pairs of atypical femur fractures (AFF) and in unrelated cases of AFF to identify genetic variants of bisphosphonates (BP)-associated AFF.</div></div><div><h3>Methods</h3><div>A whole exome sequencing (WES) was performed in two sisters with BP-associated AFF and their healthy brother naïve to BP treatment (family A). After bioinformatic filtering, the intrafamilial segregation was analysed. Then, we performed targeted sequencing of 62 genes, including 36 genes containing variants predicted to be damaging and segregating with the phenotype in both sisters of the family A, and 26 candidate genes for osteogenesis imperfecta (OI), hypophosphatasia and the mevalonate pathway. The targeted sequencing was performed on the family A, and on 47 unrelated participants and another affected sibling pair (family B) from the Quebec AFF Registry. 100 healthy controls recruited in same geographic area than patients were genotyped for rare variants.</div></div><div><h3>Results</h3><div>Sixty-three rare and deleterious variants were detected by the WES and shared by the two affected sisters of the family A. Among those variants, a rare likely pathogenic variant (p.Leu3fs) of the <em>WNT1</em> gene, already linked to OI and early onset osteoporosis, was also shared by a third individual, an unrelated case with BP-associated AFF. The pair of siblings of family B carried a novel variant (p.Glu1323fs) in the <em>COL1A2</em> gene, linked to OI. One unrelated case had a novel variant in the <em>FDFT1</em> gene, involved in the mevalonate pathway. These rare variants were not found in 100 healthy controls.</div></div><div><h3>Conclusion</h3><div>Some BP-associated AFFs may occur in the setting of clinically undiagnosed underlying genetic disorders predisposing to osteoporosis and fractures, such as OI.</div></div>","PeriodicalId":54902,"journal":{"name":"Joint Bone Spine","volume":"93 2","pages":"Article 105994"},"PeriodicalIF":4.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145369367","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":"Epidemiology, outcomes, and expenditures of hospitalized patients with systemic sclerosis: Insights from the U.S. National Inpatient Sample","authors":"Patompong Ungprasert ,&nbsp;Paul T. Kroner","doi":"10.1016/j.jbspin.2025.105985","DOIUrl":"10.1016/j.jbspin.2025.105985","url":null,"abstract":"<div><h3>Objectives</h3><div>The inpatient epidemiology, morbidity, mortality, and healthcare expenditures associated with systemic sclerosis (SSc) remain poorly characterized. This study utilizes a national inpatient database to provide a comprehensive assessment of these parameters.</div></div><div><h3>Methods</h3><div>We identified adult patients with SSc from the 2021 National Inpatient Sample (NIS) using ICD-10-CM codes. The NIS, the largest publicly available all-payer inpatient healthcare database in the U.S., represents data from over 4000 non-federal acute care hospitals. A matched comparator group without SSc was created to serve as comparators. Extracted data included demographics, primary admission diagnoses, length of stay (LOS), in-hospital mortality and morbidity, comorbidities, and healthcare expenditures. Multivariable analyses were adjusted for age, sex, race/ethnicity, Charlson Comorbidity Index, payer type, median income, and hospital characteristics.</div></div><div><h3>Results</h3><div>The inpatient prevalence of SSc was 86.7 per 100,000 admissions. The most common primary diagnoses among SSc hospitalizations were sepsis (22.7%), heart failure with hypertension (14.4%), and COVID-19 (11.5%). The cohort was predominantly female (84.2%) with a mean age of 63.5 years. Compared to non-SSc admissions, SSc hospitalizations were associated with significantly longer LOS (mean difference 0.7 days; 95% CI: 0.5–0.9) and greater healthcare costs, including an adjusted mean increase of $3277 in hospital costs (95% CI: $2051–$4504) and $11,801 in total charges (95% CI: $6485–$17,116). SSc was also associated with increased odds of in-hospital mortality (adjusted OR 1.42; 95% CI: 1.26–1.61), shock (aOR 1.30; 95% CI: 1.17–1.44), systemic inflammatory response syndrome (aOR 1.32; 95% CI: 1.01–1.74), and acute respiratory distress syndrome (aOR 1.45; 95% CI: 1.12–1.87). Multivariate analysis also revealed that patients with SSc had significantly higher odds of several comorbid conditions, including pulmonary hypertension, interstitial lung disease, osteoporosis, Sjögren's syndrome, and hypertension.</div></div><div><h3>Conclusions</h3><div>The inpatient prevalence of SSc exceeds its general population prevalence, indicating a high need for hospital-level care. Hospitalizations among patients with SSc are associated with worse clinical outcomes and significantly greater healthcare expenditures.</div></div>","PeriodicalId":54902,"journal":{"name":"Joint Bone Spine","volume":"93 2","pages":"Article 105985"},"PeriodicalIF":4.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145214554","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":"Bernard Amor (1929–2025)","authors":"Maxime Dougados","doi":"10.1016/j.jbspin.2025.106031","DOIUrl":"10.1016/j.jbspin.2025.106031","url":null,"abstract":"","PeriodicalId":54902,"journal":{"name":"Joint Bone Spine","volume":"93 2","pages":"Article 106031"},"PeriodicalIF":4.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146031663","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":"Monostotic Paget's disease involving femoral condyle","authors":"Mariana Emília Santos ,&nbsp;Sara Dias Rodrigues ,&nbsp;Tiago Saldanha ,&nbsp;Jaime C. Branco ,&nbsp;Alexandre Sepriano","doi":"10.1016/j.jbspin.2025.105989","DOIUrl":"10.1016/j.jbspin.2025.105989","url":null,"abstract":"","PeriodicalId":54902,"journal":{"name":"Joint Bone Spine","volume":"93 2","pages":"Article 105989"},"PeriodicalIF":4.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145330890","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":"Impact of drug-drug interaction of JAK inhibitors, CYP enzyme inhibitors and OAT3 inhibitors on persistence and infection rates in patients with autoimmune rheumatic diseases","authors":"Yu-Hsuan Joni Shao ,&nbsp;Tzu-Tung Kuo ,&nbsp;Yi-Ju Liao ,&nbsp;Yi-Ting Chen ,&nbsp;I.-Chieh Chen ,&nbsp;Chung-Mao Kao ,&nbsp;Yen-Ju Chen ,&nbsp;Yi-Ming Chen","doi":"10.1016/j.jbspin.2025.105990","DOIUrl":"10.1016/j.jbspin.2025.105990","url":null,"abstract":"<div><h3>Objectives</h3><div>Janus kinase (JAK) inhibitors are effective treatments for autoimmune rheumatic diseases (AIRDs). However, concomitant use of JAK inhibitors with CYP enzyme inhibitors or OAT3 inhibitors can lead to drug-drug interactions. This study aimed to evaluate the impact of the concomitant use of CYP and OAT3 inhibitors on discontinuation of treatment and infectious complications in patients treated with JAK inhibitors.</div></div><div><h3>Methods</h3><div>Using the National Health Insurance Research Database, this retrospective cohort study included patients with rheumatoid arthritis, psoriatic arthritis and atopic dermatitis treated with JAK inhibitors in 2021–2023. The risks of discontinuation of treatment and infectious complications were evaluated using Cox proportional hazards models, adjusted for age, gender, other infectious and concomitant use of steroids or methotrexate.</div></div><div><h3>Results</h3><div>Among 7591 patients, concomitant use of strong CYP3A4, or CYP2C19 inhibitors increased the risk of treatment discontinuation for tofacitinib and baricitinib from 41% to 144%. The risk of overall infectious complications also increased when tofacitinib was used concomitantly with strong CYP2C19 inhibitors. The risk of pneumonia was further increased by concomitant use of strong CYP2C19 inhibitors with all JAK inhibitors and CYP3A4 inhibitors with tofacitinib. The risk of urinary tract infection was increased by concomitant use of strong CYP2C19 inhibitors when used with tofacitinib, or baricitinib.</div></div><div><h3>Conclusions</h3><div>Concomitant use of strong CYP3A4, and CYP2C19 inhibitors with JAK inhibitors significantly increases the risk of discontinuation of treatment and infectious complications in patients with AIRDs. Careful consideration of drug-drug interactions is necessary when prescribing JAK inhibitors to optimize treatment persistence and minimize adverse events.</div></div>","PeriodicalId":54902,"journal":{"name":"Joint Bone Spine","volume":"93 2","pages":"Article 105990"},"PeriodicalIF":4.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145330868","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":"Polychondritis revealing the acutisation of myelodysplasia into acute myeloid leukaemia in a 36-year-old woman: A case report","authors":"Emilie Gefard ,&nbsp;Thomas Fauthoux ,&nbsp;Raphaëlle Meunier","doi":"10.1016/j.jbspin.2025.106027","DOIUrl":"10.1016/j.jbspin.2025.106027","url":null,"abstract":"<div><div>This was a young female patient admitted to the rheumatology department with nasal and chest pain, which led to a diagnosis of polychondritis. Her medical history included myelodysplastic syndrome (MDS), which had been considered stable during a hematological reassessment a few days earlier. During the evaluation, we observed immature blood cells and biological markers of macrophage activation. This acute rheumatological manifestation allowed us to diagnose rapidly progressive acute leukemia and offer her early treatment. She is currently in remission.</div></div>","PeriodicalId":54902,"journal":{"name":"Joint Bone Spine","volume":"93 2","pages":"Article 106027"},"PeriodicalIF":4.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145851331","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":"French Societies of Rheumatology and of Physical and Rehabilitation Medicine recommendations for the management of people living with hand osteoarthritis","authors":"Alice Courties ,&nbsp;Camille Daste ,&nbsp;Alexis F. Homs ,&nbsp;Inès Kouki ,&nbsp;Françoise Alliot-Launois ,&nbsp;Lisa Bialé ,&nbsp;Pierre-Emmanuel Cailleaux ,&nbsp;Adeline Cambon ,&nbsp;Roland Chapurlat ,&nbsp;Michel Chammas ,&nbsp;Grégoire Cormier ,&nbsp;Marie-Christine Fabre ,&nbsp;Véronique Gaud-Listrat ,&nbsp;Augustin Latourte ,&nbsp;Antonio Lopez ,&nbsp;Emmanuel Maheu ,&nbsp;Nathalie Nayral ,&nbsp;François Rannou ,&nbsp;Anne-Christine Rat ,&nbsp;Alexandra Rören ,&nbsp;Jérémie Sellam","doi":"10.1016/j.jbspin.2025.106000","DOIUrl":"10.1016/j.jbspin.2025.106000","url":null,"abstract":"<div><h3>Objectives</h3><div>To establish French recommendations for the management of people living with hand osteoarthritis (OA) on behalf of the French Society of Rheumatology (SFR) and of the French Society of Physical and Rehabilitation Medicine (SOFMER).</div></div><div><h3>Methods</h3><div>A systematic review of the literature, including systematic reviews, meta-analyses, and randomized controlled trials on pharmacological and non-pharmacological treatments, was conducted from inception until November 24, 2023. Based on this review and expert consensus, a multidisciplinary group of 25 healthcare professionals—including rheumatologists, physical and rehabilitation medicine physicians, hand surgeons, general practitioner, geriatrician, occupational therapists, physiotherapists, and patients—formulated the recommendations. Each statement was assigned a level of evidence, a grade of recommendation, and a level of agreement based on EULAR standardized procedures for recommendations.</div></div><div><h3>Results</h3><div>The group established four general principles and 11 specific recommendations. The general principles emphasize treatment objectives, individualized management, patient education, and a multimodal approach combining non-pharmacological and pharmacological therapies. Four specific recommendations address non-pharmacological strategies, including exercise, ergonomic advice, assistive devices, orthoses and heat applications. The group advises against the use of electromagnetic waves, laser therapy, acupuncture, or kinesiotaping. Seven specific recommendations cover pharmacological treatments, advocating for topical and oral NSAIDs, acetaminophen, chondroitin sulfate for symptom relief, low-dose oral corticosteroids for inflammatory flares, and intra-articular steroid injections for inflammatory painful interphalangeal OA. Given the current data, the group advises against the use of conventional synthetic or biological disease-modifying anti-rheumatic drugs (DMARDs).</div></div><div><h3>Conclusions</h3><div>These recommendations provide a structured approach for the management of people living with hand OA in France, aligning with national healthcare practices and patient needs.</div></div>","PeriodicalId":54902,"journal":{"name":"Joint Bone Spine","volume":"93 2","pages":"Article 106000"},"PeriodicalIF":4.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145440153","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":"Piezo1 at the crossroads: Mediating inflammation and mechanical stress in joint disorders","authors":"Siwen Chen ,&nbsp;Zihao Li ,&nbsp;Jingyu Zhang ,&nbsp;Hui Liu","doi":"10.1016/j.jbspin.2025.105953","DOIUrl":"10.1016/j.jbspin.2025.105953","url":null,"abstract":"<div><div>Piezo1 is a mechanosensitive ion channel, which plays a pivotal role in translating mechanical stress into cellular signaling, thereby influencing inflammatory responses and tissue remodeling in joint disorders. Current evidences showed that Piezo1 functions as a mechanotransducer and amplifier of inflammation across joint disorders including osteoarthritis (OA), rheumatoid arthritis (RA), ankylosing spondylitis (AS), and intervertebral disc degeneration (IVDD). In OA, Piezo1 mediates chondrocyte apoptosis and matrix degradation via calcium influx, NF-κB/MAPK activation, and ferroptosis, forming a feedback loop with IL-1α to exacerbate inflammation. In AS, Piezo1 drives pathological new bone formation through CaMKII signaling, synergizing with TNF-α/IL-17A to perpetuate entheseal inflammation. In IVDD, Piezo1-induced calcium dysregulation triggers mitochondrial dysfunction, NLRP3 inflammasome activation, and YAP/TAZ-mediated extracellular matrix (ECM) degradation, creating a self-amplifying cycle of mechanical stress and inflammation. Targeting Piezo1 emerges as a potential therapeutic strategy, with preclinical studies demonstrating inhibition of Piezo1 alleviates disease progression by disrupting mechanotransduction-inflammation crosstalk. However, challenges remain in achieving tissue-specific modulation. Future research should focus on elucidating Piezo1's context and developing precision therapeutics to restore mechanobiological balance in joint diseases.</div></div>","PeriodicalId":54902,"journal":{"name":"Joint Bone Spine","volume":"93 2","pages":"Article 105953"},"PeriodicalIF":4.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144755166","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":"Teleconsultation for rheumatoid arthritis: A selective therapeutic tool in routine care","authors":"Jérôme Avouac,&nbsp;Olivier Fogel,&nbsp;Anna Molto,&nbsp;Yannick Allanore","doi":"10.1016/j.jbspin.2025.105983","DOIUrl":"10.1016/j.jbspin.2025.105983","url":null,"abstract":"","PeriodicalId":54902,"journal":{"name":"Joint Bone Spine","volume":"93 2","pages":"Article 105983"},"PeriodicalIF":4.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145214560","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":"Answer to Jing, et al","authors":"Yinglun Zhang ,&nbsp;Zhibin Jin ,&nbsp;Jing Yao ,&nbsp;Dandan Wang ,&nbsp;Yunxian Yu ,&nbsp;Weijing Zhang","doi":"10.1016/j.jbspin.2025.106003","DOIUrl":"10.1016/j.jbspin.2025.106003","url":null,"abstract":"","PeriodicalId":54902,"journal":{"name":"Joint Bone Spine","volume":"93 1","pages":"Article 106003"},"PeriodicalIF":4.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145530978","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}