Rheumatology Advances in Practice最新文献

{"title":"Sexual dysfunction in women with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders: an online community-based study.","authors":"Emily Fuster, Omid Mirmosayyeb, Svetlana Blitshteyn","doi":"10.1093/rap/rkaf023","DOIUrl":"10.1093/rap/rkaf023","url":null,"abstract":"<p><strong>Objectives: </strong>Hypermobility spectrum disorders (HSD) and hypermobile Ehlers-Danlos syndrome (h-EDS) are connective tissue disorders associated with joint hypermobility, pain, fatigue and autonomic dysfunction. We sought to assess sexual function in women with h-EDS/HSD.</p><p><strong>Methods: </strong>In this cross-sectional community-based case-control study, women with h-EDS/HSD completed the following online questionnaires: Female Sexual Function Index (FSFI), 31-item Composite Autonomic Symptom Score (COMPASS-31), Beck Depression Inventory-II (BDI-II) and an additional short form with questions pertaining to comorbidities and sexual activity. Scores were compared with those of healthy female controls.</p><p><strong>Results: </strong>A total of 84 women with h-EDS/HSD [mean age 37.1 years (s.d. 8.4)] and 75 healthy women [mean age 29.79 years (s.d. 5.38)] completed the questionnaires. Of these, 75% were diagnosed with h-EDS, 25% with HSD and 58% had concurrent postural orthostatic tachycardia syndrome. A majority of women with h-EDS/HSD (52%) did not engage in any sexual activity, and only 25% reported having sexual intercourse with a partner in the past 6 months. The mean COMPASS-31 score was 51.5 (s.d. 13.8), mean BDI-II score was 24.6 (s.d. 11.4) and mean FSFI score was 15.3 (s.d. 7.9) in the patient group. Compared with healthy controls, women with h-EDS/HSD had decreased FSFI scores in the subdomains of desire, arousal, lubrication, orgasm and sexual satisfaction. Neither BDI-II nor COMPASS-31 scores were predictive of the FSFI score.</p><p><strong>Conclusion: </strong>Compared with healthy women, we found significant sexual dysfunction in women with h-EDS/HSD, which did not correlate with depressive or autonomic symptoms in this cohort. Given its health implications, sexual dysfunction represents a significant unmet need that calls for development of targeted diagnostic and therapeutic approaches in the care of women with h-EDS/HSD.</p>","PeriodicalId":21350,"journal":{"name":"Rheumatology Advances in Practice","volume":"9 2","pages":"rkaf023"},"PeriodicalIF":2.1,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11964486/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143773099","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Jeopardy to life and limb-using immunogenotyping to characterize inflammatory phenotypes: a case report.","authors":"Kirishananth Rajaseelan, Saad Ahmed, Frances Hall, Emese Balogh, Dinakantha Kumararatne, Anita Chandra, Ania Manson","doi":"10.1093/rap/rkaf020","DOIUrl":"10.1093/rap/rkaf020","url":null,"abstract":"","PeriodicalId":21350,"journal":{"name":"Rheumatology Advances in Practice","volume":"9 1","pages":"rkaf020"},"PeriodicalIF":2.1,"publicationDate":"2025-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11879314/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143557851","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"From pericarditis to giant cell arteritis: leveraging FDG PET CT for accurate diagnosis and treatment.","authors":"Fatima K Alduraibi","doi":"10.1093/rap/rkaf019","DOIUrl":"https://doi.org/10.1093/rap/rkaf019","url":null,"abstract":"","PeriodicalId":21350,"journal":{"name":"Rheumatology Advances in Practice","volume":"9 1","pages":"rkaf019"},"PeriodicalIF":2.1,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11878558/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143557849","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Thank you to the reviewers of Rheumatology Advances in Practice 2024.","authors":"Ai Lyn Tan","doi":"10.1093/rap/rkaf002","DOIUrl":"10.1093/rap/rkaf002","url":null,"abstract":"","PeriodicalId":21350,"journal":{"name":"Rheumatology Advances in Practice","volume":"9 1","pages":"rkaf002"},"PeriodicalIF":2.1,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11825386/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143433608","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Longitudinal risk of serious infections in patients with inflammatory arthritis on immunomodulating therapy compared to controls.","authors":"Ingrid Egeland Christensen, Siri Lillegraven, Joseph Sexton, Tore K Kvien, Till Uhlig, Sella Aarrestad Provan","doi":"10.1093/rap/rkaf017","DOIUrl":"10.1093/rap/rkaf017","url":null,"abstract":"<p><strong>Objectives: </strong>To compare the risk of serious infection across time cohorts in patients with inflammatory arthritis (IA) initiating their first biologic/targeted synthetic DMARD (b/tsDMARD), to that of the general population. Secondarily, to compare the development in infection risk during treatment across diagnoses and examine risk dynamics during the course of b/tsDMARD treatment.</p><p><strong>Methods: </strong>Patients with IA starting their first b/tsDMARD were included from the prospective NOR-DMARD study. Controls were randomly drawn from the general population. Cox regressions were used to compare the 12-month risk of serious infections across three time cohorts following initiation (2009-2011, 2012-2014, 2015-2018) and risk during the course of treatment at 6-month intervals up to 24 months.</p><p><strong>Results: </strong>A total of 4309 patients (RA, 1581; PsA, 1032; SpA, 1696) and 86 640 controls were included. From 2009 through 2018, 51 serious infections occurred during the first year of b/tsDMARD treatment in RA patients [hazard ratio (HR) 2.42 (95% CI 1.83, 3.21)] compared with controls and 52 serious infections were observed in patients with PsA/SpA [HR 1.91 (95% CI 1.44, 2.52)]. There were no significant differences in 12-month risk of serious infections during b/tsDMARD exposure between time cohorts. PsA/SpA patients had a consistently lower risk of serious infection compared with RA patients. The risk of serious infections did not change during the treatment course.</p><p><strong>Conclusion: </strong>Patients with IA starting their first b/tsDMARD between 2009 and 2018 had a consistently higher 12-month risk of serious infection compared with controls. No change in the risk of serious infection across time cohorts of b/tsDMARD initiation was observed, nor during the treatment course.</p>","PeriodicalId":21350,"journal":{"name":"Rheumatology Advances in Practice","volume":"9 1","pages":"rkaf017"},"PeriodicalIF":2.1,"publicationDate":"2025-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11889454/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143586590","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Urine toxicology screening reduces misdiagnosis of cocaine-induced ANCA-positive disease as idiopathic granulomatosis with polyangiitis.","authors":"James Bateman, Mir Nadeem, James Barraclough, Tochukwu Adizie, Mark Pucci, Tom Sheeran","doi":"10.1093/rap/rkaf018","DOIUrl":"10.1093/rap/rkaf018","url":null,"abstract":"<p><strong>Objectives: </strong>Study aims were to assess the impact of urine cocaine screening in distinguishing cocaine-induced midline destruction lesions (CIMDLs) from idiopathic ANCA-associated systemic vasculitis (AASV), to evaluate the adoption and effectiveness of screening and to explore its clinical implications.</p><p><strong>Methods: </strong>We conducted a retrospective single-centre case series, reviewing rheumatology patients with suspected new or relapsing AASV, ages 18-55 years, from April 2021 to July 2024. Patients were in two groups: an active screening group offering urinary cocaine testing for all patients and a standard care group, with ad hoc testing based on clinical suspicion. Demographics, clinical presentations and diagnostic pathways were analysed.</p><p><strong>Results: </strong>Of 11 cases in the active screening group, all denied cocaine use, 7 were diagnosed with CIMDL from urine screening and 4 patients were treated for vasculitis. In the standard care group of 15 patients, 2 patients had CIMDLs (admitted cocaine use), no patients had urine screening and 13 were treated for AASV. In total, there were nine CIMDL cases [mean age 38.2 years (interquartile range 11; six females), most [7/9 (78%)] were from active screening. CIMDL presentations were heterogeneous, including vocal cord palsy, lymphadenopathy and cutaneous vasculitis. CIMDL cases were positive for perinuclear ANCA (6/9) and PR3 (7/9), with no MPO positivity, and 5/9 (71%) failed to provide an adequate initial urine sample. There were no formal complaints or concerns from screening.</p><p><strong>Conclusion: </strong>These data support the effectiveness and acceptability of systematic screening for cocaine to improve the identification of CIMDLs, reducing misdiagnosis and unnecessary treatment. A protocol for systematic screening is proposed to improve the care for these patients.</p>","PeriodicalId":21350,"journal":{"name":"Rheumatology Advances in Practice","volume":"9 2","pages":"rkaf018"},"PeriodicalIF":2.1,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11993301/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144044043","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical characteristics and quality of life in children with PFAPA syndrome and Behçet's disease.","authors":"Asli Gürel Bedir, Sara Sebnem Kilic","doi":"10.1093/rap/rkaf015","DOIUrl":"10.1093/rap/rkaf015","url":null,"abstract":"<p><strong>Objective: </strong>Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) syndrome and Behçet's disease (BD) are non-monogenic autoinflammatory disorders with common clinical characteristics and genetic features. We aimed to review both patients' clinical characteristics and quality of life.</p><p><strong>Methods: </strong>Retrospective data were collected on patients' clinical and laboratory characteristics with PFAPA and BD between 2019 and 2022. The quality of life questionnaire (Pediatric Quality of Life Inventory) form was completed by the parents of all patients and the control group.</p><p><strong>Results: </strong>The study included 150 cases aged between 2 and 18, including 60 with PFAPA, 30 BD patients and 60 healthy volunteers. The duration of attacks in males with PFAPA was longer than that in females (<i>P</i> = 0.015). During attacks, the mean acute phase reactants of PFAPA patients were higher than those of BD (<i>P</i> = 0.010). In addition, there was a statistically significant relationship between the use of colchicine and a decrease in attack frequency in BD patients at 89.29% (<i>P</i> = 0.001 < 0.05) and in PFAPA patients at 88% (<i>P</i> = 0.001 < 0.05). Precisely, 61.67% of PFAPA (<i>n</i> = 37) and 73.33% of BD patients (<i>n</i> = 22) exhibited poor quality of life regarding daily activities and school attendance.</p><p><strong>Conclusion: </strong>Limited data on the quality of life of paediatric BD and PFAPA syndrome are available. During the attacks of patients with PFAPA and BD, acute-phase reactants were higher in PFAPA patients. Colchicine is an effective medication in reducing attacks in both groups. Effective and timely treatment is indispensable to improve quality of life.</p>","PeriodicalId":21350,"journal":{"name":"Rheumatology Advances in Practice","volume":"9 1","pages":"rkaf015"},"PeriodicalIF":2.1,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11829805/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143433596","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Occupational history questionnaire for job coding and exposure assessment in systemic autoimmune rheumatic diseases.","authors":"Anne-Catherine Dens, Hannelore Celen, Stijn Michiels, Michaël Doumen, Sofia Pazmino, Lode Godderis, Patrick Verschueren, Hans Kromhout, Steven Ronsmans, Ellen De Langhe","doi":"10.1093/rap/rkaf016","DOIUrl":"10.1093/rap/rkaf016","url":null,"abstract":"<p><strong>Objectives: </strong>Systemic autoimmune rheumatic diseases (SARDs) develop in genetically susceptible individuals when exposed to environmental factors such as respirable crystalline silica (RCS) particles. Assessing occupational exposure in population-based studies is critical but resource intensive, often requiring expert interviews. This study aimed to develop and validate a self-administered occupational history questionnaire that allows for International Standard Classification of Occupations 1968 (ISCO-68) coding and exposure assessment as a cost-effective alternative to traditional interviews.</p><p><strong>Methods: </strong>Seventy RA patients participated by completing a standardized telephone interview and the newly developed self-administered questionnaire. Participants were also asked to recruit two gender- and age-matched family members for comparison. Independent observers assigned ISCO-68 codes to the reported jobs and a job exposure matrix was used to link each job to RCS exposure. Agreement between the interview and questionnaire was assessed by comparing reported working years, ISCO-68 job codes and RCS exposure. Cohen's κ and intraclass correlation were calculated to evaluate agreement and interobserver variability.</p><p><strong>Results: </strong>The patient response rate was 77%, but family member controls had a low response rate (6.45%), likely impacted by the COVID-19 pandemic. Agreement for reported working years was 91%, with a Cohen's κ of 0.87 for ever/never RCS exposure. Manual ISCO coding introduced variability, but interobserver reliability remained high (intraclass correlation coefficient = 0.91).</p><p><strong>Conclusion: </strong>The self-administered occupational history questionnaire provides a valid, cost-effective and time-efficient alternative to telephone interviews for assessing occupational history and estimating RCS exposure in epidemiological research. Future studies should explore automated coding systems and improved strategies for control recruitment.</p>","PeriodicalId":21350,"journal":{"name":"Rheumatology Advances in Practice","volume":"9 1","pages":"rkaf016"},"PeriodicalIF":2.1,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11882302/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143568078","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Universal health-related social needs screening in a paediatric rheumatology clinic.","authors":"Mia T Chandler, Maria Alfieri Biancarelli, Anthony Dekermanji, Margaret Taggart, Benjamin G Ethier, Joyce C Chang, Brittany Esty, Mary Beth F Son, Melissa M Hazen","doi":"10.1093/rap/rkaf014","DOIUrl":"10.1093/rap/rkaf014","url":null,"abstract":"<p><strong>Objectives: </strong>Health-related social needs (HRSN) have a significant impact on health outcomes. While screening is prevalent in paediatric primary care settings, little evidence exists regarding the feasibility of HRSN screening in paediatric rheumatology clinics. Individuals with paediatric rheumatic disease have frequent longitudinal visits, therefore it is important to understand social needs that may hinder optimal health outcomes in this population. The objectives of this study were to understand the burden of HRSN and to contextualize the feasibility of universal HRSN screening in a busy paediatric rheumatology clinic.</p><p><strong>Methods: </strong>The study team secured funding for a full-time social worker and developed a needs assessment questionnaire (NAQ) through an iterative process. The paper-based NAQ was distributed by administrative clinical staff to all patients at each in-person visit. Medical providers returned completed NAQs to a designated collection tray. The responses were reviewed and analysed. The social worker addressed positive screens among families who opted in for contact.</p><p><strong>Results: </strong>More than 1/3 of patients returned an NAQ (985/2819), 604/985 (61%) of which revealed one or more concerns. The most frequent social concern was school or work related. The social worker responded by phone or patient electronic portal message to returned NAQs that identified unmet needs.</p><p><strong>Conclusion: </strong>A school or work concern was a frequent health-related social need in the paediatric rheumatology clinic. The prevalence of unmet HRSN, despite primary care access, shows the importance of screening in rheumatology clinics. Sustainable funding is needed to scale efforts to assess and address them.</p>","PeriodicalId":21350,"journal":{"name":"Rheumatology Advances in Practice","volume":"9 2","pages":"rkaf014"},"PeriodicalIF":2.1,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11954546/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143754365","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Phase 3, multicentre, randomized, double-blind, placebo-controlled, parallel-group study of ustekinumab in patients with Takayasu arteritis.","authors":"Hajime Yoshifuji, Tomonori Ishii, Hiroki Ohashi, Katsunori Yoshizawa, Maki Mihoya, Kazuko Nishikawa, Yoshikazu Nakaoka","doi":"10.1093/rap/rkaf013","DOIUrl":"10.1093/rap/rkaf013","url":null,"abstract":"<p><strong>Objectives: </strong>Takayasu arteritis (TAK) is a rare, chronic large vessel vasculitis with unmet treatment needs. This phase 3 study aimed to evaluate efficacy, safety, pharmacokinetics and immunogenicity of ustekinumab (UST) in Japanese patients with TAK.</p><p><strong>Methods: </strong>Patients with TAK who had relapsed ≤12 weeks prior to study intervention administration and achieved remission thereafter with standard-of-care including corticosteroid intensification were randomized 1:1 to receive UST or matching placebo with protocol-defined oral glucocorticoid taper regimen. The double-blind (DB) phase was up to the patient's relapse/total of 35 relapse events, followed by the open-label extension (OLE) phase. Primary endpoint was the time to relapse of TAK per protocol-defined criteria through the end of the DB phase.</p><p><strong>Results: </strong>The study was terminated early due to patient recruitment challenge. Of 14 patients randomized, 8 relapsed during the DB phase (UST: 4/6; placebo: 4/8). The median time to relapse (weeks) was 11.14 (95% CI: 4.14, not estimated [NE]) for UST and 12.64 (95% confidence interval [CI]: 12.14, NE) for placebo (hazard ratio [HR] = 1.86 [95% CI: 0.41, 8.47]). In the DB phase, one patient in each group reported serious adverse event (SAE; UST: vascular pseudoaneurysm and brachiocephalic artery stenosis; placebo: cholecystitis); none were related to study intervention. Through the OLE phase, 1/4 (25.0%) patients in the UST-UST group (vascular graft infection considered related to study intervention) and none in the placebo-UST had SAEs. There were no serious infections/deaths throughout the study.</p><p><strong>Conclusion: </strong>The efficacy of UST in patients with TAK cannot be adequately assessed as the pre-determined sample size was not reached, and the study was prematurely terminated. No new safety signal of UST was identified.</p><p><strong>Trial registration: </strong>Clinicaltrials.gov, https://clinicaltrials.gov, NCT04882072; jrct.niph.go.jp, https://jrct.niph.go.jp, jRCT2061210007; Clinical Registry, CR108981.</p>","PeriodicalId":21350,"journal":{"name":"Rheumatology Advances in Practice","volume":"9 2","pages":"rkaf013"},"PeriodicalIF":2.1,"publicationDate":"2025-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11919447/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143658546","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}