Rheumatology Advances in Practice最新文献

{"title":"Lipid deposition myopathy due to compound heterozygous mutation in the <i>ETFDH</i> gene: a case report.","authors":"Yadan Li, Guangzhi Xiao, Xianghui Fu, Junfeng Jia, Zhaohui Zheng","doi":"10.1093/rap/rkaf056","DOIUrl":"10.1093/rap/rkaf056","url":null,"abstract":"","PeriodicalId":21350,"journal":{"name":"Rheumatology Advances in Practice","volume":"9 3","pages":"rkaf056"},"PeriodicalIF":2.1,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12202141/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144529481","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":"Giant cell arteritis in Finland from 2010 to 2020: incidence, developing diagnostic methods and disease presentation.","authors":"Lauri Kivitalo, Kirsi Taimen, Tuulikki Sokka-Isler, Anne Kerola, Joonas Rautavaara, Laura Pirilä, Markku Kauppi, Joel Malila, Laura Haara, Laura Ryyppö, Taina Kotijärvi, Panu Saarenketo, Hannu Saarivaara, Juho Siltanen, Mika Helminen, Jarno Rutanen, Pia Isomäki","doi":"10.1093/rap/rkaf055","DOIUrl":"10.1093/rap/rkaf055","url":null,"abstract":"<p><strong>Objectives: </strong>To study the annual incidence, diagnostic methods used and clinical presentation of giant cell arteritis (GCA) over time in Finland.</p><p><strong>Methods: </strong>Newly diagnosed GCA patients from 2010 to 2020 were retrospectively identified from four healthcare districts in Finland. Medical records were reviewed and data on incidence, diagnostic methods, phenotype [cranial <i>vs</i> large vessel (LV)-GCA] and clinical presentation were analysed.</p><p><strong>Results: </strong>We identified 602 newly diagnosed GCA patients. The annual incidence was 9.0 cases/100 000 persons (95% CI 8.3, 9.7) ≥50 years of age and was significantly higher in the period 2016-2020 compared with the period 2010-2015 [11.3 (95% CI 10.1, 12.5) <i>vs</i> 7.0 (95% CI 6.2, 7.9), <i>P</i> < 0.001]. Imaging- or biopsy-confirmed diagnosis was recorded in 75% of GCA patients, while 25% had a clinical diagnosis. The proportion of imaging- or biopsy-confirmed diagnoses increased over time [64.7% (2010-2015) <i>vs</i> 82.2% (2016-2020)] while that of clinical diagnoses decreased. The use of imaging methods increased while the use of temporal artery biopsies decreased between the two time periods. LV-GCA was discovered more often in the period 2016-2020 when compared with 2010-2015 (34.0% <i>vs</i> 19.3% of patients).</p><p><strong>Conclusion: </strong>The incidence of GCA increased during the study period, as well as the proportion of imaging- or biopsy-confirmed diagnoses, probably due to more frequent use of advanced imaging methods. Additionally, patients with LV-GCA were more commonly identified.</p>","PeriodicalId":21350,"journal":{"name":"Rheumatology Advances in Practice","volume":"9 2","pages":"rkaf055"},"PeriodicalIF":2.1,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12145172/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144249379","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":"Increased risk of acute myocardial infarction in Swedish patients with systemic sclerosis: a population-based study.","authors":"Majd Bairkdar, Karina Patasova, Pontus Andell, Marie Holmqvist","doi":"10.1093/rap/rkaf054","DOIUrl":"10.1093/rap/rkaf054","url":null,"abstract":"<p><strong>Objectives: </strong>To study the risk of acute myocardial infarction (AMI) in patients with SSc in a population-based cohort.</p><p><strong>Methods: </strong>Using nationwide Swedish registers, we identified patients with incident SSc 2004-19 and age- and sex-matched comparators from the general population (1:10). Our primary outcome was incident AMI or death from incident AMI. We started follow-up from SSc diagnosis until the primary outcome, death from other cause than AMI, emigration or study end (31 December 2019). We estimated crude AMI incidence rate. We used flexible parametric models to explore the relative risk of AMI over time since diagnosis. We also used age as time scale to explore how AMI risk changes over increasing age. We also studied the outcomes of AMI in SSc compared with the matched comparators.</p><p><strong>Results: </strong>We identified 1579 patients and 16 064 comparators. The incidence rate of AMI was 75.2 (95% CI 58.8-94.6) per 10 000 person-years in patients with SSc and 37.5 (95% CI 34.0-41.3) in the comparators, median follow-up was 5.2 and 6.3 years, respectively. The adjusted hazard ratio (HR) was highest during the first year after SSc diagnosis (HR 3.1, 95% CI 2.0-4.6). In patients with SSc, the risk of AMI increased more rapidly with increasing age compared with the comparators. AMI in SSc was associated with higher risk of mortality (HR 2.7, 95% CI 1.6-4.4) but not 30-day readmission (HR 1.3, 95% CI 0.7-2.0) compared with the comparators.</p><p><strong>Conclusion: </strong>In line with previous studies, SSc is associated with a 2-fold increase in AMI incidence compared with the general population.</p>","PeriodicalId":21350,"journal":{"name":"Rheumatology Advances in Practice","volume":"9 2","pages":"rkaf054"},"PeriodicalIF":2.1,"publicationDate":"2025-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12106857/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144161821","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":"Onco-rheumatology: from rags to riches, a transdisciplinary evolution.","authors":"Daniela Marotto, Canio Martinelli, Patrizia Maiorano, Antonella Fioravanti, Patrizia Amato, Giovanni Baglio, Graziella Calugi, Andrea Fiorillo, Tindara Franchina, Francesca Gimigliano, Giovanni Iolascon, Maria Cristina Maggio, Luciano Mutti, Luigi Pirtoli, Antonio Giordano","doi":"10.1093/rap/rkaf053","DOIUrl":"10.1093/rap/rkaf053","url":null,"abstract":"","PeriodicalId":21350,"journal":{"name":"Rheumatology Advances in Practice","volume":"9 2","pages":"rkaf053"},"PeriodicalIF":2.1,"publicationDate":"2025-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12150209/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144267229","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":"Adrenal insufficiency in giant cell arteritis.","authors":"Georgina Ducker, Ketan Dhatariya, Chetan B Mukhtyar","doi":"10.1093/rap/rkaf050","DOIUrl":"10.1093/rap/rkaf050","url":null,"abstract":"<p><strong>Objectives: </strong>To ascertain the frequency of adrenal insufficiency in patients with GCA treated using the Norwich prednisolone regimen.</p><p><strong>Methods: </strong>Consecutive patients diagnosed with GCA between 1 January 2012 and 31 May 2022 were included. All patients were treated with the Norwich prednisolone regimen, educated about the benefits and risks of long-term prednisolone use and followed up in dedicated vasculitis clinics. When patients contacted the advice line to report being unwell, tests for adrenal function were performed after ruling out relapsing vasculitis or polymyalgia rheumatica. A 9 a.m. serum cortisol was used, providing the daily dose of prednisolone was ≤5 mg, as a gateway to dynamic testing with full-form adrenocorticotrophic hormone (ACTH) stimulation.</p><p><strong>Results: </strong>A total of 353 consecutive patients with GCA were included. During the prescribed glucocorticoid tapering regimen, 76/353 had a 9 a.m. serum cortisol check after ruling out relapsing disease. Of these, 34/76 had a serum cortisol >350 nmol/l (our laboratory cut-off for adequacy of adrenal reserve); 7/76 had a serum cortisol <100 nmol/l, indicative of insufficient adrenal function and 35/76 had a cortisol level of 100-350 nmol/l. Of the 35 patients who went on to have a standard-dose ACTH stimulation test, 27/35 had an adequate result (i.e. >450 nmol/l at 30 min) and 8/35 had an inadequate result. A total of 15/353 patients required long-term steroids because of adrenal insufficiency and 11/15 patients with adrenal insufficiency were female. The median (IQR) cumulative prednisolone dose at the time of testing was 11.53 grams (7.74) and the median (IQR) duration of prednisolone was 121 weeks (97).</p><p><strong>Conclusion: </strong>This is the largest study studying the frequency of adrenal insufficiency in patients with GCA treated using the Norwich prednisolone regimen. Adrenal insufficiency requiring long-term steroid replacement therapy is uncommon. Sequential testing using 9 a.m. serum cortisol levels as a gateway to rationalizing the necessity for dynamic testing with standard-dose ACTH stimulation testing is an efficient strategy for this cohort of patients.</p>","PeriodicalId":21350,"journal":{"name":"Rheumatology Advances in Practice","volume":"9 2","pages":"rkaf050"},"PeriodicalIF":2.1,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12148302/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144258843","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":"Anti-PCNA antibodies in psoriatic arthritis: a case-control study.","authors":"Rebecca Fitzpatrick, Jemima Albayda, Qingyuan Yang, Ning Meng, Livia Casciola-Rosen, Ana-Maria Orbai","doi":"10.1093/rap/rkaf049","DOIUrl":"10.1093/rap/rkaf049","url":null,"abstract":"<p><strong>Objectives: </strong>Psoritic arthritis (PsA) is an inflammatory arthritis with infrequent antibodies. We present a case-control study of six PsA patients with antibodies against PCNA and observed clinical associations.</p><p><strong>Methods: </strong>We conducted a study to identify autoantibodies in PsA. Sera from 81 PsA patients were assayed by immunoprecipitation from radiolabelled cell extracts. From this study, serum that immunoprecipitated a ≈32-kDa band was selected for mass spectrometry-based antibody discovery, which identified anti-PCNA antibodies. These were validated using immunoprecipitation of ³⁵S-methionine-labelled PCNA from <i>in vitro</i> transcription and translation. This assay tested 222 PsA sera for anti-PCNA antibodies. This study included sera from 39 healthy controls. Descriptive statistics were used to assess clinical associations with anti-PCNA status.</p><p><strong>Results: </strong>Anti-PCNA antibodies were identified in 6/222 PsA patients. In 4/6 patients, banked longitudinal sera were available. In patients with anti-PCNA positivity compared with negativity, the mean age was 46 years (s.d. 14) and 52 years (s.d. 13), PsA disease duration was 8 years (s.d. 7) and 7 years (s.d. 8), BMI was 27 (s.d. 4) and 31 (s.d. 7), 67% and 44% were male, 100% and 89% were White, mean clinical DAPSA was 16 (s.d. 22) and 21 (s.d. 16), psoriasis body surface area was 2% (s.d. 4) and 5% (s.d. 12), HLA-B27 positivity was 0 and 12% and sulfasalazine (SSZ) use was 83% and 10%, respectively. Of these, only SSZ use was significant (Fisher's exact test <i>P</i>-value <0.001). Among anti-PCNA-positive patients with longitudinal sera, low/absent anti-PCNA coincided with articular low disease activity/remission.</p><p><strong>Conclusion: </strong>Anti-PCNA antibodies were found in 6/222 (2.7%) PsA patients. Given the low prevalence of anti-PCNA, additional studies are needed to identify the clinical associations and significance.</p>","PeriodicalId":21350,"journal":{"name":"Rheumatology Advances in Practice","volume":"9 2","pages":"rkaf049"},"PeriodicalIF":2.1,"publicationDate":"2025-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12103914/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144143481","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":"Oral ulcer in systemic lupus erythematosus: a case of methotrexate-induced Epstein-Barr virus infection.","authors":"Nabihah Malik, Maymunah Malik, Shuting Guan, Sahena Haque, Richard Porter","doi":"10.1093/rap/rkaf042","DOIUrl":"10.1093/rap/rkaf042","url":null,"abstract":"","PeriodicalId":21350,"journal":{"name":"Rheumatology Advances in Practice","volume":"9 2","pages":"rkaf042"},"PeriodicalIF":2.1,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12092092/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144111440","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":"Drug induced subacute cutaneous lupus.","authors":"Richard Porter, Jennifer Bendelow, Pippa Watson, Christos Tsekos, Janice Ferguson","doi":"10.1093/rap/rkaf045","DOIUrl":"10.1093/rap/rkaf045","url":null,"abstract":"","PeriodicalId":21350,"journal":{"name":"Rheumatology Advances in Practice","volume":"9 2","pages":"rkaf045"},"PeriodicalIF":2.1,"publicationDate":"2025-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12069228/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144019336","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":"Improving efficiency of a rheumatology outpatient clinic through classification of newly referred patients.","authors":"Sander Dijkstra, Yaël A de Man, Aleida Braaksma, Maurits de Graaf, Hein J Bernelot Moens, Richard J Boucherie","doi":"10.1093/rap/rkae155","DOIUrl":"10.1093/rap/rkae155","url":null,"abstract":"<p><strong>Objectives: </strong>Diagnosing a rheumatological disease in patients newly referred by their general practitioner requires assessment by a rheumatologist and often diagnostic tests. Ideally, these tests are performed prior to the patient's first consultation with the rheumatologist, aiming for quick diagnosis and fewer visits. We retrospectively studied whether a pre-first visit digital patient questionnaire can lead to fewer consultations and faster diagnosis.</p><p><strong>Methods: </strong>We applied machine learning-based binary classification algorithms to questionnaire data of newly referred patients to classify a patient's diagnostic class (inflammatory vs. non-inflammatory). Afterwards, we quantified the rheumatology clinic's benefit when all patients classified to be non-inflammatory are planned for specific diagnostic tests at their first visit.</p><p><strong>Results: </strong>Classification for inflammatory vs. non-inflammatory disease could be done with accuracy of 0.771, sensitivity (recall) of 0.809 and precision of 0.833. When non-inflammatory classified patients receive a blood test before first consultation, on average 0.1 in-person consultations and 0.26 teleconsultations per patient are avoided at the cost of having overdiagnostics for 44% of all newly referred patients. If, in addition to a blood test, the first consultation is also preceded by a radiology examination, on average 0.21 in-person consultations and 0.49 teleconsultations per patient are avoided, at the cost of having overdiagnostics (e.g. only the blood test or the combination of the blood test and radiology examination) for 71% of all newly referred patients.</p><p><strong>Conclusion: </strong>Classification algorithms based on pre-first visit patient questionnaires may shorten the patient journey in a rheumatology outpatient clinic and may therefore improve efficiency.</p>","PeriodicalId":21350,"journal":{"name":"Rheumatology Advances in Practice","volume":"9 2","pages":"rkae155"},"PeriodicalIF":2.1,"publicationDate":"2025-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12007594/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144045617","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":"AI for imaging evaluation in rheumatology: applications of radiomics and computer vision-current status, future prospects and potential challenges.","authors":"Lina Xu, Keno Bressem, Lisa Adams, Denis Poddubnyy, Fabian Proft","doi":"10.1093/rap/rkae147","DOIUrl":"10.1093/rap/rkae147","url":null,"abstract":"<p><p>Inflammatory rheumatic diseases, a diverse group of immune-mediated conditions, are characterized by chronic inflammation that can lead to irreversible damage to joints, bones and organs, posing a significant global health challenge. If left untreated, these conditions can severely deteriorate patients' quality of life, underscoring the importance of timely and accurate diagnosis and appropriate management. Artificial intelligence (AI), including radiomics and computer vision, presents promising advancements in improving the early diagnosis and monitoring of these diseases through the analysis of various imaging modalities such as X-rays, CT scans, MRIs and ultrasounds. This review examines the current state of AI applications in the imaging analysis of inflammatory rheumatic diseases, including RA, SpA, SS, SSc and GCA. AI has demonstrated encouraging results, achieving high sensitivity, specificity and accuracy, often on par with or exceeding expert performance. The review also highlights future opportunities for improving the diagnosis and management of rheumatic diseases, as well as the challenges associated with their clinical implementation.</p>","PeriodicalId":21350,"journal":{"name":"Rheumatology Advances in Practice","volume":"9 2","pages":"rkae147"},"PeriodicalIF":2.1,"publicationDate":"2025-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12007601/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144044304","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}