Reumatologia Clinica最新文献

{"title":"Tumor de células gigantes de las vainas tendinosas","authors":"Carmen Raya-Santos , José Antonio Bernal , José Rosas , María Cabezas Macían","doi":"10.1016/j.reuma.2025.501844","DOIUrl":"10.1016/j.reuma.2025.501844","url":null,"abstract":"","PeriodicalId":47115,"journal":{"name":"Reumatologia Clinica","volume":"21 3","pages":"Article 501844"},"PeriodicalIF":1.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143760815","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":"Análisis situacional de la reumatología intervencionista en España: estudio observacional multicéntrico","authors":"Marco Aurelio Ramírez Huaranga ,&nbsp;Juan Carlos Quevedo Abeledo ,&nbsp;Julio Sánchez Martin ,&nbsp;Álvaro García Martos ,&nbsp;Angel Estuardo Plasencia Ezaine ,&nbsp;David Castro Corredor ,&nbsp;Vanesa Hernández Hernández ,&nbsp;Yanira Pérez Vera ,&nbsp;Enrique Ornilla Laraundogoitia ,&nbsp;Rocío Arenal Lopez ,&nbsp;Félix Manuel Francisco Hernández ,&nbsp;Cristina Zamora Ramos ,&nbsp;Paz Collado Ramos ,&nbsp;Fernando Felipe Poma Vera ,&nbsp;Javier Seoane Romero ,&nbsp;Tamara Libertad Rodríguez Araya ,&nbsp;en representación del Grupo de Trabajo INTERVSER","doi":"10.1016/j.reuma.2025.501850","DOIUrl":"10.1016/j.reuma.2025.501850","url":null,"abstract":"<div><h3>Introduction</h3><div>Interventional procedures are highly useful and applicable in rheumatology for degenerative and inflammatory diseases such a therapeutic alternative available for our patients.</div></div><div><h3>Objective</h3><div>To describe the current clinical characteristics of interventional procedures in rheumatology departments in our country and to identify the training needs in this area.</div></div><div><h3>Material and methods</h3><div>This is a multicenter, observational, descriptive, and cross-sectional study conducted through a survey sent to all heads of rheumatology departments/sections across the national territory, registered with the Spanish Society of Rheumatology.</div></div><div><h3>Results</h3><div>A total of 38 appropriately completed and valid surveys were received for analysis (56% of those sent). A percentage of 94.7 of the departments have one or more ultrasound machines, and 60.53% have a designated physical space specifically for performing procedures. A percentage of 97.73 perform joint injections, 31.58% perform sacroiliac joint injections, 21.05% perform lumbar facet injections, 15.79% perform myofascial injections, 13.16% perform epidural injections, and only 5.26% have access to radiofrequency therapy. Other procedures described were synovial biopsy (15.79%), salivary gland biopsy (10.53%), and isotopic synoviorthesis (7.89%). In 89.47% of the departments, the procedures are part of the rheumatology activities services, and 73.68% have nursing/auxiliary nursing support. Finally, 81.6% agree that there is insufficient specific training in performing more complex procedures.</div></div><div><h3>Conclusion</h3><div>The 21st-century rheumatologist must also be trained in performing interventional procedures for the treatment of mechanical and/or inflammatory pain, with the aim of incorporating them into their daily clinical practice and continuing to expand the range of care we can offer our patients.</div></div>","PeriodicalId":47115,"journal":{"name":"Reumatologia Clinica","volume":"21 3","pages":"Article 501850"},"PeriodicalIF":1.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143760853","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":"Acoplamiento ventriculoarterial derecho como marcador de daño miocárdico subclínico en artritis reumatoide","authors":"Tomás Miranda-Aquino ,&nbsp;Diego Alejandro Ramos-Aguas ,&nbsp;Silvia Esmeralda Pérez-Topete ,&nbsp;María del Socorro Cepeda-Rocha ,&nbsp;Xochitl Citlalli Gómez-Gómez ,&nbsp;Daniel Ochoa-Castillo ,&nbsp;Sergio Cerpa-Cruz ,&nbsp;Verónica González-Díaz ,&nbsp;Christian González-Padilla ,&nbsp;Jorge Eduardo Hernández-del Río","doi":"10.1016/j.reuma.2025.501841","DOIUrl":"10.1016/j.reuma.2025.501841","url":null,"abstract":"<div><h3>Introduction</h3><div>Right ventriculoarterial coupling (RVAC) is altered early before presenting right ventricular (RV) dysfunction and pulmonary hypertension; its measurement in patients with rheumatoid arthritis (RA) has been barely studied.</div></div><div><h3>Objectives</h3><div>To determine if there is a difference in RVAC in patients with RA. To investigate if there is an association in patients with RA to present abnormal RVAC.</div></div><div><h3>Methods</h3><div>A single-center, analytical, cross-sectional, observational study was performed. Patients with a diagnosis of RA were included according to the ACR/EULAR 2010 classification criteria, without any other comorbidity, and the echocardiograms were made at the Hospital Civil de Guadalajara Fray Antonio Alcalde. Patients were compared with healthy controls matched by age and gender. The clinical, laboratory and echocardiographic variables were contrasted. The RVAC was determined with the RV free wall longitudinal strain/pulmonary artery systolic pressure ratio.</div></div><div><h3>Results</h3><div>Fifty one patients were included in each group. Among the echocardiographic variables, it was found that patients with RA had a greater RV diastolic area and the pulmonary artery systolic pressure; while the RV fractional shortening, the RV free wall longitudinal strain and the RVAC were lower. RA was independently associated to an abnormal RVAC.</div></div><div><h3>Conclusion</h3><div>The RV subclinical myocardial damage, determined by the RVAC, is present in patients with RA, and it was associated with an abnormal ventriculoarterial coupling.</div></div>","PeriodicalId":47115,"journal":{"name":"Reumatologia Clinica","volume":"21 3","pages":"Article 501841"},"PeriodicalIF":1.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143760905","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":"The feasibility and acceptability of outdoor sessions as an add-on of an online multicomponent program (FIBROWALK) for fibromyalgia: A pilot randomized controlled trial","authors":"Mayte Serrat ,&nbsp;Jaime Navarrete ,&nbsp;Carla Rodríguez-Freire ,&nbsp;Estíbaliz Royuela-Colomer ,&nbsp;Miriam Almirall ,&nbsp;Rubén Nieto ,&nbsp;Jesús Montero-Marín ,&nbsp;Juan V. Luciano ,&nbsp;Albert Feliu-Soler","doi":"10.1016/j.reuma.2025.501817","DOIUrl":"10.1016/j.reuma.2025.501817","url":null,"abstract":"<div><h3>Introduction and objectives</h3><div>The given text describes a pilot randomized controlled trial aimed at evaluating the feasibility and acceptability of outdoor sessions as an add-on to an online multicomponent program (FIBROWALK) for fibromyalgia (FM) patients.</div></div><div><h3>Materials and methods</h3><div>The trial involved 110 participants with FM (99% women; mean age of 51.89<!--> <!-->±<!--> <!-->1.89 years) from a tertiary hospital in Spain who were randomly assigned to either the online FIBROWALK program (<em>n</em> <!-->=<!--> <!-->38) or the blended FIBROWALK program arm (<em>n</em> <!-->=<!--> <!-->61; online FIBROWALK plus 4 outdoor sessions).</div></div><div><h3>Results</h3><div>Overall, attrition was minimal (14.01%) and adherence to the outdoor session was modest (52% of the group attended at least one outdoor session). Participants’ expectations and opinions were positive. Paired-samples <em>t</em>-tests for examining within-group differences showed that participants in each arm had significantly improved functional impairment, anxious-depressive symptomatology, physical function, and fear of pain symptoms. Analysis of covariance for examining between-group differences showed that the blended FIBROWALK had a significantly higher effect on psychological distress than the online FIBROWALK (<em>F</em>(1,96)<!--> <!-->=<!--> <!-->4.23; <em>p</em> <!-->=<!--> <!-->.042; Cohen's <em>d</em> <!-->=<!--> <!-->.60).</div></div><div><h3>Conclusions</h3><div>These results suggest that the blended program was feasible, secure, and acceptable to the participants. Although the online FIBROWALK program alone may be sufficient for managing fibromyalgia symptoms, the addition of outdoor sessions may provide significant additional benefits. Future definitive randomized controlled trials are warranted.</div></div>","PeriodicalId":47115,"journal":{"name":"Reumatologia Clinica","volume":"21 3","pages":"Article 501817"},"PeriodicalIF":1.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143760906","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":"Role of the anti-RO/SSA antibody in patients with systemic lupus erythematosus","authors":"Paula Pérez Jiménez ,&nbsp;Laura Tío Barrera ,&nbsp;José Luis Andréu Sánchez ,&nbsp;Tarek Carlos Salman-Monte ,&nbsp;Irene Carrión-Barberà","doi":"10.1016/j.reuma.2025.501816","DOIUrl":"10.1016/j.reuma.2025.501816","url":null,"abstract":"<div><h3>Background</h3><div>Patients with systemic lupus erythematosus (SLE) and anti-Ro+ antibody frequently pose a diagnostic and therapeutic challenge for the specialist, as they frequently present sicca syndrome, overlapping with Sjögren's syndrome (SS). To date, the clinical and prognostic variability that this antibody confers on SLE patients is not well characterized.</div></div><div><h3>Objectives</h3><div>To investigate the possible clinical, analytical, therapeutic and prognostic implications of anti-Ro antibody in SLE. Furthermore, we analyzed the possible implications of the expressed anti-Ro profile (subunit 52, 60 or both) on the disease phenotype.</div></div><div><h3>Methods</h3><div>The medical records of patients with anti-Ro+ and - SLE, primary SS and SLE/SS overlap have been reviewed.</div></div><div><h3>Results</h3><div>Anti-Ro+ SLE presents less arthritis, low C4, expression of DNA Crithidia and need for bolus corticosteroids than anti-Ro− SLE, but more xerophthalmia, xerostomia, expression of anti-La, anti-cyclic citrullinated peptide and overlap with other rheumatological entities. Anti-Ro+ SLE and the overlap group behave similarly for multiple variables. SS group shows a higher expression of β2-microglobulin compared to the overlap group. Anti-Ro52+ patients associate more Raynaud's phenomenon than anti-Ro60+ patients. The latter express more lupus anticoagulant and antiphospholipid antibodies than the group with both subunits.</div></div><div><h3>Conclusions</h3><div>The presence of anti-Ro+ in patients with SLE provides clinical and analytical differences compared to patients with anti-Ro− SLE and SLE/SS. anti-Ro+ SLE and the overlap group behave similarly, but present differential characteristics that postulate them as separate phenotypes of the disease. The different serological profiles of anti-Ro confer specific clinical and analytical characteristics in patients with SLE and SS.</div></div>","PeriodicalId":47115,"journal":{"name":"Reumatologia Clinica","volume":"21 3","pages":"Article 501816"},"PeriodicalIF":1.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143760907","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":"Agreement between cardiovascular risk scores in a high-altitude Andean population with rheumatoid arthritis","authors":"Carlos Diaz-Arocutipa ,&nbsp;Vidia Lumbe-Diaz ,&nbsp;Percy Soto-Becerra","doi":"10.1016/j.reuma.2025.501832","DOIUrl":"10.1016/j.reuma.2025.501832","url":null,"abstract":"<div><h3>Background</h3><div>This study aimed to assess the agreement between cardiovascular risk scores in patients with rheumatoid arthritis (RA).</div></div><div><h3>Methods</h3><div>We conducted a cross-sectional study of adult patients with RA at the Hospital Nacional Adolfo Guevara Velasco in Cusco-Peru in 2024. The 2019 World Health Organization cardiovascular risk score (2019-WHO-CRS), Framingham risk score (FRS), and Expanded cardiovascular Risk prediction Score for Rheumatoid Arthritis (ERS-RA) were used to estimate the 10-year risk of cardiovascular disease. Agreement was assessed through Bland–Altman plots and Kappa statistics.</div></div><div><h3>Results</h3><div>A total of 145 patients were included. The median age was 56 years (47–65) and 92% were female. The median scores using the 2019-WHO-CRS was 3% (2–5), FRS was 5.4% (2.8–7.9), and ERS-RA was 5% (2.3–9.4). Using a cut-off point &gt;10%, the proportion of patients with high cardiovascular risk was 7.6%, 16.7%, and 23.2% for 2019-WHO-CRS, FRS, and ERS-RA, respectively. In the Bland–Altman plots, the limits of agreement were wide between risk scores (−16.8% to 1.4% for 2019-WHO-CRS vs. ERS-RA, −12.8% to 2.3% for 2019-WHO-CRS vs. FRS, and −11.8% to 7.7% for FRS vs. ERS-RA). The highest agreement (Kappa statistic: 0.56) in predicting high risk was between 2019-WHO-CRS and FRS scores. Our results suggest that there was disagreement between the 2019-WHO-CRS, FRS, and ERS-RA cardiovascular risk scores in an Andean population with RA.</div></div><div><h3>Conclusion</h3><div>The identification of patients at high cardiovascular risk varied considerably among the scores, with the ERS-AR yielding the highest values. Further prospective studies evaluating the prognostic performance of these scores are needed.</div></div>","PeriodicalId":47115,"journal":{"name":"Reumatologia Clinica","volume":"21 3","pages":"Article 501832"},"PeriodicalIF":1.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143760908","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":"Effect of Plasminogen Activator Inhibitor-1 on extracellular matrix homeostasis in scaffold-free spheroids from human chondrocytes","authors":"Carlos Suarez-Ahedo ,&nbsp;Carlos Martinez-Armenta ,&nbsp;Laura E. Martínez-Gómez ,&nbsp;Oswaldo González-Mendoza ,&nbsp;María de Jesús Hernández Rocha ,&nbsp;Gabriela A. Martínez-Nava ,&nbsp;Carlos Pineda ,&nbsp;Alberto López-Reyes","doi":"10.1016/j.reuma.2025.501815","DOIUrl":"10.1016/j.reuma.2025.501815","url":null,"abstract":"<div><h3>Introduction</h3><div>New trends in osteoarthritis research focus on the use of biological therapy; in this context, the use of Plasminogen Activator Inhibitor-1 (PAI-1) is considered a potential therapeutic strategy to prevent extracellular matrix (ECM) degradation in osteoarthritis (OA) management. However, <em>in vitro</em> studies have not demonstrated its effect on the expression of ECM homeostasis-related genes.</div></div><div><h3>Methods</h3><div>Human OA cartilage-derived chondrocytes were used to generate scaffold-free spheroids under hypoxia conditions. The spheroids were exposed to PAI-1 for 24<!--> <!-->h, and cell viability was measured. Then qRT-PCR was used to analyze the expression of ECM components and degradative enzymes, including <em>COL2A1</em>, <em>SOX9</em>, <em>ACAN</em>, <em>COL1A1</em>, <em>MMP3</em>, <em>MMP9</em>, <em>MMP13</em>, <em>ADAMTS4</em>, <em>ADAMTS5</em>, <em>TIMP1</em>, <em>TIMP2</em>, <em>TIMP3</em>, <em>uPA</em> and <em>tPA</em>.</div></div><div><h3>Results</h3><div>PAI-1 treatment consistently maintained cell viability and chondrocyte spheroid integrity. At the 50<!--> <!-->ng/mL concentration, PAI-1 increased the gene expression of <em>COL2A1</em> and reduced <em>SOX9</em>, <em>ACAN</em>, <em>MMP3</em>, <em>MMP9</em>, <em>TIMP2</em>, and <em>tPA</em>. Moreover, the functional COL2A1/COL1A1 ratio was significantly increased in PAI-1-treated spheroids.</div></div><div><h3>Conclusion</h3><div>Our results suggest that PAI-1 treatment exerts a complex and multifaceted influence on spheroids’ ECM. While it supports matrix integrity by reducing the gene expression of ECM remodeling enzymes, such as MMPs and ADAMTS5, it also induces unfavorable changes in chondrogenesis-related marker genes, such as <em>SOX9</em> and <em>ACAN</em>. These findings indicate that the cellular response to PAI-1 is not unidirectional, warranting further investigation to understand its precise biological implications.</div></div>","PeriodicalId":47115,"journal":{"name":"Reumatologia Clinica","volume":"21 3","pages":"Article 501815"},"PeriodicalIF":1.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143760812","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":"Nailfold capillaroscopy changes in systemic lupus erythematosus patients: Correlation with disease activity and anti-uridin1-ribonucleoprotein antibodies","authors":"Yasmine S. Makarem ,&nbsp;Zahraa I. Selim ,&nbsp;Sherif Ismail ,&nbsp;Amera Imam Mekkawy ,&nbsp;Hanan Galal ,&nbsp;Fatma H. El Nouby","doi":"10.1016/j.reuma.2025.501840","DOIUrl":"10.1016/j.reuma.2025.501840","url":null,"abstract":"<div><h3>Introduction</h3><div>Systemic lupus erythematosus (SLE) is an autoimmune disease that causes multiple vascular complications, including endothelial cell damage. Nailfold capillaroscopy is the most effective non-invasive imaging technique for assessing the morphology of nailfold capillaries, and approximately half of the SLE patients have non-specific nailfold capillaroscopy abnormalities. Anti-uridin1-ribonucleoprotein antibodies are present in systemic lupus erythematosus patients with Raynaud's phenomenon, pulmonary artery hypertension, esophageal dysmotility, myopathy, and no severe renal involvement.</div></div><div><h3>Aim</h3><div>To detect different patterns of nailfold capillaroscopic changes in SLE patients, their correlation with SLE disease activity, and anti-U1-RNP antibodies.</div></div><div><h3>Patients and methods</h3><div>A case–control study included eighty-six SLE patients, and disease activity was assessed using the SLEDAI-2K. All patients had a nailfold capillaroscopic examination. Anti-uridin1-ribonucleoprotein antibodies were measured in all patients.</div></div><div><h3>Results</h3><div>Anti-uridin1-ribonucleoprotein antibodies had a significant inverse correlation with microhemorrhages and a significant direct relationship between anti-dsDNA antibody positivity and the presence of microhemorrhage. Additionally, a significant direct correlation was found between giant capillaries, venous plexus visibility, and higher ESR and CRP. Raynaud's phenomenon was significantly correlated with SLEDAI-2K, swollen joints, tender joints, and anti-dsDNA. Multiple linear regression analysis revealed that microhemorrhages and giant capillaries were the most significant predictors of lupus disease activity.</div></div><div><h3>Conclusion</h3><div>Our findings highlight the prevalence of microvascular abnormalities in systemic lupus erythematosus, including tortuosity, crossing, elongation, microhemorrhages, and giant capillaries, emphasizing the importance of NFC in assessing microcirculation and disease activity. Also, it adds to the growing body of evidence supporting the prognostic value of capillary abnormalities, particularly microhemorrhages and giant capillaries, as predictors of disease activity in systemic lupus erythematosus patients. Nailfold capillaroscopic examination can assess lupus activity and potentially predict the risk of serious complications.</div></div>","PeriodicalId":47115,"journal":{"name":"Reumatologia Clinica","volume":"21 3","pages":"Article 501840"},"PeriodicalIF":1.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143760852","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":"Diagnostic treatment of dilemma in systemic lupus erythematosus presenting with psychotic symptoms: A case series","authors":"Yagmur Sever Fidan ,&nbsp;Sumeyye Yasemin Calli ,&nbsp;Mehmet Akif Sakiroglu ,&nbsp;Omar Alomari","doi":"10.1016/j.reuma.2025.501842","DOIUrl":"10.1016/j.reuma.2025.501842","url":null,"abstract":"<div><div>Systemic lupus erythematosus (SLE) is an autoimmune disease causing neuropsychiatric symptoms, including lupus psychosis. This review examines the presentation and treatment resistance of lupus psychosis through a case series and comparison with existing literature. Our case series includes four patients with lupus psychosis. The first two cases showed psychotic symptoms as the primary manifestation of SLE, resistant to antipsychotic treatment. Literature suggests that this resistance may be due to immunological factors, such as anti-ribosomal P protein antibodies, and neurotransmitter alterations. The third case involved psychosis exacerbated by discontinuation of immunosuppressive therapy. The fourth case presented psychosis years before an SLE diagnosis, highlighting diagnostic challenges. MRI and EEG findings were generally nonspecific. Treatments included high-dose corticosteroids, immunosuppressive agents, and antipsychotic medications tailored to individual needs. Lupus psychosis is challenging to diagnose and treat due to its complex pathogenesis and potential for treatment resistance. Our cases highlight the need for considering SLE in patients with treatment-resistant psychosis and the importance of individualized treatment strategies.</div></div>","PeriodicalId":47115,"journal":{"name":"Reumatologia Clinica","volume":"21 3","pages":"Article 501842"},"PeriodicalIF":1.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143760813","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":"Rare C1q deficiency presenting as pediatric SLE: A case study of two consanguineous siblings","authors":"Kerem Parlar ,&nbsp;Berkay Aktaş ,&nbsp;Sena Ladin Sicakyüz ,&nbsp;Sezgin Şahin ,&nbsp;Özgür Kasapçopur ,&nbsp;Serdal Uğurlu","doi":"10.1016/j.reuma.2025.501843","DOIUrl":"10.1016/j.reuma.2025.501843","url":null,"abstract":"<div><div>C1q deficiency is a rare autosomal recessive genetic condition characterized by mutations in genes C1qA, C1qB, or C1qC which can cause a SLE-like disease. Here, we report the cases of two siblings with C1q deficiency, both of whom had homozygous mutations in the C1QA gene. Both of our patients had NP involvement, and the brother had chilblain lesions. Diagnosis of C1q deficiency was delayed, highlighting the importance of clinical suspicion and genetic testing. This is especially crucial in cases with atypical presentations of SLE and a family history of consanguinity.</div></div>","PeriodicalId":47115,"journal":{"name":"Reumatologia Clinica","volume":"21 3","pages":"Article 501843"},"PeriodicalIF":1.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143760814","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}