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Role of the anti-RO/SSA antibody in patients with systemic lupus erythematosus 抗ro /SSA抗体在系统性红斑狼疮患者中的作用
IF 1.2 Q4 RHEUMATOLOGY Pub Date : 2025-03-01 DOI: 10.1016/j.reuma.2025.501816
Paula Pérez Jiménez , Laura Tío Barrera , José Luis Andréu Sánchez , Tarek Carlos Salman-Monte , Irene Carrión-Barberà

Background

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.

Objectives

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.

Methods

The medical records of patients with anti-Ro+ and - SLE, primary SS and SLE/SS overlap have been reviewed.

Results

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.

Conclusions

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.
背景系统性红斑狼疮(SLE)患者的抗 Ro+ 抗体经常给专科医生的诊断和治疗带来挑战,因为他们经常出现疱疹综合征,并与斯约格伦综合征(SS)重叠。迄今为止,这种抗体给系统性红斑狼疮患者带来的临床和预后变异性还没有得到很好的描述。目的 研究系统性红斑狼疮患者抗 Ro 抗体在临床、分析、治疗和预后方面可能产生的影响。此外,我们还分析了所表达的抗 Ro 特征(亚基 52、60 或两者)对疾病表型的可能影响。方法回顾了抗 Ro+ 和 - 系统性红斑狼疮、原发性 SS 和系统性红斑狼疮/SS 重叠患者的病历。结果 与抗-Ro+系统性红斑狼疮相比,抗-Ro+系统性红斑狼疮患者的关节炎、低C4、DNA Crithidia表达和皮质类固醇注射需求较少,但眼干症、口干症、抗-La、抗环瓜氨酸肽表达较多,且与其他风湿病实体重叠。抗Ro+系统性红斑狼疮组和重叠组在多个变量上表现相似。与重叠组相比,SS 组的β2-微球蛋白表达量更高。抗Ro52+患者比抗Ro60+患者伴有更多的雷诺现象。抗Ro+系统性红斑狼疮患者与抗Ro-系统性红斑狼疮和系统性红斑狼疮/SS患者相比,在临床和分析方面存在差异。抗Ro+系统性红斑狼疮患者和重叠组患者的表现相似,但呈现出不同的特征,因此可将其视为不同的疾病表型。不同的抗-Ro血清学特征赋予系统性红斑狼疮和系统性红斑狼疮患者特定的临床和分析特征。
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引用次数: 0
Agreement between cardiovascular risk scores in a high-altitude Andean population with rheumatoid arthritis 高海拔安第斯地区类风湿关节炎患者心血管风险评分的一致性
IF 1.2 Q4 RHEUMATOLOGY Pub Date : 2025-03-01 DOI: 10.1016/j.reuma.2025.501832
Carlos Diaz-Arocutipa , Vidia Lumbe-Diaz , Percy Soto-Becerra

Background

This study aimed to assess the agreement between cardiovascular risk scores in patients with rheumatoid arthritis (RA).

Methods

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.

Results

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 >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.

Conclusion

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.
本研究旨在评估类风湿关节炎(RA)患者心血管风险评分之间的一致性。方法:我们于2024年在秘鲁库斯科的国家阿道夫格瓦拉贝拉斯科医院对成年RA患者进行了横断面研究。使用2019年世界卫生组织心血管风险评分(2019- who - crs)、弗雷明汉风险评分(FRS)和类风湿关节炎扩展心血管风险预测评分(ERS-RA)来估计心血管疾病的10年风险。通过Bland-Altman图和Kappa统计来评估一致性。结果共纳入145例患者。中位年龄为56岁(47-65岁),92%为女性。使用2019-WHO-CRS的中位评分为3% (2-5),FRS为5.4% (2.8-7.9),ERS-RA为5%(2.3-9.4)。以10%为截断点,2019-WHO-CRS、FRS和ERS-RA的心血管高危患者比例分别为7.6%、16.7%和23.2%。在Bland-Altman图中,风险评分之间的一致性界限很大(2019-WHO-CRS与ERS-RA的一致性界限为- 16.8%至1.4%,2019-WHO-CRS与FRS的一致性界限为- 12.8%至2.3%,FRS与ERS-RA的一致性界限为- 11.8%至7.7%)。2019-WHO-CRS评分与FRS评分在预测高风险方面的一致性最高(Kappa统计值:0.56)。我们的研究结果表明,在安第斯地区患有RA的人群中,2019-WHO-CRS、FRS和ERS-RA心血管风险评分存在差异。结论各评分对心血管高危患者的识别差异较大,ERS-AR评分最高。需要进一步的前瞻性研究来评估这些评分的预后表现。
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引用次数: 0
Effect of Plasminogen Activator Inhibitor-1 on extracellular matrix homeostasis in scaffold-free spheroids from human chondrocytes 纤溶酶原激活物抑制剂-1对人软骨细胞无支架球体细胞外基质稳态的影响
IF 1.2 Q4 RHEUMATOLOGY Pub Date : 2025-03-01 DOI: 10.1016/j.reuma.2025.501815
Carlos Suarez-Ahedo , Carlos Martinez-Armenta , Laura E. Martínez-Gómez , Oswaldo González-Mendoza , María de Jesús Hernández Rocha , Gabriela A. Martínez-Nava , Carlos Pineda , Alberto López-Reyes

Introduction

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, in vitro studies have not demonstrated its effect on the expression of ECM homeostasis-related genes.

Methods

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 COL2A1, SOX9, ACAN, COL1A1, MMP3, MMP9, MMP13, ADAMTS4, ADAMTS5, TIMP1, TIMP2, TIMP3, uPA and tPA.

Results

PAI-1 treatment consistently maintained cell viability and chondrocyte spheroid integrity. At the 50 ng/mL concentration, PAI-1 increased the gene expression of COL2A1 and reduced SOX9, ACAN, MMP3, MMP9, TIMP2, and tPA. Moreover, the functional COL2A1/COL1A1 ratio was significantly increased in PAI-1-treated spheroids.

Conclusion

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 SOX9 and ACAN. These findings indicate that the cellular response to PAI-1 is not unidirectional, warranting further investigation to understand its precise biological implications.
骨关节炎研究的新趋势是生物疗法的应用;在这种情况下,使用纤溶酶原激活物抑制剂-1 (PAI-1)被认为是防止骨关节炎(OA)治疗中细胞外基质(ECM)降解的潜在治疗策略。然而,体外研究尚未证实其对ECM稳态相关基因表达的影响。方法利用人OA软骨源性软骨细胞在缺氧条件下生成无支架球体。将球体暴露于PAI-1 24 h,测定细胞活力。然后用qRT-PCR分析ECM组分和降解酶COL2A1、SOX9、ACAN、COL1A1、MMP3、MMP9、MMP13、ADAMTS4、ADAMTS5、TIMP1、TIMP2、TIMP3、uPA和tPA的表达情况。结果spai -1治疗可持续维持细胞活力和软骨细胞球体完整性。在50 ng/mL浓度下,PAI-1增加COL2A1基因的表达,降低SOX9、ACAN、MMP3、MMP9、TIMP2和tPA的表达。此外,在pai -1处理的球体中,COL2A1/COL1A1的功能比值显著增加。结论PAI-1治疗对球体的ECM具有复杂和多方面的影响。虽然它通过降低ECM重塑酶(如MMPs和ADAMTS5)的基因表达来支持基质完整性,但它也会诱导软骨形成相关标记基因(如SOX9和ACAN)的不利变化。这些发现表明,细胞对PAI-1的反应不是单向的,需要进一步研究以了解其确切的生物学意义。
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引用次数: 0
Nailfold capillaroscopy changes in systemic lupus erythematosus patients: Correlation with disease activity and anti-uridin1-ribonucleoprotein antibodies 系统性红斑狼疮患者甲襞毛细血管镜改变:与疾病活动性和抗尿苷-核糖核蛋白抗体相关
IF 1.2 Q4 RHEUMATOLOGY Pub Date : 2025-03-01 DOI: 10.1016/j.reuma.2025.501840
Yasmine S. Makarem , Zahraa I. Selim , Sherif Ismail , Amera Imam Mekkawy , Hanan Galal , Fatma H. El Nouby

Introduction

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.

Aim

To detect different patterns of nailfold capillaroscopic changes in SLE patients, their correlation with SLE disease activity, and anti-U1-RNP antibodies.

Patients and methods

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.

Results

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.

Conclusion

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.
系统性红斑狼疮(SLE)是一种自身免疫性疾病,可引起多种血管并发症,包括内皮细胞损伤。甲襞毛细血管镜检查是评估甲襞毛细血管形态最有效的无创成像技术,约半数SLE患者存在非特异性甲襞毛细血管镜检查异常。抗尿苷-核糖核蛋白抗体存在于系统性红斑狼疮患者中,伴有雷诺现象、肺动脉高压、食管运动障碍、肌病,无严重肾脏受累。目的探讨SLE患者甲襞毛细血管镜下不同形态的变化及其与SLE疾病活动性及抗u1 - rnp抗体的相关性。患者和方法一项病例对照研究包括86例SLE患者,使用SLEDAI-2K评估疾病活动性。所有患者均行甲襞毛细血管镜检查。所有患者均检测抗尿苷-核糖核蛋白抗体。结果抗尿苷-核糖核蛋白抗体与微出血呈显著负相关,抗dsdna抗体阳性与微出血呈显著直接相关。此外,巨毛细血管、静脉丛可见性与较高的ESR和CRP之间存在显著的直接相关性。雷诺现象与SLEDAI-2K、关节肿胀、关节压痛、抗dsdna显著相关。多元线性回归分析显示,微出血和巨毛细血管是红斑狼疮疾病活动性的最显著预测因子。结论我们的研究结果强调了系统性红斑狼疮微血管异常的患病率,包括扭曲、交叉、伸长、微出血和巨毛细血管,强调了NFC在评估微循环和疾病活动性方面的重要性。此外,它增加了越来越多的证据来支持毛细血管异常的预后价值,特别是微出血和巨毛细血管,作为系统性红斑狼疮患者疾病活动的预测因子。甲襞毛细血管镜检查可以评估狼疮活动和潜在的预测严重并发症的风险。
{"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}
引用次数: 0
Diagnostic treatment of dilemma in systemic lupus erythematosus presenting with psychotic symptoms: A case series 以精神病性症状为表现的系统性红斑狼疮困境的诊断治疗:一个病例系列
IF 1.2 Q4 RHEUMATOLOGY Pub Date : 2025-03-01 DOI: 10.1016/j.reuma.2025.501842
Yagmur Sever Fidan , Sumeyye Yasemin Calli , Mehmet Akif Sakiroglu , Omar Alomari
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.
系统性红斑狼疮(SLE)是一种自身免疫性疾病,可引起包括狼疮精神病在内的神经精神症状。本综述通过一系列病例和与现有文献的比较,探讨狼疮精神病的表现和治疗耐药性。我们的病例系列包括4例狼疮精神病患者。前两例以精神病症状为SLE的主要表现,抗精神病药物治疗有耐药性。文献表明,这种耐药性可能是由于免疫因素,如抗核糖体P蛋白抗体和神经递质改变。第三例患者因停止免疫抑制治疗而加重精神病。第四个病例在SLE诊断前几年出现精神病,突出了诊断挑战。MRI和EEG的表现一般无特异性。治疗包括大剂量皮质类固醇、免疫抑制剂和针对个体需要的抗精神病药物。狼疮精神病由于其复杂的发病机制和潜在的治疗耐药性,是一个具有挑战性的诊断和治疗。我们的病例强调了在难治性精神病患者中考虑SLE的必要性和个体化治疗策略的重要性。
{"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}
引用次数: 0
Rare C1q deficiency presenting as pediatric SLE: A case study of two consanguineous siblings 罕见的C1q缺乏表现为小儿SLE:两个近亲兄弟姐妹的病例研究
IF 1.2 Q4 RHEUMATOLOGY Pub Date : 2025-03-01 DOI: 10.1016/j.reuma.2025.501843
Kerem Parlar , Berkay Aktaş , Sena Ladin Sicakyüz , Sezgin Şahin , Özgür Kasapçopur , Serdal Uğurlu
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.
C1q缺乏症是一种罕见的常染色体隐性遗传病,其特征是基因C1qA、C1qB或C1qC突变,可导致sle样疾病。在这里,我们报告了两个患有C1q缺乏症的兄弟姐妹,他们都有C1QA基因的纯合突变。我们的两个病人都有NP受累,兄弟有冻疮病变。C1q缺乏症的诊断被推迟,凸显了临床怀疑和基因检测的重要性。这在SLE的非典型表现和有家族血缘史的病例中尤为重要。
{"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}
引用次数: 0
Presentación del Congreso 大会介绍
IF 1.2 Q4 RHEUMATOLOGY Pub Date : 2025-02-01 DOI: 10.1016/S1699-258X(25)00058-0
{"title":"Presentación del Congreso","authors":"","doi":"10.1016/S1699-258X(25)00058-0","DOIUrl":"10.1016/S1699-258X(25)00058-0","url":null,"abstract":"","PeriodicalId":47115,"journal":{"name":"Reumatologia Clinica","volume":"21 ","pages":"Page I"},"PeriodicalIF":1.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143829967","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}
引用次数: 0
Índice de autores 作者索引
IF 1.2 Q4 RHEUMATOLOGY Pub Date : 2025-02-01 DOI: 10.1016/S1699-258X(25)00065-8
{"title":"Índice de autores","authors":"","doi":"10.1016/S1699-258X(25)00065-8","DOIUrl":"10.1016/S1699-258X(25)00065-8","url":null,"abstract":"","PeriodicalId":47115,"journal":{"name":"Reumatologia Clinica","volume":"21 ","pages":"Pages S373-S381"},"PeriodicalIF":1.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143829966","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}
引用次数: 0
Simultáneas (S01-S36) 同时进行(S01-S36)
IF 1.2 Q4 RHEUMATOLOGY Pub Date : 2025-02-01 DOI: 10.1016/S1699-258X(25)00060-9
{"title":"Simultáneas (S01-S36)","authors":"","doi":"10.1016/S1699-258X(25)00060-9","DOIUrl":"10.1016/S1699-258X(25)00060-9","url":null,"abstract":"","PeriodicalId":47115,"journal":{"name":"Reumatologia Clinica","volume":"21 ","pages":"Pages S28-S56"},"PeriodicalIF":1.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143829962","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}
引用次数: 0
Prevalencia de hidrosadenitis supurativa en pacientes con espondiloartritis axial 轴突性脊柱炎患者的化脓性脊柱炎患病率
IF 1.2 Q4 RHEUMATOLOGY Pub Date : 2025-02-01 DOI: 10.1016/j.reuma.2024.501808
Laura Farran Ortega , Rosa Fornons-Servent , Joan Miquel Nolla , Xavier Juanola Roura

Objectives

To determine the prevalence of hidradenitis suppurativa (HS) in patients with axial spondyloarthritis (AxSpA) and to describe clinical, laboratory, and radiographic characteristics of patients diagnosed with HS.

Patients and methods

We performed a cross-sectional study of a cohort of 265 patients with AxSpA in follow-up at a tertiary hospital. Patients were screened for HS using a questionnaire, with subsequent diagnostic confirmation by a dermatologist. We collected demographic, clinical, laboratory, and radiographic data. Patients were classified by diagnosis of HS. A descriptive analysis and comparison were performed for both groups.

Results

A total of 148 of the 265 patients (55.8%) completed the screening questionnaire. Screening was positive in 9 patients (6.1%), although the diagnosis of HS was confirmed in only 4 (2.7%). Three patients were diagnosed during the study, with a mean diagnostic delay of 14.25 years. All the patients had mild HS (Hurley stage I). When patients with and without HS were compared, the HS group had more smokers (75% vs. 18%; P=.005), greater disease activity according to BASDAI (5.6 ± 2.3 vs. 3.2 ± 2.1; P=.026), less structural damage according to the axial BASRI (1.5 ± 1.3 vs. 5.5 ± 3.5; P<.018) and shorter time since diagnosis of AxSpA (14.7 ± 2.6 vs. 27.8 ± 13.5 years; P=.001). No significant differences were found for the remaining variables studied.

Conclusion

This study suggests that prevalence of HS in patients with AxSpA is higher than the one observed in general population. The knowledge of this association should encourage clinicians to inquire about symptoms of HS and actively search for lesions.
目的确定轴型脊柱炎(AxSpA)患者化脓性汗腺炎(HS)的患病率,并描述诊断为HS的患者的临床、实验室和影像学特征。患者和方法我们对一家三级医院的265例AxSpA患者进行了一项横断面研究。使用问卷对患者进行HS筛查,随后由皮肤科医生进行诊断确认。我们收集了人口统计、临床、实验室和放射学数据。根据HS的诊断对患者进行分类。对两组进行描述性分析和比较。结果265例患者中有148例(55.8%)完成了筛查问卷。9例(6.1%)患者筛查呈阳性,但仅有4例(2.7%)确诊为HS。研究期间确诊了3例患者,平均诊断延迟14.25年。所有患者均为轻度HS (Hurley期)。当有HS和没有HS的患者进行比较时,HS组吸烟者较多(75% vs. 18%;P= 0.005),根据BASDAI,疾病活动性更高(5.6±2.3 vs. 3.2±2.1;P= 0.026),根据轴向BASRI(1.5±1.3 vs. 5.5±3.5;P< 0.018)和较短的诊断时间(14.7±2.6 vs. 27.8±13.5年;P =措施)。在研究的其他变量中没有发现显著差异。结论AxSpA患者HS患病率高于普通人群。这种关联的知识应该鼓励临床医生询问HS的症状,并积极寻找病变。
{"title":"Prevalencia de hidrosadenitis supurativa en pacientes con espondiloartritis axial","authors":"Laura Farran Ortega ,&nbsp;Rosa Fornons-Servent ,&nbsp;Joan Miquel Nolla ,&nbsp;Xavier Juanola Roura","doi":"10.1016/j.reuma.2024.501808","DOIUrl":"10.1016/j.reuma.2024.501808","url":null,"abstract":"<div><h3>Objectives</h3><div>To determine the prevalence of hidradenitis suppurativa (HS) in patients with axial spondyloarthritis (AxSpA) and to describe clinical, laboratory, and radiographic characteristics of patients diagnosed with HS.</div></div><div><h3>Patients and methods</h3><div>We performed a cross-sectional study of a cohort of 265 patients with AxSpA in follow-up at a tertiary hospital. Patients were screened for HS using a questionnaire, with subsequent diagnostic confirmation by a dermatologist. We collected demographic, clinical, laboratory, and radiographic data. Patients were classified by diagnosis of HS. A descriptive analysis and comparison were performed for both groups.</div></div><div><h3>Results</h3><div>A total of 148 of the 265 patients (55.8%) completed the screening questionnaire. Screening was positive in 9 patients (6.1%), although the diagnosis of HS was confirmed in only 4 (2.7%). Three patients were diagnosed during the study, with a mean diagnostic delay of 14.25 years. All the patients had mild HS (Hurley stage I). When patients with and without HS were compared, the HS group had more smokers (75% vs. 18%; <em>P</em>=.005), greater disease activity according to BASDAI (5.6<!--> <!-->±<!--> <!-->2.3 vs. 3.2<!--> <!-->±<!--> <!-->2.1; <em>P</em>=.026), less structural damage according to the axial BASRI (1.5<!--> <!-->±<!--> <!-->1.3 vs. 5.5<!--> <!-->±<!--> <!-->3.5; <em>P</em>&lt;.018) and shorter time since diagnosis of AxSpA (14.7<!--> <!-->±<!--> <!-->2.6 vs. 27.8<!--> <!-->±<!--> <!-->13.5 years; <em>P</em>=.001). No significant differences were found for the remaining variables studied.</div></div><div><h3>Conclusion</h3><div>This study suggests that prevalence of HS in patients with AxSpA is higher than the one observed in general population. The knowledge of this association should encourage clinicians to inquire about symptoms of HS and actively search for lesions.</div></div>","PeriodicalId":47115,"journal":{"name":"Reumatologia Clinica","volume":"21 2","pages":"Article 501808"},"PeriodicalIF":1.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143386757","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}
引用次数: 0
期刊
Reumatologia Clinica
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