Journal of Scleroderma and Related Disorders最新文献

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Systemic sclerosis and primary biliary cholangitis: Longitudinal data to determine the outcomes. 系统性硬化症和原发性胆汁性胆管炎:确定结果的纵向数据。
IF 1.4
Journal of Scleroderma and Related Disorders Pub Date : 2023-10-01 Epub Date: 2023-04-04 DOI: 10.1177/23971983231155948
Gemma Lepri, Paolo Airò, Oliver Distler, Kristofer Andréasson, Yolanda Braun-Moscovici, Eric Hachulla, Alexandra Balbir-Gurman, Ellen De Langhe, Simona Rednic, Francesca Ingegnoli, Edoardo Rosato, Laura Groseanu, Ruxandra Ionescu, Silvia Bellando-Randone, Liudmila Garzanova, Lorenzo Beretta, Chiara Bellocchi, Sergey Moiseev, Pavel Novikov, Iulia Szabo, Dorota Krasowska, Veronica Codullo, Ulrich A Walker, Chrysoula Manolaraki, Serena Guiducci, Marie-Elise Truchetet, Florenzo Iannone, Lorenzo Tofani, Cosimo Bruni, Vanessa Smith, Giovanna Cuomo, Martin Krusche, Marco Matucci-Cerinic, Yannick Allanore
{"title":"Systemic sclerosis and primary biliary cholangitis: Longitudinal data to determine the outcomes.","authors":"Gemma Lepri, Paolo Airò, Oliver Distler, Kristofer Andréasson, Yolanda Braun-Moscovici, Eric Hachulla, Alexandra Balbir-Gurman, Ellen De Langhe, Simona Rednic, Francesca Ingegnoli, Edoardo Rosato, Laura Groseanu, Ruxandra Ionescu, Silvia Bellando-Randone, Liudmila Garzanova, Lorenzo Beretta, Chiara Bellocchi, Sergey Moiseev, Pavel Novikov, Iulia Szabo, Dorota Krasowska, Veronica Codullo, Ulrich A Walker, Chrysoula Manolaraki, Serena Guiducci, Marie-Elise Truchetet, Florenzo Iannone, Lorenzo Tofani, Cosimo Bruni, Vanessa Smith, Giovanna Cuomo, Martin Krusche, Marco Matucci-Cerinic, Yannick Allanore","doi":"10.1177/23971983231155948","DOIUrl":"10.1177/23971983231155948","url":null,"abstract":"<p><strong>Background: </strong>Several studies described the cross-sectional characteristics of systemic sclerosis patients and coexisting primary biliary cholangitis, but longitudinal prognostic data are lacking.</p><p><strong>Aims: </strong>To describe the systemic sclerosis-primary biliary cholangitis phenotype, including baseline characteristics and outcomes.</p><p><strong>Methods: </strong>We performed a multicentre the European Scleroderma Trials and Research Group study of systemic sclerosis patients with primary biliary cholangitis or with primary biliary cholangitis-specific antibodies, matched with systemic sclerosis controls free from hepatobiliary involvement matched for disease duration and cutaneous subset. Data were recorded at baseline and at the last available visit.</p><p><strong>Results: </strong>A total of 261 patients were enrolled (115 primary biliary cholangitis-systemic sclerosis, 161 systemic sclerosis). At baseline, systemic sclerosis-primary biliary cholangitis patients had a higher prevalence of anti-centromere antibodies (<i>p</i> = 0.0023) and a lower prevalence of complete absence of digital ulcers. The milder vascular involvement was confirmed at follow-up when crucial differences emerged in the percentage of patients experiencing digital ulcers; a significantly higher number of patients who never experienced digital ulcers were observed among primary biliary cholangitis-systemic sclerosis patients (<i>p</i> = 0.0015). Moreover, a greater incidence of pulmonary arterial hypertension (<i>p</i> < 0.001) and of conduction blocks (<i>p</i> = 0.0256) was observed in systemic sclerosis patients without primary biliary cholangitis. Patients with primary biliary cholangitis had higher levels of liver enzymes at baseline than systemic sclerosis patients; a significant decrease in liver enzymes was observed at follow-up. Out of 18 patients with cholangitis, one received a liver transplant at follow-up.</p><p><strong>Conclusion: </strong>Our data show that systemic sclerosis-primary biliary cholangitis exhibit a mild systemic sclerosis and primary biliary cholangitis phenotype with outcomes being in general favourable.</p>","PeriodicalId":17036,"journal":{"name":"Journal of Scleroderma and Related Disorders","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10515998/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41148197","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}
引用次数: 0
Prevalence of Raynaud's phenomenon in patients with peripheral neuropathy. 周围神经病变患者雷诺现象的患病率。
IF 1.4
Journal of Scleroderma and Related Disorders Pub Date : 2023-10-01 Epub Date: 2023-02-27 DOI: 10.1177/23971983231155945
Rudresh Shukla, Chang Liu, Sarah Wilkinson, David Gosal, Ariane L Herrick
{"title":"Prevalence of Raynaud's phenomenon in patients with peripheral neuropathy.","authors":"Rudresh Shukla, Chang Liu, Sarah Wilkinson, David Gosal, Ariane L Herrick","doi":"10.1177/23971983231155945","DOIUrl":"10.1177/23971983231155945","url":null,"abstract":"","PeriodicalId":17036,"journal":{"name":"Journal of Scleroderma and Related Disorders","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10516000/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41122995","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}
引用次数: 0
A very rare cause of blue finger: A case-based review. 蓝手指的一个非常罕见的原因:基于案例的综述。
IF 1.4
Journal of Scleroderma and Related Disorders Pub Date : 2023-10-01 Epub Date: 2023-03-26 DOI: 10.1177/23971983231162679
Fadi Hassan, Amir Khoury, Jamal Awad, Helana Jeries, Mohammad E Naffaa
{"title":"A very rare cause of blue finger: A case-based review.","authors":"Fadi Hassan, Amir Khoury, Jamal Awad, Helana Jeries, Mohammad E Naffaa","doi":"10.1177/23971983231162679","DOIUrl":"10.1177/23971983231162679","url":null,"abstract":"<p><strong>Introduction: </strong>Cryofibrinogen is an abnormal, cold-insoluble protein composed of a combination of fibrinogen, fibrin, and fibronectin. Cryofibrinogenemia can be essential (e.g. primary) or secondary to various conditions. While low levels of cryofibrinogen can be seen in asymptomatic healthy individuals without evidence of clinical features typical of cryofibrinogenemia, cryofibrinogenemia associated with clinical features is considered very rare. The clinical features of cryofibrinogenemia ranges from skin manifestations, including Raynaud's phenomenon and livedo reticularis, to more severe organ-threatening manifestations such as tissue ischemia and gangrene.</p><p><strong>Case description: </strong>We report a case of a 48-year-old male who presented with blue finger and palpable purpura on his distal extremities. Laboratory workup was positive for anti-nuclear antibodies, anti-double-stranded DNA, anti-ribonucleoprotein, and rheumatoid factor, while antineutrophil cytoplasmic antibodies and cryoglobulins were negative. Testing for hypercoagulable states and infectious etiologies was unrevealing. Later, angiographic computed tomography showed multiple pulmonary embolisms and disruption of blood flow to the left fifth digit. As the aforementioned workup could not explain the presence of the thrombus by a thromboembolic cause, a search for an in situ cause other than antiphospholipid syndrome was initiated and concentrated mainly on cryofibrinogenemia. Blood samples collected using prewarmed anticoagulant containing tubes were sent to central lab familiar with performing the test. Two weeks later, a positive result for the presence of cryofibrinogen confirmed the diagnosis of cryofibrinogenemia. Due to the presence of multiple signs compatible with mixed connective tissue disease, he was diagnosed with cryofibrinogenemia secondary to mixed connective tissue disease, and treatment with prednisone, low-molecular-weight heparin, prostacyclin and hydroxychloroquine was initiaed with favorable outcome.</p><p><strong>Conclusion: </strong>Cryofibrinogenemia is a rare and underdiagnosed condition. Clinicians should be aware of this cryopathy especially in the cases of Raynaud's phenomenon and ischemic ulcers not explained by other causes. Precautions must be taken during the diagnostic process, and therapy should be given as soon as possible.</p>","PeriodicalId":17036,"journal":{"name":"Journal of Scleroderma and Related Disorders","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10515991/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41134054","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}
引用次数: 0
The long-term course of the Health Assessment Questionnaire in patients with systemic sclerosis. 系统性硬化症患者健康评估问卷的长期过程。
IF 2
Journal of Scleroderma and Related Disorders Pub Date : 2023-10-01 Epub Date: 2023-06-21 DOI: 10.1177/23971983231181719
Sophie Ie Liem, Sytske Anne Bergstra, Jacopo Ciaffi, Coen van der Meulen, David A Ueckert, Marisca R Schriemer, Tom Wj Huizinga, Theodora Pm Vliet Vlieland, Jeska K de Vries-Bouwstra
{"title":"The long-term course of the Health Assessment Questionnaire in patients with systemic sclerosis.","authors":"Sophie Ie Liem,&nbsp;Sytske Anne Bergstra,&nbsp;Jacopo Ciaffi,&nbsp;Coen van der Meulen,&nbsp;David A Ueckert,&nbsp;Marisca R Schriemer,&nbsp;Tom Wj Huizinga,&nbsp;Theodora Pm Vliet Vlieland,&nbsp;Jeska K de Vries-Bouwstra","doi":"10.1177/23971983231181719","DOIUrl":"https://doi.org/10.1177/23971983231181719","url":null,"abstract":"<p><strong>Objective: </strong>The Health Assessment Questionnaire-Disability Index is an important outcome measure reflecting functional disability, but knowledge on its course over time in patients with systemic sclerosis is scarce. Therefore, we investigated the long-term course of the Health Assessment Questionnaire-Disability Index and its association with baseline characteristics in systemic sclerosis patients.</p><p><strong>Methods: </strong>Systemic sclerosis patients, fulfilling the European League Against Rheumatism and the American College of Rheumatology 2013 criteria, were included from the Leiden Combined Care in Systemic Sclerosis cohort with annual assessments including the Scleroderma Health Assessment Questionnaire-Disability Index (range = 0-3). The course of the Health Assessment Questionnaire-Disability Index was evaluated over the total follow-up (baseline to last available Health Assessment Questionnaire-Disability Index) and between yearly visits. Based on a minimal clinical important difference of 0.22, courses were categorized into worsening, stable or improvement. The course of the Health Assessment Questionnaire-Disability Index over time was evaluated with linear mixed models. Baseline characteristics were compared between patients with a worsening or improvement of the Health Assessment Questionnaire-Disability Index over the total follow-up period with logistic regression analyses.</p><p><strong>Results: </strong>A total of 517 systemic sclerosis patients were included, with a median follow-up of 7 years (interquartile range = 4-9; 2649 visits) and a baseline Health Assessment Questionnaire-Disability Index of 0.625 (interquartile range = 0.125-1.25). On group level, the Health Assessment Questionnaire-Disability Index is stable with an annual increase of 0.019 (95% confidence interval = 0.011 to 0.027). Looking at subgroups, patients >65 years or who died/were physically unable to come during follow-up had a worse mean Health Assessment Questionnaire-Disability Index. In individual courses from baseline to the last follow-up, the proportions of patients with a clinically meaningful worsening, stable or improved Health Assessment Questionnaire-Disability Index were 35%, 42% and 23%, respectively. Patients with immunosuppressants (odds ratio = 0.5, 95% confidence interval = 0.3 to 0.9) or gastrointestinal involvement (odds ratio = 0.6, 95% confidence interval = 0.4 to 0.9) at baseline showed a reduced chance of worsening of the Health Assessment Questionnaire-Disability Index over the total follow-up period.</p><p><strong>Conclusion: </strong>Over time, the average course of the Health Assessment Questionnaire-Disability Index was stable in systemic sclerosis patients. However, individual courses vary, with worsening occurring in one-third. Worsening occurred less often in individuals using immunosuppressants or with gastrointestinal involvement at baseline.</p>","PeriodicalId":17036,"journal":{"name":"Journal of Scleroderma and Related Disorders","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/a6/1b/10.1177_23971983231181719.PMC10515995.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41128910","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}
引用次数: 0
Critical digital ischaemia in systemic sclerosis exacerbated by multiple myeloma: A case report. 多发性骨髓瘤加重的系统性硬化症的严重指缺血:一例报告。
IF 1.4
Journal of Scleroderma and Related Disorders Pub Date : 2023-10-01 Epub Date: 2023-04-28 DOI: 10.1177/23971983231171248
Andre Silva Franco, Gabriel Berlingieri Polho, Ana Paula Luppino Assad, Renata Miossi, Percival Degrava Sampaio-Barros
{"title":"Critical digital ischaemia in systemic sclerosis exacerbated by multiple myeloma: A case report.","authors":"Andre Silva Franco, Gabriel Berlingieri Polho, Ana Paula Luppino Assad, Renata Miossi, Percival Degrava Sampaio-Barros","doi":"10.1177/23971983231171248","DOIUrl":"10.1177/23971983231171248","url":null,"abstract":"<p><strong>Introduction: </strong>The overlapping of systemic sclerosis with hematologic malignancy has been described previously in the literature. This case report presents a patient with systemic sclerosis and multiple myeloma who had severe digital ischaemia that culminated in the amputation of several fingers.</p><p><strong>Case report: </strong>A 65-year-old White female patient was diagnosed with limited systemic sclerosis in 2002, smouldering multiple myeloma IgG/kappa in 2017 and liver cirrhosis in 2018 due to autoimmune hepatitis. In 2021, she was admitted to the emergency room with dry ischaemia of all fingers and toes despite optimized therapy, associated with visual blurring. The diagnostic hypothesis was hyperviscosity syndrome associated with multiple myeloma reactivation. The patient underwent chemotherapy and despite initial laboratory improvement, 19 digits required amputation.</p><p><strong>Conclusion: </strong>Although the association between systemic sclerosis and multiple myeloma is rare, it should be remembered in cases of significant worsening of Raynaud's phenomenon. Causes unrelated to systemic sclerosis should also be considered in the presence of severe exacerbations in patients with other comorbidities.</p>","PeriodicalId":17036,"journal":{"name":"Journal of Scleroderma and Related Disorders","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10515990/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41129072","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}
引用次数: 0
A survey of Australian rheumatologists' perspectives of nutrition needs in systemic sclerosis. 澳大利亚风湿病学家对系统性硬化症营养需求的调查。
IF 2
Journal of Scleroderma and Related Disorders Pub Date : 2023-10-01 Epub Date: 2023-07-06 DOI: 10.1177/23971983231185465
De-Arne A Samm, Aimee R Macoustra, Rhiannon K Crane, Leah M McWilliams, Susanna M Proudman, Lee-Anne S Chapple
{"title":"A survey of Australian rheumatologists' perspectives of nutrition needs in systemic sclerosis.","authors":"De-Arne A Samm,&nbsp;Aimee R Macoustra,&nbsp;Rhiannon K Crane,&nbsp;Leah M McWilliams,&nbsp;Susanna M Proudman,&nbsp;Lee-Anne S Chapple","doi":"10.1177/23971983231185465","DOIUrl":"https://doi.org/10.1177/23971983231185465","url":null,"abstract":"<p><strong>Aim: </strong>Systemic sclerosis (scleroderma) is an incurable inflammatory condition synonymous with unique nutrition needs. As rheumatologists are frequently responsible for managing the various organ manifestations, this study aimed to understand the service needs and nutritional concerns of rheumatologists involved in the care of adults with systemic sclerosis.</p><p><strong>Methods: </strong>A 13-item online qualitative and quantitative survey was distributed via REDCap<sup>®</sup> from January to March 2022 to rheumatologists who are members of the Australian Scleroderma Interest Group and consult patients with systemic sclerosis. Data were collected on rheumatologists' demographics, and their views on symptoms observed, nutrition concerns and priorities, and preferred dietetic service provision for their patients. Data are reported as number (%).</p><p><strong>Results: </strong>Of 27 eligible rheumatologists, 17 (63%) completed the survey. All rheumatologists reported gastrointestinal symptoms in their patients (<i>n</i> = 17, 100%); predominantly reflux (<i>n</i> = 17, 100%) and dysphagia (<i>n</i> = 17, 100%). Weight loss was observed by the majority of rheumatologists (<i>n</i> = 15, 88%). Rheumatologists reported patients used food avoidance/special diets to manage symptoms (<i>n</i> = 12, 71%). Dietetic consultation was reported as potentially beneficial by all rheumatologists, with the preferred time being when symptoms increase or change (<i>n</i> = 15, 88%), and the preferred approaches being written resources (<i>n</i> = 15, 88%), face-to-face (<i>n</i> = 14, 82%) and telephone consultation (<i>n</i> = 14, 82%). Advice on gaining weight (<i>n</i> = 14, 82%) and systemic sclerosis symptom management (<i>n</i> = 13, 77%) were the most desired education topics reported.</p><p><strong>Conclusion: </strong>Rheumatologists commonly observe gastrointestinal symptoms in patients with systemic sclerosis and report dietetics services would be advantageous in supporting their patients to gain weight and better manage their symptoms.</p>","PeriodicalId":17036,"journal":{"name":"Journal of Scleroderma and Related Disorders","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10515988/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41099797","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}
引用次数: 0
Myositis mimics in scleroderma: A case series of neuromuscular diseases that can co-exist in scleroderma 硬皮病的模拟肌炎:一个病例系列的神经肌肉疾病,可以共存于硬皮病
Journal of Scleroderma and Related Disorders Pub Date : 2023-09-18 DOI: 10.1177/23971983231197442
Emma Joyce, Fredrick M Wigley, Laura K Hummers, Julie J Paik
{"title":"Myositis mimics in scleroderma: A case series of neuromuscular diseases that can co-exist in scleroderma","authors":"Emma Joyce, Fredrick M Wigley, Laura K Hummers, Julie J Paik","doi":"10.1177/23971983231197442","DOIUrl":"https://doi.org/10.1177/23971983231197442","url":null,"abstract":"We present a case series of four patients with systemic sclerosis and skeletal myopathy. While idiopathic inflammatory myopathies, or myositis, are thought to be the most common type of muscle disease seen in systemic sclerosis, we highlight four cases where unique clinical findings and careful assessment ruled out myositis mimics. Key diagnostic tools that can be helpful for clinicians to diagnose a neuromuscular disease are also detailed in this report.","PeriodicalId":17036,"journal":{"name":"Journal of Scleroderma and Related Disorders","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135154406","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
Altered pathways of keratinization, extracellular matrix generation, angiogenesis, and stromal stem cells proliferation in patients with systemic sclerosis. 系统性硬化症患者的角质化、细胞外基质生成、血管生成和基质干细胞增殖途径发生改变。
IF 2
Journal of Scleroderma and Related Disorders Pub Date : 2023-06-01 Epub Date: 2022-10-17 DOI: 10.1177/23971983221130145
Amelia Spinella, Domenico Lo Tartaro, Lara Gibellini, Marco de Pinto, Valentina Pinto, Elisa Bonetti, Francesca Lolli, Melba Lattanzi, Federica Lumetti, Gabriele Amati, Giorgio De Santis, Andrea Cossarizza, Carlo Salvarani, Dilia Giuggioli
{"title":"Altered pathways of keratinization, extracellular matrix generation, angiogenesis, and stromal stem cells proliferation in patients with systemic sclerosis.","authors":"Amelia Spinella, Domenico Lo Tartaro, Lara Gibellini, Marco de Pinto, Valentina Pinto, Elisa Bonetti, Francesca Lolli, Melba Lattanzi, Federica Lumetti, Gabriele Amati, Giorgio De Santis, Andrea Cossarizza, Carlo Salvarani, Dilia Giuggioli","doi":"10.1177/23971983221130145","DOIUrl":"10.1177/23971983221130145","url":null,"abstract":"<p><strong>Objective: </strong>Systemic sclerosis is characterized by endothelial dysfunction, autoimmunity abnormalities, and fibrosis of the skin and internal organs. The pathogenetic mechanisms underlying systemic sclerosis vasculopathy are still not clarified. A complex cellular and extracellular network of interactions has been studied, but it is currently unclear what drives the activation of fibroblasts/myofibroblasts and the extracellular matrix deposition.</p><p><strong>Methods: </strong>Using RNA sequencing, the aim of the work was to identify potential functional pathways implied in systemic sclerosis pathogenesis and markers of endothelial dysfunction and fibrosis in systemic sclerosis patients. RNA-sequencing analysis was performed on RNA obtained from biopsies from three systemic sclerosis patients and three healthy controls enrolled in our University Hospital. RNA was used to generate sequencing libraries that were sequenced according to proper transcriptomic analyses. Subsequently, we performed gene set enrichment analysis of differentially expressed genes on the entire list of genes that compose the RNA-sequencing expression matrix.</p><p><strong>Results: </strong>Gene set enrichment analysis revealed that healthy controls were characterized by gene signatures related to stromal stem cells proliferation, cytokine-cytokine receptor interaction, macrophage-enriched metabolic network, whereas systemic sclerosis tissues were enriched in signatures associated with keratinization, cornification, retinoblastoma 1 and tumor suppressor 53 signaling.</p><p><strong>Conclusion: </strong>According to our data, RNA-sequencing and pathway analysis revealed that systemic sclerosis subjects display a discrete pattern of gene expression associated with keratinization, extracellular matrix generation, and negative regulation of angiogenesis and stromal stem cells proliferation. Further analysis on larger numbers of patients is needed; however, our findings provide an interesting framework for the development of biomarkers useful to explore potential future therapeutic approaches.</p>","PeriodicalId":17036,"journal":{"name":"Journal of Scleroderma and Related Disorders","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10242696/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9599246","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}
引用次数: 0
Subcutaneous immunoglobulin therapy for refractory skin thickening in rapidly progressive systemic sclerosis: A case report and literature review. 皮下注射免疫球蛋白治疗快速进展性系统性硬化症难治性皮肤增厚:病例报告和文献综述。
IF 2
Journal of Scleroderma and Related Disorders Pub Date : 2023-06-01 Epub Date: 2022-09-28 DOI: 10.1177/23971983221124180
Fabio Cacciapaglia, Stefano Stano, Marco Fornaro, Florenzo Iannone
{"title":"Subcutaneous immunoglobulin therapy for refractory skin thickening in rapidly progressive systemic sclerosis: A case report and literature review.","authors":"Fabio Cacciapaglia, Stefano Stano, Marco Fornaro, Florenzo Iannone","doi":"10.1177/23971983221124180","DOIUrl":"10.1177/23971983221124180","url":null,"abstract":"<p><p>The use of immunoglobulin is a therapeutic option with increasing evidence of efficacy for different rheumatologic autoimmune systemic diseases. Some studies concerning immunoglobulin use in systemic sclerosis have been published with encouraging results. We present the case of a young woman diagnosed with rapidly progressive diffuse cutaneous systemic sclerosis, refractory to therapy with methotrexate and rituximab, which presented a relevant skin improvement after one year of subcutaneous immunoglobulin (2 g/kg cumulative monthly dose, refracted in weekly administrations). Furthermore, a narrative literature review of the evidence for alternative treatments with a focus on immunoglobulin use for systemic sclerosis skin involvement was carried out.</p>","PeriodicalId":17036,"journal":{"name":"Journal of Scleroderma and Related Disorders","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10242697/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9599244","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}
引用次数: 0
Cardiotoxicity in autologous haematopoietic stem cell transplantation for systemic sclerosis. 自体造血干细胞移植治疗系统性硬化症的心脏毒性。
IF 2
Journal of Scleroderma and Related Disorders Pub Date : 2023-06-01 Epub Date: 2023-02-07 DOI: 10.1177/23971983221145639
Ross Penglase, Laila Girgis, Helen Englert, Xavier Brennan, Andrew Jabbour, Eugene Kotlyar, David Ma, John Moore
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