{"title":"Reflections of upper extremity performance in idiopathic pulmonary fibrosis on exercise capacity, clinical status, and quality of life.","authors":"Anıl Gökçen, Aysel Yıldız Özer, Elif Yıldırım, Begüm Ünlü, Nisanur Tutuş, İpek Özmen, Mine Gülden Polat","doi":"10.36141/svdld.2026.18847","DOIUrl":"10.36141/svdld.2026.18847","url":null,"abstract":"<p><strong>Background and aim: </strong>Clinical assessments in idiopathic pulmonary fibrosis (IPF) typically emphasize lower extremities; however, upper extremity performance may also influence clinical status, daily functioning, and quality of life. This study aimed to examine the relationship between upper extremity performance and exercise capacity, clinical status, and quality of life.</p><p><strong>Methods: </strong>IPF patients underwent 6-minute pegboard and ring test (6PBRT), Unsupported Upper Extremity Exercise Test (UULEX), 6-Minute Walk Test (6MWT), 1-Minute Sit-to-Stand Test (1MSTST), Modified Medical Research Council Dyspnea Scale (mMRC), Fatigue Severity Scale (FSS), London Chest Activities of Daily Living Scale (LCADL), and St. George Respiratory Questionnaire (SGRQ).</p><p><strong>Results: </strong>Moderate correlation was found between 6PBRT and 6MWT (r=0.516, p=0.017), 1MSTST (r=0.612, p=0.003), and UULEX (r=0.614, p=0.003). Negative correlations were observed between 6PBRT and mMRC (r=-0.482, p=0.027), GAP Index (r=-0.453, p=0.039), and LCADL-Leisure (r=-0.519, p=0.016). In multiple linear regression analysis, 6MWT distance and GAP Index explained 30% of the variance in 6PBRT (R²=0.303, p=0.039). Additionally, UULEX was negatively correlated with mMRC, FSS, LCADL, and SGRQ scores.</p><p><strong>Conclusions: </strong>The 6PBRT shows moderate associations with lower extremity performance and cardiopulmonary capacity, supporting its use in assessing upper extremity function in IPF patients. Clinically, 6PBRT and UULEX may complement lower extremity tests in comprehensive IPF assessment.</p>","PeriodicalId":502142,"journal":{"name":"Sarcoidosis, vasculitis, and diffuse lung diseases : official journal of WASOG","volume":"43 3","pages":"18847"},"PeriodicalIF":0.0,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659544/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149083654","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}
Güzide Tomas, Mustafa Düger, Şeyma Başlılar, Merve Güleryüz Can
{"title":"The prognostic value of the prognostic nutritional index in patients with sarcoidosis.","authors":"Güzide Tomas, Mustafa Düger, Şeyma Başlılar, Merve Güleryüz Can","doi":"10.36141/svdld.2026.18701","DOIUrl":"10.36141/svdld.2026.18701","url":null,"abstract":"<p><strong>Background: </strong>Sarcoidosis is a heterogeneous multisystem granulomatous disease with an unpredictable clinical course. Reliable biomarkers for predicting relapse remain limited. The Prognostic Nutritional Index (PNI), reflecting systemic inflammation and immunonutritional status, has emerged as a prognostic marker in various inflammatory and pulmonary diseases. However, its role in sarcoidosis has not been sufficiently clarified. This study aimed to investigate the association between baseline PNI levels and relapse in patients with sarcoidosis.</p><p><strong>Methods: </strong>This retrospective single-center study included 302 adult patients diagnosed with sarcoidosis between January 2015 and January 2025. Baseline laboratory parameters, including serum albumin, lymphocyte count, C-reactive protein (CRP), neutrophil-to-lymphocyte ratio (NLR), and platelet-to-lymphocyte ratio (PLR), were recorded. PNI was calculated as: 10 × serum albumin (g/dL) + 0.005 × total lymphocyte count (/mm³). The primary outcome was disease relapse during follow-up. Receiver operating characteristic (ROC) curve analysis was performed to evaluate the predictive performance of baseline PNI.</p><p><strong>Results: </strong>Relapse occurred in 52 patients (17.2%) during follow-up. Patients who developed relapse had significantly lower baseline albumin levels, lymphocyte counts, and PNI values, and significantly higher CRP, NLR, and PLR levels (all p<0.01). Baseline PNI demonstrated excellent discriminative ability for predicting relapse, with an area under the curve (AUC) of 0.922 (95% CI: 0.887-0.957, p<0.001). A cutoff value of ≤39.25 yielded a sensitivity of 94.2% and a specificity of 82.8%.</p><p><strong>Conclusion: </strong>Lower baseline PNI values are strongly associated with relapse in patients with sarcoidosis and show excellent predictive performance. As a simple, inexpensive, and widely available biomarker reflecting both inflammatory burden and immune competence, PNI may serve as a practical tool for risk stratification and individualized follow-up in clinical practice. Prospective multicenter studies are warranted to validate these findings.</p>","PeriodicalId":502142,"journal":{"name":"Sarcoidosis, vasculitis, and diffuse lung diseases : official journal of WASOG","volume":"43 3","pages":"18701"},"PeriodicalIF":0.0,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659552/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149083690","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}
Jeewon Lee, Ahran Kim, Kyuhwan Kim, Jung Hyun Nam, Jong Min Lee, Yong Suk Jo
{"title":"Trajectories of progressive pulmonary fibrosis and outcomes in connective tissue disease associated interstitial lung disease (CTD-ILD).","authors":"Jeewon Lee, Ahran Kim, Kyuhwan Kim, Jung Hyun Nam, Jong Min Lee, Yong Suk Jo","doi":"10.36141/svdld.2026.18859","DOIUrl":"10.36141/svdld.2026.18859","url":null,"abstract":"<p><strong>Background and aim: </strong>Progressive pulmonary fibrosis (PPF) can develop in various interstitial lung diseases (ILD), including connective tissue disease-associated ILD (CTD-ILD). This study aimed to examine the longitudinal trajectory and transition of PPF status in patients with CTD-ILD.</p><p><strong>Methods: </strong>In this single-center study at a tertiary referral hospital, we analyzed patients with CTD-ILD who underwent consecutive chest computed tomography (CT) scans and pulmonary function tests over two-year period. Patients were categorized into four groups based on annual PPF status.</p><p><strong>Results: </strong>Among the 144 patients, the majority (n = 75) maintained a non-PPF status throughout follow-up (Group 1), while 25 patients developed PPF at year 2 (Group 2), 12 showed PPF improvement (Group 3), and 31 had persistent PPF (Group 4). The persistent PPF group showed significantly higher mortality risk (p = 0.007). Based on PPF status at 2 years, annual changes in forced vital capacity (FVC) and diffusing capacity of carbon monoxide (DLCO) were more pronounced in PPF groups than in non-PPF groups (FVC: -3.72 ± 0.52 %/year vs. 2.82 ± 0.41 %/year; DLCO: -4.30 ± 0.75 %/year vs. 3.64 ± 0.60 %/year). Patients treated with immunomodulating agents showed a reduced risk of progression to PPF, although the association was not statistically significant (Group 2, adjusted odds ratio: 0.26, 95% CI: 0.02-4.43, p = 0.351).</p><p><strong>Conclusions: </strong>Regular pulmonary function monitoring and continuous assessment of PPF progression are essential for patients with CTD-ILD. Disease-directed treatment may reduce the risk of PPF development.</p>","PeriodicalId":502142,"journal":{"name":"Sarcoidosis, vasculitis, and diffuse lung diseases : official journal of WASOG","volume":"43 3","pages":"18859"},"PeriodicalIF":0.0,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659553/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149083401","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}
Min Kyung Kim, Seung-Lee Park, Eun Jeong Seo, So-Yoon Kim, Sung Woo Park, Jong-Uk Lee
{"title":"Fibroblast proliferative capacity predicts prognosis in idiopathic pulmonary fibrosis and identifies PITX1 as a growth-associated gene.","authors":"Min Kyung Kim, Seung-Lee Park, Eun Jeong Seo, So-Yoon Kim, Sung Woo Park, Jong-Uk Lee","doi":"10.36141/svdld.2026.19046","DOIUrl":"10.36141/svdld.2026.19046","url":null,"abstract":"<p><strong>Background: </strong>Idiopathic pulmonary fibrosis (IPF) is a progressive fibrotic lung disease with poor prognosis. Lung fibroblasts isolated from patients with IPF exhibit enhanced proliferative capacity; however, the molecular determinants linking fibroblast proliferation to clinical outcomes remain incompletely understood.</p><p><strong>Methods: </strong>Fibroblast growth slopes were measured in primary lung fibroblast derived from patients with IPF and control subjects. Transcriptome microarray data were integrated with fibroblast growth kinetics to identify growth slope-associated genes. Differential expression analysis was performed between IPF and control fibroblasts, and candidate genes were further evaluated at the mRNA and protein levels in lung fibroblasts and bronchoalveolar lavage (BAL) fluids. Associations with clinical outcomes were assessed.</p><p><strong>Results: </strong>Fibroblasts derived from patients with IPF showed significantly higher growth slope than control fibroblasts, and increased fibroblast growth slope were associated with reduced survival in IPF. Integration of fibroblast growth kinetics with transcriptomic analysis identified a fibroblast growth slope-associated gene signature, from which PITX1 emerged as a disease-relevant candidate gene. PITX1 mRNA and protein levels were elevated in IPF fibroblasts compared with controls. In BAL fluids, PITX1 protein levels were significantly higher in patients with IPF and were associated with clinical outcomes, although they did not correlate with pulmonary function parameters.</p><p><strong>Conclusions: </strong>Enhanced fibroblast proliferative capacity is associated with poor prognosis in IPF, and PITX1 represents a fibroblast growth slope-associated gene reflecting fibroblast heterogeneity and prognostic relevance. These findings suggest that assessment of fibroblast growth behavior and PITX1 expression may provide insight into disease progression in IPF, although further validation studies are required.</p>","PeriodicalId":502142,"journal":{"name":"Sarcoidosis, vasculitis, and diffuse lung diseases : official journal of WASOG","volume":"43 3","pages":"19046"},"PeriodicalIF":0.0,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659555/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149083638","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":"Bilateral corneal keratolysis (corneal melt) in sarcoidosis.","authors":"Ogugua Ndili Obi, Yen H Nguyen, Ann Ostrovsky","doi":"10.36141/svdld.2026.19322","DOIUrl":"10.36141/svdld.2026.19322","url":null,"abstract":"<p><strong>Background and aim: </strong>Corneal involvement in sarcoidosis is rare, and central corneal keratolysis has not been previously described. We present the first reported case of bilateral central corneal keratolysis in a patient with multi-organ sarcoidosis.</p><p><strong>Methods: </strong>Case report Results: A 37-year-old woman with pulmonary, cutaneous, and ocular sarcoidosis presented with severe bilateral ocular pain, photophobia, and rapidly progressive vision loss. Examination revealed severe uveitis with bilateral hypopyons and central corneal keratolysis. Results from infectious, rheumatological, and vasculitis work-up were negative. She was treated with high-dose intravenous corticosteroids, methotrexate, and infliximab but developed significant stromal scarring with persistent visual impairment. Conclusions: This case highlights the need to consider sarcoidosis in the differential diagnosis of rapidly progressive keratolysis, particularly in patients with known systemic disease or anterior sarcoid uveitis.</p>","PeriodicalId":502142,"journal":{"name":"Sarcoidosis, vasculitis, and diffuse lung diseases : official journal of WASOG","volume":"43 3","pages":"19322"},"PeriodicalIF":0.0,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659550/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149083609","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}
Makbule Nihan Somuncu, Adil Zamani, Ayse Gul Zamani, Ayşe İnci, Mahmut Selman Yıldırım
{"title":"Peripheral immune checkpoint gene expression as diagnostic biomarkers in idiopathic pulmonary fibrosis.","authors":"Makbule Nihan Somuncu, Adil Zamani, Ayse Gul Zamani, Ayşe İnci, Mahmut Selman Yıldırım","doi":"10.36141/svdld.2026.18872","DOIUrl":"10.36141/svdld.2026.18872","url":null,"abstract":"<p><strong>Background and aim: </strong>Idiopathic pulmonary fibrosis (IPF) is a relatively rare and progressive fibrotic interstitial lung disease with limited annual incidence and poor prognosis. Increasing evidence suggests that immune dysregulation, including altered immune checkpoint and innate regulatory signaling pathways, may contribute to disease pathogenesis. This study aimed to investigate peripheral blood expression levels of PD-1, PD-L1, TIM-3, and TOLLIP genes and to evaluate their diagnostic potential in patients with IPF.</p><p><strong>Methods: </strong>This case-control study included 20 IPF patients and 20 age-matched healthy controls. Gene expression levels were quantified using real-time quantitative polymerase chain reaction (RT-qPCR) and calculated using the ΔCt method. Diagnostic discrimination was assessed by receiver operating characteristic (ROC) analysis.</p><p><strong>Results: </strong>PD-L1 (p < 0.001) and TOLLIP (p = 0.002) ΔCt values were significantly higher, indicating reduced relative gene expression. ROC analysis demonstrated strong diagnostic performance for PD-L1 (AUC = 0.883) and TOLLIP (AUC = 0.865). The combined PD-L1 + TOLLIP biomarker panel demonstrated superior diagnostic accuracy (AUC = 0.948). Internal validation using bootstrap resampling confirmed model stability (mean AUC = 0.950; 95% CI: 0.85-1.00).</p><p><strong>Conclusions: </strong>In conclusion, peripheral blood PD-L1 and TOLLIP expression levels are significantly downregulated in patients with idiopathic pulmonary fibrosis. The combined PD-L1 + TOLLIP biomarker panel demonstrated strong diagnostic discrimination (AUC = 0.948), supporting the potential clinical utility of peripheral immune regulatory gene signatures as minimally invasive biomarkers in IPF. Larger prospective studies are warranted to validate these findings and to explore their potential role in clinical decision-making.</p>","PeriodicalId":502142,"journal":{"name":"Sarcoidosis, vasculitis, and diffuse lung diseases : official journal of WASOG","volume":"43 3","pages":"18872"},"PeriodicalIF":0.0,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659554/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149083614","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":"Sarcoidosis in hospitalised patients in Western Australia: A long-term study on prevalence, comorbidity and mortality.","authors":"Johannes Nossent, Charles Inderjeeth","doi":"10.36141/svdld.2026.18592","DOIUrl":"10.36141/svdld.2026.18592","url":null,"abstract":"<p><strong>Objective: </strong>To determine disease prevalence, comorbidity and mortality for hospitalised patients with sarcoidosis in Western Australia (WA).</p><p><strong>Methods: </strong>A retrospective statewide cohort study of patients over 15 years of age hospitalised with sarcoidosis between 1980 and 2014. Sarcoidosis was identified based on validated ICD -9CM/ICD10-AM based algorithms with index admission treated as baseline. Period and point prevalence per 100.000 adult population and mortality rate (MR) per 100 person years were estimated with 95% confidence intervals (CI). Kaplan Meyer survival curves and other outcomes were compared with a comparator group of Rheumatoid Arthritis patients with interstitial lung disease (RA-ILD). Median values are given with interquartile range (IQR).</p><p><strong>Results: </strong>We included 276 patients with sarcoidosis (index age 58 yrs IQR 46-69, 51.4 % females, invasive assessment in 68%) for a period prevalence of 21.1 (CI 18.7-23.7) and a 2015-point prevalence of 12.1 (CI 10.6-13.8). No specific risk factors were identified and extrapulmonary manifestations were recorded in 15%. During follow-up (3428-person years; median 11 years, IQR 5-19), patients with sarcoidosis were more likely to develop hypercalcemia (10.9 vs 4. 1%, p<0.01), new onset autoimmune rheumatic disease (9.3 vs 2.3%, p<0.01) and incident cancer (21.5 vs15%, p=0.07) and less likely to develop heart failure (18.5 vs 40%, p<0.01) than RA-ILD patients. In contrast to RA-ILD patients, age adjusted standardised MR was not increased for patients with sarcoidosis and respiratory causes of death significantly less frequent (p<0.01) Conclusion: The hospital-based prevalence of sarcoidosis in WA is higher than previously reported from Australia. Due to lower burden of comorbidity, the overall and respiratory prognosis for sarcoidosis is much better than for RA associated lung disease.</p>","PeriodicalId":502142,"journal":{"name":"Sarcoidosis, vasculitis, and diffuse lung diseases : official journal of WASOG","volume":"43 3","pages":"18592"},"PeriodicalIF":0.0,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659548/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149083712","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":"Folate metabolism-related gene signature reveals prognostic and immunological characteristics in idiopathic pulmonary fibrosis.","authors":"Xuan Chen, Junzhi Zhang, Yuankai Lv, Yiping Chen","doi":"10.36141/svdld.2026.18589","DOIUrl":"10.36141/svdld.2026.18589","url":null,"abstract":"<p><strong>Background: </strong>Idiopathic pulmonary fibrosis (IPF) is a progressive interstitial lung disease characterized by irreversible lung remodeling and poor prognosis. Metabolic dysregulation, has emerged as a critical contributor to fibroblast activation and immune dysfunction. Methods: Transcriptome datasets from the Gene Expression Omnibus were used, with GSE70866-GPL14550 as the training cohort and GSE70866-GPL17077 as an independent validation cohort. Differential expression analysis and weighted gene co-expression network analysis were performed to identify IPF-associated modules. Intersection of differentially expressed genes, hub genes from key modules, and curated FMRGs yielded candidate metabolic signatures. Cox regression and least absolute shrinkage and selection operator analysis were applied to construct a multi-gene prognostic model. Functional enrichment, Gene Set Enrichment Analysis, single-sample Gene Set Enrichment Analysis, and Cell-type deconvolution was performed using CIBERSORT were used to characterize biological pathways and immune infiltration patterns. A nomogram integrating clinical features was built and validated. Upstream transcription factor and competing endogenous RNA regulatory networks, potential drug-gene interactions, and molecular subtypes were also identified.</p><p><strong>Results: </strong>Ten IPF-related FMRGs were identified through integrated analyses. A four-gene prognostic signature was constructed in the training cohort and externally validated in the independent cohort, effectively stratifying patients into high- and low-risk groups with distinct survival outcomes. High-risk patients exhibited enrichment of epithelial-mesenchymal transition, extracellular matrix remodeling, and cytokine-mediated pathways, accompanied by heightened infiltration of pro-inflammatory and pro-fibrotic immune cells and elevated immune checkpoint expression. The nomogram demonstrated high predictive accuracy and clinical utility. Two metabolic subtypes (Cluster 1/2) were identified, showing significant differences in survival, immune infiltration, checkpoint expression, and pathway activation.</p><p><strong>Conclusion: </strong>This study establishes a folate metabolism-based prognostic signature and reveals distinct metabolic-immune phenotypes and molecular subtypes in IPF, offering novel biomarkers and therapeutic insights. Clinically, the risk score/nomogram may support risk-adapted monitoring and prioritization of high-risk patients for treatment optimization.</p>","PeriodicalId":502142,"journal":{"name":"Sarcoidosis, vasculitis, and diffuse lung diseases : official journal of WASOG","volume":"43 3","pages":"18589"},"PeriodicalIF":0.0,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659547/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149083617","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}
Gargi Mishra, Ali Razavi, Jonathan L Hess, Kathleen Ecal, Craig P Hersh, Stephen J Glatt, Birendra Sah, Auyon J Ghosh
{"title":"Derivation of a peripheral blood-based transcriptomic risk score for extrapulmonary sarcoidosis.","authors":"Gargi Mishra, Ali Razavi, Jonathan L Hess, Kathleen Ecal, Craig P Hersh, Stephen J Glatt, Birendra Sah, Auyon J Ghosh","doi":"10.36141/svdld.2026.18384","DOIUrl":"10.36141/svdld.2026.18384","url":null,"abstract":"<p><strong>Background: </strong>Extrapulmonary sarcoidosis can be identified in many tissues but as an unpredictable display in an already rare disease, has not been methodically examined. We sought to identify gene-expression differences in blood and derive a transcriptomic risk score (TRS) to predict extrapulmonary manifestations of sarcoidosis.</p><p><strong>Methods: </strong>We used RNA sequencing data from the Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis (GRADS) study and a cohort from our institution. We performed differential expression mega-analysis as well as pathway enrichment and cell-type deconvolution comparing individuals with pulmonary-only sarcoidosis to those with extrapulmonary sarcoidosis. In addition, we deployed supervised learning models to develop the TRS to distinguish extrapulmonary sarcoidosis from pulmonary-only disease.</p><p><strong>Results: </strong>We identified 594 genes that met the nominal significance threshold for differential expression. In the local cohort, we found that individuals with extrapulmonary sarcoidosis had a significantly lower proportion of estimated naïve and memory B cells. The TRS had moderate predictive ability for extrapulmonary sarcoidosis in the held-out testing sample (AUC 0.72) but only modest predictive ability (AUC 0.58) in the independent dataset.</p><p><strong>Conclusion: </strong> Our study demonstrates that a TRS derived from blood-based transcriptomics is able to distinguish between individuals with pulmonary-only and extrapulmonary sarcoidosis. The TRS is also comprised of biologically relevant genes, including several T cell receptor alpha subunit genes. Future studies are needed to prospectively validate our findings and potentially expand their use to identify precision treatments for individuals with extrapulmonary sarcoidosis.</p>","PeriodicalId":502142,"journal":{"name":"Sarcoidosis, vasculitis, and diffuse lung diseases : official journal of WASOG","volume":"43 3","pages":"18384"},"PeriodicalIF":0.0,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659557/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149083662","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}
Giorgio Monteleone, Andrea Salotti, Riccardo Ture, Giulia Bandini, Michael Hughes, Paola Confalonieri, Francesco Salton, Marco Confalonieri, Salvatore Nicolosi, Barbara Ruaro
{"title":"The onset of sarcoidosis in relation to tattoos: Focus on the treatment landscape. A critical literature review and case report.","authors":"Giorgio Monteleone, Andrea Salotti, Riccardo Ture, Giulia Bandini, Michael Hughes, Paola Confalonieri, Francesco Salton, Marco Confalonieri, Salvatore Nicolosi, Barbara Ruaro","doi":"10.36141/svdld.2026.18997","DOIUrl":"10.36141/svdld.2026.18997","url":null,"abstract":"<p><p>Sarcoidosis is a complex multisystem granulomatous disease characterized by the formation of non-caseating granulomas in affected tissues, primarily involving the lungs and the lymphatic system. While its precise etiology remains elusive, a combination of genetic predisposition, environmental factors, and immune dysregulation is believed to contribute to disease development. In recent years, an intriguing association has emerged between cutaneous sarcoidosis and tattooing. Several case reports and observational studies have documented instances where sarcoid granulomas develop within tattooed skin, often with concurrent systemic involvement. This review explores the existing literature on the relationship between tattoos and sarcoidosis, examining proposed pathogenic mechanisms, clinical presentations, and implications for diagnosis and management. The evidence suggests that tattoo pigments-particularly those containing metals and organic compounds-may act as foreign bodies, eliciting a localized granulomatous immune response that can potentially trigger or reflect systemic disease. Although causality remains unproven, understanding this association is vital for clinicians managing patients with granulomatous skin lesions and for public health considerations related to tattoo safety. Further research is necessary to clarify the pathophysiological links and to identify individuals at risk, ultimately guiding preventive strategies and tailored therapeutic approaches.</p>","PeriodicalId":502142,"journal":{"name":"Sarcoidosis, vasculitis, and diffuse lung diseases : official journal of WASOG","volume":"43 3","pages":"18997"},"PeriodicalIF":0.0,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659549/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149083684","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}