Review
Immunology
Jin Bu, Ruilian Ding, Liangjia Zhou, Xiangming Chen, Erxia Shen
Summary: Psoriasis is a chronic autoimmune inflammatory disease that affects not only the skin, but also other systems of the body and mental health. Recent studies have shown associations between psoriasis and various systemic diseases, including the skin system, reproductive system, and oral and ocular systems, as well as mental health diseases, due to a shared immune-inflammatory mechanism. This review summarizes epidemiological evidence from the past 5 years, supporting the association between psoriasis and important and/or newly reported systemic diseases, aiming to improve the management of people with psoriasis.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Rheumatology
Meredyth G. Ll Wilkinson, Dale Moulding, Thomas C. R. McDonnell, Michael Orford, Chris Wincup, Joanna Y. J. Ting, Georg W. Otto, Restuadi Restuadi, Daniel Kelberman, Charalampia Papadopoulou, Sergi Castellano, Simon Eaton, Claire T. Deakin, Elizabeth C. Rosser, Lucy R. Wedderburn
Summary: This study identifies a novel pathway in which altered mitochondrial biology in CD14+ monocytes of Juvenile dermatomyositis (JDM) patients leads to the production of oxidized mitochondrial DNA (oxmtDNA) and stimulates the expression of interferon (IFN) type 1 signature genes. Targeting this pathway has therapeutic potential in JDM and other IFN type 1-driven autoimmune diseases.
ANNALS OF THE RHEUMATIC DISEASES
(2023)
Article
Rheumatology
Lu Zhang, Qisheng Xia, Wenli Li, Qingyan Liu, Lining Zhang, Xiaolan Tian, Lifang Ye, Guochun Wang, Qinglin Peng
Summary: In this study, the potential role of beta 5i and RIG-I in muscle atrophy of dermatomyositis (DM) was investigated. The results showed that the expression of beta 5i and RIG-I was significantly increased in the muscles of DM patients and closely associated with disease severity. Further research revealed that beta 5i promotes muscle atrophy in DM through upregulation of RIG-I. These findings highlight beta 5i and RIG-I as potential therapeutic targets for the treatment of DM.
Article
Rheumatology
Yuji Hosono, Brandon Sie, Iago Pinal-Fernandez, Katherine Pak, Christopher A. Mecoli, Maria Casal-Dominguez, Blake M. Warner, Mariana J. Kaplan, Jemima Albayda, Sonye Danoff, Thomas E. Lloyd, Julie J. Paik, Eleni Tiniakou, Rohit Aggarwal, Chester Oddis, Siamak Moghadam-Kia, Carmelo Carmona-Rivera, Jose Cesar Milisenda, Josep Maria Grau-Junyent, Albert Selva-O'Callaghan, Lisa Christopher-Stine, H. Benjamin Larman, Andrew Lee Mammen
Summary: A novel autoantibody Sp4 was discovered in patients with dermatomyositis, and it appears to identify a subgroup of anti-TIF1 gamma-positive dermatomyositis patients with lower cancer risk.
ANNALS OF THE RHEUMATIC DISEASES
(2023)
Review
Rheumatology
Rachel Knevel, Katherine P. Liao
Summary: With the global digitalization of medical records, electronic health records (EHRs) have become an increasingly important source of real-world data (RWD). EHR data contain a broad collection of healthcare data covering the multitude of real-life patients and the healthcare processes related to their care. Machine learning (ML) is a powerful method that allows us to leverage a large amount of heterogeneous clinical data for clinical algorithms, but requires extensive training, testing, and validation.
ANNALS OF THE RHEUMATIC DISEASES
(2023)
Article
Rheumatology
Zachary S. Wallace, Gandarvaka Miles, Ekaterina Smolkina, Natalia Petruski-Ivleva, Duane Madziva, Claire Cook, Xiaoqing Fu, Yuqing Zhang, John H. Stone, Hyon K. Choi
Summary: This study describes the epidemiology of IgG4-related disease (IgG4-RD) in the USA, finding that the incidence and prevalence of IgG4-RD are increasing, and patients with IgG4-RD have a higher risk of death.
ANNALS OF THE RHEUMATIC DISEASES
(2023)
Article
Immunology
Jessica Neely, George Hartoularos, Daniel Bunis, Yang Sun, David Lee, Susan Kim, Chun Jimmie Ye, Marina Sirota
Summary: This study investigated the cell types and gene expression in juvenile dermatomyositis (JDM) using single-cell sequencing, and found separate clustering of cells and an over-expression of IFN gene signature in JDM. CD16(+) monocytes expressed the highest IFN gene score and showed an inflammatory and antigen-presenting phenotype. A distinct transitional B cell population was also found in JDM.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Rheumatology
Alba Boix-Amoros, Michelle H. Badri, Julia Manasson, Rebecca B. Blank, Rebecca H. Haberman, Andrea L. Neimann, Parvathy Girija, Anthony Jimenez Hernandez, Adriana Heguy, Sergei Koralov, Richard Bonneau, Jose C. Clemente, Jose U. Scher
Summary: This study investigated the differences in cutaneous microbiome between healthy individuals and patients with psoriasis and psoriatic arthritis. The results showed significant differences in diversity and bacterial composition between healthy skin and psoriatic skin, both lesional and non-lesional. Bacterial biomarkers were also identified that could potentially aid in predicting disease progression from psoriasis to psoriatic arthritis.
ANNALS OF THE RHEUMATIC DISEASES
(2023)
Article
Rheumatology
Matej Sapina, Marijan Frkovic, Mario Sestan, Sasa Srsen, Aleksandar Ovuka, Mateja Batnozic Varga, Karolina Kramaric, Dario Brdaric, Kresimir Milas, Alenka Gagro, Marija Jelusic
Summary: Research on the spatial variability of IgA vasculitis (IgAV) in children and its associated nephritis (IgAVN) in Croatia showed non-random distribution, with clustering patterns differing between IgAV and IgAVN. This spatial analysis provides insight for investigating potential environmental risk factors and genetic diversity in non-communicable diseases.
ANNALS OF THE RHEUMATIC DISEASES
(2021)
Article
Rheumatology
Paola Ghanem, Joseph C. Murray, Kristen A. Marrone, Susan C. Scott, Josephine L. Feliciano, Vincent K. Lam, Christine L. Hann, David S. Ettinger, Benjamin P. Levy, Patrick M. Forde, Ami A. Shah, Christopher Mecoli, Julie Brahmer, Laura C. Cappelli
Summary: Lung cancer patients with concomitant autoimmune rheumatic diseases (ARD) have different tumor characteristics and clinical outcomes compared to those without ARD. Patients with ARD are more likely to be diagnosed with early-stage lung cancer and have a longer overall survival (OS).
Article
Rheumatology
Henriette Schermacher Marstein, Birgit Nomeland Witczak, Kristin Godang, Nicoleta Christina Olarescu, Thomas Schwartz, Berit Flato, Oyvind Molberg, Jens Bollerslev, Ivar Sjaastad, Helga Sanner
Summary: In long-term juvenile dermatomyositis (JDM), patients showed altered adipose tissue distribution and subclinical cardiac dysfunction. Leptin levels were higher in JDM patients compared to controls, and apelin-12 and visfatin were higher in JDM-active patients compared to JDM-inactive patients.
Article
Cell Biology
Si Chen, Haolong Li, Haoting Zhan, Xiaoli Zeng, Hui Yuan, Yongzhe Li
Summary: Using gene expression data analysis, we identified new genetic biomarkers of the pathogenesis of PM/DM and demonstrated the crucial role of immune cell infiltration in the occurrence of PM/DM.
Article
Gastroenterology & Hepatology
Rasmine Birn-Rydder, Morten D. Jensen, Peter Jepsen, Lisbet Gronbaek
Summary: The presence of extrahepatic autoimmune diseases increases mortality in AIH patients, with patients having multiple extrahepatic autoimmune diseases having a higher mortality than those with just one.
LIVER INTERNATIONAL
(2022)
Article
Immunology
Hiroshi Shimizu, Haruki Matsumoto, Tomomi Sasajima, Tomohiro Suzuki, Yoshinori Okubo, Yuya Fujita, Jumpei Temmoku, Shuhei Yoshida, Tomoyuki Asano, Hiromasa Ohira, Yutaka Ejiri, Kiyoshi Migita
Summary: This article reports a case of complicated COVID-19 presenting with skin rash, muscle weakness, and interstitial lung disease (ILD), subsequently diagnosed with dermatomyositis (DM). The case suggests a possible association between COVID-19 and the development of autoimmune diseases.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Rheumatology
Marco Aurelio Almeida de Oliveira, Neila Hiraishi Mallmann, Giselle Katiane Bonfim Bacellar de Souza, Thiago de Jesus Bacha, Emerson Silva Lima, Domingos Savio Nunes de Lima, Luiz Fernando de Souza Passos, Marilda de Souza Goncalves, Jose Pereira de Moura Neto
Summary: The study found that SLE patients have a higher oxidative stress rate, with the double null deletion GSTT1(null)/GSTM1(null) genotype having a frequency almost five times higher than controls. The SOD2 47(CT/TT) allele may lead to more severe oxidative stress, and combinations of polymorphic genes may be involved in the pathogenesis of the disease.
CLINICAL RHEUMATOLOGY
(2021)
Letter
Rheumatology
Ingrid E. Lundberg, Frederick W. Miller, Lisa G. Rider, Victoria P. Werth, Anna Tjarnlund, Matteo Bottai
ANNALS OF THE RHEUMATIC DISEASES
(2023)
Article
Clinical Neurology
Summer R. Fair, Wesley Schwind, Dominic Julian, Alecia Biel, Gongbo Guo, Ryan Rutherford, Swetha Ramadesikan, Jesse Westfall, Katherine E. Miller, Meisam Naeimi Kararoudi, Scott E. Hickey, Theresa Mihalic Mosher, Kim L. McBride, Reid Neinast, James Fitch, Dean Lee, Peter White, Richard K. Wilson, Tracy A. Bedrosian, Daniel C. Koboldt, Mark E. Hester
Summary: Variants in the AUTS2 gene are associated with a broad spectrum of neurological conditions. In this study, a human cerebral organoid model was used to investigate the pathophysiology of a specific variant. The study found that the variant led to reduced growth and disrupted cell proliferation in the organoids. Gene editing was able to correct the variant and restore organoid growth and cell proliferative capacity. Single-cell RNA sequencing revealed changes in gene expression and signaling pathways. These findings highlight the importance of cerebral organoids in studying the molecular mechanisms underlying AUTS2 syndrome.
Article
Oncology
Flavia Watusi De Faria, Kathleen M. Schieffer, Christopher R. Pierson, Daniel R. Boue, Stephanie LaHaye, Katherine E. Miller, Nisreen Amayiri, Daniel C. Koboldt, Tara Lichtenberg, Kristen Leraas, Patrick Brennan, Ben Kelly, Peter White, Vincent Magrini, Richard K. Wilson, Elaine R. Mardis, Catherine E. Cottrell, Jerome Rusin, Jonathan L. Finlay, Diana S. Osorio
Summary: Ependymal tumors are the third most common brain tumor in children under 14 years old, and metastatic disease, although rare, has a negative prognosis especially in young children. Limited data is available on how to manage metastatic disease in patients under 3 years old. This study provides a literature review on clinical characteristics and radiation-sparing treatments for metastatic ependymoma in children under 3 years old. Chemotherapy-based approaches were used with radiation reserved for progression or relapse, and the overall survival rate varied among studies.
GENES CHROMOSOMES & CANCER
(2023)
Letter
Pediatrics
Joshua L. Bonkowsky, Tomi Pastinen, Peter White
PEDIATRIC RESEARCH
(2023)
Article
Rheumatology
Matthew A. Sherman, Rose Graf, Sara E. Sabbagh, Angeles S. Galindo-Feria, Iago Pinal-Fernandez, Katherine Pak, Takayuki Kishi, Willy A. Flegel, Ira N. Targoff, Frederick W. Miller, Ingrid E. Lundberg, Lisa G. Rider, Andrew L. Mammen
Summary: This study found the presence of anti-FHL1 autoantibodies in juvenile IIM patients, which were associated with MAAs and specific skin rash, but not with other clinical features or worse outcomes.
Letter
Critical Care Medicine
Cheilonda Johnson, Adam I. Schiffenbauer, Frederick W. Miller, Jamie Perin, Sonye K. Danoff, Avantika R. Diwadkar, Jaehyun Joo, Blanca E. Himes, Nuala J. Meyer
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
(2023)
Article
Rheumatology
Danlei Zhou, Emily H. King, Simon Rothwell, Olga Krystufkova, Antonella Notarnicola, Samantha Coss, Rabheh Abdul-Aziz, Katherine E. Miller, Amanda Dang, G. Richard Yu, Joanne Drew, Emeli Lundstrom, Lauren M. Pachman, Gulnara Mamyrova, Rodolfo Curiel, Boel De Paepe, Jan L. De Bleecker, Antony Payton, William Ollier, Terrance P. O'Hanlon, Ira N. Targoff, Willy A. Flegel, Vidya Sivaraman, Edward Oberle, Shoghik Akoghlanian, Kyla Driest, Charles H. Spencer, Yee Ling Wu, Haikady N. Nagaraja, Stacy P. Ardoin, Hector Chinoy, Lisa G. Rider, Frederick W. Miller, Ingrid E. Lundberg, Leonid Padyukov, Jiri Vencovsky, Janine A. Lamb, Chack-Yung Yu
Summary: C4A deficiency is relevant in dermatomyositis, HLA-DRB1*03 is important in IBM, and both C4A deficiency and HLA-DRB1*03 contribute interactively to the risk of polymyositis.
ANNALS OF THE RHEUMATIC DISEASES
(2023)
Article
Rheumatology
Melissa Morales, Tchilabalo D. Alayi, Shefa M. Tawalbeh, Agnes Sydenstricker, Rita Spathis, Hanna Kim, Kanneboyina Nagaraju, Yetrib Hathout, Lisa G. Rider
Summary: This study aimed to identify and validate biomarkers in children with juvenile dermatomyositis (JDM) using a multiplexing tandem mass tag urine proteome profiling approach. The results confirmed the presence of elevated cathepsin D and galectin-3 binding protein in the urine of JDM patients, supporting previous findings in myositis patients. The study also identified novel candidate biomarkers related to myositis.
Article
Rheumatology
Rodolfo Curiel, William Nguyen, Gulnara Mamyrova, Derek Jones, Alison A. Ehrlich, Kathleen Brindle, Shahriar Haji-Momenian, Robert Sheets, Hanna Y. Kim, Olcay G. Jones, Lisa Rider
Summary: This 24-week open-label study aimed to evaluate the safety and efficacy of abatacept in patients with refractory juvenile dermatomyositis (DM). Ten patients with moderate disease activity were enrolled to examine the safety of subcutaneous abatacept and patient responses. The results showed improvements in disease activity, decrease in glucocorticoid doses, and decrease in muscle edema.
ARTHRITIS & RHEUMATOLOGY
(2023)
Article
Rheumatology
Simon I. Rothwell, Christopher W. Amos, Frederick G. Miller, Lisa E. Rider, Ingrid K. Lundberg, Peter Gregersen, Jiri Vencovsky, Neil McHugh, Vidya Limaye, Albert G. Selva-O'Callaghan, Michael M. Hanna, Pedro M. Machado, Lauren M. Pachman, Ann Reed, Oyvind Molberg, Olivier Benveniste, Pernille Mathiesen, Timothy Radstake, Andrea L. Doria, Jan De Bleecker, Boel De Paepe, Britta E. Maurer, William Ollier, Leonid P. Padyukov, Terrance O'Hanlon, Annette R. Lee, Lucy Wedderburn, Hector A. Chinoy, Janine Lamb
Summary: In this study, genetic analysis of samples from patients with idiopathic inflammatory myopathies (IIMs) identified novel gene variants and localized signals to specific immune cell types. These findings provide new insights into the pathogenesis of IIMs.
ARTHRITIS & RHEUMATOLOGY
(2023)
Article
Rheumatology
Briana A. Cervantes, Prateek Gowda, Lisa G. Rider, Frederick W. Miller, Marcus Y. Chen, Adam Schiffenbauer
Summary: This study used whole-body CT scans and calcium scoring techniques to assess calcinosis in patients with adult and juvenile dermatomyositis. Different patterns and new locations of calcinosis were observed using CT scans and the Agatston scoring method, which can effectively evaluate and track calcinosis in these patients.
Article
Rheumatology
Rie Karasawa, Kazuo Yudoh, Toshiko Sato, Megumi Tanaka, Sara E. Sabbagh, Willy A. Flegel, Andrew L. Mammen, James N. Jarvis, Lisa G. Rider
Summary: By using Western blotting, the expression of TPM4 protein in normal human dermal microvascular ECs was investigated. Using ELISA, anti-TPM4 autoantibodies were detected in 30% of JDM plasma samples. These autoantibodies were associated with certain clinical features of JDM, such as cutaneous ulcers, shawl sign rash, mucous membrane lesions, and subcutaneous edema.
Article
Rheumatology
Didem Saygin, Hanna Kim, Christian Douglas, Brian Erman, Jesse Wilkerson, John A. McGrath, Chester Oddis, Ingrid E. Lundberg, Anthony A. Amato, Ignacio Garcia-De La Torre, Hector Chinoy, David Fiorentino, Lorinda Chung, Yeong-Wook Song, Frederick W. Miller, Nicolino Ruperto, Jiri Vencovsky, Rohit Aggarwal, Lisa G. Rider
Summary: This study further validated the ACR-EULAR Myositis Response Criteria (MRC) by assessing the contribution of each core set measure, the frequency of improvement in strength vs extramuscular activity, the representation of patient-reported outcome measures (PROM), and the frequency of core set measure worsening. The results showed that improvement in strength was the main contributing factor, and the majority of patients also had improvement in PROM.
Article
Rheumatology
Hanna Kim, Didem Saygin, Christian Douglas, Jesse Wilkerson, Brian Erman, Angela Pistorio, John A. McGrath, Ann M. Reed, Chester Oddis, Claudia Bracaglia, Annet van Royen-Kerkhof, Blanca Bica, Pavla Dolezalova, Virginia P. L. Ferriani, Berit Flato, Ana G. Bernard-Medina, Troels Herlin, Frederick W. Miller, Jiri Vencovsky, Nicolino Ruperto, Rohit Aggarwal, Lisa G. Rider
Summary: The 2016 ACR-EULAR response criteria for JDM is a composite measure with six core set measures to calculate a total improvement score. This study evaluated the contribution of each measure, representation of muscle-related and patient-reported measures, and frequency of measure worsening across improvement categories. The results support the consistent performance of the ACR-EULAR MRC across multiple studies and its further use as an efficacy endpoint in JDM trials.
Article
Rheumatology
Laura E. Schanberg, Lily (Yeruk) Mulugeta, Bolanle Akinlade, Hermine I. Brunner, Jianmeng Chen, Robert A. Colbert, Vincent Delgaizo, Marc R. Gastonguay, Rachel Glaser, Lisa Imundo, Daniel J. Lovell, Jocelyn H. Leu, Nael M. Mostafa, Robert M. Nelson, Peter A. Nigrovic, Nikolay P. Nikolov, Lisa G. Rider, Rebecca Rothwell, Chandrahas Sahajwalla, Renu Singh, Vikram Sinha, Carolyn L. Yancey, Lynne Yao
Summary: This report summarizes a workshop on drug development for polyarticular juvenile idiopathic arthritis (pJIA), highlighting the importance of accelerating drug development and the necessity of collaboration between stakeholders.
ARTHRITIS & RHEUMATOLOGY
(2023)