Publications by authors named "Albert Selva-O'Callaghan"
Objective: Idiopathic inflammatory myopathies (myositis, IIMs) are rare, systemic autoimmune disorders that lead to muscle inflammation, weakness, and extra-muscular manifestations, with a strong genetic component influencing disease development and progression. Previous genome-wide association studies identified loci associated with IIMs. In this study, we imputed data from two prior genome-wide myositis studies and analyzed the largest myositis dataset to date to identify novel risk loci and susceptibility genes associated with IIMs and its clinical subtypes.
View Article and Find Full Text PDFExpanding the landscape of systemic sclerosis-related autoantibodies through RNA immunoprecipitation coupled with massive parallel sequencing.
Janire Perurena-Prieto María Teresa Sanz-Martínez Laura Viñas-Giménez Claudia Codina-Clavaguera Laura Triginer Albert Selva-O'Callaghan
J Autoimmun
December 2024
Article Synopsis
- The study focused on creating a new test to detect specific autoantibodies in patients with systemic sclerosis (SSc) using RNA immunoprecipitation and massive parallel sequencing techniques.
- Researchers analyzed serum samples from 307 SSc patients, with 57 undergoing detailed testing that identified 30,966 RNA molecules, ultimately narrowing down to 197 significant molecules linked to SSc-related autoantibodies.
- The new assay demonstrated high sensitivity and specificity in detecting autoantibodies, revealing not only known targets but also potential new ones associated with different clinical aspects of SSc.
Effectiveness of a psychoeducational intervention on myositis patients' quality of life and well-being: a randomized controlled trial.
Imma Armadans-Tremolosa Maria Palacin-Lois Angela Castrechini-Trotta Susana Sanduvete-Chaves Salvador Chacón-Moscoso Albert Selva-O'Callaghan
Orphanet J Rare Dis
November 2024
Article Synopsis
- Myositis is a rare disease that negatively affects patients' quality of life, and the study investigates an intervention aimed at improving this aspect.
- A total of 34 myositis patients were divided into an experimental group that received psychoeducational sessions and a control group, with quality of life measures taken before and after the intervention.
- Results showed significant improvements in the experimental group for quality of life, well-being, and self-efficacy, particularly in reducing sedentariness and enhancing social relationship satisfaction compared to the control group.
Article Synopsis
- - The study focused on anti-synthetase syndrome (ASSD), a rare autoimmune disease, aiming to identify clinical and lab features for potential classification criteria.
- - Researchers analyzed data from 948 ASSD patients and 1077 control subjects, finding that certain symptoms like arthritis and specific autoantibodies were more common in ASSD cases.
- - The findings will assist clinicians in diagnosing ASSD and contribute to creating more standardized, data-driven classification criteria for the syndrome.
Autoantibodies and damage in patients with idiopathic inflammatory myopathies: A longitudinal multicenter study from the MYONET international network.
Fabricio Espinosa-Ortega Karin Lodin Maryam Dastmalchi Jiri Vencovsky Louise P Diederichsen Albert Selva-O'Callaghan
Semin Arthritis Rheum
October 2024
Article Synopsis
- The study aimed to analyze how damage from idiopathic inflammatory myopathies (IIM) changes over time and its relationship with different autoantibody subgroups using data from a large patient registry.
- Researchers examined data from 757 patients classified by their autoantibody profiles and found that damage increased over the years, with varying rates depending on the type of autoantibody present.
- Results indicated that patients with dermatomyositis-specific autoantibodies exhibited less damage per year, while those with anti-PM/Scl autoantibodies experienced greater damage, highlighting significant differences among the groups over a five-year follow-up.
Article Synopsis
- Genome-wide association studies (GWASs) are effective in linking genetic variants to various human traits and diseases, but they often require large sample sizes, making it tough to study rarer diseases like myositis, which severely affect patients' quality of life.
- The researchers used a feature engineering method to leverage data from larger IMD GWASs, discovering 17 immune-mediated diseases genetically related to myositis, including conditions like systemic sclerosis and Sjögren's syndrome.
- They identified seven potential new genetic links to myositis, hinting that immune system genes may play a role in the disease, and suggest this method could enhance genetic research in other rare conditions as well.
Objectives: Autoantibodies targeting intracellular proteins are common in various autoimmune diseases. In the context of myositis, the pathologic significance of these autoantibodies has been questioned due to the assumption that autoantibodies cannot enter living muscle cells. This study aims to investigate the validity of this assumption.
View Article and Find Full Text PDFAuthor Correction: International Guideline for Idiopathic Inflammatory Myopathy-Associated Cancer Screening: an International Myositis Assessment and Clinical Studies Group (IMACS) initiative.
Alexander G S Oldroyd Jeffrey P Callen Hector Chinoy Lorinda Chung David Fiorentino Albert Selva-O'Callaghan
Nat Rev Rheumatol
May 2024
Article Synopsis
- * Twenty-five ASSD patients underwent CMR, revealing that 32% had pathological findings, including elevated T1, T2, and extracellular volume (ECV) values, indicating potential myocardial issues.
- * The results suggest that subclinical myocardial involvement is relatively common in ASSD patients, with myocardial edema being the most observed anomaly; however, the clinical significance of these findings remains unclear.
Agreement between local and central anti-synthetase antibodies detection: results from the Classification Criteria of Anti-Synthetase Syndrome project biobank.
Aravinthan Loganathan Giovanni Zanframundo Akira Yoshida Sara Faghihi-Kashani Iazsmin Bauer Ventura Albert Selva-O'Callaghan
Clin Exp Rheumatol
February 2024
Article Synopsis
- - The CLASS project aims to develop data-driven classification criteria for anti-synthetase syndrome (ASSD) by assessing the effectiveness of local immunoassays for detecting anti-aminoacyl tRNA synthetase antibodies (anti-ARS) in real-world settings.
- - Researchers collected 787 serum samples from various centers and compared local testing results with a central standard using immunoprecipitation and other methods to evaluate tests' sensitivity, specificity, and predictive values.
- - While local detection of anti-Jo1 antibodies showed high reliability, the agreement for anti-non-Jo1 antibodies varied, indicating some local tests may not align well with central definitions.
Objectives: To assess nailfold video capillaroscopic (NVC) abnormalities and their association with clinical features, myositis-specific autoantibodies (MSA), and myositis-associated antibodies (MAA) in a large multi-ethnic cohort of patients with idiopathic inflammatory myopathies (IIM).
Methods: We recruited 155 IIM patients from three centres in Mexico, Spain, and the USA. We evaluated the clinical and laboratory features of the patients and performed semiquantitative and quantitative analyses of the NVC.
Article Synopsis
- Myositis is an autoimmune muscle disease characterized by autoantibodies that target proteins within muscle cells, but their impact on disease development was previously unclear.* -
- This study utilized confocal microscopy and bulk RNA sequencing on muscle biopsies to investigate the presence and effects of these autoantibodies, revealing they accumulate in muscle fibers and disrupt the normal function of their target proteins.* -
- Findings showed that the internalization of these autoantibodies led to significant changes in gene expression and function, indicating that they play a crucial role in causing the pathology associated with myositis.*
International Guideline for Idiopathic Inflammatory Myopathy-Associated Cancer Screening: an International Myositis Assessment and Clinical Studies Group (IMACS) initiative.
Alexander G S Oldroyd Jeffrey P Callen Hector Chinoy Lorinda Chung David Fiorentino Albert Selva-O'Callaghan
Nat Rev Rheumatol
December 2023
Article Synopsis
- - Adult-onset idiopathic inflammatory myopathy (IIM) increases cancer risk around its onset, prompting the need for tailored cancer screening strategies.
- - An international expert group developed 18 recommendations using a modified Delphi method, focusing on risk stratification and cancer screening based on IIM subtype and clinical features.
- - The guidelines specify 'basic' and 'enhanced' cancer screening panels and suggest timing and frequency for screenings, including additional procedures for high-risk patients, aiming for earlier cancer detection and improved survival rates.
Article Synopsis
- The study aimed to identify new autoantibodies related to systemic sclerosis (SSc) using an innovative protein immunoprecipitation (IP) assay, which helps in diagnosing and predicting the prognosis of SSc patients.
- Researchers collected serum samples and clinical data from 307 SSc patients and tested them for various autoantibodies, including a non-radioactive protein IP assay for those negative for known autoantibodies.
- A novel autoantibody targeting nuclear valosin-containing protein-like (NVL) was discovered, which was associated with a higher prevalence of calcinosis and certain types of cancer among affected patients, identifying a distinctive clinical phenotype.
Dermatomyositis (DM), antisynthetase syndrome (AS), immune-mediated necrotizing myopathy (IMNM), and inclusion body myositis (IBM) are four major types of idiopathic inflammatory myopathy (IIM). Muscle biopsies from each type of IIM have unique transcriptomic profiles. MicroRNAs (miRNAs) target messenger RNAs (mRNAs), thereby regulating their expression and modulating transcriptomic profiles.
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- Some myopathies can cause dropped head or bent spine syndrome (DH/BS), but its significance in inflammatory myopathies (IM) hasn't been thoroughly explored.
- A study compared 49 patients with DH/BS related to IM to 98 control IM patients, finding that those with DH/BS were older and had more severe symptoms, including upper limb weakness, dysphagia, and muscle atrophy.
- The results suggest that DH/BS serves as a marker for the severity of IM and is often linked to complications related to systemic sclerosis, highlighting its clinical importance.
Article Synopsis
- The study aimed to identify the prevalence of late-onset Pompe disease (LOPD) among patients in Internal Medicine departments in Spain who showed possible signs of the disease but were undiagnosed.
- It was a multicenter, observational study that used dried blood spots (DBS) to screen for LOPD, confirming diagnosis through further enzyme activity tests and genetic testing if initial DBS results indicated low enzyme activity.
- The findings revealed a low prevalence of LOPD, confirming the disease in only 2 out of 322 patients (0.6%), suggesting there may be a hidden population that could benefit from earlier diagnosis and treatment.
Article Synopsis
- Patients with myositis experience worse health-related quality of life (HRQoL) and wellbeing compared to the general population, which negatively impacts their disease course.
- The text explores the importance of positive wellbeing in various areas—physical, environmental, psychological, and social—and its potential to lessen the severity of myositis and related organ damage.
- It emphasizes the need for targeted strategies to enhance HRQoL and wellbeing in adults with myositis to improve their overall disease outcome.
Article Synopsis
- Immune checkpoint inhibitors (ICI) improve cancer treatment but can trigger immune-related conditions, including dermatomyositis (DM).
- This study analyzed three DM cases linked to ICI from a patient cohort and reviewed existing literature on the topic.
- All cases were associated with specific ICI drugs and showed a strong presence of anti-TIF1γ autoantibodies, suggesting these antibodies may contribute to developing DM in some patients.
External clinical validation of automated software to identify structural abnormalities and microhaemorrhages in nailfold videocapillaroscopy images.
Borja C Gracia Tello Eduardo Ramos Ibañez Luis Saez Comet Alfredo Guillén Del Castillo Carmen Pilar Simeón Aznar Albert Selva-O'Callaghan
Clin Exp Rheumatol
August 2023
Article Synopsis
- The study focuses on creating an automated system using a deep learning algorithm to analyze nailfold videocapillaroscopy (NVC) images for diagnosing systemic sclerosis (SSc) and Raynaud's phenomenon (RP).
- A total of 1,164 NVC images from RP patients were analyzed, achieving a consensus among trained capillaroscopists on 86.9% of the images and demonstrating a high rate of accuracy by the algorithm, which correctly predicted the conditions in 75.8% of cases.
- The algorithm showed strong predictive values (over 80% for microhaemorrhages and abnormal capillaries), making it a potentially valuable tool for timely diagnosis and management of patients with SSc, RP
Objectives: Myositis is a heterogeneous family of diseases including dermatomyositis (DM), immune-mediated necrotising myopathy (IMNM), antisynthetase syndrome (AS) and inclusion body myositis (IBM). Myositis-specific autoantibodies define different subtypes of myositis. For example, patients with anti-Mi2 autoantibodies targeting the chromodomain helicase DNA-binding protein 4 (CHD4)/NuRD complex (a transcriptional repressor) have more severe muscle disease than other DM patients.
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- A study compared pain levels among people with idiopathic inflammatory myopathies (IIMs), other systemic autoimmune diseases (AIRDs), and those without rheumatic diseases (wAIDs) using data from a large online survey conducted during the COVID-19 pandemic.
- Participants reported their pain on a numerical rating scale; results showed that those with IIMs experienced more pain than wAIDs but less than those with other AIRDs.
- Factors such as female gender, age, and ethnicity influenced pain levels, highlighting that higher pain scores are linked to poor functional status in individuals with IIMs.
Article Synopsis
- Inflammatory myopathy includes various immune-mediated diseases like dermatomyositis and inclusion body myositis, with immune checkpoint inhibitors potentially causing a form known as ICI-myositis.
- The study analyzed gene expression in muscle biopsies from various myositis patients, using bulk and single nuclei RNA sequencing techniques.
- Results revealed three types of ICI-myositis based on gene expression profiles: ICI-DM, ICI-MYO1 (which shows high inflammation and myocarditis), and ICI-MYO2 (which has low inflammation). All subsets exhibited overexpression of genes in the IL6 pathway, with specific pathway activations noted in ICI-DM and ICI-MYO1.
Complement proteins are deposited in the muscles of patients with myositis. However, the local expression and regulation of complement genes within myositis muscle have not been well characterized. In this study, bulk RNA sequencing (RNAseq) analyses of muscle biopsy specimens revealed that complement genes are locally overexpressed and correlate with markers of myositis disease activity, including the expression of interferon-gamma (IFNγ)-induced genes.
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