Publications by authors named "Natalia Palmou Fontana"

Objective: Next-generation sequencing (NGS) panels are increasingly used for the diagnosis of monogenic systemic autoinflammatory diseases (SAIDs). However, their role in patients with adult-onset Still's disease (AOSD) remains unknown. This study aims to assess the usefulness of NGS panels in AOSD patients to improve diagnosis and management of the disease.

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Background: There is considerable practice variation in labelling, diagnosis and treatment of adults with sterile bone inflammation. We developed a expert consensus recommendations on the disease definition, diagnosis and treatment of this rare condition.

Methods: Systematic literature review and Grading of Recommendations, Assessment, Development and Evaluations-based appraisal of evidence, two Delphi surveys and three digital and in-person consensus meetings with a multidisciplinary expert panel and patient representatives.

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Article Synopsis
  • The study aimed to understand the clinical experiences of childhood-onset non-infectious uveitis by analyzing data from 507 patients across 21 hospitals in a national registry.
  • Most cases were classified as immune disease-associated uveitis and juvenile idiopathic arthritis-associated uveitis, predominantly affecting young females, while idiopathic uveitis and pars planitis occurred more in older children without a strong sex bias.
  • The findings highlighted a variety of ocular complications linked to different types of uveitis, with juvenile idiopathic arthritis cases showing better visual outcomes, whereas idiopathic uveitis and pars planitis were associated with more severe complications and the need for systemic treatments.
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Background/purpose: The manifestations of uveitis are well established in axial spondyloarthritis (ax-SpA), but not in psoriatic arthritis (PsA). We aimed to assess, in a large unselected series of PsA: (A) the frequency and clinical features of uveitis; (B) its association with PsA activity, the impact of disease and functional disability, and (C) its relationship with the biological treatment. In addition, a literature review was performed.

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Objective: The 2021 Group for Research and Assessment of Psoriasis and Psoriatic Arthritis (GRAPPA) treatment recommendations provide an evidence-based guide for selecting therapy based on the individual's disease features. Beyond the disease features and associated conditions (eg, uveitis and inflammatory bowel disease), comorbidities play an important role in selecting therapy for an individual patient.

Methods: We performed a systematic literature review.

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Article Synopsis
  • Anti-IL6R tocilizumab (TCZ) therapy shows promise for treating severe ocular and neurological symptoms in Behçet's disease (BD), but its effectiveness for other manifestations is uncertain.
  • A study involved 16 patients, primarily with ocular and neurological issues, who were previously unresponsive to standard treatments, and they experienced significant improvement in their symptoms after TCZ therapy.
  • While TCZ proved effective in addressing neurological and ocular domains, it was less successful for oral/genital ulcers and skin lesions, suggesting a selective efficacy depending on the specific manifestations of BD.
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Objectives: To compare the atherosclerosis disease burden between ankylosing spondylitis (AS) and non-radiographic (nr) axial spondyloarthritis (axSpA) and establish a model that allows to identify high-cardiovascular (CV) risk in axial spondyloarthritis patients.

Methods: Cross-sectional study from the AtheSpAin cohort, a Spanish multicenter cohort aimed to study atherosclerosis in axSpA. Carotid ultrasound (US) was performed to determine the carotid intima-media wall thickness (cIMT) and detect the presence of carotid plaques.

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Psoriatic arthritis (PsA) is associated with several comorbidities, including among others an increased risk of cardiovascular (CV) disease, atherosclerosis, metabolic syndrome, hypertension dyslipidemia, and diabetes. The purpose of the present study was to determine how the number of CV risk factors correlates with disease related data such as disease activity. Cross-sectional study that encompassed 305 patients who fulfilled the CASPAR criteria for PsA were assessed for lipid profile, disease activity measurements, and the presence of six traditional CV risk factors (diabetes mellitus, dyslipidemia, hypertension, obesity, chronic kidney disease, and smoking status).

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Background: Osteoporosis incidence in children is increasing due to the increased survival rate of patients suffering from chronic diseases and the increased use of drugs that can damage bones. Recent changes made to the definition of childhood osteoporosis, along with the lack of guidelines or national consensuses regarding its diagnosis and treatment, have resulted in a wide variability in the approaches used to treat this disease. For these reasons, the Osteogenesis Imperfecta and Childhood Osteoporosis Working Group of the Spanish Society of Pediatric Rheumatology has sounded the need for developing guidelines to standardize clinical practice with regard to this pathology.

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Objective: Because the addition of carotid ultrasound (US) into composite cardiovascular (CV) risk scores has been found effective for identifying patients with inflammatory arthritis and high CV risk, we aimed to determine whether its use would facilitate the reclassification of patients with psoriatic arthritis (PsA) into the very high Systematic Coronary Risk Evaluation (SCORE) risk category and whether this might be related to disease features.

Methods: This was a cross-sectional study involving 206 patients who fulfilled ClASsification for Psoriatic ARthritis criteria for PsA, and 179 controls. We assessed lipid profile, SCORE, disease activity measurements, and the presence of carotid plaques and carotid intima-media thickness by ultrasonography.

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Purpose: Cystoid macular edema (CME) is a leading cause of blindness. This study assessed the efficacy and safety of tocilizumab (TCZ) in refractory CME.

Design: Retrospective case series.

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Article Synopsis
  • Tocilizumab (TCZ) has been found to be effective for treating giant cell arteritis (GCA) in an observational study involving 134 patients, most of whom had previously received other treatments.
  • After one month on TCZ, a significant 93.9% of patients showed clinical improvement, including notable reductions in CRP and ESR levels, alongside a decrease in anemia.
  • Despite the positive outcomes, serious infections were observed more frequently than in prior clinical trials, particularly among patients taking higher doses of prednisone during the initial treatment phase.
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Objective: To describe nailfold videocapillaroscopy (NVC) features of patients with antisynthetase syndrome (AS) and to investigate possible correlations with clinical and serological features of the disease.

Methods: We retrospectively analyzed NVC images of 190 patients with AS [females/males 3.63, mean age 49.

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Objectives: 1) To systematically and critically review the evidence on the characteristics, efficacy and safety of glucocorticoids (CS) in rheumatoid arthritis (RA); 2) to generate practical recommendations.

Methods: A systematic literature review was performed through a sensitive bibliographic search strategy in Medline, Embase and the Cochrane Library. We selected randomized clinical trials that analyzed the efficacy and/or safety of CS in patients with RA.

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Objective: To assess the efficacy of tocilizumab (TCZ) in refractory uveitis of Behçet's disease (BD).

Methods: Multicentre study of patients with BD-associated uveitis. Patients were refractory to conventional and biologic immunosuppressive drugs.

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Objective: Interstitial lung disease (ILD) is one of the most serious complications of rheumatoid arthritis (RA). In the present study, we aimed to assess the efficacy of abatacept (ABA) in patients with ILD associated to RA.

Methods: National multicenter, non-controlled, open-label registry study of RA patients with ILD treated with ABA.

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Article Synopsis
  • The study evaluated the effectiveness of golimumab, an anti-TNF-α monoclonal antibody, for treating refractory uveitis associated with juvenile idiopathic arthritis (JIA).
  • It included 7 patients, most of whom had previously been treated with multiple other biologic agents, and showed significant improvements in ocular symptoms and visual acuity after 6 months of golimumab therapy.
  • The results suggest that golimumab could be a valuable option in managing difficult cases of JIA-related uveitis, although some patients experienced insufficient response and needed alternative treatments.
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Objectives: To assess the efficacy of other biologic therapies, different from infliximab (IFX) and adalimumab (ADA), in patients with Behçet's disease uveitis (BU).

Methods: Multicenter study of 124 patients with BU refractory to at least one standard immunosuppressive agent that required IFX or ADA therapy. Patients who had to be switched to another biologic agent due to inefficacy or intolerance to IFX or ADA or patient's decision were assessed.

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Article Synopsis
  • The study aimed to evaluate how effective tocilizumab (TCZ) is for treating uveitis in patients with juvenile idiopathic arthritis (JIA) that didn't improve with standard treatments.
  • It involved 25 patients, mostly female, who were assessed after receiving TCZ, showing significant improvement in key eye health indicators like anterior chamber cell numbers and central macular thickness after 6 months.
  • After a year of treatment, 76% of the patients had complete remission of uveitis, and there was a notable reduction in the need for corticosteroids, though some serious side effects were reported.
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To further investigate into the relapses of Henoch-Schönlein purpura (HSP), we analyzed the frequency, clinical features, and predictors of relapses in series of 417 unselected patients from a single center. After a median follow-up of 12 (interquartile range [IQR]: 2-38) years, almost one-third of the 417 patients (n = 133; 32%; 85 men/48 women) had experienced at least 1 relapse. At the time of disease diagnosis, patients who later experienced relapses had less commonly infections than those who never suffered flares (30.

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Article Synopsis
  • Anakinra (ANK), an interleukin-1 receptor antagonist, was evaluated for its effectiveness in treating adult-onset Still's disease (AOSD), particularly for patients resistant to standard therapies and other biologics.* -
  • A study involving 41 AOSD patients showed rapid improvements in clinical symptoms and laboratory results after starting ANK, with significant reductions in fever, joint pain, anemia, and lymphadenopathy over a year.* -
  • While ANK proved successful for many, some joint manifestations remained challenging to treat, and the main side effects included skin issues, mild leukopenia, and various infections.*
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Introduction: Very few cases of scar sarcoidosis affecting the eyes and bone together have been reported in the last few years.

Case Presentation: We report a case of a 49-year-old Spanish man with recurrent bilateral granulomatous uveitis and a fistulous nodular lesion in the left pre-tibial region (scar granuloma) on the site of an 8-year-old scar. He presented with bilateral hilar adenopathies and elevation of inflammatory markers and angiotensin-converting enzyme.

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Objectives: Osteoprotegerin (OPG) has been associated with increased risk and severity of atherosclerotic disease in the general population. Since ankylosing spondylitis (AS) is a chronic inflammatory disease associated with accelerated atherosclerosis, we aimed to assess whether OPG levels correlate with disease activity, systemic inflammation, metabolic syndrome, adipokines and biomarkers of endothelial cell activation in patients with AS undergoing TNF-α antagonist therapy.

Methods: We assessed OPG plasma concentration in 30 non-diabetic AS patients without cardiovascular disease undergoing TNF-α antagonist-infliximab therapy.

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