Publications by authors named "Campochiaro C"

Background: VEXAS syndrome, a recently identified systemic autoinflammatory disorder, poses new diagnostic and management challenges. Based on experience with other autoinflammatory diseases, anti-interleukin (IL)-1, anti-IL-6, anti-tumor necrosis factor (TNF) biotechnological agents, and Janus kinase inhibitors (JAKis) have been widely employed in VEXAS patients. The aim of this study is to evaluate the global effectiveness and safety of biotechnological agents and JAKis using data from the real-world context.

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Cardiac sarcoidosis (CS) is a multifaceted inflammatory disease that affects the heart, leading to complications such as arrhythmias, heart failure, and sudden cardiac death. Endomyocardial biopsy is the diagnostic gold standard, but its low sensitivity and risks limit its utility. Imaging modalities, such as cardiac magnetic resonance and positron emission tomography, are critical for diagnosing and managing CS.

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Objectives: The study objective was to determine if a common single nucleotide polymorphism in the interleukin 6 (IL-6) receptor (rs2228145, p.Asp358Ala) predicted treatment response to tocilizumab in giant cell arteritis (GCA).

Methods: Genetic sequencing of the rs2228145 locus was performed in 2 independent cohorts of patients with GCA.

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Background: Primary heart involvement (pHI) is frequent in systemic sclerosis (SSc), and is associated with a poor prognosis. Therapeutic strategies to treat SSc-pHI are not yet defined.

Objectives: To evaluate the efficacy of immunosuppressive therapy on cardiac magnetic resonance (CMR) features in patients with CMR-proven SSc-pHI.

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Objective: Bosentan (BOS) is approved for treating pulmonary arterial hypertension (PAH) and preventing digital ulcers (DU) in systemic sclerosis (SSc). Our study aimed to evaluate whether BOS prescribed for DU could reduce the incidence of PAH in a large SSc cohort from the Systemic Sclerosis Progression Investigation (SPRING) registry.

Methods: Patients with SSc from the SPRING registry, meeting 2013 American College of Rheumatology/European Alliance of Associations for Rheumatology classification criteria with data on PAH onset, DU status, BOS exposure, and at least 1 year of follow-up between 2015 and 2020, and having no known PAH at baseline, were included.

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Objective: Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis that exhibits a wide spectrum of clinical manifestations. The recent identification of activating mutations in the MAPK-ERK pathway in patients with ECD has led to the introduction of targeted therapies. The most commonly used targeted therapies are BRAF- and MEK-inhibitors, which are highly effective but also carry significant toxicity.

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Objective: We aimed to (1) evaluate the cardiac involvement, with a focus on myocarditis, in patients with Still disease included in the multicenter Autoinflammatory Disease Alliance (AIDA) Network Still disease registry; and (2) assess the predictive factors for myocarditis by deriving a clinical risk patient profile for this severe manifestation.

Methods: A multicenter observational study was established, in which consecutive patients with Still disease in the AIDA Network Still disease registry were characterized by cardiac involvement. Cardiac involvement was defined according to the presence of pericarditis, tamponade, myocarditis, and/or aseptic endocarditis.

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Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) is a haemato-inflammatory syndrome genetically defined by somatic mutations in the X-linked UBA1 gene, typically Val/Thr/Leu substitutions at the Met41 hotspot. Clinical manifestations are heterogeneous and refractory to most haemato-rheumatological treatments. To date, no guidelines exist for the management of VEXAS, and scarce is the evidence on methodology and clinical significance of longitudinal UBA1 clonal burden evaluation upon therapy.

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Systemic sclerosis (SSc) is considered a rare autoimmune disease in which there are alterations of both the innate and adaptive immune response resulting in the production of autoantibodies. Abnormalities of the immune system compromise the normal function of blood vessels leading to a vasculopathy manifested by Raynaud's phenomenon, an early sign of SSc . As a consequence of this reactive picture, the disease can evolve leading to tissue fibrosis.

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Article Synopsis
  • Dystrophic calcinosis is a condition where calcified materials accumulate in tissues despite normal calcium and phosphorus levels, commonly seen in systemic sclerosis (SSc) and significantly impacting patient quality of life.
  • The management of calcinosis in SSc is challenging due to risks like infection, pain, and the absence of standardized treatment options, with its precise causes still unclear.
  • Factors contributing to calcinosis development include cell differentiation, mineralization imbalances, and local disturbances in mineral levels, alongside pathophysiological changes in SSc that may promote its formation, highlighting the need for further research into underlying mechanisms for potential treatment strategies.
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  • - Early diagnosis of interstitial lung disease (ILD) and pulmonary hypertension (PH) in systemic sclerosis (SSc) is vital for effective management, but symptoms can be vague in the early stages, making diagnosis difficult.
  • - High-resolution computed tomography (HRCT) is the best imaging technique for evaluating SSc-ILD, showing key features like non-specific interstitial pneumonia (NSIP), ground-glass opacities, and traction bronchiectasis.
  • - Monitoring disease progression and treatment response through serial HRCT assessments is essential, as the extent of disease visible on scans correlates with patient prognosis.
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  • - Gastrointestinal complications are common in systemic sclerosis (SSc) and may be linked to autoimmune factors and blood vessel damage, but the exact causes are unclear.
  • - The study examined the small blood vessels in the abdomen of SSc patients using Doppler Ultrasound to explore their relationship with GI symptoms and disease progression.
  • - Results showed differences in blood flow measurements between types of SSc and found significant correlations between blood vessel function and GI symptoms like fecal incontinence.
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Background: Mycophenolate mofetil (MMF) is a mainstay for the treatment of systemic sclerosis (SSc). The occurrence and implications of MMF-related adverse events on drug retention rates in real life remain poorly defined. We aimed to determine the MMF retention rate and to investigate the causes and patterns of discontinuation, adverse events (AEs) and treatment options used after discontinuation.

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Objectives: The current knowledge about the role of comorbidities in systemic sclerosis (SSc) is limited. Therefore, the aim of this study was to evaluate the prevalence of comorbidities and their impact on disease activity and prognosis in the Systemic sclerosis PRogression INvestiGation (SPRING) registry.

Methods: SSc patients from the SPRING registry, fulfilling the ACR/EULAR 2013 classification criteria, with complete data on baseline comorbidities were enrolled.

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Idiopathic pulmonary fibrosis (IPF) is a rare and progressive interstitial lung disease characterized by irreversible distortion of lung architecture and subsequent loss of pulmonary function. Pirfenidone is an antifibrotic agent associated with increased progression-free survival and overall survival rates, but it carries multiple side effects. The aim of the study was to examine the efficacy and safety profile of pirfenidone in a real-life context, with a focus on the concomitant use of antithrombotic and/or anticoagulant treatments.

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Objectives: Cardiovascular involvement in systemic lupus erythematosus (SLE) is frequent but little is known about possible distinctive traits of SLE-related myocarditis (myoSLE) in comparison to patients with SLE (onlySLE) or myocarditis alone (onlyMyo).

Methods: A retrospective analysis was performed comparing patients with myoSLE (n = 25) from three centres with consecutive patients with onlySLE (n = 279) and onlyMyo (n = 88). SLE patients were dichotomised by disease duration ≤1 vs >1 year into recent onlySLE/early myoSLE vs longstanding onlySLE/late myoSLE.

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Article Synopsis
  • - The study explored the link between exposure to particulate matter (PM) and the risk of developing giant cell arteritis (GCA) in patients from three hospitals in northern Italy.
  • - It included 232 patients, revealing a 27.1% increased risk of GCA for every 10-μg/m increase in PM concentration over a 60-day period, particularly affecting older individuals (≥70 years).
  • - The findings suggest that prolonged exposure to high levels of PM correlates with a higher likelihood of GCA onset, pointing to a need for awareness of air pollution's health impacts.
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Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a recently characterized disease associated with somatic mutations in the UBA1 gene, which cause dysregulation of ubiquitin-mediated processes. This case describes a 71-year-old male patient with VEXAS syndrome who presented with refractory lung inflammation with a pattern similar to computed tomography hypersensitivity pneumonitis, a novel finding in VEXAS syndrome. The presented clinical case highlights the protean involvement of the lung in VEXAS syndrome and emphasizes the importance of considering interstitial lung disease in the differential diagnosis.

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Objectives: Vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic (VEXAS) syndrome is an adult-onset autoinflammatory disease associated with somatic ubiquitin-like modifier-activating enzyme 1 (UBA1) mutations. We aimed to evaluate the efficacy and safety of targeted therapies.

Methods: Multicentre retrospective study including patients with genetically proven VEXAS syndrome who had received at least one targeted therapy.

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Objectives: To report real-life data on rituximab retention rate as an indicator of safety and efficacy in a multicentric national cohort of systemic sclerosis patients.

Methods: SSc patients treated with rituximab and followed for at least 36 months were included, clinically characterized and longitudinally monitored. A competing risk analysis with sub-hazard ratio (sHR) definition was performed to explore the clinical variables linked to specific cause of rituximab discontinuation.

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Introduction: Idiopathic inflammatory myopathies (IIM) represent a rare and heterogenous group diseases, and their treatment is not fully defined yet. According to previous small case series, the combination of mycophenolate mofetil (MMF) and rituximab (RTX) may be effective in controlling difficult-to-treat patients. Our aim was to further explore the efficacy and safety of this combined approach in patients with IIM.

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Article Synopsis
  • - VEXAS syndrome is a new autoinflammatory disease that often affects various organs, with noticeable inflammatory issues in the eyes and orbits.
  • - In a study of 59 VEXAS patients, 45.8% exhibited orbital/ocular problems, with periorbital edema and episcleritis being the most common conditions observed.
  • - There is a significant link between relapsing polychondritis and eye involvement in VEXAS, and patients with eye issues showed higher mortality rates, indicating the need for closer monitoring by healthcare providers.
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In SSc, dystrophic calcinosis is one of the major clinical manifestations, characterized by the deposition of insoluble calcific substances in tissues, predominantly in the chemical form of calcium hydroxyapatite. Furthermore, calcinosis might lead to compressive neuropathies and severe pain. Current evidence suggests that tissue ischemia and repeated trauma are implicated in the development of calcinosis; however, there are still too many unknown areas that need to be investigated.

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Objectives: Proton Pump Inhibitors (PPIs) are widely used in SSc for gastroesophageal reflux disease (GERD). However, there is little evidence to support their empirical use and long-term safety has been questioned. Our objective was to better describe clinicians' attitudes toward PPIs prescription and use in SSc patients.

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