Publications by authors named "Andrea Doria"

Objectives: This pilot study aimed to identify early predictors of drug retention in patients with clinically active peripheral psoriatic arthritis who initiated or switched to therapy with biologic and targeted synthetic disease-modifying antirheumatic drugs (bDMARDs and tsDMARDs).

Methods: Clinical and ultrasound assessments were conducted at baseline (t0) and subsequently at 1 (t1), 3 (t3), and 6 (t6) months. Ultrasound evaluations targeted joints/entheses according to PsASon-Score13 and the most clinically involved joint/enthesis/tendon or the two most clinically involved joints/entheses/tendons (MIJET and 2MIJET).

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Objectives: The 2023 ACR/EULAR antiphospholipid syndrome (APS) classification criteria distinguish between anticardiolipin (aCL) or anti-β2-glycoprotein I (aβ2GPI) IgG vs IgM isotypes, having isolate IgM positivity a low weight, insufficient for APS classification, and define aCL and aβ2GPI thresholds based on fixed cut-off values. We aimed to assess the performance of the 2023 ACR/EULAR criteria in a cohort of primary vascular APS patients (PAPS), previously classified according to the Sydney criteria. Additionally, we evaluated the risk of thrombotic recurrence in patients re-classified or not according to the new criteria.

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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.

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Objectives: Anticentromere antibodies (ACA) are typically found in limited cutaneous systemic sclerosis (lcSSc), whereas patients with anti-topoisomerase I antibodies (ATA) usually exhibit diffuse cutaneous involvement (dcSSc). We aimed to investigate the clinical phenotype and outcome of ACA-dcSSc.

Methods: A systematic literature review was conducted (January 1970 to April 2023) across MEDLINE, Scopus and OVID, to define whether SSc patients (population) within the ACA-dcSSc subset (exposure) had higher/lower risk for major organ involvement (interstitial lung disease-ILD, pulmonary hypertension-PH, primary myocardial involvement-PMI, scleroderma renal crisis-SRC) and mortality (outcomes) compared to ACA-lcSSc and ATA-dcSSc.

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Background: Screening programmes for the detection of patients with hepatitis C virus (HCV) and positive viral load have been developed in many countries to achieve the World Health Organization's goal of HCV elimination by 2030. In Italy, a phased screening programme starting with individuals born between 1969 and 1989 has been implemented.

Aim: To assess the prevalence of patients with positive viraemia identified through a universal screening campaign conducted among hospitalised patients at our centre during the calendar year 2022.

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Article Synopsis
  • HE4 is a protein that helps promote fibrosis by preventing collagen breakdown; this study aimed to evaluate HE4 as a biomarker for interstitial lung disease (ILD) in patients with idiopathic inflammatory myopathies (IIMs).
  • Researchers enrolled 90 IIMs patients and 42 healthy controls, finding that serum HE4 levels were significantly higher in patients with IIMs, particularly in those diagnosed with ILD.
  • The study concluded that HE4 levels could serve as a useful biomarker for detecting and assessing ILD in IIMs patients, although there was no significant link between baseline HE4 and progressive fibrosing ILD in follow-up cases.
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  • The study assessed how well diffusion-weighted MRI can distinguish between malignant neuroblastoma and benign neuroblastic tumors, using different sizes of regions of interest (ROIs).
  • The research involved 40 pediatric patients and compared the imaging results with histopathology to establish diagnostic accuracy, showing strong sensitivity (83%) and specificity (75%) for using the apparent diffusion coefficient (ADC).
  • The findings suggest that small ROIs may yield slightly better accuracy in differentiating these tumor types, emphasizing the importance of standardizing ROI sizes in future studies.
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Introduction: Coronavirus disease 2019 (COVID-19) vaccines aroused concerns about the risk of flares and adverse events in inflammatory arthritis (IA) since the vaccine clinical trials did not specifically investigate this subset of patients.

Methods: A systematic literature review and meta-analysis to summarize the data on joint disease flare and adverse events following immunization (AEFI). Two researchers independently evaluated the literature on Pubmed, Scopus, and EMBASE databases from 22 March 2020 to 30 September 2023.

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Objective: To optimise the organisation of care and encourage the adoption of good clinical practices, the RarERN Path methodology was designed within ERN ReCONNET. The aim of our work was to report the application of RarERN Path on systemic sclerosis within the ERN ReCONNET centres, providing a feasible and flexible organisational reference model for optimising the systemic sclerosis care pathway in different countries.

Methods: RarERN Path is a six-phase methodology which enables the creation of a reference organisational model co-designed on the basis of the expertise of different stakeholders.

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Wilms tumors are commonly associated with predisposition syndromes. Many of these syndromes are associated with specific phenotypic features and are discussed in the related article from the AACR Pediatric Cancer Working Group. Guidelines for surveillance in this population were published in 2017, but since then several studies have identified new genes with recurrent pathogenic variants associated with increased risk for Wilms tumor development.

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  • VEXAS syndrome is a newly identified autoinflammatory disorder caused by mutations in the UBA1 gene, particularly observed in blood progenitor cells, with a notable characteristic of having vacuoles present in these cells.
  • The study aimed to compare blood samples from VEXAS patients against those with other conditions (ANCA-associated vasculitis and familial Mediterranean fever) and healthy individuals to find specific features that aid in diagnosing VEXAS.
  • Results indicated that VEXAS patients had more immature neutrophils and a higher number of vacuoles compared to controls, with a strong correlation between higher cell death rates and elevated levels of inflammatory markers, suggesting that cytological tests could
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Objectives: Eosinophilic granulomatosis with polyangiitis (EGPA) is frequently associated with refractory chronic rhinosinusitis with nasal polyps (CRSwNP), despite current treatments. Dupilumab demonstrated efficacy in the treatment of severe and uncontrolled CRSwNP, with improvements in patient-reported outcome measures and in objective measurements. This study aims to evaluate efficacy and safety of dupilumab in refractory CRSwNP in EGPA patients.

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Objectives: to evaluate over a 48-month follow-up period the: 1) long-term effectiveness and safety; 2) drug retention rate (DRR); 3) impact of comorbidities and bDMARDs line on MDA and DAPSA remission/low disease activity (LDA) of secukinumab in a multicenter Italian cohort of PsA patients.

Methods: Consecutive PsA patients receiving secukinumab were followed prospectively in Italian centers between 2016 and 2023. Disease characteristics, previous/ongoing treatments, comorbidities and follow-up duration were recorded.

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Objectives: This study quantified anti-PTX3 antibodies in the serum of seropositive and seronegative rheumatoid arthritis (RA) patients, examining their associations with disease activity and patient-reported outcomes (PROMs).

Methods: In this cross-sectional study, RA patients diagnosed per ACR/EULAR 2010 criteria were recruited. Seronegative RA was defined as ACPA < 7 kU/l.

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Article Synopsis
  • - Wilms tumors are linked to various predisposition syndromes, many of which involve overgrowth and an increased risk for other cancers like hepatoblastoma.
  • - In 2017, surveillance guidelines for patients at risk for Wilms tumors were established, and the AACR Pediatric Cancer Working Group recently updated these guidelines based on new research and risk data.
  • - The update aims to inform healthcare professionals—including pediatric oncologists and geneticists—about revised diagnostic criteria and to standardize surveillance recommendations in North America and Australia for patients with relevant syndromes.
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Rationale And Objectives: Physicians report a lack of Transgender and Gender Diverse (TGD) health competency for medical imaging. This knowledge gap contributes to negative medical imaging experiences, discrimination, stigma, and diagnostic errors for TGD individuals. Medical education plays an important role in improving this.

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Whole-body MRI (WBMRI) is an integral part of screening infants, children, and adolescents for presymptomatic neoplasms in certain cancer predisposition syndromes, which include Li-Fraumeni and constitutional mismatch repair deficiency syndromes, among others. The list of syndromes in which WBMRI adds value, as part of a comprehensive surveillance protocol, continues to evolve in response to new evidence, growing experience, and more widespread adoption. In July 2023, the AACR reconvened an international, multidisciplinary panel to revise and update recommendations stemming from the 2016 AACR Special Workshop on Childhood Cancer Predisposition.

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Calcinosis, a common complication in juvenile dermatomyositis (JDM), affects up to 40% of patients and can be associated with uncontrolled disease activity and morbidity.A 9-year-old female with a 17-month history of JDM presented with worsened bilateral knee pain.

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  • Drug-induced vasculitis is a common type that mimics ANCA vasculitis, often linked to cocaine and levamisole use.
  • These substances lead to various autoimmune conditions, including cocaine-induced midline destructive lesions and forms of vasculitis, creating a complex overlap in symptoms.
  • The exact mechanisms of how cocaine causes these autoimmune issues remain unclear, complicating diagnosis and treatment, especially when there's no suspicion of drug abuse.
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  • Genomic instability disorders involve DNA or chromosomal issues that can lead to developmental problems, immunodeficiency, and a higher likelihood of childhood cancers, along with extreme sensitivity to cancer treatments.
  • The American Association of Cancer Research held a workshop in July 2023, where experts discussed updated guidelines for managing and monitoring children at risk for cancer due to these disorders.
  • The article emphasizes the need to identify children with genomic instability disorders for accurate diagnosis, genetic counseling, and informed decisions regarding cancer screening and treatment options.
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  • The study aimed to understand physicians' preferences regarding diagnostic pathways and treatment priorities for systemic lupus erythematosus (SLE) through a discrete choice experiment (DCE).
  • A total of 95 clinicians, mainly rheumatologists, participated in the DCE, revealing that "referral time to a rheumatologist" was highly prioritized, especially in mild-moderate and severe SLE cases.
  • Results indicated a strong preference for treatments that prevent organ damage over other factors, with physician awareness about the critical need for timely diagnosis and prevention of damage in SLE management being consistent across different medical specialties.
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Objectives: Starting from the unmet need of early diagnosis and treatment in systemic lupus erythematosus (SLE), the study aims to explore patient preferences in diagnostic pathways and treatment modalities. It seeks to integrate clinical priorities with patient perspectives, providing an optimal approach to SLE treatment that remains uncertain.

Methods: A discrete choice experiment (DCE) has been conducted to investigate whether patient preferences align while maintaining consistent attributes and levels, providing a direct assessment of relative preferences and hypothetical treatment approaches in SLE.

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