Publications by authors named "Fredi M"

Article Synopsis
  • About 0.5-1% of women of childbearing age have anti-Ro/SSA and anti-La/SSB antibodies, potentially leading to Neonatal Lupus, primarily manifesting as complete heart block (AVB) in fetuses.
  • The study aims to assess the effectiveness of home monitoring of fetal heart rates using a handheld device in pregnant women with these antibodies and to see if early treatment can help.
  • Currently, patients are being recruited across 11 Italian centers for a prospective observational study, with regular monitoring and check-ups to track maternal and fetal health outcomes.
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  • * A total of 69 patients were analyzed, showing high concordance for certain antibodies (like anti-Ku and anti-PM/Scl) and moderate agreement for others (like anti-Jo1 and anti-Mi-2), while some antibodies could only be detected by one method.
  • * The results suggest that LB may be more sensitive for detecting multiple MSAs and specific antibodies, while IP performs well for dermatomyositis-associated MSAs
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Background: The incidence of skin cancer in patients with systemic lupus erythematosus (SLE) and systemic sclerosis (SSc) has only been investigated with retrospective studies enrolling a low number of patients. The aims of our study were to assess the incidence of skin cancer in two large cohorts of patients, one with SLE and the other with SSc and investigating possible risk factors.

Methods: Ninety SLE, 53 SSc patients and 392 control subjects were enrolled.

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  • The study examined pregnancy outcomes in women with autoimmune rheumatic diseases (ARD) enrolled in the Italian P-RHEUM.it cohort from 2018 to 2023, focusing on maternal and infant health.
  • Results showed that out of 866 pregnancies, 15.6% experienced maternal disease flares, 30.1% had obstetrical complications, and 91.7% resulted in live births, with a relatively low rate of perinatal deaths and complications.
  • The research concluded that effective preconception counseling and proper medication management during pregnancy may help reduce disease-related risks, suggesting that outcomes for women with ARD were comparable to those in the general obstetric population.
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  • * Recent research indicates that the connection between anti-dsDNA antibodies and kidney problems is weak, and it showcases a variety of other renal-targeting autoantibodies, including increased attention to the IgG2 isotype, which was previously overlooked.
  • * New "second wave antibodies" have emerged, which play a role in modulating inflammation in the kidneys, suggesting they could be key in refining treatment strategies and monitoring therapeutic responses in LN patients.
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Objectives: The management of neuropsychiatric systemic lupus erythematosus (NPSLE) poses considerable challenges due to limited clinical trials. Therapeutic decisions are customized based on suspected pathogenic mechanisms and symptoms severity. This study aimed to investigate therapeutic strategies and disease outcome for patients with NPSLE experiencing their first neuropsychiatric (NP) manifestation.

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This review focuses on the management of reproductive issues in women who have antiphospholipid syndrome (APS) or are carriers of antiphospholipid antibodies (aPL). The importance of aPL detection during preconception counselling relies on their pathogenic potential for placental insufficiency and related obstetric complications. The risk of adverse pregnancy outcomes can be minimized by individualized risk stratification and tailored treatment aimed at preventing placental insufficiency.

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Background: Vaccination is one of the most important measures to contain the COVID-19 pandemic, especially for frail patients. VACCINATE is a multicentre prospective observational study promoted by the European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Diseases (ERN ReCONNET) aimed at assessing the long-term outcomes of COVID-19 vaccination in patients with rare and complex connective tissue diseases (rcCTDs) in terms of efficacy and safety.

Methods: Adult rcCTDs patients were eligible for recruitment.

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Autoimmune diseases are generally characterized by a multifactorial etiology and are often associated with a genetic predisposition. Both iron metabolism and the inflammatory cytokine system have been shown to play a pivotal role in the dysregulation of the immune response in many different autoimmune conditions, rheumatologic diseases included. The purpose of this work was to analyze the frequency of mutations altering the expression of IL-6 or influencing iron metabolism in patients affected by autoimmune diseases such as Rheumatoid Arthritis (RA) and Systemic Lupus Erythematosus (SLE).

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Purpose: To characterize patients with APS type 4 among those affected by APS diagnosed and monitored at our local Reference Center for Autoimmune Polyglandular Syndromes.

Methods: Monocentric observational retrospective study enrolling patients affected by APS diagnosed and monitored in a Reference Center. Clinical records were retrieved and analyzed.

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  • The study aimed to compare COVID-19 outcomes among patients with systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), and spondyloarthritis (SPA) before vaccination, given conflicting data on their prognosis.
  • Analysis of the CONTROL-19 Database revealed that SLE and RA patients had similar severe outcome rates, while SPA patients had better outcomes than those with SLE.
  • Key risk factors for severe outcomes in SLE patients included being over 65, having hypertension, and using prednisone, while hydroxychloroquine use appeared to reduce risk.
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Purpose: To characterize patients with APS and to propose a new approach for their follow-up. Query ID="Q1" Text="Please check the given names and familynames."

Methods: Monocentric observational retrospective study enrolling patients referred to the Outpatients clinic of the Units of Endocrinology, Diabetology, Gastroenterology, Rheumatology and Clinical Immunology of our Hospital for Autoimmune diseases.

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Systemic lupus erythematosus (SLE) is a heterogeneous condition making assessment of disease activity challenging. However, thorough assessment is essential to evaluate patients longitudinally, to guide therapeutic decisions, and for clinical trials. Currently, the most popular disease activity index in clinical practice and trials is SLEDAI-2K.

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Background: The impact of immunosuppressive therapies on the efficacy of vaccines to SARS-CoV-2 is not completely clarified. We analyzed humoral and T cell-mediated response after COVID-19 mRNA vaccine in immunosuppressed patients and patients with common variable immunodeficiency disease (CVID).

Patients: We enrolled 38 patients and 11 healthy sex- and age-matched controls (HC).

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  • The study evaluated the effectiveness of belimumab for treating joint and skin symptoms in patients with systemic lupus erythematosus (SLE) using specific metrics like DAS28 and CLASI.
  • Results showed notable improvements, with increasing percentages of patients achieving remission in joint (DAS28) and skin (CLASI) symptoms over 24 months.
  • Belimumab was also found to reduce the need for glucocorticoids, and early responders (by 6 months) had a higher chance of achieving remission later in the treatment.
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Objective: A subanalysis of the multicentre Early Lupus inception cohort was performed to investigate the real-world Glucocorticoids (GCs) Use in newly diagnosed systemic lupus erythematosus (SLE) Patients (GULP).

Methods: Patients starting prednisone (PDN) ≥5 mg/day and concomitant hydroxychloroquine or immunosuppressant within 12 months of SLE classification were enrolled. Core set variables were recorded at baseline and every 6 months, including changes in PDN dose, European Consensus Lupus Activity Measurement (ECLAM) and Systemic Lupus International Collaborating Clinics damage index.

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Objectives: Neonatal lupus (NL) is an acquired disease caused by the transplacental passage of anti-SSA/Ro antibodies. The rate of congenital heart block (CHB), its most serious manifestation, ranges from 1 to 5%. The aim of this study was to retrospectively assess the prevalence of CHB in anti-SSA/Ro positive pregnant women with or without systemic autoimmune diseases from 2010 to 2020.

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Mechanisms for the generation of anti-dsDNA autoantibodies are still not completely elucidated. One theory states that dsDNA interacts for mimicry with antibodies raised versus other antigens but molecular features for mimicry are unknown. Here we show that, at physiological acid-base balance, anti-Annexin A1 binds IgG2 dsDNA in a competitive and dose-dependent way with Annexin A1 and that the competition between the two molecules is null at pH 9.

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Women with Rheumatoid Arthritis (RA) can experience flares during pregnancy that might influence pregnancy outcomes. We aimed at assessing the disease course during pregnancy and identifying risk factors for flares. Data about prospectively-followed pregnancies in RA were retrospectively collected before conception, during each trimester and in the post-partum period.

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Investigate the natural history of urinary incontinence (UI) in systemic sclerosis (SSc) and assess its impact on quality of life (QoL). A longitudinal, international observational study followed 189 patients with SSc for a median duration of 5 years (IQR: 4.8-5.

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Objectives: Several studies show that age at onset has an impact on the clinical-serological presentation, comorbidities and disease course of patients with systemic lupus erythematosus (SLE). We evaluated whether, in patients with recent onset SLE, the age at onset correlates with clinical-serological manifestations and with comorbidities.

Methods: We analysed 171 patients with a SLE diagnosis obtained within 12 months of diagnosis enrolled in the Early Lupus project.

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Article Synopsis
  • Autoimmune systemic diseases (ASD) increase the likelihood of contracting COVID-19, with a study of nearly 4,000 Italian ASD patients revealing a higher infection rate compared to the general population.
  • While ASD patients had more cases of COVID-19, their death rate was similar to that of the overall Italian population, though systemic sclerosis patients faced a higher risk of mortality.
  • Key factors influencing the severity of COVID-19 in ASD patients included older age, male gender, and certain medical treatments, with those on specific medications showing a significantly lower infection prevalence.
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Disease-specific autoantibodies are considered the most important biomarkers for systemic sclerosis (SSc), due to their ability to stratify patients with different severity and prognosis. Anti-nuclear antibodies (ANA), occurring in subjects with isolated Raynuad's phenomenon, are considered the strongest independent predictors of definite SSc and digital microvascular damage, as observed by nailfold videocapillaroscopy. ANA are present in more than 90% of SSc, but ANA negativity does not exclude SSc diagnosis: a little rate of SSc ANA negative exists and shows a distinct subtype of disease, with less vasculopathy, but more frequent lower gastrointestinal involvement and severe disease course.

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