Recombinant human hyaluronidase-facilitated subcutaneous immunoglobulin (hf-SCIg) for inflammatory myositis: a multicenter retrospective real-world observational study.

Background: Subcutaneous immunoglobulin (SCIg) is a promising alternative to intravenous Ig (IVIg) for the treatment of idiopathic inflammatory myositis (IIM), thanks to its more favorable safety profile, reduced costs, and lower impact on patients' quality of life. We assessed the short- and long-term effectiveness and safety of recombinant human hyaluronidase-facilitated SCIg (hf-SCIg) in patients with IIM treated at different referral centers in Italy.

Methods: A multicenter, retrospective, real-life cohort study was conducted on consecutive adult patients diagnosed with IIM according to the EULAR/ACR criteria, treated with hf-SCIg for remission induction or maintenance.

Clinical Presentation and Outcomes of Antineutrophil Cytoplasmic Autoantibody-Negative Pauci-Immune Glomerulonephritis.

Introduction: Antineutrophil cytoplasmic autoantibody (ANCA)-associated vasculitis is a rare, complex autoimmune condition. Although ANCAs have a pathogenic role, they are considered a suboptimal biomarker of disease activity. Previous studies suggest differences in clinical phenotypes and outcomes in those without detectable circulating autoantibody.

Reasons for Breastfeeding Avoidance: A Multicenter Insight in Mothers With Systemic Lupus Erythematosus.

Background: Limited research exists on breastfeeding among women with systemic lupus erythematosus, despite known benefits of human milk.

Research Aim: To investigate reasons for breastfeeding avoidance among postpartum women with systemic lupus erythematosus.

Methods: This is a descriptive study, conducted in January 2023, combining retrospective pregnancy outcome data collection with a structured telephone questionnaire.

Glucocorticoids versus glucocorticoids plus cyclophosphamide in eosinophilic granulomatosis with polyangiitis without poor-prognosis factors: a target trial emulation study.

Objectives: Current recommendations suggest treating eosinophilic granulomatosis with polyangiitis (EGPA) without severe manifestations with glucocorticoids (GCs) and EGPA with severe manifestations with GCs plus cyclophosphamide (CYC) regardless of poor-prognostic factors. However, GCs plus CYC and GCs alone have never been compared in EGPA without poor-prognosis factors assessed by the 1996 Five Factor Score (FFS). We aimed to compare the efficacy of GCs plus CYC vs GCs alone for the treatment of EGPA without poor-prognosis, including among patients with severe manifestations.

Transition in inherited metabolic diseases: the dietitians, pediatricians and adult physicians' point of view: the results of an Italian survey.

Background: Patients affected by inherited metabolic diseases (IMDs), through effective newborn screening and better clinical management, are living longer and have a lower burden of disease; this rises the challenge of properly taking life-long care of them as they age. This study aims to assess the Italian experience with the transition of patients affected by IMDs from pediatrician to adult care, focusing on the dietetic approach as well. For this purpose, a survey was created on REDCap® and distributed via email to the members of the "Dietetics and Nutrition Working Group" and "Inherited Metabolic Diseases in Adults Working Group" of "Italian IMD and Newborn Screening Society" (SIMMESN); dissemination was possible with the collaboration of MetabERN.

Impact of mepolizumab on the AAV-PRO questionnaire in eosinophilic granulomatosis with polyangiitis: data from a European multicentre study.

Objectives: To prospectively evaluate the impact and the rapidity of the effect of mepolizumab on the ANCA-associated vasculitis patient-reported outcomes (AAV-PRO) questionnaire and patient global assessment (PtGA) in an international, multicentre cohort of patients with eosinophilic granulomatosis with polyangiitis (EGPA).

Methods: Patients with active EGPA initiating treatment with mepolizumab were included. PtGA and the AAV-PRO score were assessed at baseline and after 7, 14, 30, 90 and 180 days.

Mepolizumab versus benralizumab for eosinophilic granulomatosis with polyangiitis (EGPA): A European real-life retrospective comparative study.

Background: Following the results of the MANDARA trial, this real-life study aimed at comparing the effectiveness and safety profile of mepolizumab versus benralizumab in a European EGPA cohort.

Methods: We conducted a retrospective observational comparative study including EGPA patients, who received mepolizumab or benralizumab at the asthma dose. Patients were matched 1:1 by sex, age, BVAS and oral corticosteroid (OCS) dosage at the treatment initiation (T0).

Epigenetics in autoimmune diseases: Unraveling the hidden regulators of immune dysregulation.

Autoimmune diseases result from complex interactions between genetic and environmental factors. Recent advances in epigenetic research shed light on the intricate regulatory mechanisms that contribute to the development and progression of such conditions. The present review aims to explore the role of epigenetic modifications, including DNA methylation, histone modifications, and non-coding RNAs, in the context of autoimmune diseases.

The Italian Society for Rheumatology guidelines on reproductive health in patients with rheumatic diseases.

Objective: To date, there is no shared national guideline in Italy for the management of reproductive health in rheumatic diseases (RHRD). The Italian Society for Rheumatology (SIR) has committed to developing clinical practice recommendations to provide guidance on both management and treatment regarding RHRD in Italy.

Methods: Using the GRADE-ADOLOPMENT methodology, a systematic literature review was conducted to update the scientific evidence that emerged after the publication of the reference recommendations from the American College of Rheumatology.

Efficacy and safety of infliximab or adalimumab in severe mucocutaneous Behçet's syndrome refractory to traditional immunosuppressants: a 6-month, multicentre, randomised controlled, prospective, parallel group, single-blind trial.

Introduction: Evidence from randomised controlled trials on anti-tumour necrosis factor (TNF) agents in patients with Behçet's syndrome (BS) is low.

Method: We conducted a phase 3, multicentre, prospective, randomised, active-controlled, parallel-group study to evaluate the efficacy and safety of either infliximab (IFX) or adalimumab (ADA) in patients with BS. Adults patients with BS presenting with active mucocutaneous manifestations, occurring while on therapy with either azathioprine or cyclosporine for at least 3 months prior to study entry, were eligible.

Optical coherence tomography angiography findings in patients affected by giant cell arteritis, with and without ocular involvement: a pilot study.

Purpose: We evaluated the clinical features and retinal and disk perfusion characteristics by using optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA) in a subset of giant cell arteritis (GCA) patients who manifested anterior ischemic optic neuropathy (AION), in a subset of GCA patients without ocular involvement, and in a control group composed of healthy controls.

Methods: We performed an observational study on the eyes of GCA patients affected by arteritic AION both in acute and chronic phases, unaffected eyes of AION, eyes of GCA patients without ocular involvement, and in a control group of healthy eyes of healthy individuals. All patients underwent a complete ophthalmic examination and an OCT and OCTA of the macula and the disk.

Towards needed improvements in inherited metabolic medicine in adulthood: The SIMMESN adult metabolic working group and MetabERN Joint Position Statement.

Inherited metabolic disorders (IMDs), previously considered as a paediatric sub-specialisation are more and more prevalent in adults, thanks to improved survival, and the expansion of diagnostic tools detecting attenuated-late onset forms in adulthood. Italy is one of the countries with the highest number of IMDs screened by dry blood spots in neonates, allowing them to receive early treatments and to reach adult age. Despite this, awareness of IMDs is still low by the adult medical community, with difficulties in transition and transfer of patients to adult services and unmet patient needs.

The impact of environmental factors on aetiopathogenesis and clinical manifestations of Behçet's syndrome.

Behçet's syndrome (BS) is a rare multisystem vasculitis involving blood vessels of any size. BS aetiology is still unclear to date, and the heterogeneity of clinical expression among ethnics and genders make early diagnosis challenging. However, so far, considerable efforts have been made toward the understanding of BS, leading researchers to agree that the coexistence of some environmental triggers and a genetical susceptibility both underlie BS aetiopathogenesis.

Validation of the Italian version of the ANCA-associated vasculitis patient-reported outcome (AAV-PRO) questionnaire.

Objectives: The primary objective of this study was the translation and validation of the ANCA-associated vasculitis patient-reported outcome (AAV-PRO) questionnaire into Italian, denoted as AAV-PRO_ita. The secondary objective was to evaluate the impact of ANCA-associated vasculitis (AAV) on quality of life (QoL) and work impairment in a large cohort of Italian patients.

Methods: The study design took a prospective cohort study approach.

Dupilumab for relapsing or refractory sinonasal and/or asthma manifestations in eosinophilic granulomatosis with polyangiitis: a European retrospective study.

Background: Eosinophilic granulomatosis with polyangiitis (EGPA) is often associated with glucocorticoid-dependent asthma and/or ear, nose and throat (ENT) manifestations. When immunosuppressants and/or mepolizumab are ineffective, dupilumab could be an option. We describe the safety and efficacy of off-label use of dupilumab in relapsing and/or refractory EGPA.

Prevalence and clinical associations of ultrasound-confirmed enthesitis in systemic lupus erythematosus.

Objectives: To assess the prevalence of US-confirmed enthesitis in a cohort of patients with SLE and to analyse the clinical associations to enthesitis during the course of SLE.

Methods: In a retrospective analysis of the SLE cohort of the Lupus Unit of the Careggi University Hospital, US examinations of SLE patients presenting with tender and/or swollen joints were retrieved to assess the presence of enthesitis. Patients with US-proven enthesitis were compared with SLE controls with tender and/or swollen joints who showed no US evidence of enthesitis.

Persistent Isolated C3 Hypocomplementemia as a Strong Predictor of End-Stage Kidney Disease in Lupus Nephritis.

Introduction: Proliferative lupus nephritis (LN) progresses to end-stage kidney disease (ESKD) in roughly 10% of the cases despite treatment. Other than achieving <0.8 g/24h proteinuria at 12 months after treatment, early biomarkers predicting ESKD or death are lacking.