Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs.

Unlabelled: Thalassemias and hemoglobinopathies are among the most common genetic diseases worldwide and have a significant impact on public health. The decreasing cost of next-generation sequencing (NGS) has quickly enabled the development of new assays that allow for the simultaneous analysis of small nucleotide variants (SNVs) and copy number variants (CNVs) as deletions/duplications of α- and β-globin genes.

Background/objectives: This study highlighted the efficacy and rapid identification of all types of mutations in the α- and β-globin genes, including silent variants, using the Devyser Thalassemia NGS kit.

Prevalence and mortality trends of hemoglobinopathies in Italy: a nationwide study.

Not available.

The clinical assessment of lung involvement in patients with Still's disease, results from the multicentre international AIDA Network Still's Disease Registry.

Objectives: To assess the lung involvement in patients with Still's disease, an inflammatory disease assessing both children and adults. To exploit possible associated factors for parenchymal lung involvement in these patients.

Methods: A multicentre observational study was arranged assessing consecutive patients with Still's disease characterized by the lung involvement among those included in the AIDA (AutoInflammatory Disease Alliance) Network Still's Disease Registry.

Pulmonary Arterial Hypertension Incidence in Scleroderma Patients Treated with Bosentan for Digital Ulcers: Evidence from the Italian SPRING Registry.

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 SPRING registry.

Methods: Patients with SSc from the SPRING registry, meeting ACR/EULAR 2013 classification criteria with data on PAH onset, DU status, BOS exposure, and at least a one-year follow-up between 2015 and 2020, and no known PAH at baseline were included.

The Challenging Problems of Cancer and Serious Mental Illness.

PURPOSE OF REVIEW: Patients with Serious Mental Illness (SMI) are reported to be at higher risk for somatic disorders (e.g. cardiovascular and metabolic diseases) and higher mortality, compared to the general population, because of the consequences of SMI including psychotropic medication side effects, sedentary and unhealthy lifestyle, difficult access to physical health care.

Evolution of autoimmune diagnostics over the past 10 years: lessons learned from the UK NEQAS external quality assessment EQA programs.

Objectives: External quality assessment (EQA) programs play a pivotal role in harmonizing laboratory practices, offering users a benchmark system to evaluate their own performance and identify areas requiring improvement. The objective of this study was to go through and analyze the UK NEQAS "Immunology, Immunochemistry and Allergy" EQA reports between 2012 and 2021 to assess the overall level of harmonization in autoimmune diagnostics and identify areas requiring improvement for future actions.

Methods: The EQA programs reviewed included anti-nuclear (ANA), anti-dsDNA, anti-centromere, anti-extractable nuclear antigen (ENA), anti-phospholipids, anti-neutrophil cytoplasm (ANCA), anti-proteinase 3 (PR3), anti-myeloperoxidase (MPO), anti-glomerular basement membrane (GBM), rheumatoid factor (RF), anti-citrullinated protein antibodies (ACPA), mitochondrial (AMA), liver-kidney-microsomal (LKM), smooth muscle (ASMA), APCA, and celiac disease antibodies.

Polymer-free versus biodegradable-polymer drug-eluting stent in patients undergoing percutaneous coronary intervention: an assessor-blind, non-inferiority, randomised controlled trial.

Background: Few data are available on polymer-free drug-eluting stents in patients undergoing percutaneous coronary intervention (PCI).

Aims: We aimed to determine the efficacy and safety of a polymer-free amphilimus-eluting stent (AES), using a reservoir-based technology for drug delivery, compared with a biodegradable-polymer everolimus-eluting stent (EES).

Methods: This was a randomised, investigator-initiated, assessor-blind, non-inferiority trial conducted at 14 hospitals in Italy (ClinicalTrials.

Kappa Free Light Chains in Multiple Sclerosis as a Marker of Intrathecal Humoral Response: A Sex-Disaggregated Study.

Background: Kappa free light chains (KFLCs) are emerging as promising biomarkers for intrathecal B cell activity for diagnosing multiple sclerosis (MS) through cerebrospinal fluid (CSF) analysis. In this study, we evaluated the ability of KFLC formulas to identify the presence of MS and their agreement with the 'gold standard' of CSF IgG oligoclonal bands (OCBs).

Methods: A total of 233 patients were included in this study: 149, comprising 43 males and 106 females, had MS, and the remainder, 40 males and 44 females, had other neurological diseases (ONDs).

Combination of clinical factors predicts successful glucocorticoid withdrawal in systemic lupus erythematosus (SLE): results from a multicentre, retrospective cohort study.

Objective: Glucocorticoid (GC) tapering and withdrawal to reduce damage represents a key aspect of the European Alliance of Associations for Rheumatology (EULAR) SLE recommendations. However, optimal strategies for relapse-free GC cessation remain ill-defined. We characterised clinical predictors and their combined effect on flares in patients with SLE who discontinued GC.

Seasonal patterns of myositis-specific and myositis-associated autoantibodies in Italy: Seasonal patterns of myositis autoantibodies.

Objective: Idiopathic inflammatory myopathies (IIM) are a heterogeneous group of systemic autoimmune disorders affecting skeletal muscles but also other organs. There are different forms of IIM, each with peculiar clinical manifestations and prognosis. Accordingly, several autoantibodies have been described in IIM, with different prevalence in the different forms of the disease.

Care pathways for individuals with post-anoxic disorder of consciousness (CaPIADoC): an inter-society Consensus Conference.

Background: Accurate recognition of consciousness level and detection of neurological complications since the intensive care unit are crucial for an appropriate prognostication and tailored treatment in patients with post-anoxic disorder of consciousness (DoC).

Objective: The present inter-society Consensus Conference aimed at addressing current debates on diagnostic and prognostic procedures.

Methods: Twelve working groups involving 22 multidisciplinary professionals (membership of 9 Scientific Societies and 2 patients' family Associations) conducted a systematic literature review focused on 12 questions addressing diagnosis (n = 5) and prognosis (n = 7).

Outcomes of Mechanical Thrombectomy in Patients With Acute Basilar Artery Occlusion With Mild to Moderate Symptoms.

Background And Objectives: The benefit of mechanical thrombectomy (MT) in patients with acute ischemic stroke (AIS) with basilar artery occlusion (BAO) and a baseline National Institute of Health Stroke Scale (NIHSS) score <10 is unclear because this subpopulation has been substantially excluded from large clinical trials. The aim of our study was to determine whether MT ± IV thrombolysis (IVT) improves functional outcomes compared with IVT alone in patients with BAO and a NIHSS score <10.

Methods: We emulated a hypothetical trial including adult patients with BAO, a baseline NIHSS score <10, and prestroke modified Rankin scale (mRS) scores 0-2, comparing MT (±IVT) with IVT alone.

Stroke thrombectomy in the elderly: A propensity score matched study on a nationwide real-world registry.

Introduction: Data on safety and efficacy of endovascular thrombectomy (EVT) for acute ischemic stroke in older patients are limited and controversial, and people aged 80 or older were under-represented in randomized trials. Our aim was to assess EVT effect for ischemic stroke patients aged ⩾80 at a nationwide level.

Patients And Methods: The cohort included stroke patients undergoing EVT from the Italian Registry of Endovascular Treatment in Acute Stroke (IRETAS).

Five-year clinical outcomes of STEMI patients treated with a pre-specified bioresorbable vascular scaffold implantation technique: Final results of the BVS STEMI STRATEGY-IT.

Background: Data on Absorb bioresorbable vascular scaffold (BVS) use in patients presenting with ST-segment elevation myocardial infarction (STEMI) are limited. Furthermore, Absorb studies including STEMI patients lacked a prespecified implantation technique to optimize BVS deployment. This study examines the 5-year outcomes of BVS in STEMI patients using an optimized implantation strategy and the impact of prolonged dual antiplatelet therapy (DAPT).

Evaluation of Myocarditis in Patients With Still Disease: Clinical Findings From the Multicenter International AIDA Network Still Disease Registry.

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.

Neuropsychiatric prodromes and symptom timings in relation to disease onset and/or flares in SLE: results from the mixed methods international INSPIRE study.

Background: Neuropsychiatric symptoms in SLE and other systemic autoimmune rheumatic diseases (SARDs) are challenging to diagnose, attribute and manage. We investigated the timings of onset of a broad range of neuropsychiatric (NP) symptoms in relation to timing of SLE onset. In addition, we explored whether NP symptoms may be a prodrome to SARD onset and to subsequent flares.

Differentiating sensor changes in a composite heart failure ICD monitoring index: clinical correlates and implications.

Background: The HeartLogic algorithm (Boston Scientific, St Paul, MN) integrates data from implantable cardioverter-defibrillator (ICD) sensors to predict heart failure (HF) decompensation: first (S1) and third (S3) heart sounds, intrathoracic impedance, respiration rate, ratio of respiration rate to tidal volume (RSBI), and night heart rate.

Objective: This study assessed the relative changes in ICD sensors at the onset of HeartLogic alerts, their association with patient characteristics, and outcomes.

Methods: The study included 568 patients with HF carrying ICDs (CRT-D, n = 410) across 26 centers, with a median follow-up of 26 months.