Predictive Value of the DETECT Algorithm for Pulmonary Arterial Hypertension in Systemic Sclerosis: Findings from an Italian Observational Study.

Pulmonary arterial hypertension (PAH) is a complication of systemic sclerosis (SSc), and several screening algorithms have been proposed for the early detection of PAH in SSc. This study aimed to evaluate the predicting values of the DETECT algorithm for SSc-PAH screening in patients with SSc undergoing right heart catheterization (RHC) based on 2015 ESC/ERS echocardiographic criteria in a real-life setting. Patients fulfilling the 2013 ACR/EULAR classification criteria for SSc and with available data for PAH screening with the DETECT algorithm and the 2015 ESC/ERS echocardiographic criteria were retrospectively enrolled from January to June 2017 and then followed for 5 years.

Nintedanib in Rheumatoid Arthritis-Related Interstitial Lung Disease: Real-World Safety Profile and Risk of Side Effects and Discontinuation.

Objective: Some concerns remain about the safety of nintedanib in patients with rheumatoid arthritis-related interstitial lung disease (RA-ILD), such as in the presence of comorbidities or in combination with biologic, targeted synthetic, and/or conventional synthetic disease-modifying antirheumatic drugs (DMARDs). In this multicenter study, we retrospectively evaluated the safety of nintedanib in a real-world population of patients with RA-ILD from the Italian Group for the Study of Early Arthritis (GISEA) registry and the possible role of comorbidities and DMARDs on drug safety and withdrawal. Our secondary aim was to investigate the causes of nintedanib discontinuation.

Long-term outcome of autologous haematopoietic stem cell transplantation in patients with systemic sclerosis: a comparison with patients treated with rituximab and with traditional immunosuppressive agents.

Background: Autologous haematopoietic stem cell transplantation (AHSCT) is more effective than conventional immunosuppressive therapies (CIT) in improving the outcome of patients with rapidly progressive diffuse cutaneous systemic sclerosis (dcSSc). So far, there is still a paucity of data comparing AHSCT with rituximab (RTX). Aim of the study is to retrospectively compare, in patients with dcSSc, the effectiveness of AHSCT with that of RTX and CIT.

Overexpression of BAG3 (Bcl2-associated athanogene 3) in serum and skin of patients with systemic sclerosis.

Objectives: BAG3 (Bcl2-associated athanogene3) is able to induce the transformation of cancer-associated fibroblasts to alpha smooth muscle actin (a-SMA) positive (+) myofibroblasts. In systemic sclerosis (SSc), a-SMA+ myofibroblasts also play an important role in the progression of fibrosis in the skin and involved internal organs. The aim of the study was to investigate whether BAG3 is overexpressed in SSc and may be a biomarker of fibrogenesis.

The heterogeneity of lung involvement in vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome: a case of hypersensitivity pneumonitis-like pattern.

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.

Uncovering the Underworld of Axial Spondyloarthritis.

Axial spondyloarthritis (axial-SpA) is a multifactorial disease characterized by inflammation in sacroiliac joints and spine, bone reabsorption, and aberrant bone deposition, which may lead to ankylosis. Disease pathogenesis depends on genetic, immunological, mechanical, and bioenvironmental factors. HLA-B27 represents the most important genetic factor, although the disease may also develop in its absence.

Tocilizumab in Juvenile Idiopathic Arthritis Associated Uveitis, a Narrative Review.

Juvenile idiopathic arthritis (JIA) associated uveitis (JIA-U) is the most common extra-articular manifestation of JIA, affecting 10-15% of patients, especially in oligoarticular JIA where its course may be faint. Therefore, JIA-U is one of the most challenging pediatric uveitis, associated with major ocular morbidity and possibly leading to irreversible structural ocular damage and to vision-threatening complications. Adequate management is crucial for avoiding visual impairment complications.

PTBP1-activated co-transcriptional splicing controls epigenetic status of pluripotent stem cells.

Many spliceosomal introns are excised from nascent transcripts emerging from RNA polymerase II (RNA Pol II). The extent of cell-type-specific regulation and possible functions of such co-transcriptional events remain poorly understood. We examined the role of the RNA-binding protein PTBP1 in this process using an acute depletion approach followed by the analysis of chromatin- and RNA Pol II-associated transcripts.

The complex CBX7-PRMT1 has a critical role in regulating E-cadherin gene expression and cell migration.

The Chromobox protein homolog 7 (CBX7) belongs to the Polycomb Group (PcG) family, and, as part of the Polycomb repressive complex (PRC1), contributes to maintain transcriptional gene repression. Loss of CBX7 expression has been reported in several human malignant neoplasias, where it often correlates with an advanced cancer state and poor survival, proposing CBX7 as a candidate tumor-suppressor gene in cancer progression. Indeed, CBX7 is able to positively or negatively regulate the expression of genes involved in cell proliferation and cancer progression, such as E-cadherin, cyclin E, osteopontin, EGR1.

[Description and impact of a structured psychoeducational and salutogenetic approach (InteGRO) to support the recovery of people with severe mental disorders].

Aim: In mental health services there is an increasing attention to the recovery of people with severe mental illness. Consequently there is a growing literature on this topic focused above-all on the description of excellence paths that often include variables related to the organizational aspects of the service. Less attention is given to specific interventions to foster all the goals that are essential to improve the living conditions, including defining and planning goal, emotional perception, effective communication for negotiation, practical interpersonal and intrapersonal problem-solving.

HLA-G and anti-HCV in patients on the waiting list for kidney transplantation.

Purpose: Human leukocyte antigen (HLA)-G is a non-classic major histocompatibility complex HLA class I molecule. HLA-G may have tolerogenic properties which are linked to epigenetic-sensitive pathways. There is a correlation of sHLA-G levels and graft acceptance in transplantation studies.

Occult Hepatitis Infection in Transfusion Medicine: Screening Policy and Assessment of Current Use of Anti-HBc Testing.

HBV still represents a global risk factor in transfusion medicine. The residual risk of HBV is not limited to pre-seroconversion window period but it extends to donors with occult HBV infection (OBI) characterized by the presence of HBV DNA in liver and by the absence of the virus surface antigen. Each country developed an appropriate blood screening policy according to local HBV prevalence, yields of infectious units per different screening methods and cost-effectiveness.

Promoting Mental Health in Italian Middle and High School: A Pilot Study.

Aim: In Italy, a handbook has been developed based on the principles of cooperative learning, life skills, self-effectiveness, and problem-solving at high school level. Early studies have shown the handbook's effectiveness. It has been hypothesized that the revised handbook could be more effective in middle schools.

Comparison of performance of two Treponema pallidum automated chemiluminescent immunoassays in blood donors.

The recrudescence of syphilis is leading to the development of new serological tests. The goal of this study was to compare the performance of the more recent Elecsys Syphilis assay, the Electro Chemiluminescence Immunoassay (ECLIA), with the former Architect Syphilis TP assay, the Chemiluminescent Microparticle Immunoassay (CMIA), for the detection of antibodies against Treponema pallidum in blood donors. Serum samples of 5543 voluntary blood donors were screened in parallel with two tests.

Innate and adaptive immune response in stroke: Focus on epigenetic regulation.

Inflammation and immune response play a pivotal role in the pathophysiology of ischemic stroke giving their contribution to tissue damage and repair. Emerging evidence supports the involvement of epigenetic mechanisms such as methylation, histone modification and miRNAs in the pathogenesis of stroke. Interestingly, epigenetics can influence the molecular events involved in ischemic injury by controlling the switch from pro- to anti-inflammatory response, however, this is still a field to be fully explored.

Promoter-like epigenetic signatures in exons displaying cell type-specific splicing.

Background: Pre-mRNA splicing occurs mainly co-transcriptionally, and both nucleosome density and histone modifications have been proposed to play a role in splice site recognition and regulation. However, the extent and mechanisms behind this interplay remain poorly understood.

Results: We use transcriptomic and epigenomic data generated by the ENCODE project to investigate the association between chromatin structure and alternative splicing.

Syphilis detection: evaluation of serological screening and pilot reverse confirmatory assay algorithm in blood donors.

Serological assays are still considered the most useful tests in the diagnosis of syphilis. Since no single serological assay is able to provide a satisfactory result, in our laboratory we have evaluated the usefulness of a commercially-available immunoblot to diagnose syphilis infection among blood donors. From October 2012 to June 2013, 4572 blood donors were screened for syphilis with an automated chemiluminescent microparticle immunoassay (CMIA).

[Evaluation of the impact of the new version of a handbook to promote psychological wellbeing and emotional intelligence in the schools (students aged 12-15)].

Aim: A recent study has demonstrated the effectiveness of a structured intervention based on a manual of mental health promotion for students of secondary schools developed by the Istituto Superiore di Sanità based on the "cooperative learning", the "life skills" and "self-efficacy"; unfortunately, the results were less significant than expected. The Authors made changes to the Handbook for Students simplifying the language to allow its use even in middle schools. The present study aims at evaluating the effectiveness of this new version of the manual that includes a notebook.

Role of six single nucleotide polymorphisms, risk factors in coronary disease, in OLR1 alternative splicing.

The OLR1 gene encodes the oxidized low-density lipoprotein receptor (LOX-1), which is responsible for the cellular uptake of oxidized LDL (Ox-LDL), foam cell formation in atheroma plaques and atherosclerotic plaque rupture. Alternative splicing (AS) of OLR1 exon 5 generates two protein isoforms with antagonistic functions in Ox-LDL uptake. Previous work identified six single nucleotide polymorphisms (SNPs) in linkage disequilibrium that influence the inclusion levels of OLR1 exon 5 and correlate with the risk of cardiovascular disease.