The Expanded Risk Score in Rheumatoid Arthritis: performance of a disease-specific calculator in comparison with the traditional prediction scores in the assessment of the 10-year risk of cardiovascular disease in patients with rheumatoid arthritis

The increased risk of cardiovascular disease has emerged as a major issue in patients with rheumatoid arthritis – it has been estimated that the cardiovascular disease burden in rheumatoid arthritis is comparable to that of diabetes mellitus

A novel missense mutation for Fabry disease detected by echocardiographic screening in left ventricular hypertrophy patients

Fabry disease is an X-linked lysosomal storage disease caused by mutations in the a-galactosidase A gene (GLA), leading to the absence or a reduction of the enzymatic activity of the encoded enzyme and subsequent progressive tissue accumulation of glycosphingolipids through-out all the body, with consequent multiorgan failure. Here, we report the case of a 57-year-old woman with Fabry disease due to a novel GLA gene mutation

Long-Term Outcome and Risk Stratification in Dilated Cardiolaminopathies

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Correction: Age-specific reference values for carotid arterial stiffness estimated by ultrasonic wall tracking

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Interpretation and actionability of genetic variants in cardiomyopathies: a position statement from the European Society of Cardiology Council on cardiovascular genomics

This document describes the contribution of clinical criteria to the interpretation of genetic variants using heritable Mendelian cardiomyopathies as an example. The aim is to assist cardiologists in defining the clinical contribution to a genetic diagnosis and the interpretation of molecular genetic reports. The identification of a genetic variant of unknown or uncertain significance is a limitation of genetic testing, but current guidelines for the interpretation of genetic variants include essential contributions from clinical family screening that can establish a de novo assignment of the variant or its segregation with the phenotype in the family. A partnership between clinicians and patients helps to solve major uncertainties and provides reliable and clinically actionable information

Accessibility and valorisation of historical universities through digital inclusive solutions: the case study of the University of Pavia (Italy)

The University of Pavia, established in 1361, is well known for its historical and cultural importance, also reflected in the value of its architectural heritage. It includes several ancient structures, most of which are located in the city centre. The Palazzo Centrale is the main building: its architectural complexity is due to its big dimensions and composite configuration, the result of an expansion process over several centuries. Moreover, it is one of the rare examples of “passing architecture” allowing people to cross the building from the cardo of the Roman grid of Pavia, Corso Strada Nuova, towards the eastern part of the city centre. For these reasons, Palazzo Centrale presents several difficulties of accessibility and orientation for students, visiting academics and cultural tourists, but most of all for people with blindness or low vision. To tackle this problem, the research team is developing a pilot project in collaboration with a specialised NGO for the installation of vocal aids helping the orientation through selected paths. The project is aimed at providing a smartphone APP able to intercept the signals emitted by small e-beacons and receive voice information enabling users to move easily and independently through a selected accessible path. The vocal aids will use the architectural elements to characterize and describe the space, underlining not only the obstacles to be avoided but also the points of interest for historical, architectural, and academic reasons. Once tested, this solution could be widespread also in other University buildings, creating more accessible, inclusive, and thus sustainable environments for students and tourists in compliance with international standards

Common presentation of rare diseases: Aortic aneurysms & valves

The concept "common presentation of rare diseases" implies that rare diseases are masked by common phenotypic manifestations. This concept applies to both aneurysmal and valvular diseases that can be syndromic and non-syndromic. Syndromic disorders include genetic connective tissue diseases and chromosomal disorders that are diagnosed independently from the aneurysm or valve disease. Non-syndromic diseases, on the other hand, are defined by the presence of aneurysm or valve disease or both. The reasons for suspecting these rare diseases include young age, the absence of risk factors, a positive family history for aortic or valvular disease/event, and extra-cardiovascular traits for syndromes. The probands should receive genetic counseling, genetic testing [single gene in case of precise phenotyping addressing the gene to be tested, or multigene panels, in case of diseases with genetic heterogeneity], post-test counseling, clinical family screening and cascade genetic testing in relatives after the identification of a causative mutation. Segregation studies are essential in case of novel mutations, in particular non-truncation predicting variants. Clinical family screening of syndromic diseases is facilitated by the evaluation of non-cardiovascular traits; this supports early diagnosis and geno-phenotype correlation. Vice versa, family screening studies in non-syndromic aneurysmal and valvular diseases exclusively relies on CV imaging screening of relatives. In this context, conditions such as BAV and related aortopathy are easy to diagnose because BAV is present at birth while aortopathy usually develops during the life course

Potential Short-Term Air Pollution Effects on Rheumatoid Arthritis Activity in Metropolitan Areas in the North of Italy: A Cross-Sectional Study

Rheumatoid arthritis (RA) flare is related to increased joint damage, disability, and healthcare use. The impact of short-term air pollution exposure on RA disease activity is still a matter of debate. In this cross-sectional study, we investigated whether short-term exposure to particulate matter (PM)10, PM2.5, nitrogen dioxide (NO2), and ozone (O3) affected RA disease activity (DAS28 and SDAI) in 422 consecutive RA residents in Lombardy, North of Italy. Air pollutant concentrations, estimated by Regional Environmental Protection Agency (Lombardy—Italy) at the municipality level, were used to assign short-term exposure from the day of enrolment, back to seven days. Some significant negative associations emerged between RA disease activity, PM10, and NO2, whereas some positive associations were observed for O3. Patients were also stratified according to their ongoing Disease-Modifying anti-Rheumatic Drugs (DMARDs) treatment: no DMARDs (n = 25), conventional synthetic DMARDs (n = 108), and biological or targeted synthetic DMARDs (n = 289). Therapy interaction seemed partially able to influence the relationship between short-term air pollution exposure and RA disease activity (PM2.5 levels and DAS28 at the day of the visit-O3 levels and disease activity scores for the seven days before the evaluation). According to our results, the impact of short-term air pollution exposure (seven days) minimally impacts disease activity. Moreover, our study suggests therapy could alter the response to environmental factors. Further evidence is needed to elucidate determinants of RA flare and its management