Archivio della ricerca della Scuola Superiore Sant'Anna
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Arrhythmic Risk Stratification and Sudden Cardiac Death Prevention in Duchenne Muscular Dystrophy: A Critical Appraisal
No full textDuchenne muscular dystrophy (DMD) is a genetic progressive neuromuscular disorder characterized by early-onset proximal muscle weakness and significant long-term pulmonary and cardiac involvement. Due to the early pharmacological treatments and the wider adoption of non-invasive ventilation, life expectancy has significantly increased in recent years, highlighting the relevance of DMD-related cardiomyopathy and fatal arrhythmias, especially in the late stage of the disease. Current guideline-derived evaluation of sudden cardiac death (SCD) in DMD lacks accuracy, leading to inadequate arrhythmic risk stratification and jeopardized SCD prevention strategies. This review aims to outline these critical issues, proposing an integrative approach encompassing manifold tools such as an imaging-derived systematic and comprehensive evaluation (speckle-tracking echocardiography and magnetic resonance imaging), the electrophysiological study, the 3-dimensional electroanatomic mapping, and a multidimensional clinical examination. This approach might lead to more personalized management along with an effective arrhythmia-prevention strategy aiming to balance clinical care goals, patient expectations, and ethical considerations
Machine Learning-Based Models Applied for Improving Electric Steel Works' Sustainability
No full textSteelmaking by electric steelworks is expected to increase due to their pivotal role in the steel sector transition towards C-lean processes. Therefore, several efforts are made to increase their sustainability. The European project ALCHIMIA provides an exemplar investigation aimed at decreasing energy and resource consumption in electric steelworks. The application of a decision support system is envisaged based on federated learning and advanced optimization algorithms to support operators in the selection of the best input material mix. The contribution focuses on the application of machine learning-based models computing the characteristics of scrap stock and estimating steel composition and temperature after secondary metallurgy
Enhancing Hand Dexterity Assessment Through Protocol Revision and Pilot Evaluation of the Virtual Eggs Test
No full textHand function assessment enables the therapist to select the proper rehabilitation therapy as well as to monitor the recovery progress. The Virtual Eggs Test (VET) stands out from the other tests for hand dexterity evaluation since evaluates both gross and fine dexterity. This is achieved by integrating measures of accuracy and speed in transporting objects with increasing fragilities. A clinical trial to validate VET was carried out with a population of amputees and a small group of healthy participants, showing promising results. To improve the resolution of the test, here we propose a revised version of the execution protocol without extending the duration. The new version has been preliminary evaluated by seven healthy participants of different ages. The results of this pilot study support test-retest reliability for the original formulation of the Fine Dexterity Index, while suggesting for a revision of the Gross Dexterity Index
Multi-site investigation of gut microbiota in CDKL5 deficiency disorder mouse models: Targeting dysbiosis to improve neurological outcomes
Full text link: Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a rare neurodevelopmental disorder often associated with gastrointestinal (GI) issues and subclinical immune dysregulation, suggesting a link to the gut microbiota. We analyze the fecal microbiota composition in two CDKL5 knockout (KO) mouse models at postnatal days (P) 25, 32 (youth), and 70 (adulthood), revealing significant microbial imbalances, particularly during juvenile stages. To investigate the role of the intestinal microbiota in CDD and assess causality, we administer antibiotics, which lead to improved visual cortical responses and reduce hyperactivity. Additionally, microglia morphology changes, indicative of altered surveillance and activation states, are reversed. Strikingly, fecal transplantation from CDKL5 KO to wild-type (WT) recipient mice successfully transfers both visual response deficits and hyperactive behavior. These findings show that gut microbiota alterations contribute to the severity of neurological symptoms in CDD, shedding light on the interplay between microbiota, microglia, and neurodevelopmental outcomes
Enablers and Constraints of Environmental Sustainability Integration: A Structuration Perspective on Professional Sports Organizations
Full text linkIntegrating environmental sustainability (ES) into organizational strategies and operations remains a persistent challenge, particularly in fields where environmental concerns are not yet embedded within dominant institutional norms and standards of behavior. In such contexts, ES risks being overshadowed by economic and operational priorities, hindering meaningful organizational change toward sustainability. This study addresses this challenge by examining how ES is integrated within organizations operating in a field where it is still in the early stages of institutionalization—namely, the European football sector. Drawing on structuration theory, the research applies the notions of signification, legitimation, and domination as sensitizing devices to explore factors that enable or constrain organizations in gradually altering societal structures to embed environmental concerns into strategies and operations. Methodologically, the study draws on a multiple case study of four National Football Associations operating in Europe. By focusing on the football sector, the study contributes to a deeper understanding of how organizations respond to institutional pressures for ES in the absence of fully established norms, exercising agency to shape meanings, transform expectations of behavior, and mobilize power and resources to drive organizational change toward sustainability
Hybrid organisations and regional development: implementing change agency through place-based leadership
No full textThis study theorises hybrid organisations as change agents employing place-based leadership to promote regional development. By integrating the concepts of the trinity of change agency and agency–structure duality, we triangulate qualitative evidence on 38 change actions implemented by four hybrid organisations. We conceptualise three distinct transformative strategies contributing to regional development: guiding, realising and orchestrating change. This research bridges the literature on agency and hybrid organisations, offering a deeper understanding of how emerging organisational forms can drive place-based initiatives that transform social structures and address contemporary challenges
Simulation of +ydrogen 8sage in (lectric $rc)urnace for,ts 'ecarbonization
No full textElectric steelworks are spending relevant efforts to improve sustainability by confirming its fundamental role in the transition towards climate-neutral steel production. The substitution of fossil carbon with alternative carbon sources and the use of green hydrogen for heating purposes in electric arc furnaces are some of the investigated aspects in the GreenHeatEAF European project. In this paper, an electric steelworks flowsheet model is presented and simulations results concerning the effects of hydrogen use (alone or as a blend with natural gas) are discussed. The coupling with a PEM electrolyzer model allows computing the electric requirements in each analyzed case
