La malattia di Charcot-Marie-Tooth (CMT) è la neuropatia periferica ereditaria più frequentemente osservata, con una prevalenza di circa 1 su 2.500 persone. È un gruppo di patologie geneticamente eterogeneo, con mutazioni in oltre 100 geni, che colpisce sia i nervi motori sia quelli sensoriali. La mutazione T124M nel gene MPZ dà origine alla CMT2J, un sottotipo particolarmente interessante con una particolare prevalenza nell’Italia settentrionale. Sebbene MPZ sia una proteina esclusivamente e...
Una fonte affidabile di β cellule è essenziale per l'avanzamento della terapia cellulare nel diabete di tipo 1. Le cellule staminali pluripotenti indotte possono differenziarsi in β cellule produttrici di insulina, imitando efficacemente lo sviluppo pancreatico in vitro. Mentre la senescenza cellulare supporta la formazione di β cellule durante l'embriogenesi, la loro senescenza cellulare legata all'invecchiamento compromette il rilevamento del glucosio e la secrezione di insulina. Tuttavia, ...
Association between genotype and phenotype in mitral valve prolapse patients and their impact on arrhythmic outcomes
Introduction. Cognitive impairment is common in people with MS (pwMS) and significantly impacts functional independence. The Symbol-Digit Modalities Test (SDMT) is widely used to assess cognitive deficits in pwMS. Electronic adaptations of the SDMT (eSDMT) can enable remote monitoring and capture more detailed performance metrics, compared to pen-and-paper tests. This study details the development and validation of a custom-made eSDMT intended to enable long-term remote cognitive monitoring o...
A great proportion of People with Multiple Sclerosis (PwMS) suffers from Cognitive Impairment (CI), which greatly diminishes the quality of life of those affected. Pharmacological treatments for CI in PwMS showed limited efficacy, and behaviourally-based interventions still remain the preferred care option. These typically involve in-clinic repeated one-on-one sessions with a therapist for a set period of time. This has been seen to be both costly and unfeasible for some PwMS. Telerehabilitat...
This thesis introduces the concept of Future-Maker Generations (FMGs), a novel form of plural subject described as an ethical and political community, globally disseminated and axiologically oriented towards the defence of plurality of all forms of life. The thesis aims to describe and analyse the emerging of FMGs from Future-Maker Personalities (FMPs), individuals united by a shared set of values oriented towards human plurality, global solidarity, human rights, and environmental protection....
The COVID-19 crisis and the development of the first approved mRNA vaccine have highlighted the potential of RNA-based therapeutic strategies. Mutated variant strains of SARS-CoV-2 that evade immunity to previous infection or vaccination are continuously emerging, resulting in new outbreaks. Thus, there is a clear and urgent need for alternative approaches that are active against multiple variants of concern. Antisense oligonucleotides (ASOs) represent a new and promising class of RNA-targete...
Peripartum depression (PPD) results in physical, emotional, and behavioral changes during pregnancy and postpartum that occur in roughly 20% of women, yet COVID-19 may have increased the prevalence of PPD. Furthermore, during this period, women may be vulnerable to the development of cognitive deficits. The biological causes of PPD and cognitive decline are still unclear. These issues may arise due to brain structural and functional alterations; however, results are inconclusive. Moreover, dy...
During my PhD, I focused on the study of the MRI substrates of cognition in pediatric-onset (PO) multiple sclerosis (MS) patients and on the validation of a novel paper-pencil cognitive test, the Consecutive-letter Substitution Test (CST), to assess information processing speed (IPS).
By applying unsupervised machine learning, we identified three cognitive phenotypes in pediatric MS patients: normal functioning, mild verbal memory and semantic fluency deficits, and global impairment, each as...
In this dissertation, my aim is to analyse the reasons and causes behind the spread of disinformation. In particular, my main interest is in what I will refer to as “scientific disinformation”, namely the kind of disinformation that regards scientific issues and topics, with a particular focus on climate change. The thesis is divided into five chapters, each with a specific purpose. The first chapter is dedicated to the definition of disinformation. I review the different definitions of disin...