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Systematic Review
Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine
Jean-Francois Desaphya, Concetta Altamura, Savine Vicart and Bertrand Fontaine
Department of Biomedical Sciences and Human Oncology, School of Medicine, University of Bari Aldo Moro, Bari, Italy
Sorbonne Université, INSERM, Assistance Publique Hôpitaux de Paris, Centre de Recherche en Myologie-UMR 974, Reference center in neuro-muscular channelopathies, Institute of Myology, Hôpital Universitaire Pitié Salpêtrière, Paris, France
ABSTRACT ▾
Background: Skeletal muscle ion channelopathies include non-dystrophic myotonias (NDM), periodic paralyses (PP), con
genital myasthenic syndrome, and recently identified congenital myopathies. The treatment of these diseases is mainly
symptomatic, aimed at reducing muscle excitability in NDM or modifying triggers of attacks in PP.
Objective: This systematic review collected the evidences regarding effects of pharmacological treatment on muscle ion
channelopathies, focusing on the possible link between treatments and genetic background.
Methods: We searched databases for randomized clinical trials (RCT) and other human studies reporting pharmacological
treatments. Preclinical studies were considered to gain further information regarding mutation-dependent drug effects. All
steps were performed by two independent investigators, while two others critically reviewed the entire process.
Results: For NMD,RCTshowedtherapeuticbenefitsofmexiletine andlamotrigine, while other human studies suggest some
efficacy of various sodium channel blockers and of the carbonic anhydrase inhibitor (CAI) acetazolamide. Preclinical studies
suggest that mutations may alter sensitivity of the channel to sodium channel blockers in vitro, which has been translated
to humans in some cases. For hyperkalemic and hypokalemic PP, RCT showed efficacy of the CAI dichlorphenamide in
preventing paralysis. However, hypokalemic PP patients carrying sodium channel mutations may have fewer benefits from
CAI compared to those carrying calcium channel mutations. Few data are available for treatment of congenital myopathies.
Conclusions: These studies provided limited information about the response to treatments of individual mutations or groups
of mutations. A major effort is needed to perform human studies for designing a mutation-driven precision medicine in muscle ion channelopathies.
DIAGRAMMI E STATISTICHE
INNOVAZIONE E SALUTE
Science direct
Drug repurposing in skeletal muscle ion channelopathies
ABSTRACT ▾
Skeletal muscle ion channelopathies are rare genetic diseases mainly characterized by myotonia (muscle stiffness) or periodic paralysis (muscle weakness). Here, we reviewed the available therapeutic options in non-dystrophic myotonias (NDM) and periodic paralyses (PP), which consists essentially in drug repositioning to address stiffness or weakness attacks.
Empirical use followed by successful randomized clinical trials eventually led to the orphan drug designation and marketing authorization granting of mexiletine for NDM and dichlorphenamide for PP. Yet, these treatments neither consider the genetic cause of the diseases nor address the individual variability in drug response.
Thus, ongoing research aims at the identification of repurposed drugs alternative to mexiletine and dichlorphenamide to allow personalization of treatment.
This review highlights how drug repurposing may represent an efficient strategy in rare diseases, allowing reduction of drug development time and costs in a context in which the return on investment may be particularly challenging.
DIAGRAMMI E STATISTICHE
INNOVAZIONE E SALUTE
SUSTAINABILITY
Participatory Planning for the Drafting of a Regional Law on the Bioeconomy
Elvira Tarsitano¹²*, Simona Giordano³, Gianluigi de Gennaro⁴, Annalisa Turi⁵, Giovanni Ronco⁶, Lucia Parchitelli⁷
Sustainability 2023, 15(9), 7192; https://doi.org/10.3390/su15097192
Received: 23 February 2023 / Revised: 22 April 2023 / Accepted: 23 April 2023 / Published: 26 April 2023
(This article belongs to the Special Issue Prospects and Challenges of Bioeconomy Sustainability Assessment)
ABSTRACT ▾
In an increasingly complex global economic scenario, sustainability represents a fundamental compass aimed to guide actions of institutions and individuals. A nondissipative use of Earth’s resources is feasible through a common effort that reconsiders the actual development system according to the key principles of the bioeconomy. It is vital to start from local contexts to reach the global dimension by exploiting the opportunities available in each territory. Starting from these assumptions, the participatory process activated in the Apulia region has represented the first step towards an intervention strategy in the panorama of the bioeconomy, and has made it possible to increase the awareness of a development based on the adoption of bioeconomy models and, therefore, circular economy ones through an effective inclusion process. A process has given rise to a project allowing all involved actors to reflect on the double economy–environment system, to share good practices and promote the adoption of lifestyles and consumption styles more compatible with the principles of the bioeconomy and to elaborate a proposal for a participatory regional law for the bioeconomy in the Apulia region as an expression of the collaboration between different bodies and institutions (universities, Confindustria and the council of the Puglia region).
DIAGRAMMI E STATISTICHE
INNOVAZIONE E SALUTE
Telemedicina Applicata: il Caso di Studio "TeleMielo Lab"
Alessandro Massaro¹, Fabio Manca², Angelo Galiano¹, Assunta Melaccio³, Antonio Solimando³, Ottavio Di Cillo⁴, Giovanni Migliores⁵, Angelo Vacca³
ABSTRACT
Il progetto “TeleMieloLab”, in sperimentazione nella Regione Puglia, rappresenta un chiaro esempio di telemedicina applicata a processi di deospedalizzazione in ambito oncologico. Nello specifico, la piattaforma software progettuale consente di mettere in comunicazione la control room del Policlinico di Bari con i pazienti affetti da gammapatia monoclonale, sia MGUS (monoclonal component of undetermined significance) che mieloma multiplo, potendo controllare “a distanza” l’evoluzione della patologia, gestendo e pianificando allo stesso tempo gli esami ematochimici da effettuare nei laboratori di analisi aderenti al progetto.
Obiettivo primario del progetto è di ottimizzare i processi clinici e l’operato delle risorse umane, ab- battendo di conseguenza i costi ospedalieri, e conservando una “traccia digitale” del percorso diagnostico terapeutico assistenziale (PDTA) di ciascun paziente. Facendo “viaggiare i dati e non le persone”, è possibile dunque evitare spostamenti inutili dei pazienti, ottimizzando e velocizzando la diagnosi. In tale direzione, la piattaforma progettuale integra, mediante mobile APP, le procedure di controllo attivate dai medici di Medicina Generale e gestite dalla control room e dashboard grafiche che indicano il rischio circa lo stato di salute del paziente, e visualizzano in tempo reale i parametri fisiologici degli assistiti.
Gli algoritmi di intelligenza artificiale, analogamente alle reti neurali, supportano le analisi dei dati, aiutando il personale medico specializzato della control room nella formulazione della diagnosi e della prognosi. Essi infatti forniscono una predizione dei parametri di interesse clinico, mediante l’analisi dei dati storici dei pazienti, e sono in grado di auto-apprendere dagli stessi dati registrati. Il caso di studio “TelemieloLab” dimostra come sia possibile automa- tizzare i processi decisionali supportando l’operato dei medici ed ottimizzando i processi di assistenza “a distanza”. Il modello è attualmente in fase di valutazione per seguire, con la medesima piattaforma, altre patologie, quali ipertensione, malattie autoimmuni e immunodeficienze e malattie neoplastiche che richiedono controlli continui e PDTA specifici.
DIAGRAMMI E STATISTICHE
PALIMPSEST - Interreg Greece - Italy
“MUX ART” - Digital Urban Exhibition
ABSTRACT
Il Museo Urbano nell’ambito del Progetto: “PALIMPSEST – Post ALphabetical Interactive Museum using Participatory, Space-Embedded, Story-Telling” (Cooperation Programme Interreg V/A Greece –Italy 2014-2020) Bari – Il 30 Ottobre 2020, presso il Centro Polifunzionale Studenti, primo piano (Ex Palazzo Poste) – Università degli Studi di Bari Aldo Moro, in p.zza Cesare Battisti, a Bari, il Magnifico Rettore, Prof. Stefano Bronzini e il direttore dell’Accademia di Belle Arti, Prof. Giancarlo Chielli, nell’ambito del progetto “PALIMPSEST – Post ALphabetical Interactive Museum using Participatory, Space-Embedded, Story-Telling” (Cooperation Programme Interreg V/A Greece–Italy 2014-2020), è stato inaugurato il Museo Urbano, MUX ART – DIGITAL URBAN EXIBITION. PALIMPSEST vede come partner il Centro per l’Apprendimento Permanente dell’Università degli Studi di Bari Aldo Moro (www.uniba.it/centri/cap) e la Provincia di Lecce per l’Italia, la Facoltà di Belle Arti dell’Università di Ioánnina (Lead partner) e la Regione dell’Epiro, per la Grecia. Obiettivi del progetto sono quelli di sviluppare – attraverso tecnologie digitali – un’esperienza museale interattiva, facendo emergere strati dimenticati del passato delle città, e rivitalizzare gli spazi urbani per attrarre un turismo di qualità. Al fine della valorizzazione del patrimonio culturale, è stato ricreato, attraverso la mostra MUX ART, uno scorcio del centro storico della città di Bari, riproducendo artisticamente alcuni dettagli che appartengono agli spazi urbani cittadini, e facendoli rivivere attraverso installazioni digitali.
Sustainable Cities and Society
Innovative DSS for intelligent monitoring and urban square design approaches: A case of study
Alessandro Massaroᵃ, Giuseppe Birardiᵃ, Fabio Mancaᵇ, Claudia Marinᵇ, Vitangelo Birardiᵃ, Daniele Giannoneᵃ, Angelo Maurizio Galianoᵃ
ᵃ Dyrecta Lab s.r.l., Istituto di Ricerca MIUR, via Vescovo Simplicio 45, 70014 Conversano (BA).
ᵇ Dipartimento di Scienze della Formazione, Psicologia e Comunicazione, Università degli Studi di Bari Aldo Moro, Via Scipione Crisanzio, 42, 70122 Bari.
ABSTRACT
In this paper we proposed a new platform based on data processing suitable for urban square design optimization. The re-design of square in cities is important to make the urban squares livable especially for cities with high population density. Innovative solutions about green space design, computer vision and environmental sensing have been implemented, observing experimentally the inluence of the public space on people’s behaviour. Furthermore, the platform processes data about weather condition, objects detected by image processing algorithms, environmental pollution and occupancy patterns to perform correlation analysis. A Convolutional Neural Network (CNN) has been used to predict people occupancy over time, basing on a weather dataset. The platform implements a Decision Support System (DSS) aimed to read the data, and provide guidelines for urban square design optimization. The DSS is constructed by data modeling, data mining and multiple correspondence analysis (MCA) tools tailored on the speciic case of study. Experimental observations provide insights for a self-adaptive urban square design. Multiple correspondence analysis best its qualitative and quantitative data obtained from sensors, and highlights people’s behaviour in the urban square in correlation with different variables. After a complete overview of factors which can influence the livability of a square and economical/social models are presented different results about citizen behaviour interpretation in function of weather data and attitudes. The proposed framework can be potentially applied for a generic urban square.
DIAGRAMMI E STATISTICHE
Sustainable Cities and Society
A text data mining approach to the study of emotions triggered by new advertising formats during the COVID‑19 pandemic
Angela Maria D’Uggento¹ · Albino Biafora² · Fabio Manca³ · Claudia Marin³ · Massimo Bilancia⁴
ᵃ Dyrecta Lab s.r.l., Istituto di Ricerca MIUR, via Vescovo Simplicio 45, 70014 Conversano (BA).
ᵇ Dipartimento di Scienze della Formazione, Psicologia e Comunicazione, Università degli Studi di Bari Aldo Moro, Via Scipione Crisanzio, 42, 70122 Bari.
ABSTRACT
Under the influence of the health emergency triggered by the COVID-19 pandemic, many brands changed their communication strategy and included more or less explicit references to the principles of solidarity and fraternity in their TV commercials to boost the confidence and hope of Italian families during the lockdown. The traditional attitudes of the advertising format, which focused on product characteristics, were relegated to the background in order to reinforce the “brand image” through words, signs, hashtags and music that spread empathetic messages to all those who needed to regain hope and trust in a time of extreme emotional fragility. The objective of this paper is to identify the emotions and brand awareness during the lockdown using text mining techniques by measuring customer sentiment expressed on the Twitter social network. Our proposal starts from an unstructured corpus of 20,982 tweets processed with text data mining techniques to identify patterns and trends in people’s posts related to specific hashtags and TV ads produced during the COVID-19 pandemic. The innovations in the brand’s advertising among consumers seem to have triggered some sense of appreciation and gratitude, as well as a strong sense of belonging that was not present before, as the TV ads were perceived as a disruptive element in consumers’ tweets. Although this efect is clearly documented, in this paper we demonstrate its transitory nature, in the sense that the frequency of occurrence of terms associated with an emotional dimension peaks during the weeks of lockdown, and then gradually decreases.
DIAGRAMMI E STATISTICHE
