La didattica aumentata digitalmente: studio qualitativo sulla percezione di infermieri e ostetriche del corso di Laurea magistrale durante la pandemia SARS-CoV-2 in Italia

Background. The SARS-CoV-2 pandemic has necessitated a rapid transition to digitally augmented education, generating a phenomenon that is unprecedented in the history of university education of healthcare professionals. The purpose of this study is to understand the effects of online teaching on the learning of students of the Master's Degree, to collect the significant elements of their experience and stimulate reflection on teaching practices. Objective. To describe perceptions and experiences of nurses and midwives in the Master's degree on digitally augmented learning during the SARS-CoV-2 pandemic. Method. A descriptive qualitative study was performed on a proactive sample of 34 nurse practitioners, pediatric nurses and midwives. The data was collected in January-February 2021 through an online form, built ad hoc. The answers were analyzed with deductive content analysis. Results. 4 main categories emerge from the analysis of the texts: educational impact, time management, disadvantages of online teaching, distance learning-teaching. The results partly confirm what is reported in the literature about virtual learning, with better time management and the usefulness of video recordings. However, learning is strongly conditioned by the difficulties of interaction and communication between the students and between the teachers and the students. Conclusion. The digitally augmented learning allowed the continuation of the training course of health professionals engaged during the SARS-CoV-2 emergency. However, distance learning if used exclusively for a long time is a limited tool as it modifies the didactic processes preventing the development of meaningful relationships, dialogue and educational relationships which are important and essential outcomes in the master's course. Key words: Digitally augmented learning, students’ experiences, nurses/midwives, SARS-CoV-2, Qualitative study.Introduzione. La pandemia da SARS-CoV-2 ha reso necessaria una rapida transizione alla didattica aumentata digitalmente, generando un fenomeno che non vede precedenti nella storia della formazione universitaria dei professionisti sanitari. La finalità del presente studio è di comprendere gli effetti della didattica online sugli apprendimenti degli studenti del corso di Laurea magistrale per raccogliere gli elementi significativi della loro esperienza e stimolare la riflessione sulle pratiche didattiche. Obiettivo. Descrivere le percezioni e i vissuti dei professionisti in formazione magistrale circa la didattica aumentata digitalmente durante la pandemia da SARS-CoV-2. Metodi. È stato condotto uno studio qualitativo descrittivo su un campione propositivo di 34 professionisti infermieri, infermieri pediatrici e ostetriche. I dati sono stati raccolti nel periodo gennaio-febbraio 2021 attraverso un modulo online, costruito ad hoc. Le risposte sono state analizzate con la content analysis deduttiva. Risultati. Dall’analisi dei testi emergono 4 categorie principali: impatto educativo, gestione del tempo, svantaggi della didattica online, apprendimento-insegnamento a distanza. I risultati confermano quanto riportato in letteratura, una migliore gestione del tempo e l’utilità delle videoregistrazioni. L’apprendimento è però fortemente condizionato dalle difficoltà di interazione e di comunicazione tra studenti e tra docenti e studenti. Conclusioni. La didattica aumentata digitalmente ha consentito di continuare il percorso formativo dei professionisti sanitari impegnati durante l’emergenza da SARS-CoV-2. Tuttavia, la formazione a distanza se utilizzata per lungo tempo in modo esclusivo è uno strumento limitato poichè modifica i processi didattici impedendo di sviluppare relazioni significative, il dialogo e la relazione educativa che nel percorso magistrale sono importanti e imprescindibili outcomes. Parole chiave. Didattica Aumentata Digitalmente, esperienza degli studenti, infermieri/ostetriche, SARS-CoV-2, Studio qualitativo

The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study

Dystrophinopathies are inherited diseases caused by mutations in the dystrophin (DMD) gene for which testing is mandatory for genetic diagnosis, reproductive choices and eligibility for personalized trials. We genotyped the DMD gene in our Italian cohort of 1902 patients (BMD n = 740, 39%; DMD n =1162, 61%) within a nationwide study involving 11 diagnostic centers in a 10-year window (2008-2017). In DMD patients, we found deletions in 57%, duplications in 11% and small mutations in 32%. In BMD, we found deletions in 78%, duplications in 9% and small mutations in 13%. In BMD, there are a higher number of deletions, and small mutations are more frequent than duplications. Among small mutations that are generally frequent in both phenotypes, 44% of DMD and 36% of BMD are nonsense, thus, eligible for stop codon read-through therapy; 63% of all out-of-frame deletions are eligible for single exon skipping. Patients were also assigned to Italian regions and showed interesting regional differences in mutation distribution. The full genetic characterization in this large, nationwide cohort has allowed us to draw several correlations between DMD/BMD genotype landscapes and mutation frequency, mutation types, mutation locations along the gene, exon/intron architecture, and relevant protein domain, with effects on population genetic characteristics and new personalized therapies