RESUMO
BACKGROUND: The main contribution of this article is establishing a set of behaviors and successful actions experimenting the Ipacs' (Institutional & Public Coaching Services) methodology on implementation of the National Recovery Plan (NRP), approved in Italy in 2021 to overcome the socio-economic impact of the pandemic. This research is aimed at pointing out emotional intelligence (EI) behaviors related to the activities of the NRP with respect to the National Health System (NHS). PARTICIPANTS AND PROCEDURE: Fifty-six professionals were provided with an integrated pathway with coaching, participative art and mentoring from January to June 2022. A "core set" of 5 soft skills - communication, result orientation, teamwork, networking, and emotional intelligence - was measured before and after an integrated coaching pathway. Each soft skill related to the following three systemic objectives through pre-defined, related activities: 1) defining and introducing new roles in the health community houses; 2) implementing a new systemic communication in oncology; 3) facilitating the management of chronicity through a new IT platform. We observed that the Giunti test (Org-EIQ) and Ipacs' test enlighten the same emotional intelligence indicators of behaviors considered by the investigated coaching integrated pathway. RESULTS: Forty-eight percent of them increased in all 5 core skills. Results were measured at least in one of the two tests. These results were possible thanks to the changes in abilities of self- introspection, in communicating and sharing common goals, to achieve high standard results in conditions of uncertainty, to understand non-verbal feedback and give feedback. CONCLUSIONS: Emotional intelligence acted as a meta skill to pursue a "new model of man" with a new self-schema, self-image and set of behaviors.
RESUMO
Mutational analysis of the IDUA gene was performed in a cohort of 102 European patients with mucopolysaccharidosis type I. A total of 54 distinct mutant IDUA alleles were identified, 34 of which were novel including 12 missense mutations, 2 nonsense mutations, 12 splicing mutations, 5 micro-deletions, 1 micro-duplication 1 translational initiation site mutation, and 1 'no-stop' change (p.X654RextX62). Evidence for the pathological significance of all novel mutations identified was sought by means of a range of methodological approaches, including the assessment of evolutionary conservation, RT-PCR/in vitro splicing analysis, MutPred analysis and visual inspection of the 3D-model of the IDUA protein. Taken together, these data not only demonstrate the remarkable mutational heterogeneity characterizing type 1 mucopolysaccharidosis but also illustrate our increasing ability to make deductions pertaining to the genotype-phenotype relationship in disorders manifesting a high degree of allelic heterogeneity.