Paesaggi della memoria e dell’innovazione. Ri-abitare i paesaggi della riforma agraria foggiana

In the firsts decades of the last century, the plain of Foggia was invested by an important intervention of landed property transformation that, on the one hand proposed a significant land reclamation of the Tavoliere delle Puglie and on the other hand, an intense urban activity for the construction of new rural settlements: the suburbs of the Foggia city. This settlement and development policy for the rural centers still characterizes the agrarian landscape in the plain of Foggia today, where it is possible to find vast public properties: large estates, water networks, scattered dwellings, complete suburbs and evocative functionalist architectures. The project proposes a strategy to give value to the local rural landscape and its immense public estate, generating new forms of development that could answer the needs of a “new rurban society”, respecting the identity features of the agrarian reform landscape

Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe.

Since 72% of rare diseases are genetic in origin and mostly paediatrics, genetic newborn screening represents a diagnostic "window of opportunity". Therefore, many gNBS initiatives started in different European countries. Screen4Care is a research project, which resulted of a joint effort between the European Union Commission and the European Federation of Pharmaceutical Industries and Associations. It focuses on genetic newborn screening and artificial intelligence-based tools which will be applied to a large European population of about 25.000 infants. The neonatal screening strategy will be based on targeted sequencing, while whole genome sequencing will be offered to all enrolled infants who may show early symptoms but have resulted negative at the targeted sequencing-based newborn screening. We will leverage artificial intelligence-based algorithms to identify patients using Electronic Health Records (EHR) and to build a repository "symptom checkers" for patients and healthcare providers. S4C will design an equitable, ethical, and sustainable framework for genetic newborn screening and new digital tools, corroborated by a large workout where legal, ethical, and social complexities will be addressed with the intent of making the framework highly and flexibly translatable into the diverse European health systems

Spontaneous head-movements improve sound localization in aging adults with hearing loss

International audienceMoving the head while a sound is playing improves its localization in human listeners, in children and adults, with or without hearing problems. It remains to be ascertained if this benefit can also extend to aging adults with hearing-loss, a population in which spatial hearing difficulties are often documented and intervention solutions are scant. Here we examined performance of elderly adults (61–82 years old) with symmetrical or asymmetrical age-related hearing-loss, while they localized sounds with their head fixed or free to move. Using motion-tracking in combination with free-field sound delivery in visual virtual reality, we tested participants in two auditory spatial tasks: front-back discrimination and 3D sound localization in front space. Front-back discrimination was easier for participants with symmetrical compared to asymmetrical hearing-loss, yet both groups reduced their front-back errors when head-movements were allowed. In 3D sound localization, free head-movements reduced errors in the horizontal dimension and in a composite measure that computed errors in 3D space. Errors in 3D space improved for participants with asymmetrical hearing-impairment when the head was free to move. These preliminary findings extend to aging adults with hearing-loss the literature on the advantage of head-movements on sound localization, and suggest that the disparity of auditory cues at the two ears can modulate this benefit. These results point to the possibility of taking advantage of self-regulation strategies and active behavior when promoting spatial hearing skills

The impact of a visual spatial frame on real sound-source localization in virtual reality

International audienceStudies on audiovisual interactions in sound localization have primarily focused on the relations between the spatial position of sounds and their perceived visual source, as in the famous ventriloquist effect. Much less work has examined the effects on sound localization of seeing aspects of the visual environment. In this study, we took advantage of an innovative method for the study of spatial hearing-based on real sounds, virtual reality and real-time kinematic tracking-to examine the impact of a minimal visual spatial frame on sound localization. We tested sound localization in normal hearing participants (N = 36) in two visual conditions: a uniform gray scene and a simple visual environment comprising only a grid. In both cases, no visual cues about the sound sources were provided. During and after sound emission, participants were free to move their head and eyes without restriction. We found that the presence of a visual spatial frame improved hand-pointing in elevation. In addition, it determined faster first-gaze movements to sounds. Our findings show that sound localization benefits from the presence of a minimal visual spatial frame and confirm the importance of combining kinematic tracking and virtual reality when aiming to reveal the multisensory and motor contributions to spatial-hearing abilities

Functional Characterization of Two Novel Mutations in SCN5A Associated with Brugada Syndrome Identified in Italian Patients

Background. Brugada syndrome (BrS) is an autosomal dominantly inherited cardiac disease characterized by “coved type” ST-segment elevation in the right precordial leads, high susceptibility to ventricular arrhythmia and a family history of sudden cardiac death. The SCN5A gene, encoding for the cardiac voltage-gated sodium channel Nav1.5, accounts for ~20–30% of BrS cases and is considered clinically relevant. Methods. Here, we describe the clinical findings of two Italian families affected by BrS and provide the functional characterization of two novel SCN5A mutations, the missense variant Pro1310Leu and the in-frame insertion Gly1687_Ile1688insGlyArg. Results. Despite being clinically different, both patients have a family history of sudden cardiac death and had history of arrhythmic events. The Pro1310Leu mutation significantly reduced peak sodium current density without affecting channel membrane localization. Changes in the gating properties of expressed Pro1310Leu channel likely account for the loss-of-function phenotype. On the other hand, Gly1687_Ile1688insGlyArg channel, identified in a female patient, yielded a nearly undetectable sodium current. Following mexiletine incubation, the Gly1687_Ile1688insGlyArg channel showed detectable, albeit very small, currents and biophysical properties similar to those of the Nav1.5 wild-type channel. Conclusions. Overall, our results suggest that the degree of loss-of-function shown by the two Nav1.5 mutant channels correlates with the aggressive clinical phenotype of the two probands. This genotype-phenotype correlation is fundamental to set out appropriate therapeutical intervention

SCN5A mutation is associated with a higher Shanghai Score in patients with type 1 Brugada ECG pattern

Aims Brugada syndrome (BrS) is an inherited arrhythmic disease characterized by a coved ST-segment elevation in the right precordial electrocardiogram leads (type 1 ECG pattern) and is associated with a risk of malignant ventricular arrhythmias and sudden cardiac death. In order to assess the predictive value of the Shanghai Score System for the presence of a SCN5A mutation in clinical practice, we studied a cohort of 125 patients with spontaneous or fever/drug-induced BrS type 1 ECG pattern, variably associated with symptoms and a positive family history.Methods The Shanghai Score System items were collected for each patient and PR and QRS complex intervals were measured. Patients were genotyped through a next-generation sequencing (NGS) custom panel for the presence of SCN5A mutations and the common SCN5A polymorphism (H558R).Results The total Shanghai Score was higher in SCN5A+ patients than in SCN5A- patients. The 81% of SCN5A+ patients and the 100% of patients with a SCN5A truncating variant exhibit a spontaneous type 1 ECG pattern. A significant increase in PR (P = 0.006) and QRS (P = 0.02) was detected in the SCN5A+ group. The presence of the common H558R polymorphism did not significantly correlate with any of the items of the Shanghai Score, nor with the total score of the system.Conclusion Data from our study suggest the usefulness of Shanghai Score collection in clinical practice in order to maximize genetic test appropriateness. Our data further highlight SCN5A mutations as a cause of conduction impairment in BrS patients

Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience

Abstract Background The development of e-health technologies for teleconsultation and exchange of knowledge is one of the core purposes of European Reference Networks (ERNs), including the ERN EURO-NMD for rare neuromuscular diseases. Within ERNs, the Clinical Patient Management System (CPMS) is a web-based platform that seeks to boost active collaboration within and across the network, implementing data sharing. Through CPMS, it is possible to both discuss patient cases and to make patients’ data available for registries and databases in a secure way. In this view, CPMS may be considered a sort of a temporary storage for patients’ data and an effective tool for data sharing; it facilitates specialists’ consultation since rare diseases (RDs) require multidisciplinary skills, specific, and outstanding clinical experience. Following European Union (EU) recommendation, and to promote the use of CPMS platform among EURO-NMD members, a twelve-month pilot project was set up to train the 15 Italian Health Care Providers (HCPs). In this paper, we report the structure, methods, and results of the teaching course, showing that tailored, ERN-oriented, training can significantly enhance the profitable use of the CPMS. Results Throughout the training course, 45 professionals learned how to use the many features of the CPMS, eventually opening 98 panels of discussion—amounting to 82% of the total panels included in the EURO-NMD. Since clinical, genetic, diagnostic, and therapeutic data of patients can be securely stored within the platform, we also highlight the importance of this platform as an effective tool to discuss and share clinical cases, in order to ease both case solving and data storing. Conclusions In this paper, we discuss how similar course could help implementing the use of the platform, highlighting strengths and weaknesses of e-health for ERNs. The expected result is the creation of a “map” of neuromuscular patients across Europe that might be improved by a wider use of CPMS