SAM68 is a physiological regulator of SMN2 splicing in spinal muscular atrophy

Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by loss of motor neurons in patients with null mutations in the SMN1 gene. The almost identical SMN2 gene is unable to compensate for this deficiency because of the skipping of exon 7 during pre-messenger RNA (mRNA) processing. Although several splicing factors can modulate SMN2 splicing in vitro, the physiological regulators of this disease-causing event are unknown. We found that knockout of the splicing factor SAM68 partially rescued body weight and viability of SMAΔ7 mice. Ablation of SAM68 function promoted SMN2 splicing and expression in SMAΔ7 mice, correlating with amelioration of SMA-related defects in motor neurons and skeletal muscles. Mechanistically, SAM68 binds to SMN2 pre-mRNA, favoring recruitment of the splicing repressor hnRNP A1 and interfering with that of U2AF65 at the 3' splice site of exon 7. These findings identify SAM68 as the first physiological regulator of SMN2 splicing in an SMA mouse model

A new inner tracker based on GEM detectors for the BES III experiment

A new inner tracker based on a cylindrical gas electron-multiplier detector is under development to replace the current inner drift chamber of the BES III spectrometer. The BES III experiment is carried out at the BEPC II e[Formula: see text]e[Formula: see text] collider in Beijing at center-of-mass energies in the tau-charm region with a design luminosity of 1.0 [Formula: see text] 10[Formula: see text] cm[Formula: see text]s[Formula: see text]. The new inner tracker consists of three cylindrical layers of triple GEM surrounding the interaction point, covering 93% of solid angle. To fulfill physics requirements, a spatial resolution of 130 μm must be achieved. Both planar and cylindrical prototypes have been built and tested. A custom ASIC using UMC 110-nm technology has been designed to provide charge and time measurements—the first prototype is in testing. Notable and innovative aspects of the new inner tracker and the performance of the detector prototypes and readout ASIC are reported here

Performance of the micro-TPC Reconstruction for GEM Detectors at High Rate

Gas detectors are one of the pillars of the research in fundamental physics. Since many years, a new concept of detectors, the Micro Pattern Gas Detectors, allows to overcome many of the problems of other types of commonly used detectors, as drift chambers and microstrips, reducing the discharge rate and increasing the radiation tolerance. Among these, one of the most commonly used is the Gas Electron Multiplier. Commonly deployed as fast timing detectors and triggers, due to their fast response, high rate capability and high radiation hardness, they can also be used as trackers. The center of gravity readout technique allows to overcome the limit of the digital pads, whose spatial resolution is constrained by the pitch size. The presence of a high external magnetic field can distort the electronic cloud and affect the spatial resolution. The micro-TPC reconstruction method allows to reconstruct the three dimensional particle position as in a traditional Time Projection Chamber, but within a drift gap of a few millimeters. This method brings these detectors into a new perspective for what concerns the spatial resolution in strong magnetic field. In this report, the basis of this new technique will be shown and it will be compared to the traditional center of gravity. The results of a series of test beam performed with 10 x 10 cm2 planar prototypes in magnetic field will also be presented. This is one of the first implementations of this technique for GEM detectors in magnetic field and allows to reach unprecedented performance for gas detectors, up to a limit of 120 micron at 1T, one of the world's best results for MPGDs in strong magnetic field. The micro-TPC reconstruction has been recently tested at very high rates in a test beam at the MAMI facility; preliminary results of the test will be presented.Comment: Proceedings for "2017 IEEE Nuclear Science Symposium and Medical Imaging Conference (NSS/MIC)" (IEEE17) Conference, 21-28 October 2017, Atlanga, Georgia, USA (prepared for submission to IEEE Conference Record

Il Futuro della Cybersecurity in Italia: Ambiti Progettuali Strategici

Il presente volume nasce come continuazione del precedente, con l’obiettivo di delineare un insieme di ambiti progettuali e di azioni che la comunità nazionale della ricerca ritiene essenziali a complemento e a supporto di quelli previsti nel DPCM Gentiloni in materia di sicurezza cibernetica, pubblicato nel febbraio del 2017. La lettura non richiede particolari conoscenze tecniche; il testo è fruibile da chiunque utilizzi strumenti informatici o navighi in rete. Nel volume vengono considerati molteplici aspetti della cybersecurity, che vanno dalla definizione di infrastrutture e centri necessari a organizzare la difesa alle azioni e alle tecnologie da sviluppare per essere protetti al meglio, dall’individuazione delle principali tecnologie da difendere alla proposta di un insieme di azioni orizzontali per la formazione, la sensibilizzazione e la gestione dei rischi. Gli ambiti progettuali e le azioni, che noi speriamo possano svilupparsi nei prossimi anni in Italia, sono poi accompagnate da una serie di raccomandazioni agli organi preposti per affrontare al meglio, e da Paese consapevole, la sfida della trasformazione digitale. Le raccomandazioni non intendono essere esaustive, ma vanno a toccare dei punti che riteniamo essenziali per una corretta implementazione di una politica di sicurezza cibernetica a livello nazionale. Politica che, per sua natura, dovrà necessariamente essere dinamica e in continua evoluzione in base ai cambiamenti tecnologici, normativi, sociali e geopolitici. All’interno del volume, sono riportati dei riquadri con sfondo violetto o grigio; i primi sono usati nel capitolo introduttivo e nelle conclusioni per mettere in evidenza alcuni concetti ritenuti importanti, i secondi sono usati negli altri capitoli per spiegare il significato di alcuni termini tecnici comunemente utilizzati dagli addetti ai lavori. In conclusione, ringraziamo tutti i colleghi che hanno contribuito a questo volume: un gruppo di oltre 120 ricercatori, provenienti da circa 40 tra Enti di Ricerca e Università, unico per numerosità ed eccellenza, che rappresenta il meglio della ricerca in Italia nel settore della cybersecurity. Un grazie speciale va a Gabriella Caramagno e ad Angela Miola che hanno contribuito a tutte le fasi di produzione del libro. Tra i ringraziamenti ci fa piacere aggiungere il supporto ottenuto dai partecipanti al progetto FILIERASICURA

COORDINATORE della ricerca finanziata. "Problematiche medico sociali e medico legali inerenti a fenomeni di natura violenta nella collettività" Cod. Id. C26F043113

Responsabile del progetto e del gruppo di ricerc

Perinatal Testicular Torsion and medicolegal considerations

Perinatal testicular torsion (PTT) is a very complex condition because of rarity of presentation and diagnostic and therapeutic difficulties. In presence of perinatal testicular torsion, the involvement of contralateral testis can be present also in absence of other indications which suggest the bilateral involvement; therefore, occurrences supported by literature do not exclude the use of surgery to avoid the risk of omitted or delayed diagnosis. The data on possible recovery of these testicles are not satisfactory, and treatment consists of an observational approach ("wait-and-see") or an interventional approach. The hypothesis of randomized clinical trials seems impracticable because of rarity of disease. The authors present a case of PTT, analyzing injuries due to clinical and surgical management of these patients, according to medicolegal profile. The delayed diagnosis and the choice of an incorrect therapeutic approach can compromise the position of healthcare professionals, defective in terms of skill, prudence and diligence. Endocrine insufficiency is an unfortunate event. The analysis of literature seems to support, because of high risk, a surgical approach aimed not only at resolution of unilateral pathology or prevention of a relapse, but also at prevention of contralateral testicular torsion