Sviluppo del controllo della forma del plasma per l'esperimento JET

Dottorato di ricerca in ingegneria informatica e elettronica industriale. A.a. 1993-94. Coordinatore L. Malesani. Tutore D. CiscatoConsiglio Nazionale delle Ricerche - Biblioteca Centrale - P.le Aldo Moro, 7, Rome; Biblioteca Nazionale Centrale - P.za Cavalleggeri, 1, Florence / CNR - Consiglio Nazionale delle RichercheSIGLEITItal

Electric System Vulnerabilities: the Crucial Role of Information & Communication Technologies in Recent Blackouts

Vulnerability of the electrical infrastructure is growing due to liberalisation, growing demand, transactions escalation, resulting in an infrastructure that is more complex to manage. This was illustrated by major recent blackouts over Europe and North America, which have similar root causes in the inadequacies of current power system controls. Both risk assessment methodologies and real-time controls need substantial revision to address increasing vulnerabilities and to cope at the same time with a new map of jurisdictional responsibilities, cross-border procedures and technological innovation.JRC.G.6-Sensors, radar technologies and cybersecurit

A 16q deletion involving FOXF1 enhancer is associated to pulmonary capillary hemangiomatosis

BACKGROUND: Pulmonary capillary hemangiomatosis (PCH) is an uncommon pulmonary disorder, with variable clinical features depending on which lung structure is affected, and it is usually linked to pulmonary arterial hypertension. Congenital PCH has been very rarely described and, so far, the only causative gene identified is EIF2AK4, which encodes for a translation initiation factor. However, not all PCH cases might carry a mutation in this gene. CASE PRESENTATION: We report the clinical and cytogenetic characterization of a patient (male, newborn, first child of healthy non-consanguineous parents) died after three days of life with severe neonatal pulmonary hypertension, due to diffuse capillary hemangiomatosis diagnosed post mortem. Conventional karyotyping, Microarray-Based Comparative Genomic Hydridization (CGHa) and quantitative PCR were performed. CGHa revealed a heterozygous chromosome 16q23.3q24.1 interstitial deletion, spanning about 2.6 Mb and involving a FOXF1 gene enhancer. Quantitative PCR showed that the proband’s deletion was de novo. Microsatellite analysis demonstrate that the deletion occurred in the maternal chromosome 16. CONCLUSION: FOXF1 loss of function mutation have been so far identified in alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV), a lung disease different from PCH. Our data suggest the hypothesis that disruption of the FOXF1 gene enhancer could be a genetic determinant of PCH. Moreover, our findings support the idea that FOXF1 is a paternally imprinted gene. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s12881-015-0241-7) contains supplementary material, which is available to authorized users

Additional file 1: Table S1. of A 16q deletion involving FOXF1 enhancer is associated to pulmonary capillary hemangiomatosis

Genes involved in our PCH patient deletion. (DOCX 18 kb