Sixth International Symposium Monitoring of Mediterranean Coastal Areas. Problems and Measurement Techniques : Livorno (Italy) September 28-29, 2016

The Sixth International Symposium Monitoring of Mediterranean Coastal Areas. Problems and Measurement Techniques (Livorno, Italy 28-29 September 2016) was organized by the CNR-IBIMET in collaboration with University Departments, the City of Livorno, the LEM Foundation, the Livorno Port Authority and CeSIA-Accademia dei Georgofili, with the patronage by Accademia Nazionale dei Lincei, the Tuscany Region and the Province of Livorno. The Symposium, that every two years addresses to Mediterranean scholars, was characterized by discourse of topics related to Mediterranean coastal areas and by the search for technical and instrumental solutions to problems related to: energy production in the coastal area, morphology and evolution of coastlines, flora and fauna of the littoral system, management and integrated coastal protection, coastline geography, human influence on coastal landscape. Il VI Simposio Internazionale Il Monitoraggio Costiero Mediterraneo: problematiche e tecniche di misura (Livorno 28-29 settembre 2016) \ue8 stato organizzato dal CNR-IBIMET in collaborazione con alcuni Dipartimenti Universitari, il Comune di Livorno, la Fondazione LEM, l’Autorit\ue0 Portuale di Livorno e il CeSIA-Accademia dei Georgofili, con il patrocinio dell’Accademia Nazionale dei Lincei, della Regione Toscana e della Provincia di Livorno. Il Simposio, che biennalmente si rivolge agli studiosi dell’area mediterranea, \ue8 stato improntato alla trattazione di temi correlati alle zone costiere del Mediterraneo e alla ricerca di soluzioni tecniche e strumentali a problemi inerenti alla produzione energetica in zona costiera, alla morfologia e all’evoluzione della linea di costa, alla flora e fauna del sistema litorale, alla gestione della tutela integrata delle coste, alla geografia della fascia costiera, all\u27antropizzazione del paesaggio costiero

La costa della Provincia di Sassari

L’analisi proposta dagli autori è particolarmente interessante per la Sardegna in quanto l’Isola, con circa 2000 km di coste comprese le isole minori, è la regione italiana con il maggiore perimetro costiero; le coste sono per lo più alte e a falesia (circa il 76 %). Le coste della Sardegna sono ben diverse da quelle della Penisola. L’unico litorale ampio e sicuro è quello di Cagliari, tutti gli altri sono: o archi sabbiosi con dune e stagni pa-lustri (un tempo malarici), o approdi chiusi da barriere montuose, o approdi rocciosi e ino-spitali, o piccoli porti naturali esposti al vento di Maestrale. Il primato di inviolabilità spetta alla costa orientale: una sorta di bastione ostile che intimorisce i naviganti e che solamente nella sua parte settentrionale si frastaglia in mille insenature e si frantuma in mille isolotti pericolosi a causa degli scogli sommersi. Certamente questa tipologia di costa, poco attrattiva, non ha favorito l’insediamento della popolazione isolana che si è progressivamente concentrata verso l’interno. Ciò ha, per contro, favorito l’insediamento di popolazioni allogene che si sono fermate, quando possibile, sulle coste proprio per non incontrare i barbari indigeni

Abstracts from the 23rd Italian congress of Cystic Fibrosis and the 13th National congress of Cystic Fibrosis Italian Society

Cystic Fibrosis (CF) occurs most frequently in caucasian populations. Although less common, this disorder have been reported in all the ethnicities. Currently, there are more than 2000 described sequence variations in CFTR gene, uniformly distributed and including variants pathogenic and benign (CFTR1:www.genet.sickkids.on.ca/). To date,only a subset have been firmily established as variants annotated as disease-causing (CFTR2: www.cftr2.org). The spectrum and the frequency of individual CFTR variants, however, vary among specific ethnic groups and geographic areas. Genetic screening for CF with standard panels of CFTR mutations is widely used for the diagnosis of CF in newborns and symptomatic patients, and to diagnose CF carrier status. These screening panels have an high diagnostic sensitivity (around 85%) for CFTR mutations in caucasians populations but very low for non caucasians. Developed in the last decade, Next-Generation Sequencing (NGS) has been the last breakthrough technology in genetic studies with a substantial reduction in cost per sequenced base and a considerable enhancement of the sequence generation capabilities. Extended CFTR gene sequencing in NGS includes all the coding regions, the splicing sites and their flankig intronic regions, deep intronic regions where are localized known mutations,the promoter and the 5'-3' UTR regions. NGS allows the analysis of many samples concurrently in a shorter period of time compared to Sanger method . Moreover, NGS platforms are able to identify CFTR copy number variation (CNVs), not detected by Sanger sequencing. This technology has provided new and reliable approaches to molecular diagnosis of CF and CFTR-Related Disorders. It also allows to improve the diagnostic sensitivity of newborn and carrier screeningmolecular tests. In fact, bioinformatics tools suitable for all the NGS platforms can filter data generated from the gene sequencing, and analyze only mutations with well-established disease liability. This approach allows the development of targeted mutations panels with a higher number of frequent CF mutations for the target populationcompared to the standard panels and a consequent enhancement of the diagnostic sensitivity. Moreover, in the emerging challenge of diagnosing CF in non caucasians patients, the possibility of customize a NGS targeted mutations panel should increase the diagnostic sensitivity when the target population has different ethnicities