Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome) : a review and classification of GALNS gene variants and reporting of 68 novel variants

Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is a rare autosomal recessive lysosomal storage disorder caused by mutations in the N-acetylgalactosamine-6-sulfatase (GALNS) gene. We collected, analyzed, and uniformly summarized all published GALNS gene variants, thus updating the previous mutation review (published in 2014). In addition, new variants were communicated by seven reference laboratories in Europe, the Middle East, Latin America, Asia, and the United States. All data were analyzed to determine common alleles, geographic distribution, level of homozygosity, and genotype-phenotype correlation. Moreover, variants were classified according to their pathogenicity as suggested by ACMG. Including those previously published, we assembled 446 unique variants, among which 68 were novel, from 1190 subjects (including newborn screening positive subjects). Variants' distribution was missense (65.0%), followed by nonsense (8.1%), splicing (7.2%), small frameshift deletions(del)/insertions(ins) (7.0%), intronic (4.0%), and large del/ins and complex rearrangements (3.8%). Half (50.4%) of the subjects were homozygous, 37.1% were compound heterozygous, and 10.7% had only one variant detected. The novel variants underwent in silico analysis to evaluate their pathogenicity. All variants were submitted to ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) to make them publicly available. Mutation updates are essential for the correct molecular diagnoses, genetic counseling, prenatal and preimplantation diagnosis, and disease management

How the new EU Dual-Use Regulation could benefit third countries?

peer reviewedEuropean Union P2P Programme on Export Control of Dual-use Goods Export Control - Chaudfontaine Grou

L'ultimo McGahern

John McGahern è annoverato tra i migliori autori della letteratura irlandese contemporanea ma, nonostante la fama internazionale, la sua maestria non fu subito unanimamente riconosciuta e tutt’ora rappresenta un curioso caso di “strabismo ricettivo”.Alla luce di una complessiva coerenza, nella varietà di situazioni, tematiche e personaggi presenti nei racconti di McGahern, emerge l’interazione tra dimensione soggettiva-familiare e macrocosmo nazionale, di cui il primo si manifesta come diretto riflesso. Ciò sottolinea lo stretto legame tra l’individuo e il contesto in cui egli è inserito e diventa del fulcro di un percorso letterario ed esistenziale che porterà McGahern a circoscrivere le sue opere agli spazi da lui vissuti, conferendo alla sua produzione un carattere fortemente autobiografico. Nonostante la complessiva ricezione positiva dell’autore di cui fu riconosciuta la grandezza, l’atteggiamento della critica rimase, tuttavia, contrastante riguardo la classificazione delle opere all’interno del filone letterario. Ciò confermerebbe la sua natura enigmatica e complessa sebbene non spieghi il motivo di un tardivo e tutt’ora non universale riconoscimento. Ben lungi dall’ambizione di essere esaustivo, questo lavoro nasce dalla volontà di dar voce ad un autore che è poco conosciuto in Italia sebbene la sua produzione abbia dato un contributo essenziale alla letteratura irlandese e fornisca un interessante spunto di riflessione sulla complessità dell’identità socio-culturale e nazionale del paese

Confronto di metodologie per la valutazione della vulnerabilità sismica: applicazione ad un edificio scolastico di rilevanza storica

Il lavoro di tesi ha come oggetto di studio il complesso scolastico “Andrea del Sarto”, situato a Firenze nel quartiere Campo di Marte. Lo studio dell’edificio ha avuto inizio con la ricerca di documentazione storica e recente sulla vita dell’edificio, sia dal punto di vista tecnico, quindi interventi e modifiche strutturali, sia sul cambiamento della destinazione d’uso con tutte le conseguenze da questo derivanti. Il materiale reperito è stato utilizzato come base di studio per effettuare un programma conoscitivo più approfondito della struttura. Questo ha permesso di poter definire un modello di calcolo che fosse quanto più vicino al comportamento dinamico della struttura

Occurrence, distribution and bibliography of the medicinal leech Hirudo verbana Carena, 1820 (Hirudinea, Hirudinidae) in Sicily (Italy)

The occurrence of the medicinal leech Hirudo verbana in the inland waters of Sicily has been lately overlooked. In the present note, the occurrence and distribution of this species is reviewed based both on the review of the available literature data and field collecting. Although a noteworthy reduction in the distribution range of the species seems to have taken place in Sicily in the course of the XX century, Hirudo verbana was confirmed to be still present in several sites located both within and out of Natura2000 sites. The Sicilian populations of the species should be included in the frame of the monitoring activities established by the Article 17 of the EU Council Directive 92/43/EEC (“Habitats Directive”).

Tracking the invasion of the red swamp crayfish Procambarus clarkii (Girard, 1852) (Decapoda Cambaridae) in Sicily: a “citizen science” approach

The first record of the red swamp crayfish in Sicily dates back to 2003 and, since then, the species seemed to be confined to a few localities in western Sicily. A small “citizen science” project carried out from November 2016 onwards led to the creation of the “Sicilian Procambarus working group” (SPwg), which aims at monitoring the distribution and impact of the species in Sicily. To date, the SPwg found the red swamp crayfish in five new sites on the island, thus doubling the number of local sites of occurrence. The new Procambarus clarkii sites lie in different river basins, some of them located several hundred kilometres from the invaded areas known to date, suggesting the existence of multiple independent releases of the species in the wild. The need of better informing the local population on the risks exerted by invasive species on biological diversity, and of carefully monitoring the impact of P. clarkii on the Sicilian inland water biota is briefly stressed

Tracking the invasion of the red swamp crayfish Procambarus clarkii (Girard, 1852) (Decapoda Cambaridae) in Sicily: a “citizen science” approach

The first record of the red swamp crayfish in Sicily dates back to 2003 and, since then, the species seemed to be confined to a few localities in western Sicily. A small “citizen science” project carried out from November 2016 onwards led to the creation of the “Sicilian Procambarus working group” (SPwg), which aims at monitoring the distribution and impact of the species in Sicily. To date, the SPwg found the red swamp crayfish in five new sites on the island, thus doubling the number of local sites of occurrence. The new Procambarus clarkii sites lie in different river basins, some of them located several hundred kilometres from the invaded areas known to date, suggesting the existence of multiple independent releases of the species in the wild. The need of better informing the local population on the risks exerted by invasive species on biological diversity, and of carefully monitoring the impact of P. clarkii on the Sicilian inland water biota is briefly stressed