Common genetic variants in NEFL influence gene expression and neuroblastoma risk

The genetic etiology of sporadic neuroblastoma is still largely obscure. In a genome-wide association study, we identified single-nucleotide polymorphisms (SNP) associated with neuroblastoma at the CASC15, BARD1, LMO1, DUSP12, HSD17B12, HACE1, and LIN28B gene loci, but these explain only a small fraction of neuroblastoma heritability. Other neuroblastoma susceptibility genes are likely hidden among signals discarded by the multiple testing corrections. In this study, we evaluated eight additional genes selected as candidates for further study based on proven involvement in neuroblastoma differentiation. SNPs at these candidate genes were tested for association with disease susceptibility in 2,101 cases and 4,202 controls, with the associations found replicated in an independent cohort of 459 cases and 809 controls. Replicated associations were further studied for cis-effect using gene expression, transient overexpression, silencing, and cellular differentiation assays. The neurofilament gene NEFL harbored three SNPs associated with neuroblastoma (rs11994014: Pcombined \ubc 0.0050; OR, 0.88; rs2979704: Pcombined \ubc 0.0072; OR, 0.87; rs1059111: Pcombined \ubc 0.0049; OR, 0.86). The protective allele of rs1059111 correlated with increased NEFL expression. Biologic investigations showed that ectopic overexpression of NEFL inhibited cell growth specifically in neuroblastoma cells carrying the protective allele. NEFL overexpression also enhanced differentiation and impaired the proliferation and anchorage-independent growth of cells with protective allele and basal NEFL expression, while impairing invasiveness and proliferation of cells homozygous for the risk genotype. Clinically, high levels of NEFL expression in primary neuroblastoma specimens were associated with better overall survival (P \ubc 0.03; HR, 0.68). Our results show that common variants of NEFL influence neuroblastoma susceptibility and they establish that NEFL expression influences disease initiation and progressio

UTILIZZO DELLA SPETTROSCOPIA FTIR PER LO STUDIO DEL TRASPORTO DI MASSA IN POLIMERI AD ALTA TG

Analisi del trasporto di sostanze a basso peso molecolare in polimeri vetrosi utilizzando spettroscopia FTIR in-situ in condizioni di pressione del gas o del vapore controllata. Analisi dell'effetto di uno stato tensionale di trazione sulla diffusione di acqua. Analisi con modelli teorici (Larchè-Cahn, Sarti-Carbonell, Neogi)

Non solo petrolio. Strategie per lo sviluppo sostenibile della Val d'Agri

[English]:The local dimension of development, even in a framework of global relationships and interconnections, appears as a topic of great interest for the territorial planning disciplines, opening new spaces above all in the reflection on the effectiveness of large area and supra-municipal level planning. The Val d’Agri Inter-communal Structural Plan was conceived as an experimental model of inter-municipal plan, as per DGR n. 1495 of 21/09/2010 of the Basilicata Region, for the development of which a Memorandum of Understanding was signed between the administrations of 23 municipalities. Reference for the entire activity of technical and scientific support to the Staff of the Basilicata Region were three academic institutions: the School of Engineering (SI) of the University of Basilicata, the Department of European and Mediterranean Cultures (DiCEM) of the University of Basilicata, the Urban and Spatial Planning Laboratory "Raffaele D'Ambrosio" (LUPT) of the Federico II University of Naples After a first phase of the research work, concluded in 2014 and whose results are summarized in this volume, in 2018 the technical-scientific support activities have been resumed to allow the Region to define the eventual final products of the Inter-municipal Structural Plan of Val d'Agri../ [Italiano]:La dimensione locale dello sviluppo, pur in un quadro di relazioni ed interconnessioni globali, si presenta come un tema di grande interesse per le discipline della pianificazione del territorio, aprendo nuovi spazi soprattutto nella riflessione sulla efficacia della pianificazione di area vasta e di livello sovracomunale. Il Piano Strutturale Intercomunale della Val d’Agri è stato concepito quale modello sperimentale di piano intercomunale, come da DGR n. 1495 del 21/09/2010 della Regione Basilicata, per il cui sviluppo è stato sottoscritto un Protocollo d'Intesa tra le amministrazioni dei 23 comuni interessati. Riferimento per l’intera attività di supporto tecnico scientifico allo Staff della Regione Basilicata sono state tre strutture universitarie: la Scuola di Ingegneria (SI) della Università della Basilicata, il Dipartimento delle Culture Europee e del Mediterraneo (DiCEM) della Università della Basilicata, il Laboratorio di Urbanistica e Pianificazione del Territorio “Raffaele D’Ambrosio” (LUPT) della Università Federico II di Napoli. Dopo una prima fase del lavoro di ricerca, conclusasi nel 2014 ed i cui esiti sono riportati in sintesi nel presente volume, nel 2018 sono state riprese, sulla base di apposita delibera della giunta regionale, le attività di supporto tecnico-scientifico per consentire alla Regione di definire gli eventuali prodotti finali del Piano Strutturale Intercomunale della Val d’Agr

Relationship between upper gastrointestinal bleeding and non steroidal anti-inflammatory

Abstract The authors evaluated the relationship between drug intake and upper gastrointestinal (GI) bleeding. The endoscopic files of the previous 2 years were reviewed and the incidence and age and sex distribution recorded. GI bleeding is indication for a high percentage of lower endoscopies and a low percentage of upper endoscopies. On the other hand, although rarer upper GI bleeding is more severe and frequently related to drug ingestion. About 50% of cases showed gastric erosions secondary to drug intake. A relation between gastric bleeding and paracetamol is considered, as is the possibility of preventing secondary severe bleeding by pharmacologic gastric protection in children with risk factors such as chronic use of otherdrugs or portal hypertension

Preparation and characterization of PBT nanocomposites compounded with different montmorillonites

Because of their superior mechanical and thermal properties, light weight, and favorable cost/performance ratio, nanocomposite materials appear to be suitable replacements for metals and alloys in many industrial applications in fields such as automotive, structural plastics, electronics, packaging, and so on (1). The technological relevance of this large-scale market for polymers is evidenced by the numerous patents issued over the last few years, even though only few applications have entered the market. Polymer-clay nanocomposite systems were successfully prepared by melt compounding using several thermoplastic matrices (polyamides, polyolefins, etc.), but few data are reported in the scientific literature on polyester-based nanocomposites (2). Because of the high commercial relevance of polyesters, we have investigated the effect of organoclay inclusion on the structure and properties of these hybrid systems. In particular, we have studied the relationships between processing conditions, hybrid composition (organoclay type and content), nanoscale morphology and properties of poly(butylene terephthalate) (PBT) nanocomposites based upon several commercial organo-modified montmorillonites at different weight percentages. The melt compounding was performed using a twin-screw extruder, at extrusion rates of 90 or 150 rpm

Idatidosi umana: recenti acquisizioni e descrizione di quattro casi pediatrici a sede inusuale

Human hydatid disease due to Echinococcus granulosus is frequently observed in Italy, especially in the central and southern areas and on the islands. In the last twenty years some major advances in the field thefield of epidemiology as well as diagnostic and therapeutical approaches have changed our knowledge of this disease. In Italy, localization in the liver, kidney or peritoneum accounts for about 95% of cases. The authors describe four describe four paediatric cases with unusual localization (kidney and muscle), highlighting difficulties in the diagnosi