Transnational Access to Research Facilities: an EPOS service to promote multi-domain Solid Earth Sciences in Europe

Transnational access (TNA) allows cross-border, short-term and frequently free-of-charge access to world-class research facilities, to foster collaborations and exchanges of experience. Specifically, TNA aims to encourage open science and innovation and to increase the efficient and effective use of scientific infrastructure. Within EPOS, the European Plate Observing System, the Volcano Observatories and Multi-scale Laboratories communities have offered TNA to their high-quality research facilities through national and European funding. This experience has allowed the definition, design, and testing of procedures and activities needed to provide transnational access inn the EPOS context. In this paper, the EPOS community describes the main objectives for the provision of transnational access in the EPOS framework, based on previous experiences. It includes practical procedures for managing transnational access from a legal, governance, and financial perspective, and proposes logistical and technical solutions to effectively execute transnational access activities. In addition, it provides an outlook on the inclusion of new thematic communities within the TNA framework, and addresses the challenges of providing market-driven access to industry.publishedVersio

Vulcani: esplosioni ed effusioni

Si tratta dei pannelli realizzati per la mostraVulcani: Esplosioni ed effusioni Festival della Scienza di Genova 2007 Palazzo Ducale – Sottoporticato, Genova Una nuova mostra interattiva delll’Istituto Nazionale di Geofisica e Vucanologia, alla scoperta dei segreti del nostro pianeta e del mondo spettacolare dei vulcani. Organizzato come un “racconto”, è un lungo viaggio dalla nascita Terra ad oggi che aiuta a comprendere il ruolo fondamentale dei vulcani nella storia del nostro pianeta. Inizia con una proiezione 3d seguita da un filmato spettacolare e coinvolgente di eruzioni vulcaniche. Nella mostra si incontrano poi un grande modello di vulcano che può essere “acceso” in modalità interattiva, producendo un’eruzione esplosiva con gran fragore, sezioni di vulcano per scoprire “cosa c’è sotto”, plastici associati ad una speciale proiezione che permette di visualizzare sia l’eruzione sia l’interno del vulcano. E ancora rocce vulcaniche e un laboratorio per esperienze guidate, per capire il meccanismo che provoca l’eruzione, studiando il legame tra gas, pressione ed esplosione, anche utilizzando ulteriori modellini di vulcano. Il fatto che spesso le eruzioni vulcaniche siano accompagnate da attività sismica ci introduce alla parte finale della mostra, dedicata ai terremoti. L’obiettivo complessivo della mostra è quello di comunicare e far comprendere l’importanza del lavoro di ricerca e di controllo che svolge l’INGV e il riflesso che questo ha nella vita di ciascuno di noi. Si tratta, in sostanza, di “raccontare” le attività scientifiche svolte dall’Istituto inquadrandole dal punto di vista del visitatore.Con i contributi dell’Associazione per il Festival della Scienza e del Dipartimento della Protezione CivilePublished5.8. TTC - Formazione e informazionereserve

Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy

Background: In facioscapulohumeral muscular dystrophy (FSHD), it is not known whether physical activity (PA) practiced at young age is associated with the clinical presentation of disease. To assess this issue, we performed a retrospective cohort study concerning the previous practice of sports and, among them, those with medium-high cardiovascular commitment in clinically categorized carriers of a D4Z4 reduced allele (DRA). Methods: People aged between 18 and 60 were recruited as being DRA carriers. Subcategory (classical phenotype, A; incomplete phenotype, B; asymptomatic carriers, C; complex phenotype, D) and FSHD score, which measures muscle functional impairment, were assessed for all participants. Information on PAs was retrieved by using an online survey dealing with the practice of sports at a young age. Results: 368 participants were included in the study, average age 36.6 years (SD = 9.4), 47.6% male. The FSHD subcategory A was observed in 157 (42.7%) participants with average (± SD) FSHD score of 5.8 ± 3.0; the incomplete phenotype (category B) in 46 (12.5%) participants (average score 2.2 ± 1.7) and the D phenotype in 61 (16.6%, average score 6.5 ± 3.8). Asymptomatic carriers were 104 (subcategory C, 28.3%, score 0.0 ± 0.2). Time from symptoms onset was higher for patients with A (15.8 ± 11.1 years) and D phenotype (13.3 ± 11.9) than for patients with B phenotype (7.3 ± 9.0). The practice of sports was associated with lower FSHD score (-17%) in participants with A phenotype (MR = 0.83, 95% CI = 0.73-0.95, p = 0.007) and by 33% in participants with D phenotype (MR = 0.67, 95% CI = 0.51-0.89, p = 0.006). Conversely, no improvement was observed in participants with incomplete phenotype with mild severity (B). Conclusions: PAs at a young age are associated with a lower clinical score in the adult A and D FSHD subcategories. These results corroborate the need to consider PAs at the young age as a fundamental indicator for the correct clinical stratification of the disease and its possible evolution

Volcanoes: effusions and explosions. Interactive exhibits to understand how volcanoes work

The Educational & Outreach Group (EOG) of the Istituto Nazionale di Geofisica & Vulcanologia created a portable museum to provide educational opportunities in volcanology, volcanic risk and Earth science for students and visitors. The EOG developed this project for the "Festival della Scienza", organized in Genoa, Italy, in October - November, 2007, which was a parade of over 200 events, including scientific and technological exhibitions, workshops, meetings, lectures, books and video presentations. In this museum visitors can successively see many posters and movies and play with interactive exhibits. A little 3D-movie shows the Big Bang, the formation of Solar System and, in particular the formation of the Earth. Many interactive exhibits illustrate why, where and when earthquakes and volcanic eruptions occur around the world and allow to introduce the visitor to the plate tectonics theory. A 3D magnetic plate tectonic puzzle can be put down and reconstructed by visitors to understand the Earth’s surface configuration. Then two other 3D Earth models show what drives the plates and the inner Earth structure. An interactive program illustrates where and when earthquakes and volcanic eruptions occur in accelerated time on maps of various areas around the world. Playing with a block diagram it is possible to produce an earthquake along a 1 meter long strike slip fault in a destroying all the man-made constructions close to it. A little movie introduces to volcanoes’ world. Two small interactive exhibits allow visitors to understand the mechanism for the explosive and the effusive eruptions. Two other exciting interactive exhibits allow visitors to “create” two different eruptions: the explosive and the effusive ones. It is possible to get inside a volcano (a 2 meter high interactive exhibit) to attend an eruption from the magmatic chamber to the Earth surface. A big hall is completed dedicated to Italian volcanoes (Vesuvio, Campi Flegrei, Etna, Stromboli, Vulcano, Colli Albani); some of them are reproduced with 3D models or described by short movies. The museum finishes with the visit of the volcanic survey hall of Stromboli, seeing - in real time - seismic data, three different webcams, geochemical and strain data. The INGV Museum had remarkably successful, reaching more than 7,500 children and adults yet in 13 days, also thanks to 30 volcanologists as very special guides. The Educational & Outreach Group: M. Pignone, A. Tertulliani, M. De Lucia, M. Di Vito, P. Landi, P. Madonia, M. Martini, R. Nave, M. Neri, P. Scarlato, J. Taddeucci, R. Moschillo, S. Tarquini, G. Vilardo, A. Bonforte, L. Calderone, F. Cannavò, W. De Cesare, P. Ficeli, S. Inguaggiato, M. Mattia, G. Puglisi, S. Morici, D. Reitano, D. Richichi, G. Scarpato, B. Angioni, F. Di Laura, S. Palone, D. Riposat

Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network

Background and objectives: Hereditary spastic paraplegias (HSPs) are a group of inherited rare neurologic disorders characterized by length-dependent degeneration of the corticospinal tracts and dorsal columns, whose prominent clinical feature is represented by spastic gait. Spastic paraplegia type 4 (SPG4, SPAST-HSP) is the most common form. We present both clinical and molecular findings of a large cohort of patients, with the aim of (1) defining the clinical spectrum of SPAST-HSP in Italy; (2) describing their molecular features; and (3) assessing genotype-phenotype correlations to identify features associated with worse disability. Methods: A cross-sectional retrospective study with molecular and clinical data collected in an anonymized database was performed. Results: A total of 723 Italian patients with SPAST-HSP (58% men) from 316 families, with a median age at onset of 35 years, were included. Penetrance was 97.8%, with men showing higher Spastic Paraplegia Rating Scale (SPRS) scores (19.67 ± 12.58 vs 16.15 ± 12.61, p = 0.009). In 26.6% of patients with SPAST-HSP, we observed a complicated phenotype, mainly including intellectual disability (8%), polyneuropathy (6.7%), and cognitive decline (6.5%). Late-onset cases seemed to progress more rapidly, and patients with a longer disease course displayed a more severe neurologic disability, with higher SPATAX (3.61 ± 1.46 vs 2.71 ± 1.20, p < 0.001) and SPRS scores (22.63 ± 11.81 vs 12.40 ± 8.83, p < 0.001). Overall, 186 different variants in the SPAST gene were recorded, of which 48 were novel. Patients with SPAST-HSP harboring missense variants displayed intellectual disability (14.5% vs 4.4%, p < 0.001) more frequently, whereas patients with truncating variants presented more commonly cognitive decline (9.7% vs 2.6%, p = 0.001), cerebral atrophy (11.2% vs 3.4%, p = 0.003), lower limb spasticity (61.5% vs 44.5%), urinary symptoms (50.0% vs 31.3%, p < 0.001), and sensorimotor polyneuropathy (11.1% vs 1.1%, p < 0.001). Increasing disease duration (DD) and abnormal motor evoked potentials (MEPs) were also associated with increased likelihood of worse disability (SPATAX score>3). Discussion: The SPAST-HSP phenotypic spectrum in Italian patients confirms a predominantly pure form of HSP with mild-to-moderate disability in 75% of cases, and slight prevalence of men, who appeared more severely affected. Early-onset cases with intellectual disability were more frequent among patients carrying missense SPAST variants, whereas patients with truncating variants showed a more complicated disease. Both longer DD and altered MEPs are associated with worse disability

A 5-year clinical follow-up study from the Italian National Registry for FSHD.

BACKGROUND: The natural history of facioscapulohumeral muscular dystrophy (FSHD) is undefined. METHODS: An observational cohort study was conducted in 246 FSHD1 patients. We split the analysis between index cases and carrier relatives and we classified all patients using the Comprehensive Clinical Evaluation Form (CCEF). The disease progression was measured as a variation of the FSHD score performed at baseline and at the end of 5-year follow-up (ΔFSHD score). FINDINGS: Disease worsened in 79.4% (112/141) of index cases versus 38.1% (40/105) of carrier relatives and advanced more rapidly in index cases (ΔFSHD score 2.3 versus 1.2). The 79.1% (38/48) of asymptomatic carriers remained asymptomatic. The highest ΔFSHD score (1.7) was found in subject with facial and scapular weakness at baseline (category A), whereas in subjects with incomplete phenotype (facial or scapular weakness, category B) had lower ΔFSHD score (0.6) p < 0.0001. CONCLUSIONS: The progression of disease is different between index cases and carrier relatives and the assessment of the CCEF categories has strong prognostic effect in FSHD1 patients

Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis.

Facioscapulohumeral muscular dystrophy (FSHD) is a myopathy with prevalence of 1 in 20,000. Almost all patients affected by FSHD carry deletions of an integral number of tandem 3.3 kilobase repeats, termed D4Z4, located on chromosome 4q35. Assessment of size of D4Z4 alleles is commonly used for FSHD diagnosis. However, the extended molecular testing has expanded the spectrum of clinical phenotypes. In particular, D4Z4 alleles with 9-10 repeat have been found in healthy individuals, in subjects with FSHD or affected by other myopathies. These findings weakened the strict relationship between observed phenotypes and their underlying genotypes, complicating the interpretation of molecular findings for diagnosis and genetic counseling. In light of the wide clinical variability detected in carriers of D4Z4 alleles with 9-10 repeats, we applied a standardized methodology, the Comprehensive Clinical Evaluation Form (CCEF), to describe and characterize the phenotype of 244 individuals carrying D4Z4 alleles with 9-10 repeats (134 index cases and 110 relatives). The study shows that 54.5% of index cases display a classical FSHD phenotype with typical facial and scapular muscle weakness, whereas 20.1% present incomplete phenotype with facial weakness or scapular girdle weakness, 6.7% display minor signs such as winged scapula or hyperCKemia, without functional motor impairment, and 18.7% of index cases show more complex phenotypes with atypical clinical features. Family studies revealed that 70.9% of relatives carrying 9-10 D4Z4 reduced alleles has no motor impairment, whereas a few relatives (10.0%) display a classical FSHD phenotype. Importantly all relatives of index cases with no FSHD phenotype were healthy carriers. These data establish the low penetrance of D4Z4 alleles with 9-10 repeats. We recommend the use of CCEF for the standardized clinical assessment integrated by family studies and further molecular investigation for appropriate diagnosis and genetic counseling. Especially in presence of atypical phenotypes and/or sporadic cases with all healthy relatives is not possible to perform conclusive diagnosis of FSHD, but all these cases need further studies for a proper diagnosis, to search novel causative genetic defects or investigate environmental factors or co-morbidities that may trigger the pathogenic process. These evidences are also fundamental for the stratification of patients eligible for clinical trials. Our work reinforces the value of large genotype-phenotype studies to define criteria for clinical practice and genetic counseling in rare diseases

Planning and managing a seismic emergency: The INGV drill of November 26th, 2015 carried out in the framework of the activity line T5 "Seismic surveillance and post-earthquake operational procedures" | Pianificazione e gestione di un'emergenza sismica: Esercitazione INGV del 26 novembre 2015 effettuata nell'ambito della Linea di Attività T5 "Sorveglianza sismica e operatività post terremoto"

Nella Struttura Terremoti dell’INGV la Linea di Attività T5 “Sorveglianza sismica ed operatività postterremoto” si occupa delle attività di sviluppo di strumenti e procedure per la valutazione in tempo reale degli effetti di terremoti e tsunami e della gestione delle emergenze sismiche. Uno dei suoi obiettivi del 2015 era la formalizzazione dei protocolli di intervento di Gruppi d’Emergenza, avvenuta per Emergeo, Emersito, IES, QUEST e Sismiko con Decreto del Presidente nel luglio 2015. Altro obiettivo era l’elaborazione di un Protocollo di Ente per la gestione delle emergenze sismiche. La bozza preparata nel 2015 prevede l’importante novità dell’Unità di Crisi, mai formalizzata in precedenza. Attraverso questo Protocollo di Ente si auspica di migliorare la risposta logistico-operativa dell’INGV durante l’emergenza, di avere una più rapida conoscenza del fenomeno in corso e di realizzare un’efficace comunicazione verso Protezione Civile, media e pubblico. Per verificare il tutto è stata organizzata un’esercitazione in cui è stato simulato un terremoto di magnitudo 6.4 nel basso Lazio. Si sono così sperimentate l’efficacia del flusso azioni/informazioni durante un’emergenza, il funzionamento dell’Unità di Crisi, la funzionalità dei protocolli dei Gruppi d’Emergenza, l’efficienza delle attività in sede per gli aspetti tecnico-logistici, il flusso di comunicazione interno e le comunicazioni istituzionali esterne (queste ultime simulate). In questo articolo sono descritte le fasi di organizzazione ed attuazione dell’esercitazione. Inoltre, durante il suo svolgimento, la valutazione dell’efficacia dell’organizzazione e delle attività svolte dai gruppi coinvolti è stata affidata ad alcuni osservatori e qui è allegata l’elaborazione dei commenti riportati. Abbiamo fatto infine una sintesi dei risultati positivi e delle criticità emerse dall’esercitazione, attività così importante a nostro avviso da considerarne indispensabile la ripetizione con cadenza quanto meno annuale.Published1SR. TERREMOTI - Servizi e ricerca per la SocietàN/A or not JCRope

Central nervous system trans-synaptic effects of acute axonal injury : a 1-H magnetic resonance spectroscopy study

N-acetylaspartate (NAA) has previously been proposed as a neuronal marker. 1H magnetic resonance spectroscopy (MRS) is able to detect NAA in brain, and decreases of NAA have been documented after brain injury. The reason for this decrease is not fully understood and neuron loss damage and "dysfunction" have all been proposed. It is hypothesized that acute central nervous system (CNS) deafferentation causes a trans-synaptic NAA decrease and that high resolution 1H MRS is able to detect such a decrease. To test this hypothesis, an experimental model was used in which axonal lesions were obtained by stretch injury in guinea pig right optic nerve (95-99% crossed fibers). The trans-synaptic concentration of NAA, total creatine (Cr), and the NAA/Cr ratio in lateral geniculate bodies (LGB) and superior colliculi (SC) sample extracts were measured 72 h later by high resolution 1H MRS. In the left LGB/SC, which is where right optic nerve fibers project, reductions of NAA and NAA/Cr were found whereas Cr levels were normal. NAA, NAA/Cr, and Cr values were all normal in the right LGB/SC. Histology and EM findings revealed no abnormalities. At 7 days, left LGB/SC NAA and NAA/Cr values were in the normal range. It was concluded that 1) acute deafferentation in the CNS causes a trans-synaptic decrease of NAA levels that can be detected by 1H MRS and 2) NAA decrease may be due to changes of NAA metabolism caused by functional neuronal inactivity rather than neuronal loss, injury or "dysfunction." 1H MRS is a potential tool for the study of functional effect of CNS lesions in vivo

The 15 March 2007 paroxysm of Stromboli: video-image analysis, and textural and compositional features of the erupted deposit

On 15 March 2007, a paroxysmal event occurred within the crater terrace of Stromboli, in the Aeolian Islands (Italy). Infrared and visible video recordings from the monitoring network reveal that there was a succession of highly explosive pulses, lasting about 5 min, from at least four eruptive vents. Initially, brief jets with low apparent temperature were simultaneously erupted from the three main vent regions, becoming hotter and transitioning to bomb-rich fountaining that lasted for 14 s. Field surveys estimate the corresponding fallout deposit to have a mass of similar to 1.9 x 10(7) kg that, coupled with the video information on eruption duration, provides a mean mass eruption rate of similar to 5.4 x 10(5) kg/s. Textural and chemical analyses of the erupted tephra reveal unexpected complexity, with grain-size bimodality in the samples associated with the different percentages of ash types (juvenile, lithics, and crystals) that reflects almost simultaneous deposition from multiple and evolving plumes. Juvenile glass chemistry ranges from a gas-rich, low porphyricity end member (typical of other paroxysmal events) to a gas-poor high porphyricity one usually associated with low-intensity Strombolian explosions. Integration of our diverse data sets reveals that (1) the 2007 event was a paroxysmal explosion driven by a magma sharing common features with large-scale paroxysms as well as with "ordinary" Strombolian explosions; (2) initial vent opening by the release of a pressurized gas slug and subsequent rapid magma vesiculation and ejection, which were recorded both by the infrared camera and in the texture of fallout products; and (3) lesser paroxysmal events can be highly dynamic and produce surprisingly complex fallout deposits, which would be difficult to interpret from the geological record alone