Search results for "Italy"

showing 10 items of 2893 documents

Carrier screening for spinal muscular atrophy in Italian population

2014

Spinal muscular atrophy (SMA) is an autosomal-recessive neuromuscular disorder characterized by motor neuron degeneration in the anterior horn of the spinal cord and brain stem, resulting in progressive muscle weakness and atrophy. The responsible survival motor neuron gene (SMN1; HGNC: 11117) is localized in 5q11.2-13.3. Screening for carriers of SMA is necessary for effective clinical/prenatal diagnosis and genetic counselling. In this study, the copy number of SMN1 gene was determined from a southern Italian population to estimate carrier frequency. This is the first report addressing the estimation of SMA carrier frequency in an Italian population. Our results show that the SMA carrier …

HeterozygoteGenetic counselingGene DosagePhysiologycarrier screeningPrenatal diagnosisSMN1BiologyCarrier testingMuscular Atrophy SpinalAtrophyGene FrequencySettore BIO/13 - Biologia ApplicataPrevalenceGeneticsmedicineHumansGenetic Testingspinal muscular atrophysurvival motor neuron gene (SMN1); spinal muscular atrophy; carrier screening; MLPAExonsSpinal muscular atrophyMotor neuronSMA*medicine.diseaseSurvival of Motor Neuron 1 ProteinMLPAmedicine.anatomical_structureItalysurvival motor neuron gene (SMN1)Journal of Genetics
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Geochemical and sedimentological evidence of productivity cycles recorded in Toarcian black shales from the Belluno Basin, Southern Alps, northern It…

1999

ABSTRACT Organic-carbon-rich black shales cyclically alternating with bioturbated limestones and gray marlstones, which crop out in the Belluno Trough (Southern Alps, Italy), are expression of the early Toarcian anoxic event in the Tethys basin. Sedimentological and geochemical features such as well-developed lamination, common very small ( A negative 13C excursion at the middle part of the studied interval is correlative to maxima in TOC, V/Rb, and Ba/Rb values, identifying, within the Toarcian anoxic event, a stage of more intense bottom-water anoxia coupled with high surface fertility.

High surfacePaleontologyExcursionTrough (geology)GeologyStructural basinAnoxic watersGeologyNorthern italyJournal of Sedimentary Research
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La Sicilia e gli anni Cinquanta. Il decennio dell’economia

2019

From this prevailing of the political character of the Sicilian question and from the ambiguous mix of purported scientific analysis and ideological instrumentalization, between militant research and moral denunciation, the sacrifice of the history of Sicily was consumed for the benefit of history of ideas and imagery about Sicily. This certainly does not want to delegitimize the wealth of knowledge accumulated by a long intellectual tradition, which sometimes expressed important civil and political concerns, as much as recovering and giving historical depth to a history that has been more a subject of controversy than a field of investigation

History ItalySettore M-STO/04 - Storia ContemporaneaSicily
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Figurazioni dell'amor patrio - Esuli, profughi e migranti nelle arti visive del Risorgimento

2019

Figura simbolica fortemente radicata nell’immaginario risorgimentale, l’esule conferisce un volto umano a valori fondativi del discorso patriottico, come lo spirito di sacrificio e il senso di appartenenza alla comunità nazionale. Da tempo oggetto di studi storici, storico-letterari e comparatistici, il tema dell’esilio conosce una notevole fortuna iconografica nell’Europa del XIX secolo, qui per la prima volta esaminata in maniera sistematica grazie alla ricostruzione puntuale della genesi di opere che in virtù della loro natura allusiva suscitano l’interesse degli ambienti patriottici. Oltre a proporre una casistica dei motivi più ricorrenti, l’autore interpreta le immagini dell’esilio al…

HistoryArte pubblicaNazionalismoArt publicArt criticismRisorgimentoStoriaSettore L-ART/03 - Storia Dell'Arte ContemporaneaStoria dell'arteStudi sull'esilioCultura visivaNationalismEmotionSettore L-ART/04 - Museologia E Critica Artistica E Del Restauro19th CenturyLe emozioniVisual cultureArt exhibitionArt historyItaliaItalyExileIconografia politicaEsibizione artisticaPolitical iconography19esimo secoloEsilioExile studieCritica d'arte
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Analysis of a Station Black-Out transient in SMR by using the TRACE and RELAP5 code

2014

The present paper deals with the investigation of the evolution and consequences of a Station Black-Out (SBO) initiating event transient in the SPES3 facility [1]. This facility is an integral simulator of a small modular reactor being built at the SIET laboratories, in the framework of the R&D program on nuclear fission funded by the Italian Ministry of Economic Development and led by ENEA. The SBO transient will be simulated by using the RELAP5 and TRACE nodalizations of the SPES3 facility. Moreover, the analysis will contribute to study the differences on the code predictions considering the different modelling approach with one and/or three-dimensional components and to compare the capa…

HistoryEngineeringRELAP5business.industryEvent (computing)Nuclear engineeringNuclear fissionTRACESMRNuclear reactors -- Models -- ItalyComputer Science ApplicationsEducationSmall modular reactorNuclear fissionNuclear reactors -- Safety measuresCode (cryptography)Black outChristian ministryTransient (computer programming)businessSettore ING-IND/19 - Impianti NucleariSimulationTRACE (psycholinguistics)Journal of Physics: Conference Series
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The discovery of stapes

2013

Giovanni Filippo Ingrassia revisited and redefined some of Galeno's reports, and was recognized as one of the leading Italian Physicians of the 16th century. Ingrassia principally studied the skull, and gave very important contributions to otorhinolaryngology, including the discovery of the stapes. He also isolated the inferior nasal concha from the maxillary bone, described the frontal sinus, the pterygopalatine fossa and several foramina of the skull. Ingrassia firstly attributed a sensorial function to the middle ear bones, which he called fifth particular function. He also added some details to the description of the VIII cranial nerve, which introduces the concept of bone conducting so…

HistoryHistory CornerOtologyEarHistoryOtologyStapes HearingIngrassiaEarStapesIngrassiaOtolaryngologyHearingItalyHistory 16th Centuryotorhinolaryngologic diseasesHumansActa Otorhinolaryngologica Italica
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Lucrècia Borja. L'alteració d’una identitat i l’errònia atribució de la pintura de Flora de Bartolomeo Veneto

2017

Resum: Aquest treball preten emfatitzar l’erronia identitat que ha arribat fins als nostres dies de Lucrecia Borja i l’equivocada atribucio que se n’ha fet d’alguns retrats. Com ara, la pintura de Flora (c.1520), pintada per Bartolomeo Veneto, que ha passat a la historia com una indissoluble identificacio de Lucrecia. Els estudis actuals han demostrat que representa un model ideal influit pel context literari probablement relacionat amb Pietro Bembo. Durant el Renaixement, els retrats representen molt mes que una identitat concreta i mimetica. Son suports de prestigi i transmissio ideologica, de virtuts morals, memoria, etc. En l’ambit artistic venecia de principis del segle XVI sorgeixen m…

HistoryLiterature and Literary Theorymedia_common.quotation_subjectlcsh:Literature (General)Short paperlcsh:D111-203lcsh:Medieval historyContext (language use)Borja Lucrècia 1480-1519 -- PortraitsLanguage and LinguisticsPortraitRetrats del Renaixement -- ItàliaVeneto Bartolomeo 1502-1531Portraits Renaissance -- Italymedia_commonUNESCO::CIENCIAS DE LAS ARTES Y LAS LETRASPaintingPoetryHistoriographyArtBorja Lucrècia 1480-1519 -- Retratslcsh:PN1-6790Poeticslcsh:D204-475:CIENCIAS DE LAS ARTES Y LAS LETRAS [UNESCO]ExegesisHumanitieslcsh:Modern history 1453-SCRIPTA. Revista Internacional de Literatura i Cultura Medieval i Moderna
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Analysis of a full-scale integral test in PERSEO facility by using TRACE code

2017

Over the last decades a lot of experimental researches have been done to increase the reliability of passive decay heat removal systems implementing in-pool immersed heat exchanger. In this framework, a domestic research program on innovative safety systems was carried out leading the design and the development of the PERSEO facility at the SIET laboratories. The configuration of the system consists of an heat exchanger contained in a small pool which is connected both at the bottom and at the top to a large water reservoir pool. Within the frame of a national research program funded by the Italian minister of economic development, the DEIM department of the University of Palermo in coopera…

HistoryPERSEO Validation TRACE Thermal-hydraulics Passive safety systemsPhysics -- ExperimentsHeat exchangersComputer scienceNuclear engineeringFrame (networking)Full scaleExperimental dataSystem safetyComputer Science ApplicationsEducationThermal hydraulicsEconomic development -- ItalyHeat exchangerDecay heatTRACE (psycholinguistics)
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A multidisciplinary approach to the study of cultural heritage environments: Experience at the Palatina Library in Parma

2015

The aim of this paper is to describe a multidisciplinary approach including biological and particle monitoring, and microclimate analysis associated with the application of the Computational Fluid Dynamic (CFD). This approach was applied at the Palatina historical library in Parma. Monitoring was performed both in July and in December, in the absence of visitors and operators. Air microbial monitoring was performed with active and passive methods. Airborne particles with a diameter of ≥0.3, ≥0.5, ≥1 and ≥5 μm/m3, were counted by a laser particle counter. The surface contamination of shelves and manuscripts was assessed with nitrocellulose membranes. A spore trap sampler was used to identify…

HistoryParticle countingEnvironmental EngineeringAirflowAir MicrobiologyLibrariesBiologyTracingParticle tracking velocimetryLatent heatEnvironmental monitoringEnvironmental ChemistryWaste Management and DisposalRemote sensingSimulation modelingEnvironmental engineeringContaminationPollutionBiological monitoringItalyAir Pollution IndoorSettore BIO/03 - Botanica Ambientale E ApplicataCultural heritage; Biological monitoring; Particle countingCultural heritageCultural heritage Biological monitoring Particle countingParticle counterEnvironmental Monitoring
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“A Perfect Heroine in Foreign Travel.” Female Mobile Identities and Southern Italy in the 19th Century Non-feminist Periodical Press

2016

This essay focuses on the inteaction between the publication of female travel writing abouth the South Of Italy in non -feminist 19th century British periodicaldìs and the circulation of a transgressive model of femininity centred on the concepts of mobility, vitality and visibility. the choice of Southern Italy, and anti-tourist destination that since the era of the Grand Tour had been considered dangerous for men, let alone for women, magnifies female heroic attitudes and contaminates female conventional domestic purity enhancing the concept of an unfixed female identity. The publications of a travelogue, a mostly non fictional genre, on an innovative and reactive medium, was a manifest a…

HistoryPeriodical pressArt historywomen travelogues 19th century non-feminist periodicals Southern Italy visibility mobility anti-Angel iconSettore L-LIN/10 - Letteratura IngleseJournal of Literature and Art Studies
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