Search results for " theme."
showing 10 items of 71 documents
Seasonal Human Coronavirus Respiratory Tract Infection in Recipients of Allogeneic Hematopoietic Stem Cell Transplantation
2021
Abstract Background Little is known about characteristics of seasonal human coronaviruses (HCoVs) (NL63, 229E, OC43, and HKU1) after allogeneic stem cell transplantation (allo-HSCT). Methods This was a collaborative Spanish and European bone marrow transplantation retrospective multicenter study, which included allo-HSCT recipients (adults and children) with upper respiratory tract disease (URTD) and/or lower respiratory tract disease (LRTD) caused by seasonal HCoV diagnosed through multiplex polymerase chain reaction assays from January 2012 to January 2019. Results We included 402 allo-HSCT recipients who developed 449 HCoV URTD/LRTD episodes. Median age of recipients was 46 years (range,…
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant.
2021
Almost half of all individuals affected by intellectual disability (ID) remain undiagnosed. In the Solve-RD project, exome sequencing (ES) datasets from unresolved individuals with (syndromic) ID (n = 1,472 probands) are systematically reanalyzed, starting from raw sequencing files, followed by genome-wide variant calling and new data interpretation. This strategy led to the identification of a disease-causing de novo missense variant in TUBB3 in a girl with severe developmental delay, secondary microcephaly, brain imaging abnormalities, high hypermetropia, strabismus and short stature. Interestingly, the TUBB3 variant could only be identified through reanalysis of ES data using a genome-wi…
From inequitable to sustainable e-waste processing for reduction of impact on human health and the environment
2021
Recycling of electric and electronic waste products (e-waste) which amounted to more than 50 million metric tonnes per year worldwide is a massive and global operation. Unfortunately, an estimated 70 & ndash;80% of this waste has not been properly managed because the waste went from developed to low-income countries to be dumped into landfills or informally recycled. Such recycling has been carried out either directly on landfill sites or in small, often family-run recycling shops without much regulations or oversights. The process traditionally involved manual dismantling, cleaning with hazardous solvents, burning and melting on open fires, etc., which would generate a variety of toxic sub…
Complement proteins regulating macrophage polarisation on biomaterials
2019
[EN] One of the events occurring when a biomaterial is implanted in an host is the protein deposition onto its surface, which might regulate cell responses. When a biomaterial displays a compromised biocompatibility, distinct complement pathways can be activated to produce a foreign body reaction. In this article, we have designed different types of biomaterial surfaces to study the inflammation process. Here, we used different concentrations of (3-glycidoxypropyl)-trimethoxysilane (GPTMS), an organically-modified alkoxysilane as a precursor for the synthesis of various types of sol-gel materials functionalizing coatings for titanium implants to regulate biological responses. Our results sh…
Zebrafish as a Model to Evaluate a CRISPR/Cas9-Based Exon Excision Approach as a Future Treatment Option for EYS-Associated Retinitis Pigmentosa
2021
Retinitis pigmentosa (RP) is an inherited retinal disease (IRD) with an overall prevalence of 1 in 4000 individuals. Mutations in EYS (Eyes shut homolog) are among the most frequent causes of non-syndromic autosomal recessively inherited RP and act via a loss-of-function mechanism. In light of the recent successes for other IRDs, we investigated the therapeutic potential of exon skipping for EYS-associated RP. CRISPR/Cas9 was employed to generate zebrafish from which the region encompassing the orthologous exons 37-41 of human EYS (eys exons 40-44) was excised from the genome. The excision of these exons was predicted to maintain the open reading frame and to result in the removal of exactl…
Tematica romanzesca o topoi letterari di lunga durata?
2003
Il saggio analizza i nessi con le origini e le metamorfosi del romanzo sia di alcuni arcitemi di lunga durata, sia di temi e topoi più legati a epoche specifiche. The essay analyzes the most lucky and lasting literary themes, and tries to explain their success' reasons
Luogo di sosta al Largo delle Grotte
2020
Testo di presentazione e progetto architettonico realizzato nell’ambito di una ricerca interdipartimentale sul centro storico di Caltabellotta. L’intervento riguarda la sistemazione di un’area scenografica della città in cui i temi della natura e dell’archeologia vengono interpretati e restituiti da una soluzione architettonica.
Sine cura. Verso il ri-ciclo dell'architettura del secondo Novecento
2019
Gli argomenti discussi nel saggio interrogano il destino che il Codice dei Beni Culturali (2004- 2011) determina per le opere del secondo Novecento. Nella costruzione del futuro di questi manufatti, che per funzione, tecnologia e cicli d’uso sono spesso segnati dall’obsolescenza e dall’abbandono, le ambiguità e le incongruenze delle attuali procedure legislative sollecitano profondamente il ruolo culturale delle esperienze di ricerca che usano metodologie meta progettuali. Il confronto fra alcuni casi italiani ed altri europei rimarca il ruolo del progetto nella costruzione di una prospettiva di tutela trasformativa per il costruito del secondo Novecento. Nel quadro di azione marcato dall’o…
Il tarantismo in Sicilia
2017
Il testo prende in esame il complesso di materiali editi e inediti (fonti storiche e archivistiche, documenti musicali, testimonianze etnografiche) che attestano la presenza del tarantismo in Sicilia dalla metà del Seicento alla fine dell’Ottocento. Il caso siciliano viene quindi inquadrato nell’ambito dell’ampia letteratura che ruota intorno al fenomeno, a partire dal classico studio di Ernesto De Martino fino al dibattito sull’interpretazione del fenomeno fra i poli dell’esorcismo e della possessione, dovuto soprattutto all’etnomusicologo francese Gilber Rouget. L’analisi viene quindi estesa alla tradizione dei guaritori dei morsi di serpenti (i ciaràuli), che con il tarantismo condividon…
Mapping 123 million neonatal, infant and child deaths between 2000 and 2017
2019
Since 2000, many countries have achieved considerable success in improving child survival, but localized progress remains unclear. To inform efforts towards United Nations Sustainable Development Goal 3.2—to end preventable child deaths by 2030—we need consistently estimated data at the subnational level regarding child mortality rates and trends. Here we quantified, for the period 2000–2017, the subnational variation in mortality rates and number of deaths of neonates, infants and children under 5 years of age within 99 low- and middle-income countries using a geostatistical survival model. We estimated that 32% of children under 5 in these countries lived in districts that had attained ra…