322590 research outputs found
Sort by
Keeping up the beat of Kleefstra syndrome
No full textLong QT syndrome (LQTS) is a rare and potentially life-threatening arrhythmia characterized by delayed repolarization on electrocardiogram (EKG) evaluation. Although LQTS is primarily associated with defects in ion channels, in approximately 20% of cases the genetic cause remains unknown. Kleefstra syndrome (KS), a rare neurodevelopmental disorder caused by alterations in the EHMT1 gene, has been associated with various cardiac abnormalities, including structural defects and arrhythmias. Here we report the second case of LQT in a patient with KS, strengthening the association between these two conditions. Although rare in KS, LQT may represent a potentially life-threatening condition that requires careful monitoring. Further, we present a detailed clinical case and a literature review on cardiac rhythm abnormalities in KS, highlighting the importance of EKG monitoring in these patients. Further studies are needed to clarify the link between EHMT1 and cardiac arrhythmias and to establish the potential role of EHMT1 in the epigenetic modulation of cardiac pacemakers. These insights may have important implications in management of patients with KS and other Mendelian disorders of epigenetic machinery (MDEMs)
Vis/NIR spectroscopy and chemometrics for enzymatic softening prediction in quince fruit
No full textBrowning and softening are critical physiological processes that affect fruit quality during postharvest storage, primarily influenced by enzymatic activity of polyphenol oxidase (PPO), peroxidase (POD), and pectin methyl-esterase (PME). Conventional enzyme activity assays are time-consuming, costly, and require chemical reagents. To address these limitations, this study employed Visible-Near Infrared (Vis/NIR) spectroscopy combined with advanced regression modeling to predict PPO, POD and PME activities in quince fruit non-destructively. Multiple linear regression (MLR), partial least squares regression (PLSR), and artificial neural network (ANN) were developed. All models provided reliable predictions (R2 > 0.92, RPD > 2.8), demonstrating the method’s robustness. To enhance model interpretability and reduce computational complexity, a novel hybrid variable selection combining decision tree (DT) optimization with eleven metaheuristic algorithms was applied to identify the most informative wavelengths. Effective-wavelengths (EWs) selected by Learning Automata (LA) and Forest Optimization Algorithm (FOA) were chosen to improve regression algorithm performance. A comparable performance was observed between full-spectrum and EW–based models. Full-spectrum models benefit from broader chemical representativeness and potentially enhanced robustness, whereas EW-based models offer clear advantages in terms of reduced dimensionality, improved interpretability, and suitability for real-time or embedded sensing applications. The methodology offers broad applicability for on-line quality control and real-time monitoring of enzymatic browning and softening in other fruit commodities, supporting improved postharvest management and reduced food losses
Microfibrillated cellulose films from agri-food wastes and plant residues for food packaging applications – A comparative investigation
No full textCellulose from three agri-waste feedstocks—giant cane, Posidonia oceanica seagrass, and coffee silverskin—was processed into aqueous dispersions (1% by weight) of microfibrillated cellulose (MFC) via high-pressure homogenization (HPH) to produce stand-alone films for potential food packaging applications. Rheology, stability, and morphology of dispersions, as well as optical, barrier, mechanical, morphological, and surface properties of the resulting films were evaluated, with Sylvicta® used as a commercial reference. Atomic Force Microscopy (AFM) confirmed successful MFC production (average diameter < 100 nm) after HPH. The dispersions showed good stability (ζ-potential < 30 mV), shear-thinning, and strong-gel behavior (G’/ G’’ ≈ 10). Regardless of cellulose source, the films performed similarly to the commercial solution, including excellent oxygen barrier properties [oxygen transmission rate < 0.01 cm3 (STP) m−2 day−1 under dry test conditions], high stiffness (Young’s modulus ≈ 7.5 GPa), tensile strength (≈ 85 MPa), and effective UV-shielding. Surface wettability differed: the commercial sample exhibited a higher contact angle (≈ 115°) than the prepared films (≈ 55–95°). Nonetheless, all samples showed initial spreading of the water droplet followed by absorption. This study demonstrates the potential of valorizing agri-food waste and plant residues into sustainable, high-performance cellulosic films for food packaging. The approach supports circular economy strategies and helps reduce the environmental impact of plastics
Expression patterns of fibroblast activation protein and extra-domain B fibronectin in canine malignant tumors
No full textIntroduction: Fibroblast activation protein (FAP) is involved in the extracellular matrix (ECM) remodeling and wound healing. Absent in most adult tissues, it is overexpressed by neoplastic cells and/or cancer-associated fibroblasts (CAFs) in several human malignancies. The extra Domain-B of fibronectin (EDB+FN) is a splice variant of fibronectin involved in angiogenesis and tissue remodeling, overexpressed by CAFs and cancer-associated vessels (CAVs) in many aggressive human tumors. This study aims to investigate FAP and EDB+FN expressions in canine tumors and assess their potential as druggable targets in animal patients. Methods: FAP and EDB+FN expression was assessed by immunohistochemistry on 88 canine tumors, including Soft Tissue Sarcomas [STS], Osteosarcomas [OSA], Hemangiosarcomas [HSA], Apocrine Gland Anal Sac Adenocarcinomas [AGASAC], Mast Cell Tumors [MCT], Lymphomas, and Melanomas, using polyclonal and monoclonal anti-FAP and the L19 anti-EDB antibodies. Expression distribution and intensity were semi-quantitatively scored in neoplastic cells, CAFs, CAVs, and stroma. Results: FAP was variably expressed in neoplastic cells (79/88), CAFs (79/88), and CAVs (82/88) across all tumor types, but mostly in AGASACs, STSs, and MCTs. The monoclonal antibody presented greater specificity. EDB+FN expression was less present across tumor types, mostly with a vascular staining pattern. Labelling was most intense and consistent in the neoplastic cells, CAFs, and CAVs of melanomas, and to a lesser extent in AGASAC and STS. Discussion: STS, AGASAC, and MCT could be candidates for FAP-targeted strategies; melanomas are the most promising for EDB+FN-directed therapies. These results support FAP and EDB+FN as targets worth investigating for clinical applications in animal patients
Biophysical Signatures of IGLV1-44 Light Chains in AL, POEMS, and MM: Uncovering Pathogenic Determinants
No full textOverexpression of immunoglobulin light chains (LCs) is observed in various diseases, including Multiple Myeloma (MM), Light Chain Amyloidosis (AL), and POEMS syndrome. LCs play different pathological roles across these
conditions, leading to distinct clinical manifestations. In AL, circulating LCs may either aggregate and deposit as amyloid fibrils in various organs or cause cardiotoxicity in their soluble form. In contrast, POEMS syndrome is
characterized by poorly understood toxic effects of LCs, even in the absence of fibril formation. In MM, however, LCs do not exhibit toxic effects despite their abundant presence in circulation. Due to genetic rearrangement and somatic
hypermutation, each patient expresses unique LC sequences. Nonetheless, certain germline genes are more frequently represented. Notably, the IGLV1-44 gene is commonly observed in patients with MM, AL, and POEMS, encoding
LCs that, despite sharing high structural similarity and approximately 85% sequence conservation, display different pathological behaviors and associated clinical outcomes. To date, the specific sequence patterns responsible for LC
pathogenicity remain unidentified, hindering the establishment of a reliable sequence–disease correlation. Such a correlation would be valuable for early diagnosis and the development of potential LC-targeting therapies. In this
context, this project aims to perform a comprehensive biophysical analysis of a large set of IGLV1-44 LCs derived from AL and POEMS patients, to identify characteristic biophysical features within each group. In parallel, four non-toxic
IGLV1-44 LCs from MM patients will be analysed as a reference for comparison with toxic LCs. To this end, LCs from AL, POEMS, and MM patients have been recombinantly purified and biophysically characterized to assess and
compare their thermodynamic and kinetic stability, f lexibility, and susceptibility to proteolysis. Overall, this study will support the correlation of specific IGLV1-44 germline mutations with LC overproduction-related diseases, offering
new perspectives for diagnosis and therapeutic development
FANFIK. RUSSIAN FANFICTION FROM ITS ORIGINS TO THE CONTEMPORARY ERA
No full textLa fanfiction (o fan fiction, testo letterario scritto da un “fan” che utilizza personaggi o ambientazioni tratti da un’opera precedente per produrre una storia nuova e condividerla all’interno di una comunità di altri fan) è stata studiata come fenomeno letterario e sociale fin dagli anni ’70. Tuttavia, l’attenzione degli studiosi è stata concentrata quasi esclusivamente su testi in lingua inglese e condivisi in un contesto sovranazionale, ignorando le specifiche origini culturali di autori e scrittori e tralasciando comunità non anglofone. Lo scopo di questa ricerca è far luce sul fenomeno delle fanfiction in lingua russa condivise in uno spazio russofono e culturalmente post-sovietico, ricostruendo la storia delle comunità (fandom) che hanno preso parte alla creazione e diffusione di fanfiction russe in epoca tardo- e post-sovietica.
Attraverso la costruzione di un corpus di testi esemplificativi delle principali correnti tematiche e narrative durante le varie fasi dell’evoluzione della fanfiction russa, dal cartaceo al digitale, e l’analisi dei suddetti testi applicando le teorie dei fan studies nel contesto russofono, questa ricerca mira a restituire un’immagine completa e articolata delle principali comunità di fan russofone e delle convenzioni, regole, e caratteristiche che definiscono il fenomeno della fanfiction russa come parte del più ampio fenomeno sovranazionale, ma caratterizzato da specificità derivate dal particolare contesto storico e culturale russo.
L’analisi dei testi selezionati, di alcune riviste letterarie amatoriali (fanzine), e delle principali piattaforme digitali per la condivisione di fanfiction, ha permesso di descrivere le principali caratteristiche del fenomeno sottolineando similitudini e differenze rispetto alle corrispondenti comunità anglofone. I principali risultati della ricerca hanno sottolineato l’importanza della connessione tra fanfiction e sistema editoriale tradizionale nel contesto russo e in relazione alle leggi sul diritto d’autore; le principali dinamiche che caratterizzano le piattaforme digitali utilizzate dai fan, le regole e strutture che le governano, e la rinegoziazione dei ruoli di autore e lettore che avviene nel contesto di queste comunità; la rilevanza del fenomeno della fanfiction come esperienza di self-publishing che sfugge alla censura politica incoraggiata
dall’attuale governo nel contesto dell’editoria tradizionale, specialmente quando tratta di tematiche legate all’ambito queer.
Questa ricerca si è posizionata nel contesto dei fan studies fornendo una prospettiva nuova e culturalmente specifica, dimostrando che, pur facendo parte dello stesso fenomeno sovranazionale ed essendo inserita nel contesto democratico e senza confini geografici del Web, la fanfiction russa mantiene comunque delle caratteristiche separate e specifiche del contesto russofono, riconducibili alle eredità della storia tardo- e post-sovietica e alla cultura russa contemporanea.Fanfictions (or fan fictions, literary texts written by “fans” who use characters or settings from pre-existing works to produce new stories and share them within a community of other fans) has been studied as a literary and social phenomenon since the 1970s. However, scholars' attention has been focused almost exclusively on texts in English and shared in a supranational context, ignoring the specific cultural origins of authors and writers and overlooking non-English-speaking communities. The aim of this research is to shed light on the phenomenon of Russian-language fanfiction shared in a Russian-speaking and culturally post-Soviet space, reconstructing the history of the communities (fandoms) that took part in the creation and dissemination of Russian fanfiction in the late and post-Soviet era.
Through the construction of a corpus of texts exemplifying the main thematic and narrative trends characterising Russian fanfiction throughout the various stages of its evolution, from print to digital, and the analysis of these texts by applying fan studies theories in the Russian-speaking context, this research aims to provide a comprehensive and detailed picture of the main Russian-speaking fan communities and the conventions, rules, and characteristics that define the phenomenon of Russian fanfiction as part of the broader supranational phenomenon, but characterised by specificities derived from the particular Russian historical and cultural context.
The analysis of selected texts, some amateur literary magazines (fanzines), and the main digital platforms for sharing fanfiction was used to describe the defining characteristics of the phenomenon, highlighting similarities and differences with respect to the corresponding English-speaking communities. The main results of this research have highlighted the importance of the connection between fanfiction and the traditional publishing system in the Russian context and in relation to copyright laws; the main dynamics that characterise the digital platforms used by fans, the rules and structures that govern them, and the renegotiation of the roles of author and reader that takes place in the context of these communities; the relevance of the phenomenon of fanfiction as a self-publishing experience that escapes the political censorship encouraged by the
current government in the context of traditional publishing, especially when it comes to issues related to the queer sphere.
This research has positioned itself within the context of fan studies by providing a new and culturally specific perspective, demonstrating that, despite being part of the same supranational phenomenon and being embedded in the democratic and borderless context of the web, Russian fanfiction nevertheless retains characteristics that are separate and specific to the Russian-speaking context, that may be attributed to the legacy of late and post-Soviet history and contemporary Russian culture
Revisiting Minamata disease through computational phenotypic similarity analysis
No full textMinamata disease, a severe neurological disorder caused by methylmercury exposure in 1950s Japan, is historically recognized for its profound impact on environmental health awareness. However, its phenotypic complexity and potential overlap with other neurological disorders have not been systematically assessed in a modern computational framework. In this study, we adopt a network approach to reinterpret Minamata disease within a broader disease similarity landscape. We mapped clinical symptoms from an extensive epidemiological survey of 269 Minamata patients to standardized Human Phenotype Ontology (HPO) terms, constructing a comprehensive phenotypic profile. Using network-based and computational similarity measures-Jaccard Index, ontology-informed metrics (Resnik and GraphIC), and information retrieval techniques (TF-IDF with query expansion), we compared this profile to over 12,000 diseases. Our results consistently identified strong phenotypic ties between Minamata disease and several movement and neurodegenerative disorders, including cyanide-induced parkinsonism and progressive supranuclear palsy. A weighted rank aggregation across methods revealed a robust consensus network of diseases with overlapping symptomatology, underscoring the systemic nature of these complex neurological disorders. Our study highlights the utility of integrating historical epidemiological data with contemporary network tools to reveal novel associations between environmental exposures and systemic pathophysiological responses. Our findings provide a blueprint for exploring environmentally triggered disease mechanisms and their broader implications for network-based understanding of human disease
Exploring farmer sentiment and decision-making on circular agricultural practices adoption in Europe: Evidence from Italy, Norway and the UK
No full textTransitioning towards more circular farming systems, which prioritise using renewable and recycled resources to reduce reliance on external inputs, offers potential to improve nutrient cycling, enhance farm profitability and mitigate greenhouse gas emissions. However, widespread adoption remains limited. To support the wider adoption of circular farming practices across diverse rural and agroecological settings, we examined how psychological, contextual and motivational factors shape farmers’ sentiment and decision-making. A mixed-methods approach—combining sentiment and thematic analysis—was applied to interviews and focus groups with 96 farmers and industry stakeholders across Italy, Norway and the UK. Sentiment towards circular farming practices varied across national contexts, with UK farmers expressing more positive views overall than Norwegian farmers, and Italian farmers positioned in between. These differences reflected how well practices aligned with existing knowledge, values and farming systems, while negative sentiment was primarily associated with policy impracticalities, investment costs and local constraints, highlighting key political and structural barriers to adoption. The findings underscore the need to align circular strategies with local contexts. To support wider adoption, we recommend (1) enhancing psychological capability (e.g. aligning practices with farmers’ knowledge): through a flexible ‘toolbox’ of practices; (2) addressing physical opportunity barriers via co-designed, locally-adapted policies; and (3) strengthening reflective motivation by communicating and deliberating the broader co-benefits of circular practices. These informed insights provide more effective and inclusive strategies for sustainable agriculture and rural development across Europe
Water and energy savings using variable rate sprinkler irrigation on a large maize farm in northern Italy
No full textMaize is a key crop both globally and in Italy. In the Po Valley, it is cultivated on 500,000 ha, primarily for use in livestock production. Here, maize cultivation is highly dependent on irrigation, traditionally performed using border irrigation. However, due to increasing water scarcity, more efficient irrigation strategies will be required in the future. This study develops and tests an innovative integrated framework combining soil characterisation, in-field monitoring devices, agro-hydrological modelling and remote sensing to save water and energy. In 2021, a variable rate (VR) irrigation strategy was implemented in a 15-ha center pivot in a large livestock farm in northern Italy using: i) soil mapping based on an electromagnetic induction (EMI) sensor to delineate homogeneous zones, ii) a modelling workflow coupling soil moisture probes and weather forecasts to determine irrigation timing and amounts, and iii) a speed-controlled pivot for spatially variable application. This approach reduced water and energy use by 20 %, while maintaining yield and reducing grain moisture at harvest, although operational constraints imposed by the tenant limited the achievable savings. The framework was then scaled up to the entire farm for the 2016–2021 period using a semi-distributed agro-hydrological model supported by remote sensing data. Simulations indicated a mean reduction of 19 % in irrigation and energy use, consistent with field results. Overall, the developed modelling framework proved to be effective in optimizing irrigation and can be transferred to other crop-growing areas relying on sprinkler systems
Povertà e misure di sostegno al reddito nell’età anziana
No full textThis study examines policies aimed at combating poverty and providing income support for older persons. Drawing on the relevant constitutional framework, it analyses the role of the European Union, with particular attention to the principles and guidelines set forth in the European Pillar of Social Rights. The paper then explores the measures introduced by the Italian legislature in recent years, ranging from the “Citizenship Pension” to the “Inclusion Allowance”. Within this framework, the impact of the National Recovery and Resilience Plan (NRRP/PNRR) is assessed in light of its implementation. Finally, the study identifies certain limitations of the measures adopted in addressing social exclusion among older people