Bioinformatic and experimental approaches for studying pathogenic mechanisms in certain rare hereditary diseases

Elucidating the pathogenic mechanisms of rare hereditary diseases remains challenging because of high genetic heterogeneity, limited patient populations, and complex molecular pathways involved. Understanding these diseases requires investigation at several levels, from identifying the causal variant to determining its effects on protein function, defining the physiological role of the protein, and characterizing the molecular pathway in which it acts. Next-generation sequencing (NGS) has sig...

GGCAT: an optimized tool for fast compacted and colored de Bruijn graph construction

De Bruijn graphs are a widely used data structure in bioinformatics, often serving as the basis for more complex analyses. In this thesis, we present a tool called GGCAT and its updated version GGCAT 2 to compute compacted and optionally colored de Bruijn graphs for DNA datasets. GGCAT outperforms other state-of-the-art tools available for this task in time, memory, and temporary disk space usage on many different kinds of data, from pangenomes to sequencing reads. This is due to a set of op...

Framing Sustainability across Languages: A Corpus-Assisted Metaphor Study of British and Italian Newspaper Discourse

This study investigates the metaphorical framings of sustainability in British and Italian newspaper discourse through a comparable bilingual corpus analysis. Drawing on Conceptual Metaphor Theory (Lakoff & Johnson, 1980), Critical Metaphor Analysis (Charteris-Black, 2004), and the scenario-based approach (Musolff, 2006, 2016b), the analysis examines a corpus of 1,664,644 tokens compiled from eight national outlets: Financial Times, The Guardian, The Independent, The Telegraph, Il Sole 24...

Preservation, Characterization, and Bioremediation Potential of Microbiomes from PFAS-impacted Soil and Sediment

Le sostanze poli- e perfluoroalchiliche (PFAS) sono inquinanti ambientali persistenti, bioaccumulabili e tossici che compromettono gli ecosistemi e la salute umana. Gli approcci fisico-chimici tradizionali, come la filtrazione e l’adsorbimento (ad esempio mediante carbone attivo), comportano generalmente costi elevati, un significativo consumo energetico e possibili impatti ambientali secondari, inclusa la formazione di PFAS a catena più corta. Pertanto, la bioremediation può essere considera...

Economic Sanctions in International Commercial Arbitration

Digital engineering and 3d bioprinting for bone regeneration: an innovative software for pegda custom-made meshes ​

Questa Tesi di Dottorato si basa su una vasta esperienza clinica con mesh di titanio customizzate e su un'analisi completa del quadro scientifico contemporaneo alla base della rigenerazione ossea guidata (GBR), dell'ingegneria tissutale, della scienza dei biomateriali e delle tecnologie di produzione additiva. Oggigiorno vi è assenza di una membrana personalizzabile digitalmente, meccanicamente stabile e completamente riassorbibile, in grado di replicare le proprietà di mantenimento dello spa...

Dal Po alle Alpi. Commerci tra tardoantico e alto medioevo

An integrated approach to implement precision oncology in renal cell carcinoma (RCC): identification and validation of clinical, tissue-based, and circulating factors to refine prognosis, response prediction, and therapeutic choices.

The first-line treatment scenario of advanced Renal Cell Carcinoma (aRCC) witnessed a significant paradigm shift from vascular growth factor receptor tyrosine kinase inhibitors (VEGFR-TKIs) monotherapy to immune checkpoint inhibitors (ICIs) doublet or in combination with VEGFR-TKIs. Prognostic stratification and first-line treatment choices still rely on clinical risk scores as the IMDC, whose prognostic rather than predictive value is widely recognized. However, a substantial proportion...

The impact of maternal age and body mass index on hypertensive disorders of pregnancy: moving beyond the cut-off effect

Background: Maternal age (MA) and body mass index (BMI) are known risk factors for hypertensive disorders of pregnancy (HDP). Different threshold values are used to calculate preeclampsia risk scores, but the appropriateness of a cut point model has not been extensively evaluated. This is because the effects of both MA and BMI occur continuously. We aimed to investigate the relationship between MA, BMI, and HDP, respecting the continuous nature of the two independent variables. Material...