IRIS Università degli Studi dell'Aquila
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CDK13‐Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management
Get PDFIdentificazione di nuovi meccanismi coinvolti nella disfunzione dell’Epitelio Pigmentato Retinico come bersagli terapeutici per la Degenerazione Maculare Legata all’Età.
No full textThis project take place in a research field that aims to deepen the knowledge of human retinal degenerations. In this wide field, the present study focuses on the study of AMD, which is considered a multifactorial disorder caused by both environmental and genetic risk factors. AMD incidence increases with age, and it is going to raise dramatically due to life expectancy increase in the modern age. In fact, according to the World Health Organization (WHO), over two billion people worldwide suffer from vision-related problems. AMD could be classified into two main forms with different features: dry AMD and wet (or exudative) AMD. The available therapies to date are not resolutive; thus, the research on this topic is continuously evolving to find new targets for the development of effective treatments. During AMD, retinal antioxidant machinery is impaired, leading to oxidative stress burden, which is therefore considered one of the main risk factors for this pathology. In this project, we focused our attention on the degenerative events occurring in the Retinal Pigment Epithelium (RPE) during AMD and the analysis of possible protective molecules. RPE plays a key role in the maintenance of retinal homeostasis through its several functions; however, during AMD, oxidative stress triggers several RPE alterations which culminate in a failure of RPE performance and its consequent degeneration. On these bases, here we investigated the potential protective outcomes of Curcumin and L-DOPA on RPE cells challenged with oxidative stress. Both these molecules have already shown protective effects against retinal degenerations; thus, we aimed at identifying new mechanisms of action of these molecules. We analysed two main aspects linked to RPE dysfunction during AMD: cellular homeostasis and melanogenesis. In particular, we provided new understanding on the dose-dependent role of Curcumin; We found that low concentrations maintain RPE cells homeostasis while high concentrations caused a harmful stimulus to the cells, inducing proliferation arrest and autophagy activation. These data support the application of Curcumin for ocular pathologies characterized by different features. Furthermore, we identified a new mechanism of action of curcumin, demonstrating that the low concentrations prevented oxidative stress-induced cell death by inhibiting the activity of SIRT1, an enzyme involved in AMD progression. In the second part of the project, we evaluated the role of L-DOPA on cellular homeostasis and melanogenesis. L-DOPA was able to prevent oxidative stress-induced cell death, acting on different pathways including mitochondrial homeostasis and autophagy. We demonstrated that the protective effect of L-DOPA is related to the activation of its specific receptor on RPE cells, GPR143, as also demonstrated by Intracellular Calcium increase. Furthermore, the activation of GPR143 by L-DOPA induced a downstream event related to the the modulation of Vascular Endothelial Growth Factor (VEGF) and Pigmented Epithelium-derived factor (PEDF), the main growth factors involved in RPE function. L-DOPA administration was also associated with the up-regulation of Tyrosinase, demonstrating the role of L-DOPA in enhancing melanogenesis process. In the last part of this project, through an in silico study, we also provided evidence of the interaction of L-DOPA with another receptor involved in melanogenesis, Melanocortin 1 receptor (MC1R). All together, these results provided new understanding of RPE degenerative events caused by oxidative stress and underlined new mechanisms of action of Curcumin and L-DOPA, two promising molecules for the treatment of AMD
Experimental testing of school furniture designed with life-saving functions in case of earthquakes
Get PDFThis study explores newly developed furniture working as protective elements in the case of seismic events causing damage in buildings. Attention is given to a school classroom where desks and shelving units are the typical furniture adopted. School desks aim to protect against falling ceiling debris, while shelving units are intended to prevent damage to and overturning of partition walls. Previous designs for desks were costly and impractical, whereas shelving units received minimal attention beyond stronger wall connections to partition walls that, however, might be critical during earthquakes, as they can sustain early damage, posing risks even during moderate seismic events. The article outlines the initial structural concepts, preliminary analyses, full-scale prototypes, and experimental tests under extreme conditions. Differently from other proposals that can be found browsing internet, the solutions illustrated and tested in this study use elements of dimensions similar or even smaller to those of traditional school furniture, resulting in weights and costs that are comparable to current industrial productions in the market. The results from this study are expected to provide a novel perspective and design approach for school furniture design in seismic zones, contributing to the broader field of disaster risk reduction and resilience planning in educational environments
Un progetto di welfare culturale: il sito archeologico di Amiternum
No full textIn 2020, the University of L’Aquila acquired the archaeological site of Amiternum, near the city
of L’Aquila. This paper presents the activities carried out by an interdisciplinary group focused
on education, research, and public engagement, aimed at promoting cultural welfare. In
particular, it introduces the preliminary study for the creation of perspective overlays-graphic
illustrations produced on transparent supportsdesigned to aid in the interpretation of the
archaeological site under investigation.Nel 2020 l’Università degli Studi dell’Aquila ha acquistato il sito archeologico di Amiternum,
presso la città dell’Aquila. Il contributo presenta le attività condotte da un gruppo interdisciplinare orientate alla didattica, ricerca e public engagement, volte ad obiettivi di welfare culturale. In
particolare viene presentato lo studio preliminare alla realizzazione di sovrapposizioni prospettiche, ovvero illustrazioni grafche realizzate su un supporto trasparente funzionali all’interpretazione del sito archeologico oggetto di studio
The fNIRS glossary project: a consensus-based resource for functional near-infrared spectroscopy terminology
Get PDFSignificance: A shared understanding of terminology is essential for clear scientific communication and minimizing misconceptions. This is particularly challenging in rapidly expanding, interdisciplinary domains that utilize functional near-infrared spectroscopy (fNIRS), where researchers come from diverse backgrounds and apply their expertise in fields such as engineering, neuroscience, and psychology. Aim: The fNIRS Glossary Project was established to develop a community-sourced glossary covering key fNIRS terms, including those related to the continuous-wave (CW), frequency-domain (FD), and time-domain (TD) NIRS techniques. Approach: The glossary was collaboratively developed by a diverse group of 76 fNIRS researchers, representing a wide range of career stages (from PhD students to experts) and disciplines. This collaborative process, structured across five phases, ensured the glossary's depth and comprehensiveness. Results: The glossary features over 300 terms categorized into six key domains: analysis, experimental design, hardware, neuroscience, mathematics, and physics. It also includes abbreviations, symbols, synonyms, references, alternative definitions, and figures where relevant. Conclusions: The fNIRS glossary provides a community-sourced resource that facilitates education and effective scientific communication within the fNIRS community and related fields. By lowering barriers to learning and engaging with fNIRS, the glossary is poised to benefit a broad spectrum of researchers, including those with limited access to educational resources
Traumi Collettivi e Vulnerabilità Psicosociali: Analisi dell'Impatto sulle donne e sui giovani adulti e ruolo degli interventi digitali
Get PDFIn recent years, global population have been directly or indirectly affected by traumatic events, such as COVID-19 pandemic, the Ukraine war or the Israeli Palestinian conflict. These events, along with natural disasters (e.g., the 2009 L'Aquila earthquake) and socio-economic crises (e.g., relative to the migration phenomenon) are involved in the generation of the so called “collective traumas”. Collective trauma is a complex and widespread phenomenon that impacts both social and individual dynamics, often disrupting community cohesion and particularly affecting vulnerable groups. This thesis focuses specifically on two populations: women and young adults. Women are particularly vulnerable to psychosocial distress due to higher exposure to gender-based violence and caregiving burdens. These factors, when in the context of a crisis, increase the risk of negative psychological outcomes. Similarly, adolescents and young adults, as they navigate crucial stages of identity, personal, and professional development, also face significant challenges in developing resilience in the aftermath of trauma.
This thesis aims to explore the interaction between collective traumas and psychosocial vulnerability within these populations, through a review of the literature and studies in which the author has participated. Protective factors and available resources will also be examined, to identify effective intervention strategies. Additionally, the role of digital interventions in mitigating the effects of collective trauma will be discussed as digital platforms have proven to be essential tools facilitating access to care. This thesis moreover presents the results of a two-yearsresearch evaluating online interventions conducted at the "Listening and Consultation Service for Students" (SACS) at the University of L'Aquila, as well as a narrative review aimed at assessing the use of gamification and Augmented Reality and Virtual Reality technologies to enhance compliance with digital treatments. In summary, this thesis provides a comprehensive understanding of the complexities of collective trauma and psychosocial vulnerabilities, particularly in women and young adults, while highlighting digital interventions as a pathway to overcome barriers to mental health care access
Transcriptome-Wide Analysis of Brain Cancer Initiated by Polarity Disruption in Drosophila Type II Neuroblasts
Get PDFBrain tumors, in particular gliomas and glioblastoma multiforme (GBM), are thought to originate from different cells facing specific founding insults, a feature that partly justifies the complexity and heterogeneity of these severe forms of cancer. However, gliomas and GBM are usually reproduced in animal models by inducing molecular alterations in mature glial cells, which, though being part of the puzzle, do not represent the whole picture. To fill this conceptual gap, we previously developed a neurogenic model of brain cancer in Drosophila, demonstrating that the loss of cell polarity in neural stem cells (called neuroblasts in the fruit fly) is sufficient to promote the formation of malignant masses that continue to grow in the adult, displaying several phenotypic traits typical of human GBM.
Here, we expand on previous work by restricting polarity disruption to Drosophila type II neuroblasts, whose self-renewal is comparable to that of mammalian neural progenitors, with the aim to capture the molecular signature of the resulting cancers in a specific and reproducible context. A comparison of the most deregulated transcripts with those found in human primary GBMs confirmed that our model can be proficiently used to delve into the roots of human brain tumorigenesis
Risk of Gaming Disorders in Adolescents: A Multiperspective Framework for Video Games Development
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Persistence of anemia in patients with Celiac disease despite a gluten free diet: a retrospective study
Get PDFBackground: The main treatment for Celiac Disease (CD) is the gluten-free diet (GFD). However, in some CD patients, iron deficiency anemia can be persistent despite a GFD. Aim: In this study, we aim to evaluate the prevalence of anemia in both adults and children with CD at the diagnosis and during the GFD. Methods: In this cross-sectional study including both adults and children with CD, the demographic characteristics and hemoglobin, iron, folate and vitamin B12 levels were retrospectively retrieved from patients’ medical records at the time of diagnosis (T0); after 3–5 years (T1) and after 8–10 years (T2) of GFD. Results: 311 CD patients (184 adults and 127 pediatric patients) were included in the study. No difference was observed in the prevalence of anemia in the overall population after 3–5 years of GFD in both adult and pediatric patients compared to the diagnosis. At 8–10 years, in the adult patient’s group, a significant reduction in the prevalence of anemia was observed (24% vs. 17.8% p = 0.043). Conclusions: Despite the GFD and a very long observational period the diagnosis of anemia persists in 17.8% and 4.4% of adult and pediatric patients, respectively. The diagnostic delay (longer in adult patients) and a more pronounced ultrastructural mucosal injury could play a role in the persistence of anemia despite the GFD