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PubblicazioneLa sospensione, l’interruzione e l’estinzione del processo(Giappichelli, 2023)Il contributo analizza gli istituti della sospensione, della interruzione e della estinzione del processo amministrativo.
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PubblicazioneSTUDY OF TRIM18/MID1 UBIQUITIN LIGASE IN THE CONTROL OF PROTEIN HOMEOSTASIS(Università degli Studi di Trieste, )Le proteine TRIM rappresentano una famiglia di E3 ubiquitina ligasi, mediatori del trasferimento dell’ubiquitina da un enzima E2 alla proteina bersaglio, promuovendone l’ubiquitinazione. Queste proteine hanno attirato notevole interesse per il loro coinvolgimento in numerose patologie e processi cellulari. In questo progetto, il nostro modello di studio è TRIM18/MID1, principalmente associato a un disordine genetico noto come sindrome di Opitz G/BBB, una rara malattia genetica caratterizzata da anomalie dello sviluppo della linea mediana e disabilità intellettiva. L’obiettivo di questo progetto è investigare il comportamento di MID1/TRIM18 in condizioni di stress cellulare, al fine di comprendere come differenti stimoli possano influenzarne la localizzazione, la capacità di far parte di complessi ribonucleoproteici (RiboNucleoProtein complexes, RNPs) e l’attività di questa E3 ubiquitina ligasi, analizzando sia la forma wild-type sia varianti mutanti a singolo residuo o mutanti di delezione. Diversi studi hanno dimostrato che le proteine TRIM sono componenti di complessi ribonucleoproteici, grazie alla loro capacità di legare specifiche sequenze e strutture di RNA. Sulla base di queste evidenze e di risultati preliminari ottenuti nel nostro laboratorio, lo scopo di questo studio è comprendere come TRIM18/MID1 regoli la sintesi e la degradazione proteica localizzata attraverso la formazione di complessi RNP e biocondensati non delimitati da membrana. Nel mio lavoro ho dimostrato che la specifica localizzazione intracellulare di MID1/TRIM18, associata ai microtubuli, può essere alterata da mutazioni patologiche. In particolare, ho osservato che una mutazione puntiforme nel dominio catalitico RING della proteina, identificata in un paziente affetto da XLOS, che comporta la sostituzione della cisteina in posizione 56 con un’arginina, ha un forte impatto sulla localizzazione di MID1. Inoltre, con l’obiettivo di comprendere se la localizzazione dinamica di MID1 possa variare in relazione allo stato fisiologico della cellula, sono state indotte diverse condizioni di stress cellulare per dimostrare che la localizzazione intracellulare di MID1 può essere influenzata da differenti stimoli esterni. Attraverso questo screening, abbiamo osservato che l’arsenito di sodio e la puromicina causano il distacco di MID1/TRIM18 dai microtubuli. In particolare, il trattamento con arsenito di sodio induce l’aggregazione di MID1 in corpi citoplasmatici, comparabili per dimensioni e dinamica ai granuli di stress canonici, pur non facendone parte. Al contrario, dopo trattamento con puromicina, la proteina si distacca dai microtubuli e diffonde nel citoplasma. Tutti questi esperimenti sono stati condotti utilizzando sia la forma wild-type di MID1 sia la mutazione patologica sopra descritta, oltre a un mutante artificiale privo dell’intero dominio catalitico RING, al fine di comprendere se l’alterazione dell’attività della proteina possa modificare anche la risposta agli stressori. Questi dati contribuiranno ad ampliare la nostra conoscenza sul ruolo della proteina MID1 e, potenzialmente, sull’impatto patologico delle sue forme mutate associate alla XLOS.
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PubblicazioneGlobal, regional, and national burden of breast cancer among females, 1990–2023, with forecasts to 2050: a systematic analysis for the Global Burden of Disease Study 2023( 2026)Background: Breast cancer is a leading cause of mortality and morbidity among females worldwide. As part of the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2023, we provided an updated comprehensive assessment of the epidemiological trends, disease burden, and risk factors associated with breast cancer globally, regionally, and nationally from 1990 to 2023. Methods: Breast cancer incidence, mortality, prevalence, years lived with disability (YLDs), years of life lost (YLLs), and disability-adjusted life-years (DALYs) were estimated by age and sex for 204 countries and territories from 1990 to 2023. Mortality estimates were generated using GBD Cause of Death Ensemble models, leveraging data from population-based cancer registration systems, vital registration systems, and verbal autopsies. Mortality-to-incidence ratios were calculated to derive both mortality and incidence estimates. Prevalence was calculated by combining incidence and modelled survival estimates. YLLs were established by multiplying age-specific deaths with the GBD standard life expectancy at the age of death. YLDs were estimated by applying disability weights to prevalence estimates. The sum of YLLs and YLDs equalled the number of DALYs. Breast cancer burden attributable to seven risk factors was examined through the comparative risk assessment framework. The GBD forecasting framework was used to forecast breast cancer incidence and mortality from 2024 to 2050. Age-standardised rates were calculated for each metric using the GBD 2023 world standard population. Findings: In 2023, there were an estimated 2·30 million (95% uncertainty interval [UI] 2·01 to 2·61) breast cancer incident cases, 764 000 deaths (672 000 to 854 000), and 24·1 million (21·3 to 27·5) DALYs among females globally. In the World Bank low-income group, where a low age-standardised incidence rate (ASIR) was estimated (44·2 per 100 000 person-years [31·2 to 58·4]), the age-standardised mortality rate (ASMR) was the highest (24·1 per 100 000 [16·8 to 31·9]). The highest ASIR was in the high-income group (75·7 per 100 000 [67·1 to 84·0]), and the lowest ASMR was in the upper-middle-income group (11·2 per 100 000 [10·2 to 12·3]). Between 1990 and 2023, the ASIR in the low-income group increased by 147·2% (38·1 to 271·7), compared with a 1·2% (-11·5 to 17·2) change in the high-income group. The ASMR decreased in the high-income group, changing by -29·9% (-33·6 to -25·9), but increased by 99·3% (12·5 to 202·9) in the low-income group. The increase in age-standardised DALY rates followed that of ASMRs. Risk factors such as dietary risks, tobacco use, and high fasting plasma glucose contributed to 28·3% (16·6 to 38·9) of breast cancer DALYs in 2023. The risk factors with a decrease in attributable DALYs between 1990 and 2023 were high alcohol use and tobacco. By 2050, the global incident cases of breast cancer among females were forecast to reach 3·56 million (2·29 to 4·83), with 1·37 million (0·841 to 2·02) deaths. Interpretation: The stable incidence and declining mortality rates of female breast cancer in high-income nations reflect success in screening, diagnosis, and treatment. In contrast, the concurrent rise in incidence and mortality in other regions signals health system deficits. Without effective interventions, many countries will fall short of the WHO Global Breast Cancer Initiative's ambitious target of achieving an annual reduction of 2·5% in age-standardised mortality rates by 2040. The mounting breast cancer burden, disproportionately affecting some of the world's most vulnerable populations, will further exacerbate health inequalities across the globe without decisive immediate action.
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PubblicazioneBlueprint Persona and Information and Communication Technology Interventions: Addressing Unmet Needs in Burning Mouth Sindrome Care( 2025)OBJECTIVES: This study aimed to create a Blueprint Persona for Burning Mouth Syndrome (BMS) patients, focusing on Unmet needs that digital solutions can address. METHODS: An interdisciplinary focus group formulated the BMS Blueprint Persona by discussing clinical data and survey results regarding education, informatics skills, and perceived unmet needs, collected from 500 BMS patients between 2022 and 2023. RESULTS: The BMS Blueprint Persona, named Anna, represents a typical BMS patient profile: a young-old woman with limited computer skills who experiences anxiety, depression, and insomnia, has memory issues leading to medication adherence challenges, is obese due to overeating, and spends much time watching TV at home. Anna's primary concern is receiving inadequate treatment and not achieving disease remission. She also feels misunderstood and lacks family support. This persona reveals several areas where Information and Communication Technology (ICT) interventions, like telemedicine, anxiety and insomnia treatment, drug adherence improvement, and nutritional and lifestyle guidance, could be beneficial. The focus group also outlined the essential features for a prospective mHealth app to meet BMS patients' diverse needs. CONCLUSION: The development of the BMS Blueprint Persona successfully identified patient characteristics and unmet needs, offering valuable insights for creating personalized diagnostic-therapeutic pathways and digital health solutions for BMS.
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PubblicazioneRegional political systems in Italy: A story of increasing instability( 2023)After the First Republic, a growing instability has been affecting Italian politics at different levels. Most of the literature has focused on the transformation of Italian political and party systems from a national point of view; however, the analysis of regional level could be used to better understand the trajectories of instability in Italy. The paper aims to contribute to the existing literature on instability and regional politics. An analysis of national, regional and European electoral data in three different periods (First Republic, bipolar Second Republic, tripolar Second Republic) will be provided in order to assess the degree of instability of each region over time. Regional majorities are confirmed to have become increasingly unsure about their own re-election even in those territories being historically considered as parties’ strongholds at subnational level; the results of the analysis show that instability affects all regional political systems even more after the appearance of a third pole (the Movimento 5 Stelle – M5S) in 2013, with the only exception of the Veneto region.