University of Modena and Reggio Emilia
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Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study
No full textChronic kidney disease (CKD) has a genetic origin in 10% of patients. The most effective and cost-beneficial genetic testing methodology is debated. A multicenter, retrospective analysis of 692 patients with panel genetic testing (44 genes) evaluated the diagnostic yield, independent predictors of genetic diagnoses, and clinical impact. Diagnostic variants identified totaled 252, resulting in a 36% yield. The highest yields were associated with cystic disease (49%). No diagnostic variants were identified in unknown CKD. Independent clinical predictors of diagnosis were clinical presentation, family history, and early disease onset. Genetic diagnoses confirmed clinical suspicion in 70%, defined the diagnosis in 23%, and altered clinical diagnosis in 7%. Despite study limitations, a 44 gene panel seems to have a similar diagnostic yield as larger panels and whole-exome sequencing (WES) approaches. Patient selection based on independent predictors of genetic diagnosis may further increase diagnostic yield and cost-effectiveness, especially useful in cost-restricted contexts
Use of a humanoid robot to reduce distress in autistic children undergoing paediatric cardiology visits: a pilot study
No full textChildren with autism spectrum disorder (ASD) often experience distress during medical procedures due to sensory sensitivities and communication challenges. We conducted a pilot study assessing whether a humanoid robot (NAO) could reduce distress during cardiology assessments. 24 children with ASD were evaluated during NAO-assisted visits. Distress levels were significantly lower compared with previous routine non-robot-assisted visits involving the same patients. Reduced motion artefacts and shorter diagnostic procedures were also observed. These results support the feasibility and potential benefit of integrating social robots into outpatient paediatric settings for patients with autism, paving the way for more inclusive and neurosensitive healthcare experiences
Dalla complessità alla comprensione nella ricerca alimentare e ambientale attraverso approcci non mirati e analisi avanzata dei dati
No full textL’analisi untargeted si riferisce alla rilevazione completa di tutti i componenti rilevanti presenti in un campione, senza conoscenze a priori sulla loro struttura chimica. Nonostante l’elevato potenziale, questo approccio rimane complesso a causa delle limitazioni legate alla preparazione del campione, alla gestione dei dati e alla mancanza di standardizzazione. La preparazione del campione è una fase cruciale che influisce sulla qualità dei dati. Le matrici alimentari e ambientali contengono sostanze interferenti che possono causare effetti matrice, ridurre il recupero degli analiti e la sensibilità. Le procedure di estrazione e isolamento, spesso prive di linee guida, possono provocare degradazione, perdita di analiti, alterando il rapporto segnale/rumore e compromettendo accuratezza e riproducibilità. L’enorme quantità di dati generata dalle analisi untargeted, spesso dell’ordine di gigabyte, come nella cromatografia liquida accoppiata a spettrometria di massa ad alta risoluzione (LC–HRMS), rende l’elaborazione uno degli stadi più critici. Errori nelle prime fasi di estrazione o allineamento delle feature possono propagarsi lungo l’intero workflow, riducendo la riproducibilità e la qualità interpretativa. A causa dell’elevata dimensionalità, la riduzione è indispensabile ma deve preservare le informazioni chimiche significative. Il rumore casuale genera falsi positivi, mentre la scarsa coerenza tra software e la mancanza di procedure armonizzate portano a una limitata sovrapposizione delle feature e a bassa comparabilità tra studi. Una criticità deriva dalla propagazione degli errori computazionali e dalla natura “black-box” di molti strumenti di elaborazione. Gli algoritmi di rilevamento dei picchi, allineamento e deconvoluzione dipendono da numerosi parametri difficili da ottimizzare, con risultati talvolta incoerenti e scarsa trasparenza. Anche minime variazioni possono modificare significativamente il dataset finale; per questo la validazione dei workflow è essenziale per garantire affidabilità analitica. Questa tesi affronta tali problematiche attraverso lo sviluppo e la valutazione critica di workflow untargeted, comprendenti sia l’acquisizione sia l’elaborazione dei dati. Sono state ottimizzate le condizioni di estrazione e strumentali per l’analisi metabolomica mediante design sperimentale, con attenzione alla definizione di risposte multivariate adeguate. Metodologie avanzate di elaborazione, come l’approccio Region of Interest–Multivariate Curve Resolution (ROI–MCR) per dati LC–HRMS, sono state confrontate con software proprietari (Compound Discoverer) e open-source (MS-DIAL) in termini di coerenza delle feature e suscettibilità ai falsi positivi. I workflow untargeted sono stati applicati e validati in diversi contesti, tra cui la quantificazione del caramello nell’Aceto Balsamico di Modena IGP e l’autenticazione del miele italiano. È stato inoltre sviluppato un workflow per la gascromatografia–spettrometria a mobilità ionica (GC–IMS), valutato per riproducibilità e robustezza. Infine, un metodo basato su cromatografia liquida interazionale idrofila–spettrometria di massa (HILIC–MS) è stato ottimizzato per la determinazione di undici contaminanti emergenti. Sebbene concepito come approccio mirato, la sua ottimizzazione multivariata e l’applicazione allo screening untargeted di contaminanti in acque superficiali e sotterranee riflettono la filosofia integrativa di questo lavoro. Complessivamente, la tesi offre una valutazione approfondita dei workflow analitici untargeted, evidenziando l’interazione tra preparazione del campione, prestazioni strumentali e strategie di elaborazione dei dati, e fornendo indicazioni metodologiche per migliorare qualità, riproducibilità e interpretabilità negli studi untargeted.Untargeted analysis refers to the comprehensive detection of all relevant components in a sample without prior knowledge of their chemical structure. Despite its great potential, this approach remains challenging due to limitations in sample preparation, data handling, and standardisation. Sample preparation is a crucial step influencing the quality of untargeted data. Food and environmental matrices contain numerous interfering substances that may cause matrix effects, hinder analyte recovery, and reduce sensitivity. Extraction and isolation procedures are therefore critical, yet often lead to degradation or loss of analytes, especially in the absence of specific guidelines. Such effects alter the signal-to-noise ratio and compromise accuracy and reproducibility. The enormous amount of data generated by untargeted analyses, often reaching the order of gigabytes as in liquid chromatography–high-resolution mass spectrometry (LC–HRMS), makes data processing one of the most demanding steps. Early inaccuracies in feature extraction or alignment can propagate throughout the workflow, undermining reproducibility and interpretation. Because of the high dimensionality of the data, reduction, and compression are essential but must preserve meaningful chemical information. Random and chemical noise inevitably produce false positives, while the lack of harmonised workflows and the low coherence among software platforms result in limited overlap of detected features and poor comparability across studies. Another major challenge arises from the propagation of computational errors and the “black-box” nature of many data-processing tools. Feature detection, peak alignment, and deconvolution algorithms depend on numerous parameters that are difficult to optimise, leading to inconsistent results and reduced transparency. Even small variations in these parameters can significantly alter the final dataset; therefore, rigorous validation of workflows is essential to ensure analytical reliability. This thesis systematically addresses these challenges through the development and critical evaluation of untargeted workflows, encompassing both data acquisition and analysis. Initially, extraction and instrumental conditions for untargeted metabolomic analysis were optimised by means of experimental design, with emphasis on defining suitable multivariate responses. Advanced data analysis methodologies, such as the Region of Interest–Multivariate Curve Resolution (ROI–MCR) approach for LC–HRMS data, were assessed and compared with both proprietary (Compound Discoverer) and open-source (MS-DIAL) software in terms of feature consistency, reliability, and susceptibility to false positives. Untargeted workflows were also applied and validated in diverse contexts, including the detection and quantification of caramel in Balsamic Vinegar of Modena PGI and the authentication of Italian honey. A workflow for gas chromatography–ion mobility spectrometry (GC–IMS) data was developed and evaluated for reproducibility and robustness. Finally, a hydrophilic interaction liquid chromatography–mass spectrometry (HILIC–MS) method was optimised for the determination of eleven emerging contaminants. Although designed as a targeted approach, its multivariate optimisation and subsequent application to the untargeted screening of emerging contaminants in surface and groundwater exemplify the integrative philosophy underpinning this work. Overall, this thesis provides a comprehensive evaluation of untargeted analytical workflows, highlighting the interplay between sample preparation, instrumental performance, and data-processing strategies, and offering methodological insights to improve data quality, reproducibility, and interpretability in untargeted studies
Un ambulatorio di dermopigmentazione a gestione infermieristica dopo il tumore al seno: sviluppo e fattibilità di un intervento complesso nell'ambito della ricerca sui servizi sanitari
No full textIl tatuaggio del complesso areola-capezzolo è una tecnica fondamentale per la ricostruzione dopo un intervento chirurgico per cancro al seno che offre un elevato grado di soddisfazione delle pazienti, costi ridotti, e minori complicanze. Sebbene questo trattamento sia previsto in Italia come parte delle cure essenziali, l'accesso è limitato dalla mancanza di servizi clinici, con elevati costi per le pazienti. Si ipotizza che lo sviluppo di un servizio dedicato, gestito da infermieri, avrebbe un impatto positivo sulle pazienti, sui professionisti e sull'organizzazione, consentendo il completamento del percorso di cura. Questo progetto mira a sviluppare e valutare la fattibilità di un servizio di dermopigmentazione gestito da infermieri per le pazienti che hanno subito un intervento chirurgico per il cancro al seno presso l'Azienda USL-IRCCS di Reggio Emilia. Il quadro di riferimento è quello del Medical Research Council per gli interventi complessi. Il Work Package 1 (WP1) ha comportato lo sviluppo dell'intervento, compresa la conduzione di una revisione della letteratura di ambito e un'analisi del contesto. Il WP2, la fase di fattibilità e valutazione, ha utilizzato uno studio osservazionale con metodi misti per valutare: Endpoint 1 (sostenibilità organizzativa), Endpoint 2 (risultato estetico), Endpoint 3 (percezioni dei professionisti) ed Endpoint 4 (percezioni delle donne). WP1 ha confermato la rilevanza dell’intervento nell'aiutare le donne a ridefinire la propria identità, e ha sottolineato la necessità di ulteriori studi. L'esame del contesto ha identificato le risorse, i professionisti necessari, e la procedura iniziale. Il WP2 ha dimostrato che la clinica ARCADE è un intervento complesso fattibile. L'analisi dell'Endpoint 1 (N = 33 partecipanti) ha mostrato tempi e materiali standard, confermando la sostenibilità organizzativa e risultati estetici soddisfacenti. L'analisi di 22 set di foto di trattamenti completati condotta da esperti per l'Endpoint 2 ha rivelato punteggi medi elevati in una scala Likert da 1 a 5: somiglianza del colore (4,7), simmetria (4,8) ed effetto 3D (4,7), dimostrando un'eccellente qualità. Per l'Endpoint 3, sono stati intervistati cinque professionisti: essi hanno sottolineato l'importanza della disponibilità di risorse, della motivazione e della creazione di una rete comunitaria/professionale. Per l'Endpoint 4, sono stati intervistati dieci pazienti: essi hanno identificato l'accessibilità e la validità come punti di forza chiave del servizio. È emerso un impatto positivo sulla loro percezione dell'immagine corporea. Questo intervento ha aiutato le donne a sviluppare una nuova prospettiva sulla loro identità, favorendo un senso di normalità e fiducia e avendo un impatto positivo sulla loro capacità di affrontare la malattia passata. Il progetto ARCADE ha dimostrato il valore della ricerca sui servizi sanitari nella creazione di un modello di assistenza personalizzato. I risultati preliminari suggeriscono che il miglioramento della percezione dell'immagine corporea facilita il funzionamento sociale e il recupero psicologico dall'impatto della malattia e delle cure mediche. Sono necessari ulteriori studi per confermare questi risultati. Le sfide future includono la formazione del personale, il coordinamento, e la sostenibilità a lungo termine. La clinica ARCADE ha colmato con successo una lacuna significativa nell'assistenza ai pazienti, dimostrandosi valida, sicura e accessibile. Svolge un ruolo fondamentale nel processo di recupero psicosociale e completa il percorso di cura del cancro al seno.Introduction: Nipple-areola complex (NAC) tattooing is a critical technique for aesthetic breast reconstruction following cancer surgery that offers high patient satisfaction, reduced costs, fewer complications and shorter waiting times compared to surgical alternatives. Although this treatment is provided free of charge in Italy as part of essential care, access is limited by a lack of in-clinic services, leaving patients with no choice but to seek expensive private care. It is hypothesized that developing a dedicated, nurse-led service would reduce the burden on women's care journeys and have a multifaceted positive impact on patients, professionals, and the organization, enabling completion of the breast cancer care pathway in a sustainable manner.
Methods: This project aimed to develop and evaluate the feasibility of a nurse-led NAC tattooing service for patients who have undergone breast cancer surgery at Azienda USL-IRCCS in Reggio Emilia, Italy. Following the Medical Research Council's framework for complex interventions, the research employed a multi-phase health services methodology. Work Package 1 (WP1) involved developing the intervention, including conducting a scoping review and a context analysis with patient associations and professionals to develop the initial activity plan. WP2, the feasibility and evaluation phase, used an observational mixed-methods study to assess: Endpoint 1 (organizational sustainability), Endpoint 2 (cosmetic outcome), Endpoint 3 (professionals' perceptions), and Endpoint 4 (tattooed women's perceptions).
Results: WP1 confirmed the relevance of research on NAC tattooing in helping women redefine their identity after treatment and emphasized the need for further process and outcome studies. The context examination successfully identified the necessary resources and professionals, as well as the initial procedure. WP2 demonstrated that the nurse-led clinic, ARCADE, is a feasible complex intervention. Analysis of Endpoint 1 (N = 33 participants) showed standard timing and materials, confirming organizational sustainability and satisfactory cosmetic results, with no adverse events. The analysis of 22 NAC photo sets conducted by experts for Endpoint 2, revealed high mean scores in a 1-5 Likert scale: color similarity (4.7), symmetry (4.8), and 3D effect (4.7), demonstrating excellent quality. For Endpoint 3, five professionals were interviewed: they highlighted the importance of resource availability, motivation, and establishing a community/professional network. For Endpoint 4, ten patients were interviewed: they identified accessibility and validity as key strengths of the service. A positive impact on their body image perception emerged. This intervention helped women to develop a new perspective on their identity, fostering a sense of normality and confidence and having a positive impact on their ability to cope with their past illness.
Discussion: The ARCADE project demonstrated the value of health service research in creating a customized care model focused on multiple outcomes, including professional value. Preliminary findings suggest that improving body image perception facilitates social functioning and psychological recovery from the impact of disease and medical treatment. Further studies are required to confirm these findings. Future challenges include ensuring dedicated personnel, improving team coordination, and reconciling long-term sustainability with high-level performance.
Conclusion: The nurse-led ARCADE clinic successfully addressed a significant gap in patient care, proving to be valid, safe and equally accessible. It plays a vital role in the psychosocial recovery process for breast cancer survivors, as it completes the breast cancer care pathway
Predictive capabilities of flamelet combustion models in hydrogen engines across a broad range of operating conditions
No full textHydrogen-fuelled internal combustion engines (H2ICEs) can reduce the CO2 emissions of the transport sector. In literature, several 3D Computational Fluid Dynamics (CFD) methodologies to simulate H2ICE combustion are used. However, the wide range of conditions under which H2ICEs operate results in a large variety of numerical setups. In this work, Three-Zones Extended Coherent Flamelet Model (ECFM-3Z) and Complex Chemistry with Turbulent Flame Speed Closure model (CC-TFC) are analysed, and a robust methodology is proposed. Flame speed analyses on a combustion plane show that with low turbulence, CC-TFC flame speed tends to the correspondent laminar value, while the ECFM-3Z one tends to zero. As turbulence increases, the ECFM-3Z flame speed becomes higher than CC-TFC one. This behaviour is confirmed by in-cylinder simulations performed on a port fuel injection (PFI) lean H2ICE and on a stoichiometric hydrogen direct injection (HDI) engine, operated at part and full load. With ECFM-3Z, the MFB10-50 is 22 % shorter than experiments with low turbulence and 56 % faster with high turbulence, requiring significant calibration. As for CC-TFC, with a single setup, the MFB10-50 is less than 3 % longer than experiments in both PFI engine conditions and 15 % faster in the HDI engine at part load, with a minor tuning needed only for the full load condition. The different models behaviour with low turbulence affects also the wall-flame interaction, as with ECFM-3Z the flame is artificially quenched when approaching the walls, which leads to a 30 % less heat transferred to the walls compared to CC-TFC
Coherent coupling between YBCO superconducting resonators and sub-micrometer-thick YIG films
No full textIn cavity magnonics, magnon–photon hybridization has been widely investigated for both fundamental studies and applications. Planar superconducting resonators operating at microwave frequencies have demonstrated the possibility to achieve high couplings with magnons by exploiting the confinement of the microwave field in a reduced volume. Here we report a study of the coupling of high-Tc YBCO superconducting waveguides with 104-nm-thick YIG magnetic films. We study the evolution of mode frequencies as a function of temperature and extract the coupling strength of hybrid magnon–photon modes. We show that the experimental results can be reproduced using a simple model in which the temperature dependence of the penetration depth accounts for the evolution of the polaritonic spectrum
Commodity risk assessment of Vitis spp. plants from Moldova
No full textThe European Commission requests EFSA to provide scientific opinions in the field of plant health in accordance with Article 29 of Regulation (EC) No 178/2002. Annex VI of Commission Implementing Regulation (EU) 2019/2072 lists plants, plant products and other objects whose introduction into the Union from certain third countries is prohibited. This Scientific Opinion covers plant health risks posed by 1- to 2-year-old grafted bare root plants without leaves of Vitis spp. from the Republic of Moldova, taking into account the available scientific information, including the technical information provided by Moldova. All pests associated with the commodity were evaluated for their relevance for this opinion. Eight pests (one EU quarantine pest and seven Vitis spp. RNQPs) that fulfilled all the criteria were selected for further evaluation. For the selected pests, the risk mitigation measures implemented in Moldova and described in the technical dossier were evaluated. For the selected pests, an expert judgement is given on the likelihood of pest freedom considering the risk mitigation measures acting on the pest, including uncertainties associated with the assessment. The degree of pest freedom varies among the pests evaluated, with grapevine fleck virus (GFkV, Maculavirus vitis) and 'Candidatus Phytoplasma solani' being the pests most frequently expected on the imported plants. The Expert Knowledge Elicitation indicated with 95% certainty that 9900 or more units per 10,000 will be free from the above-mentioned pests
Chemistry-driven autonomous nanopore membranes
No full text: Fabrication of pores at the atomic scale remains a significant challenge in modern nanotechnology, hindering the study of ion transport and molecular dynamics in confined spaces. Here, we introduce a chemically controllable break-membrane approach that enables the repeated formation and closure of nanoscale pores in SiNx membranes through manipulating the in-pore electrochemical reaction conditions by transmembrane voltage. Ionic current measurements reveal distinct conductance features that are consistent with ion dehydration and transport through highly confined channels approaching sub-nanometer dimensions. The scalable nature of this platform, which allows multiple pores to be actuated simultaneously, offers a powerful tool for probing ion transport and fluid dynamics in extreme confinement. Beyond advancing fundamental understanding of ion transport and fluid dynamics, this chemically driven membrane system holds promise for applications in single-molecule sensing, neuromorphic computing, and nanoreactor design
Searching for New Possible Peripheral Biomarkers of Cognitive Decline in Down Syndrome: The Role of IL-18 Pathway and its Interaction with TGF-β1 and TNF-α
No full textDown syndrome (DS) represents one of the most common genetic disorders attributable to a partial or complete trisomy of chromosome 21 that affects about 1 in 700 individuals at birth. The diagnosis of Alzheimer's Disease (AD)-correlated cognitive decline in this population requires new approaches and new biomarkers that comprehensively assess health status and early cognitive decline. In this observational study, we explored for the first time the relation of IL-18, a cytokine member of IL-1 family involved in both innate and acquired immune responses, with DS associated cognitive decline. We observed that plasma total IL-18, in subjects with DS over 35 with and without AD-related cognitive decline, and plasma concentrations of its binding protein in subjects with DS (19-35 years) were correlated with lower plasma concentrations of Transforming Growth Factor (TGF-beta 1), which are linked to an increased rate of cognitive decline in adults with DS. In addition, we found a significant association between low baseline concentrations of Free IL-18, the active form of the cytokine, and an increased rate of cognitive decline at 12 months, calculated as delta of the Test for Severe Impairment (dTSI), in individuals with DS (19-35 years). Finally, we demonstrated a reduction of Free IL-18/TNF-alpha ratio, considered as a new possible double biomarker, in both young and older adult DS subjects without AD-related cognitive decline (area under the receiver operating curve (AUC) was 0.82 and 0.71, respectively), suggesting the advantage of the composite biomarkers in the discrimination of patients from healthy people over single biomarkers