5,177 results on '"Bertelli A"'
Search Results
2. Targeted next-generation sequencing analysis in Italian patients with keratoconus
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Lombardo, Marco, Camellin, Umberto, Gioia, Raffaella, Serrao, Sebastiano, Scorcia, Vincenzo, Roszkowska, Anna Maria, Lombardo, Giuseppe, Bertelli, Matteo, Medori, Maria Chiara, Alunni Fegatelli, Danilo, Vestri, Annarita, Mencucci, Rita, and Schiano Lomoriello, Domenico
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- 2024
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3. Anxiety, depression and quality of life in patients undergoing total thyroidectomy: comparative analysis between differentiated thyroid cancer and benign nodular disease
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Nakai, Marianne Yumi, Dantas, Francisca Lúcia Passos, Tenório, Lucas Ribeiro, Bertelli, Antonio Augusto Tupinambá, Wolfe, Samantha A., Russell, Jonathon Owen, Menezes, Marcelo Benedito, and Gonçalves, Antônio José
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- 2024
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4. The Effects of Head Elevation on Intracranial Pressure, Cerebral Perfusion Pressure, and Cerebral Oxygenation Among Patients with Acute Brain Injury: A Systematic Review and Meta-Analysis
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Ramos, Miguel Bertelli, Britz, João Pedro Einsfeld, Telles, João Paulo Mota, Nager, Gabriela Borges, Cenci, Giulia Isadora, Rynkowski, Carla Bittencourt, Teixeira, Manoel Jacobsen, and Figueiredo, Eberval Gadelha
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- 2024
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5. The trade-off between ESG screening and portfolio diversification in the short and in the long run
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Bertelli, Beatrice and Torricelli, Costanza
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- 2024
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6. Novel loss-of-function variants in filaggrin exon 3 in patients with severe atopic dermatitis
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Bellinato, Francesco, Gisondi, Paolo, Medori, Maria Chiara, Maltese, Paolo, Cristofoli, Francesca, Mareso, Chiara, Macchia, Alessandro, Bertelli, Matteo, and Girolomoni, Giampiero
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- 2024
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7. Exploring the links between sensory sensitivity, autistic traits and autism-related eating behaviours in a sample of adult women with eating disorders
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Gianmarco Ingrosso, Veronica Nisticò, Francesco Lombardi, Benedetta Morlacchi, Anna Chiara Cigognini, Margherita Oresti, Raffaella Faggioli, Anna Mottaran, Carolina Alberta Redaelli, Martina Tramontano, Laura Ranzini, Simona Anselmetti, Sara Bertelli, Orsola Gambini, and Benedetta Demartini
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Eating disorders ,Autism-related eating behaviours ,Autistic traits ,Sensory sensitivity ,SWEAA. ,Medicine ,Science - Abstract
Abstract This study examined the presence of autistic traits in a sample of adult women diagnosed with different Eating Disorders (ED), and explored the concurrent role of autistic traits and sensory sensitivity in influencing both their eating disorder symptomatology and their autism-related eating behaviours. Seventy-five women with different ED (Anorexia Nervosa, Bulimia Nervosa, Binge-Eating Disorder, Other Specified Feeding or Eating Disorder) completed the Eating Attitude Test (EAT-26), the Autism Quotient (AQ), the Ritvo Autism Asperger Diagnostic Scale-Revised (RAADS-R), the Sensory Perception Quotient - Short Form 35 item (SPQ-SF35) and the Swedish Eating Assessment for Autism Spectrum Disorders (SWEAA). Twelve percent of participants scored above the cut-off on both the AQ and the RAADS-R, while 68% scored above the cut-off on the RAADS-R only. A mediation analysis revealed that the association between sensory sensitivity (SPQ-SFR35) and scores on both the EAT-26 and the SWEAA was significantly mediated by the presence of autistic traits (RAADS-R). These findings, first, confirm the presence of autistic traits in individuals with ED; second, they show that a lower sensory threshold (i.e., a higher sensory sensitivity) is associated with a higher presence of autistic traits which were, in turn, positively associated with dysfunctional eating behaviours typical of ED and ASD. This study ultimately highlights the importance of further research on autistic traits across all diagnostic categories of ED.
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- 2024
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8. Surgical stabilization of rib fractures (SSRF): the WSES and CWIS position paper
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Giacomo Sermonesi, Riccardo Bertelli, Fredric M. Pieracci, Zsolt J. Balogh, Raul Coimbra, Joseph M. Galante, Andreas Hecker, Dieter Weber, Zachary M. Bauman, Susan Kartiko, Bhavik Patel, SarahAnn S. Whitbeck, Thomas W. White, Kevin N. Harrell, Daniele Perrina, Alessia Rampini, Brian Tian, Francesco Amico, Solomon G. Beka, Luigi Bonavina, Marco Ceresoli, Lorenzo Cobianchi, Federico Coccolini, Yunfeng Cui, Francesca Dal Mas, Belinda De Simone, Isidoro Di Carlo, Salomone Di Saverio, Agron Dogjani, Andreas Fette, Gustavo P. Fraga, Carlos Augusto Gomes, Jim S. Khan, Andrew W. Kirkpatrick, Vitor F. Kruger, Ari Leppäniemi, Andrey Litvin, Andrea Mingoli, David Costa Navarro, Eliseo Passera, Michele Pisano, Mauro Podda, Emanuele Russo, Boris Sakakushev, Domenico Santonastaso, Massimo Sartelli, Vishal G. Shelat, Edward Tan, Imtiaz Wani, Fikri M. Abu-Zidan, Walter L. Biffl, Ian Civil, Rifat Latifi, Ingo Marzi, Edoardo Picetti, Manos Pikoulis, Vanni Agnoletti, Francesca Bravi, Carlo Vallicelli, Luca Ansaloni, Ernest E. Moore, and Fausto Catena
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Rib fractures ,Surgical stabilization of rib fractures (SSRF) ,Flail chest ,Multiple rib fractures ,Thoracic/chest trauma injury ,Rib fixation ,Surgery ,RD1-811 ,Medical emergencies. Critical care. Intensive care. First aid ,RC86-88.9 - Abstract
Abstract Background Rib fractures are one of the most common traumatic injuries and may result in significant morbidity and mortality. Despite growing evidence, technological advances and increasing acceptance, surgical stabilization of rib fractures (SSRF) remains not uniformly considered in trauma centers. Indications, contraindications, appropriate timing, surgical approaches and utilized implants are part of an ongoing debate. The present position paper, which is endorsed by the World Society of Emergency Surgery (WSES), and supported by the Chest Wall Injury Society, aims to provide a review of the literature investigating the use of SSRF in rib fracture management to develop graded position statements, providing an updated guide and reference for SSRF. Methods This position paper was developed according to the WSES methodology. A steering committee performed the literature review and drafted the position paper. An international panel of experts then critically revised the manuscript and discussed it in detail, to develop a consensus on the position statements. Results A total of 287 studies (systematic reviews, randomized clinical trial, prospective and retrospective comparative studies, case series, original articles) have been selected from an initial pool of 9928 studies. Thirty-nine graded position statements were put forward to address eight crucial aspects of SSRF: surgical indications, contraindications, optimal timing of surgery, preoperative imaging evaluation, rib fracture sites for surgical fixation, management of concurrent thoracic injuries, surgical approach, stabilization methods and material selection. Conclusion This consensus document addresses the key focus questions on surgical treatment of rib fractures. The expert recommendations clarify current evidences on SSRF indications, timing, operative planning, approaches and techniques, with the aim to guide clinicians in optimizing the management of rib fractures, to improve patient outcomes and direct future research.
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- 2024
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9. Seagrass space occupation efficiency is key for their role as ecosystem engineers and ecological indicators
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Vasco M. N. C. S. Vieira, Rafael Santos, David Leitão-Silva, Arthur Veronez, Joana M. Neves, Marta Nogueira, Ana Brito, Rui Cereja, Joel C. Creed, Chiara M. Bertelli, Jimena Samper-Villarreal, Cátia Bartilotti, and Jorge Lobo-Arteaga
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Geology ,QE1-996.5 ,Environmental sciences ,GE1-350 - Abstract
Abstract Studies for the preservation of seagrass beds biotopes have met difficulties in establishing appropriate methods assessing their health. We tested the efficiency of space occupation by seagrasses scattered worldwide (dgrass index), which proved to be dependent on clonal growth form and morphometric plasticity. dgrass correlated with the above-ground to below-ground biomass ratio. However, the latter was misleading when high ratios resulted from low below-ground biomass. Nutrient Posphate-limitations were revealed in situations of theoretical Nitrogen-limitation. Enhanced nutrient supply benefitted seagrasses only up to a threshold after which it became detrimental. Better nurtured, healthier meadows with denser canopies increased the organic matter in the sediment and had associated greater abundances of benthic macrofauna. Hence, seagrass biotopes could benefit from moderate anthropogenic nutrient additions. However, organic matter above ≈6% and/or reduced riverine discharges (dams upstream and climate-change-related droughts) were detrimental to healthy meadows, jeopardizing ecosystem services such as macrofauna abundances and carbon sinks.
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- 2024
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10. Mask side-effects are related to gender in long-term CPAP: results from the InterfaceVent real-life study
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Celia Vidal, Fanny Bertelli, Jean-Pierre Mallet, Raphael Gilson, Jean-Christian Borel, Frédéric Gagnadoux, Arnaud Bourdin, Nicolas Molinari, and Dany Jaffuel
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Sleep apnea ,Leaks ,Side-effects ,Women ,Diseases of the respiratory system ,RC705-779 - Abstract
Abstract Background Over the past three decades, our understanding of sleep apnea in women has advanced, revealing disparities in pathophysiology, diagnosis, and treatment compared to men. However, no real-life study to date has explored the relationship between mask-related side effects (MRSEs) and gender in the context of long-term CPAP. Methods The InterfaceVent-CPAP study is a prospective real-life cross-sectional study conducted in an apneic adult cohort undergoing at least 3 months of CPAP with unrestricted mask-access (34 different masks, no gender specific mask series). MRSE were assessed by the patient using visual analog scales (VAS). CPAP-non-adherence was defined as a mean CPAP-usage of less than 4 h per day. The primary objective of this ancillary study was to investigate the impact of gender on the prevalence of MRSEs reported by the patient. Secondary analyses assessed the impact of MRSEs on CPAP-usage and CPAP-non-adherence depending on the gender. Results A total of 1484 patients treated for a median duration of 4.4 years (IQ25–75: 2.0–9.7) were included in the cohort, with women accounting for 27.8%. The prevalence of patient-reported mask injury, defined as a VAS score ≥ 5 (p = 0.021), was higher in women than in men (9.6% versus 5.3%). For nasal pillow masks, the median MRSE VAS score for dry mouth was higher in women (p = 0.039). For oronasal masks, the median MRSE VAS score for runny nose was higher in men (p = 0.039). Multivariable regression analyses revealed that, for both women and men, dry mouth was independently and negatively associated with CPAP-usage, and positively associated with CPAP-non-adherence. Conclusion In real-life patients treated with long-term CPAP, there are gender differences in patient reported MRSEs. In the context of personalized medicine, these results suggest that the design of future masks should consider these gender differences if masks specifically for women are developed. However, only dry mouth, a side effect not related to mask design, impacts CPAP-usage and non-adherence. Trial Registration: InterfaceVent is registered with ClinicalTrials.gov (NCT03013283).First registration date is 2016–12-23.
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- 2024
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11. Exploring the links between sensory sensitivity, autistic traits and autism-related eating behaviours in a sample of adult women with eating disorders
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Ingrosso, Gianmarco, Nisticò, Veronica, Lombardi, Francesco, Morlacchi, Benedetta, Cigognini, Anna Chiara, Oresti, Margherita, Faggioli, Raffaella, Mottaran, Anna, Redaelli, Carolina Alberta, Tramontano, Martina, Ranzini, Laura, Anselmetti, Simona, Bertelli, Sara, Gambini, Orsola, and Demartini, Benedetta
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- 2024
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12. Surgical stabilization of rib fractures (SSRF): the WSES and CWIS position paper
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Sermonesi, Giacomo, Bertelli, Riccardo, Pieracci, Fredric M., Balogh, Zsolt J., Coimbra, Raul, Galante, Joseph M., Hecker, Andreas, Weber, Dieter, Bauman, Zachary M., Kartiko, Susan, Patel, Bhavik, Whitbeck, SarahAnn S., White, Thomas W., Harrell, Kevin N., Perrina, Daniele, Rampini, Alessia, Tian, Brian, Amico, Francesco, Beka, Solomon G., Bonavina, Luigi, Ceresoli, Marco, Cobianchi, Lorenzo, Coccolini, Federico, Cui, Yunfeng, Dal Mas, Francesca, De Simone, Belinda, Di Carlo, Isidoro, Di Saverio, Salomone, Dogjani, Agron, Fette, Andreas, Fraga, Gustavo P., Gomes, Carlos Augusto, Khan, Jim S., Kirkpatrick, Andrew W., Kruger, Vitor F., Leppäniemi, Ari, Litvin, Andrey, Mingoli, Andrea, Navarro, David Costa, Passera, Eliseo, Pisano, Michele, Podda, Mauro, Russo, Emanuele, Sakakushev, Boris, Santonastaso, Domenico, Sartelli, Massimo, Shelat, Vishal G., Tan, Edward, Wani, Imtiaz, Abu-Zidan, Fikri M., Biffl, Walter L., Civil, Ian, Latifi, Rifat, Marzi, Ingo, Picetti, Edoardo, Pikoulis, Manos, Agnoletti, Vanni, Bravi, Francesca, Vallicelli, Carlo, Ansaloni, Luca, Moore, Ernest E., and Catena, Fausto
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- 2024
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13. Seagrass space occupation efficiency is key for their role as ecosystem engineers and ecological indicators
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Vieira, Vasco M. N. C. S., Santos, Rafael, Leitão-Silva, David, Veronez, Arthur, Neves, Joana M., Nogueira, Marta, Brito, Ana, Cereja, Rui, Creed, Joel C., Bertelli, Chiara M., Samper-Villarreal, Jimena, Bartilotti, Cátia, and Lobo-Arteaga, Jorge
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- 2024
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14. Mask side-effects are related to gender in long-term CPAP: results from the InterfaceVent real-life study
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Vidal, Celia, Bertelli, Fanny, Mallet, Jean-Pierre, Gilson, Raphael, Borel, Jean-Christian, Gagnadoux, Frédéric, Bourdin, Arnaud, Molinari, Nicolas, and Jaffuel, Dany
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- 2024
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15. Publisher Correction: Interactomic exploration of LRRC8A in volume-regulated anion channels
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Carpanese, Veronica, Festa, Margherita, Prosdocimi, Elena, Bachmann, Magdalena, Sadeghi, Soha, Bertelli, Sara, Stein, Frank, Velle, Angelo, Abdel-Salam, Mostafa A. L., Romualdi, Chiara, Pusch, Michael, and Checchetto, Vanessa
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- 2024
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16. Association of pathogenic determinants of Fusobacterium necrophorum with bacteremia, and Lemierre’s syndrome
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Carrara, Alessia, Bertelli, Claire, Gardiol, Céline, Marquis, Bastian, Andrey, Diego O., Schrenzel, Jacques, Pillonel, Trestan, and Greub, Gilbert
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- 2024
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17. Stable chalcogenide Ge–Sb–Te heterostructures with minimal Ge segregation
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Bertelli, Marco, Sfuncia, Gianfranco, De Simone, Sara, Diaz Fattorini, Adriano, Calvi, Sabrina, Mussi, Valentina, Arciprete, Fabrizio, Mio, Antonio M., Calarco, Raffaella, and Longo, Massimo
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- 2024
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18. Interactomic exploration of LRRC8A in volume-regulated anion channels
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Carpanese, Veronica, Festa, Margherita, Prosdocimi, Elena, Bachmann, Magdalena, Sadeghi, Soha, Bertelli, Sara, Stein, Frank, Velle, Angelo, Abdel-Salam, Mostafa A. L., Romualdi, Chiara, Pusch, Michael, and Checchetto, Vanessa
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- 2024
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19. Neuropsychological outcomes in patients with ruptured anterior communicating artery aneurysms treated by clipping versus coiling: a systematic review and meta-analysis
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Santana, Laís Silva, Yoshikawa, Marcia Harumy, Ramos, Miguel Bertelli, Figueiredo, Eberval Gadelha, and Telles, João Paulo Mota
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- 2024
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20. A novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dystrophy with situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts
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Placidi, Giorgio, D’Agostino, Elena, Maltese, Paolo Enrico, Savastano, Maria Cristina, Gambini, Gloria, Rizzo, Stanislao, Bonetti, Gabriele, Bertelli, Matteo, Chiurazzi, Pietro, and Falsini, Benedetto
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- 2024
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21. Effects of a dietary intervention with lacto-ovo-vegetarian and Mediterranean diets on apolipoproteins and inflammatory cytokines: results from the CARDIVEG study
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Pagliai, Giuditta, Tristan Asensi, Marta, Dinu, Monica, Cesari, Francesca, Bertelli, Alessia, Gori, Anna Maria, Giusti, Betti, Marcucci, Rossella, Sofi, Francesco, and Colombini, Barbara
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- 2024
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22. An optogenetic method for the controlled release of single molecules
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Kashyap, Purba, Bertelli, Sara, Cao, Fakun, Kostritskaia, Yulia, Blank, Fenja, Srikanth, Niranjan A., Schlack-Leigers, Claire, Saleppico, Roberto, Bierhuizen, Dolf, Lu, Xiaocen, Nickel, Walter, Campbell, Robert E., Plested, Andrew J. R., Stauber, Tobias, Taylor, Marcus J., and Ewers, Helge
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- 2024
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23. Epidemiological Study of Frontal Sinus Fractures: Evaluation of 16 Years of Care at the Faculty of Dentistry of Ribeirão Preto/Brazil
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Nogueira, Lucas Costa, Quinto, José Henrique Santana, Trivellato, Priscila Faleiros Bertelli, Sverzut, Cássio Edvard, and Trivellato, Alexandre Elias
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- 2024
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24. NMR-based analytical methods for quantifying boswellic acids in extracts employed for producing food supplements: comparison of 13C-qNMR and 1H-NMR/PLS-R methods
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Truzzi, Eleonora, Piazza, Danny Vincenzo, Rossi, Maria Cecilia, Benvenuti, Stefania, and Bertelli, Davide
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- 2024
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25. Ethical Prescribing of Psychotropic Medications for People with Neurodevelopmental Disorders
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Deb, Shoumitro, Limbu, Bharati, Bianco, Annamaria, and Bertelli, Marco
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- 2024
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26. Publisher Correction: Interactomic exploration of LRRC8A in volume-regulated anion channels
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Veronica Carpanese, Margherita Festa, Elena Prosdocimi, Magdalena Bachmann, Soha Sadeghi, Sara Bertelli, Frank Stein, Angelo Velle, Mostafa A. L. Abdel-Salam, Chiara Romualdi, Michael Pusch, and Vanessa Checchetto
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Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,RC254-282 ,Cytology ,QH573-671 - Published
- 2024
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27. Association of pathogenic determinants of Fusobacterium necrophorum with bacteremia, and Lemierre’s syndrome
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Alessia Carrara, Claire Bertelli, Céline Gardiol, Bastian Marquis, Diego O. Andrey, Jacques Schrenzel, Trestan Pillonel, and Gilbert Greub
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Lemierre’s syndrome ,Anaerobes ,Thrombophlebitis ,Sepsis ,Bacteremia ,Tonsillitis ,Medicine ,Science - Abstract
Abstract Fusobacterium necrophorum is a Gram-negative anaerobic bacterium responsible for localized infections of the oropharynx that can evolve into bacteremia and/or septic thrombophlebitis of the jugular vein or peritonsillar vein, called Lemierre’s syndrome. To identify microbial genetic determinants associated with the severity of this life-threatening disease, 70 F. necrophorum strains were collected and grouped into two categories according to the clinical presentation: (i) localized infection, (ii) bacteremia with/without Lemierre’s syndrome. Comparative genomic analyses revealed two clades with distinct genetic content, one clade being significantly enriched with isolates from subjects with bacteremia. To identify genetic determinants contributing to F. necrophorum pathogenicity, genomic islands and virulence factor orthogroups (OVFs) were predicted. The presence/absence profiles of OVFs did not group isolates according to their clinical category, but rather according to their phylogeny. However, a variant of lktA, a key virulence factor, with a frameshift deletion that results in two open reading frames, was associated with bacteremia. Moreover, a genome-wide association study identified three orthogroups associated with bacteremic strains: (i) cas8a1, (ii) a sodium/solute symporter, and (iii) a POP1 domain-containing protein. Further studies must be performed to assess the functional impact of lktA mutation and of these orthogroups on the physiopathological mechanisms of F. necrophorum infections.
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- 2024
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28. Characterization of the PADME positron beam for the X17 measurement
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The PADME collaboration, S. Bertelli, F. Bossi, B. Buonomo, R. De Sangro, C. Di Giulio, E. Di Meco, K. Dimitrova, D. Domenici, F. Ferrarotto, G. Finocchiaro, L. G. Foggetta, A. Frankenthal, M. Garattini, G. Georgiev, P. Gianotti, S. Ivanov, Sv. Ivanov, V. Kozhuharov, E. Leonardi, E. Long, M. Mancini, G. C. Organtini, M. Raggi, I. Sarra, R. Simeonov, T. Spadaro, E. Spiriti, P. Valente, A. Variola, and E. Vilucchi
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Beyond Standard Model ,Exotics ,Fixed Target Experiments ,Dark Matter ,Nuclear and particle physics. Atomic energy. Radioactivity ,QC770-798 - Abstract
Abstract This paper presents a detailed characterization of the positron beam delivered by the Beam Test Facility at Laboratori Nazionali of Frascati to the PADME experiment during Run III, which took place from October to December 2022. It showcases the methodology used to measure the main beam parameters such as the position in space, the absolute momentum scale, the beam energy spread, and its intensity through a combination of data analysis and Monte Carlo simulations. The results achieved include an absolute precision in the momentum of the beam to within ~1–2 MeV/c, a relative beam energy spread below 0.25%, and an absolute precision in the intensity of the beam at the level of 2%.
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- 2024
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29. Promoting International Scientific Cooperation: the Role of Scientific Societies
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Vráblová M., Bonetti G., Henehan G., Brown R. E., Sykora P., Marks R. S., Miertus S., Lorusso L., Tartaglia G.M., Cerkez Ergoren M., Sait Dundar M., Dundar M., Michelini S., Miertus J., Connelly S.T., Martin D., Bacu A., Herbst K.L., and Bertelli M.
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bioethics ,scientific collaboration ,scientific societies ,ebtna ,Biotechnology ,TP248.13-248.65 - Abstract
Scientific collaboration yields many advantages, especially in fields that require interdisciplinary approaches, as it fosters the sharing of knowledge and resources and is essential for the implementation of complex projects. The concept of scientific internationalism emerged around the 1900s, emphasizing that science surpasses national boundaries and promotes global peace and collaboration. International scientific cooperation is halted by geopolitical tensions and conflicts, such as World War II and the Cold War. Nevertheless, many examples show that scientific collaboration can surpass conflicts and bring scientific and society development, such as in the cases of the Tick-borne Encephalitis vaccine, the Apollo-Soyuz test project and more recently the international endeavour for COVID-19 vaccine development. In this contest, UN and WHO have an imporant role to promote peace and scientific cooperation, examplified by the 16th Sustainable Development Goal, to “Promote just, peaceful and inclusive societies”.
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- 2024
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30. Stable chalcogenide Ge–Sb–Te heterostructures with minimal Ge segregation
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Marco Bertelli, Gianfranco Sfuncia, Sara De Simone, Adriano Diaz Fattorini, Sabrina Calvi, Valentina Mussi, Fabrizio Arciprete, Antonio M. Mio, Raffaella Calarco, and Massimo Longo
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PCM ,Sb2Te3 ,GST ,Ge ,Ge-rich ,Sputtering ,Medicine ,Science - Abstract
Abstract Matching of various chalcogenide films shows the advantage of delivering multilayer heterostructures whose physical properties can be tuned with respect to the ones of the constituent single films. In this work, (Ge–Sb–Te)-based heterostructures were deposited by radio frequency sputtering on Si(100) substrates and annealed up to 400 °C. The as-deposited and annealed samples were studied by means of X-ray fluorescence, X-ray diffraction, scanning transmission electron microscopy, electron energy loss spectroscopy and Raman spectroscopy. The heterostructures, combining thermally stable thin layers (i. e. Ge-rich Ge5.5Sb2Te5, Ge) and films exhibiting fast switching dynamics (i. e. Sb2Te3), show, on the one side, higher crystallization-onset temperatures than the standard Ge2Sb2Te5 alloy and, on the other side, none to minimal Ge-segregation.
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- 2024
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31. Interactomic exploration of LRRC8A in volume-regulated anion channels
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Veronica Carpanese, Margherita Festa, Elena Prosdocimi, Magdalena Bachmann, Soha Sadeghi, Sara Bertelli, Frank Stein, Angelo Velle, Mostafa A. L. Abdel-Salam, Chiara Romualdi, Michael Pusch, and Vanessa Checchetto
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Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,RC254-282 ,Cytology ,QH573-671 - Abstract
Abstract Ion channels are critical in enabling ion movement into and within cells and are important targets for pharmacological interventions in different human diseases. In addition to their ion transport abilities, ion channels interact with signalling and scaffolding proteins, which affects their function, cellular positioning, and links to intracellular signalling pathways. The study of “channelosomes” within cells has the potential to uncover their involvement in human diseases, although this field of research is still emerging. LRRC8A is the gene that encodes a crucial protein involved in the formation of volume-regulated anion channels (VRACs). Some studies suggest that LRRC8A could be a valuable prognostic tool in different types of cancer, serving as a biomarker for predicting patients’ outcomes. LRRC8A expression levels might be linked to tumour progression, metastasis, and treatment response, although its implications in different cancer types can be varied. Here, publicly accessible databases of cancer patients were systematically analysed to determine if a correlation between VRAC channel expression and survival rate exists across distinct cancer types. Moreover, we re-evaluated the impact of LRRC8A on cellular proliferation and migration in colon cancer via HCT116 LRRC8A-KO cells, which is a current topic of debate in the literature. In addition, to investigate the role of LRRC8A in cellular signalling, we conducted biotin proximity-dependent identification (BioID) analysis, revealing a correlation between VRAC channels and cell-cell junctions, mechanisms that govern cellular calcium homeostasis, kinases, and GTPase signalling. Overall, this dataset improves our understanding of LRRC8A/VRAC and explores new research avenues while identifying promising therapeutic targets and promoting inventive methods for disease treatment.
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- 2024
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32. Characterization of the PADME positron beam for the X17 measurement
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Bertelli, S., Bossi, F., Buonomo, B., De Sangro, R., Di Giulio, C., Di Meco, E., Dimitrova, K., Domenici, D., Ferrarotto, F., Finocchiaro, G., Foggetta, L. G., Frankenthal, A., Garattini, M., Georgiev, G., Gianotti, P., Ivanov, S., Ivanov, Sv., Kozhuharov, V., Leonardi, E., Long, E., Mancini, M., Organtini, G. C., Raggi, M., Sarra, I., Simeonov, R., Spadaro, T., Spiriti, E., Valente, P., Variola, A., and Vilucchi, E.
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- 2024
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33. The impact and future of artificial intelligence in medical genetics and molecular medicine: an ongoing revolution
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Ozcelik, Firat, Dundar, Mehmet Sait, Yildirim, A. Baki, Henehan, Gary, Vicente, Oscar, Sánchez-Alcázar, José A., Gokce, Nuriye, Yildirim, Duygu T., Bingol, Nurdeniz Nalbant, Karanfilska, Dijana Plaseska, Bertelli, Matteo, Pojskic, Lejla, Ercan, Mehmet, Kellermayer, Miklos, Sahin, Izem Olcay, Greiner-Tollersrud, Ole K., Tan, Busra, Martin, Donald, Marks, Robert, Prakash, Satya, Yakubi, Mustafa, Beccari, Tommaso, Lal, Ratnesh, Temel, Sehime G., Fournier, Isabelle, Ergoren, M. Cerkez, Mechler, Adam, Salzet, Michel, Maffia, Michele, Danalev, Dancho, Sun, Qun, Nei, Lembit, Matulis, Daumantas, Tapaloaga, Dana, Janecke, Andres, Bown, James, Cruz, Karla Santa, Radecka, Iza, Ozturk, Celal, Nalbantoglu, Ozkan Ufuk, Sag, Sebnem Ozemri, Ko, Kisung, Arngrimsson, Reynir, Belo, Isabel, Akalin, Hilal, and Dundar, Munis
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- 2024
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34. Deconstructing controversies to design a trustworthy AI future
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Trevisan, Francesca, Troullinou, Pinelopi, Kyriazanos, Dimitris, Fisher, Evan, Fratantoni, Paola, Sir, Claire Morot, and Bertelli, Virginia
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- 2024
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35. ESTRATÉGIA DE GESTÃO DE ESTOQUE PARA OTIMIZAÇÃO DA DISTRIBUIÇÃO DE CONCENTRADO DE HEMÁCIAS E REDUÇÃO DE DESCARTES NAS AGÊNCIAS TRANSFUSIONAIS DO HEMONÚCLEO DE APUCARANA-PR
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CR Rosina, VSC Bertelli, and JF Bilobran
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Diseases of the blood and blood-forming organs ,RC633-647.5 - Abstract
Objetivos: Os objetivos deste trabalho foram estabelecer um estoque de segurança de concentrado de hemácias, ajustado com base no histórico de demanda para três agências transfusionais atendidas pelo Hemonúcleo de Apucarana: Honpar, Hospital da Providência e Labora e também obter a redução de descarte por vencimento de hemácias nestas agências. Material e métodos: Para estabelecer o estoque de segurança, foram coletados dados de 36 meses de cada agência, abrangendo: distribuição, descarte e estoque de hemácias. Os registros de distribuição foram obtidos do sistema informatizado SBSWeb, sendo os dados categorizados por tipo sangupineo e fator Rh. As informações sobre descarte foram consultadas por no sistema novo SHTweb. Já os dados de estoque no primeiro dia do mês, foram fornecidos pela agência ao hemonúcleo. Os dados foram organizados em uma planilha elaborada na suíte de escritórios de código aberto LibreOffice, versão 24.2.1, para análise estatística. Dessa forma, foram obtidos os quantitativos de distribuição, o percentual de descarte e o percentual de atendimento. A partir da planilha, foram calculadas as médias de distribuição por ABO/RH, além da média percentual de descarte por vencimento e do percentual de não atendimento à demanda solicitada. Esses cálculos foram realizados separadamente para cada agência. Resultados: Conseguiu-se chegar em um estoque de segurança de concentrado de hemácias para cada agência, considerando ABO/RH, facilitando a programação semanal de distribuição de hemácias para estas agências, bem como para facilitar o quantitativo a ser pedido pelas agências ao hemonúcleo. O descarte geral por vencimento das hemácias, sem considerar ABO/RH, apresentou uma considerável redução, principalmente na agência Honpar, responsável por cerca de 66 % da distribuição de hemácias do Hemonúcleo de Apucarana. Antes da implantação destes indicadores, o índice mensal de descarte chegava até 6%, ou seja, até 33 bolsas de hemácias, correspondendo a média de um dia de coleta do Hemonúcleo de Apucarana. Atualmente esta mesma agência, já houve meses com 0 % de descarte por vencimento, com a média anual atual de 1%. A agência do Hospital da Providência, responsável por cerca de 29 % da distribuição de hemácias, no início apresentava média anual de descarte por vencimento de 0,8% e atualmente sua média é 0,41%. Já a agência do Labora, responsável por cerca de 5% da distribuição de hemácias no início apresentava média anual de descarte por vencimento de 2% e atualmente sua média é 1,24 %. Discussão: Considerando que 33% das hemácias distribuídas pelo hemonúcleo citado são de origem da hemorrede, não sendo portanto a unidade autossuficiente e considerando que duas destas agências transfusionais não ficam localizadas no mesmo município do hemonúcleo, o estoque de segurança propicia uma melhor logística tanto para o hemonúcleo quanto para as agências. Também pode-se observar a considerável diminuição do descarte de hemácias, em todas as agências transfusionais atendidas. Estes resultados satisfatórios, com real possibilidade de implantação em outras unidades, por ser um método simples, foram possíveis pois houve parceria, colaboração, treinamento e comprometimento dos responsáveis pelas agências transfusionais, que se empenharam e entenderam a importância da gestão eficaz de estoque. Conclusão: Com a implantação do estoque de segurança e a redução de descarte de hemácias, conclui-se que os objetivos do trabalho foram atingidos, aprimorando assim o gerenciamento de estoque tanto do hemonúcleo de Apucarana quanto das agências transfusionais. Este bom gerenciamento de ambas as partes, reflete em economias no ciclo do sangue, promovendo a cada dia o uso racional de hemocomponentes.
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- 2024
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36. THE FIRST EOCENE BIRD FROM NORTHWESTERN ARGENTINA
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Sara Bertelli, Norberto Pedro Giannini, Daniel Alfredo García-López, Virginia Deraco, Judith Babot, Cecilia Del Papa, Matias Alberto Armella, Claudia Herrera, and Gerald Mayr
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Aves ,Eocene ,Paleogene ,Upper Lumbrera Formation ,Fossil man. Human paleontology ,GN282-286.7 ,Paleontology ,QE701-760 - Abstract
A new fossil bird is described from the Upper Lumbrera Formation of Northwestern Argentina. Lumbrerornis rougieri gen. et sp. nov. is represented by three-dimensionally preserved elements of the hindlimb of a single individual. Morphological comparative studies and particular characters of the tibiotarsus suggest that the new species might be related to the extinct clades Palaeotididae and Geranoididae of the Northern Hemisphere, which were recently hypothesized to be Paleogene palaeognathous birds. However, the fragmentary preservation of the new fossil prevents a confident systematic position. The Upper Lumbrera Formation is a widely recognized fossiliferous unit with a very rich fauna of mammals and other vertebrates (e.g., fishes, crocodilians, turtles, snakes). This is the first record of a three-dimensionally preserved fossil bird from the Eocene of northwestern Argentina and thus provides fresh evidence of the Eocene faunas from the area and improves our understanding of the poorly known early Paleogene avifaunas from South America.
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- 2024
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37. Acetylation of SAMHD1 at lysine 580 is crucial for blocking HIV-1 infection
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Angel Bulnes-Ramos, Kerstin Schott, Jesse Rabinowitz, Charlotte Luchsinger, Cinzia Bertelli, Eri Miyagi, Corey H. Yu, Mirjana Persaud, Caitlin Shepard, Renate König, Baek Kim, Dmitri N. Ivanov, Klaus Strebel, and Felipe Diaz-Griffero
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HIV-1 ,SAMHD1 ,restriction ,acetylation ,K580 ,innate immunity ,Microbiology ,QR1-502 - Abstract
ABSTRACT In humans, sterile alpha motif (SAM) domain- and histidine–aspartic acid (HD) domain-containing protein 1 (SAMHD1) is a dNTPase enzyme that prevents HIV-1 infection in non-cycling cells, such as differentiated THP-1 cells and human primary macrophages. Although phosphorylation of threonine 592 (T592) in SAMHD1 is recognized as the primary regulator of the ability to prevent HIV-1 infection, the contributions of SAMHD1 acetylation to this ability remain unknown. Mass spectrometry analysis of SAMHD1 proteins derived from cycling and non-cycling THP-1 cells, primary cycling B cells, and primary macrophages revealed that SAMHD1 is preferentially acetylated at lysine residues 354, 494, and 580 (K354, K494, and K580). In non-cycling cells, SAMHD1 is preferentially acetylated at K580, suggesting that this post-translational modification may contribute to the ability of SAMHD1 to block HIV-1 infection. Consistent with this finding, we found that mutations in K580 disrupted the ability of SAMHD1 to block HIV-1 infection without affecting the ability of SAMHD1 to deplete cellular dNTP levels. Gene editing of SAMHD1 in macrophage-like cells revealed that an intact K580 is required for HIV-1 restriction. This finding suggests that K580 acetylation in SAMHD1 is essential for blocking HIV-1 infection. More importantly, we found that a larger proportion of SAMHD1 featuring K580 acetylation could be detected in human primary macrophages when compared to human primary monocytes. In agreement, we found that SAMHD1 is acetylated during the monocyte-to-macrophage differentiation process. This finding agrees with the idea that the blockade of HIV-1 infection in macrophages requires SAMHD1 acetylation.IMPORTANCEThe natural inhibitor of HIV-1, sterile alpha motif (SAM) domain- and histidine–aspartic acid (HD) domain-containing protein 1 (SAMHD1), plays a pivotal role in preventing HIV-1 infection of macrophages and dendritic cells, which are vital components of the immune system. This study unveils that SAMHD1 undergoes post-translational modifications, specifically acetylation at lysines 354, 494, and 580. Our research underscores the significance of these modifications, demonstrating that acetylation at residue K580 is indispensable for SAMHD1's efficacy in blocking HIV-1 infection. Notably, K580 is found in a critical regulatory domain of SAMHD1, highlighting acetylation as a novel layer of SAMHD1 regulation for HIV-1 restriction in humans. A comprehensive understanding of the regulation mechanisms governing this anti-HIV-1 protein is crucial for leveraging nature's defense mechanisms against HIV-1 and could pave the way for innovative therapeutic strategies.
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- 2024
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38. In vivo reprogramming leads to premature death linked to hepatic and intestinal failure
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Parras, Alberto, Vílchez-Acosta, Alba, Desdín-Micó, Gabriela, Picó, Sara, Mrabti, Calida, Montenegro-Borbolla, Elena, Maroun, Céline Yacoub, Haghani, Amin, Brooke, Robert, del Carmen Maza, María, Rechsteiner, Cheyenne, Battiston, Fabrice, Branchina, Clémence, Perez, Kevin, Horvath, Steve, Bertelli, Claire, Sempoux, Christine, and Ocampo, Alejandro
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- 2023
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39. A novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dystrophy with situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts
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Giorgio Placidi, Elena D’Agostino, Paolo Enrico Maltese, Maria Cristina Savastano, Gloria Gambini, Stanislao Rizzo, Gabriele Bonetti, Matteo Bertelli, Pietro Chiurazzi, and Benedetto Falsini
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ARL2BP ,Syndromic rod-cone dystrophy ,Renal agenesis ,Cryptorchidism ,Internal medicine ,RC31-1245 ,Genetics ,QH426-470 - Abstract
Abstract Background This report presents a clinical case of syndromic rod-cone dystrophy due to a splice site variant in the ARL2BP gene causing situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts. The presence of renal agenesis and cryptorchidism expands the clinical manifestations due to ARL2BP variants. The detailed, long-term follow-up contributes valuable insights into disease progression, aiding clinical diagnosis and patient management. Case Presentation The male patient complained of photophobia as the first symptom when he was 20 years old followed by nyctalopia, loss of central visual acuity and peripheral visual field ten years later. Genetic analysis identified a likely pathogenic homozygous variant (c.294-1G > C) involving the splicing acceptor site of intron 4. Reported symptoms together with full-field stimulus threshold testing, electroretinogram and advanced multimodal imaging allowed us to recognize the typical characteristics of a mixed retinal dystrophy. Despite the end-stage retinal disease, this patient still retained a useful residual vision at 63 years and had a slow disease progression during the last 5 years of evaluation. Discussion and conclusions Our findings underscore the variable clinical presentation of ARL2BP variants, emphasizing the importance of a nuanced approach in diagnosing and managing patients. The presence of renal cysts warrants consideration of a differential diagnosis, particularly with Senior-Loken (SLS), Bardet-Biedl (BBS) and Joubert syndromes (JS) but also with Short Rib Thoracic Dysplasia 9, highlighting the need for careful phenotypic evaluation in these cases.
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- 2024
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40. Association of PD‐L1 expression with driver gene mutations and clinicopathological characteristics in non‐small cell lung cancer: A real‐world study of 10 441 patients
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Gonzalo Ruiz, Diego Enrico, Yamil D. Mahmoud, Alan Ruiz, María Florencia Cantarella, Laura Leguina, Mariana Barberis, Asunción Beña, Esteban Brest, Solange Starapoli, Andrea Mendoza Bertelli, Florencia Tsou, Carmen Pupareli, María Pía Coppola, Alejandra Scocimarro, Susana Sena, Patricio Levit, Aldo Perfetti, Enrique Aman, María Romina Girotti, Oscar Arrieta, Claudio Martín, and Rubén Salanova
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programmed death‐ligand 1 (PD‐L1) ,non‐small cell lung cancer (NSCLC) ,immunohistochemistry (IHC) ,driver mutations ,genomic alterations ,Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,RC254-282 - Abstract
Abstract Background Programmed death ligand‐1 (PD‐L1) expression is a well‐known predictive biomarker of response to immune checkpoint blockade in non‐small cell lung cancer (NSCLC). However, there is limited evidence of the relationship between PD‐L1 expression, clinicopathological features, and their association with major driver mutations in NSCLC patients in Latin America. Methods This retrospective study included patients from Argentina with advanced NSCLC, and centralized evaluation of PD‐L1 expression concurrently with genomic alterations in the driver genes EGFR, ALK, ROS1, BRAF, and/or KRAS G12C in FFPE tissue samples. Results A total of 10 441 patients with advanced NSCLC were analyzed. Adenocarcinoma was the most frequent histological subtype (71.1%). PD‐L1 expression was categorized as PD‐L1 negative (45.1%), PD‐L1 positive low‐expression 1%–49% (32.3%), and PD‐L1 positive high‐expression ≥50% (22.6%). Notably, current smokers and males were more likely to have tumors with PD‐L1 tumor proportion score (TPS) ≥50% and ≥ 80% expression, respectively (p
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- 2024
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41. BUTTER AND LARD AS COATING MATERIALS IN BEEF AGING: OVERALL, LIPID-COATED AGING DID NOT SHOW CLEAR ADVANTAGES OVER WET AGING
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Rezende-De-Souza, Jonata Henrique, Blanco, Gabriel Barao Arias, and Pflanzer, Sergio Bertelli
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Butter ,Beef ,Dairy industry ,Business ,Food and beverage industries - Abstract
Beef tenderness is a crucial attribute for consumers and can be enhanced by aging, which uses endogenous enzymes to alter the structure of meat fibers. The main aging techniques is [...]
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- 2024
42. Autism and psychopathology - prevalence, identification, and symptoms equivalence: study protocol
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Marco O. Bertelli, Annamaria Bianco, Shoumitro Deb, Daniela Scuticchio, Shaniko Kaleci, and Maria Luisa Scattoni
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Autism spectrum disorder ,intellectual disabilities ,psychopathology ,psychiatric disorders ,prevalence ,Psychiatry ,RC435-571 - Abstract
ObjectiveDespite increasing evidence of high psychopathological vulnerability in people with Autism Spectrum Disorder (ASD) and/or Intellectual disability (ID), comprehensive data on prevalence and presentation of psychiatric disorders (PD) in people with significant cognitive and communication impairment are lacking. The extent to which PD can present with behavioral/observable symptoms and include Problem Behaviors (PB) has also been scarcely evaluated through population-based studies. The paper presents the protocol of a cross-sectional study aimed at filling these gaps, referred to a large multicentric Italian population-based sample of adolescents and adults.MethodsA battery of validated scales, SPAIDD, DASH-II, DiBAS-R, and STA-DI, is used to support and control for clinical diagnoses of PD. Study population is stratified according to different independent variables such as the severity of ID and ASD, gender, age group, and source of recruitment. A network analysis will be carried out to identify the most central behavioral symptoms for the various PD and their relationship with PB. Overlap between psychiatric symptoms and ASD and ID phenotypes is also addressed.Results and ConclusionThis study should provide valuable insight into better diagnostic accuracy, leading to well-informed interventions to improve the quality of life of people with ASD and/or ID.
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- 2024
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43. Ten Myths in Nerve Surgery
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Liron S. Duraku, PhD, Kyle R. Eberlin, MD, Amy Moore, MD, Johnny Lu, MD, Tahseen Chaudhry, MD, Samuel George, MD, Abdus S. Burahee, MD, J. Michiel Zuidam, PhD, Jayme Bertelli, MD, and Dominic M. Power, MD
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Surgery ,RD1-811 - Abstract
Background:. Surgical innovation has provided new options for the management of complex peripheral nerve injuries, generating renewed interest in this field. Historic literature may be misinterpreted or misquoted, or create dogma, which is perpetuated in teaching, research publications, and clinical practice. The management of peripheral nerve injuries is based on complex decision-making, with potential lifelong ramifications for patients incorrectly receiving an expectant or surgical management plan. Methods:. This article includes opinion from expert leaders in the field of peripheral nerve surgery and questions some of the current assumptions and preconceptions around nerve surgery based on clinical evidence. There was extensive debate regarding the contents of the final article, and the different opinions expressed represent the uncertainty in this field and the differing levels of confidence in available published evidence. Results:. Individual practices vary and, therefore, absolute consensus is impossible to achieve. The work is presented as 10 myths which are assessed using both historical and emerging evidence, and areas of uncertainty are discussed. Conclusions:. It is important to learn lessons from the past, and scholars of history bear the task of ensuring references are accurately quoted. Expunging myths will enhance care for patients, focus research efforts, and expand on the surgical possibilities within this specialty.
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- 2024
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44. Effects of COVID-19-targeted non-pharmaceutical interventions on pediatric emergency department use: a quasi-experimental study interrupted time-series analysis in North Italian hospitals, 2017 to 2022
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Matteo Puntoni, Giuseppe Maglietta, Caterina Caminiti, Angela Miniaci, Marcello Lanari, Fabio Caramelli, Federico Marchetti, Alessandro De Fanti, Lorenzo Iughetti, Giacomo Biasucci, Agnese Suppiej, Andrea Miceli, Chiara Ghizzi, Gianluca Vergine, Melodie Aricò, Marcello Stella, Susanna Esposito, the Emilia-Romagna Paediatric COVID-19 network, Francesca Diodati, Chiara Maria Palo, Luca Bertelli, Giovanni Biserni, Angela Troisi, Alessandra Iacono, Federico Bonvicini, Domenico Bartolomeo, Andrea Trombetta, Tommaso Zini, Nicoletta de Paulis, Cristina Forest, Battista Guidi, Francesca Di Florio, Enrico Valletta, Francesco Accomando, Greta Ramundo, Alberto Argentiero, Valentina Fainardi, and Michela Deolmi
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COVID-19 epidemiology ,Non-Pharmaceutical Intervention ,quasi-experimental design ,Interrupted Time Series regression analysis ,Diseases of the Respiratory System ,mental disorders ,Public aspects of medicine ,RA1-1270 - Abstract
BackgroundThe use of Non-Pharmaceutical Interventions (NPIs) during the COVID-19 pandemic is debated. Understanding the consequences these measures may have on vulnerable populations including children and adolescents is important.MethodsThis is a multicenter, quasi-experimental before-after study involving 12 hospitals of the North Italian Emilia-Romagna Region, with NPI implementation as the intervention event. The 3 years preceding NPI implementation (in March 2020) constituted the pre-pandemic phase. The subsequent 2 years were further subdivided into a school closure phase (SC) and a subsequent mitigation measures phase (MM) with milder restrictions. Interrupted Time Series (ITS) regression analysis was used to calculate PED Standardized Incidence Rate Ratios (SIRR) on the diagnostic categories exhibiting the greatest frequency and/or variation.ResultsIn the 60 months of the study there were 765,215 PED visits. Compared to the pre-pandemic rate, overall PED presentations dropped by 58 and 39% during SC and MM, respectively. “Symptoms, signs and Ill-defined conditions,” “Injury and poisoning” and “Diseases of the Respiratory System” accounted for 74% of the reduction. A different pattern was instead seen for “Mental Disorders,” which exhibited the smallest decrease during SC, and is the only category which rose already at the end of SC. ITS analysis confirmed the strong decrease during SC (level change, IRR 0.17, 95%CI 0.12–0.27) and a significant increase in MM (slope change, IRR 1.23, 95%CI 1.13–1.33), with the sharpest decline (−94%) and rise (+36%) observed in the “Diseases of the Respiratory System” category. Mental Disorders showed a significant increasing trend of 1% monthly over the whole study period exceeding pre-pandemic levels at the end of MM. Females and adolescents showed higher increasing rates both in SC and MM.ConclusionNPIs appear to have influenced PED attendance in different ways according to diagnostic categories, mirroring different mechanisms of action. These effects are beneficial in some cases and harmful in others, and establishing a clear balance between pros and cons is a difficult task for public health decision makers. The role of NPIs on PED use appropriateness deserves investigation. The rise in pediatric mental disorders independent of the pandemic makes interventions addressing these issues urgent.
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- 2024
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45. zDB: bacterial comparative genomics made easy
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Bastian Marquis, Trestan Pillonel, Alessia Carrara, and Claire Bertelli
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comparative genomics ,microbial genomics ,genome visualization ,Microbiology ,QR1-502 - Abstract
ABSTRACT The analysis and comparison of genomes rely on different tools for tasks such as annotation, orthology prediction, and phylogenetic inference. Most tools are specialized for a single task, and additional efforts are necessary to integrate and visualize the results. To fill this gap, we developed zDB, an application integrating a Nextflow analysis pipeline and a Python visualization platform built on the Django framework. The application is available on GitHub (https://github.com/metagenlab/zDB) and from the bioconda channel. Starting from annotated Genbank files, zDB identifies orthologs and infers a phylogeny for each orthogroup. A species phylogeny is also constructed from shared single-copy orthologs. The results can be enriched with Pfam protein domain prediction, Cluster of Orthologs Genes and Kyoto Encyclopedia of Genes and Genomes annotations, and Swissprot homologs. The web application allows searching for specific genes or annotations, running Blast queries, and comparing genomic regions and whole genomes. The metabolic capacities of organisms can be compared at either the module or pathway levels. Finally, users can run queries to examine the conservation of specific genes or annotations across a chosen subset of genomes and display the results as a list of genes, Venn diagram, or heatmaps. Those features make zDB useful for both bioinformaticians and researchers more accustomed to laboratory research.IMPORTANCEGenome comparison and analysis rely on many independent tools, leaving to scientists the burden to integrate and visualize their results for interpretation. To alleviate this burden, we have built zDB, a comparative genomics tool that includes both an analysis pipeline and a visualization platform. The analysis pipeline automates gene annotation, orthology prediction, and phylogenetic inference, while the visualization platform allows scientists to easily explore the results in a web browser. Among other features, the interface allows users to visually compare whole genomes and targeted regions, assess the conservation of genes or metabolic pathways, perform Blast searches, or look for specific annotations. Altogether, this tool will be useful for a broad range of applications in comparative studies between two and hundred genomes. Furthermore, it is designed to allow sharing of data sets easily at a local or international scale, thereby supporting exploratory analyses for non-bioinformaticians on the genome of their favorite organisms.
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- 2024
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46. Updating Prospective Self-Efficacy Beliefs About Cardiac Interoception in Anorexia Nervosa: An Experimental and Computational Study
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Alkistis Saramandi, Laura Crucianelli, Athanasios Koukoutsakis, Veronica Nisticò, Liza Mavromara, Diana Goeta, Giovanni Boido, Fragiskos Gonidakis, Benedetta Demartini, Sara Bertelli, Orsola Gambini, Paul M. Jenkinson, and Aikaterini Fotopoulou
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interoception ,anorexia nervosa ,self-efficacy ,belief update ,bayesian learning framework ,metacognition ,Computer applications to medicine. Medical informatics ,R858-859.7 ,Psychiatry ,RC435-571 ,Consciousness. Cognition ,BF309-499 - Abstract
Patients with anorexia nervosa (AN) typically hold altered beliefs about their body that they struggle to update, including global, prospective beliefs about their ability to know and regulate their body and particularly their interoceptive states. While clinical questionnaire studies have provided ample evidence on the role of such beliefs in the onset, maintenance, and treatment of AN, psychophysical studies have typically focused on perceptual and ‘local’ beliefs. Across two experiments, we examined how women at the acute AN (N = 86) and post-acute AN state (N = 87), compared to matched healthy controls (N = 180) formed and updated their self-efficacy beliefs retrospectively (Experiment 1) and prospectively (Experiment 2) about their heartbeat counting abilities in an adapted heartbeat counting task. As preregistered, while AN patients did not differ from controls in interoceptive accuracy per se, they hold and maintain ‘pessimistic’ interoceptive, metacognitive self-efficacy beliefs after performance. Modelling using a simplified computational Bayesian learning framework showed that neither local evidence from performance, nor retrospective beliefs following that performance (that themselves were suboptimally updated) seem to be sufficient to counter and update pessimistic, self-efficacy beliefs in AN. AN patients showed lower learning rates than controls, revealing a tendency to base their posterior beliefs more on prior beliefs rather than prediction errors in both retrospective and prospective belief updating. Further explorations showed that while these differences in both explicit beliefs, and the latent mechanisms of belief updating, were not explained by general cognitive flexibility differences, they were explained by negative mood comorbidity, even after the acute stage of illness.
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- 2024
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47. Recommendations for recognizing, risk stratifying, treating, and managing children and adolescents with hypoglycemia
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Stefano Zucchini, Stefano Tumini, Andrea Enzo Scaramuzza, Riccardo Bonfanti, Maurizio Delvecchio, Roberto Franceschi, Dario Iafusco, Lorenzo Lenzi, Enza Mozzillo, Stefano Passanisi, Claudia Piona, Ivana Rabbone, Novella Rapini, Andrea Rigamonti, Carlo Ripoli, Giuseppina Salzano, Silvia Savastio, Riccardo Schiaffini, Angela Zanfardino, Valentino Cherubini, Diabetes Study Group of the Italian Society for Pediatric Endocrinology Diabetes, Albino Claudia Accursia, Aloe Monica, Anzelotti Maria Teresa, Arnaldi Claudia, Barbetti Fabrizio, Bassi Marta, Berioli Maria Giulia, Bernardini Luca, Bertelli Enrica, Biagioni Martina, Bobbio Adriana, Bombaci Bruno, Bonfanti Riccardo, Bonura Clara, Bracciolini Giulia Patrizia, Bruzzese Mariella, Bruzzi Patrizia, Buono Pietro, Buscarino Piera, Cadario Francesco, Calcaterra Valeria, Calzi Elena, Cappa Marco, Cardani Roberta, Cardella Francesca, Cardinale Giuliana Marcella, Casertano Alberto, Castorani Valeria, Cauvin Vittoria, Cenciarelli Valentina, Ceruti Franco, Cherubini Valentino, Chiarelli Francesco, Chiari Giovanni, Cianfarani Stefano, Cicchetti Mario, Cipriano Paola, Cirillo Dante, Citriniti Felice, Coccioli Maria Susanna, Confetto Santino, Contreas Giovanna, Coro Anna, Correddu Antonella, Corsini Elisa, Crino’ Antonino, d’Annunzio Giuseppe, De Berardinis Fiorella, De Donno Valeria, De Filippo Gianpaolo, De Marco Rosaria, De Sanctis Luisa, Del Duca Elisabetta, Delvecchio Maurizio, Deodati Annalisa, Di Bonito Procolo, Di Candia Francesca, Faleschini Elena, Fattorusso Valentina, Favia Anna, Federico Giovanni, Felappi Barbara, Ferrari Mara, Ferrito Lucia, Fichera Graziella, Fontana Franco, Fornari Elena, Franceschi Roberto, Franco Francesca, Franzese Adriana, Frongia Anna Paola, Frontino Giulio, Gaiero Alberto, Galassi Sabrina Maria, Gallo Francesco, Gargantini Luigi, Giani Elisa, Gortan Anna Jolanda, Graziani Vanna, Grosso Caterina, Gualtieri Antonella, Guasti Monica, Guerraggio Lucia Paola, Guzzetti Chiara, Iafusco Dario, Iannicelli Gennaro, Iezzi Maria Laura, Ignaccolo Maria Giovanna, Innaurato Stefania, Inzaghi Elena, Iovane Brunella, Iughetti Lorenzo, Kaufmann Peter, La Loggia Alfonso, Lambertini Anna Giulia, Lapolla Rosa, Lasagni Anna, Lazzaro Nicola, Lazzeroni Pietro, Lenzi Lorenzo, Lera Riccardo, Levantini Gabriella, Lezzi Marilea, Lia Rosanna, Liguori Alice, Lo Presti Donatella, Lombardo Fortunato, Lonero Antonella, Longhi Silvia, Lorubbio Antonella, Lucchesi Sonia, Maccioni Rosella, Macedoni Maddalena, Macellaro Patrizia Cristiana, Madeo Simona Filomena, Maffeis Claudio, Mainetti Benedetta, Maltoni Giulio, Mameli Chiara, Mammì Francesco, Manca Bitti Maria Luisa, Mancioppi Valentina, Manco Melania, Marigliano Marco, Marino Monica, Marsciani Alberto, Matteoli Maria Cristina, Mazzali Elena, Minute Marta, Minuto Nicola, Monti Sara, Morandi Anita,, Morganti Gianfranco, Morotti Elisa, Mozzillo Enza, Musolino Gianluca, Olivieri Francesca, Ortolani Federica, Pampanini Valentina, Pardi Daniela, Pascarella Filomena, Pasquino Bruno, Passanisi Stefano, Patera Ippolita Patrizia, Pedini Annalisa, Pennati Maria Cristina, Peruzzi Sonia, Peverelli Paola, Pezzino Giulia, Piccini Barbara, Piccinno Elvira Eugenia Rosaria, Piona Claudia, Piredda Gavina, Piscopo Alessia, Pistone Carmelo, Pozzi Erica, Prandi Elena, Predieri Barbara, Prudente Sabrina, Pulcina Anna, Rabbone Ivana, Randazzo Emioli, Rapini Novella, Reinstadler Petra, Riboni Sara, Ricciardi Maria Rossella, Rigamonti Andrea, Ripoli Carlo, Rossi Virginia, Rossi Paolo, Rutigliano Irene, Sabbion Alberto, Salvatoni Alessandro, Salvo Caterina, Salzano Giuseppina, Sanseviero Mariateresa, Savastio Silvia, Savini Rosanna, Scanu Mariapiera, Scaramuzza Andrea Enzo, Schiaffini Riccardo, Schiavone Maurizio, Schieven Eleonardo, Scipione Mirella, Secco Andrea, Silvestri Francesca, Siri Giulia, Sogno Valin Paola, Sordelli Silvia, Spiri Daniele, Stagi Stefano, Stamati Filomena Andreina, Suprani Tosca, Talarico Valentina, Tiberi Valentina, Timpanaro Tiziana Antonia Lucia, Tinti Davide, Tirendi Antonina, Tomaselli Letizia Grazia, Toni Sonia, Torelli Cataldo, Tornese Gianluca, Trada Michela,, Trettene Adolfo Andrea, Tumini Stefano, Tumminelli Marilena, Valerio Giuliana, Vandelli Sara, Ventrici Claudia, Zampolli Maria, Zanatta Manuela, Zanfardino Angela, Zecchino Clara, Zonca Silvia, and Zucchini Stefano
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adolescents ,automated insulin delivery ,children ,hypoglycemia ,glucagon ,oral glucose ,Diseases of the endocrine glands. Clinical endocrinology ,RC648-665 - Abstract
There has been continuous progress in diabetes management over the last few decades, not least due to the widespread dissemination of continuous glucose monitoring (CGM) and automated insulin delivery systems. These technological advances have radically changed the daily lives of people living with diabetes, improving the quality of life of both children and their families. Despite this, hypoglycemia remains the primary side-effect of insulin therapy. Based on a systematic review of the available scientific evidence, this paper aims to provide evidence-based recommendations for recognizing, risk stratifying, treating, and managing patients with hypoglycemia. The objective of these recommendations is to unify the behavior of pediatric diabetologists with respect to the timely recognition and prevention of hypoglycemic episodes and the correct treatment of hypoglycemia, especially in patients using CGM or advanced hybrid closed-loop systems. All authors have long experience in the specialty and are members of the Italian Society of Pediatric Endocrinology and Diabetology. The goal of treating hypoglycemia is to raise blood glucose above 70 mg/dL (3.9 mmol/L) and to prevent further decreases. Oral glucose at a dose of 0.3 g/kg (0.1 g/kg for children using “smart pumps” or hybrid closed loop systems in automated mode) is the preferred treatment for the conscious individual with blood glucose
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- 2024
- Full Text
- View/download PDF
48. Mining for sand extraction-Rio Grande: Brazilian environmental legislation applied / Mineracao para extracao de areia-Rio Grande: legislacao ambiental brasileira aplicada
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de Souza, Guilherme Silva, Soares, Pedro Augusto, Filho, Luiz Otavio Moras, Santos, Gustavo Soares, Marotta, Luiza Ignez Mollica, Clemente, Guilherme Augusto Bertelli Fernandes, de Oliveira, Clayton Reis, and Cunha, Fabiano Martins
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- 2023
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49. An Examination of Student and Faculty Perceptions Regarding Music Education Transfer Student Preparedness and Experiences
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Steele Royston, Natalie, Payne, Phillip D., Barnes, Adrian D., and Bertelli-Wilinski, Kate
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Transfer students account for growing numbers in four-year music education programs. To better understand this increasing population of students, researchers employed parallel method design. One strand investigated music education faculty members' (n = 83) perceptions of transfer student preparedness, procedures, and expectations to understand admissions processes (e.g., curricula, assessments) employed to evaluate incoming transfer students. The other strand examined music education transfer students' (n = 12) academic, social, and personal preparedness to study music education in a comprehensive four-year music education program. The following research questions served as a guide for data collection and analysis: (a) What themes emerged for students throughout the investigation of the transfer process? (b) What are transfer students' perceptions of academic and musical preparedness once making the transition to four-year institutions? and (c) What are college professors' perceptions of transfer students' academic and musical preparedness upon arrival at four-year institutions? Findings from both student and faculty perspectives suggest that transfer students exhibit three common concerns throughout the transfer process. These concerns were academic, social, and personal. Further, transfer students' preparedness also emerged as a theme mentioned by music faculty as an obstacle for incoming students. Themes also included performance on departmental diagnostic assessments, various modes of communication among music faculty (i.e., applied, classroom), students, and university/college administrative personnel. Researchers provide an analysis and suggestions for addressing these concerns from multiple perspectives as well as suggestions for future research.
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- 2021
50. Assessing the efficacy of an innovative diagnostic method for identifying 5 % variants in somatic ctDNA
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Mareso, Chiara, Crosta, Luca, De Vita, Mattia Giovanna, Cristofoli, Francesca, Tanzi, Benedetta, Benedetti, Sabrina, Bonetti, Gabriele, Donofrio, Carmine Antonio, Cominetti, Marika, Riccio, Lucia, Fioravanti, Antonio, Generali, Daniele, Lucci Cordisco, Emanuela, Chiurazzi, Pietro, Gatta, Valentina, Stuppia, Liborio, Cecchin, Stefano, Bertelli, Matteo, and Marceddu, Giuseppe
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- 2024
- Full Text
- View/download PDF
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