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2,370 results on '"Bertoli P"'

1. Stability of stationary states for mean field models with multichromatic interaction potentials

Author

Bertoli, Benedetta, Goddard, Benjamin D., and Pavliotis, Grigorios A.

Subjects
Mathematical Physics, Mathematics - Numerical Analysis
Abstract

We consider weakly interacting diffusions on the torus, for multichromatic interaction potentials. We consider interaction potentials that are not H-stable, leading to phase transitions in the mean field limit. We show that the mean field dynamics can exhibit multipeak stationary states, where the number of peaks is related to the number of nonzero Fourier modes of the interaction. We also consider the effect of a confining potential on the structure of non-uniform steady states. We approach the problem by means of analysis, perturbation theory and numerical simulations for the interacting particle systems and the PDEs., Comment: 25 pages, 15 figures

Published
2024

2. Decolonizing Western Science Education and Knowledge in Early Childhood: Rethinking Natural Hazards and Disasters Framework through Indigenous 'Ecology of Knowledges' in Kenya

Author

Anny Bertoli, John Teria Ng'asike, Stefania Amici, Andrew Madjar, and Marek Tesar

Abstract

This article presents the epistemological complexity inherent in the roll out of an international project on Disaster and Risk Reduction, and consequently about science education in the Indigenous context of Turkana County in Kenya. After an introduction that explains the current state of Disaster and Risk Reduction, the paper focuses on the 'Paper Volcanoes Laboratory' program and toolkit for children and teachers, which aims to spread awareness about natural hazards among children. The paper argues that the geographical, social and educational context where the project is carried out is critical to consider, and decolonial studies provide a conceptual and theoretical framework for this project. This allows to recognize reproduction of infantilization of Indigenous people and children through Western knowledge and science if implemented without consideration for local contexts, and demonstrates how Western educational projects have been a tool of discrimination and colonization. However, at the same time, it opens up the possibility for a dialogue and an encounter between the different epistemologies present in a project that was conceptualized within the Western context, but is to be carried out in Turkana County in Kenya.

Published
2024
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5. Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations

Author

Chundru, V. Kartik, Zhang, Zhancheng, Walter, Klaudia, Lindsay, Sarah J., Danecek, Petr, Eberhardt, Ruth Y., Gardner, Eugene J., Malawsky, Daniel S., Wigdor, Emilie M., Torene, Rebecca, Retterer, Kyle, Wright, Caroline F., Ólafsdóttir, Hildur, Guillen Sacoto, Maria J., Ayaz, Akif, Akbeyaz, Ismail Hakki, Türkdoğan, Dilşad, Al Balushi, Aaisha Ibrahim, Bertoli-Avella, Aida, Bauer, Peter, Szenker-Ravi, Emmanuelle, Reversade, Bruno, McWalter, Kirsty, Sheridan, Eamonn, Firth, Helen V., Hurles, Matthew E., Samocha, Kaitlin E., Ustach, Vincent D., and Martin, Hilary C.

Published
2024
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6. Facing the challenges to shorten the diagnostic odyssey: first Whole Genome Sequencing experience of a Colombian cohort with suspected rare diseases

Author

Velasco, Harvy Mauricio, Bertoli-Avella, Aida, Jaramillo, Carolina Jaramillo, Cardona, Danny Styvens, González, Leonel Andrés, Vanegas, Melisa Naranjo, Arango, Juan Pablo Valencia, Buitrago, Cesar Augusto, González, Jorge Alberto Gutiérrez, Marcello, Jonas, Bauer, Peter, and Moncada, Juliana Espinosa

Published
2024
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7. Molecular relapse after first-line intensive therapy in patients with CBF or NPM1-mutated acute myeloid leukemia – a FILO study

Author

Orvain, Corentin, Bertoli, Sarah, Peterlin, Pierre, Desbrosses, Yohann, Dumas, Pierre-Yves, Iat, Alexandre, Hospital, Marie-Anne, Carre, Martin, Tavernier, Emmanuelle, Riou, Jérémie, Bouvier, Anne, Bidet, Audrey, Tondeur, Sylvie, Renosi, Florian, Mozziconacci, Marie-Joelle, Flandrin-Gresta, Pascale, Dadone-Montaudié, Bérengère, Delabesse, Eric, Pigneux, Arnaud, Hunault-Berger, Mathilde, and Recher, Christian

Published
2024
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8. Publisher Correction: How does damage control strategy influence organ's suitability for donation after major trauma? A multi-institutional study

Author

Altomare, Michele, Bekhor, Shir Sara, Sacchi, Marco, Ambrogi, Federico, Infante, Gabriele, Chieregato, Arturo, Pozzi, Federico, De Feo, Tullia Maria, Nava, Lorenza, Masturzo, Elisabetta, Del Prete, Luca, Perali, Carolina, Manzo, Elena, Bertoli, Paolo, Virdis, Francesco, Spota, Andrea, Cioffi, Stefano Piero Bernardo, Benuzzi, Laura, Santolamazza, Giuliano, Podda, Mauro, Mingoli, Andrea, Chiara, Osvaldo, and Cimbanassi, Stefania

Published
2024
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9. COVID-19 Scientific Literacy in Medical and Nursing Students

Author

Cabreja-Castillo, Maria, Hernandez, Leislany, Mustafa, Alicia, Hungria, Gregory, and Bertoli, Maria T.

Abstract

The pandemic brought a whole newfound collection of words into our everyday language, some of which had been terms that were infrequently used outside academic and medical settings. However, as familiar as this new pandemic vocabulary has become, there are still several terms that often get mixed in everyday conversations, media communications, and even in the medical field. Some of these terms are often mistaken, which may lead to issues in the understanding of important concepts. Science communication, as a facet of scientific literacy, intends to educate people in an easy-to-understand manner, and this communication is even more important in health care, when a literate patient's medical decisions depend frequently on this process. In this article, we explore the use and misuse of some of the most common terms utilized during the 2019 coronavirus disease (COVID-19) pandemic by nursing and medical students, i.e., future health care professionals, in the hospital environment. This single-center hospital-based cross-sectional study, performed throughout September 2022, included 30 medical and nursing students. All participants completed a self-administered 15-item anonymous questionnaire at a single time point. Nine multiple-choice questions evaluated knowledge, diagnosis, disease manifestations, and vaccines related to the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) virus. Six questions provided demographics and quality assessment information. The analysis of the answers indicated that for at least 75% of the population surveyed, COVID-19 literacy was better for terms related to technology and actions (3/5 questions answered correctly) than for terms related to the disease (1/4 questions answered correctly). The overall median score for questions 1 to 9 was 4.5 of 9 points in total. Based on the results, the language used in the questionnaire was considered easy to understand, with an easy to medium level of complexity, and the perceived time required to complete the questionnaire was less than 5 min. In conclusion, our results showed that efforts need to be made in continuous professional education to increase the knowledge in COVID-19 literacy in the health care environment for medical and nursing students. Larger studies are recommended to identify and to fulfill the challenges that COVID-19 brought to medical and nursing education.

Published
2023

11. Cardiovascular Benefits of GLP-1 Receptor Agonists in Patients Living with Obesity or Overweight: A Meta-analysis of Randomized Controlled Trials

Author

de Oliveira Almeida, Gustavo, Nienkötter, Thiago Faraco, Balieiro, Caroline Cristine Almeida, Pasqualotto, Eric, Cintra, Júlia Braga, Carvalho, Henrique Champs Porfírio, Silva, Ana Laura Soares, Kabariti, Júlia Camargo, Minucci, Bárbara Silvestre, Bertoli, Edmundo Damiani, and Guida, Camila Mota

Published
2024
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13. Transcutaneous vagus nerve stimulation has no anti-inflammatory effect in diabetes

Author

Tina Okdahl, Huda Kufaishi, Ditte Kornum, Davide Bertoli, Klaus Krogh, Filip K.Knop, Christian Stevns Hansen, Joachim Størling, Peter Rossing, Birgitte Brock, Asbjørn M. Drewes, and Christina Brock

Subjects
Diabetes, Inflammation, Vagus nerve stimulation, Autonomic neuropathy, Medicine, Science
Abstract

Abstract Chronic inflammation is associated with diabetes and contributes to the development and progression of micro- and macrovascular complications. Transcutaneous vagus nerve stimulation (tVNS) has been proposed to reduce levels of circulating inflammatory cytokines in non-diabetics by activating the cholinergic anti-inflammatory pathway. We investigated the anti-inflammatory potential of tVNS as a secondary endpoint of a randomized controlled trial in people with diabetes (NCT04143269). 131 people with diabetes (type 1: n = 63; type 2: n = 68), gastrointestinal symptoms and various degrees of autonomic neuropathy were included and randomly assigned to self-administer active (n = 63) or sham (n = 68) tVNS over two successive study periods: (1) Seven days with four daily administrations and, (2) 56 days with two daily administrations. Levels of systemic inflammatory cytokines (IL-6, IL-8, IL-10, TNF-α, IFN-γ) were quantified from blood samples by multiplex technology. Information regarding age, sex, diabetes type, and the presence of cardiac autonomic neuropathy (CAN) was included in the analysis as possible confounders. No differences in either cytokine were seen after study period 1 and 2 between active and sham tVNS (all p-values > 0.08). Age, sex, diabetes type, presence of CAN, and baseline levels of inflammatory cytokines were not associated with changes after treatment (all p-values > 0.07). A tendency towards slight reductions in TNF-α levels after active treatment was observed in those with no CAN compared to those with early or manifest CAN (p = 0.052). In conclusion, tVNS did not influence the level of systemic inflammation in people with diabetes.

Published
2024
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14. Decrease of haemoconcentration reliably detects hydrostatic pulmonary oedema in dyspnoeic patients in the emergency department – a machine learning approach

Author

Francesco Gavelli, Luigi Mario Castello, Xavier Monnet, Danila Azzolina, Ilaria Nerici, Simona Priora, Valentina Giai Via, Matteo Bertoli, Claudia Foieni, Michela Beltrame, Mattia Bellan, Pier Paolo Sainaghi, Nello De Vita, Filippo Patrucco, Jean-Louis Teboul, and Gian Carlo Avanzi

Subjects
Pulmonary edema, Lung water, Haemoconcentration, Haemodilution, Augmented intelligence, Medical emergencies. Critical care. Intensive care. First aid, RC86-88.9
Abstract

Abstract Background Haemoglobin variation (ΔHb) induced by fluid transfer through the intestitium has been proposed as a useful tool for detecting hydrostatic pulmonary oedema (HPO). However, its use in the emergency department (ED) setting still needs to be determined. Methods In this observational retrospective monocentric study, ED patients admitted for acute dyspnoea were enrolled. Hb values were recorded both at ED presentation (T0) and after 4 to 8 h (T1). ΔHb between T1 and T0 (ΔHbT1-T0) was calculated as absolute and relative value. Two investigators, unaware of Hb values, defined the cause of dyspnoea as HPO and non-HPO. ΔHbT1-T0 ability to detect HPO was evaluated. A machine learning approach was used to develop a predictive tool for HPO, by considering the ability of ΔHb as covariate, together with baseline patient characteristics. Results Seven-hundred-and-six dyspnoeic patients (203 HPO and 503 non-HPO) were enrolled over 19 months. Hb levels were significantly different between HPO and non-HPO patients both at T0 and T1 (p

Published
2024
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15. Comprehensive analysis of ordering in CoCrNi and CrNi2 alloys

Author

Vinícius P. Bacurau, Pedro A. F. P. Moreira, Gustavo Bertoli, Angelo F. Andreoli, Eric Mazzer, Flávio F. de Assis, Piter Gargarella, Guilherme Koga, Guilherme C. Stumpf, Santiago J. A. Figueroa, Michael Widom, Michael Kaufman, Andrea Fantin, Yifan Cao, Rodrigo Freitas, Daniel Miracle, and Francisco G. Coury

Subjects
Science
Abstract

Abstract Chemical Short-Range Order (CSRO) has attracted recent attention from many researchers, creating intense debates about its impact on material properties. The challenges lie in confirming and quantifying CSRO, as its detection proves exceptionally demanding, contributing to conflicting data in the literature regarding its true effects on mechanical properties. Our work uses high-precision calorimetric data to unambiguously prove the existence and, coupled with atomistic simulations, quantify the type of CSRO. This methodology allows us to propose a mechanism for its formation and destruction based on the heat evolution during thermal analysis and facilitates a precise identification of local ordering in CoCrNi alloys. Samples of CoCrNi (Co33Cr33Ni33) and CrNi2 (Cr33Ni66) alloys are fabricated in varying ordered states, extensively characterized via synchrotron X-ray diffraction, X-ray absorption spectroscopy, and transmission electron microscopy. Samples with considerably different ordered states are submitted to tensile tests with in-situ synchrotron X-ray diffraction. We demonstrate, despite inducing varied CSRO levels in CoCrNi, no significant alterations in overall mechanical behavior emerge. However, the CrNi2 alloy, which undergoes long-range ordering, experiences significant shifts in yield strength, ultimate tensile stress and ductility.

Published
2024
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17. Comprehensive analysis of ordering in CoCrNi and CrNi2 alloys

Author

Bacurau, Vinícius P., Moreira, Pedro A. F. P., Bertoli, Gustavo, Andreoli, Angelo F., Mazzer, Eric, de Assis, Flávio F., Gargarella, Piter, Koga, Guilherme, Stumpf, Guilherme C., Figueroa, Santiago J. A., Widom, Michael, Kaufman, Michael, Fantin, Andrea, Cao, Yifan, Freitas, Rodrigo, Miracle, Daniel, and Coury, Francisco G.

Published
2024
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18. Decrease of haemoconcentration reliably detects hydrostatic pulmonary oedema in dyspnoeic patients in the emergency department – a machine learning approach

Author

Gavelli, Francesco, Castello, Luigi Mario, Monnet, Xavier, Azzolina, Danila, Nerici, Ilaria, Priora, Simona, Via, Valentina Giai, Bertoli, Matteo, Foieni, Claudia, Beltrame, Michela, Bellan, Mattia, Sainaghi, Pier Paolo, De Vita, Nello, Patrucco, Filippo, Teboul, Jean-Louis, and Avanzi, Gian Carlo

Published
2024
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19. Imatinib with intensive chemotherapy in AML with t(9;22)(q34.1;q11.2)/BCR::ABL1. A DATAML registry study

Author

Gondran, Camille, Dumas, Pierre-Yves, Bérard, Emilie, Bidet, Audrey, Delabesse, Eric, Tavitian, Suzanne, Leguay, Thibaut, Huguet, Françoise, Borel, Cécile, Forcade, Edouard, Vergez, François, Vial, Jean-Philippe, Rieu, Jean Baptiste, Lechevalier, Nicolas, Luquet, Isabelle, Canali, Alban, Klein, Emilie, Sarry, Audrey, de Grande, Anne-Charlotte, Pigneux, Arnaud, Récher, Christian, Largeaud, Laetitia, and Bertoli, Sarah

Published
2024
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20. Goodbye Hartmann trial: a prospective, international, multicenter, observational study on the current use of a surgical procedure developed a century ago

Author

Perrone, Gennaro, Giuffrida, Mario, Abu-Zidan, Fikri, Kruger, Vitor F., Livrini, Marco, Petracca, Gabriele Luciano, Rossi, Giorgio, Tarasconi, Antonio, Tian, Brian W. C. A., Bonati, Elena, Mentz, Ricardo, Mazzini, Federico N., Campana, Juan P., Gasser, Elisabeth, Kafka-Ritsch, Reinhold, Felsenreich, Daniel M., Dawoud, Christopher, Riss, Stefan, Gomes, Carlos Augusto, Gomes, Felipe Couto, Gonzaga, Ricardo Alessandro Teixeira, Canton, Cassio Alfred Brattig, Pereira, Bruno Monteiro, Fraga, Gustavo P., Zem, Leticia Gonçalves, Cordeiro-Fonseca, Vinicius, de Mesquita Tauil, Renato, Atanasov, Boyko, Belev, Nikolay, Kovachev, Nikola, Meléndez, L. Juan José, Dimova, Ana, Dimov, Stefan, Zelić, Zdravko, Augustin, Goran, Bogdanić, Branko, Morić, Trpimir, Chouillard, Elie, Bajul, Melinda, De Simone, Belinda, Panis, Yves, Esposito, Francesco, Notarnicola, Margherita, Lauka, Lelde, Fabbri, Anna, Hentati, Hassen, Fnaiech, Iskander, Aurélien, Venara, Bougard, Marie, Roulet, Maxime, Demetrashvili, Zaza, Pipia, Irakli, Merabishvili, Giorgi, Bouliaris, Konstantinos, Koukoulis, Georgios, Doudakmanis, Christos, Xenaki, Sofia, Chrysos, Emmanuel, Kokkinakis, Stamatios, Vassiliu, Panteleimon, Michalopoulos, Nikolaos, Margaris, Ioannis, Kechagias, Aristotelis, Avgerinos, Konstantinos, Katunin, Jevgeni, Lostoridis, Eftychios, Nagorni, Eleni-Aikaterini, Pujante, Antonio, Mulita, Francesk, Maroulis, Ioannis, Vailas, Michail, Marinis, Athanasios, Siannis, Ioannis, Bourbouteli, Eirini, Manatakis, Dimitrios K., Tasis, Nikolaos, Acheimastos, Vasileios, Maria, Sotiropoulou, Stylianos, Kapiris, Kuzeridis, Harilaos, Korkolis, Dimitrios, Fradelos, Evangelos, Kavalieratos, George, Petropoulou, Thalia, Polydorou, Andreas, Papacostantinou, Ioannis, Triantafyllou, Tania, Kimpizi, Despina, Theodorou, Dimitrios, Toutouzas, Konstantinos, Chamzin, Alexandros, Frountzas, Maximos, Schizas, Dimitrios, Karavokyros, Ioannis, Syllaios, Athanasios, Charalabopoulos, Alexandros, Boura, Maria, Baili, Efstratia, Ioannidis, Orestis, Loutzidou, Lydia, Anestiadou, Elissavet, Tsouknidas, Ioannis, Petrakis, Georgios, Polenta, Eleni, Bains, Lovenish, Gupta, Rahul, Singh, Sudhir K., Khanduri, Archana, Bala, Miklosh, Kedar, Asaf, Pisano, Marcello, Podda, Mauro, Pisanu, Adolfo, Martines, Gennaro, Trigiante, Giuseppe, Lantone, Giuliano, Agrusa, Antonino, Di Buono, Giuseppe, Buscemi, Salvatore, Veroux, Massimiliano, Gioco, Rossella, Veroux, Gastone, Oragano, Luigi, Zonta, Sandro, Lovisetto, Federico, Feo, Carlo V., Pesce, Antonio, Fabbri, Nicolò, Lantone, Giulio, Marino, Fabio, Perrone, Fabrizio, Vincenti, Leonardo, Papagni, Vincenzo, Picciariello, Arcangelo, Rossi, Stefano, Picardi, Biagio, Del Monte, Simone Rossi, Visconti, Diego, Osella, Giulia, Petruzzelli, Luca, Pignata, Giusto, Andreuccetti, Jacopo, D’Alessio, Rossella, Buonfantino, Massimo, Guaitoli, Eleonora, Spinelli, Stefano, Sampietro, Gianluca Matteo, Corbellini, Carlo, Lorusso, Leonardo, Frontali, Alice, Pezzoli, Isabella, Bonomi, Alessandro, Chierici, Andrea, Cotsoglou, Christian, Manca, Giuseppe, Delvecchio, Antonella, Musa, Nicola, Casati, Massimiliano, Letizia, Laface, Abate, Emmanuele, Ercolani, Giorgio, D’Acapito, Fabrizio, Solaini, Leonardo, Guercioni, Gianluca, Cicconi, Simone, Sasia, Diego, Borghi, Felice, Giraudo, Giorgio, Sena, Giuseppe, Castaldo, Pasquale, Cardamone, Eugenia, Portale, Giuseppe, Zuin, Matteo, Spolverato, Ylenia, Esposito, Marialusia, Isernia, Roberta Maria, Di Salvo, Maria, Manunza, Romina, Esposito, Giuseppe, Agus, Marcello, Asti, Emanuele Luigi Giuseppe, Bernardi, Daniele Tiziano, Tonucci, Tommaso Panici, Luppi, Davide, Casadei, Massimiliano, Bonilauri, Stefano, Pezzolla, Angela, Panebianco, Annunziata, Laforgia, Rita, De Luca, Maurizio, Zese, Monica, Parini, Dario, Jovine, Elio, De Sario, Giuseppina, Lombardi, Raffaele, Aprea, Giovanni, Palomba, Giuseppe, Capuano, Marianna, Argenio, Giulio, Orio, Gianluca, Armellino, Mariano Fortunato, Troian, Marina, Guerra, Martina, Nagliati, Carlo, Biloslavo, Alan, Germani, Paola, Aizza, Giada, Monsellato, Igor, Chahrour, Ali Chaouki, Anania, Gabriele, Bombardini, Cristina, Bagolini, Francesco, Sganga, Gabriele, Fransvea, Pietro, Bianchi, Valentina, Boati, Paolo, Ferrara, Francesco, Palmieri, Francesco, Cianci, Pasquale, Gattulli, Domenico, Restini, Enrico, Cillara, Nicola, Cannavera, Alessandro, Nita, Gabriela Elisa, Sarnari, Jlenia, Roscio, Francesco, Clerici, Federico, Scandroglio, Ildo, Berti, Stefano, Cadeo, Alessandro, Filippelli, Alice, Conti, Luigi, Grassi, Carmine, Cattaneo, Gaetano Maria, Pighin, Marina, Papis, Davide, Gambino, Giovanni, Bertino, Vanessa, Schifano, Domenico, Prando, Daniela, Fogato, Luisella, Cavallo, Fabio, Ansaloni, Luca, Picheo, Roberto, Pontarolo, Nicholas, Depalma, Norma, Spampinato, Marcello, D’Ugo, Stefano, Lepre, Luca, Capponi, Michela Giulii, Campa, Rossella Domenica, Sarro, Giuliano, Dinuzzi, Vincenza Paola, Olmi, Stefano, Uccelli, Matteo, Ferrari, Davide, Inama, Marco, Moretto, Gianluigi, Fontana, Michele, Favi, Francesco, Picariello, Erika, Rampini, Alessia, Barberis, Andrea, Azzinnaro, Antonio, Oliva, Alba, Totaro, Luigi, Benzoni, Ilaria, Ranieri, Valerio, Capolupo, Gabriella Teresa, Carannante, Filippo, Caricato, Marco, Ronconi, Maurizio, Casiraghi, Silvia, Casole, Giovanni, Pantalone, Desire, Alemanno, Giovanni, Scheiterle, Maximilian, Ceresoli, Marco, Cereda, Marco, Fumagalli, Chiara, Zanzi, Federico, Bolzon, Stefano, Guerra, Enrico, Lecchi, Francesca, Cellerino, Paola, Ardito, Antonella, Scaramuzzo, Rosa, Balla, Andrea, Lepiane, Pasquale, Tartaglia, Nicola, Ambrosi, Antonio, Pavone, Giovanna, Palini, Gian Marco, Veneroni, Simone, Garulli, Gianluca, Ricci, Claudio, Torre, Beatrice, Russo, Iris Shari, Rottoli, Matteo, Tanzanu, Marta, Belvedere, Angela, Milone, Marco, Manigrasso, Michele, De Palma, Giovanni Domenico, Piccoli, Micaela, Pattacini, Gianmaria Casoni, Magnone, Stefano, Bertoli, Paolo, Pisano, Michele, Massucco, Paolo, Palisi, Marco, Luzzi, Andrea-Pierre, Fleres, Francesco, Clarizia, Guglielmo, Spolini, Alessandro, Kobe, Yoshiro, Toma, Takayuki, Shimamura, Fumihiko, Parker, Robert, Ranketi, Sinkeet, Mitei, Mercy, Svagzdys, Saulius, Pauzas, Henrikas, Zilinskas, Justas, Poskus, Tomas, Kryzauskas, Marius, Jakubauskas, Matas, Zakaria, Andee Dzulkarnaen, Zakaria, Zaidi, Wong, Michael Pak-Kai, Jusoh, Asri Che, Zakaria, Muhammad Nazreen, Cruz, Daniel Rios, Elizalde, Aurea Barbara Rodriguez, Reynaud, Alejandro Bañon, Hernandez, Edgard Efren Lozada, Monroy, Jose maria Victor Palomo, Hinojosa-Ugarte, Diego, Quiodettis, Martha, Du Bois, María Esther, Latorraca, José, Major, Piotr, Pędziwiatr, Michał, Pisarska-Adamczyk, Magdalena, Walędziak, Maciej, Kwiatkowski, Andrzej, Czyżykowski, Łukasz, da Costa, Silvia Dantas, Pereira, Bela, Ferreira, Ana Rita Oliveira, Almeida, Filipe, Rocha, Ricardo, Carneiro, Carla, Perez, Diego Pita, Carvas, João, Rocha, Catarina, Ferreira, Cátia, Marques, Rita, Fernandes, Urânia, Leao, Pedro, Goulart, André, Pereira, Rita Gonçalves, Patrocínio, Sara Daniela Direito, de Mendonça, Nuno Gonçalo Gonçalves, Manso, Maria Isabel Cerqueira, Morais, Henrique Manuel Cardoso, Cardoso, Paulo Sebastião, Calu, Valentin, Miron, Adrian, Toma, Elena Adelina, Gachabayov, Mahir, Abdullaev, Abakar, Litvin, Andrey, Nechay, Taras, Tyagunov, Alexander, Yuldashev, Anvar, Bradley, Alison, Wilson, Michael, Panyko, Arpád, Látečková, Zuzana, Lacko, Vladimír, Lesko, Dusan, Soltes, Marek, Radonak, Jozef, Turrado-Rodriguez, Victor, Termes-Serra, Roser, Morales-Sevillano, Xavier, Lapolla, Pierfrancesco, Mingoli, Andrea, Brachini, Gioia, Degiuli, Maurizio, Sofia, Silvia, Reddavid, Rossella, de Manzoni Garberini, Andrea, Buffone, Angelica, del Pozo, Eduardo Perea, Aparicio-Sánchez, Daniel, Dos Barbeito, Sandra, Estaire-Gómez, Mercedes, Vitón-Herrero, Rebeca, de los Ángeles Gil Olarte-Marquez, Mª, Gil-Martínez, José, Alconchel, Felipe, Nicolás-López, Tatiana, Rahy-Martin, Aida Cristina, Pelloni, María, Bañolas-Suarez, Raquel, Mendoza-Moreno, Fernando, Nisa, Francisca García-Moreno, Díez-Alonso, Manuel, Rodas, María Elisa Valle, Agundez, María Carmona, Andrés, María Inmaculada Pérez, Moreira, Claudia Cristina Lopes, Perez, Aintzane Lizarazu, Ponce, Iñigo Augusto, González-Castillo, Ana María, Membrilla-Fernández, Estela, Salvans, Silvia, Serradilla-Martín, Mario, Pardo, Pablo Sancho, Rivera-Alonso, Daniel, Dziakova, Jana, Huguet, Jose Mugüerza, Valle, Naila Pagès, Ruiz, Enrique Colás, Valcárcel, Cristina Rey, Moreno, Cristina Ruiz, Salazar, Yeniffer Tatiana Moreno, García, Juan Jesús Rubio, Micó, Silvia Sevila, López, Joaquín Ruiz, Farré, Silvia Pérez, Gomez, Maite Santamaria, Petit, Nuria Mestres, Titos-García, Alberto, Aranda-Narváez, Jose Manuel, Romacho-López, Laura, Sánchez-Guillén, Luis, Aranaz-Ostariz, Veronica, Bosch-Ramírez, Marina, Martínez-Pérez, Aleix, Martínez-López, Elías, Sebastián-Tomás, Juan Carlos, Jimenez-Riera, Granada, Jimenez-Vega, Javier, Cuellar, Jose Aurelio Navas, Campos-Serra, Andrea, Muñoz-Campaña, Anna, Gràcia-Roman, Raquel, Alegre, Javier Martínez, Pinto, Francisca Lima, O’Sullivan, Sara Nuñez, Antona, Francisco Blanco, Jiménez, Beatriz Muñoz, López-Sánchez, Jaime, Carmona, Zahira Gómez, Fernández, Rocio Torres, Sierra, Isabel Blesa, de León, Laura Román García, Moreno, Verónica Polaino, Iglesias, Eva, Cumplido, Paola Lora, Bravo, Altea Arango, Simó, Ignacio Rey, Domínguez, Carlota López, Caamaño, Aloia Guerreiro, Lozano, Rafael Calleja, Martínez, Manuel Durán, Torres, Álvaro Naranjo, de Quiros, Javier Tomas Morales Bernaldo, Pellino, Gianluca, Cloquell, Miriam Moratal, Moller, Elsa García, Jalal-Eldin, Sami, Abdoun, Ahmed K., Hamid, Hytham K. S., Lohsiriwat, Varut, Mongkhonsupphawan, Aitsariya, Baraket, Oussama, Ayed, Karim, Abbassi, Imed, Ali, Ali Ben, Ammar, Houssem, Kchaou, Ali, Tlili, Ahmed, Zribi, Imen, Colak, Elif, Polat, Suleyman, Koylu, Zehra Alan, Guner, Ali, Usta, Mehmet Arif, Reis, Murat Emre, Mantoglu, Baris, Gonullu, Emre, Akin, Emrah, Altintoprak, Fatih, Bayhan, Zulfu, Firat, Necattin, Isik, Arda, Memis, Ufuk, Bayrak, Mehmet, Altıntaş, Yasemin, Kara, Yasin, Bozkurt, Mehmet Abdussamet, Kocataş, Ali, Das, Koray, Seker, Ahmet, Ozer, Nazmi, Atici, Semra Demirli, Tuncer, Korhan, Kaya, Tayfun, Ozkan, Zeynep, Ilhan, Onur, Agackiran, Ibrahim, Uzunoglu, Mustafa Yener, Demirbas, Eren, Altinel, Yuksel, Meric, Serhat, Hacım, Nadir Adnan, Uymaz, Derya Salim, Omarov, Nail, Balık, Emre, Tebala, Giovanni D., Khalil, Hany, Rana, Mridul, Khan, Mansoor, Florence, Charlotte, Swaminathan, Christie, Leo, Cosimo Alex, Liasis, Lampros, Watfah, Josef, Trostchansky, Ivan, Delgado, Edward, Pontillo, Marcelo, Latifi, Rifat, Coimbra, Raul, Edwards, Sara, Lopez, Ana, Velmahos, George, Dorken, Ander, Gebran, Anthony, Palmer, Amanda, Oury, Jeffrey, Bardes, James M., Seng, Sirivan Suon, Coffua, Lauren S., Ratnasekera, Asanthi, Egodage, Tanya, Echeverria-Rosario, Karla, Armento, Isabella, Napolitano, Lena M., Sangji, Naveen F., Hemmila, Mark, Quick, Jacob A., Austin, Tyler R., Hyman, Theodore S., Curtiss, William, McClure, Amanda, Cairl, Nicholas, Biffl, Walter L., Truong, Hung P., Schaffer, Kathryn, Reames, Summer, Banchini, Filippo, Capelli, Patrizio, Coccolini, Federico, Sartelli, Massimo, Bravi, Francesca, Vallicelli, Carlo, Agnoletti, Vanni, Baiocchi, Gian Luca, and Catena, Fausto

Published
2024
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22. SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation

Author

Nashabat, Marwan, Nabavizadeh, Nasrinsadat, Saraçoğlu, Hilal Pırıl, Sarıbaş, Burak, Avcı, Şahin, Börklü, Esra, Beillard, Emmanuel, Yılmaz, Elanur, Uygur, Seyide Ecesu, Kayhan, Cavit Kerem, Bosco, Luca, Eren, Zeynep Bengi, Steindl, Katharina, Richter, Manuela Friederike, Bademci, Guney, Rauch, Anita, Fattahi, Zohreh, Valentino, Maria Lucia, Connolly, Anne M., Bahr, Angela, Viola, Laura, Bergmann, Anke Katharina, Rocha, Maria Eugenia, Peart, LeShon, Castro-Rojas, Derly Liseth, Bültmann, Eva, Khan, Suliman, Giarrana, Miriam Liliana, Teleanu, Raluca Ioana, Gonzalez, Joanna Michelle, Pini, Antonella, Schädlich, Ines Sophie, Vill, Katharina, Brugger, Melanie, Zuchner, Stephan, Pinto, Andreia, Donkervoort, Sandra, Bivona, Stephanie Ann, Riza, Anca, Streata, Ioana, Gläser, Dieter, Baquero-Montoya, Carolina, Garcia-Restrepo, Natalia, Kotzaeridou, Urania, Brunet, Theresa, Epure, Diana Anamaria, Bertoli-Avella, Aida, Kariminejad, Ariana, Tekin, Mustafa, von Hardenberg, Sandra, Bönnemann, Carsten G., Stettner, Georg M., Zanni, Ginevra, Kayserili, Hülya, Oflazer, Zehra Piraye, and Escande-Beillard, Nathalie

Published
2024
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25. How does damage control strategy influence organ’s suitability for donation after major trauma? A multi-institutional study

Author

Altomare, Michele, Bekhor, Shir Sara, Sacchi, Marco, Ambrogi, Federico, Infante, Gabriele, Chieregato, Arturo, Pozzi, Federico, Feo, Tullia Maria De, Nava, Lorenza, Masturzo, Elisabetta, Prete, Luca Del, Perali, Carolina, Manzo, Elena, Bertoli, Paolo, Virdis, Francesco, Spota, Andrea, Cioffi, Stefano Piero Bernardo, Benuzzi, Laura, Santolamazza, Giuliano, Podda, Mauro, Mingoli, Andrea, Chiara, Osvaldo, and Cimbanassi, Stefania

Published
2024
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26. Hypomethylating agent monotherapy in core binding factor acute myeloid leukemia: a French multicentric retrospective study

Author

Gabellier, Ludovic, Peterlin, Pierre, Thepot, Sylvain, Hicheri, Yosr, Paul, Franciane, Gallego-Hernanz, Maria Pilar, Bertoli, Sarah, Turlure, Pascal, Pigneux, Arnaud, Guieze, Romain, Ochmann, Marlène, Malfuson, Jean-Valère, Cluzeau, Thomas, Thomas, Xavier, Tavernier, Emmanuelle, Jourdan, Eric, Bonnet, Sarah, Tudesq, Jean-Jacques, and Raffoux, Emmanuel

Published
2024
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28. Design and implementation of intelligent packet filtering in IoT microcontroller-based devices

Author

Bertoli, Gustavo de Carvalho, Fernandes, Gabriel Victor C., Monici, Pedro H. Borges, Guibo, César H. de Araujo, Pereira Jr., Lourenço Alves, and Santos, Aldri

Subjects
Computer Science - Cryptography and Security, Computer Science - Machine Learning, Computer Science - Networking and Internet Architecture
Abstract

Internet of Things (IoT) devices are increasingly pervasive and essential components in enabling new applications and services. However, their widespread use also exposes them to exploitable vulnerabilities and flaws that can lead to significant losses. In this context, ensuring robust cybersecurity measures is essential to protect IoT devices from malicious attacks. However, the current solutions that provide flexible policy specifications and higher security levels for IoT devices are scarce. To address this gap, we introduce T800, a low-resource packet filter that utilizes machine learning (ML) algorithms to classify packets in IoT devices. We present a detailed performance benchmarking framework and demonstrate T800's effectiveness on the ESP32 system-on-chip microcontroller and ESP-IDF framework. Our evaluation shows that T800 is an efficient solution that increases device computational capacity by excluding unsolicited malicious traffic from the processing pipeline. Additionally, T800 is adaptable to different systems and provides a well-documented performance evaluation strategy for security ML-based mechanisms on ESP32-based IoT systems. Our research contributes to improving the cybersecurity of resource-constrained IoT devices and provides a scalable, efficient solution that can be used to enhance the security of IoT systems., Comment: 11 pages, under review

Published
2023
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29. How effective is multifactor authentication at deterring cyberattacks?

Author

Meyer, Lucas Augusto, Romero, Sergio, Bertoli, Gabriele, Burt, Tom, Weinert, Alex, and Ferres, Juan Lavista

Subjects
Computer Science - Cryptography and Security
Abstract

This study investigates the effectiveness of multifactor authentication (MFA) in protecting commercial accounts from unauthorized access, with an additional focus on accounts with known credential leaks. We employ the benchmark-multiplier method, coupled with manual account review, to evaluate the security performance of various MFA methods in a large dataset of Microsoft Azure Active Directory users exhibiting suspicious activity. Our findings reveal that MFA implementation offers outstanding protection, with over 99.99% of MFA-enabled accounts remaining secure during the investigation period. Moreover, MFA reduces the risk of compromise by 99.22% across the entire population and by 98.56% in cases of leaked credentials. We further demonstrate that dedicated MFA applications, such as Microsoft Authenticator, outperform SMS-based authentication, though both methods provide significantly enhanced security compared to not using MFA. Based on these results, we strongly advocate for the default implementation of MFA in commercial accounts to increase security and mitigate unauthorized access risks.

Published
2023

30. Equivalence of inequality indices: Three dimensions of impact revisited

Author

Bertoli-Barsotti, Lucio, Gagolewski, Marek, Siudem, Grzegorz, and Żogała-Siudem, Barbara

Subjects
Physics - Physics and Society, Computer Science - Digital Libraries, Economics - Econometrics, Statistics - Applications
Abstract

Inequality is an inherent part of our lives: we see it in the distribution of incomes, talents, resources, and citations, amongst many others. Its intensity varies across different environments: from relatively evenly distributed ones, to where a small group of stakeholders controls the majority of the available resources. We would like to understand why inequality naturally arises as a consequence of the natural evolution of any system. Studying simple mathematical models governed by intuitive assumptions can bring many insights into this problem. In particular, we recently observed (Siudem et al., PNAS 117:13896-13900, 2020) that impact distribution might be modelled accurately by a time-dependent agent-based model involving a mixture of the rich-get-richer and sheer chance components. Here we point out its relationship to an iterative process that generates rank distributions of any length and a predefined level of inequality, as measured by the Gini index. Many indices quantifying the degree of inequality have been proposed. Which of them is the most informative? We show that, under our model, indices such as the Bonferroni, De Vergottini, and Hoover ones are equivalent. Given one of them, we can recreate the value of any other measure using the derived functional relationships. Also, thanks to the obtained formulae, we can understand how they depend on the sample size. An empirical analysis of a large sample of citation records in economics (RePEc) as well as countrywise family income data, confirms our theoretical observations. Therefore, we can safely and effectively remain faithful to the simplest measure: the Gini index.

Published
2023

31. Gini-stable Lorenz curves and their relation to the generalised Pareto distribution

Author

Bertoli-Barsotti, Lucio, Gagolewski, Marek, Siudem, Grzegorz, and Żogała-Siudem, Barbara

Subjects
Physics - Physics and Society, Economics - Econometrics, Statistics - Applications
Abstract

We introduce an iterative discrete information production process where we can extend ordered normalised vectors by new elements based on a simple affine transformation, while preserving the predefined level of inequality, G, as measured by the Gini index. Then, we derive the family of empirical Lorenz curves of the corresponding vectors and prove that it is stochastically ordered with respect to both the sample size and G which plays the role of the uncertainty parameter. We prove that asymptotically, we obtain all, and only, Lorenz curves generated by a new, intuitive parametrisation of the finite-mean Pickands' Generalised Pareto Distribution (GPD) that unifies three other families, namely: the Pareto Type II, exponential, and scaled beta distributions. The family is not only totally ordered with respect to the parameter G, but also, thanks to our derivations, has a nice underlying interpretation. Our result may thus shed a new light on the genesis of this family of distributions. Our model fits bibliometric, informetric, socioeconomic, and environmental data reasonably well. It is quite user-friendly for it only depends on the sample size and its Gini index.

Published
2023
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32. Implementation of a national rapid prenatal exome sequencing service in England: evaluation of service outcomes and factors associated with regional variation

Author

Rema Ramakrishnan, Corinne Mallinson, Steven Hardy, Jennifer Broughan, Maisie Blyth, Gabriella Melis, Catherine Franklin, Melissa Hill, Rhiannon Mellis, Wing Han Wu, Stephanie Allen, Lyn S. Chitty, Marian Knight, EXPRESS Clinical Outcomes Group, Ruth Armstrong, Tazeen Ashraf, Ana Beleza-Meireles, Marta Bertoli, Lucy Bownass, Jennifer Campbell, Natalie Canham, Ruth Cleaver, Jan Cobben, Jacqueline Eason, Nour Elkhateeb, Alice Gardham, Alice Garrett, Sara Hillman, Emma Hobson, Simon Holden, Muriel Holder-Espinasse, Tessa Homfray, Monika Kosicka-Slawinska, Alison Male, Sahar Mansour, Sarju G. Mehta, Cathryn Moss, Jessica Myring, Pranav Pandya, Katrina Prescott, Lorna Randall, Sarah Richardson, Alexander Ross, Alison Stewart, Dagmar Tapon, Hannah Titheradge, Pradeep Vasudevan, Astrid Weber, and Louise Wilson

Subjects
prenatal, exome sequencing, structural defects, genetic diagnosis, implementation, Genetics, QH426-470
Abstract

IntroductionPrenatal exome sequencing (pES) can enhance genetic diagnosis of fetuses with structural anomalies and has recently been introduced as a national service in England. We aimed to examine service outcomes such as diagnostic yield (definite final diagnosis), referral rate, and sources of referral, and explore variation in outcomes of pES by individual or service level factors between 01 October 2021 and 30 June 2022.MethodspES testing results from the National Health Service laboratories performing testing were linked to National Congenital Anomaly and Rare Disease Registration Service data and the Maternity Services Data Set and descriptive statistics computed.ResultsThere were 475,089 women who gave birth in England during the study period. The referral rate for pES was 8.6 (95% CI 7.8, 9.4) per 10,000 maternities. About 59% of those referred proceeded with pES testing and 35% of women who proceeded received a definite final diagnosis with a median turnaround time of 15 days. Of those who had pES testing, 64.6% had a live birth, 25.3% underwent termination of pregnancy (median gestational age at termination: 26 weeks), and 9.3% had a stillbirth. Among the 85 women who had a definite final diagnosis, 40% had a termination of pregnancy, 18% had a stillbirth, and 42% had a live birth. The corresponding figures among women without a definite final diagnosis were 18%, 5%, and 78%, respectively. Among women who had a termination of pregnancy, the median gestational age at final report was 24.9 weeks and 26.2 weeks at termination. Variation observed in some of the characteristics and outcomes between regional services were limited by small sample size.ConclusionThis study showed that of those referred, pES testing provided a diagnosis for one in three pregnancies with a fetal anomaly across England during the study period when other tests had been non-informative. Women who opted for a termination of pregnancy underwent the procedure at relatively late gestations. Earlier referral for pES, streamlining pathways, and faster turnaround times may help results to be available at an earlier gestation to allow families more time to make decisions around continuing or terminating their pregnancy. The variation in service outcomes between regional services needs to be investigated further to understand the reasons for these differences.

Published
2024
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33. OLDER ADULTS WITH PH NEGATIVE ACUTE LYMPHOBLASTIC LEUKEMIA: A MONOCENTRIC EXPERIENCE ON CONSECUTIVE PATIENTS AGED MORE THAN 55 YEARS

Author

Erika Borlenghi, Tatiana Zollner, Giuseppe Rossi, Chiara Pagani, Michele Malagola, Alessandra Sottini, Diego Bertoli, Mariella Tonelli, Marco Chiarini, Chiara Cattaneo, Rossella Leopaldo, Angela Passi, Lorenzo Masina, Francesca Federico, Carlotta Giupponi, and Alessandra Tucci

Subjects
acute lymphoblastic leukemia, Ph negative, elderly patients, intensive treatment, Diseases of the blood and blood-forming organs, RC633-647.5
Abstract

Background: Treating with curative intent elderly patients affected by acute lymphoblastic leukemia (ALL) is an unmet clinical need. Comorbidities, lower tolerance to organ toxicities, and poor disease-related prognostic features make it difficult to cure these patients. Objectives: To analyze the outcome of ALL elderly patients aged over 55 years treated intensively or with the best supportive care (BSC) over the last 20 years.

Published
2024
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35. Long Covid: a global health issue – a prospective, cohort study set in four continents

Author

Synne Jenum, Renaud Tamisier, Clark D Russell, Piero Valentini, Sylvain Diamantis, Dominique Deplanque, Agnes Meybeck, Maxime Hentzien, Clotilde Allavena, André Cabié, Firouzé Bani-Sadr, Patrick Rossignol, Lionel Piroth, Mathieu Blot, Marie-Pierre Debray, François Angoulvant, Marc Leone, Ewen M Harrison, Maria Zambon, Michael Edelstein, Florentia Kaguelidou, Marc Lambert, Olivier Lairez, Tom Solomon, Carrol Gamble, Laura Marsh, Christiana Kartsonaki, Natalie Wright, Srinivas Murthy, Gail Carson, Jake Dunning, Laura Merson, Peter Horby, Timothy M Uyeki, Guillermo Maestro de la Calle, Stephen R Knight, Marlene Murris, Aurore Bousquet, Kenneth A McLean, Hugues Cordel, Marc Fabre, Laurence Bouillet, Xavier Duval, Christian Rabaud, Paul Klenerman, Jean-Christophe Lucet, Jean-François Timsit, Jennifer Lee, Nicolas Terzi, Saad Nseir, Gwenhaël Colin, Steve Webb, Kalynn Kennon, Diana Hernández, Yazdan Yazdanpanah, Jean-François Payen, Samreen Ijaz, Meera Chand, Catherine A Shaw, Cameron J Fairfield, Bruno Levy, Eric D'ortenzio, Pierre Delobel, Tiphaine Goulenok, Bronner P Gonçalves, Arnaud Scherpereel, Danilo Buonsenso, Mark G Pritchard, Susanne Dudman, Adrien Auvet, Debby Bogaert, Elisabeth Botelho-Nevers, Amandine Gagneux-Brunon, Merce Jourdain, Sue Smith, Jia Wei, Antoine Khalil, Clément Le Bihan, Nathalie Pansu, Vincent Le Moing, Victor Fomin, Christophe Fraser, Daniel Munblit, William Greenhalf, François-Xavier Lescure, Nicolas Carlier, Saye Khoo, Annemarie B Docherty, Christopher A Green, Riinu Pius, Louise Sigfrid, Sophie Halpin, Clare Jackson, Antonia Ho, Malcolm G Semple, Andrew Dagens, Carlo Palmieri, Zeno Bisoffi, Thomas Flament, Julie Mankikian, Romain Basmaci, Peter Openshaw, Tom Fletcher, Adrien Lemaignen, Pierre Tattevin, Christelle Delmas, Hélène Espérou, Claire Lévy-Marchal, Olivier Picone, Jeanne Sibiude, Cecile Yelnik, Michelle Girvan, Piero L Olliaro, Beatrice Alex, Benjamin Bach, Wendy S Barclay, Graham S Cooke, Ana da Silva Filipe, Alexander J Mentzer, Alison M Meynert, Mahdad Noursadeghi, Shona C Moore, Massimo Palmarini, William A Paxton, Georgios Pollakis, David L Robertson, Vanessa Sancho-Shimizu, Janet T Scott, Shiranee Sriskandan, David Stuart, Charlotte Summers, Emma C Thomson, Ryan S Thwaites, Lance C W Turtle, Hayley Hardwick, Wilna Oosthuyzen, Fiona Griffiths, Jo Dalton, Egle Saviciute, Stephanie Roberts, Janet Harrison, Marie Connor, Gary Leeming, Ross Hendry, Victoria Shaw, Jade Ghosn, Nicolas Benech, Odile Launay, Yoan Lavie-Badie, Minh Le, Nicola Latronico, Mylène Maillet, Didier Laureillard, Claire Hastie, Nicholas Sedillot, Anne-Sophie Boureau, Laurent Abel, Guillaume Martin-Blondel, Valérie Garrait, Isabelle Delacroix, Andrea Cortegiani, Jean-Benoît Arlet, Raphaël Borie, Kévin Bouiller, Vincent Langlois, Mélanie Roriz, Vincent Dubée, Jan Cato Holter, Anders Benjamin Kildal, Luis Felipe Reyes, Stéphanie Fry, Laurent Plantier, Denis Malvy, François Dubos, Jean-Sébastien Hulot, Paola Rodari, Cécile Tromeur, Paul Loubet, Marina Esposito-Farèse, France Mentré, Valérie Gaborieau, Cécile Goujard, Vincent Thibault, Adam Ali, Sadie Kelly, Fernando A Bozza, Bertrand Dussol, Marion Schneider, Marielle Buisson, Yves Levy, Carine Roy, Walter Picard, Olivier Sanchez, Antoine Kimmoun, Roberto Roncon-Albuquerque, Nathan Peiffer-Smadja, Julien Poissy, Lila Bouadma, Bruno Lina, Maude Bouscambert, Alexandre Gaymard, Gilles Peytavin, Jeremie Guedj, Claire Andrejak, Cedric Laouenan, Anissa Chair, Samira Laribi, Marie-Capucine Tellier, Sandrine Couffin-Cadiergues, Ventzislava Petrov-Sanchez, Alpha Diallo, Sarah Tubiana, Patrick Imbert, Emmanuelle Mercier, Waasila Jassat, Arsene Kpangon, Dominique Luton, Sophie Mahy, Pierre-Adrien Bolze, Sarah Moore, Raphael Favory, Andrea Angheben, Andrea Rossanese, Matthew Hall, Johann Auchabie, Christophe Rapp, Vincent Peigne, Fredrik Müller, Christl A Donnelly, François Goehringer, Elodie Curlier, Catherine Chirouze, Vegard Skogen, Stéphane Jaureguiberry, Laurent Bitker, Hodane Yonis, Laurent Mandelbrot, Jérémie Pasquier, Bato Hammarström, Thushan de Silva, Polina Bugaeva, Julie Chas, Dario Sinatti, Arne Søraas, Murray Wham, Sara Clohisey, Seán Keating, Thibault Chiarabini, Agnes Sommet, Hugues Aumaître, Charlotte Charpentier, Sylvie LeGac, Sarah E McDonald, Jeanne Truong, Anne-Hélène Boivin, Mariachiara Ippolito, Diane Descamps, Sérgio Gaião, Stéphane Lasry, Amanda Rojek, Charlotte Salmon Gandonniere, Sebastien Preau, Benoit Thill, Karine Faure, Denis Garot, Grégory Corvaisier, Elsa Nyamankolly, Merete Ellingjord-Dale, Eva Geraud, Barbara Wanjiru Citarella, Kévin Alexandre, Nathalie Allou, Séverine Ansart, Laurène Azemar, Cecile Azoulay, Delphine Bachelet, Claudine Badr, Valeria Balan, Marie Bartoli, Joaquín Baruch, Jules Bauer, Alexandra Bedossa, Husna Begum, Marine Beluze, Delphine Bergeaud, Giulia Bertoli, Simon Bessis, Sybille Bevilcaqua, Karine Bezulier, Krishna Bhavsar, Laetitia Bodenes, Isabela Bolaños, Olivier Bouchaud, Sabelline Bouchez, Camile Bouisse, Marielle Boyer-Besseyre, Axelle Braconnier, Ingrid G Bustos, Denis Butnaru, Eder Caceres, Cyril Cadoz, Valentine Campana, Pauline Caraux-Paz, Thierry Carmoi, Marie-Christine Carret, Maire-Laure Casanova, Guylaine Castor-Alexandre, François-Xavier Catherine, Minerva Cervantes-Gonzalez, Catherine Chakveatze, Jean-Marc Chapplain, Antoine Cheret, Bernard Cholley, Marie-Charlotte Chopin, Roxane Courtois, Stéphanie Cousse, Alexa Debard, Nathalie DeCastro, Romain Decours, Eve Defous, Karen Delavigne, Elisa Demonchy, Emmanuelle Denis, Mathilde Desvallées, Kévin Didier, Jean-Luc Diehl, Vincent Dinot, Fara Diop, Alphonsine Diouf, Félix Djossou, Céline Dorival, Nathalie Dournon, Murray Dryden, Alexandre Ducancelle, Paul Dunand, Brigitte Elharrar, Philippine Eloy, Isabelle Enderle, Ilka Engelmann, Vincent Enouf, Olivier Epaulard, Manuel Etienne, Isabelle Fabre, François-Xavier Ferrand, Eglantine Ferrand Devouge, Nicolas Ferriere, Céline Ficko, Erwan Fourn, Rostane Gaci, Jean-Charles Gagnard, Esteban Garcia-Gallo, Tristan Gigante, Guillermo Giordano, Valérie Gissot, Petr Glybochko, Marie Gominet, Isabelle Gorenne, Laure Goubert, Pascal Granier, Segolène Greffe, Martin Guego, Romain Guery, Anne Guillaumot, Laurent Guilleminault, Thomas Guimard, Ali Hachemi, Nadir Hadri, Rebecca Hamidfar, Lars Heggelund, Rupert Higgins, Hikombo Hitoto, Alexandre Hoctin, Isabelle Hoffmann, Ikram Houas, Margaux Isnard, Danielle Jaafar, Salma Jaafoura, Julien Jabot, Florence Jego, Cédric Joseph, Ouifiya Kafif, Sabina Kali, Younes Kerroumi, Marie Lachatre, Marie Lacoste, Marie Lagrange, Fabrice Laine, Antonio Lalueza, Marie Langelot-Richard, Delphine Lariviere, Andy Law, Laurent Lefebvre, Bénédicte Lefebvre, Benjamin Lefèvre, Jean-Daniel Lelievre, Véronique Lemee, Anthony Lemeur, Quentin Lepiller, Olivier Lesens, Mathieu Lesouhaitier, Geoffrey Liegeon, Guillaume Lingas, Sylvie Lion-Daolio, Marine Livrozet, Bouchra Loufti, Guillame Louis, Liem Luong, Moïse Machado, Gabriel Macheda, Rafael Mahieu, Thomas Maitre, Victoria Manda, Aldric Manuel, Samuel Markowicz, Martin Martinot, Mathieu Mattei, Laurence Maulin, Thierry Mazzoni, Cécile Mear-Passard, Antoine Merckx, Mayka Mergeay-Fabre, Vanina Meysonnier, Mehdi Mezidi, Isabelle Michelet, Lucia Moro, Julien Moyet, Jimmy Mullaert, Nadège Neant, Nikita Nekliudov, Anthony Nghi, Duc Nguyen, Nadia Ouamara, Rachida Ouissa, Eric Oziol, Justine Pages Maïder Pagadoy, Aurélie Papadopoulos, Bruno Pastene, Christelle Paul, Florent Peelman, Daniel Perez, Thomas Perpoint, Vincent Pestre, Ryadh Pokeerbux, Diane Ponscarme, Marie Rafiq, Blandine Rammaert, Stanislas Rebaudet, Sarah Redl, Anne-Sophie Resseguier, Matthieu Revest, Laurent Richier, Patrick Rispal, Karine Risso, Olivier Robineau, Manuel Rosa-Calatrava, Benoît Roze, Hélène Salvator, Pierre-François Sandrine, Benjamine Sarton, Eric Senneville, Albert Sotto, Sarah Stabler, Andrey Svistunov, Coralie Tardivon, François Téoulé, Olivier Terrier, Simon-Djamel Thiberville, Peter S Timashev, Noémie Tissot, Tiffany Trouillon, Christelle Tual, Noémie Vanel, Charline Vauchy, Aurélie Veislinger, Fanny Vuotto, Aurélie Wiedemann, Marion Zabbe, David Zucman, Ekaterina Pazukhina, Allegra Chatterjee, Kyle Gomez, Matteo Puntoni, Oksana Kruglova, Yock Ping Chow, Yash Doshi, Sara Isabel Duque Vallejo, Elsa D Ibáñez-Prada, Yuli V Fuentes, Margaret E O'Hara, Tigist Menkir, Amal Abrous, Younes Ait Tamlihat, Aliya Mohammed Alameen, Marta Alessi, Kazali Enagnon Alidjnou, Jean Baptiste Assie, Eyvind W Axelsen, John Kenneth Baillie, José Luis Bernal Sobrino, Sonja Hjellegjerde Brunvoll, Roar Bævre-Jensen, Jose Andres Calvache, Léo Chenard, Juan Luis Cruz Bermúdez, Jaime Cruz Rojo, Charlene Da Silveira, John Arne Dahl, Etienne De Montmollin, Cristina De Rose, Fernanda Dias Da Silva, Thomas Drake, Amiel A Dror, Anne Margarita Dyrhol-Riise, Linn Margrete Eggesbø, Mohammed El Sanharawi, William Finlayson, Aline-Marie Florence, Linda Gail Skeie, Noelia García Barrio, Anatoliy Gavrylov, Louis Gerbaud Morlaes, Yanay Gorelik, Mette Stausland Istre, Silje Bakken Jørgensen, Karl Trygve Kalleberg, Beathe Kiland Granerud, Eyrun Floerecke Kjetland Kjetland, Gry Kloumann Bekken, Galyna Kutsyna, Nadhem Lafhej, Cyril Le Bris, Georges Le Falher, Lucie Le Fevre, Quentin Le Hingrat, Marion Le Maréchal, Soizic Le Mestre, Gwenaël Le Moal, Hervé Le Nagard, Sophie Letrou, Wei Shen Lim, Andreas Lind, Carlos Lumbreras Bermejo, Miles Lunn, Olga Martynenko, Roberta Meta, Lina Morales Cely, Clara Mouton Perrot, Alamin Mustafa, Karl Erik Müller, Ebrahim Ndure, Anders Benteson Nygaard, Claudia Milena Orozco-Chamorro, Paul Otiku, Miguel Pedrera Jiménez, Frank Olav Pettersen, Chiara Piubelli, Víctor Quirós González, Else Quist-Paulsen, Dag Henrik Reikvam, Antonia Ricchiuto, Aleksander Rygh Holten, Nadia Saidani, Pablo Serrano Balazote, Nassima Si Mohammed, Lene Bergendal Solberg, Edouard Soum, Elisabetta Spinuzza, Trude Steinsvik, Birgitte Stiksrud, Mathew Thorpe, Vadim Tieroshyn, Kristian Tonby, Anders Tveita, Sylvie Van Der Werf, and Paul Henri Wicky

Subjects
Medicine (General), R5-920, Infectious and parasitic diseases, RC109-216
Abstract

Introduction A proportion of people develop Long Covid after acute COVID-19, but with most studies concentrated in high-income countries (HICs), the global burden is largely unknown. Our study aims to characterise long-term COVID-19 sequelae in populations globally and compare the prevalence of reported symptoms in HICs and low-income and middle-income countries (LMICs).Methods A prospective, observational study in 17 countries in Africa, Asia, Europe and South America, including adults with confirmed COVID-19 assessed at 2 to

Published
2024
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37. Generalizing intrusion detection for heterogeneous networks: A stacked-unsupervised federated learning approach

Author

Bertoli, Gustavo de Carvalho, Junior, Lourenço Alves Pereira, Santos, Aldri Luiz dos, and Saotome, Osamu

Subjects
Computer Science - Cryptography and Security
Abstract

The constantly evolving digital transformation imposes new requirements on our society. Aspects relating to reliance on the networking domain and the difficulty of achieving security by design pose a challenge today. As a result, data-centric and machine-learning approaches arose as feasible solutions for securing large networks. Although, in the network security domain, ML-based solutions face a challenge regarding the capability to generalize between different contexts. In other words, solutions based on specific network data usually do not perform satisfactorily on other networks. This paper describes the stacked-unsupervised federated learning (FL) approach to generalize on a cross-silo configuration for a flow-based network intrusion detection system (NIDS). The proposed approach we have examined comprises a deep autoencoder in conjunction with an energy flow classifier in an ensemble learning task. Our approach performs better than traditional local learning and naive cross-evaluation (training in one context and testing on another network data). Remarkably, the proposed approach demonstrates a sound performance in the case of non-iid data silos. In conjunction with an informative feature in an ensemble architecture for unsupervised learning, we advise that the proposed FL-based NIDS results in a feasible approach for generalization between heterogeneous networks. To the best of our knowledge, our proposal is the first successful approach to applying unsupervised FL on the problem of network intrusion detection generalization using flow-based data., Comment: Preprint (Under revision), 35 pages. Added repository link, see https://github.com/c2dc/fl-unsup-nids

Published
2022
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40. Imatinib with intensive chemotherapy in AML with t(9;22)(q34.1;q11.2)/BCR::ABL1. A DATAML registry study

Author

Camille Gondran, Pierre-Yves Dumas, Emilie Bérard, Audrey Bidet, Eric Delabesse, Suzanne Tavitian, Thibaut Leguay, Françoise Huguet, Cécile Borel, Edouard Forcade, François Vergez, Jean-Philippe Vial, Jean Baptiste Rieu, Nicolas Lechevalier, Isabelle Luquet, Alban Canali, Emilie Klein, Audrey Sarry, Anne-Charlotte de Grande, Arnaud Pigneux, Christian Récher, Laetitia Largeaud, and Sarah Bertoli

Subjects
Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract

Abstract Acute myeloid leukemia (AML) with t(9;22) (q34.1; q11.2)/BCR::ABL1, a distinct entity within the group of AML with defining genetic abnormalities, belong to the adverse-risk group of the 2022 ELN classification. However, there is little data on outcome since the era of tyrosine kinase inhibitors. Among 5819 AML cases included in the DATAML registry, 20 patients with de novo BCR::ABL1 +AML (0.3%) were identified. Eighteen patients treated with standard induction chemotherapy were analyzed in this study. Imatinib was added to chemotherapy in 16 patients. The female-to-male ratio was 1.25 and median age was 54 years. The t(9;22) translocation was the sole chromosomal abnormality in 12 patients. Main gene mutations detected by NGS were ASXL1, RUNX1 and NPM1. Compared with patients with myeloid blast phase of chronic myeloid leukemia (CML-BP), de novo BCR::ABL1 +AML had higher WBC, fewer additional chromosomal abnormalities, lower CD36 or CD7 expression and no ABL1 mutations. Seventeen patients (94.4%) achieved complete remission (CR) or CR with incomplete hematologic recovery. Twelve patients were allografted in first remission. With a median follow-up of 6.3 years, the median OS was not reached and 2-year OS was 77% (95% CI: 50–91). Four out of five patients who were not transplanted did not relapse. Comparison of BCR::ABL1 +AML, CML-BP, 2017 ELN intermediate (n = 643) and adverse-risk patients (n = 863) showed that patients with BCR::ABL1 +AML had a significant better outcome than intermediate and adverse-risk patients. BCR::ABL1 +AML patients treated with imatinib and intensive chemotherapy should not be included in the adverse-risk group of current AML classifications.

Published
2024
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41. Goodbye Hartmann trial: a prospective, international, multicenter, observational study on the current use of a surgical procedure developed a century ago

Author

Gennaro Perrone, Mario Giuffrida, Fikri Abu-Zidan, Vitor F. Kruger, Marco Livrini, Gabriele Luciano Petracca, Giorgio Rossi, Antonio Tarasconi, Brian W. C. A. Tian, Elena Bonati, Ricardo Mentz, Federico N. Mazzini, Juan P. Campana, Elisabeth Gasser, Reinhold Kafka-Ritsch, Daniel M. Felsenreich, Christopher Dawoud, Stefan Riss, Carlos Augusto Gomes, Felipe Couto Gomes, Ricardo Alessandro Teixeira Gonzaga, Cassio Alfred Brattig Canton, Bruno Monteiro Pereira, Gustavo P. Fraga, Leticia Gonçalves Zem, Vinicius Cordeiro-Fonseca, Renato de Mesquita Tauil, Boyko Atanasov, Nikolay Belev, Nikola Kovachev, L. Juan José Meléndez, Ana Dimova, Stefan Dimov, Zdravko Zelić, Goran Augustin, Branko Bogdanić, Trpimir Morić, Elie Chouillard, Melinda Bajul, Belinda De Simone, Yves Panis, Francesco Esposito, Margherita Notarnicola, Lelde Lauka, Anna Fabbri, Hassen Hentati, Iskander Fnaiech, Venara Aurélien, Marie Bougard, Maxime Roulet, Zaza Demetrashvili, Irakli Pipia, Giorgi Merabishvili, Konstantinos Bouliaris, Georgios Koukoulis, Christos Doudakmanis, Sofia Xenaki, Emmanuel Chrysos, Stamatios Kokkinakis, Panteleimon Vassiliu, Nikolaos Michalopoulos, Ioannis Margaris, Aristotelis Kechagias, Konstantinos Avgerinos, Jevgeni Katunin, Eftychios Lostoridis, Eleni-Aikaterini Nagorni, Antonio Pujante, Francesk Mulita, Ioannis Maroulis, Michail Vailas, Athanasios Marinis, Ioannis Siannis, Eirini Bourbouteli, Dimitrios K. Manatakis, Nikolaos Tasis, Vasileios Acheimastos, Sotiropoulou Maria, Kapiris Stylianos, Harilaos Kuzeridis, Dimitrios Korkolis, Evangelos Fradelos, George Kavalieratos, Thalia Petropoulou, Andreas Polydorou, Ioannis Papacostantinou, Tania Triantafyllou, Despina Kimpizi, Dimitrios Theodorou, Konstantinos Toutouzas, Alexandros Chamzin, Maximos Frountzas, Dimitrios Schizas, Ioannis Karavokyros, Athanasios Syllaios, Alexandros Charalabopoulos, Maria Boura, Efstratia Baili, Orestis Ioannidis, Lydia Loutzidou, Elissavet Anestiadou, Ioannis Tsouknidas, Georgios Petrakis, Eleni Polenta, Lovenish Bains, Rahul Gupta, Sudhir K. Singh, Archana Khanduri, Miklosh Bala, Asaf Kedar, Marcello Pisano, Mauro Podda, Adolfo Pisanu, Gennaro Martines, Giuseppe Trigiante, Giuliano Lantone, Antonino Agrusa, Giuseppe Di Buono, Salvatore Buscemi, Massimiliano Veroux, Rossella Gioco, Gastone Veroux, Luigi Oragano, Sandro Zonta, Federico Lovisetto, Carlo V. Feo, Antonio Pesce, Nicolò Fabbri, Giulio Lantone, Fabio Marino, Fabrizio Perrone, Leonardo Vincenti, Vincenzo Papagni, Arcangelo Picciariello, Stefano Rossi, Biagio Picardi, Simone Rossi Del Monte, Diego Visconti, Giulia Osella, Luca Petruzzelli, Giusto Pignata, Jacopo Andreuccetti, Rossella D’Alessio, Massimo Buonfantino, Eleonora Guaitoli, Stefano Spinelli, Gianluca Matteo Sampietro, Carlo Corbellini, Leonardo Lorusso, Alice Frontali, Isabella Pezzoli, Alessandro Bonomi, Andrea Chierici, Christian Cotsoglou, Giuseppe Manca, Antonella Delvecchio, Nicola Musa, Massimiliano Casati, Laface Letizia, Emmanuele Abate, Giorgio Ercolani, Fabrizio D’Acapito, Leonardo Solaini, Gianluca Guercioni, Simone Cicconi, Diego Sasia, Felice Borghi, Giorgio Giraudo, Giuseppe Sena, Pasquale Castaldo, Eugenia Cardamone, Giuseppe Portale, Matteo Zuin, Ylenia Spolverato, Marialusia Esposito, Roberta Maria Isernia, Maria Di Salvo, Romina Manunza, Giuseppe Esposito, Marcello Agus, Emanuele Luigi Giuseppe Asti, Daniele Tiziano Bernardi, Tommaso Panici Tonucci, Davide Luppi, Massimiliano Casadei, Stefano Bonilauri, Angela Pezzolla, Annunziata Panebianco, Rita Laforgia, Maurizio De Luca, Monica Zese, Dario Parini, Elio Jovine, Giuseppina De Sario, Raffaele Lombardi, Giovanni Aprea, Giuseppe Palomba, Marianna Capuano, Giulio Argenio, Gianluca Orio, Mariano Fortunato Armellino, Marina Troian, Martina Guerra, Carlo Nagliati, Alan Biloslavo, Paola Germani, Giada Aizza, Igor Monsellato, Ali Chaouki Chahrour, Gabriele Anania, Cristina Bombardini, Francesco Bagolini, Gabriele Sganga, Pietro Fransvea, Valentina Bianchi, Paolo Boati, Francesco Ferrara, Francesco Palmieri, Pasquale Cianci, Domenico Gattulli, Enrico Restini, Nicola Cillara, Alessandro Cannavera, Gabriela Elisa Nita, Jlenia Sarnari, Francesco Roscio, Federico Clerici, Ildo Scandroglio, Stefano Berti, Alessandro Cadeo, Alice Filippelli, Luigi Conti, Carmine Grassi, Gaetano Maria Cattaneo, Marina Pighin, Davide Papis, Giovanni Gambino, Vanessa Bertino, Domenico Schifano, Daniela Prando, Luisella Fogato, Fabio Cavallo, Luca Ansaloni, Roberto Picheo, Nicholas Pontarolo, Norma Depalma, Marcello Spampinato, Stefano D’Ugo, Luca Lepre, Michela Giulii Capponi, Rossella Domenica Campa, Giuliano Sarro, Vincenza Paola Dinuzzi, Stefano Olmi, Matteo Uccelli, Davide Ferrari, Marco Inama, Gianluigi Moretto, Michele Fontana, Francesco Favi, Erika Picariello, Alessia Rampini, Andrea Barberis, Antonio Azzinnaro, Alba Oliva, Luigi Totaro, Ilaria Benzoni, Valerio Ranieri, Gabriella Teresa Capolupo, Filippo Carannante, Marco Caricato, Maurizio Ronconi, Silvia Casiraghi, Giovanni Casole, Desire Pantalone, Giovanni Alemanno, Maximilian Scheiterle, Marco Ceresoli, Marco Cereda, Chiara Fumagalli, Federico Zanzi, Stefano Bolzon, Enrico Guerra, Francesca Lecchi, Paola Cellerino, Antonella Ardito, Rosa Scaramuzzo, Andrea Balla, Pasquale Lepiane, Nicola Tartaglia, Antonio Ambrosi, Giovanna Pavone, Gian Marco Palini, Simone Veneroni, Gianluca Garulli, Claudio Ricci, Beatrice Torre, Iris Shari Russo, Matteo Rottoli, Marta Tanzanu, Angela Belvedere, Marco Milone, Michele Manigrasso, Giovanni Domenico De Palma, Micaela Piccoli, Gianmaria Casoni Pattacini, Stefano Magnone, Paolo Bertoli, Michele Pisano, Paolo Massucco, Marco Palisi, Andrea-Pierre Luzzi, Francesco Fleres, Guglielmo Clarizia, Alessandro Spolini, Yoshiro Kobe, Takayuki Toma, Fumihiko Shimamura, Robert Parker, Sinkeet Ranketi, Mercy Mitei, Saulius Svagzdys, Henrikas Pauzas, Justas Zilinskas, Tomas Poskus, Marius Kryzauskas, Matas Jakubauskas, Andee Dzulkarnaen Zakaria, Zaidi Zakaria, Michael Pak-Kai Wong, Asri Che Jusoh, Muhammad Nazreen Zakaria, Daniel Rios Cruz, Aurea Barbara Rodriguez Elizalde, Alejandro Bañon Reynaud, Edgard Efren Lozada Hernandez, Jose maria Victor Palomo Monroy, Diego Hinojosa-Ugarte, Martha Quiodettis, María Esther Du Bois, José Latorraca, Piotr Major, Michał Pędziwiatr, Magdalena Pisarska-Adamczyk, Maciej Walędziak, Andrzej Kwiatkowski, Łukasz Czyżykowski, Silvia Dantas da Costa, Bela Pereira, Ana Rita Oliveira Ferreira, Filipe Almeida, Ricardo Rocha, Carla Carneiro, Diego Pita Perez, João Carvas, Catarina Rocha, Cátia Ferreira, Rita Marques, Urânia Fernandes, Pedro Leao, André Goulart, Rita Gonçalves Pereira, Sara Daniela Direito Patrocínio, Nuno Gonçalo Gonçalves de Mendonça, Maria Isabel Cerqueira Manso, Henrique Manuel Cardoso Morais, Paulo Sebastião Cardoso, Valentin Calu, Adrian Miron, Elena Adelina Toma, Mahir Gachabayov, Abakar Abdullaev, Andrey Litvin, Taras Nechay, Alexander Tyagunov, Anvar Yuldashev, Alison Bradley, Michael Wilson, Arpád Panyko, Zuzana Látečková, Vladimír Lacko, Dusan Lesko, Marek Soltes, Jozef Radonak, Victor Turrado-Rodriguez, Roser Termes-Serra, Xavier Morales-Sevillano, Pierfrancesco Lapolla, Andrea Mingoli, Gioia Brachini, Maurizio Degiuli, Silvia Sofia, Rossella Reddavid, Andrea de Manzoni Garberini, Angelica Buffone, Eduardo Perea del Pozo, Daniel Aparicio-Sánchez, Sandra Dos Barbeito, Mercedes Estaire-Gómez, Rebeca Vitón-Herrero, Mª de los Ángeles Gil Olarte-Marquez, José Gil-Martínez, Felipe Alconchel, Tatiana Nicolás-López, Aida Cristina Rahy-Martin, María Pelloni, Raquel Bañolas-Suarez, Fernando Mendoza-Moreno, Francisca García-Moreno Nisa, Manuel Díez-Alonso, María Elisa Valle Rodas, María Carmona Agundez, María Inmaculada Pérez Andrés, Claudia Cristina Lopes Moreira, Aintzane Lizarazu Perez, Iñigo Augusto Ponce, Ana María González-Castillo, Estela Membrilla-Fernández, Silvia Salvans, Mario Serradilla-Martín, Pablo Sancho Pardo, Daniel Rivera-Alonso, Jana Dziakova, Jose Mugüerza Huguet, Naila Pagès Valle, Enrique Colás Ruiz, Cristina Rey Valcárcel, Cristina Ruiz Moreno, Yeniffer Tatiana Moreno Salazar, Juan Jesús Rubio García, Silvia Sevila Micó, Joaquín Ruiz López, Silvia Pérez Farré, Maite Santamaria Gomez, Nuria Mestres Petit, Alberto Titos-García, Jose Manuel Aranda-Narváez, Laura Romacho-López, Luis Sánchez-Guillén, Veronica Aranaz-Ostariz, Marina Bosch-Ramírez, Aleix Martínez-Pérez, Elías Martínez-López, Juan Carlos Sebastián-Tomás, Granada Jimenez-Riera, Javier Jimenez-Vega, Jose Aurelio Navas Cuellar, Andrea Campos-Serra, Anna Muñoz-Campaña, Raquel Gràcia-Roman, Javier Martínez Alegre, Francisca Lima Pinto, Sara Nuñez O’Sullivan, Francisco Blanco Antona, Beatriz Muñoz Jiménez, Jaime López-Sánchez, Zahira Gómez Carmona, Rocio Torres Fernández, Isabel Blesa Sierra, Laura Román García de León, Verónica Polaino Moreno, Eva Iglesias, Paola Lora Cumplido, Altea Arango Bravo, Ignacio Rey Simó, Carlota López Domínguez, Aloia Guerreiro Caamaño, Rafael Calleja Lozano, Manuel Durán Martínez, Álvaro Naranjo Torres, Javier Tomas Morales Bernaldo de Quiros, Gianluca Pellino, Miriam Moratal Cloquell, Elsa García Moller, Sami Jalal-Eldin, Ahmed K. Abdoun, Hytham K. S. Hamid, Varut Lohsiriwat, Aitsariya Mongkhonsupphawan, Oussama Baraket, Karim Ayed, Imed Abbassi, Ali Ben Ali, Houssem Ammar, Ali Kchaou, Ahmed Tlili, Imen Zribi, Elif Colak, Suleyman Polat, Zehra Alan Koylu, Ali Guner, Mehmet Arif Usta, Murat Emre Reis, Baris Mantoglu, Emre Gonullu, Emrah Akin, Fatih Altintoprak, Zulfu Bayhan, Necattin Firat, Arda Isik, Ufuk Memis, Mehmet Bayrak, Yasemin Altıntaş, Yasin Kara, Mehmet Abdussamet Bozkurt, Ali Kocataş, Koray Das, Ahmet Seker, Nazmi Ozer, Semra Demirli Atici, Korhan Tuncer, Tayfun Kaya, Zeynep Ozkan, Onur Ilhan, Ibrahim Agackiran, Mustafa Yener Uzunoglu, Eren Demirbas, Yuksel Altinel, Serhat Meric, Nadir Adnan Hacım, Derya Salim Uymaz, Nail Omarov, Emre Balık, Giovanni D. Tebala, Hany Khalil, Mridul Rana, Mansoor Khan, Charlotte Florence, Christie Swaminathan, Cosimo Alex Leo, Lampros Liasis, Josef Watfah, Ivan Trostchansky, Edward Delgado, Marcelo Pontillo, Rifat Latifi, Raul Coimbra, Sara Edwards, Ana Lopez, George Velmahos, Ander Dorken, Anthony Gebran, Amanda Palmer, Jeffrey Oury, James M. Bardes, Sirivan Suon Seng, Lauren S. Coffua, Asanthi Ratnasekera, Tanya Egodage, Karla Echeverria-Rosario, Isabella Armento, Lena M. Napolitano, Naveen F. Sangji, Mark Hemmila, Jacob A. Quick, Tyler R. Austin, Theodore S. Hyman, William Curtiss, Amanda McClure, Nicholas Cairl, Walter L. Biffl, Hung P. Truong, Kathryn Schaffer, Summer Reames, Filippo Banchini, Patrizio Capelli, Federico Coccolini, Massimo Sartelli, Francesca Bravi, Carlo Vallicelli, Vanni Agnoletti, Gian Luca Baiocchi, and Fausto Catena

Subjects
Hartmann’s procedure, Ostomy, Emergency surgery, Resection, Primary anastomosis, Left side, Surgery, RD1-811, Medical emergencies. Critical care. Intensive care. First aid, RC86-88.9
Abstract

Abstract Background Literature suggests colonic resection and primary anastomosis (RPA) instead of Hartmann’s procedure (HP) for the treatment of left-sided colonic emergencies. We aim to evaluate the surgical options globally used to treat patients with acute left-sided colonic emergencies and the factors that leading to the choice of treatment, comparing HP and RPA. Methods This is a prospective, international, multicenter, observational study registered on ClinicalTrials.gov. A total 1215 patients with left-sided colonic emergencies who required surgery were included from 204 centers during the period of March 1, 2020, to May 31, 2020. with a 1-year follow-up. Results 564 patients (43.1%) were females. The mean age was 65.9 ± 15.6 years. HP was performed in 697 (57.3%) patients and RPA in 384 (31.6%) cases. Complicated acute diverticulitis was the most common cause of left-sided colonic emergencies (40.2%), followed by colorectal malignancy (36.6%). Severe complications (Clavien-Dindo ≥ 3b) were higher in the HP group (P

Published
2024
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42. A new, unusually large, Clavicornaltica Scherer, 1974 flea beetle from Borneo, described and sequenced in the field by citizen scientists (Coleoptera, Chrysomelidae, Galerucinae)

Author

Sean Otani, Luca Bertoli, Filippo Lucchini, Tom van den Beuken, Desanne Boin, Lehman Ellis, Holm Friedrich, Brittany Jacquot, Sotiris Kountouras, Sarah Lim, Eleonora Nigro, Syafi’ie Su’eif, Wei Harn Tan, Ulmar Grafe, Daniele Cicuzza, Massimo Delledonne, Iva Njunjić, and Menno Schilthuizen

Subjects
Lowland Dipterocarp rainforest, citizen science, Biology (General), QH301-705.5
Abstract

The genus Clavicornaltica Scherer 1974 consists of very small, soil-dwelling flea beetles in South, Southeast and East Asia. Due to their diminutive size and morphological similarities, very little is known about their ecology and taxonomical diversity. It is likely that further studies will reveal this genus to be much more speciose than the 30 species currently recognised.A new species of Clavicornaltica from Brunei Darussalam is described, C. mataikanensis Otani et al., sp. nov. This is the second species of this genus recorded from Ulu Temburong National Park.

Published
2024
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43. Short-term effects of Mediterranean diet on nutritional status in adults affected by Osteogenesis Imperfecta: a pilot study

Author

Ramona De Amicis, Simona Bertoli, Amalia Bruno, Giulia De Carlo, Alberto Battezzati, Andrea Foppiani, Alessandro Leone, and Antonella Lo Mauro

Subjects
Osteogenesis Imperfecta, Mediterranean diet, Nutritional status, Body composition, Dietary treatment, Medicine
Abstract

Abstract Background Osteogenesis Imperfecta (OI) is a heterogeneous group of connective tissue disorders, characterized by varying degrees of skeletal fragility. Patients experience a range of comorbidities, such as obesity, cardiovascular, and gastrointestinal complications, especially in adulthood. All aspects that could benefit from dietary intervention. The aim of this study was to evaluate the effects of a 6-months restricted Mediterranean Diet (rMD) on nutritional status in adult patients affected by OI. We carried out a 6-months longitudinal pilot study. 14 adults (median age: 35 years; 7 women; 7 OI type III) where recruited in 2019 among the members of As.It.O.I., the Italian Association of Osteogenesis Imperfecta. As.It.O.I. All the evaluations were performed at the University of Milan, Italy. The rMD provided a reduction of 30% from daily total energy expenditure. 45% of calories derived from carbohydrates, 35% from fat and 0.7–1.0 g/kg of body weight from proteins. Comparisons of continuous variables after 6 months of intervention were performed by the paired t-test. All P-values were two-tailed, and p

Published
2024
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44. Geomorphology of craters located at Mercury’s north pole

Author

Silvia Bertoli, Alice Lucchetti, Maurizio Pajola, Elena Martellato, Matteo Massironi, Pamela Cambianica, Emanuele Simioni, and Gabriele Cremonese

Subjects
Cartography, Mercury, polar regions, craters, morphology, Maps, G3180-9980
Abstract

ABSTRACTWe present the first highly detailed morphological analysis of three craters located in Mercury's north pole, characterized by permanently shadowed regions (PSRs). This study, which began with an initial sample of 14 craters, highlighted three morphological classes, based on the craters’ features: Complete complex morphology, Flat-floor morphology, and Immature complex morphology, presented here as maps of three representative craters, one for each class. As demonstrated by decades of studies, areas of PSRs within these craters could host water ice deposits, making them among the most interesting targets for future studies by the ESA/JAXA’s BepiColombo mission. Our mapping work aims to give a cartographic context to subsequent chronological, thermal, and compositional analyses, as well as to provide a support to the acquisition strategy of the BepiColombo mission upon its arrival on Mercury in late 2025. The mapping highlights landforms which might be related to volcanic, gravitational, and maybe periglacial events.

Published
2024
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45. Diet and physical exercise as key players to tackle MASLD through improvement of insulin resistance and metabolic flexibility

Author

Sara Paola Mambrini, Antonio Grillo, Santo Colosimo, Francesco Zarpellon, Giorgia Pozzi, Davide Furlan, Gabriele Amodeo, and Simona Bertoli

Subjects
MASLD, physical exercise, insulin resistance, metabolic flexibility, Mediterranean diet, resistance exercise, Nutrition. Foods and food supply, TX341-641
Abstract

Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) has emerged as a prevalent health concern, encompassing a wide spectrum of liver-related disorders. Insulin resistance, a key pathophysiological feature of MASLD, can be effectively ameliorated through dietary interventions. The Mediterranean diet, rich in whole grains, fruits, vegetables, legumes, and healthy fats, has shown promising results in improving insulin sensitivity. Several components of the Mediterranean diet, such as monounsaturated fats and polyphenols, exert anti-inflammatory and antioxidant effects, thereby reducing hepatic steatosis and inflammation. Furthermore, this dietary pattern has been associated with a higher likelihood of achieving MASLD remission. In addition to dietary modifications, physical exercise, particularly resistance exercise, plays a crucial role in enhancing metabolic flexibility. Resistance exercise training promotes the utilization of fatty acids as an energy source. It enhances muscle glucose uptake and glycogen storage, thus reducing the burden on the liver to uptake excess blood glucose. Furthermore, resistance exercise stimulates muscle protein synthesis, contributing to an improved muscle-to-fat ratio and overall metabolic health. When implemented synergistically, the Mediterranean diet and resistance exercise can elicit complementary effects in combating MASLD. Combined interventions have demonstrated additive benefits, including greater improvements in insulin resistance, increased metabolic flexibility, and enhanced potential for MASLD remission. This underscores the importance of adopting a multifaceted approach encompassing dietary modifications and regular physical exercise to effectively manage MASLD. This narrative review explores the biological mechanisms of diet and physical exercise in addressing MASLD by targeting insulin resistance and decreased metabolic flexibility.

Published
2024
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47. Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals’ views and experiences

Author

Michelle Peter, Rhiannon Mellis, Hannah McInnes-Dean, Morgan Daniel, Holly Walton, Jane Fisher, Kerry Leeson-Beevers, Stephanie Allen, Emma L. Baple, Ana Beleza-Meireles, Marta Bertoli, Jennifer Campbell, Natalie Canham, Deirdre Cilliers, Jan Cobben, Jacqueline Eason, Victoria Harrison, Muriel Holder-Espinasse, Alison Male, Sahar Mansour, Alec McEwan, Soo-Mi Park, Audrey Smith, Alison Stewart, Dagmar Tapon, Pradeep Vasudevan, Denise Williams, Wing Han Wu, Lyn S. Chitty, and Melissa Hill

Subjects
prenatal exome sequencing, prenatal diagnosis, genomic sequencing, healthcare professionals, genetic services, service evaluation, Genetics, QH426-470
Abstract

IntroductionIn October 2020, rapid prenatal exome sequencing (pES) was introduced into routine National Health Service (NHS) care in England, requiring the coordination of care from specialist genetics, fetal medicine (FM) and laboratory services. This mixed methods study explored the experiences of professionals involved in delivering the pES service during the first 2 years of its delivery in the NHS.MethodsA survey (n = 159) and semi-structured interviews (n = 63) with healthcare professionals, including clinical geneticists, FM specialists, and clinical scientists (interviews only) were used to address: 1) Views on the pES service; 2) Capacity and resources involved in offering pES; 3) Awareness, knowledge, and educational needs; and 4) Ambitions and goals for the future.ResultsOverall, professionals were positive about the pES service with 77% rating it as Good or Excellent. A number of benefits were reported, including the increased opportunity for receiving actionable results for parental decision-making, improving equity of access to genomic tests and fostering close relationships between FM and genetics departments. Nonetheless, there was evidence that the shift to offering pES in a clinical setting had brought some challenges, such as additional clinic time, administrative processes, perceived lack of autonomy in decision-making regarding pES eligibility and difficulty engaging with peripheral maternity units. Concerns were also raised about the lack of confidence and gaps in genomics knowledge amongst non-genetics professionals - especially midwives. However, the findings also highlighted value in both FM, obstetric and genetics professionals benefiting from further training with a focus on recognising and managing prenatally diagnosed genetic conditions.ConclusionHealthcare professionals are enthusiastic about the benefits of pES, and through multi-collaborative working, have developed relationships that have contributed to effective communication across specialisms. Although limitations on resources and variation in knowledge about pES have impacted service delivery, professionals were hopeful that improvements to infrastructure and the upskilling of all professionals involved in the pathway would optimise the benefits of pES for both parents and professionals.

Published
2024
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48. SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation

Author

Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü, Emmanuel Beillard, Elanur Yılmaz, Seyide Ecesu Uygur, Cavit Kerem Kayhan, Luca Bosco, Zeynep Bengi Eren, Katharina Steindl, Manuela Friederike Richter, Guney Bademci, Anita Rauch, Zohreh Fattahi, Maria Lucia Valentino, Anne M. Connolly, Angela Bahr, Laura Viola, Anke Katharina Bergmann, Maria Eugenia Rocha, LeShon Peart, Derly Liseth Castro-Rojas, Eva Bültmann, Suliman Khan, Miriam Liliana Giarrana, Raluca Ioana Teleanu, Joanna Michelle Gonzalez, Antonella Pini, Ines Sophie Schädlich, Katharina Vill, Melanie Brugger, Stephan Zuchner, Andreia Pinto, Sandra Donkervoort, Stephanie Ann Bivona, Anca Riza, Undiagnosed Diseases Network, Ioana Streata, Dieter Gläser, Carolina Baquero-Montoya, Natalia Garcia-Restrepo, Urania Kotzaeridou, Theresa Brunet, Diana Anamaria Epure, Aida Bertoli-Avella, Ariana Kariminejad, Mustafa Tekin, Sandra von Hardenberg, Carsten G. Bönnemann, Georg M. Stettner, Ginevra Zanni, Hülya Kayserili, Zehra Piraye Oflazer, and Nathalie Escande-Beillard

Subjects
Science
Abstract

Abstract SNURPORTIN-1, encoded by SNUPN, plays a central role in the nuclear import of spliceosomal small nuclear ribonucleoproteins. However, its physiological function remains unexplored. In this study, we investigate 18 children from 15 unrelated families who present with atypical muscular dystrophy and neurological defects. Nine hypomorphic SNUPN biallelic variants, predominantly clustered in the last coding exon, are ascertained to segregate with the disease. We demonstrate that mutant SPN1 failed to oligomerize leading to cytoplasmic aggregation in patients’ primary fibroblasts and CRISPR/Cas9-mediated mutant cell lines. Additionally, mutant nuclei exhibit defective spliceosomal maturation and breakdown of Cajal bodies. Transcriptome analyses reveal splicing and mRNA expression dysregulation, particularly in sarcolemmal components, causing disruption of cytoskeletal organization in mutant cells and patient muscle tissues. Our findings establish SNUPN deficiency as the genetic etiology of a previously unrecognized subtype of muscular dystrophy and provide robust evidence of the role of SPN1 for muscle homeostasis.

Published
2024
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49. Oncogenic c-Myc induces replication stress by increasing cohesins chromatin occupancy in a CTCF-dependent manner

Author

Silvia Peripolli, Leticia Meneguello, Chiara Perrod, Tanya Singh, Harshil Patel, Sazia T. Rahman, Koshiro Kiso, Peter Thorpe, Vincenzo Calvanese, Cosetta Bertoli, and Robertus A. M. de Bruin

Subjects
Science
Abstract

Abstract Oncogene-induced replication stress is a crucial driver of genomic instability and one of the key events contributing to the onset and evolution of cancer. Despite its critical role in cancer, the mechanisms that generate oncogene-induced replication stress remain not fully understood. Here, we report that an oncogenic c-Myc-dependent increase in cohesins on DNA contributes to the induction of replication stress. Accumulation of cohesins on chromatin is not sufficient to cause replication stress, but also requires cohesins to accumulate at specific sites in a CTCF-dependent manner. We propose that the increased accumulation of cohesins at CTCF site interferes with the progression of replication forks, contributing to oncogene-induced replication stress. This is different from, and independent of, previously suggested mechanisms of oncogene-induced replication stress. This, together with the reported protective role of cohesins in preventing replication stress-induced DNA damage, supports a double-edge involvement of cohesins in causing and tolerating oncogene-induced replication stress.

Published
2024
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50. Elucidating the role of Pyroptosis in papillary thyroid cancer: prognostic, immunological, and therapeutic perspectives

Author

Fang Li, Rui Du, Jiedong Kou, Jingting Li, Le Zhou, Daqi Zhang, Yantao Fu, Gianlorenzo Dionigi, Simona Bertoli, Hui Sun, and Nan Liang

Subjects
Pyroptosis, Thyroid cancer, Tumor immune microenvironment, Prognosis, Therapy, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Cytology, QH573-671
Abstract

Abstract Background Pyroptosis, an inflammatory form of programmed cell death, has been implicated in the pathogenesis and progression of several cancers. However, the significance of pyroptosis-related genes (PRGs) in papillary thyroid cancer (PTC) remains unclear. Methods Transcriptome and clinical data of PTC patients were obtained from The Cancer Genome Atlas. The expression patterns of PRGs were identified by consensus clustering. A prognostic model for predicting the thyroid cancer-free interval (TCFi) employed five machine learning methods. Enrichment and immune-related analyses were performed to elucidate the role of pyroptosis. The responses to radioactive iodine (RAI), immune checkpoint inhibitors (ICIs), molecular targeted therapy (MTT), and chemotherapy (CTx) were predicted based on pyroptosis-derived features. Additionally, the expression of prognostic PRGs was validated via six external datasets, 16 cell lines, and 20 pairs of clinical samples. Results PTC patients were classified into three PyroClusters, C1 exhibited BRFA-like tumors with the highest invasiveness and the worst prognosis, C2 presented RAS-like tumors, and C3 was characterized by gene fusion. Nine PRGs (CXCL8, GJA1, H2BC8, IFI27, PRDM1, PYCARD, SEZ6L2, SIGLEC15, TRAF6) were filtered out to construct a PyroScore prognostic model. A derived nomogram demonstrated superior predictive performance than four clinical staging systems. A strong correlation between pyroptosis and tumor immune microenvironment (TIME) remodeling was observed in mechanistic analyses. Patients with a high PyroScore exhibited “hot” tumor immunophenotypes and had a poorer prognosis but could benefit more from ICIs and CTx (such as paclitaxel). Patients with a low PyroScore were more sensitive to RAI and MTT (such as pazopanib and sorafenib). Conclusions PyroScore model can effectively predict TCFi in patients with PTC. Dysregulated expression of PRGs is associated with the TIME modeling. Pyroptosis features have potential significance for developing novel therapeutic strategies for PTC patients.

Published
2024
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