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1. Upright to supine image registration and contour propagation for thoracic patients

Author

Martire, M. C., Volz, L., Galeone, C., Durante, M., Pankuch, M., and Graeff, C.

Subjects
Physics - Medical Physics
Abstract

A renewed interest in upright therapy is currently driven by the availability of upright positioning and imaging systems. Aside from reduced cost, upright positioning possibly provides clinical advantages. The comparison between upright and supine particle therapy treatments can be biased through multiple variables, such as differences in the target contouring on the two CTs. We present a method for upright and supine CT registration and structures propagation, and the investigation of an AI-based contouring tool for upright images. Six paired 4DCTs from Proton Therapy Collaboration Group registry were available from the Northwestern Medicine Proton Centre. Deformable image registration (DIR) is challenged by the different patient anatomy between postures, causing artefacts in the warped images. To achieve high quality contour propagation, we propose the construction of a region of interest covering the ribcage volume to overcome this problem. As no target contour ground truth was available, the registration quality analysis (QA) was performed on lung structures, for which dice score coefficient (DSC) and average Hausdorff distance (AHD) is reported. The TotalSegmentator tool, trained on supine dataset, was applied on upright images, verified against lung structures and used as additional comparison for contour propagation. The TotalSegmentator QA results in a maximum AHD of 2mm and a minimum DSC of 0.94. An average AHD of 1.5mm and 1.6mm, and an average DSC of 0.95 and 0.94 were obtained comparing the propagated volumes to manually contoured and AI structures, respectively. All AHD values are smaller than the CT slice distances. The developed framework allows for target propagation between upright and supine images, defining the first step to compare upright and supine therapy of thoracic patients and enabling the application of image fusion techniques in the upright therapy field.

Published
2024

6. Reported antibiotic use among patients in the multicenter ANDEMIA infectious diseases surveillance study in sub-saharan Africa

Author

Wieters, Imke, Johnstone, Siobhan, Makiala-Mandanda, Sheila, Poda, Armel, Akoua-Koffi, Chantal, Abu Sin, Muna, Eckmanns, Tim, Galeone, Valentina, Kaboré, Firmin Nongodo, Kahwata, François, Leendertz, Fabian H., Mputu, Benoit, Ouedraogo, Abdoul-Salam, Page, Nicola, Schink, Susanne B., Touré, Fidèle Sounan, Traoré, Adjaratou, Venter, Marietjie, Vietor, Ann Christin, Schubert, Grit, and Tomczyk, Sara

Published
2024
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7. Daratumumab-based regimens for patients with multiple myeloma plus extramedullary plasmacytomas or paraskeletal plasmacytomas: initial follow-up of an Italian multicenter observational clinical experience

Author

Mele, Giuseppe, Derudas, Daniele, Conticello, Concetta, Barilà, Gregorio, Gentile, Massimo, Rocco, Stefano, Palmieri, Salvatore, Palazzo, Giulia, Germano, Candida, Reddiconto, Giovanni, Sgherza, Nicola, De Novellis, Danilo, Galeone, Carlotta, Castiglioni, Sara Agavni’, Deiana, Luca, Pascarella, Anna, Martino, Enrica Antonia, Foggetti, Ilaria, Blasi, Ilenia, Spina, Alessandro, Di Renzo, Nicola, Maggi, Alessandro, Tarantini, Giuseppe, Di Raimondo, Francesco, Specchia, Giorgina, Musto, Pellegrino, and Pastore, Domenico

Published
2024
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9. Faricimab versus the standard of care for neovascular age-related macular degeneration in Italy: an indirect treatment comparison

Author

Carlotta Galeone, Federica Turati, Massimo Nicolò, Mariacristina Parravano, Stela Vujosevic, Laura Bianchino, Emilia Sicari, and Paolo Lanzetta

Subjects
Faricimab, Indirect treatment comparison, nAMD, Vascular endothelial growth factor A, Therapeutics. Pharmacology, RM1-950
Abstract

Objectives: To assess through an indirect treatment comparison (ITC) the potential benefit of faricimab over the anti-vascular endothelial growth factor (VEGF) real-life scenario, hereby defined standard of care (SoC), in Italy, that is, aflibercept, bevacizumab, and ranibizumab, in patients with neovascular age-related macular degeneration (nAMD) naïve to any anti-VEGF treatment. Methods: Individual patient-level data from the phase III clinical trials TENAYA and LUCERNE (faricimab cohort) and the real-world study RADIANCE (RADIANCE cohort) were used. Efficacy was evaluated with changes in best corrected visual acuity (BCVA) and central subfield thickness (CST) from baseline to 1 year (week 52 in the RADIANCE and week 48 in the faricimab cohorts, respectively). Propensity score-based inverse probability of treatment weighting was utilized to balance cohorts and mitigate bias due to potential confounding. Sensitivity analyses were performed to evaluate treatment differences adjusted for the number of injections. Results: The ITC included 513 patients treated with faricimab and 263 patients treated with SoC. At 1 year, faricimab showed a greater mean BCVA gain (treatment difference +5.4 letters, p

Published
2024
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10. Time-dependent phenotypical changes of microglia drive alterations in hippocampal synaptic transmission in acute slices

Author

Laura Ferrucci, Bernadette Basilico, Ingrid Reverte, Francesca Pagani, Giorgia Scaringi, Federica Cordella, Barbara Cortese, Gaia De Propris, Andrea Galeone, Letizia Mazzarella, Alessandro Mormino, Stefano Garofalo, Azka Khan, Valeria De Turris, Valentina Ferretti, Paola Bezzi, Cornelius Gross, Daniele Caprioli, Cristina Limatola, Silvia Di Angelantonio, and Davide Ragozzino

Subjects
microglia, acute slices, synaptic transmission, microglia reactivity, electrophysiology, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Abstract

It is widely acknowledged that microglia actively regulate synaptic function in the brain. Remarkably, much of our understanding regarding the role of microglia in synaptic regulation is derived from studies in acute brain slices. However, it is still uncertain to what extent the preparation and maintenance of acute slices can influence microglial function and whether microglial changes may affect synaptic transmission. In this study, we examined the impact of acute slice resting time on hippocampal CA1 microglia, by assessing morphological and functional parameters at two distinct time intervals. We report that after 4 h from slicing microglia undergo morphological, functional, and transcriptional changes, including a decrease in the number of branches and in their movement speed. Furthermore, microglia acquire a reactive phenotype, characterized by increased amplitude of outward rectifying K+ currents, increased expression of the pro-inflammatory cytokine Tnfα and altered expression of the microglial receptors Cx3cr1 and P2y12r. We also examined time-dependent changes of excitatory synaptic transmission in CA1 pyramidal neurons from acute hippocampal slices, reporting time-dependent decrease in both amplitude and frequency of postsynaptic currents (sEPSCs), along with a decrease in spine density. Noticeably, sEPSCs amplitude decrease was absent in slices prepared from PLX5622 microglia-depleted mice, suggesting that this time-dependent effect on synaptic transmission is microglia-dependent. Our findings highlight possible causal relation between microglia phenotypic changes in the hours following slice preparation and concomitant synaptic changes, pointing to the mechanisms of acute synaptic modulation, whose understanding is crucial for unraveling microglia-neurons interplay in nature. Furthermore, they emphasize the potential issues associated with experimental time windows in ex vivo samples.

Published
2024
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12. Against Odds of Prolonged Warm Ischemia: Early Experience With DCD Heart Transplantation After 20-Minute No-Touch Period

Author

Gerosa, Gino, Battista Luciani, Giovanni, Pradegan, Nicola, Tarzia, Vincenzo, Lena, Tea, Zanatta, Paolo, Pittarello, Demetrio, Onorati, Francesco, Galeone, Antonella, Gottin, Leonardo, Boffini, Massimo, Zanierato, Marinella, Marro, Matteo, Martin Suarez, Sofia, Botta, Luca, Lilla della Monica, Paola, Feccia, Mariano, Olivieri, Guido Maria, Terzi, Amedeo, Oliveti, Alessandra, Feltrin, Giuseppe, Cardillo, Massimo, Russo, Claudio Francesco, Pacini, Davide, and Rinaldi, Mauro

Published
2024
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14. Data acquisition system for a 146-channel counter of protons in particle therapy

Author

Giordanengo, S., Abujami, M., Galeone, C., Garbolino, S., Villarreal, O. A. Martì, Milian, F. Mas, Mazza, G., Mignone, M., Vignati, A., Wheadon, R., Cirio, R., Monaco, V., and Sacchi, R.

Subjects
Physics - Instrumentation and Detectors, Physics - Medical Physics
Abstract

A prototype of proton counter was developed by the University and the National Institute for Nuclear Physics of Torino to be used as online fluence beam monitor in particle therapy. The single particle identification approach aims at increasing the sensitivity and readout speed with respect to the state-of-the-art gas ionization chambers. The sensitive area is 2,7 x 2,7 cm^2 to cover the clinical beam cross section characterized by a full width at half maximum of about 1 cm at the isocenter. The sensor is a thin Low Gain Avalanche Diode segmented in 146 strips with 180 micrometer pitch and with 50 micrometer active thickness, designed and produced by the Fondazione Bruno Kessler (Trento, Italy). The frontend readout to identify the single proton signal provided by each strip is based on a 24channel custom ASICs, named ABACUS, optimized to discriminate the signal pulses in a wide charge range (3-150 fC) with a maximum dead-time of 10 ns. With these specifications, at the maximum fluence rate of 10^8 p/(cm^2s) in the clinical energy range (60-230 MeV) and considering the silicon strips described above, a maximum pileup counting inefficiency less than 1 percent is achieved. A frontend board housing 6 ABACUS chips to readout the 146 strips was developed, the digital outputs being sent to 3 FPGAs (Kintex7) for the counting. A LabVIEW program implements the interface with the FPGAs, displays online the counting rate from each strip and stores the data for offline analysis.

Published
2022

15. Mean Arterial Pressure (MAP) Trial: study protocol for a multicentre, randomized, controlled trial to compare three different strategies of mean arterial pressure management during cardiopulmonary bypass

Author

Alessandra Francica, Gina Mazzeo, Antonella Galeone, Daniele Linardi, Livio San Biagio, Giovanni Battista Luciani, and Francesco Onorati

Subjects
Cardiopulmonary bypass, Mean arterial pressure, Cardiac surgery, Randomized controlled trial, Medicine (General), R5-920
Abstract

Abstract Background One of the main goals of cardiopulmonary bypass (CPB) is targeting an adequate mean arterial pressure (MAP) during heart surgery, in order to maintain appropriate perfusion pressures in all end-organs. As inheritance of early studies, a value of 50–60 mmHg has been historically accepted as the “gold standard” MAP. However, in the last decades, the CPB management has remarkably changed, thanks to the evolution of technology and the availability of new biomaterials. Therefore, as highlighted by the latest European Guidelines, the current management of CPB can no longer refer to those pioneering studies. To date, only few single-centre studies have compared different strategies of MAP management during CPB, but with contradictory findings and without achieving a real consensus. Therefore, what should be the ideal strategy of MAP management during CPB is still on debate. This trial is the first multicentre, randomized, controlled study which compares three different strategies of MAP management during the CPB. Methods We described herein the methodology of a multicentre, randomized, controlled trial comparing three different approaches to MAP management during CPB in patients undergoing elective cardiac surgery: the historically accepted “standard MAP” (50–60 mmHg), the “high MAP” (70–80 mmHg) and the “patient-tailored MAP” (comparable to the patient’s preoperative MAP). It is the aim of the study to find the most suitable management in order to obtain the most adequate perfusion of end-organs during cardiac surgery. For this purpose, the primary endpoint will be the peak of serum lactate (Lmax) released during CPB, as index of tissue hypoxia. The secondary outcomes will include all the intraoperative parameters of tissue oxygenation and major postoperative complications related to organ malperfusion. Discussion This trial will assess the best strategy to target the MAP during CPB, thus further improving the outcomes of cardiac surgery. Trial registration NCT05740397 (retrospectively registered; 22/02/2023)

Published
2024
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16. Reported antibiotic use among patients in the multicenter ANDEMIA infectious diseases surveillance study in sub-saharan Africa

Author

Imke Wieters, Siobhan Johnstone, Sheila Makiala-Mandanda, Armel Poda, Chantal Akoua-Koffi, Muna Abu Sin, Tim Eckmanns, Valentina Galeone, Firmin Nongodo Kaboré, François Kahwata, Fabian H. Leendertz, Benoit Mputu, Abdoul-Salam Ouedraogo, Nicola Page, Susanne B. Schink, Fidèle Sounan Touré, Adjaratou Traoré, Marietjie Venter, Ann Christin Vietor, Grit Schubert, and Sara Tomczyk

Subjects
Antimicrobial resistance, Antibiotic use, WHO AWaRe classification, Low- and middle-income countries, Sub-saharan Africa, Infectious and parasitic diseases, RC109-216
Abstract

Abstract Background Exposure to antibiotics has been shown to be one of the drivers of antimicrobial resistance (AMR) and is critical to address when planning and implementing strategies for combatting AMR. However, data on antibiotic use in sub-Saharan Africa are still limited. Using hospital-based surveillance data from the African Network for Improved Diagnostics, Epidemiology and Management of Common Infectious Agents (ANDEMIA), we assessed self-reported antibiotic use in multiple sub-Saharan African countries. Methods ANDEMIA included 12 urban and rural health facilities in Côte d’Ivoire, Burkina Faso, Democratic Republic of the Congo, and Republic of South Africa. Patients with acute respiratory infection (RTI), acute gastrointestinal infection (GI) and acute febrile disease of unknown cause (AFDUC) were routinely enrolled, and clinical, demographic, socio-economic and behavioral data were collected using standardized questionnaires. An analysis of ANDEMIA data from February 2018 to May 2022 was conducted. Reported antibiotic use in the ten days prior to study enrolment were described by substance and by the WHO AWaRe classification (“Access”, “Watch”, “Reserve”, and “Not recommended” antibiotics). Frequency of antibiotic use was stratified by location, disease syndrome and individual patient factors. Results Among 19,700 ANDEMIA patients, 7,258 (36.8%) reported antibiotic use. A total of 9,695 antibiotics were reported, including 54.7% (n = 5,299) from the WHO Access antibiotic group and 44.7% (n = 4,330) from the WHO Watch antibiotic group. The Watch antibiotic ceftriaxone was the most commonly reported antibiotic (n = 3,071, 31.7%). Watch antibiotic use ranged from 17.4% (56/322) among RTI patients in Côte d’Ivoire urban facilities to 73.7% (630/855) among AFDUC patients in Burkina Faso urban facilities. Reported antibiotic use included WHO Not recommended antibiotics but no Reserve antibiotics. Conclusions Reported antibiotic use data from this multicenter study in sub-Saharan Africa revealed a high proportion of WHO Watch antibiotics. Differences in Watch antibiotic use were found by disease syndrome, country and health facility location, which calls for a more differentiated approach to antibiotic use interventions including further evaluation of accessibility and affordability of patient treatment.

Published
2024
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17. Towards Neural Sparse Linear Solvers

Author

Grementieri, Luca and Galeone, Paolo

Subjects
Computer Science - Machine Learning, Mathematics - Numerical Analysis, G.1.3
Abstract

Large sparse symmetric linear systems appear in several branches of science and engineering thanks to the widespread use of the finite element method (FEM). The fastest sparse linear solvers available implement hybrid iterative methods. These methods are based on heuristic algorithms to permute rows and columns or find a preconditioner matrix. In addition, they are inherently sequential, making them unable to leverage the GPU processing power entirely. We propose neural sparse linear solvers, a deep learning framework to learn approximate solvers for sparse symmetric linear systems. Our method relies on representing a sparse symmetric linear system as an undirected weighted graph. Such graph representation is inherently permutation-equivariant and scale-invariant, and it can become the input to a graph neural network trained to regress the solution. We test neural sparse linear solvers on static linear analysis problems from structural engineering. Our method is less accurate than classic algorithms, but it is hardware-independent, fast on GPUs, and applicable to generic sparse symmetric systems without any additional hypothesis. Although many limitations remain, this study shows a general approach to tackle problems involving sparse symmetric matrices using graph neural networks., Comment: 8. pages, 3 figures

Published
2022

18. Multi-disciplinary Insights from the First European Forum on Visceral Myopathy 2022 Meeting

Author

Viti, Federica, De Giorgio, Roberto, Ceccherini, Isabella, Ahluwalia, Arti, Alves, Maria M., Baldo, Chiara, Baldussi, Giannina, Bonora, Elena, Borrelli, Osvaldo, Dall’Oglio, Luigi, De Coppi, Paolo, De Filippo, Carlotta, de Santa Barbara, Pascal, Diamanti, Antonella, Di Lorenzo, Carlo, Di Maulo, Ruggero, Galeone, Antonio, Gandullia, Paolo, Hashmi, Sohaib K., Lacaille, Florence, Lancon, Laurence, Leone, Salvatore, Mahé, Maxime M., Molnar, Maria Judit, Palmitelli, Alessandro, Perin, Silvia, Prato, Alessio Pini, Thapar, Nikhil, Vassalli, Massimo, and Heuckeroth, Robert O.

Published
2023
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21. Allium vegetables intake and the risk of gastric cancer in the Stomach cancer Pooling (StoP) Project

Author

Dalmartello, Michela, Turati, Federica, Zhang, Zuo-Feng, Lunet, Nuno, Rota, Matteo, Bonzi, Rossella, Galeone, Carlotta, Martimianaki, Georgia, Palli, Domenico, Ferraroni, Monica, Yu, Guo-Pei, Morais, Samantha, Malekzadeh, Reza, López-Carrillo, Lizbeth, Zaridze, David, Maximovitch, Dmitry, Aragonés, Nuria, Fernández-Tardón, Guillermo, Martin, Vicente, Vioque, Jesus, Garcia de la Hera, Manoli, Curado, Maria Paula, Coimbra, Felipe Jose Fernandez, Assumpcao, Paulo, Pakseresht, Mohammadreza, Hu, Jinfu, Hernández-Ramírez, Raúl Ulises, Ward, Mary H, Pourfarzi, Farhad, Mu, Lina, Tsugane, Shoichiro, Hidaka, Akihisa, Lagiou, Pagona, Lagiou, Areti, Trichopoulou, Antonia, Karakatsani, Anna, Boffetta, Paolo, Camargo, M Costanza, Negri, Eva, La Vecchia, Carlo, and Pelucchi, Claudio

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Clinical Research, Cancer, Case-Control Studies, Diet, Garlic, Humans, Risk Factors, Stomach Neoplasms, Vegetables, Public Health and Health Services, Oncology & Carcinogenesis, Oncology and carcinogenesis
Abstract

BackgroundThe role of allium vegetables on gastric cancer (GC) risk remains unclear.MethodsWe evaluated whether higher intakes of allium vegetables reduce GC risk using individual participant data from 17 studies participating in the "Stomach cancer Pooling (StoP) Project", including 6097 GC cases and 13,017 controls. Study-specific odds ratios (ORs) were pooled using a two-stage modelling approach.ResultsTotal allium vegetables intake was inversely associated with GC risk. The pooled OR for the highest versus the lowest study-specific tertile of consumption was 0.71 (95% confidence interval, CI, 0.56-0.90), with substantial heterogeneity across studies (I2 > 50%). Pooled ORs for high versus low consumption were 0.69 (95% CI, 0.55-0.86) for onions and 0.83 (95% CI, 0.75-0.93) for garlic. The inverse association with allium vegetables was evident in Asian (OR 0.50, 95% CI, 0.29-0.86) but not European (OR 0.96, 95% CI, 0.81-1.13) and American (OR 0.66, 95% CI, 0.39-1.11) studies. Results were consistent across all other strata.ConclusionsIn a worldwide consortium of epidemiological studies, we found an inverse association between allium vegetables and GC, with a stronger association seen in Asian studies. The heterogeneity of results across geographic regions and possible residual confounding suggest caution in results interpretation.

Published
2022

23. Evolutionary Insights from Association Rule Mining of Co-Occurring Mutations in Influenza Hemagglutinin and Neuraminidase

Author

Valentina Galeone, Carol Lee, Michael T. Monaghan, Denis C. Bauer, and Laurence O. W. Wilson

Subjects
influenza, H3N2, association rule mining, antigenic drift, co-occurring mutations, Microbiology, QR1-502
Abstract

Seasonal influenza viruses continuously evolve via antigenic drift. This leads to recurring epidemics, globally significant mortality rates, and the need for annually updated vaccines. Co-occurring mutations in hemagglutinin (HA) and neuraminidase (NA) are suggested to have synergistic interactions where mutations can increase the chances of immune escape and viral fitness. Association rule mining was used to identify temporal relationships of co-occurring HA–NA mutations of influenza virus A/H3N2 and its role in antigenic evolution. A total of 64 clusters were found. These included well-known mutations responsible for antigenic drift, as well as previously undiscovered groups. A majority (41/64) were associated with known antigenic sites, and 38/64 involved mutations across both HA and NA. The emergence and disappearance of N-glycosylation sites in the pattern of N-X-[S/T] were also identified, which are crucial post-translational processes to maintain protein stability and functional balance (e.g., emergence of NA:339ASP and disappearance of HA:187ASP). Our study offers an alternative approach to the existing mutual-information and phylogenetic methods used to identify co-occurring mutations, enabling faster processing of large amounts of data. Our approach can facilitate the prediction of critical mutations given their occurrence in a previous season, facilitating vaccine development for the next flu season and leading to better preparation for future pandemics.

Published
2024
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24. Worldwide trends in underweight and obesity from 1990 to 2022: a pooled analysis of 3663 population-representative studies with 222 million children, adolescents, and adults

Author

Phelps, Nowell H, Singleton, Rosie K, Zhou, Bin, Heap, Rachel A, Mishra, Anu, Bennett, James E, Paciorek, Christopher J, Lhoste, Victor PF, Carrillo-Larco, Rodrigo M, Stevens, Gretchen A, Rodriguez-Martinez, Andrea, Bixby, Honor, Bentham, James, Di Cesare, Mariachiara, Danaei, Goodarz, Rayner, Archie W, Barradas-Pires, Ana, Cowan, Melanie J, Savin, Stefan, Riley, Leanne M, Aguilar-Salinas, Carlos A, Baker, Jennifer L, Barkat, Amina, Bhutta, Zulfiqar A, Branca, Francesco, Caixeta, Roberta B, Cuschieri, Sarah, Farzadfar, Farshad, Ganapathy, Shubash, Ikeda, Nayu, Iotova, Violeta, Kengne, Andre P, Khang, Young-Ho, Laxmaiah, Avula, Lin, Hsien-Ho, Ma, Jun, Mbanya, Jean Claude N, Miranda, J Jaime, Pradeepa, Rajendra, Rodríguez-Artalejo, Fernando, Sorić, Maroje, Turley, Maria, Wang, Limin, Webster-Kerr, Karen, Aarestrup, Julie, Abarca-Gómez, Leandra, Abbasi-Kangevari, Mohsen, Abdeen, Ziad A, Abdrakhmanova, Shynar, Abdul Ghaffar, Suhaila, Abdul Rahim, Hanan F, Abdurrahmonova, Zulfiya, Abu-Rmeileh, Niveen M, Abubakar Garba, Jamila, Acosta-Cazares, Benjamin, Adam, Ishag, Adamczyk, Marzena, Adams, Robert J, Adu-Afarwuah, Seth, Aekplakorn, Wichai, Afsana, Kaosar, Afzal, Shoaib, Agbor, Valirie N, Agdeppa, Imelda A, Aghazadeh-Attari, Javad, Ågren, Åsa, Aguenaou, Hassan, Agyemang, Charles, Ahmad, Mohamad Hasnan, Ahmad, Noor Ani, Ahmadi, Ali, Ahmadi, Naser, Ahmadi, Nastaran, Ahmed, Imran, Ahmed, Soheir H, Ahrens, Wolfgang, Aitmurzaeva, Gulmira, Ajlouni, Kamel, Al-Hazzaa, Hazzaa M, Al-Hinai, Halima, Al-Lahou, Badreya, Al-Lawati, Jawad A, Al-Raddadi, Rajaa, Al Asfoor, Deena, Al Hourani, Huda M, Al Qaoud, Nawal M, Alarouj, Monira, AlBuhairan, Fadia, AlDhukair, Shahla, Aldwairji, Maryam A, Alexius, Sylvia, Ali, Mohamed M, Alieva, Anna V, Alkandari, Abdullah, Alkerwi, Ala'a, Alkhatib, Buthaina M, Allin, Kristine, Alomary, Shaker A, Alomirah, Husam F, Alshangiti, Arwa M, Alvarez-Pedrerol, Mar, Aly, Eman, Amarapurkar, Deepak N, Amiano Etxezarreta, Pilar, Amoah, John, Amougou, Norbert, Amouyel, Philippe, Andersen, Lars Bo, Anderssen, Sigmund A, Androutsos, Odysseas, Ängquist, Lars, Anjana, Ranjit Mohan, Ansari-Moghaddam, Alireza, Anufrieva, Elena, Aounallah-Skhiri, Hajer, Araújo, Joana, Ariansen, Inger, Aris, Tahir, Arku, Raphael E, Arlappa, Nimmathota, Aryal, Krishna K, Assefa, Nega, Aspelund, Thor, Assah, Felix K, Assembekov, Batyrbek, Assunção, Maria Cecília F, Aung, May Soe, Aurélio de Valois, Correia Júnior Marco, Auvinen, Juha, Avdičová, Mária, Avi, Shina, Azad, Kishwar, Azevedo, Ana, Azimi-Nezhad, Mohsen, Azizi, Fereidoun, Babu, Bontha V, Bacopoulou, Flora, Bæksgaard Jørgensen, Maja, Baharudin, Azli, Bahijri, Suhad, Bajramovic, Izet, Bakacs, Marta, Balakrishna, Nagalla, Balanova, Yulia, Bamoshmoosh, Mohamed, Banach, Maciej, Banegas, José R, Baran, Joanna, Baran, Rafał, Barbagallo, Carlo M, Barbosa Filho, Valter, Barceló, Alberto, Baretić, Maja, Barnoya, Joaquin, Barrera, Lena, Barreto, Marta, Barros, Aluisio JD, Barros, Mauro Virgílio Gomes, Bartosiewicz, Anna, Basit, Abdul, Bastos, Joao Luiz, Bata, Iqbal, Batieha, Anwar M, Batista, Aline P, Batista, Rosangela L, Battakova, Zhamilya, Baur, Louise A, Bayauli, Pascal M, Beaglehole, Robert, Bel-Serrat, Silvia, Belavendra, Antonisamy, Ben Romdhane, Habiba, Benedek, Theodora, Benedics, Judith, Benet, Mikhail, Benitez Rolandi, Gilda Estela, Benzeval, Michaela, Bere, Elling, Berger, Nicolas, Bergh, Ingunn Holden, Berhane, Yemane, Berkinbayev, Salim, Bernabe-Ortiz, Antonio, Bernotiene, Gailute, Berrios Carrasola, Ximena, Bettiol, Heloísa, Beutel, Manfred E, Beybey, Augustin F, Bezerra, Jorge, Bhagyalaxmi, Aroor, Bharadwaj, Sumit, Bhargava, Santosh K, Bi, Hongsheng, Bi, Yufang, Bia, Daniel, Biasch, Katia, Bika Lele, Elysée Claude, Bikbov, Mukharram M, Bista, Bihungum, Bjelica, Dusko J, Bjerregaard, Anne A, Bjerregaard, Peter, Bjertness, Espen, Bjertness, Marius B, Björkelund, Cecilia, Bloch, Katia V, Blokstra, Anneke, Blychfeld Magnazu, Moran, Bo, Simona, Bobak, Martin, Boddy, Lynne M, Boehm, Bernhard O, Boer, Jolanda MA, Boggia, Jose G, Bogova, Elena, Boissonnet, Carlos P, Bojesen, Stig E, Bonaccio, Marialaura, Bongard, Vanina, Bonilla-Vargas, Alice, Bopp, Matthias, Borghs, Herman, Botomba, Steve, Bourne, Rupert RA, Bovet, Pascal, Boymatova, Khadichamo, Braeckevelt, Lien, Braeckman, Lutgart, Bragt, Marjolijn CE, Braithwaite, Tasanee, Brajkovich, Imperia, Breckenkamp, Juergen, Breda, João, Brenner, Hermann, Brewster, Lizzy M, Brian, Garry R, Briceño, Yajaira, Brinduse, Lacramioara, Bringolf-Isler, Bettina, Brito, Miguel, Brophy, Sinead, Brug, Johannes, Bruno, Graziella, Bugge, Anna, Buoncristiano, Marta, Burazeri, Genc, Burns, Con, Cabrera de León, Antonio, Cacciottolo, Joseph, Cai, Hui, Cama, Tilema, Cameron, Christine, Camolas, José, Can, Günay, Cândido, Ana Paula c, Cañete, Felicia, Capanzana, Mario V, Čapková, Naděžda, Capuano, Eduardo, Capuano, Rocco, Capuano, Vincenzo, Cardol, Marloes, Cardoso, Viviane C, Carlsson, Axel C, Carmuega, Esteban, Carvalho, Joana, Casajús, José A, Casanueva, Felipe F, Casas, Maribel, Celikcan, Ertugrul, Censi, Laura, Cervantes-Loaiza, Marvin, Cesar, Juraci A, Chamnan, Parinya, Chamukuttan, Snehalatha, Chan, Angelique, Chan, Queenie, Charchar, Fadi J, Charles, Marie-Aline, Chaturvedi, Himanshu K, Chaturvedi, Nish, Che Abdul Rahim, Norsyamlina, Chee, Miao Li, Chen, Chien-Jen, Chen, Fangfang, Chen, Huashuai, Chen, Long-Sheng, Chen, Shuohua, Chen, Zhengming, Cheng, Ching-Yu, Cheng, Yiling J, Cheraghian, Bahman, Chetrit, Angela, Chikova-Iscener, Ekaterina, Chinapaw, Mai JM, Chinnock, Anne, Chiolero, Arnaud, Chiou, Shu-Ti, Chirita-Emandi, Adela, Chirlaque, María-Dolores, Cho, Belong, Christensen, Kaare, Christofaro, Diego G, Chudek, Jerzy, Cifkova, Renata, Cilia, Michelle, Cinteza, Eliza, Cirillo, Massimo, Claessens, Frank, Clare, Philip, Clarke, Janine, Clays, Els, Cohen, Emmanuel, Cojocaru, Cosmin R, Colorado-Yohar, Sandra, Compañ-Gabucio, Laura-María, Concin, Hans, Confortin, Susana C, Cooper, Cyrus, 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Parsaeian, Mahboubeh, Pascanu, Ionela M, Pasquet, Patrick, Patel, Nikhil D, Pattussi, Marcos, Pavlyshyn, Halyna, Pechlaner, Raimund, Pećin, Ivan, Pednekar, Mangesh S, Pedro, João M, Peer, Nasheeta, Peixoto, Sergio Viana, Peltonen, Markku, Pereira, Alexandre C, Peres, Marco A, Perez-Londoño, Agustín, Pérez, Cynthia M, Peterkova, Valentina, Peters, Annette, Petkeviciene, Janina, Petrauskiene, Ausra, Petrovna Kovtun, Olga, Pettenuzzo, Emanuela, Peykari, Niloofar, Pfeiffer, Norbert, Phall, Modou Cheyassin, Pham, Son Thai, Phiri, Felix P, Pichardo, Rafael N, Pierannunzio, Daniela, Pierre-Marie, Preux, Pigeot, Iris, Pikhart, Hynek, Pilav, Aida, Piler, Pavel, Pilotto, Lorenza, Pistelli, Francesco, Pitakaka, Freda, Piwonska, Aleksandra, Pizarro, Andreia N, Plans-Rubió, Pedro, Platonova, Alina G, Poh, Bee Koon, Pohlabeln, Hermann, Polka, Nadija S, Pop, Raluca M, Popkin, Barry M, Popovic, Stevo R, Porta, Miquel, Posch, Georg, Poudyal, Anil, Poulimeneas, Dimitrios, Pouraram, Hamed, Pourfarzi, Farhad, Pourshams, Akram, Poustchi, Hossein, Price, Alison J, Price, Jacqueline F, Prista, Antonio, Providencia, Rui, Puder, Jardena J, Pudule, Iveta, Puhakka, Solie, Puiu, Maria, Punab, Margus, Qadir, Muhammed S, Qasrawi, Radwan F, Qiao, Qing, Qorbani, Mostafa, Quintana, Hedley K, Quiroga-Padilla, Pedro J, Quoc Bao, Tran, Rach, Stefan, Radic, Ivana, Radisauskas, Ricardas, Rahimikazerooni, Salar, Rahman, Mahfuzar, Rahman, Mahmudur, Raitakari, Olli, Raj, Manu, Rajabov, Tamerlan, Rakhmatulloev, Sherali, Rakovac, Ivo, Ramachandra Rao, Sudha, Ramachandran, Ambady, Ramadan, Otim PC, Ramires, Virgílio V, Ramirez-Zea, Manuel, Ramke, Jacqueline, Ramos, Elisabete, Ramos, Rafel, Rampal, Lekhraj, Rampal, Sanjay, Ramsay, Sheena E, Rangelova, Lalka S, Rarra, Vayia, Rascon-Pacheco, Ramon A, Rashidi, Mohammad-Mahdi, Rech, Cassiano Ricardo, Redon, Josep, Reganit, Paul Ferdinand M, Regecová, Valéria, Renner, Jane DP, Repasy, Judit A, Reuter, Cézane P, Revilla, Luis, Reynolds, Andrew, Rezaei, Negar, Rezaianzadeh, Abbas, Rho, Yeunsook, Ribas-Barba, Lourdes, Ribeiro, Robespierre, Riboli, Elio, Rigo, Fernando, Rigotti, Attilio, Rinaldo, Natascia, Rinke de Wit, Tobias F, Risérus, Ulf, Rito, Ana I, Ritti-Dias, Raphael M, Rivera, Juan A, Roa, Reina G, Robinson, Louise, Roccaldo, Romana, Rodrigues, Daniela, Rodriguez-Perez, María del Cristo, Rodríguez-Villamizar, Laura A, Rodríguez, Andrea Y, Roggenbuck, Ulla, Rohloff, Peter, Rohner, Fabian, Rojas-Martinez, Rosalba, Rojroongwasinkul, Nipa, Romaguera, Dora, Romeo, Elisabetta L, Rosario, Rafaela V, Rosengren, Annika, Rouse, Ian, Rouzier, Vanessa, Roy, Joel GR, Ruano, Maira H, Rubinstein, Adolfo, Rühli, Frank J, Ruidavets, Jean-Bernard, Ruiz-Betancourt, Blanca Sandra, Ruiz-Castell, Maria, Ruiz Moreno, Emma, Rusakova, Iuliia A, Rusek, Wojciech, Russell Jonsson, Kenisha, Russo, Paola, Rust, Petra, Rutkowski, Marcin, Saamel, Marge, Saar, Crizian G, Sabanayagam, Charumathi, Sabbaghi, Hamideh, Sacchini, Elena, Sachdev, Harshpal S, Sadjadi, Alireza, Safarpour, Ali Reza, Safi, Sare, Safiri, Saeid, Saghi, Mohammad Hossien, Saidi, Olfa, Saieva, Calogero, Sakata, Satoko, Saki, Nader, Šalaj, Sanja, Salanave, Benoit, Salazar Martinez, Eduardo, Salhanova, Akkumis, Salmerón, Diego, Salomaa, Veikko, Salonen, Jukka T, Salvetti, Massimo, Samoutian, Margarita, Sánchez-Abanto, Jose, Sánchez Rodríguez, Inés, Sandjaja, Sans, Susana, Santa-Marina, Loreto, Santacruz, Ethel, Santos, Diana A, Santos, Ina S, Santos, Lèlita C, Santos, Maria Paula, Santos, Osvaldo, Santos, Rute, Santos, Tamara R, Saramies, Jouko L, Sardinha, Luis B, Sarrafzadegan, Nizal, Sathish, Thirunavukkarasu, Saum, Kai-Uwe, Savva, Savvas, Savy, Mathilde, Sawada, Norie, Sbaraini, Mariana, Scazufca, Marcia, Schaan, Beatriz D, Schaffrath Rosario, Angelika, Schargrodsky, Herman, Schienkiewitz, Anja, Schindler, Karin, Schipf, Sabine, Schmidt, Börge, Schmidt, Carsten O, Schmidt, Ida Maria, Schneider, Andrea, Schnohr, Peter, Schöttker, Ben, Schramm, Sara, Schramm, Stine, Schröder, Helmut, Schultsz, Constance, Schultz, Gry, Schulze, Matthias B, Schutte, Aletta E, Sebert, Sylvain, Sedaghattalab, Moslem, Selamat, Rusidah, Sember, Vedrana, Sen, Abhijit, Senbanjo, Idowu O, Sepanlou, Sadaf G, Sequera, Guillermo, Serra-Majem, Luis, Servais, Jennifer, Ševčíková, Ľudmila, Sewpaul, Ronel, Shalnova, Svetlana, Shamah-Levy, Teresa, Shamshirgaran, Seyed Morteza, Shanthirani, Coimbatore Subramaniam, Sharafkhah, Maryam, Sharma, Sanjib K, Sharman, Almaz, Shaw, Jonathan E, Shayanrad, Amaneh, Shayesteh, Ali Akbar, Shengelia, Lela, Shi, Zumin, Shibuya, Kenji, Shimizu-Furusawa, Hana, Shimony, Tal, Shiri, Rahman, Shrestha, Namuna, Si-Ramlee, Khairil, Siani, Alfonso, Siantar, Rosalynn, Sibai, Abla M, Sidossis, Labros S, Silitrari, Natalia, Silva, Antonio M, Silva, Caroline Ramos de Moura, Silva, Diego Augusto Santos, Silva, Kelly Samara, Sim, Xueling, Simon, Mary, Simons, Judith, Simons, Leon A, Sjöberg, Agneta, Sjöström, Michael, Skoblina, Elena V, Skoblina, Natalia A, Slazhnyova, Tatyana, Slowikowska-Hilczer, Jolanta, Slusarczyk, Przemysław, Smeeth, Liam, So, Hung-Kwan, Soares, Fernanda Cunha, Sobek, Grzegorz, Sobngwi, Eugène, Sodemann, Morten, Söderberg, Stefan, Soekatri, Moesijanti YE, Soemantri, Agustinus, Sofat, Reecha, Solfrizzi, Vincenzo, Solovieva, Yuliya V, Somi, Mohammad Hossein, Sonestedt, Emily, Song, Yi, Soofi, Sajid, Sørensen, Thorkild IA, Sørgjerd, Elin P, Sossa Jérome, Charles, Soto-Rojas, Victoria E, Soumaré, Aïcha, Sousa-Poza, Alfonso, Sovic, Slavica, Sparboe-Nilsen, Bente, Sparrenberger, Karen, Spencer, Phoebe R, Spinelli, Angela, Spiroski, Igor, Staessen, Jan A, Stamm, Hanspeter, Stang, Andreas, Starc, Gregor, Staub, Kaspar, Stavreski, Bill, Steene-Johannessen, Jostein, Stehle, Peter, Stein, Aryeh D, Steinsbekk, Silje, Stergiou, George S, Stessman, Jochanan, Stevanović, Ranko, Stieber, Jutta, Stöckl, Doris, Stokwiszewski, Jakub, Stoyanova, Ekaterina, Stratton, Gareth, Stronks, Karien, Strufaldi, Maria Wany, Sturua, Lela, Suárez-Medina, Ramón, Suarez-Ortegón, Milton F, Suebsamran, Phalakorn, Sugiyama, Mindy, Suka, Machi, Sulo, Gerhard, Sun, Chien-An, Sun, Liang, Sund, Malin, Sundström, Johan, Sung, Yn-Tz, Sunyer, Jordi, Suriyawongpaisal, Paibul, Sweis, Nabil William G, Swinburn, Boyd A, Sy, Rody G, Sylva, René Charles, Szponar, Lucjan, Tabone, Lorraine, Tai, E Shyong, Takuro, Furusawa, Tambalis, Konstantinos D, Tammesoo, Mari-Liis, Tamosiunas, Abdonas, Tan, Eng Joo, Tang, Xun, Tanrygulyyeva, Maya, Tanser, Frank, Tao, Yong, Tarawneh, Mohammed Rasoul, Tarp, Jakob, Tarqui-Mamani, Carolina B, Taxová Braunerová, Radka, Taylor, Anne, Taylor, Julie, Tchibindat, Félicité, Te Velde, Saskia, Tebar, William R, Tell, Grethe S, Tello, Tania, Tessema, Masresha, Tham, Yih Chung, Thankappan, KR, Theobald, Holger, Theodoridis, Xenophon, Thomas, Nihal, Thorand, Barbara, Thrift, Amanda G, Tichá, Ľubica, Timmermans, Erik J, Tjandrarini, Dwi Hapsari, Tjonneland, Anne, Tolonen, Hanna K, Tolstrup, Janne S, Tomaszewski, Maciej, Topbas, Murat, Topór-Mądry, Roman, Torheim, Liv Elin, Tornaritis, Michael J, Torrent, Maties, Torres-Collado, Laura, Toselli, Stefania, Touloumi, Giota, Traissac, Pierre, Tran, Thi Tuyet-Hanh, Tremblay, Mark S, Triantafyllou, Areti, Trichopoulos, Dimitrios, Trichopoulou, Antonia, Trinh, Oanh TH, Trivedi, Atul, Tshepo, Lechaba, Tsigga, Maria, Tsintavis, Panagiotis, Tsugane, Shoichiro, Tuitele, John, Tuliakova, Azaliia M, Tulloch-Reid, Marshall K, Tullu, Fikru, Tuomainen, Tomi-Pekka, Tuomilehto, Jaakko, Twig, Gilad, Tynelius, Per, Tzala, Evangelia, Tzotzas, Themistoklis, Tzourio, Christophe, Udoji, Nwannedimma, Ueda, Peter, Ugel, Eunice, Ukoli, Flora AM, Ulmer, Hanno, Unal, Belgin, Usupova, Zhamyila, Uusitalo, Hannu MT, Uysal, Nalan, Vaitkeviciute, Justina, Valdivia, Gonzalo, Vale, Susana, Valvi, Damaskini, van Dam, Rob M, van den Born, Bert-Jan, Van der Heyden, Johan, van der Schouw, Yvonne T, Van Herck, Koen, Van Lippevelde, Wendy, Van Minh, Hoang, Van Schoor, Natasja M, van Valkengoed, Irene GM, Vanderschueren, Dirk, Vanuzzo, Diego, Varbo, Anette, Varela-Moreiras, Gregorio, Vargas, Luz Nayibe, Varona-Pérez, Patricia, Vasan, Senthil K, Vasques, Daniel G, Vatasescu, Radu, Vega, Tomas, Veidebaum, Toomas, Velasquez-Melendez, Gustavo, Velika, Biruta, Verloigne, Maïté, Veronesi, Giovanni, Verschuren, WM Monique, Victora, Cesar G, Viegi, Giovanni, Viet, Lucie, Vik, Frøydis N, Vilar, Monica, Villalpando, Salvador, Vioque, Jesus, Viriyautsahakul, Napaphan, Virtanen, Jyrki K, Visser, Marjolein, Visvikis-Siest, Sophie, Viswanathan, Bharathi, Vladulescu, Mihaela, Vlasoff, Tiina, Vocanec, Dorja, Vollenweider, Peter, Völzke, Henry, Vourli, Georgia, Voutilainen, Ari, Vrijheid, Martine, Vrijkotte, Tanja GM, Vuletić, Silvije, Wade, Alisha N, Waldhör, Thomas, Walton, Janette, Wambiya, Elvis OA, Wan Bebakar, Wan Mohamad, Wan Mohamud, Wan Nazaimoon, Wanderley Júnior, Rildo de Souza, Wang, Chongjian, Wang, Huijun, Wang, Ming-Dong, Wang, Ningli, Wang, Qian, Wang, Xiangjun, Wang, Ya Xing, Wang, Ying-Wei, Wannamethee, S Goya, Wareham, Nicholas, Wartha, Olivia, Weber, Adelheid, Wedderkopp, Niels, Weghuber, Daniel, Wei, Wenbin, Weres, Aneta, Werner, Bo, Westbury, Leo D, Whincup, Peter H, Wichstrøm, Lars, Wickramasinghe, Kremlin, Widhalm, Kurt, Widyahening, Indah S, Więcek, Andrzej, Wild, Philipp S, Wilks, Rainford J, Willeit, Johann, Willeit, Peter, Williams, Julianne, Wilsgaard, Tom, Wirth, James P, Wojtyniak, Bogdan, Woldeyohannes, Meseret, Wolf, Kathrin, Wong-McClure, Roy A, Wong, Andrew, Wong, Emily B, Wong, Jyh Eiin, Wong, Tien Yin, Woo, Jean, Woodward, Mark, Wu, Frederick C, Wu, Hon-Yen, Wu, Jianfeng, Wu, Li Juan, Wu, Shouling, Wyszyńska, Justyna, Xu, Haiquan, Xu, Liang, Yaacob, Nor Azwany, Yamborisut, Uruwan, Yan, Li, Yan, Weili, Yang, Ling, Yang, Xiaoguang, Yang, Yang, Yardim, Nazan, Yasuharu, Tabara, Yépez García, Martha, Yiallouros, Panayiotis K, Yngve, Agneta, Yoosefi, Moein, Yoshihara, Akihiro, Yotov, Yoto, You, Qi Sheng, You, San-Lin, Younger-Coleman, Novie O, Yu, Yu-Ling, Yu, Yunjiang, Yusof, Safiah Md, Yusoff, Ahmad Faudzi, Zaccagni, Luciana, Zafiropulos, Vassilis, Zainuddin, Ahmad A, Zakavi, Seyed Rasoul, Zamani, Farhad, Zambon, Sabina, Zampelas, Antonis, Zamrazilová, Hana, Zapata, Maria Elisa, Zargar, Abdul Hamid, Zaw, Ko Ko, Zayed, Ayman A, Zdrojewski, Tomasz, Żegleń, Magdalena, Zejglicova, Kristyna, Zeljkovic Vrkic, Tajana, Zeng, Yi, Zentai, Andrea, Zhang, Bing, Zhang, Luxia, Zhang, Zhen-Yu, Zhao, Dong, Zhao, Ming-Hui, Zhao, Wenhua, Zhecheva, Yanitsa V, Zhen, Shiqi, Zheng, Wei, Zheng, Yingfeng, Zholdin, Bekbolat, Zhou, Maigeng, Zhu, Dan, Zimmet, Paul, Zins, Marie, Zitt, Emanuel, Zocalo, Yanina, Zoghlami, Nada, Zuñiga Cisneros, Julio, Zuziak, Monika, and Ezzati, Majid

Published
2024
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26. Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy—a Delphi consensus

Author

Scarpa, Maurizio, Barbato, Antonio, Bisconti, Annalisa, Burlina, Alberto, Concolino, Daniela, Deodato, Federica, Di Rocco, Maja, Dionisi-Vici, Carlo, Donati, Maria Alice, Fecarotta, Simona, Fiumara, Agata, Galeone, Carlotta, Giona, Fiorina, Giuffrida, Gaetano, Manna, Raffaele, Mariani, Paolo, Pession, Andrea, Scopinaro, Annalisa, Spada, Marco, Spandonaro, Federico, Trifirò, Gianluca, Carubbi, Francesca, and Cappellini, Maria Domenica

Published
2023
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27. Gut barrier defects, intestinal immune hyperactivation and enhanced lipid catabolism drive lethality in NGLY1-deficient Drosophila

Author

Ashutosh Pandey, Antonio Galeone, Seung Yeop Han, Benjamin A. Story, Gaia Consonni, William F. Mueller, Lars M. Steinmetz, Thomas Vaccari, and Hamed Jafar-Nejad

Subjects
Science
Abstract

Abstract Intestinal barrier dysfunction leads to inflammation and associated metabolic changes. However, the relative impact of gut bacteria versus non-bacterial insults on animal health in the context of barrier dysfunction is not well understood. Here, we establish that loss of Drosophila N-glycanase 1 (Pngl) in a specific intestinal cell type leads to gut barrier defects, causing starvation and JNK overactivation. These abnormalities, along with loss of Pngl in enterocytes and fat body, result in Foxo overactivation, leading to hyperactive innate immune response and lipid catabolism and thereby contributing to lethality. Germ-free rearing of Pngl mutants rescued their developmental delay but not lethality. However, raising Pngl mutants on isocaloric, fat-rich diets partially rescued lethality. Our data indicate that Pngl functions in Drosophila larvae to establish the gut barrier, and that the lethality caused by loss of Pngl is primarily mediated through non-bacterial induction of immune and metabolic abnormalities.

Published
2023
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28. Public health genomics research in Italy: an overview of ongoing projects

Author

Erica Pitini, Valentina Baccolini, Claudia Isonne, Paola Maran, Carolina Marzuillo, Paolo Villari, Daniela Galeone, and Francesco Vaia

Subjects
public health genomics, research, precision medicine, precision public health, governance, Italy, Public aspects of medicine, RA1-1270
Abstract

Public health genomics (PHG) aims to integrate advances in genomic sciences into healthcare for the benefit of the general population. As in many countries, there are various research initiatives in this field in Italy, but a clear picture of the national research portfolio has never been sketched. Thus, we aimed to provide an overview of current PHG research projects at the national or international level by consultation with Italian institutional and academic experts. We included 68 PHG projects: the majority were international projects in which Italian researchers participated (n = 43), mainly funded by the European Commission, while the remainder were national initiatives (N = 25), mainly funded by central government. Funding varied considerably, from € 50,000 to € 80,803,177. Three main research themes were identified: governance (N = 20); precision medicine (PM; N = 46); and precision public health (N = 2). We found that research activities are preferentially aimed at the clinical application of PM, while other efforts deal with the governance of the complex translation of genomic innovation into clinical and public health practice. To align such activities with national and international priorities, the development of an updated research agenda for PHG is needed.

Published
2024
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33. Ten-Year Experience with a Transapical Approach for Transcatheter Aortic and Mitral Valve Implantation

Author

Antonella Galeone, Fabiola Perrone, Gabriele Pesarini, Flavio Luciano Ribichini, Renato Di Gaetano, Giovanni Battista Luciani, and Francesco Onorati

Subjects
transcatheter aortic valve implantation, transapical access, valve-in-valve, Diseases of the circulatory (Cardiovascular) system, RC666-701
Abstract

Background: The transfemoral approach represents the optimal access for TAVI due to its low invasiveness; however, up to 10–15% of TAVI candidates are considered unsuitable for femoral access because of significant peripheral vascular disease and need alternative access. Methods: This is a single-center retrospective observational study including all consecutive adult patients undergoing transcatheter procedures through a TA approach from March 2015 to April 2024. Results: 213 patients underwent transcatheter aortic or mitral valve implantation through a TA approach and were enrolled in this study. The mean age of the patients was 79.5 ± 5.7 years, and 54% of the patients were males. The mean Euroscore II was 7.9 ± 6.4%. One-third of the patients had previous cardiac surgery. The overall mean survival time was 5.3 ± 0.3 years. Nine (4%) patients developed infective endocarditis (IE) during the follow-up. Conclusions: The transapical approach for transcatheter procedures is a safe and effective procedure for patients unsuitable for TF access with low periprocedural mortality and a low rate of post-procedural complications when performed by experienced surgeons and cardiologists.

Published
2024
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34. Ten-Year Experience with Endomyocardial Biopsy after Orthotopic Heart Transplantation: Comparison between Trans-Jugular and Trans-Femoral Approach

Author

Antonella Galeone, Annalisa Bernabei, Gabriele Pesarini, Marcello Raimondi Lucchetti, Francesco Onorati, and Giovanni Battista Luciani

Subjects
endomyocardial biopsy, heart transplantation, jugular vein, Diseases of the circulatory (Cardiovascular) system, RC666-701
Abstract

Background: Endomyocardial biopsy (EMB) is considered the gold standard for monitoring allograft rejection after heart transplantation. EMB is an invasive procedure that may be performed via a trans-jugular or a trans-femoral approach with a complication rate reported as less than 6%. The aim of this study was to evaluate the complication rate after EMBs in heart recipients and to compare the results of EMBs performed via a trans-jugular or a trans-femoral approach. Methods: Medical records of heart recipients undergoing EMBs between January 2012 and December 2022 were retrospectively reviewed. EMB-related complications were classified as major (death, pericardial effusion, hemopericardium, cardiac tamponade requiring a pericardiocentesis or an urgent cardiac surgery, ventricular arrythmias, permanent atrio-ventricular block requiring permanent pacing, hemothorax, pneumothorax and retroperitoneal bleeding) and minor (de novo tricuspid regurgitation, arrhythmias, coronary artery fistula, vascular access site complications). Results: A total of 1698 EMBs were performed during the study period at our institution in 212 heart recipients. There were 927 (55%) EMBs performed through a trans-jugular approach (TJ group) and 771 (45%) EMBs performed through a trans-femoral approach (TF group). A total of 60 (3.5%) complications were recorded, including nine (0.5%) major complications (six cardiac tamponades, two pneumothorax and one retroperitoneal bleeding) and 51 (3%) minor complications (seven coronary fistulae, five de novo tricuspid regurgitation, four supraventricular arrythmias and thirty-five vascular access site complications). No difference was found in total (38 [4%] vs. 22 [3%]; p = 0.16) and major (6 [1%} vs. 3 [0.4%]; p = 0.65) complications (32 [3%] vs. 19 [2%]; p = 0.23) between the TJ group and the TF group. No difference was found in male sex, age at time of EMB and time from HT between complicated and not complicated EMBs. Conclusions: EMBs represent a safe procedure with a low risk of complications. In our experience, EMBs performed via a trans-jugular approach are as safe as the trans-femoral approach.

Published
2024
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35. SUSTAINABILITY REPORTING: EVIDENCE FROM GLOBAL SYSTEMICALLY IMPORTANT BANKS (G-SIBs)

Author

GRAZIANA GALEONE, SIMONA RANALDO, MATILDA SHINI, and GRAZIA DICUONZO

Subjects
Non-financial disclosure, framework, standard, financial sector, G-SIBs, Finance, HG1-9999
Abstract

In recent years, the issue of environmental pollution and climate change has led the scientific debate to focus on social issues, environmental protection, and human rights, deepening the topic of sustainable economic development. To provide stakeholders evidence on economic, environmental, and social performance, all corporate organizations must supplement traditional financial reporting tools with Non-financial information, following numerous standards, frameworks, and guidelines. The topic of Non-financial disclosure is widely investigated with reference to industrial companies, while the financial institution sector represents a context that is still little explored. Indeed, financial institutions are significant promoters of Corporate Social Responsibility (CSR), and even if their operations do not have direct impacts on the environment, they can encourage the allocation of their capital in socially responsible investments, thus contributing to the spread of sustainability culture in the financial system and among citizens. This paper analyzes the main sustainability frameworks, standards, and guidelines used by global systemically important banks (G-SIBs) for disclosure on environmental aspects along with social and governance factors, investigating the attention degree of financial institutions toward the sustainability issue.

Published
2023
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36. GREEN FINANCE: PAST, PRESENT AND FUTURE STUDIES

Author

MATTEO PALMACCIO, GRAZIANA GALEONE, MATILDA SHINI, and FRANCESCO CAMPOBASSO

Subjects
Green finance, SLR, CSR, Finance, HG1-9999
Abstract

The research consists of a systematic literature review (SLR) emphasizing scholars’ views on the topic of green finance. Seeking to provide a deep understanding of the state of the art, the paper aims to draft implications and insights to address future research. Studies on green finance are investigated using the Scopus database as a source to get access to the dataset. The methodological approach is inspired by Kraus et al. (2020) in order “to identify, choose and critically appraise relevant pieces of research, and to generate collective insights of knowledge from past research” (Loureiro et al. 2019).

Published
2023
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37. Study protocol of a clinical randomized controlled trial on the efficacy of an innovative Digital thErapy to proMote wEighT loss in patients with obesity by incReasing their Adherence to treatment: the DEMETRA study

Author

Gianluca Castelnuovo, Paolo Capodaglio, Ramona De Amicis, Luisa Gilardini, Sara Paola Mambrini, Giada Pietrabissa, Luca Cavaggioni, Giuseppina Piazzolla, Carlotta Galeone, Giacomo Garavaglia, Simona Bertoli, the DEMETRA Study Group, Amalia Bruno, Antonina Orlando, Alessio Genovese, Federica Sileo, Marta Pellizzari, Marina Croci, and Silvia Martinelli

Subjects
obesity, digital therapy, weight loss, diet, physical activity, cognitive–behaviour therapy, Medicine, Public aspects of medicine, RA1-1270, Electronic computers. Computer science, QA75.5-76.95
Abstract

Despite the increasing importance of innovative medications and bariatric surgery for the treatment of obesity, lifestyle interventions (diet and physical activity) remain the first-line therapy for this disease. The use of digital devices in healthcare aims to respond to the patient's needs, in order to make obesity treatment more accessible, so our study aims to assess the safety and efficacy of a Digital Therapy for Obesity App (DTxO) for achieving weight loss and its maintenance in patients affected with obesity undergoing an experimental non-pharmacological treatment. Here we present the study protocol of a prospective, multicenter, pragmatic, randomized, double-arm, placebo-controlled, parallel, single-blind study on obese patients who will be treated with a new digital therapy to obtain an improvement in their disease condition through the application of different simultaneous strategies (a dietary regimen and personalized advice program, a tailored physical exercise program, a cognitive–behavioural assessment and program, alerts and reminders, dedicated section on prescribed drugs intake, and chat and online visits with clinical professionals). We believe that DTxO will offer a promising intervention channel and self-regulation tool holding the potentiality to decrease treatment burden and treat more patients thanks to the partial replacement of traditional medical consultation with digital or telephone management, improving self- engagement and reducing the high demands the “obesity pandemic” for both patients and national health services in terms of time, cost, and effort. Clinical trial registration: clinicaltrials.gov, identifier, NCT05394779.

Published
2023
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38. Time to market access in Italy: duration of the P&R process for rare disease drugs

Author

Andrea Marcellusi, Paola Raimondo, Carlotta Galeone, and Pier Luigi Canonico

Subjects
AIFA, CPR, CTS, Rare diseases, Negotiation times, Medical technology, R855-855.5
Abstract

Objective: This paper aims to investigate the duration of the pricing & reimbursement (P&R) procedures submitted in Italy by pharmaceutical marketing authorization holders (MAH) for drugs indicated for rare diseases. Methods: All the data used in this analysis were publicly available on different sources of the Italian Ministry of Health, the Italian Medicines Agency (AIFA) and other official websites. The information was systematically collected to investigate the timeline (days) needed to complete the P&R process. The process was divided into 6 simplified steps and the median and range of days needed for each phase were estimated based on data reported in official/published documents. The analysis was stratified considering every single step of the assessment phase and included segmentation of drugs into indications for rare diseases, Orphan designation, Innovation assessment and Managed entry agreements (MEAs). Results: Overall, 181 first indication procedures were submitted to AIFA in the period considered and, of these, 167 (92.3%) were completed and 129 procedures were considered for the final analysis and the median duration of the entire process (MAH submission to final Gazette publication) was 434 days (range 176.0-918.0). The duration of procedures for rare diseases (n = 53) was longer than those for non-rare-disease procedures (n = 76) (463.0 days vs 407.5 days respectively). Among rare disease procedures, orphan designation and MEAs represent predictors for time prolongation while innovation is associated with a shorter assessment time. Conclusion: The study describes the time spent in each phase of the assessment and the appraisal process and demonstrates that uncertainty represents the main driver for the increment in the overall time.

Published
2023
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39. Learning to Grasp from 2.5D images: a Deep Reinforcement Learning Approach

Author

Bertugli, Alessia and Galeone, Paolo

Subjects
Computer Science - Robotics, Computer Science - Machine Learning, Statistics - Machine Learning
Abstract

In this paper, we propose a deep reinforcement learning (DRL) solution to the grasping problem using 2.5D images as the only source of information. In particular, we developed a simulated environment where a robot equipped with a vacuum gripper has the aim of reaching blocks with planar surfaces. These blocks can have different dimensions, shapes, position and orientation. Unity 3D allowed us to simulate a real-world setup, where a depth camera is placed in a fixed position and the stream of images is used by our policy network to learn how to solve the task. We explored different DRL algorithms and problem configurations. The experiments demonstrated the effectiveness of the proposed DRL algorithm applied to grasp tasks guided by visual depth camera inputs. When using the proper policy, the proposed method estimates a robot tool configuration that reaches the object surface with negligible position and orientation errors. This is, to the best of our knowledge, the first successful attempt of using 2.5D images only as of the input of a DRL algorithm, to solve the grasping problem regressing 3D world coordinates.

Published
2019

40. A Survey on GANs for Anomaly Detection

Author

Di Mattia, Federico, Galeone, Paolo, De Simoni, Michele, and Ghelfi, Emanuele

Subjects
Computer Science - Machine Learning, Statistics - Machine Learning
Abstract

Anomaly detection is a significant problem faced in several research areas. Detecting and correctly classifying something unseen as anomalous is a challenging problem that has been tackled in many different manners over the years. Generative Adversarial Networks (GANs) and the adversarial training process have been recently employed to face this task yielding remarkable results. In this paper we survey the principal GAN-based anomaly detection methods, highlighting their pros and cons. Our contributions are the empirical validation of the main GAN models for anomaly detection, the increase of the experimental results on different datasets and the public release of a complete Open Source toolbox for Anomaly Detection using GANs.

Published
2019

41. Adversarial Pixel-Level Generation of Semantic Images

Author

Ghelfi, Emanuele, Galeone, Paolo, De Simoni, Michele, and Di Mattia, Federico

Subjects
Computer Science - Computer Vision and Pattern Recognition, Computer Science - Machine Learning, Electrical Engineering and Systems Science - Image and Video Processing, Statistics - Machine Learning
Abstract

Generative Adversarial Networks (GANs) have obtained extraordinary success in the generation of realistic images, a domain where a lower pixel-level accuracy is acceptable. We study the problem, not yet tackled in the literature, of generating semantic images starting from a prior distribution. Intuitively this problem can be approached using standard methods and architectures. However, a better-suited approach is needed to avoid generating blurry, hallucinated and thus unusable images since tasks like semantic segmentation require pixel-level exactness. In this work, we present a novel architecture for learning to generate pixel-level accurate semantic images, namely Semantic Generative Adversarial Networks (SemGANs). The experimental evaluation shows that our architecture outperforms standard ones from both a quantitative and a qualitative point of view in many semantic image generation tasks.

Published
2019

42. Unveiling the patient experience: a Delphi method based questionnaire for evaluating the quality of life in adults with Epidermolysis Bullosa

Author

Benedan, L, Galeone, C, Zenga, M, Galeone, C., Zenga, M., Benedan, L, Galeone, C, Zenga, M, Galeone, C., and Zenga, M.

Abstract

Epidermolysis Bullosa (EB) is a rare disease that significantly impacts the Quality of Life (QoL) of both patients and their caregivers, often imposing an overwhelming burden. This study aimed to delve into the patients' lived experiences, capture their perspectives, and discern their needs to construct a comprehensive QoL questionnaire. The Delphi method was selected as the optimal approach for this endeavor, integrating group discussions with individual, anonymous data collection sessions. Qualitative analysis of spontaneously generated statements culminated in the iterative refinement of the questionnaire through multiple Delphi rounds. The final question-naire aims to become a valuable resource to evaluate EB patients' QoL and to facilitate ongoing monitoring of patients' progress and eventually assess treatments’ efficacy over time.

Published
2024

43. Evolutionary Trends of Intangibles Disclosure Within Non-financial Reporting

Author

Badia, Francesco, Dicuonzo, Grazia, Galeone, Graziana, Dell’Atti, Vittorio, Marasca, Stefano, Series Editor, Fellegara, Anna Maria, Series Editor, Mussari, Riccardo, Series Editor, Adamo, Stefano, Editorial Board Member, Bartocci, Luca, Editorial Board Member, Caldarelli, Adele, Editorial Board Member, Campedelli, Bettina, Editorial Board Member, Castellano, Nicola, Editorial Board Member, Cepiku, Denita, Editorial Board Member, Cinquini, Lino, Editorial Board Member, Chiucchi, Maria Serena, Editorial Board Member, Dell'Atti, Vittorio, Editorial Board Member, De Luca, Francesco, Editorial Board Member, Fiorentino, Raffaele, Editorial Board Member, Giunta, Francesco, Editorial Board Member, Incollingo, Alberto, Editorial Board Member, Liberatore, Giovanni, Editorial Board Member, Lionzo, Andrea, Editorial Board Member, Lombardi, Rosa, Editorial Board Member, Maggi, Davide, Editorial Board Member, Mancini, Daniela, Editorial Board Member, Rossi, Francesca Manes, Editorial Board Member, Marchi, Luciano, Editorial Board Member, Mattei, Marco Maria, Editorial Board Member, Paolini, Antonella, Editorial Board Member, Paoloni, Mauro, Editorial Board Member, Paoloni, Paola, Editorial Board Member, Ruisi, Marcantonio, Editorial Board Member, Teodori, Claudio, Editorial Board Member, Terzani, Simone, Editorial Board Member, and veltri, stefania, Editorial Board Member

Published
2022
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45. Adherence to European Association of Urology Guidelines and State of the Art of Glycosaminoglycan Therapy for the Management of Urinary Tract Infections: A Narrative Review and Expert Meeting Report

Author

Gernot Bonkat, Tommaso Cai, Carlotta Galeone, Bela Koves, and Franck Bruyere

Subjects
Alternative therapies, European Association of Urology guidelines, Urinary tract infections, Survey, Glycosaminoglycans, Diseases of the genitourinary system. Urology, RC870-923, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract

Context: Urinary tract infections (UTIs) have a significant impact on patient’s quality of life and society. Antibiotic therapy is the primary approach for the management of UTIs; however, it has major limits in the prevention of recurrent UTIs (rUTIs), also increasing the risk of development of multidrug-resistant micro-organisms. Objective: The aim of this paper is to discuss the European Association of Urology guidelines for the management of UTIs/rUTIs, the level of adherence to these recommendations, and the available evidence on the use of glycosaminoglycans (GAGs) as a possible alternative treatment to prevent rUTIs. Evidence acquisition: This narrative review and expert meeting report is based on a literature search concerning the currently available UTI guidelines, the results of a survey administered to 227 urologists, and the opinion of an expert panel in the field of UTIs. Evidence synthesis: Results obtained from the literature search showed that adherence to guidelines is not optimal. The survey demonstrated that antibiotics remain one of the treatments of UTIs. However, most of the urologists are aware of the problem caused by the resistance to antibiotics and prefer alternative methods for the prophylaxis of UTIs. Considering the alternative methods, the authors concluded that GAG therapy is highly effective in preventing rUTIs. Conclusions: Adherence to the international guidelines is important to align the clinical practice and avoid the spreading of antibiotic resistance. The survey outlines that the misuse and overuse of antibiotics are major problems; an analysis of clinical evidence confirms that GAG therapy is a valuable therapeutic approach to prevent the recurrence of episodes of UTIs and to limit the onset of antibiotic resistance. Patient summary: Although antibiotic therapy is primarily used for the management of urinary tract infections (UTIs), misuse and overuse of antibiotics are of concern. Adherence to the international guidelines is important to prevent the spreading of antibiotic resistance. Clinical evidence confirms that the use of glycosaminoglycans is a valuable therapeutic approach to prevent UTI recurrence and limit the onset of antibiotic resistance.

Published
2022
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46. Physiological responses of apricot and peach cultivars under progressive water shortage: Different crop signals for anisohydric and isohydric behaviours

Author

Pasquale Losciale, Liliana Gaeta, Mariadomenica Corsi, Ciro Galeone, Luigi Tarricone, Rita Leogrande, and Anna Maria Stellacci

Subjects
Soil-Plant-Atmosphere Continuum, Chlorophyl fluorescence, Leaf temperature, VPD, Smart irrigation, Precision agriculture, Agriculture (General), S1-972, Agricultural industries, HD9000-9495
Abstract

The knowledge about the behaviour of different fruit tree species when subjected to water shortage is pivotal to pair correctly the species with the environment, as well as to choose the most reliable index for monitoring the plant water status. Net photosynthesis (Pn) and stomatal conductance (gs) are considered some of the most reliable variables describing the plant water status, functionality and potential productivity, but their measurement are actually time consuming, complex and expensive. The aims of the present study were to investigate the effect of a progressive water stress on leaf functioning and plant water status of two stone fruit trees species; to study the water relations within the Soil-Plant-Atmosphere Continuum; to assess a pool of indices for estimating Pn and gs by means of other variables quick to be measured, potentially through less expensive and user-friendly sensors. The trial was carried out on an early ripening apricot variety (Prunus armeniaca L. cv. Primius) and on a late ripening peach variety (Prunus persica (L.) Batsch cv. Calred) subjected to progressive dry down. Trees were monitored for stem water potential, leaf temperature, chlorophyl fluorescence, Pn and gs. “Primius” and “Calred” behaved as near anisohydric and near-isohydric plants, respectively. In “Primius” Pn and gs were more affected by soil water content than vapour pressure deficit (VPD) and the opposite occurred in “Calred”, suggesting a different approach to be used for managing water in the two cultivars. Chlorophyll fluorescence variables and leaf to air temperature difference (ΔT), combined properly by means of stepwise multiple regression analysis approach, were selected as good predictors of Pn for both the species. ΔT and VPD were selected to estimate gs, using the same approach. The prediction performance of the models resulted good suggesting their possible use for driving irrigation in a more sustainable and plant-based way.

Published
2023
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48. Two-channel combination methods for count-loss correction in radiation measurements at high rates and with pulsed sources

Author

Mohammadian-Behbahani, Mohammad-Reza, Monaco, Vincenzo, Abujami, Mohammed, Bersani, Davide, Data, Emanuele Maria, Galeone, Cosimo, Giordanengo, Simona, Hammad Ali, Omar, Martì Villarreal, Oscar Ariel, Mas Milian, Felix, Montalván-Olivares, Diango M., Richetta, Elisa, Staiano, Amedeo, Stasi, Michele, Vignati, Anna, Cirio, Roberto, and Sacchi, Roberto

Published
2022
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49. Sociality predicts orangutan vocal phenotype

Author

Lameira, Adriano R., Santamaría-Bonfil, Guillermo, Galeone, Deborah, Gamba, Marco, Hardus, Madeleine E., Knott, Cheryl D., Morrogh-Bernard, Helen, Nowak, Matthew G., Campbell-Smith, Gail, and Wich, Serge A.

Published
2022
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50. Bronchial thermoplasty in severe asthma: a real-world study on efficacy and gene profiling

Author

Nicola Facciolongo, Martina Bonacini, Carla Galeone, Patrizia Ruggiero, Francesco Menzella, Giulia Ghidoni, Roberto Piro, Chiara Scelfo, Chiara Catellani, Alessandro Zerbini, and Stefania Croci

Subjects
Bronchial thermoplasty, Severe asthma, Gene expression, Real-time PCR, Smooth muscle, Bronchial biopsies, Immunologic diseases. Allergy, RC581-607
Abstract

Abstract Background Bronchial thermoplasty (BT) is an effective treatment in severe asthma. How to select patients who more likely benefit from BT is an unmet clinical need. Moreover, mechanisms of BT efficacy are still largely unknown. We sought to determine BT efficacy and to identify potential mechanisms of response. Methods This retrospective cohort study evaluated clinical outcomes in 27 patients with severe asthma: 13 with T2-high and 14 with T2-low endotype. Expression levels of 20 genes were compared by real-time PCR in bronchial biopsies performed at the third BT session versus baseline. Clinical response was measured based on Asthma Control Questionnaire (ACQ) score

Published
2022
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