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1,026 results on '"TESTA, Francesco"'

1. Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations

Author

Dollfus, Hélène, Lilien, Marc R., Maffei, Pietro, Verloes, Alain, Muller, Jean, Bacci, Giacomo M., Cetiner, Metin, van den Akker, Erica L. T., Grudzinska Pechhacker, Monika, Testa, Francesco, Lacombe, Didier, Stokman, Marijn F., Simonelli, Francesca, Gouronc, Aurélie, Gavard, Amélie, van Haelst, Mieke M., Koenig, Jens, Rossignol, Sylvie, Bergmann, Carsten, Zacchia, Miriam, Leroy, Bart P., Mosbah, Héléna, Van Eerde, Albertien M., Mekahli, Djalila, Servais, Aude, Poitou, Christine, and Valverde, Diana

Published
2024
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8. High-speed Source-Device-Independent Quantum Random Number Generator on a Chip

Author

Bertapelle, Tommaso, Avesani, Marco, Santamato, Alberto, Montanaro, Alberto, Chiesa, Marco, Rotta, Davide, Artiglia, Massimo, Sorianello, Vito, Testa, Francesco, De Angelis, Gabriele, Contestabile, Giampiero, Vallone, Giuseppe, Romagnoli, Marco, and Villoresi, Paolo

Subjects
Quantum Physics
Abstract

A wide range of applications require, by hypothesis, to have access to a high-speed, private, and genuine random source. Quantum Random Number Generators (QRNGs) are currently the sole technology capable of producing true randomness. However, the bulkiness of current implementations significantly limits their adoption. In this work, we present a high-performance source-device independent QRNG leveraging a custom made integrated photonic chip. The proposed scheme exploits the properties of a heterodyne receiver to enhance security and integration to promote spatial footprint reduction while simplifying its implementation. This characteristics could represents a significant advancement toward the development of generators better suited to meet the demands of portable and space applications. The system can deliver secure random numbers at a rate greater than 20 Gbps with a reduced spatial and power footprint., Comment: 8 pages, 7 figures

Published
2023

11. Rare Eye Diseases Automatic Classification: A Deep Learning Approach

Author

Vitale, Jacopo, Pagnano, Maria E., Matarrese, Margherita A. G., Boccia, Rosa, Melillo, Paolo, Testa, Francesco, Simonelli, Francesca, Pecchia, Leandro, Magjarević, Ratko, Series Editor, Ładyżyński, Piotr, Associate Editor, Ibrahim, Fatimah, Associate Editor, Lackovic, Igor, Associate Editor, Rock, Emilio Sacristan, Associate Editor, Jarm, Tomaž, editor, Šmerc, Rok, editor, and Mahnič-Kalamiza, Samo, editor

Published
2024
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17. A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice

Author

Murro, Vittoria, Banfi, Sandro, Testa, Francesco, Iarossi, Giancarlo, Falsini, Benedetto, Sodi, Andrea, Signorini, Sabrina, Iolascon, Achille, Russo, Roberta, Mucciolo, Dario Pasquale, Caputo, Roberto, Bacci, Giacomo Maria, Bargiacchi, Sara, Turco, Simona, Fortini, Stefania, and Simonelli, Francesca

Published
2023
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20. Do Consumers Understand What Different Green Claims Actually Mean? An Experimental Approach in Italy.

Author

Iovino, Roberta, Testa, Francesco, and Iraldo, Fabio

Subjects
ENVIRONMENTAL literacy, CONSUMERS, CONSUMER behavior, STRUCTURAL equation modeling, PERCEPTION (Philosophy)
Abstract

This article extends the literature on consumers' responses to green claims and their intentions to buy green products. We used an experimental approach based on three complementary studies. The first compares the effects of two claims regarding different levels of a company's environmental commitment. The second examines whether consumers can recognize exaggerated claims. The third analyzes consumers' perceptions of a company's environmental commitment and intentions to buy the advertised product when an institutional methodology is used to substantiate the message. Surveys were administered online in January 2020 to samples of the Italian population aged 18 to 75. The results suggest that consumers positively perceive the commitment that lies behind all the conditions tested, strongly influencing intentions to buy. However, consumers have either little or no understanding of differences among green claims and are also easily deceived by exaggerated claims (such as "zero impact"). Using multigroup structural equation modeling (SEM), we highlight the important role of education. Consumers with a higher level of education are more receptive to claims that imply a higher commitment and appreciate the presence of an institutional methodology as a credibility signal. However, even highly educated consumers are likely to be deceived by exaggerated claims. [ABSTRACT FROM AUTHOR]

Published
2024
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24. Efficacy, pharmacokinetics, and safety in the mouse and primate retina of dual AAV vectors for Usher syndrome type 1B

Author

Ferla, Rita, Dell’Aquila, Fabio, Doria, Monica, Ferraiuolo, Maria, Noto, Alessia, Grazioli, Fabiana, Ammendola, Virginia, Testa, Francesco, Melillo, Paolo, Iodice, Carolina, Risca, Giulia, Tedesco, Novella, le Brun, Pierre Romain, Surace, Enrico Maria, Simonelli, Francesca, Galimberti, Stefania, Valsecchi, Maria Grazia, Marteau, Jean-Brice, Veron, Philippe, Colloca, Stefano, and Auricchio, Alberto

Published
2023
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28. Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy

Author

Karali, Marianthi, Testa, Francesco, Di Iorio, Valentina, Torella, Annalaura, Zeuli, Roberta, Scarpato, Margherita, Romano, Francesca, Onore, Maria Elena, Pizzo, Mariateresa, Melillo, Paolo, Brunetti-Pierri, Raffaella, Passerini, Ilaria, Pelo, Elisabetta, Cremers, Frans P. M., Esposito, Gabriella, Nigro, Vincenzo, Simonelli, Francesca, and Banfi, Sandro

Published
2022
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29. Exploring circular consumption: Circular attitudes and their influence on consumer behavior across the product lifecycle.

Author

Testa, Francesco, Marullo, Cristina, Gusmerotti, Natalia Marzia, and di Iorio, Vinicio

Abstract

This study explores the dynamic and multidimensional domain of circular consumption, emphasizing the relevance of a lifecycle perspective in understanding consumer behaviors within the circular economy. Moving beyond prior research that predominantly focused on specific actions such as recycling or purchasing second‐hand products, we advocate for a more comprehensive understanding of consumer choices throughout a product's lifecycle. Drawing on attitudes theory, we employ item response theory (IRT) models to unveil latent attitudes reflecting diverse circular consumer behaviors. These attitudes, inferred from manifested actions across different product lifecycle stages, include environmental‐centric, resource‐centric, and societal‐centric circular attitudes. The study involves a representative sample of 5,124 respondents across five European countries. Our findings underscore the complexity of consumer motivations in the circular economy, revealing distinct links between circular attitudes and behaviors. This research contributes to a nuanced understanding of circular consumption, emphasizing the importance of a lifecycle approach, and driving the development of robust measurement scales for circular consumer actions. [ABSTRACT FROM AUTHOR]

Published
2024
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34. Contributors

Author

Aleman, Tomas S., primary, Amati-Bonneau, Patrizia, additional, Arveiler, Benoît, additional, Ashworth, Jane L., additional, Audo, Isabelle, additional, Bacci, Giacomo M., additional, Balducci, Nicole, additional, Balikova, Irina, additional, Bauwens, Miriam, additional, Barboni, Piero, additional, Birtel, Johannes, additional, Biswas, Susmito, additional, Black, Graeme C.M., additional, Blanchet, Catherine, additional, Bocquet, Béatrice, additional, Boon, Camiel J.F., additional, Brézin, Antoine, additional, Roziers, Cyril Burin des, additional, Burkitt-Wright, Emma, additional, Callea, Michele, additional, Carbonelli, Michele, additional, Carelli, Valerio, additional, Cehajic-Kapetanovic, Jasmina, additional, Chandler, Kate E., additional, Chandra, Aman, additional, Clayton-Smith, Jill, additional, Colijn, Johanna M., additional, Coppieters, Frauke, additional, A. Cukras, Catherine, additional, Daly, Avril, additional, De Baere, Elfride, additional, De Zaeytijd, Julie, additional, Borman, Arundhati Dev, additional, Dollfus, Hélène, additional, Houge, Sofia Douzgou, additional, Engle, Elizabeth C., additional, Escher, Pascal, additional, Evans, D. Gareth, additional, Fahnehjelm, Kristina Teär, additional, Fasser, Christina, additional, Fiore, Mathieu, additional, Fujinami, Kaoru, additional, Fujinami-Yokokawa, Yu, additional, Gallie, Brenda L., additional, Georgiou, Michalis, additional, Gliem, Martin, additional, Grudzinska Pechhacker, Monika K., additional, Hall, Georgina, additional, Harmening, Wolf M., additional, Henderson, Robert H., additional, Héon, Elise, additional, Hirji, Nashila, additional, Holz, Frank G., additional, A. Huryn, Laryssa, additional, Jones, Elizabeth A., additional, Kalatzis, Vasiliki, additional, Khan, Arif O., additional, Kim, Ungsoo S., additional, Klaver, Caroline C.W., additional, Kumaran, Neruban, additional, La Morgia, Chiara, additional, Lalloo, Fiona, additional, Lasseaux, Eulalie, additional, Lee, Helena, additional, Lenaers, Guy, additional, Lenassi, Eva, additional, Leroy, Bart P., additional, Liskova, Petra, additional, Lloyd, I. Christopher, additional, MacLaren, Robert E., additional, Mahroo, Omar A., additional, Mejia-Vergara, Alvaro J., additional, Meunier, Isabelle, additional, Michaelides, Michel, additional, Moore, Anthony T., additional, Moosajee, Mariya, additional, Morice-Picard, Fanny, additional, Munier, Francis L., additional, Neveu, Magella M., additional, O'Neil, Erin C., additional, Nordenström, Anna, additional, Parry, Neil R.A., additional, Patrício, Maria I., additional, Parulekar, Manoj V., additional, Ram, Dipak, additional, Ramsden, Simon C., additional, Robitaille, Johane, additional, Robson, Anthony G., additional, Rothschild, Pierre-Raphaël, additional, Sadun, Alfredo A., additional, Schuerch, Kaspar, additional, Seabra, Miguel C., additional, Self, Jay E., additional, Sergouniotis, Panagiotis I., additional, Shaya, Fadi, additional, Sieving, Paul A., additional, Strubbe, Ine, additional, Simonelli, Francesca, additional, Small, Kent W., additional, Snead, Martin P., additional, Stepien, Karolina M., additional, Talib, Mays, additional, Taylor, Rachel L., additional, Testa, Francesco, additional, Thiadens, Alberta A.H.J., additional, Traboulsi, Elias I., additional, Tran, Viet H., additional, Vaclavik, Veronika, additional, Valleix, Sophie, additional, Van Cauwenbergh, Caroline, additional, Van Schil, Kristof, additional, Whitman, Mary C., additional, Willoughby, Colin E., additional, Xue, Kanmin, additional, Yang, Jingyan, additional, Yu-Wai-Man, Patrick, additional, Zeitz, Christina, additional, and Zinkernagel, Martin, additional

Published
2022
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36. Voretigene neparvovec for inherited retinal dystrophy due to RPE65mutations: a scoping review of eligibility and treatment challenges from clinical trials to real practice

Author

Testa, Francesco, Bacci, Giacomo, Falsini, Benedetto, Iarossi, Giancarlo, Melillo, Paolo, Mucciolo, Dario Pasquale, Murro, Vittoria, Salvetti, Anna Paola, Sodi, Andrea, Staurenghi, Giovanni, and Simonelli, Francesca

Abstract

Biallelic mutations in the RPE65gene affect nearly 8% of Leber Congenital Amaurosis and 2% of Retinitis Pigmentosa cases. Voretigene neparvovec (VN) is the first gene therapy approach approved for their treatment. To date, real life experience has demonstrated functional improvements following VN treatment, which are consistent with the clinical trials outcomes. However, there is currently no consensus on the characteristics for eligibility for VN treatment. We reviewed relevant literature to explore whether recommendations on patient eligibility can be extrapolated following VN marketing. We screened 166 papers through six research questions, following scoping reviews methodology, to investigate: (1) the clinical and genetic features considered in VN treatment eligibility; (2) the psychophysical tests and imaging modalities used in the pre-treatment and follow-up; (3) the potential correlations between visual function and retinal structure that can be used to define treatment impact on disease progression; (4) retinal degeneration; (5) the most advanced testing modalities; and (6) the impact of surgical procedure on treatment outcomes. Current gaps concerning patients’ eligibility in clinical settings, such as pre-treatment characteristics and outcomes are not consistently reported across the studies. No upper limit of retinal degeneration can be defined as the univocal factor in patient eligibility, although evidence suggested that the potential for function rescue is related to the preservation of photoreceptors before treatment. In general, paediatric patients retain more viable cells, present a less severe disease stage and show the highest potential for improvements, making them the most suitable candidates for treatment.

Published
2024
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40. Development and Validation of Empirical Formulations for Predicting the Frequency of Historic Masonry Towers.

Author

Testa, Francesco, Barontini, Alberto, and Lourenço, Paulo B.

Subjects
ARTIFICIAL neural networks, STONEMASONRY, MASONRY, DATABASES
Abstract

In the present work, a large database comprising a set of features related to geometry, type of boundary condition, type of material and experimental value of the first natural frequency for 184 historic masonry towers is collected. The database is then used to develop empirical formulas for the estimation of the fundamental frequency related to the first bending mode. The data are divided into a training set and a validation set for a correct assessment of the empirical equations, generated through power regression and artificial neural network. Different combinations of features are exploited as independent variables to investigate their influence on the dynamic behaviour of masonry towers. To improve the accuracy of the prediction, distinct models are generated for specific clusters with likely homogeneous behaviour, according to the boundary conditions (isolated or bounded) and type of materials (brick, stone or mixed masonry). [ABSTRACT FROM AUTHOR]

Published
2024
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41. Toward a Novel Medical Device Based on Chromatic Pupillometry for Screening and Monitoring of Inherited Ocular Disease: A Pilot Study

Author

Melillo, Paolo, de Benedictis, Antonella, Villani, Edoardo, Ferraro, Maria Concetta, Iadanza, Ernesto, Gherardelli, Monica, Testa, Francesco, Banfi, Sandro, Nucci, Paolo, Simonelli, Francesca, Magjarevic, Ratko, Editor-in-Chief, Ładyżyński, Piotr, Series Editor, Ibrahim, Fatimah, Series Editor, Lacković, Igor, Series Editor, Rock, Emilio Sacristan, Series Editor, Lhotska, Lenka, editor, Sukupova, Lucie, editor, and Ibbott, Geoffrey S., editor

Published
2019
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46. Late‐onset mucopolysaccharidosis type IIIA mimicking Usher syndrome

Author

De Falco, Alessandro, primary, Karali, Marianthi, additional, Criscuolo, Chiara, additional, Testa, Francesco, additional, Barillari, Maria Rosaria, additional, Scarpato, Margherita, additional, Gaudieri, Valeria, additional, Cuocolo, Alberto, additional, Russo, Anna, additional, Nigro, Vincenzo, additional, Simonelli, Francesca, additional, Banfi, Sandro, additional, and Brunetti‐Pierri, Nicola, additional

Published
2023
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48. Drivers, Obstacles and Benefits of the Adoption of SA8000: A Survey in Italian Companies

Author

Heras-Saizarbitoria, Iñaki, Talamazzi, Giovanna, Testa, Francesco, Boiral, Olivier, Chiarini, Andrea, Editor-in-chief, Choudhary, Alok, Series editor, Coronado Mondragon, Adrian E., Series editor, Found, Pauline, Series editor, Gouvea da Costa, Sergio E., Series editor, Heras-Saizarbitoria, Inaki, Series editor, Jacobs, Kerry, Series editor, Neamtu, Adina Claudia, Series editor, Russell, Roberta S., Series editor, Starr, Martin, Series editor, Vagnoni, Emidia, Series editor, Vecchi, Alessandra, Series editor, Yadollahi Farsi, Jahangir, Series editor, and Heras-Saizarbitoria, Iñaki, editor

Published
2018
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49. Analysis of the ABCA4 genomic locus in Stargardt disease

Author

Zernant, Jana, Xie, Yajing, Ayuso, Carmen, Riveiro-Alvarez, Rosa, Lopez-Martinez, Miguel-Angel, Simonelli, Francesca, Testa, Francesco, Gorin, Michael B, Strom, Samuel P, Bertelsen, Mette, Rosenberg, Thomas, Boone, Philip M, Yuan, Bo, Ayyagari, Radha, Nagy, Peter L, Tsang, Stephen H, Gouras, Peter, Collison, Frederick T, Lupski, James R, Fishman, Gerald A, and Allikmets, Rando

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Genetics, Clinical Research, Biotechnology, Human Genome, Aetiology, 2.1 Biological and endogenous factors, ATP-Binding Cassette Transporters, Alleles, Black People, Case-Control Studies, Comparative Genomic Hybridization, Exons, Female, Gene Expression, Genes, Recessive, Genetic Loci, Genetic Variation, Heterozygote, High-Throughput Nucleotide Sequencing, Homozygote, Humans, Introns, Macular Degeneration, Male, Mutation, Pedigree, Stargardt Disease, White People, Medical and Health Sciences, Genetics & Heredity
Abstract

Autosomal recessive Stargardt disease (STGD1, MIM 248200) is caused by mutations in the ABCA4 gene. Complete sequencing of ABCA4 in STGD patients identifies compound heterozygous or homozygous disease-associated alleles in 65-70% of patients and only one mutation in 15-20% of patients. This study was designed to find the missing disease-causing ABCA4 variation by a combination of next-generation sequencing (NGS), array-Comparative Genome Hybridization (aCGH) screening, familial segregation and in silico analyses. The entire 140 kb ABCA4 genomic locus was sequenced in 114 STGD patients with one known ABCA4 exonic mutation revealing, on average, 200 intronic variants per sample. Filtering of these data resulted in 141 candidates for new mutations. Two variants were detected in four samples, two in three samples, and 20 variants in two samples, the remaining 117 new variants were detected only once. Multimodal analysis suggested 12 new likely pathogenic intronic ABCA4 variants, some of which were specific to (isolated) ethnic groups. No copy number variation (large deletions and insertions) was detected in any patient suggesting that it is a very rare event in the ABCA4 locus. Many variants were excluded since they were not conserved in non-human primates, were frequent in African populations and, therefore, represented ancestral, and not disease-associated, variants. The sequence variability in the ABCA4 locus is extensive and the non-coding sequences do not harbor frequent mutations in STGD patients of European-American descent. Defining disease-associated alleles in the ABCA4 locus requires exceptionally well characterized large cohorts and extensive analyses by a combination of various approaches.

Published
2014

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