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3,003 results on '"A. Petrocelli"'

206. Optical conductivity of CuO_2 infinite-layer films

Author

Dore, P., Calvani, P., De Marzi, G., Paolone, A., Lupi, S., Balestrino, G., Petrocelli, G., and Desfeux, R.

Subjects
Condensed Matter - Superconductivity
Abstract

The infrared conductivity of CaCuO_2, SrCuO_{2-y}, and Sr_{0.85}Nd_{0.15}CuO_2 infinite-layer films is obtained from reflectivity measurements by taking into account the substrate contribution. SrCuO_{2-y} and Sr_{0.85}Nd_{0.15}CuO_2 exhibit extra-phonon modes and structured bands in the midinfrared, not found in stoichiometric CaCuO_2. These features mirror those observed in the perovskitic cuprates, thus showing that the polaronic properties of high-T_c superconductors are intrinsic to the CuO_2 planes., Comment: File latex, 5 p. incl. 4 fig. in epsf. Submitted to Solid State Comm

Published
1997
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208. O Sub-registro de Nascimento como Processo de Exclusão Social e Acesso aos Direitos da Personalidade: um Paralelo entre o Indivíduo destituído de Registro de Nascimento e a Figura do Homo sacer de Giorgio Agamben

Author

Aimee Bortollo Petrocelli and Cleide Aparecida Gomes Rodrigues Fermentão

Subjects
General Medicine
Abstract

Este artigo objetiva demonstrar a importância do registro civil de nascimento no processo de inclusão social e acesso aos direitos da personalidade, bem como realizar um comparativo entre o indivíduo destituído de certidão de nascimento e a figura do homo sacer de Giorgio Agamben. Para tanto, apresenta-se o conceito de registro de nascimento e seus desdobramentos na vida do indivíduo; um breve panorama mundial do sub-registro de nascimento; o sub-registro de nascimento como um processo de exclusão social, que viola os direitos da personalidade e, ao final, compara-se o indivíduo destituído de certidão de nascimento à figura do homo sacer, de Giorgio Agamben. Quanto à metodologia, este artigo utilizará a pesquisa bibliográfica e documental, com abordagem teórico-doutrinária, tendo por base o método de pesquisa dedutivo.

Published
2022
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209. Cytochalasins as Modulators of Stem Cell Differentiation.

Author

Pampanella, Luca, Petrocelli, Giovannamaria, Abruzzo, Provvidenza Maria, Zucchini, Cinzia, Canaider, Silvia, Ventura, Carlo, and Facchin, Federica

Subjects
*CYTOCHALASINS, *CELL differentiation, *STEM cells, *MESENCHYMAL stem cells, *REGENERATIVE medicine
Abstract

Regenerative medicine aims to identify new research strategies for the repair and restoration of tissues damaged by pathological or accidental events. Mesenchymal stem cells (MSCs) play a key role in regenerative medicine approaches due to their specific properties, such as the high rate of proliferation, the ability to differentiate into several cell lineages, the immunomodulatory potential, and their easy isolation with minimal ethical issues. One of the main goals of regenerative medicine is to modulate, both in vitro and in vivo, the differentiation potential of MSCs to improve their use in the repair of damaged tissues. Over the years, much evidence has been collected about the ability of cytochalasins, a large family of 60 metabolites isolated mainly from fungi, to modulate multiple properties of stem cells (SCs), such as proliferation, migration, and differentiation, by altering the organization of the cyto- and the nucleo-skeleton. In this review, we discussed the ability of two different cytochalasins, cytochalasins D and B, to influence specific SC differentiation programs modulated by several agents (chemical or physical) or intra- and extra-cellular factors, with particular attention to human MSCs (hMSCs). [ABSTRACT FROM AUTHOR]

Published
2024
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210. «Un anno che resterà memorabile»: l'esperienza de La Scozia e la comunità italiana.

Author

Petrocelli, Remigio

Subjects
*NEWSPAPER publishing, *DIASPORA, *INDIVIDUALISM, *IMMIGRANTS, *HISTORIOGRAPHY
Abstract

The article focuses on the life of the first Italian newspaper ever published in Scotland, named La Scozia, and founded in Glasgow in 1908 by Filippo and Gaetano Cafaro. A perusal of the weekly shows the projects and initiatives launched by the Cafaros and the contributors aimed at cementing and educating the small, dispersed and uneducated Italian community in Scotland. Despite its very short life and failure at achieving some objectives, La Scozia has promoted discussions and revitalised a diaspora distinguished by individualism and devoted mainly to economic aspects rather than social and cultural ones. This analysis, therefore, will prove the crucial role of ethnic press among the Italian emigrants and, at the same time, will provide a picture of the Italian-Scottish community in the early 1900, which is still neglected by Italian and British historiography. [ABSTRACT FROM AUTHOR]

Published
2024

211. Skeletal muscle-specific inducible AMPKα1/α2 knockout mice develop muscle weakness, glycogen depletion, and fibrosis that persists during disuse atrophy.

Author

Petrocelli, Jonathan J., Jingtong Liu, Yee, Elena M., Ferrara, Patrick J., Bourrant, Paul-Emile, de Hart, Naomi M. M. P., Tatum, Sean M., Holland, William J., Katsuhiko Funai, and Drummond, Micah J.

Subjects
*KNOCKOUT mice, *GLYCOGEN, *AMP-activated protein kinases, *MUSCLE weakness, *CELLULAR aging, *MUSCULAR atrophy, *HINDLIMB
Abstract

The 5' adenosine monophosphate-activated protein kinase (AMPK) is an important skeletal muscle regulator implicated as a possible therapeutic target to ameliorate the local undesired deconditioning of disuse atrophy. However, the muscle-specific role of AMPK in regulating muscle function, fibrosis, and transcriptional reprogramming during physical disuse is unknown. The purpose of this study was to determine how the absence of both catalytic subunits of AMPK in skeletal muscle influences muscle force production, collagen deposition, and the transcriptional landscape. We generated skeletal muscle-specific tamoxifen-inducible AMPKα1/α2 knockout (AMPKα-/-) mice that underwent 14 days of hindlimb unloading (HU) or remained ambulatory for 14 days (AMB). We found that AMPKα-/- during ambulatory conditions altered body weight and myofiber size, decreased muscle function, depleted glycogen stores and TBC1 domain family member 1 (TBC1D1) phosphorylation, increased collagen deposition, and altered transcriptional pathways. Primarily, pathways related to cellular senescence and mitochondrial biogenesis and function were influenced by the absence of AMPKα. The effects of AMPKα-/- persisted, but were not worsened, following hindlimb unloading. Together, we report that AMPKα is necessary to maintain skeletal muscle quality. NEW & NOTEWORTHY: We determined that skeletal muscle-specific AMPKα knockout (KO) mice display functional, fibrotic, and transcriptional alterations before and during muscle disuse atrophy. We also observed that AMPKα KO drives muscle fibrosis and pathways related to cellular senescence that continues during the hindlimb unloading period. [ABSTRACT FROM AUTHOR]

Published
2024
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215. Towards cell-inspired particle-based microrobots: Optimisation of the encapsulation of microparticles in lipid membranes

Author

De Remigis, Eugenia, Petrucci, Gaia, Roberti, Elisa, Cecchi, Dario, Gómez Bernal, Hilda, Petrocelli, Elisa L., Sharma, Jyoti, Bianciardi, Francesco, and Palagi, Stefano

Subjects
active particles, confinement, CELLOIDS, deformability, microrobots
Abstract

Poster presented by Eugenia De Remigis at theLiving Machines 2023conference, held in Genoa, Italy, on July 10 - 13, 2023.

Published
2023
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216. Dermal Substitutes and Skin Grafts in the Reconstruction of Post-Traumatic Total Scalp Avulsion: A Case Series

Author

Marzia Petrocelli, Giulia Togo, Silvia Ricci, Flavia Zeneli, Sebastiano Cutrupi, Annamaria Baietti, Paola Bonavolontà, Luigi Califano, Luigi Angelo Vaira, Alfonso Scarpa, Arianna Di Stadio, Giovanni Salzano, Petrocelli, Marzia, Togo, Giulia, Ricci, Silvia, Zeneli, Flavia, Cutrupi, Sebastiano, Baietti, Annamaria, Bonavolonta', Paola, Califano, Luigi, Vaira, LUIGI ANGELO, Scarpa, Alfonso, Di Stadio, Arianna, and Salzano, Giovanni

Subjects
split-thickness skin graft (STSG), dermal substitute, scalp reconstruction, General Medicine, scalp avulsion
Abstract

Although scalp defects can vary in size and thickness, scalp avulsion represents a rare occurrence. This type of lesion may have different origins, but it is usually related to long hair being caught in agricultural machinery. The management of full-thickness scalp defects poses a challenge to the head and neck surgeon due to the possible involvement of neurovascular structures and scar retraction, which can affect the esthetic restoration of the area. Several algorithms for the choice of scalp reconstruction have been proposed in the literature and different techniques are available for extensive scalp defect reconstruction (local soft tissue flap, microvascular free flap, and skin graft combined with dermal substitutes), based upon the scalp defect type. Here we describe six cases of patients with total scalp avulsion, which required a combined reconstruction with a split-thickness skin graft (STSG) and Integra® matrix immediately after the trauma.

Published
2023

219. Whole-genome sequencing reveals host factors underlying critical COVID-19

Author

Kousathanas, A, Pairo-Castineira, E, Rawlik, K, Stuckey, A, Odhams, C, Walker, S, Russell, C, Malinauskas, T, Wu, Y, Millar, J, Shen, X, Elliott, K, Griffiths, F, Oosthuyzen, W, Morrice, K, Keating, S, Wang, B, Rhodes, D, Klaric, L, Zechner, M, Parkinson, N, Siddiq, A, Goddard, P, Donovan, S, Maslove, D, Nichol, A, Semple, M, Zainy, T, Maleady-Crowe, F, Todd, L, Salehi, S, Knight, J, Elgar, G, Chan, G, Arumugam, P, Patch, C, Rendon, A, Bentley, D, Kingsley, C, Kosmicki, J, Horowitz, J, Baras, A, Abecasis, G, Ferreira, M, Justice, A, Mirshahi, T, Oetjens, M, Rader, D, Ritchie, M, Verma, A, Fowler, T, Shankar-Hari, M, Summers, C, Hinds, C, Horby, P, Ling, L, Mcauley, D, Montgomery, H, Openshaw, P, Elliott, P, Walsh, T, Tenesa, A, Shelton, J, Shastri, A, Ye, C, Weldon, C, Filshtein-Sonmez, T, Coker, D, Symons, A, Esparza-Gordillo, J, Aslibekyan, S, Auton, A, Pathak, G, Karjalainen, J, Stevens, C, Andrews, S, Kanai, M, Cordioli, M, Polimanti, R, Pirinen, M, Harerimana, N, Veerapen, K, Wolford, B, Nguyen, H, Solomonson, M, Liao, R, Chwialkowska, K, Trankiem, A, Balaconis, M, Hayward, C, Richmond, A, Campbell, A, Morris, M, Fawns-Ritchie, C, Glessner, J, Shaw, D, Chang, X, Polikowski, H, Petty, L, Chen, H, Wanying, Z, Hakonarson, H, Porteous, D, Below, J, North, K, Mccormick, J, Timmers, P, Wilson, J, D'Mellow, K, Kerr, S, Niemi, M, Nkambul, L, von Hohenstaufen, K, Sobh, A, Eltoukhy, M, Yassen, A, Hegazy, M, Okasha, K, Eid, M, Moahmed, H, Shahin, D, El-Sherbiny, Y, Elhadidy, T, Abd Elghafar, M, El-Jawhari, J, Mohamed, A, Elnagdy, M, Samir, A, Abdel-Aziz, M, Khafaga, W, El-Lawaty, W, Torky, M, El-shanshory, M, Batini, C, Lee, P, Shrine, N, Williams, A, Tobin, M, Guyatt, A, John, C, Packer, R, Ali, A, Free, R, Wang, X, Wain, L, Hollox, E, Venn, L, Bee, C, Adams, E, Niavarani, A, Sharififard, B, Aliannejad, R, Amirsavadkouhi, A, Naderpour, Z, Tadi, H, Aleagha, A, Ahmadi, S, Moghaddam, S, Adamsara, A, Saeedi, M, Abdollahi, H, Hosseini, A, Chariyavilaskul, P, Chamnanphon, M, Suttichet, T, Shotelersuk, V, Pongpanich, M, Phokaew, C, Chetruengchai, W, Jantarabenjakul, W, Putchareon, O, Torvorapanit, P, Puthanakit, T, Suchartlikitwong, P, Hirankarn, N, Nilaratanakul, V, Sodsai, P, Brumpton, B, Hveem, K, Willer, C, Zhou, W, Rogne, T, Solligard, E, Asvold, B, Abedalthagafi, M, Alaamery, M, Alqahtani, S, Barakeh, D, Al Harthi, F, Alsolm, E, Safieh, L, Alowayn, A, Alqubaishi, F, Al Mutairi, A, Mangul, S, Alshareef, A, Sawaji, M, Almutairi, M, Aljawini, N, Albesher, N, Arabi, Y, Mahmoud, E, Khattab, A, Halawani, R, Alahmadey, Z, Albakri, J, Felemban, W, Suliman, B, Hasanato, R, Al-Awdah, L, Alghamdi, J, Alzahrani, D, Aljohani, S, Al-Afghani, H, Alrashed, M, Aldhawi, N, Albardis, H, Alkwai, S, Alswailm, M, Almalki, F, Albeladi, M, Almohammed, I, Barhoush, E, Albader, A, Massadeh, S, Almalik, A, Alotaibi, S, Alghamdi, B, Jung, J, Fawzy, M, Lee, Y, Magnus, P, Trogstad, L, Helgeland, O, Harris, J, Mangino, M, Spector, T, Duncan, E, Smieszek, S, Przychodzen, B, Polymeropoulos, C, Polymeropoulos, V, Polymeropoulos, M, Fernandez-Cadenas, I, Perez-Tur, J, Llucia-Carol, L, Cullell, N, Muino, E, Carcel-Marquez, J, Dediego, M, Iglesias, L, Planas, A, Soriano, A, Rico, V, Aguero, D, Bedini, J, Lozano, F, Domingo, C, Robles, V, Ruiz-Jaen, F, Marquez, L, Gomez, J, Coto, E, Albaiceta, G, Garcia-Clemente, M, Dalmau, D, Arranz, M, Dietl, B, Serra-Llovich, A, Soler, P, Colobran, R, Martin-Nalda, A, Martinez, A, Bernardo, D, Rojo, S, Fiz-Lopez, A, Arribas, E, de la Cal-Sabater, P, Segura, T, Gonzalez-Villa, E, Serrano-Heras, G, Marti-Fabregas, J, Jimenez-Xarrie, E, de Felipe Mimbrera, A, Masjuan, J, Garcia-Madrona, S, Dominguez-Mayoral, A, Villalonga, J, Menendez-Valladares, P, Chasman, D, Buring, J, Ridker, P, Franco, G, Sesso, H, Manson, J, Medina-Gomez, C, Uitterlinden, A, Ikram, M, Kristiansson, K, Koskelainen, S, Perola, M, Donner, K, Kivinen, K, Palotie, A, Ripatti, S, Ruotsalainen, S, Kaunisto, M, Nakanishi, T, Butler-Laporte, G, Forgetta, V, Morrison, D, Ghosh, B, Laurent, L, Belisle, A, Henry, D, Abdullah, T, Adeleye, O, Mamlouk, N, Kimchi, N, Afrasiabi, Z, Rezk, N, Vulesevic, B, Bouab, M, Guzman, C, Petitjean, L, Tselios, C, Xue, X, Schurr, E, Afilalo, J, Afilalo, M, Oliveira, M, Brenner, B, Lepage, P, Ragoussis, J, Auld, D, Brassard, N, Durand, M, Chasse, M, Kaufmann, D, Lathrop, G, Mooser, V, Richards, J, Li, R, Adra, D, Rahmouni, S, Georges, M, Moutschen, M, Misset, B, Darcis, G, Guiot, J, Guntz, J, Azarzar, S, Gofflot, S, Beguin, Y, Claassen, S, Malaise, O, Huynen, P, Meuris, C, Thys, M, Jacques, J, Leonard, P, Frippiat, F, Giot, J, Sauvage, A, von Frenckell, C, Belhaj, Y, Lambermont, B, Pigazzini, S, Nkambule, L, Daya, M, Shortt, J, Rafaels, N, Wicks, S, Crooks, K, Barnes, K, Gignoux, C, Chavan, S, Laisk, T, Lall, K, Lepamets, M, Magi, R, Esko, T, Reimann, E, Milani, L, Alavere, H, Metsalu, K, Puusepp, M, Metspalu, A, Naaber, P, Laane, E, Pesukova, J, Peterson, P, Kisand, K, Tabri, J, Allos, R, Hensen, K, Starkopf, J, Ringmets, I, Tamm, A, Kallaste, A, Bochud, P, Rivolta, C, Bibert, S, Quinodoz, M, Kamdar, D, Boillat, N, Nussle, S, Albrich, W, Suh, N, Neofytos, D, Erard, V, Voide, C, de Cid, R, Galvan-Femenia, I, Blay, N, Carreras, A, Cortes, B, Farre, X, Sumoy, L, Moreno, V, Mercader, J, Guindo-Martinez, M, Torrents, D, Kogevinas, M, Garcia-Aymerich, J, Castano-Vinyals, G, Dobano, C, Renieri, A, Mari, F, Fallerini, C, Daga, S, Benetti, E, Baldassarri, M, Fava, F, Frullanti, E, Valentino, F, Doddato, G, Giliberti, A, Tita, R, Amitrano, S, Bruttini, M, Croci, S, Meloni, I, Mencarelli, M, Rizzo, C, Pinto, A, Beligni, G, Tommasi, A, Di Sarno, L, Palmieri, M, Carriero, M, Alaverdian, D, Busani, S, Bruno, R, Vecchia, M, Belli, M, Picchiotti, N, Sanarico, M, Gori, M, Furini, S, Mantovani, S, Ludovisi, S, Mondelli, M, Castelli, F, Quiros-Roldan, E, Antoni, M, Zanella, I, Vaghi, M, Rusconi, S, Siano, M, Montagnani, F, Emiliozzi, A, Fabbiani, M, Rossetti, B, Bargagli, E, Bergantini, L, D'Alessandro, M, Cameli, P, Bennett, D, Anedda, F, Marcantonio, S, Scolletta, S, Franchi, F, Mazzei, M, Guerrini, S, Conticini, E, Cantarini, L, Frediani, B, Tacconi, D, Spertilli, C, Feri, M, Donati, A, Scala, R, Guidelli, L, Spargi, G, Corridi, M, Nencioni, C, Croci, L, Bandini, M, Caldarelli, G, Piacentini, P, Desanctis, E, Cappelli, S, Canaccini, A, Verzuri, A, Anemoli, V, Ognibene, A, Pancrazzi, A, Lorubbio, M, D'Arminio Monforte, A, Miraglia, F, Girardis, M, Venturelli, S, Cossarizza, A, Antinori, A, Vergori, A, Gabrieli, A, Riva, A, Francisci, D, Schiaroli, E, Paciosi, F, Scotton, P, Andretta, F, Panese, S, Scaggiante, R, Gatti, F, Parisi, S, Baratti, S, Della Monica, M, Piscopo, C, Capasso, M, Russo, R, Andolfo, I, Iolascon, A, Fiorentino, G, Carella, M, Castori, M, Merla, G, Squeo, G, Aucella, F, Raggi, P, Marciano, C, Perna, R, Bassetti, M, Di Biagio, A, Sanguinetti, M, Masucci, L, Valente, S, Mandala, M, Giorli, A, Salerni, L, Zucchi, P, Parravicini, P, Menatti, E, Trotta, T, Giannattasio, F, Coiro, G, Lena, F, Coviello, D, Mussini, C, Martinelli, E, Mancarella, S, Tavecchia, L, Crotti, L, Gabbi, C, Rizzi, M, Maggiolo, F, Ripamonti, D, Bachetti, T, La Rovere, M, Sarzi-Braga, S, Bussotti, M, Ceri, S, Pinoli, P, Raimondi, F, Biscarini, F, Stella, A, Zguro, K, Capitani, K, Suardi, C, Dei, S, Parati, G, Ravaglia, S, Artuso, R, Botta, G, Di Domenico, P, Rancan, I, Perrella, A, Bianchi, F, Romani, D, Bergomi, P, Catena, E, Colombo, R, Tanfoni, M, Vincenti, A, Ferri, C, Grassi, D, Pessina, G, Tumbarello, M, Di Pietro, M, Sabrina, R, Luchi, S, Barbieri, C, Acquilini, D, Andreucci, E, Segala, F, Tiseo, G, Falcone, M, Lista, M, Poscente, M, De Vivo, O, Petrocelli, P, Guarnaccia, A, Baroni, S, Smith, A, Boughton, A, Li, K, Lefaive, J, Annis, A, Chittoor, G, Josyula, N, Leader, J, Carey, D, Gass, M, Cantor, M, Yadav, A, van Heel, D, Hunt, K, Mason, D, Huang, Q, Finer, S, Trivedi, B, Griffiths, C, Martin, H, Wright, J, Trembath, R, Soranzo, N, Zhao, J, Butterworth, A, Danesh, J, Di Angelantonio, E, Franke, L, Boezen, M, Deelen, P, Claringbould, A, Lopera, E, Warmerdam, R, Vonk, J, van Blokland, I, Lanting, P, Ori, A, Zollner, S, Wang, J, Beck, A, Peloso, G, Ho, Y, Sun, Y, Huffman, J, O'Donnell, C, Cho, K, Tsao, P, Gaziano, J, Nivard, M, de Geus, E, Bartels, M, Jan Hottenga, J, Weiss, S, Karlson, E, Smoller, J, Green, R, Feng, Y, Murphy, S, Meigs, J, Woolley, A, Perez, E, Li, B, Verma, S, Lucas, A, Bradford, Y, Zeberg, H, Frithiof, R, Hultstrom, M, Lipcsey, M, Tardif, N, Rooyackers, O, Grip, J, Maricic, T, Karczewski, K, Atkinson, E, Tsuo, K, Baya, N, Turley, P, Gupta, R, Callier, S, Walters, R, Palmer, D, Sarma, G, Cheng, N, Lu, W, Bryant, S, Churchhouse, C, Cusick, C, Goldstein, J, King, D, Seed, C, Finucane, H, Martin, A, Satterstrom, F, Wilson, D, Armstrong, J, Rudkin, J, Band, G, Earle, S, Lin, S, Arning, N, Crook, D, Wyllie, D, O'Connell, A, Spencer, C, Koelling, N, Caulfield, M, Scott, R, Moutsianas, L, Pasko, D, Ball, C, Hong, E, Rand, K, Girshick, A, Guturu, H, Baltzell, A, Roberts, G, Park, D, Coignet, M, Mccurdy, S, Knight, S, Partha, R, Rhead, B, Zhang, M, Berkowitz, N, Gaddis, M, Noto, K, Ruiz, L, Pavlovic, M, Sloofman, L, Charney, A, Beckmann, N, Schadt, E, Jordan, D, Thompson, R, Gettler, K, Abul-Husn, N, Ascolillo, S, Buxbaum, J, Chaudhary, K, Cho, J, Itan, Y, Kenny, E, Belbin, G, Sealfon, S, Sebra, R, Salib, I, Collins, B, Levy, T, Britvan, B, Keller, K, Tang, L, Peruggia, M, Hiester, L, Niblo, K, Aksentijevich, A, Labkowsky, A, Karp, A, Zlatopolsky, M, Preuss, M, Loos, R, Nadkarni, G, Do, R, Hoggart, C, Choi, S, Underwood, S, O'Reilly, P, Huckins, L, Zyndorf, M, Daly, M, Neale, B, Ganna, A, Fawkes, A, Murphy, L, Rowan, K, Ponting, C, Vitart, V, Yang, J, Bretherick, A, Hendry, S, Law, A, Baillie, J, Kousathanas A., Pairo-Castineira E., Rawlik K., Stuckey A., Odhams C. A., Walker S., Russell C. D., Malinauskas T., Wu Y., Millar J., Shen X., Elliott K. S., Griffiths F., Oosthuyzen W., Morrice K., Keating S., Wang B., Rhodes D., Klaric L., Zechner M., Parkinson N., Siddiq A., Goddard P., Donovan S., Maslove D., Nichol A., Semple M. G., Zainy T., Maleady-Crowe F., Todd L., Salehi S., Knight J., Elgar G., Chan G., Arumugam P., Patch C., Rendon A., Bentley D., Kingsley C., Kosmicki J. A., Horowitz J. E., Baras A., Abecasis G. R., Ferreira M. A. R., Justice A., Mirshahi T., Oetjens M., Rader D. J., Ritchie M. D., Verma A., Fowler T. A., Shankar-Hari M., Summers C., Hinds C., Horby P., Ling L., McAuley D., Montgomery H., Openshaw P. J. M., Elliott P., Walsh T., Tenesa A., Shelton J. F., Shastri A. J., Ye C., Weldon C. H., Filshtein-Sonmez T., Coker D., Symons A., Esparza-Gordillo J., Aslibekyan S., Auton A., Pathak G. A., Karjalainen J., Stevens C., Andrews S. J., Kanai M., Cordioli M., Polimanti R., Pirinen M., Harerimana N., Veerapen K., Wolford B., Nguyen H., Solomonson M., Liao R. G., Chwialkowska K., Trankiem A., Balaconis M. K., Hayward C., Richmond A., Campbell A., Morris M., Fawns-Ritchie C., Glessner J. T., Shaw D. M., Chang X., Polikowski H., Petty L. E., Chen H. -H., Wanying Z., Hakonarson H., Porteous D. J., Below J., North K., McCormick J. B., Timmers P. R. H. J., Wilson J. F., D'Mellow K., Kerr S. M., Niemi M. E. K., Nkambul L., von Hohenstaufen K. A., Sobh A., Eltoukhy M. M., Yassen A. M., Hegazy M. A. F., Okasha K., Eid M. A., Moahmed H. S., Shahin D., El-Sherbiny Y. M., Elhadidy T. A., Abd Elghafar M. S., El-Jawhari J. J., Mohamed A. A. S., Elnagdy M. H., Samir A., Abdel-Aziz M., Khafaga W. T., El-Lawaty W. M., Torky M. S., El-shanshory M. R., Batini C., Lee P. H., Shrine N., Williams A. T., Tobin M. D., Guyatt A. L., John C., Packer R. J., Ali A., Free R. C., Wang X., Wain L. V., Hollox E. J., Venn L. D., Bee C. 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P., Vitart V., Yang J., Bretherick A. D., Hendry S. C., Law A., and Baillie J. K.

Abstract

Critical COVID-19 is caused by immune-mediated inflammatory lung injury. Host genetic variation influences the development of illness requiring critical care1 or hospitalization2–4 after infection with SARS-CoV-2. The GenOMICC (Genetics of Mortality in Critical Care) study enables the comparison of genomes from individuals who are critically ill with those of population controls to find underlying disease mechanisms. Here we use whole-genome sequencing in 7,491 critically ill individuals compared with 48,400 controls to discover and replicate 23 independent variants that significantly predispose to critical COVID-19. We identify 16 new independent associations, including variants within genes that are involved in interferon signalling (IL10RB and PLSCR1), leucocyte differentiation (BCL11A) and blood-type antigen secretor status (FUT2). Using transcriptome-wide association and colocalization to infer the effect of gene expression on disease severity, we find evidence that implicates multiple genes—including reduced expression of a membrane flippase (ATP11A), and increased expression of a mucin (MUC1)—in critical disease. Mendelian randomization provides evidence in support of causal roles for myeloid cell adhesion molecules (SELE, ICAM5 and CD209) and the coagulation factor F8, all of which are potentially druggable targets. Our results are broadly consistent with a multi-component model of COVID-19 pathophysiology, in which at least two distinct mechanisms can predispose to life-threatening disease: failure to control viral replication; or an enhanced tendency towards pulmonary inflammation and intravascular coagulation. We show that comparison between cases of critical illness and population controls is highly efficient for the detection of therapeutically relevant mechanisms of disease.

Published
2022

220. Whole-genome sequencing reveals host factors underlying critical COVID-19

Author

Kousathanas, A., Pairo-Castineira, E., Rawlik, K., Stuckey, A., Odhams, C. A., Walker, S., Russell, C. D., Malinauskas, T., Wu, Y., Millar, J., Shen, X., Elliott, K. S., Griffiths, F., Oosthuyzen, W., Morrice, K., Keating, S., Wang, B., Rhodes, D., Klaric, L., Zechner, M., Parkinson, N., Siddiq, A., Goddard, P., Donovan, S., Maslove, D., Nichol, A., Semple, M. G., Zainy, T., Maleady-Crowe, F., Todd, L., Salehi, S., Knight, J., Elgar, G., Chan, G., Arumugam, P., Patch, C., Rendon, A., Bentley, D., Kingsley, C., Kosmicki, J. A., Horowitz, J. E., Baras, A., Abecasis, G. R., Ferreira, M. A. R., Justice, A., Mirshahi, T., Oetjens, M., Rader, D. J., Ritchie, M. D., Verma, A., Fowler, T. A., Shankar-Hari, M., Summers, C., Hinds, C., Horby, P., Mcauley, D., Montgomery, H., Openshaw, P. J. M., Elliott, P., Walsh, T., Tenesa, A., Fawkes, A., Murphy, L., Rowan, K., Ponting, C. P., Vitart, V., Wilson, J. F., Yang, J., Bretherick, A. D., Scott, R. H., Hendry, S. C., Moutsianas, L., Law, A., Caulfield, M. J., Baillie, J. K., Begg, C., Ling, L., Pereira, A. C., Aravindan, L., Armstrong, R., Biggs, H., Boz, C., Brown, A., Clark, R., Coutts, A., Coyle, J., Cullum, L., Das, S., Day, N., Donnelly, L., Duncan, E., Finernan, P., Fourman, M. H., Furlong, A., Furniss, J., Gallagher, B., Gilchrist, T., Golightly, A., Hafezi, K., Hamilton, D., Hendry, R., Law, D., Law, R., Law, S., Lidstone-Scott, R., Macgillivray, L., Maclean, A., Mal, H., Mccafferty, S., Mcmaster, E., Meikle, J., Moore, S. C., Murphy, S., Hellen, M., Zheng, C., Chen, J., Paterson, T., Schon, K., Stenhouse, A., Das, M., Swets, M., Szoor-McElhinney, H., Taneski, F., Turtle, L., Wackett, T., Ward, M., Weaver, J., Wrobel, N., Arbane, G., Bociek, A., Campos, S., Grau, N., Jones, T. O., Lim, R., Marotti, M., Ostermann, M., Whitton, C., Alldis, Z., Astin-Chamberlain, R., Bibi, F., Biddle, J., Blow, S., Bolton, M., Borra, C., Bowles, R., Burton, M., Choudhury, Y., Collier, D., Cox, A., Easthope, A., Ebano, P., Fotiadis, S., Gurasashvili, J., Halls, R., Hartridge, P., Kallon, D., Kassam, J., Lancoma-Malcolm, I., Matharu, M., May, P., Mitchelmore, O., Newman, T., Patel, M., Pheby, J., Pinzuti, I., Prime, Z., Prysyazhna, O., Shiel, J., Taylor, M., Tierney, C., Wood, S., Zak, A., Zongo, O., Bonner, S., Hugill, K., Jones, J., Liggett, S., Headlam, E., Bandla, N., Gellamucho, M., Davies, M., Thompson, C., Abdelrazik, M., Bakthavatsalam, D., Elhassan, M., Ganesan, A., Haldeos, A., Moreno-Cuesta, J., Purohit, D., Vincent, R., Xavier, K., Kumar, R., Frater, Alessia, Saleem, M., Carter, D., Jenkins, S., Lamond, Z., Wall, A., Fernandez-Roman, J., Hamilton, D. O., Johnson, E., Johnston, B., Martinez Guzman, Maria Loreto, Mulla, S., Shaw, D., Waite, A. A. 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P., Bernardo, D., Rojo, S., Fiz-Lopez, A., Arribas, E., de la Cal-Sabater, P., Segura, T., Gonzalez-Villa, E., Serrano-Heras, G., Marti-Fabregas, J., Jimenez-Xarrie, E., Mimbrera, A. F., Masjuan, J., Garcia-Madrona, S., Dominguez-Mayoral, A., Villalonga, J. M., Menendez-Valladares, P., Chasman, D. I., Buring, J. E., Ridker, P. M., Franco, G., Sesso, H. D., Manson, J. E., Glessner, J. R., Hakonarson, H., Medina-Gomez, C., Uitterlinden, A. G., Ikram, M. A., Kristiansson, K., Koskelainen, S., Perola, M., Donner, K., Kivinen, K., Palotie, A., Ripatti, S., Ruotsalainen, S., Kaunisto, M., Nakanishi, T., Butler-Laporte, G., Forgetta, V., Morrison, D. R., Ghosh, B., Laurent, L., Belisle, A., Henry, D., Abdullah, T., Adeleye, O., Mamlouk, N., Kimchi, N., Afrasiabi, Z., Rezk, N., Vulesevic, B., Bouab, M., Guzman, C., Petitjean, L., Tselios, C., Xue, X., Schurr, E., Afilalo, J., Afilalo, M., Oliveira, M., Brenner, B., Lepage, P., Ragoussis, J., Auld, D., Brassard, N., Durand, M., Chasse, M., Kaufmann, D. E., Lathrop, G. M., Mooser, V., Richards, J. B., Li, R., Adra, D., Rahmouni, S., Georges, M., Moutschen, M., Misset, B., Darcis, G., Guiot, J., Guntz, J., Azarzar, S., Gofflot, S., Beguin, Y., Claassen, S., Malaise, O., Huynen, P., Meuris, C., Thys, M., Jacques, J., Leonar, P., Frippiat, F., Giot, J. -B., Sauvage, A. -S., von Frenckell, C., Belhaj, Y., Lambermont, B., Pigazzini, S., Daya, M., Shortt, J., Rafaels, N., Wicks, S. J., Crooks, K., Barnes, K. C., Gignoux, C. R., Chavan, S., Laisk, T., Lall, K., Lepamets, M., Magi, R., Esko, T., Reimann, E., Milani, Luca, Alavere, H., Metsalu, K., Puusepp, M., Metspalu, A., Naaber, P., Laane, E., Pesukova, J., Peterson, P., Kisand, K., Tabri, J., Allos, R., Hensen, K., Starkopf, J., Ringmets, I., Tamm, A., Kallaste, A., Bochud, P. -Y., Rivolta, C., Bibert, S., Quinodoz, M., Kamdar, D., Boillat, N., Nussle, S. G., Albrich, W., Suh, N., Neofytos, D., Erard, V., Voide, C., de Cid, R., Galvan-Femenia, I., Blay, N., Carreras, A., Cortes, B., Farre, X., Sumoy, L., Moreno, V., Mercader, J. M., Guindo-Martinez, M., Torrents, D., Kogevinas, M., Garcia-Aymerich, J., Castano-Vinyals, G., Dobano, C., Renieri, A., Mari, F., Fallerini, C., Daga, S., Benetti, E., Baldassarri, M., Fava, F., Frullanti, E., Valentino, Francesca, Doddato, G., Giliberti, A., Tita, R., Amitrano, S., Bruttini, M., Croci, S., Meloni, I., Mencarelli, Marta, Rizzo, C. L., Pinto, A. M., Beligni, G., Tommasi, A., Sarno, L. D., Palmieri, Marco, Carriero, M. L., Alaverdian, D., Busani, S., Bruno, R., Vecchia, M., Belli, M. A., Picchiotti, N., Sanarico, M., Gori, Mario, Furini, S., Mantovani, Susanna, Ludovisi, S., Mondelli, M. U., Castelli, F., Quiros-Roldan, E., Antoni, M. D., Zanella, I., Vaghi, M., Rusconi, S., Siano, M., Montagnani, F., Emiliozzi, A., Fabbiani, M., Rossetti, Barbara, Bargagli, E., Bergantini, L., D'Alessandro, Michele, Cameli, P., Bennett, D., Anedda, F., Marcantonio, S., Scolletta, S., Franchi, Francesca, Mazzei, M. A., Guerrini, S., Conticini, E., Cantarini, L., Frediani, B., Tacconi, D., Spertilli, C., Feri, M., Donati, Andrea, Scala, R., Guidelli, L., Spargi, G., Corridi, M., Nencioni, C., Croci, L., Bandini, M., Caldarelli, G. P., Piacentini, P., Desanctis, E., Cappelli, S., Canaccini, A., Verzuri, A., Anemoli, V., Ognibene, A., Pancrazzi, A., Lorubbio, M., Monforte, A. D., Miraglia, F. G., Girardis, M., Venturelli, S., Cossarizza, A., Antinori, Armando, Vergori, A., Gabrieli, A., Riva, A., Francisci, D., Schiaroli, E., Paciosi, F., Scotton, P. G., Andretta, F., Panese, S., Scaggiante, R., Gatti, F., Parisi, S. G., Baratti, S., Monica, M. D., Piscopo, C., Capasso, Monica, Russo, R., Andolfo, I., Iolascon, A., Fiorentino, Giuseppe, Carella, M., Castori, M., Merla, G., Squeo, G. M., Aucella, F., Raggi, P., Marciano, C., Perna, Raffaella, Bassetti, M., Biagio, A. D., Sanguinetti, Maurizio, Masucci, Luca, Valente, S., Mandala, M., Giorli, A., Salerni, L., Zucchi, P., Parravicini, P., Menatti, E., Trotta, T., Giannattasio, F., Coiro, G., Lena, Francesco, Coviello, D. A., Mussini, C., Martinelli, E., Mancarella, S., Tavecchia, L., Crotti, L., Gabbi, Chiara, Rizzi, M., Maggiolo, F., Ripamonti, D., Bachetti, T., Rovere, M. T. L., Sarzi-Braga, S., Bussotti, M., Ceri, S., Pinoli, P., Raimondi, F., Biscarini, F., Stella, A., Zguro, K., Capitani, K., Suardi, C., Dei, S., Parati, G., Ravaglia, S., Artuso, R., Botta, Giovanni, Di Domenico, Pasqualina, Rancan, I., Perrella, A., Bianchi, F., Romani, D., Bergomi, P., Catena, E., Colombo, R., Tanfoni, M., Vincenti, A., Ferri, C., Grassi, D., Pessina, Gloria, Tumbarello, Mario, Di Pietro, Maria Luisa, Sabrina, R., Luchi, S., Barbieri, Cristiano, Acquilini, D., Andreucci, E., Segala, F. V., Tiseo, G., Falcone, M., Lista, Maddalena, Poscente, M., De Vivo, O., Petrocelli, Paolo, Guarnaccia, A., Baroni, S., Smith, A. V., Boughton, A. P., Li, K. W., Lefaive, J., Annis, A., Chittoor, G., Josyula, N. S., Leader, J. B., Carey, D. J., Gass, M. C., Cantor, M. N., Yadav, A., van Heel, D. A., Hunt, K. A., Mason, D., Huang, Q. Q., Finer, S., Trivedi, B., Griffiths, C. J., Martin, H. C., Wright, J., Trembath, R. C., Soranzo, N., Zhao, J. H., Butterworth, A. S., Danesh, J., Di Angelantonio, E., Franke, L., Boezen, M., Deelen, P., Claringbould, A., Lopera, E., Warmerdam, R., Vonk, J. M., van Blokland, I., Lanting, P., Ori, A. P. S., Zollner, S., Wang, J., Beck, A., Peloso, G., Ho, Y. -L., Sun, Y. V., Huffman, J. E., O'Donnell, C. J., Cho, K., Tsao, P., Gaziano, J. M., Nivard, M., de Geus, E., Bartels, M., Hottenga, J. J., Weiss, S. T., Karlson, E. W., Smoller, J. W., Green, R. C., Feng, Y. -C. A., Mercader, J., Murphy, S. N., Meigs, J. B., Woolley, A. E., Perez, E. F., Rader, D., Li, B., Verma, S. S., Lucas, A., Bradford, Y., Zeberg, H., Frithiof, R., Hultstrom, M., Lipcsey, M., Tardif, N., Rooyackers, O., Grip, J., Maricic, T., Karczewski, K. J., Atkinson, E. G., Tsuo, K., Baya, N., Turley, P., Gupta, R., Callier, S., Walters, R. K., Palmer, D. S., Sarma, G., Cheng, N., Lu, W., Bryant, S., Churchhouse, C., Cusick, C., Goldstein, J. I., King, D., Seed, C., Finucane, H., Martin, A. R., Satterstrom, F. K., Wilson, D. J., Armstrong, J., Rudkin, J. K., Band, G., Earle, S. G., Lin, S. -K., Arning, N., Crook, D. W., Wyllie, D. H., O'Connell, A. M., Spencer, C. C. A., Koelling, N., Fowler, T., Pasko, D., Ball, C. A., Hong, E. L., Rand, K., Girshick, A., Guturu, H., Baltzell, A. H., Roberts, G., Park, D., Coignet, M., Mccurdy, S., Knight, S., Partha, R., Rhead, B., Zhang, M., Berkowitz, N., Gaddis, M., Noto, K., Ruiz, L., Pavlovic, M., Sloofman, L. G., Charney, A. W., Beckmann, N. D., Schadt, E. E., Jordan, D. M., Thompson, R. C., Gettler, K., Abul-Husn, N. S., Ascolillo, S., Buxbaum, J. D., Chaudhary, K., Cho, J. H., Itan, Y., Kenny, E. E., Belbin, G. M., Sealfon, S. C., Sebra, R. P., Salib, I., Collins, B. L., Levy, T., Britvan, B., Keller, K., Tang, L., Peruggia, M., Hiester, L. L., Niblo, K., Aksentijevich, A., Labkowsky, A., Karp, A., Zlatopolsky, M., Preuss, M., Loos, R. J. F., Nadkarni, G. N., Do, R., Hoggart, C., Choi, S., Underwood, S. J., O'Reilly, P., Huckins, L. M., Zyndorf, M., Daly, M. J., Neale, B. M., Ganna, A., Frater A., Martinez M. L., Smith J., Ashraf S., Singh J., Kay A., Lorusso R., Ali A., Williams H., Barberis L., Wood D. (ORCID:0000-0001-8588-8931), Latif M., Finn S., Taylor A., Tucci A., Adams E. L., Milani L. (ORCID:0000-0003-0218-458X), Valentino F., Mencarelli M. A., Palmieri M. (ORCID:0000-0001-8263-336X), Gori M., Mantovani S., Rossetti B., D'Alessandro M., Franchi F., Donati A., Antinori A. (ORCID:0000-0002-6019-2417), Capasso M., Fiorentino G., Perna R., Sanguinetti M. (ORCID:0000-0002-9780-7059), Masucci L. (ORCID:0000-0002-8358-6726), Lena F. (ORCID:0000-0001-5528-319X), Gabbi C., Botta G., Di Domenico P., Pessina G., Tumbarello M. (ORCID:0000-0002-9519-8552), Di Pietro M. (ORCID:0000-0002-3893-8788), Barbieri C., Lista M., and Petrocelli P.

Abstract

Critical COVID-19 is caused by immune-mediated inflammatory lung injury. Host genetic variation influences the development of illness requiring critical care1 or hospitalization2–4 after infection with SARS-CoV-2. The GenOMICC (Genetics of Mortality in Critical Care) study enables the comparison of genomes from individuals who are critically ill with those of population controls to find underlying disease mechanisms. Here we use whole-genome sequencing in 7,491 critically ill individuals compared with 48,400 controls to discover and replicate 23 independent variants that significantly predispose to critical COVID-19. We identify 16 new independent associations, including variants within genes that are involved in interferon signalling (IL10RB and PLSCR1), leucocyte differentiation (BCL11A) and blood-type antigen secretor status (FUT2). Using transcriptome-wide association and colocalization to infer the effect of gene expression on disease severity, we find evidence that implicates multiple genes—including reduced expression of a membrane flippase (ATP11A), and increased expression of a mucin (MUC1)—in critical disease. Mendelian randomization provides evidence in support of causal roles for myeloid cell adhesion molecules (SELE, ICAM5 and CD209) and the coagulation factor F8, all of which are potentially druggable targets. Our results are broadly consistent with a multi-component model of COVID-19 pathophysiology, in which at least two distinct mechanisms can predispose to life-threatening disease: failure to control viral replication; or an enhanced tendency towards pulmonary inflammation and intravascular coagulation. We show that comparison between cases of critical illness and population controls is highly efficient for the detection of therapeutically relevant mechanisms of disease.

Published
2022

221. An explainable model of host genetic interactions linked to COVID-19 severity

Author

Onoja, A., Picchiotti, N., Fallerini, C., Baldassarri, M., Fava, F., Mari, F., Daga, S., Benetti, E., Bruttini, M., Palmieri, Marco, Croci, S., Amitrano, S., Meloni, I., Frullanti, E., Doddato, G., Lista, Maddalena, Beligni, G., Valentino, Francesca, Zguro, K., Tita, R., Giliberti, A., Mencarelli, Marta, Rizzo, C. L., Pinto, A. M., Ariani, F., Di Sarno, Lorenzo, Montagnani, F., Tumbarello, Mario, Rancan, I., Fabbiani, M., Rossetti, Barbara, Bergantini, L., D'Alessandro, Michele, Cameli, P., Bennett, D., Anedda, F., Marcantonio, S., Scolletta, S., Franchi, Francesca, Mazzei, M. A., Guerrini, S., Conticini, E., Cantarini, L., Frediani, B., Tacconi, D., Raffaelli, C. S., Feri, M., Donati, Andrea, Scala, R., Guidelli, L., Spargi, G., Corridi, M., Nencioni, C., Croci, L., Caldarelli, G. P., Romani, D., Piacentini, P., Bandini, M., Desanctis, E., Cappelli, S., Canaccini, A., Verzuri, A., Anemoli, V., Pisani, M., Ognibene, A., Pancrazzi, A., Lorubbio, M., Vaghi, M., D'Arminio Monforte, A., Miraglia, F. G., Bruno, R., Vecchia, M., Girardis, M., Venturelli, S., Busani, S., Cossarizza, A., Antinori, Armando, Vergori, A., Emiliozzi, A., Rusconi, S., Siano, M., Gabrieli, A., Riva, A., Francisci, D., Schiaroli, E., Paciosi, F., Tommasi, A., Zuccon, U., Vietri, L., Scotton, P. G., Andretta, F., Panese, S., Baratti, S., Scaggiante, R., Gatti, F., Parisi, S. G., Castelli, F., Quiros-Roldan, E., Antoni, M. D., Zanella, I., Della Monica, M., Piscopo, C., Capasso, Monica, Russo, R., Andolfo, I., Iolascon, A., Fiorentino, Giuseppe, Carella, M., Castori, M., Aucella, F., Raggi, P., Perna, Raffaella, Bassetti, M., Di Biagio, Anna, Sanguinetti, Maurizio, Masucci, Luca, Guarnaccia, A., Valente, S., De Vivo, O., Bargagli, E., Mandala, M., Giorli, A., Salerni, L., Zucchi, P., Parravicini, P., Menatti, E., Trotta, T., Giannattasio, F., Coiro, G., Lena, Francesco, Lacerenza, G., Coviello, D. A., Mussini, C., Martinelli, E., Tavecchia, L., Belli, M. A., Crotti, L., Parati, G., Sanarico, M., Biscarini, F., Stella, A., Rizzi, M., Maggiolo, F., Ripamonti, D., Suardi, C., Bachetti, T., La Rovere, M. T., Sarzi-Braga, S., Bussotti, M., Capitani, K., Dei, S., Ravaglia, S., Artuso, R., Andreucci, E., Gori, Giovanni Cristiano, Pagliazzi, A., Fiorentini, E., Perrella, A., Bianchi, F., Bergomi, P., Catena, E., Colombo, R., Luchi, S., Morelli, G., Petrocelli, Paolo, Iacopini, S., Modica, S., Baroni, Silvia, Segala, F. V., Menichetti, F., Falcone, M., Tiseo, G., Barbieri, Cristiano, Matucci, T., Grassi, D., Ferri, C., Marinangeli, F., Brancati, F., Vincenti, A., Borgo, V., Lombardi, S., Lenzi, M., Di Pietro, Maria Luisa, Vichi, F., Romanin, B., Attala, L., Costa, C., Gabbuti, A., Mene, R., Colaneri, M., Casprini, P., Merla, G., Squeo, G. M., Maffezzoni, M., Mantovani, Susanna, Mondelli, M. U., Ludovisi, S., Colombo, F., Chiaromonte, F., Renieri, A., Furini, S., Raimondi, F., Palmieri M. (ORCID:0000-0001-8263-336X), Lista M., Valentino F., Mencarelli M. A., Di Sarno L., Tumbarello M. (ORCID:0000-0002-9519-8552), Rossetti B., D'Alessandro M., Franchi F., Donati A., Antinori A. (ORCID:0000-0002-6019-2417), Capasso M., Fiorentino G., Perna R., Di Biagio A., Sanguinetti M. (ORCID:0000-0002-9780-7059), Masucci L. (ORCID:0000-0002-8358-6726), Lena F. (ORCID:0000-0001-5528-319X), Gori G. (ORCID:0000-0002-3308-5309), Petrocelli P., Barbieri C., Di Pietro M. A. (ORCID:0000-0002-3893-8788), Mantovani S., Onoja, A., Picchiotti, N., Fallerini, C., Baldassarri, M., Fava, F., Mari, F., Daga, S., Benetti, E., Bruttini, M., Palmieri, Marco, Croci, S., Amitrano, S., Meloni, I., Frullanti, E., Doddato, G., Lista, Maddalena, Beligni, G., Valentino, Francesca, Zguro, K., Tita, R., Giliberti, A., Mencarelli, Marta, Rizzo, C. L., Pinto, A. M., Ariani, F., Di Sarno, Lorenzo, Montagnani, F., Tumbarello, Mario, Rancan, I., Fabbiani, M., Rossetti, Barbara, Bergantini, L., D'Alessandro, Michele, Cameli, P., Bennett, D., Anedda, F., Marcantonio, S., Scolletta, S., Franchi, Francesca, Mazzei, M. A., Guerrini, S., Conticini, E., Cantarini, L., Frediani, B., Tacconi, D., Raffaelli, C. S., Feri, M., Donati, Andrea, Scala, R., Guidelli, L., Spargi, G., Corridi, M., Nencioni, C., Croci, L., Caldarelli, G. P., Romani, D., Piacentini, P., Bandini, M., Desanctis, E., Cappelli, S., Canaccini, A., Verzuri, A., Anemoli, V., Pisani, M., Ognibene, A., Pancrazzi, A., Lorubbio, M., Vaghi, M., D'Arminio Monforte, A., Miraglia, F. G., Bruno, R., Vecchia, M., Girardis, M., Venturelli, S., Busani, S., Cossarizza, A., Antinori, Armando, Vergori, A., Emiliozzi, A., Rusconi, S., Siano, M., Gabrieli, A., Riva, A., Francisci, D., Schiaroli, E., Paciosi, F., Tommasi, A., Zuccon, U., Vietri, L., Scotton, P. G., Andretta, F., Panese, S., Baratti, S., Scaggiante, R., Gatti, F., Parisi, S. G., Castelli, F., Quiros-Roldan, E., Antoni, M. D., Zanella, I., Della Monica, M., Piscopo, C., Capasso, Monica, Russo, R., Andolfo, I., Iolascon, A., Fiorentino, Giuseppe, Carella, M., Castori, M., Aucella, F., Raggi, P., Perna, Raffaella, Bassetti, M., Di Biagio, Anna, Sanguinetti, Maurizio, Masucci, Luca, Guarnaccia, A., Valente, S., De Vivo, O., Bargagli, E., Mandala, M., Giorli, A., Salerni, L., Zucchi, P., Parravicini, P., Menatti, E., Trotta, T., Giannattasio, F., Coiro, G., Lena, Francesco, Lacerenza, G., Coviello, D. A., Mussini, C., Martinelli, E., Tavecchia, L., Belli, M. A., Crotti, L., Parati, G., Sanarico, M., Biscarini, F., Stella, A., Rizzi, M., Maggiolo, F., Ripamonti, D., Suardi, C., Bachetti, T., La Rovere, M. T., Sarzi-Braga, S., Bussotti, M., Capitani, K., Dei, S., Ravaglia, S., Artuso, R., Andreucci, E., Gori, Giovanni Cristiano, Pagliazzi, A., Fiorentini, E., Perrella, A., Bianchi, F., Bergomi, P., Catena, E., Colombo, R., Luchi, S., Morelli, G., Petrocelli, Paolo, Iacopini, S., Modica, S., Baroni, Silvia, Segala, F. V., Menichetti, F., Falcone, M., Tiseo, G., Barbieri, Cristiano, Matucci, T., Grassi, D., Ferri, C., Marinangeli, F., Brancati, F., Vincenti, A., Borgo, V., Lombardi, S., Lenzi, M., Di Pietro, Maria Luisa, Vichi, F., Romanin, B., Attala, L., Costa, C., Gabbuti, A., Mene, R., Colaneri, M., Casprini, P., Merla, G., Squeo, G. M., Maffezzoni, M., Mantovani, Susanna, Mondelli, M. U., Ludovisi, S., Colombo, F., Chiaromonte, F., Renieri, A., Furini, S., Raimondi, F., Palmieri M. (ORCID:0000-0001-8263-336X), Lista M., Valentino F., Mencarelli M. A., Di Sarno L., Tumbarello M. (ORCID:0000-0002-9519-8552), Rossetti B., D'Alessandro M., Franchi F., Donati A., Antinori A. (ORCID:0000-0002-6019-2417), Capasso M., Fiorentino G., Perna R., Di Biagio A., Sanguinetti M. (ORCID:0000-0002-9780-7059), Masucci L. (ORCID:0000-0002-8358-6726), Lena F. (ORCID:0000-0001-5528-319X), Gori G. (ORCID:0000-0002-3308-5309), Petrocelli P., Barbieri C., Di Pietro M. A. (ORCID:0000-0002-3893-8788), and Mantovani S.

Abstract

We employed a multifaceted computational strategy to identify the genetic factors contributing to increased risk of severe COVID-19 infection from a Whole Exome Sequencing (WES) dataset of a cohort of 2000 Italian patients. We coupled a stratified k-fold screening, to rank variants more associated with severity, with the training of multiple supervised classifiers, to predict severity based on screened features. Feature importance analysis from tree-based models allowed us to identify 16 variants with the highest support which, together with age and gender covariates, were found to be most predictive of COVID-19 severity. When tested on a follow-up cohort, our ensemble of models predicted severity with high accuracy (ACC = 81.88%; AUCROC = 96%; MCC = 61.55%). Our model recapitulated a vast literature of emerging molecular mechanisms and genetic factors linked to COVID-19 response and extends previous landmark Genome-Wide Association Studies (GWAS). It revealed a network of interplaying genetic signatures converging on established immune system and inflammatory processes linked to viral infection response. It also identified additional processes cross-talking with immune pathways, such as GPCR signaling, which might offer additional opportunities for therapeutic intervention and patient stratification. Publicly available PheWAS datasets revealed that several variants were significantly associated with phenotypic traits such as “Respiratory or thoracic disease”, supporting their link with COVID-19 severity outcome.

Published
2022

222. An explainable model of host genetic interactions linked to COVID-19 severity

Author

Anthony, O, Nicola, P, Chiara, F, Margherita, B, Francesca, F, Francesca, C, Alessandra, R, Simone, F, Francesco, R, Mari, F, Daga, S, Benetti, E, Bruttini, M, Palmieri, M, Croci, S, Amitrano, S, Meloni, I, Frullanti, E, Doddato, G, Lista, M, Beligni, G, Valentino, F, Zguro, K, Tita, R, Giliberti, A, Antonietta Mencarelli, M, Lo Rizzo, C, Maria Pinto, A, Ariani, F, Di Sarno, L, Montagnani, F, Tumbarello, M, Rancan, I, Fabbiani, M, Rossetti, B, Bergantini, L, D’Alessandro, M, Cameli, P, Bennett, D, Anedda, F, Marcantonio, S, Scolletta, S, Franchi, F, Antonietta Mazzei, M, Guerrini, S, Conticini, E, Cantarini, L, Frediani, B, Tacconi, D, Spertilli Raffaelli, C, Feri, M, Donati, A, Scala, R, Guidelli, L, Spargi, G, Corridi, M, Nencioni, C, Croci, L, Piero Caldarelli, G, Romani, D, Piacentini, P, Bandini, M, Desanctis, E, Cappelli, S, Canaccini, A, Verzuri, A, Anemoli, V, Pisani, M, Ognibene, A, Pancrazzi, A, Lorubbio, M, Vaghi, M, D’Arminio Monforte, A, Gaia Miraglia, F, Bruno, R, Vecchia, M, Girardis, M, Venturelli, S, Busani, S, Cossarizza, A, Antinori, A, Vergori, A, Emiliozzi, A, Rusconi, S, Siano, M, Gabrieli, A, Riva, A, Francisci, D, Schiaroli, E, Paciosi, F, Tommasi, A, Zuccon, U, Vietri, L, Giorgio Scotton, P, Andretta, F, Panese, S, Baratti, S, Scaggiante, R, Gatti, F, Giuseppe Parisi, S, Castelli, F, Quiros-Roldan, E, Degli Antoni, M, Zanella, I, Della Monica, M, Piscopo, C, Capasso, M, Russo, R, Andolfo, I, Iolascon, A, Fiorentino, G, Carella, M, Castori, M, Aucella, F, Raggi, P, Perna, R, Bassetti, M, Di Biagio, A, Sanguinetti, M, Masucci, L, Guarnaccia, A, Valente, S, De Vivo, O, Bargagli, E, Mandalà, M, Giorli, A, Salerni, L, Zucchi, P, Parravicini, P, Menatti, E, Trotta, T, Giannattasio, F, Coiro, G, Lena, F, Lacerenza, G, Coviello, D, Mussini, C, Martinelli, E, Tavecchia, L, Ann Belli, M, Crotti, L, Parati, G, Sanarico, M, Biscarini, F, Stella, A, Rizzi, M, Maggiolo, F, Ripamonti, D, Suardi, C, Bachetti, T, Teresa La Rovere, M, Sarzi-Braga, S, Bussotti, M, Capitani, K, Dei, S, Ravaglia, S, Artuso, R, Andreucci, E, Gori, G, Pagliazzi, A, Fiorentini, E, Perrella, A, Bianchi, F, Bergomi, P, Catena, E, Colombo, R, Luchi, S, Morelli, G, Petrocelli, P, Iacopini, S, Modica, S, Baroni, S, Vladimiro Segala, F, Menichetti, F, Falcone, M, Tiseo, G, Barbieri, C, Matucci, T, Grassi, D, Ferri, C, Marinangeli, F, Brancati, F, Vincenti, A, Borgo, V, Lombardi, S, Lenzi, M, Antonio Di Pietro, M, Vichi, F, Romanin, B, Attala, L, Costa, C, Gabbuti, A, Menè, R, Colaneri, M, Casprini, P, Merla, G, Maria Squeo, G, Maffezzoni, M, Mantovani, S, Mondelli &amp, M, Ludovisi, S, Onoja, Anthony, Picchiotti, Nicola, Fallerini, Chiara, Baldassarri, Margherita, Fava, Francesca, Colombo, Francesca, Chiaromonte, Francesca, Renieri, Alessandra, Furini, Simone, Raimondi Francesco, Francesca Mari, Sergio Daga, Elisa Benetti, Mirella Bruttini, Maria Palmieri, Susanna Croci, Sara Amitrano, Ilaria Meloni, Elisa Frullanti, Gabriella Doddato, Mirjam Lista, Giada Beligni, Floriana Valentino, Kristina Zguro, Rossella Tita, Annarita Giliberti, Maria Antonietta Mencarelli, Caterina Lo Rizzo, Anna Maria Pinto, Francesca Ariani, Laura Di Sarno, Francesca Montagnani, Mario Tumbarello, Ilaria Rancan, Massimiliano Fabbiani, Barbara Rossetti, Laura Bergantini, Miriana D’Alessandro, Paolo Cameli, David Bennett, Federico Anedda, Simona Marcantonio, Sabino Scolletta, Federico Franchi, Maria Antonietta Mazzei, Susanna Guerrini, Edoardo Conticini, Luca Cantarini, Bruno Frediani, Danilo Tacconi, Chiara Spertilli Raffaelli, Marco Feri, Alice Donati, Raffaele Scala, Luca Guidelli, Genni Spargi, Marta Corridi, Cesira Nencioni, Leonardo Croci, Gian Piero Caldarelli, Davide Romani, Paolo Piacentini, Maria Bandini, Elena Desanctis, Silvia Cappelli, Anna Canaccini, Agnese Verzuri, Valentina Anemoli, Manola Pisani, Agostino Ognibene, Alessandro Pancrazzi, Maria Lorubbio, Massimo Vaghi, Antonella D’Arminio Monforte, Federica Gaia Miraglia, Raffaele Bruno, Marco Vecchia, Massimo Girardis, Sophie Venturelli, Stefano Busani, Andrea Cossarizza, Andrea Antinori, Alessandra Vergori, Arianna Emiliozzi, Stefano Rusconi, Matteo Siano, Arianna Gabrieli, Agostino Riva, Daniela Francisci, Elisabetta Schiaroli, Francesco Paciosi, Andrea Tommasi, Umberto Zuccon, Lucia Vietri, Pier Giorgio Scotton, Francesca Andretta, Sandro Panese, Stefano Baratti, Renzo Scaggiante, Francesca Gatti, Saverio Giuseppe Parisi, Francesco Castelli, Eugenia Quiros-Roldan, Melania Degli Antoni, Isabella Zanella, Matteo Della Monica, Carmelo Piscopo, Mario Capasso, Roberta Russo, Immacolata Andolfo, Achille Iolascon, Giuseppe Fiorentino, Massimo Carella, Marco Castori, Filippo Aucella, Pamela Raggi, Rita Perna, Matteo Bassetti, Antonio Di Biagio, Maurizio Sanguinetti, Luca Masucci, Alessandra Guarnaccia, Serafina Valente, Oreste De Vivo, Elena Bargagli, Marco Mandalà, Alessia Giorli, Lorenzo Salerni, Patrizia Zucchi, Pierpaolo Parravicini, Elisabetta Menatti, Tullio Trotta, Ferdinando Giannattasio, Gabriella Coiro, Fabio Lena, Gianluca Lacerenza, Domenico A. Coviello, Cristina Mussini, Enrico Martinelli, Luisa Tavecchia, Mary Ann Belli, Lia Crotti, Gianfranco Parati, Maurizio Sanarico, Filippo Biscarini, Alessandra Stella, Marco Rizzi, Franco Maggiolo, Diego Ripamonti, Claudia Suardi, Tiziana Bachetti, Maria Teresa La Rovere, Simona Sarzi-Braga, Maurizio Bussotti, Katia Capitani, Simona Dei, Sabrina Ravaglia, Rosangela Artuso, Elena Andreucci, Giulia Gori, Angelica Pagliazzi, Erika Fiorentini, Antonio Perrella, Francesco Bianchi, Paola Bergomi, Emanuele Catena, Riccardo Colombo, Sauro Luchi, Giovanna Morelli, Paola Petrocelli, Sarah Iacopini, Sara Modica, Silvia Baroni, Francesco Vladimiro Segala, Francesco Menichetti, Marco Falcone, Giusy Tiseo, Chiara Barbieri, Tommaso Matucci, Davide Grassi, Claudio Ferri, Franco Marinangeli, Francesco Brancati, Antonella Vincenti, Valentina Borgo, Stefania Lombardi, Mirco Lenzi, Massimo Antonio Di Pietro, Francesca Vichi, Benedetta Romanin, Letizia Attala, Cecilia Costa, Andrea Gabbuti, Roberto Menè, Marta Colaneri, Patrizia Casprini, Giuseppe Merla, Gabriella Maria Squeo, Marcello Maffezzoni, Stefania Mantovani, Mario U. Mondelli &, Serena Ludovisi, Anthony, O, Nicola, P, Chiara, F, Margherita, B, Francesca, F, Francesca, C, Alessandra, R, Simone, F, Francesco, R, Mari, F, Daga, S, Benetti, E, Bruttini, M, Palmieri, M, Croci, S, Amitrano, S, Meloni, I, Frullanti, E, Doddato, G, Lista, M, Beligni, G, Valentino, F, Zguro, K, Tita, R, Giliberti, A, Antonietta Mencarelli, M, Lo Rizzo, C, Maria Pinto, A, Ariani, F, Di Sarno, L, Montagnani, F, Tumbarello, M, Rancan, I, Fabbiani, M, Rossetti, B, Bergantini, L, D’Alessandro, M, Cameli, P, Bennett, D, Anedda, F, Marcantonio, S, Scolletta, S, Franchi, F, Antonietta Mazzei, M, Guerrini, S, Conticini, E, Cantarini, L, Frediani, B, Tacconi, D, Spertilli Raffaelli, C, Feri, M, Donati, A, Scala, R, Guidelli, L, Spargi, G, Corridi, M, Nencioni, C, Croci, L, Piero Caldarelli, G, Romani, D, Piacentini, P, Bandini, M, Desanctis, E, Cappelli, S, Canaccini, A, Verzuri, A, Anemoli, V, Pisani, M, Ognibene, A, Pancrazzi, A, Lorubbio, M, Vaghi, M, D’Arminio Monforte, A, Gaia Miraglia, F, Bruno, R, Vecchia, M, Girardis, M, Venturelli, S, Busani, S, Cossarizza, A, Antinori, A, Vergori, A, Emiliozzi, A, Rusconi, S, Siano, M, Gabrieli, A, Riva, A, Francisci, D, Schiaroli, E, Paciosi, F, Tommasi, A, Zuccon, U, Vietri, L, Giorgio Scotton, P, Andretta, F, Panese, S, Baratti, S, Scaggiante, R, Gatti, F, Giuseppe Parisi, S, Castelli, F, Quiros-Roldan, E, Degli Antoni, M, Zanella, I, Della Monica, M, Piscopo, C, Capasso, M, Russo, R, Andolfo, I, Iolascon, A, Fiorentino, G, Carella, M, Castori, M, Aucella, F, Raggi, P, Perna, R, Bassetti, M, Di Biagio, A, Sanguinetti, M, Masucci, L, Guarnaccia, A, Valente, S, De Vivo, O, Bargagli, E, Mandalà, M, Giorli, A, Salerni, L, Zucchi, P, Parravicini, P, Menatti, E, Trotta, T, Giannattasio, F, Coiro, G, Lena, F, Lacerenza, G, Coviello, D, Mussini, C, Martinelli, E, Tavecchia, L, Ann Belli, M, Crotti, L, Parati, G, Sanarico, M, Biscarini, F, Stella, A, Rizzi, M, Maggiolo, F, Ripamonti, D, Suardi, C, Bachetti, T, Teresa La Rovere, M, Sarzi-Braga, S, Bussotti, M, Capitani, K, Dei, S, Ravaglia, S, Artuso, R, Andreucci, E, Gori, G, Pagliazzi, A, Fiorentini, E, Perrella, A, Bianchi, F, Bergomi, P, Catena, E, Colombo, R, Luchi, S, Morelli, G, Petrocelli, P, Iacopini, S, Modica, S, Baroni, S, Vladimiro Segala, F, Menichetti, F, Falcone, M, Tiseo, G, Barbieri, C, Matucci, T, Grassi, D, Ferri, C, Marinangeli, F, Brancati, F, Vincenti, A, Borgo, V, Lombardi, S, Lenzi, M, Antonio Di Pietro, M, Vichi, F, Romanin, B, Attala, L, Costa, C, Gabbuti, A, Menè, R, Colaneri, M, Casprini, P, Merla, G, Maria Squeo, G, Maffezzoni, M, Mantovani, S, Mondelli &amp, M, Ludovisi, S, Onoja, Anthony, Picchiotti, Nicola, Fallerini, Chiara, Baldassarri, Margherita, Fava, Francesca, Colombo, Francesca, Chiaromonte, Francesca, Renieri, Alessandra, Furini, Simone, Raimondi Francesco, Francesca Mari, Sergio Daga, Elisa Benetti, Mirella Bruttini, Maria Palmieri, Susanna Croci, Sara Amitrano, Ilaria Meloni, Elisa Frullanti, Gabriella Doddato, Mirjam Lista, Giada Beligni, Floriana Valentino, Kristina Zguro, Rossella Tita, Annarita Giliberti, Maria Antonietta Mencarelli, Caterina Lo Rizzo, Anna Maria Pinto, Francesca Ariani, Laura Di Sarno, Francesca Montagnani, Mario Tumbarello, Ilaria Rancan, Massimiliano Fabbiani, Barbara Rossetti, Laura Bergantini, Miriana D’Alessandro, Paolo Cameli, David Bennett, Federico Anedda, Simona Marcantonio, Sabino Scolletta, Federico Franchi, Maria Antonietta Mazzei, Susanna Guerrini, Edoardo Conticini, Luca Cantarini, Bruno Frediani, Danilo Tacconi, Chiara Spertilli Raffaelli, Marco Feri, Alice Donati, Raffaele Scala, Luca Guidelli, Genni Spargi, Marta Corridi, Cesira Nencioni, Leonardo Croci, Gian Piero Caldarelli, Davide Romani, Paolo Piacentini, Maria Bandini, Elena Desanctis, Silvia Cappelli, Anna Canaccini, Agnese Verzuri, Valentina Anemoli, Manola Pisani, Agostino Ognibene, Alessandro Pancrazzi, Maria Lorubbio, Massimo Vaghi, Antonella D’Arminio Monforte, Federica Gaia Miraglia, Raffaele Bruno, Marco Vecchia, Massimo Girardis, Sophie Venturelli, Stefano Busani, Andrea Cossarizza, Andrea Antinori, Alessandra Vergori, Arianna Emiliozzi, Stefano Rusconi, Matteo Siano, Arianna Gabrieli, Agostino Riva, Daniela Francisci, Elisabetta Schiaroli, Francesco Paciosi, Andrea Tommasi, Umberto Zuccon, Lucia Vietri, Pier Giorgio Scotton, Francesca Andretta, Sandro Panese, Stefano Baratti, Renzo Scaggiante, Francesca Gatti, Saverio Giuseppe Parisi, Francesco Castelli, Eugenia Quiros-Roldan, Melania Degli Antoni, Isabella Zanella, Matteo Della Monica, Carmelo Piscopo, Mario Capasso, Roberta Russo, Immacolata Andolfo, Achille Iolascon, Giuseppe Fiorentino, Massimo Carella, Marco Castori, Filippo Aucella, Pamela Raggi, Rita Perna, Matteo Bassetti, Antonio Di Biagio, Maurizio Sanguinetti, Luca Masucci, Alessandra Guarnaccia, Serafina Valente, Oreste De Vivo, Elena Bargagli, Marco Mandalà, Alessia Giorli, Lorenzo Salerni, Patrizia Zucchi, Pierpaolo Parravicini, Elisabetta Menatti, Tullio Trotta, Ferdinando Giannattasio, Gabriella Coiro, Fabio Lena, Gianluca Lacerenza, Domenico A. Coviello, Cristina Mussini, Enrico Martinelli, Luisa Tavecchia, Mary Ann Belli, Lia Crotti, Gianfranco Parati, Maurizio Sanarico, Filippo Biscarini, Alessandra Stella, Marco Rizzi, Franco Maggiolo, Diego Ripamonti, Claudia Suardi, Tiziana Bachetti, Maria Teresa La Rovere, Simona Sarzi-Braga, Maurizio Bussotti, Katia Capitani, Simona Dei, Sabrina Ravaglia, Rosangela Artuso, Elena Andreucci, Giulia Gori, Angelica Pagliazzi, Erika Fiorentini, Antonio Perrella, Francesco Bianchi, Paola Bergomi, Emanuele Catena, Riccardo Colombo, Sauro Luchi, Giovanna Morelli, Paola Petrocelli, Sarah Iacopini, Sara Modica, Silvia Baroni, Francesco Vladimiro Segala, Francesco Menichetti, Marco Falcone, Giusy Tiseo, Chiara Barbieri, Tommaso Matucci, Davide Grassi, Claudio Ferri, Franco Marinangeli, Francesco Brancati, Antonella Vincenti, Valentina Borgo, Stefania Lombardi, Mirco Lenzi, Massimo Antonio Di Pietro, Francesca Vichi, Benedetta Romanin, Letizia Attala, Cecilia Costa, Andrea Gabbuti, Roberto Menè, Marta Colaneri, Patrizia Casprini, Giuseppe Merla, Gabriella Maria Squeo, Marcello Maffezzoni, Stefania Mantovani, Mario U. Mondelli &, and Serena Ludovisi

Abstract

We employed a multifaceted computational strategy to identify the genetic factors contributing to increased risk of severe COVID-19 infection from a Whole Exome Sequencing (WES) dataset of a cohort of 2000 Italian patients. We coupled a stratified k-fold screening, to rank variants more associated with severity, with the training of multiple supervised classifiers, to predict severity based on screened features. Feature importance analysis from tree-based models allowed us to identify 16 variants with the highest support which, together with age and gender covariates, were found to be most predictive of COVID-19 severity. When tested on a follow-up cohort, our ensemble of models predicted severity with high accuracy (ACC = 81.88%; AUCROC = 96%; MCC = 61.55%). Our model recapitulated a vast literature of emerging molecular mechanisms and genetic factors linked to COVID-19 response and extends previous landmark Genome-Wide Association Studies (GWAS). It revealed a network of interplaying genetic signatures converging on established immune system and inflammatory processes linked to viral infection response. It also identified additional processes cross-talking with immune pathways, such as GPCR signaling, which might offer additional opportunities for therapeutic intervention and patient stratification. Publicly available PheWAS datasets revealed that several variants were significantly associated with phenotypic traits such as “Respiratory or thoracic disease”, supporting their link with COVID-19 severity outcome.

Published
2022

225. Multi-Center Follow-up Study to Develop a Classification System Which Differentiates Mucinous Cystic Neoplasm of the Liver and Benign Hepatic Cyst Using Machine Learning

Author

Robert Petrocelli, James H. Boyum, Cristina H. Hajdu, Sudhakar K. Venkatesh, Smitha Mruthyunjayappa, Mark D. Kovacs, Kedar G Sharbidre, Mohd Zahid, Jordan Chamberlin, Andrew D. Hardie, and Brian Flemming

Subjects
Cysts, business.industry, Liver Diseases, Follow up studies, Nodule (medicine), Machine learning, computer.software_genre, Cystic Neoplasm, Cohort Studies, Machine Learning, Pancreatic Neoplasms, Clinical Practice, Lesion, Cystic lesion, Liver, medicine, Humans, Radiology, Nuclear Medicine and imaging, Artificial intelligence, Hepatic Cyst, medicine.symptom, business, Liver cysts, computer, Follow-Up Studies
Abstract

Rationale and Objectives To date, no clinically useful classification system has been developed for reliably differentiating mucinous cystic neoplasm (MCN) from a benign hepatic cyst (BHC) in the liver. The objective was to use machine learning and a multi-center study design to develop and assess the performance of a novel classification system for predicting whether a hepatic cystic lesion represents MCN or BHC. Materials and Methods A multi-center cohort study identified 154 surgically resected hepatic cystic lesions in 154 subjects which were pathologic confirmed as MCN (43) or BHC (111). Readers at each institution recorded seven pre-determined imaging features previously identified as potential differentiating features from prior publications. The contribution of each of these features to differentiating MCN from BHC was assessed by machine learning to develop an optimal classification system. Results Although several of the assessed imaging features demonstrated statistical significance, only 3 imaging features were found by machine learning to significantly contribute to a potential classification system: (1) solid enhancing nodule (2) all septations arising from an external macro-lobulation (3) whether the lesion was solitary or one of multiple cystic liver lesions. The optimal classification system had only four categories and correctly identified 144/154 lesion (93.5%). Conclusion This multi-center follow-up study was able to use machine learning to develop a highly accurate classification system for differentiation of hepatic MCN from BHC, which could be readily applied to clinical practice.

Published
2022
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226. Crohn’s disease active inflammation assessment with iodine density from dual-energy CT enterography: comparison with endoscopy and conventional interpretation

Author

Bari Dane, Amelia Kernizan, Thomas O’Donnell, Robert Petrocelli, Wendy Rabbenou, Sumona Bhattacharya, Shannon Chang, and Alec Megibow

Subjects
Inflammation, Male, Radiological and Ultrasound Technology, Urology, Gastroenterology, Contrast Media, Middle Aged, Endoscopy, Gastrointestinal, Crohn Disease, Humans, Radiology, Nuclear Medicine and imaging, Tomography, X-Ray Computed, Iodine, Retrospective Studies
Abstract

To compare terminal ileum (TI) mucosal iodine density obtained at dual-energy CT enterography (DECTE) with conventional CT interpretation and endoscopy in patients with Crohn's disease (CD).Twenty-three CD patients (14 men; mean[SD] age:48.1[16.7] years) with endoscopy within 30 days of DECTE were retrospectively identified. An inflammatory bowel disease gastroenterologist reviewed endoscopic images. Two radiologists qualitatively assessed the presence of active TI inflammation. Mean iodine density normalized to the aorta (I%), mean absolute iodine density (I), and iodine density standard deviation (ITwelve (52.1%) patients had endoscopic active inflammation. I% was 37.9[13.3]% for patients with and 21.7[7.5]% for patients without endoscopic active inflammation (p = 0.001). The optimal ROC threshold 24.6% had 100% sensitivity and 81.8% specificity (AUC = 0.909, 95% CI 0.777-1). I was 2.44[0.73]mg/mL for patients with and 1.77[1.00]mg/mL for patients without active endoscopic inflammation (p = 0.0455). The optimal ROC threshold 1.78 mg/mL I had 91.7% sensitivity and 63.6% specificity (AUC = 0.75, 95% CI 0.532-0.968). IMean normalized iodine density is highly sensitive and specific for endoscopic active inflammation. DECTE could be considered as a surrogate to endoscopy in CD patients. Despite trends towards improved sensitivity and specificity compared with conventional interpretation, future larger studies are needed.

Published
2022
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227. Bad splits in bilateral sagittal split osteotomy: A retrospective comparative analysis of the use of different tools

Author

Giovanni Salzano, Giovanni Audino, Marco Friscia, Luigi Angelo Vaira, Andrea Biglio, Fabio Maglitto, Umberto Committeri, Pasquale Piombino, Paola Bonavolontà, Marzia Petrocelli, Stefania Perrotta, and Luigi Califano

Subjects
Otorhinolaryngology, Osteotomy, Sagittal Split Ramus, Humans, Surgery, Mandible, Piezosurgery, Oral Surgery, Retrospective Studies
Abstract

This study aims to analyse the relationship between the incidence of bad splits and the surgical tools adopteded to perform bilateral sagittal split ramus osteotomy (BSSRO).BSSROs performed by the same experienced surgeon period were reviewed, retrospectively. The patients were divided into three groups according to the surgical instrument used to perform the osteotomy: a Lindemann burr, reciprocating saw or piezosurgery. Among the 1120 BSSROs performed, 5 bad fractures were detected during the observation period: 3 among patients operated with the Lindemann burr (0.8%) and 2 among those operated with a reciprocating saw (0.5%). There was no significant correlation between the bad split rate and age and gender of the patients, the type of malocclusion or the type of instrument used to perform the osteotomy. Within the limitations of the study it seems that the the choice of the osteotomy tool for BSSRO does not influence the rate of bad fractures and, therefore, the selection of the osteotmy tool should be left to the discretion of the surgeon.

Published
2022
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233. World Federation of Interventional and Therapeutic Neuroradiology (WFITN) Federation Assembly neurointerventional surgery safety checklist

Author

Chen, Michael, primary, Fargen, Kyle M, additional, Mocco, J, additional, Siddiqui, Adnan H, additional, Miyachi, Shigeru, additional, Mahadevan, Jeyaledchumy, additional, Na Ayudya, Sirintara Singhara, additional, Churojana, Anchalee, additional, Chryssidis, Steve, additional, De Villiers, Laetitia, additional, Rahman, Mohibur, additional, Dey, Subash Kanti, additional, Zhang, Hongqi, additional, Wang, Donghai, additional, Petrocelli, Sergio, additional, Garbugino, Silvia, additional, Kulcsar, Zsolt, additional, Januel, Anne, additional, Kocer, Naci, additional, Manfre, Luigi, additional, Tanaka, Michihiro, additional, Matsumaru, Yuji, additional, Suh, Sang Hyun, additional, Yoon, Woong, additional, de Freitas, Carlos, additional, Mont’Alverne, Francisco, additional, Desal, Hubert, additional, Caroff, Jildaz, additional, Lee, Wickly, additional, Anil, Gopinathan, additional, Harrichandparsad, Rohen, additional, LeFeuvre, David, additional, Agid, Ronit, additional, Orbach, Darren B, additional, and Taylor, Allan, additional

Published
2023
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234. Tecnologías remotas no invasivas utilizadas durante la pandemia covid-19 como apoyo en el proceso de registro de señales cardiorrespiratorias

Author

Estrada Petrocelli, Luis, Sánchez, José, Gómez, Ramiro, Estrada Petrocelli, Luis, Sánchez, José, and Gómez, Ramiro

Abstract

El principal objetivo de esta investigación documental, es dar a conocer las tecnologías remotas no invasivas, utilizadas durante la pandemia de la COVID-19, como apoyo en el registro de señales cardiorrespiratorias. Esta enfermedad ha causados efectos negativos en los sistemas de salud, haciendo que se tenga que reestructurar la forma de atención a los pacientes. En el difícil momento, la rápida propagación llevó a cambiar el estilo de vida, quedando en aislamiento por seguridad propia y la de seres queridos. El sistema cardiorrespiratorio fue el más afectado por la enfermedad COVID-19, causando dificultades respiratorias, cardiacas, fatiga, disnea entre otras. Donde parámetros como la Frecuencia cardiaca (FC) y Frecuencia respiratoria (FR) fueron fundamentales, para determinar la condición de un paciente COVID-19. Para esto se optó un método investigativo documental, retrospectivo donde se obtuvo información de publicaciones científicas, datos bibliográficos y buscadores relacionados al área de salud e ingeniería. En la actualidad se han desarrollado muchas soluciones de tecnologías remotas, sin embargo, su participación activa fue en la pandemia.

Published
2023

235. Differences in acoustic features of cough by pneumonia severity in patients with COVID-19: a cross-sectional study

Author

Universitat Politècnica de Catalunya. Departament d'Enginyeria de Sistemes, Automàtica i Informàtica Industrial, M. Davidson, Clare, Caguana, Oswaldo Antonio, Lozano García, Manuel, Arita Guevara, Mariela Lizzeth, Estrada Petrocelli, Luis Carlos, Ferrer Lluís, Ignasi, Castillo Escario, Yolanda, Ausín, Pilar, Gea Guiral, Joaquim, Jané Campos, Raimon, Universitat Politècnica de Catalunya. Departament d'Enginyeria de Sistemes, Automàtica i Informàtica Industrial, M. Davidson, Clare, Caguana, Oswaldo Antonio, Lozano García, Manuel, Arita Guevara, Mariela Lizzeth, Estrada Petrocelli, Luis Carlos, Ferrer Lluís, Ignasi, Castillo Escario, Yolanda, Ausín, Pilar, Gea Guiral, Joaquim, and Jané Campos, Raimon

Abstract

Background Acute respiratory syndrome due to coronavirus 2 (SARS-CoV-2) is characterised by heterogeneous levels of disease severity. It is not necessarily apparent whether a patient will develop severe disease or not. This cross-sectional study explores whether acoustic properties of the cough sound of patients with coronavirus disease 2019 (COVID-19), the illness caused by SARS-CoV-2, correlate with their disease and pneumonia severity, with the aim of identifying patients with severe disease. Methods Voluntary cough sounds were recorded using a smartphone in 70 COVID-19 patients within the first 24 h of their hospital arrival, between April 2020 and May 2021. Based on gas exchange abnormalities, patients were classified as mild, moderate or severe. Time- and frequency-based variables were obtained from each cough effort and analysed using a linear mixed-effects modelling approach. Results Records from 62 patients (37% female) were eligible for inclusion in the analysis, with mild, moderate and severe groups consisting of 31, 14 and 17 patients respectively. Five of the parameters examined were found to be significantly different in the cough of patients at different disease levels of severity, with a further two parameters found to be affected differently by the disease severity in men and women. Conclusions We suggest that all these differences reflect the progressive pathophysiological alterations occurring in the respiratory system of COVID-19 patients, and potentially would provide an easy and cost-effective way to initially stratify patients, identifying those with more severe disease, and thereby most effectively allocate healthcare resources., Peer Reviewed, Objectius de Desenvolupament Sostenible::3 - Salut i Benestar, Postprint (published version)

Published
2023

236. Non-indigenous seaweeds in the Northeast Atlantic Ocean, the Mediterranean Sea and Macaronesia: a critical synthesis of diversity, spatial and temporal patterns

Author

Van Der Loos, Luna M., Bafort, Quinten, Bosch, Samuel, Ballesteros, Enric, Bárbara, Ignacio, Berecibar, Estibaliz, Blanfuné, Aurélie, Bogaert, Kenny, Bouckenooghe, Silke, Boudouresque, Charles-françois, Brodie, Juliet, Cecere, Ester, Díaz-tapia, Pilar, Engelen, Aschwin H., Gunnarson, Karl, Shabaka, Soha Hamdy, Hoffman, Razy, Husa, Vivian, Israel, Álvaro, Karremans, Mart, Knoop, Jessica, Le Gall, Line, Maggs, Christine A., Mineur, Frederic, Parente, Manuela, Perk, Frank, Petrocelli, Antonella, Rodríguez-prieto, Conxi, Ruitton, Sandrine, Sansón, Marta, Serrão, Ester A., Sfriso, Adriano, Sjøtun, Kjersti, Stiger-pouvreau, Valerie, Surget, Gwladys, Taşkin, Ergün, Thibaut, Thierry, Tsiamis, Konstantinos, Van De Weghe, Lotte, Verlaque, Marc, Viard, Frédérique, Vranken, Sofie, Leliaert, Frederik, De Clerck, Olivier, Van Der Loos, Luna M., Bafort, Quinten, Bosch, Samuel, Ballesteros, Enric, Bárbara, Ignacio, Berecibar, Estibaliz, Blanfuné, Aurélie, Bogaert, Kenny, Bouckenooghe, Silke, Boudouresque, Charles-françois, Brodie, Juliet, Cecere, Ester, Díaz-tapia, Pilar, Engelen, Aschwin H., Gunnarson, Karl, Shabaka, Soha Hamdy, Hoffman, Razy, Husa, Vivian, Israel, Álvaro, Karremans, Mart, Knoop, Jessica, Le Gall, Line, Maggs, Christine A., Mineur, Frederic, Parente, Manuela, Perk, Frank, Petrocelli, Antonella, Rodríguez-prieto, Conxi, Ruitton, Sandrine, Sansón, Marta, Serrão, Ester A., Sfriso, Adriano, Sjøtun, Kjersti, Stiger-pouvreau, Valerie, Surget, Gwladys, Taşkin, Ergün, Thibaut, Thierry, Tsiamis, Konstantinos, Van De Weghe, Lotte, Verlaque, Marc, Viard, Frédérique, Vranken, Sofie, Leliaert, Frederik, and De Clerck, Olivier

Abstract

Effective monitoring of non-indigenous seaweeds and combatting their effects relies on a solid confirmation of the non-indigenous status of the respective species. We critically analysed the status of presumed non-indigenous seaweed species reported from the Mediterranean Sea, the Northeast Atlantic Ocean and Macaronesia, resulting in a list of 140 species whose non-indigenous nature is undisputed. For an additional 87 species it is unclear if they are native or non-indigenous (cryptogenic species) or their identity requires confirmation (data deficient species). We discuss the factors underlying both taxonomic and biogeographic uncertainties and outline recommendations to reduce uncertainty about the non-indigenous status of seaweeds. Our dataset consisted of over 19,000 distribution records, half of which can be attributed to only five species (Sargassum muticum, Bonnemaisonia hamifera, Asparagopsis armata, Caulerpa cylindracea and Colpomenia peregrina), while 56 species (40%) are recorded no more than once or twice. In addition, our analyses revealed considerable variation in the diversity of non-indigenous species between the geographic regions. The Eastern Mediterranean Sea is home to the largest fraction of non-indigenous seaweed species, the majority of which have a Red Sea or Indo-Pacific origin and have entered the Mediterranean Sea mostly via the Suez Canal. Non-indigenous seaweeds with native ranges situated in the Northwest Pacific make up a large fraction of the total in the Western Mediterranean Sea, Lusitania and Northern Europe, followed by non-indigenous species with a presumed Australasian origin. Uncertainty remains, however, regarding the native range of a substantial fraction of non-indigenous seaweeds in the study area. In so far as analyses of first detections can serve as a proxy for the introduction rate of non-indigenous seaweeds, these do not reveal a decrease in the introduction rate, indicating that the current measures and policies are

Published
2023
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237. El problema de los datos para un análisis urbano-regional a escala nacional en Argentina

Author

Schweitzer, Mariana, Petrocelli, Santiago, Schweitzer, Mariana, and Petrocelli, Santiago

Abstract

Socio-territorial inequality in Argentina is expressed in a cycle that tends to feed back with the re-concentration of capital, people, activities, infrastructure and services in the central area of ​​the country, while vast areas are left behind by the spatial selectivity of accumulation processes. In this context, the role of the state and the recovery of the national scale in the mobilization of public policies aimed at mitigating socio-territorial inequality is particularly relevant, which requires a multidimensional and multiscale urban-regional analysis from which to formulate them. To this end, the construction of the data, its potential, scope and explanatory limits are problematized, information deficiencies are identified and approaches are proposed that contemplate the rethinking of the units of analysis, the complexity and functional diversity of the agglomerates, the flows between them, the demographic dynamics, the living conditions, as well as aspects related to the labor market., La desigualdad socioterritorial en Argentina se expresa en un ciclo que tiende a retroalimentarse con la re-concentración de capital, personas, actividades, infraestructuras y servicios en el área central del país, mientras que vastas zonas quedan rezagadas por la selectividad espacial de los procesos de acumulación. En este marco cobra especial relevancia el rol del estado y la recuperación de la escala nacional en la movilización de políticas públicas orientadas a la mitigación de la desigualdad socioterritorial, para lo que se requiere un análisis urbano-regional multidimensional y multiescalar desde donde formularlas. A tales efectos se problematiza la construcción de los datos, sus potencialidades, alcances y límites explicativos, se identifican deficiencias de información y se proponen abordajes que contemplan el replanteo de las unidades de análisis, la complejidad y diversidad funcional de los aglomerados, los flujos entre ellos, la dinámica demográfica, las condiciones de vida, así como aspectos relativos al mercado de trabajo.

Published
2023

238. Non-indigenous seaweeds in the Northeast Atlantic Ocean, the Mediterranean Sea and Macaronesia: a critical synthesis of diversity, spatial and temporal patterns

Author

European Marine Biological Resource Centre, van der Loos, Luna M., Bafort, Quinten, Bosch, Samuel, Ballesteros, Enric, Bárbara, Ignacio, Bercibar, Estibaliz, Blanfuné, Aurélie, Bogaert, Kenny, Bouckenooghe, Silke, Boudouresque, Charles-François, Brodie, Juliet, Cecere, Ester, Díaz-Tapia, Pilar, Engelen, Aschwin, Gunnarson, Karl, Hamdy Shabaka, Soha, Hoffman, Razy, Husa. Vivian, Israel, Álvaro, Karremans, Mart, Knoop, Jessica, Le Gall, Line Le, Maggs, Christine A., Mineur, Frédéric, Parente, Manuela, Perk, Frank, Petrocelli, Antonella, Rodríguez-Prieto, Conxi, Ruitton, Sandrine, Sansón, Marta, Serrão, Ester A., Sfriso, Adriano, Sjøtun, Kjersti, Stiger-Pouvreau, Valérie, Surget, Gwladys, Thibaut, Thierry, Tsiamis, Konstantinos, Van De Weghe, Lotte, Verlaque, Marc, Viard, Frédérique, Vranken, Sofie, Leliaert, Frederik, De Clerck, Olivier, European Marine Biological Resource Centre, van der Loos, Luna M., Bafort, Quinten, Bosch, Samuel, Ballesteros, Enric, Bárbara, Ignacio, Bercibar, Estibaliz, Blanfuné, Aurélie, Bogaert, Kenny, Bouckenooghe, Silke, Boudouresque, Charles-François, Brodie, Juliet, Cecere, Ester, Díaz-Tapia, Pilar, Engelen, Aschwin, Gunnarson, Karl, Hamdy Shabaka, Soha, Hoffman, Razy, Husa. Vivian, Israel, Álvaro, Karremans, Mart, Knoop, Jessica, Le Gall, Line Le, Maggs, Christine A., Mineur, Frédéric, Parente, Manuela, Perk, Frank, Petrocelli, Antonella, Rodríguez-Prieto, Conxi, Ruitton, Sandrine, Sansón, Marta, Serrão, Ester A., Sfriso, Adriano, Sjøtun, Kjersti, Stiger-Pouvreau, Valérie, Surget, Gwladys, Thibaut, Thierry, Tsiamis, Konstantinos, Van De Weghe, Lotte, Verlaque, Marc, Viard, Frédérique, Vranken, Sofie, Leliaert, Frederik, and De Clerck, Olivier

Abstract

Effective monitoring of non-indigenous seaweeds and combatting their effects relies on a solid confirmation of the non-indigenous status of the respective species. We critically analysed the status of presumed non-indigenous seaweed species reported from the Mediterranean Sea, the Northeast Atlantic Ocean and Macaronesia, resulting in a list of 140 species whose non-indigenous nature is undisputed. For an additional 87 species it is unclear if they are native or non-indigenous (cryptogenic species) or their identity requires confirmation (data deficient species). We discuss the factors underlying both taxonomic and biogeographic uncertainties and outline recommendations to reduce uncertainty about the non-indigenous status of seaweeds. Our dataset consisted of over 19,000 distribution records, half of which can be attributed to only five species (Sargassum muticum, Bonnemaisonia hamifera, Asparagopsis armata, Caulerpa cylindracea and Colpomenia peregrina), while 56 species (40%) are recorded no more than once or twice. In addition, our analyses revealed considerable variation in the diversity of non-indigenous species between the geographic regions. The Eastern Mediterranean Sea is home to the largest fraction of non-indigenous seaweed species, the majority of which have a Red Sea or Indo-Pacific origin and have entered the Mediterranean Sea mostly via the Suez Canal. Non-indigenous seaweeds with native ranges situated in the Northwest Pacific make up a large fraction of the total in the Western Mediterranean Sea, Lusitania and Northern Europe, followed by non-indigenous species with a presumed Australasian origin. Uncertainty remains, however, regarding the native range of a substantial fraction of non-indigenous seaweeds in the study area. In so far as analyses of first detections can serve as a proxy for the introduction rate of non-indigenous seaweeds, these do not reveal a decrease in the introduction rate, indicating that the current measures and policies are

Published
2023

239. Influence of the fuzzy function on the estimation of the fuzzy sample entropy with fixed tolerance values for the evaluation of surface EMG muscle activity

Author

Universitat Politècnica de Catalunya. Departament d'Enginyeria de Sistemes, Automàtica i Informàtica Industrial, Torres Cebrián, Abel, Estrada Petrocelli, Luis Carlos, Universitat Politècnica de Catalunya. Departament d'Enginyeria de Sistemes, Automàtica i Informàtica Industrial, Torres Cebrián, Abel, and Estrada Petrocelli, Luis Carlos

Abstract

Fixed sample entropy (fSampEn) is a technique that has demonstrated superior performance to other amplitude estimators for assessing respiratory muscle electromyographic activity. This technique is based on the calculation of sample entropy (SampEn) using fixed tolerance thresholds. Fuzzy entropy (FuzzyEn) introduces an improvement to the SampEn algorithm based on the use of a fuzzy measure to evaluate the similarity between vectors. However, several fuzzy functions have been used to calculate the FuzzyEn, and not all of them allow an effective comparison with the SampEn calculation parameters. In the present work, an analysis of the different fuzzy functions previously used has been carried out and a new sigmoid fuzzy function for the calculation of FuzzyEn with fixed tolerance thresholds (fFuzzyEn) has been proposed. The results show that the proposed fuzzy function outperformed both fSampEn and previously proposed FuzzyEn-based algorithms. These results suggest that fFuzzyEn could improve the assessment of muscle activity providing potentially useful diagnostic information., Peer Reviewed, Postprint (published version)

Published
2023

240. Planificación en Argentina a principios del siglo XXI

Author

Mariana Schweitzer, Silvina Carrizo, Marisa Scardino, Santiago Petrocelli, Pablo Schweitzer, and María Laura Carena

Subjects
Planes estratégicos, Estado, Política Pública, Argentina, AREA, Diseño, Architecture, NA1-9428, Urban groups. The city. Urban sociology, HT101-395
Abstract

A principios del siglo XXI, el Estado argentino reinició una etapa de planificación del territorio y de sus actividades económico estratégicas, como un proceso político-técnico que se plasmó, no solamente a partir de la modificación del organigrama institucional y de la creación de empresas del Estado, sino también recuperando el diseño de planes estratégicos. Entendiendo la planificación como un proceso técnico vinculado al cumplimiento de objetivos políticos, se analizan los planes estratégicos nacionales elaborados entre 2003 y 2015 y los planteos incluidos para su concreción, tanto en materia de gestión, como en la definición de proyectos concretos para los territorios.

Published
2019

241. Institucionalización de la cuestión ambiental en el contexto del (neo) extractivismo minero. El rol del estado argentino en el caso minera Alumbrera Ltd.

Author

Santiago Pablo Petrocelli

Subjects
institucionalización ambiental, minería a cielo abierto, rol del estado, Geography (General), G1-922
Abstract

El objetivo de esta investigación es analizar el rol del Estado argentino en la institucionalización de la cuestión ambiental en el marco de la promoción de la minería a cielo abierto, a partir del caso Minera Alumbrera Ltd. en la Provincia de Catamarca. La estrategia metodológica incluye tareas desarrolladas en gabinete –revisión de bibliografía secundaria, legislación, imágenes satelitales y documentación oficial– y otras en trabajo de campo –entrevistas a actores clave y recolección de documentación oficial–. Entre los resultados, se observó que el horizonte político en materia ambiental fue limitar y reparar los daños, más que incidir en la definición del modelo de desarrollo para fomentar o restringir determinados tipos de relaciones socioecológicas. Se identificó que el sistema estatal de control ambiental, inscripto en una integración periférico-dependiente del territorio catamarqueño a la geografía de la economía globalizada, resultó extremadamente laxo.

Published
2019
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242. Prevalence of Persistent Olfactory Disorders in Patients With COVID‐19: A Psychophysical Case‐Control Study With 1‐Year Follow‐up

Author

Luigi Angelo Vaira, Giovanni, Salzano, Serge Daniel Le Bon, Maglio, Angelantonio, Marzia, Petrocelli, Younes, Steffens, Enrica, Ligas, Fabio, Maglitto, Lechien, Jerome R., Sven, Saussez, Vatrella, Alessandro, Salzano, Francesco Antonio, Paolo, Boscolo-Rizzo, Claire, Hopkins, Giacomo De Riu, Vaira, Luigi Angelo, Salzano, Giovanni, Bon, Serge Le, Maglio, Angelantonio, Petrocelli, Marzia, Steffens, Youne, Ligas, Enrica, Maglitto, Fabio, Lechien, Jerome R, Saussez, Sven, Vatrella, Alessandro, Salzano, Francesco Antonio, Boscolo-Rizzo, Paolo, Hopkins, Claire, and De Riu, Giacomo

Subjects
PS/QI, medicine.medical_specialty, Coronavirus disease 2019 (COVID-19), Anosmia, Population, coronavirus, 1 year follow up, Olfaction Disorders, COVID-19, SARS-CoV-2, anosmia, long COVID-19, olfactory, prospective study, smell, Case-Control Studies, Follow-Up Studies, Humans, Prevalence, Smell, Hyposmia, Interquartile range, Internal medicine, medicine, Prospective cohort study, education, COVID-19, olfactory, smell, anosmia, SARS-CoV-2, long COVID-19, coronavirus, prospective study, PS/QI, education.field_of_study, business.industry, Case-control study, coronaviru, Otorhinolaryngology, Surgery, medicine.symptom, business
Abstract

The purpose of this multicenter case-control study was to evaluate a group of patients at least 1 year after coronavirus disease 2019 (COVID-19) with Sniffin' Sticks tests and to compare the results with a control population to quantify the potential bias introduced by the underlying prevalence of olfactory dysfunction (OD) in the general population. The study included 170 cases and 170 controls. In the COVID-19 group, 26.5% of cases had OD (anosmia in 4.7%, hyposmia in 21.8%) versus 3.5% in the control group (6 cases of hyposmia). The TDI score (threshold, discrimination, and identification) in the COVID-19 group was significantly lower than in the control group (32.5 [interquartile range, 29-36.5] vs 36.75 [34-39.5], P < .001). The prevalence of OD was significantly higher in the COVID-19 group, confirming that this result is not due to the underlying prevalence of OD in the general population.

Published
2021
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246. Oxytocin Modulates Osteogenic Commitment in Human Adipose-Derived Stem Cells

Author

Canaider, Giovannamaria Petrocelli, Provvidenza Maria Abruzzo, Luca Pampanella, Riccardo Tassinari, Serena Marini, Elena Zamagni, Carlo Ventura, Federica Facchin, and Silvia

Subjects
human adipose-derived stem cells, oxytocin, proliferation, migration, senescence, osteogenesis, adipogenesis, autophagy
Abstract

Human adipose-derived stem cells (hASCs) are commonly harvested in minimally invasive contexts with few ethical concerns, and exhibit self-renewal, multi-lineage differentiation, and trophic signaling that make them attractive candidates for cell therapy approaches. The identification of natural molecules that can modulate their biological properties is a challenge for many researchers. Oxytocin (OXT) is a neurohypophyseal hormone that plays a pivotal role in the regulation of mammalian behavior, and is involved in health and well-being processes. Here, we investigated the role of OXT on hASC proliferation, migratory ability, senescence, and autophagy after a treatment of 72 h; OXT did not affect hASC proliferation and migratory ability. Moreover, we observed an increase in SA-β-galactosidase activity, probably related to the promotion of the autophagic process. In addition, the effects of OXT were evaluated on the hASC differentiation ability; OXT promoted osteogenic differentiation in a dose-dependent manner, as demonstrated by Alizarin red staining and gene/protein expression analysis, while it did not affect or reduce adipogenic differentiation. We also observed an increase in the expression of autophagy marker genes at the beginning of the osteogenic process in OXT-treated hASCs, leading us to hypothesize that OXT could promote osteogenesis in hASCs by modulating the autophagic process.

Published
2023
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247. Optimisation of encapsulation technique for confining microparticles in lipid membranes

Author

De Remigis, Eugenia, Roberti, Elisa, Gómez Bernal, Hilda, Petrocelli, Elisa Linda, Petrucci, Gaia, Cecchi, Dario, Sharma, Jyoti, Bianciardi, Francesco, and Palagi, Stefano

Subjects
microparticles, active particles, liposome, encapsulation, GUV, microrobots, vesicle, inverted emulsion
Abstract

Poster presented by Eugenia De Remigis at the Interchall2023 - Interdisciplinary challenges: from non-equilibrium physics to life sciences conference, held in Rome, Italy, on April 17 - 21, 2023., {"references":["Song, S., Llopis-Lorente, A., Mason, A. F., Abdelmohsen, L. K. E. A. & van Hest, J. C. M. Confined Motion: Motility of Active Microparticles in Cell-Sized Lipid Vesicles. J. Am. Chem. Soc. 144, 13831– 13838 (2022)","Vutukuri, H. R. et al. Active particles induce large shape deformations in giant lipid vesicles. Nature 586, 52–56 (2020)","Bricard, A., Caussin, J.-B., Desreumaux, N., Dauchot, O. & Bartolo, D. Emergence of macroscopic directed motion in populations of motile colloids. Nature 503, 95–98 (2013)","Buttinoni, I. et al. Dynamical Clustering and Phase Separation in Suspensions of Self-Propelled Colloidal Particles. Phys. Rev. Lett. 110, 238301 (2013)","Pautot, S., Frisken, B. J. & Weitz, D. A. Production of Unilamellar Vesicles Using an Inverted Emulsion. Langmuir 19, 2870–2879 (2003)","Moga, A., Yandrapalli, N., Dimova, R. & Robinson, T. Optimization of the Inverted Emulsion Method for High-Yield Production of Biomimetic Giant Unilamellar Vesicles. ChemBioChem 20, 2674–2682 (2019)","Ghellab, S. E., Mu, W., Li, Q. & Han, X. Prediction of the size of electroformed giant unilamellar vesicle using response surface methodology. Biophys Chem 253, 106217 (2019)","NIST/SEMATECH e-Handbook of Statistical Methods, http://www.itl.nist.gov/div898/handbook/, accessed April 11, 2023"]}

Published
2023
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248. Changes in Hospital Admissions for Facial Fractures During and After Covid 19 Pandemic: National Multicentric Epidemiological Analysis on 2,938 Patients

Author

Marzia Petrocelli, Federica Ruggiero, Davide Allegri, Sebastiano Cutrupi, Anna Maria Baietti, Giovanni Salzano, Fabio Maglitto, Alfonso Manfuso, Chiara Copelli, Ida Barca, Maria Giulia Cristofaro, Francesca Galvano, Valentina Poddi Loche, Paolo Gemini, Karim Tewfik, Dante Burlini, Marco Bernardi, Francesca Antonella Bianchi, Susanna Catanzaro, Giuliano Ascani, Giuseppe Consorti, Paolo Balercia, Andrea Braconi, Calogero Scozzaro, Luciano Catalfamo, Danilo De Rinaldis, Francesco Saverio De Ponte, Filippo Tarabbia, Federico Biglioli, Francesco Giovacchini, Antonio Tullio, Antonia Cama, Paolo Di Emidio, Silvano Ferrari, Giuseppe Perlangeli, Maria Beatrice Rossi, Andrea Biglio, Giacomo De Riu, Luigi Califano, and Luigi Angelo Vaira

Abstract

Purpose: the purpose of this study was to retrospectively analyze the clinical records of patients admitted for maxillo-facial fracture to 18 Italian center, evaluating the epidemiological differences between the different phases of the SARS-CoV-2 pandemic. Methods: This is a retrospective study on patients who underwent surgery for facial bone fractures in 18 maxillo-facial surgery deparments in Italy, from February 23, 2020 to February 23, 2022. According to the date of admission, all the data were stratified in four chronological periods encompassing the four different moments in terms of restriction in Italy: pre-pandemic, first wave, partial restrictions and post-pandemic groups. Differences in epidemiological data between the groups were analysed. Results: 2,938 patients were included. There was a statistically significant difference in the cause of hospitalization between pre-pandemic and first wave groups (p=0.005) and between pre-pandemic and partial restriction groups (p=0.002). The differences between the pre- and post-pandemic groups where instead not significant (p=0.106). Compared to the pre-pandemic period, the number of Black patients was significantly higher during the first wave and the post-pandemic period. Differences between the periods in terms of gender, age, type of fracture, treatment modality, and length of hospital stay were not found to be statistically significant. Conclusions: during the COVID-19 pandemic there have been profound changes in the epidemiology of fractures influenced by the restrictive measures implemented by the government. At the end of the pandemic, the epidemiology of fractures returned to being the same as in the pre-pandemic period.Purpose: the purpose of this study was to retrospectively analyze the clinical records of patients admitted for maxillo-facial fracture to 18 Italian center, evaluating the epidemiological differences between the different phases of the SARS-CoV-2 pandemic. Methods: This is a retrospective study on patients who underwent surgery for facial bone fractures in 18 maxillo-facial surgery deparments in Italy, from February 23, 2020 to February 23, 2022. According to the date of admission, all the data were stratified in four chronological periods encompassing the four different moments in terms of restriction in Italy: pre-pandemic, first wave, partial restrictions and post-pandemic groups. Differences in epidemiological data between the groups were analysed. Results: 2,938 patients were included. There was a statistically significant difference in the cause of hospitalization between pre-pandemic and first wave groups (p=0.005) and between pre-pandemic and partial restriction groups (p=0.002). The differences between the pre- and post-pandemic groups where instead not significant (p=0.106). Compared to the pre-pandemic period, the number of Black patients was significantly higher during the first wave and the post-pandemic period. Differences between the periods in terms of gender, age, type of fracture, treatment modality, and length of hospital stay were not found to be statistically significant. Conclusions: during the COVID-19 pandemic there have been profound changes in the epidemiology of fractures influenced by the restrictive measures implemented by the government. At the end of the pandemic, the epidemiology of fractures returned to being the same as in the pre-pandemic period.

Published
2023
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250. Short-Term Efficacy and Safety of Oral and Nasal Corticosteroids in COVID-19 Patients with Olfactory Dysfunction: A European Multicenter Study

Author

Sven Saussez, Luigi Angelo Vaira, Carlos M. Chiesa-Estomba, Serge Daniel Le Bon, Mihaela Horoi, Giovanna Deiana, Marzia Petrocelli, Philippe Boelpaep, Giovanni Salzano, Mohamad Khalife, Stephane Hans, Giacomo De Riu, Claire Hopkins, and Jerome R. Lechien

Subjects
COVID-19, SARS-CoV-2, anosmia, olfactory, smell, treatment, Medicine
Abstract

Background: The objective of this study was to investigate the efficacy and safety of early administration of oral corticosteroids (OC) or nasal corticosteroids (NC) as an add-on to olfactory training (OT) versus OT alone in patients with olfactory dysfunction (OD) related to coronavirus disease 2019 (COVID-19). Methods: Patients with a positive diagnosis of COVID-19 and OD were prospectively recruited from March 22 to December 15, 2020 from 4 European hospitals. Patients had confirmed OD on psychophysical testing. All patients undertook OT, with add-on 10 days of OC (group 1: OC + OT), or 1 month of NC (group 2: NC + OT) or olfactory training alone (group 3: OT). Olfactory evaluations (Sniffin’Sticks tests) were carried out at the time of inclusion, 1 and 2 months after the start of the therapeutic course. Results: A total of 152 hyposmic or anosmic patients completed the study. Group 1, 2 and 3 included 59, 22 and 71 patients, respectively and all patient groups were comparable regarding baseline Sniffin’Sticks tests. The median Sniffin’Sticks test values significantly improved from pre- to post-intervention in all groups. The increase of Sniffin’Sticks test values was higher in group 1 (OC + OT) compared with groups 2 and 3 (p < 0.001) at one month after treatment but did not remain so at 2 months. Groups 1, 2 and 3, respectively, presented parosmia in 20/71 (28.2%), 9/22 (40.9%) and 42/71 (59.2%) patients. This difference was statistically significant between group 1 and 3 (p < 0.001). There were no patients with a worsening of the disease or an increase of the severity of the COVID-19 symptoms. Conclusions: The use of OCs in patients with OD related to mild COVID-19 is generally well-tolerated without any case of deterioration of symptoms. OC is associated with greater improvement in psychophysical olfactory evaluations at 1-month post-treatment but there was no difference at 2 months. Parosmia may be reduced following treatment with OC and NC. On the basis of these preliminary results, it is possible to state that considering the 2 months efficacy of OC and NC with respect to the OT alone and the risk-benefit ratio, the benefit to start a specific treatment of COVID-19 related OD cannot be demonstrated and there is a need for a randomised controlled trial to assess this further.

Published
2021
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