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4. Quaternary structure predictions of transmembrane proteins starting from the monomer: a docking-based approach

Author

Fanelli F, Seeber M, and Casciari D

Subjects
Computer applications to medicine. Medical informatics, R858-859.7, Biology (General), QH301-705.5
Abstract

Abstract Background We introduce a computational protocol for effective predictions of the supramolecular organization of integral transmembrane proteins, starting from the monomer. Despite the demonstrated constitutive and functional importance of supramolecular assemblies of transmembrane subunits or proteins, effective tools for structure predictions of such assemblies are still lacking. Our computational approach consists in rigid-body docking samplings, starting from the docking of two identical copies of a given monomer. Each docking run is followed by membrane topology filtering and cluster analysis. Prediction of the native oligomer is therefore accomplished by a number of progressive growing steps, each made of one docking run, filtering and cluster analysis. With this approach, knowledge about the oligomerization status of the protein is required neither for improving sampling nor for the filtering step. Furthermore, there are no size-limitations in the systems under study, which are not limited to the transmembrane domains but include also the water-soluble portions. Results Benchmarks of the approach were done on ten homo-oligomeric membrane proteins with known quaternary structure. For all these systems, predictions led to native-like quaternary structures, i.e. with Cα-RMSDs lower than 2.5 Å from the native oligomer, regardless of the resolution of the structural models. Conclusion Collectively, the results of this study emphasize the effectiveness of the prediction protocol that will be extensively challenged in quaternary structure predictions of other integral membrane proteins.

Published
2006
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5. BOC.02.4: EPISODIC OVERT HEPATIC ENCEPHALOPATHY AFTER TRANSJUGULAR INTRAHEPATIC PORTOSYSTEMIC SHUNT DOES NOT INCREASE MORTALITY IN PATIENTS WITH CIRRHOSIS

Author

Nardelli, S., primary, Riggio, O., additional, Marra, F., additional, Gioia, S., additional, Saltini, D., additional, Bellafante, D., additional, Adotti, V., additional, Guasconi, T., additional, Ridola, L., additional, Rosi, M., additional, Caporali, C., additional, Fanelli, F., additional, Roccarina, D., additional, Bianchini, M., additional, Indulti, F., additional, Spagnoli, A., additional, Merli, M., additional, Vizzutti, F., additional, and Schepis, F., additional

Published
2024
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6. Episodic overt hepatic encephalopathy after transjugular intrahepatic portosystemic shunt does not increase mortality in patients with cirrhosis

Author

Nardelli, S., primary, Riggio, O., additional, Marra, F., additional, Gioia, S., additional, Saltini, D., additional, Bellafante, D., additional, Adotti, V., additional, Guasconi, T., additional, Ridola, L., additional, Rosi, M., additional, Caporali, C., additional, Fanelli, F., additional, Roccarina, D., additional, Bianchini, M., additional, Indulti, F., additional, Spagnoli, A., additional, Merli, M., additional, Vizzutti, F., additional, and Schepis, F., additional

Published
2024
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7. Response to “Hepatic encephalopathy and survival after transjugular intra-hepatic portosystemic shunt: do spontaneous portosystemic shunts matter?”

Author

Nardelli, S., primary, Riggio, O., additional, Marra, F., additional, Gioia, S., additional, Saltini, D., additional, Bellafante, D., additional, Adotti, V., additional, Guasconi, T., additional, Ridola, L., additional, Rosi, M., additional, Caporali, C., additional, Fanelli, F., additional, Roccarina, D., additional, Bianchini, M., additional, Indulti, F., additional, Spagnoli, A., additional, Merli, M., additional, Schepis, F., additional, and Vizzutti, F., additional

Published
2024
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10. Request for regulatory guidance for cancer cachexia intervention trials

Author

Fearon, Kch, Argiles, JM, Baracos, VE, Bernabei, R, Coats, Ajs, Crawford, J, Deutz, NE, Doehner, W, Evans, WJ, Ferrucci, L, Garcia, JM, Gralla, RJ, Jatoi, A, Kalantar-Zadeh, K, Lainscak, M, Morley, JE, Muscaritoli, M, Polkey, MI, Rosano, G, Rossi-Fanelli, F, Schols, AM, Strasser, F, Vellas, B, von Haehling, S, and Anker, SD

Subjects
Biomedical and Clinical Sciences, Allied Health and Rehabilitation Science, Health Sciences, Clinical Sciences, Sports Science and Exercise, Physiology, Human Movement and Sports Sciences, Clinical sciences, Allied health and rehabilitation science, Sports science and exercise
Published
2015

16. Busulfan or Treosulfan Conditioning Platform for Allogeneic Stem Cell Transplantation in Patients Aged >60 y with Acute Myeloid Leukemia/Myelodysplastic Syndrome: A Subanalysis of the GITMO AlloEld Study

Author

Malagola, M., Polverelli, N., Martino, Michelangelo, Patriarca, Fabrizio, Bruno, Brunella, Giaccone, L., Grillo, G., Bramanti, S., Bernasconi, P., De Gobbi, M., Natale, A., Terruzzi, E., Olivieri, Alessandra, Chiusolo, Patrizia, Carella, A. M., Casini, Marina, Maffini, E., Nozzoli, C., Mazza, P., Bassi, S., Onida, F., Vacca, Alessandro, Falcioni, S., Luppi, M., Iori, A. P., Pavone, V., Skert, C., Carluccio, P., Borghero, C., Proia, A., Selleri, C., Rubini, V., Sacchi, N., Oldani, E., Bonifazi, F., Ciceri, F., Russo, Daniele, Bernardi, S., Farina, M., Fiore, M., Lupo Stanghellini, M. T., Fanin, R., Faraci, D. G., Castagna, Luigi, Colombo, A. A., Nicoli, P., Santarone, S., Scortechini, I., Metafuni, Elisabetta, Merla, E., Cavattoni, I., Cutini, I., Mazzone, A., Saporiti, G., Canale, F. A., Piras, Edoardo, Galieni, P., Debbia, G., La Rocca, U., Mele, Dario Antonio, Carobolante, F., Elice, F., Fanelli, F., Martino M., Patriarca F., Bruno B., Olivieri A., Chiusolo P. (ORCID:0000-0002-1355-1587), Casini M. (ORCID:0000-0002-3209-7770), Vacca A., Russo D., Castagna L., Metafuni E., Piras E., Mele A., Malagola, M., Polverelli, N., Martino, Michelangelo, Patriarca, Fabrizio, Bruno, Brunella, Giaccone, L., Grillo, G., Bramanti, S., Bernasconi, P., De Gobbi, M., Natale, A., Terruzzi, E., Olivieri, Alessandra, Chiusolo, Patrizia, Carella, A. M., Casini, Marina, Maffini, E., Nozzoli, C., Mazza, P., Bassi, S., Onida, F., Vacca, Alessandro, Falcioni, S., Luppi, M., Iori, A. P., Pavone, V., Skert, C., Carluccio, P., Borghero, C., Proia, A., Selleri, C., Rubini, V., Sacchi, N., Oldani, E., Bonifazi, F., Ciceri, F., Russo, Daniele, Bernardi, S., Farina, M., Fiore, M., Lupo Stanghellini, M. T., Fanin, R., Faraci, D. G., Castagna, Luigi, Colombo, A. A., Nicoli, P., Santarone, S., Scortechini, I., Metafuni, Elisabetta, Merla, E., Cavattoni, I., Cutini, I., Mazzone, A., Saporiti, G., Canale, F. A., Piras, Edoardo, Galieni, P., Debbia, G., La Rocca, U., Mele, Dario Antonio, Carobolante, F., Elice, F., Fanelli, F., Martino M., Patriarca F., Bruno B., Olivieri A., Chiusolo P. (ORCID:0000-0002-1355-1587), Casini M. (ORCID:0000-0002-3209-7770), Vacca A., Russo D., Castagna L., Metafuni E., Piras E., and Mele A.

Abstract

Background. The conditioning regimens with different alkylators at different doses can influence the outcome of allogeneic stem cell transplantation (SCT), but conclusive data are missing. Methods. With the aim to analyze real-life allogeneic SCTs performed in Italy between 2006 and 2017 in elderly patients (aged >60 y) with acute myeloid leukemia or myelodysplastic syndrome, we collected 780 first transplants data. For analysis purposes, patients were grouped according to the type of alkylator included in the conditioning (busulfan [BU]-based; n = 618; 79%; treosulfan [TREO]-based; n=162; 21%). Results. No significant differences were observed in nonrelapse mortality, cumulative incidence of relapse, and overall survival, although in the TREO-based group, we observed a greater proportion of elderly patients (P < 0.001); more active diseases at the time of SCT (P < 0.001); a higher prevalence of patients with either hematopoietic cell transplantation-comorbidity index ≥3 (P < 0.001) or a good Karnofsky performance status (P = 0.025); increased use of peripheral blood stem cells as graft sources (P < 0.001); and greater use of reduced intensity conditioning regimens (P = 0.013) and of haploidentical donors (P < 0.001). Moreover, the 2-y cumulative incidence of relapse with myeloablative doses of BU was significantly lower than that registered with reduced intensity conditioning (21% versus 31%; P = 0.0003). This was not observed in the TREO-based group. Conclusions. Despite a higher number of risk factors in the TREO group, no significant differences were observed in nonrelapse mortality, cumulative incidence of relapse, and overall survival according to the type of alkylator, suggesting that TREO has no advantage over BU in terms of efficacy and toxicity in acute myeloid leukemia and myelodysplastic syndrome.

Published
2023

19. Steroid biomarkers for identifying non-classic adrenal hyperplasia due to 21-hydroxylase deficiency in a population of PCOS with suspicious levels of 17OH-progesterone

Author

Oriolo, C., Fanelli, F., Castelli, S., Mezzullo, M., Altieri, P., Corzani, F., Pelusi, C., Repaci, A., Di Dalmazi, G., Vicennati, V., Baldazzi, L., Menabò, S., Dormi, A., Nardi, E., Brillanti, G., Pasquali, R., Pagotto, U., and Gambineri, A.

Abstract

Objective: We aimed at defining the most effective routine immunoassay- or liquid chromatography-tandem mass spectrometry (LC–MS/MS)-determined steroid biomarkers for identifying non-classic adrenal hyperplasia due to 21-hydroxylase deficiency (21-NCAH) in a PCOS-like population before genotyping. Methods: Seventy PCOS-like patients in reproductive age with immunoassay-determined follicular 17OH-progesterone (17OHP) ≥ 2.00 ng/mL underwent CYP21A2gene analysis and 1–24ACTH test. Serum steroids were measured by immunoassays at baseline and 60 min after ACTH stimulation; basal steroid profile was measured by LC–MS/MS. Results: Genotyping revealed 23 21-NCAH, 15 single allele heterozygous CYP21A2mutations (21-HTZ) and 32 PCOS patients displaying similar clinical and metabolic features. Immunoassays revealed higher baseline 17OHP and testosterone, and after ACTH stimulation, higher 17OHP (17OHP60) and lower cortisol, whereas LC–MS/MS revealed higher 17OHP (17OHPLC-MS/MS), progesterone and 21-deoxycortisol and lower corticosterone in 21-NCAH compared with both 21-HTZ and PCOS patients. Steroid thresholds best discriminating 21-NCAH from 21-HTZ and PCOS were estimated, and their diagnostic accuracy in identifying 21-NCAH from PCOS was established by ROC analysis. The highest accuracy was observed for 21-deoxycortisol ≥ 0.087 ng/mL, showing 100% sensitivity, while the combination of 17OHPLC-MS/MS≥ 1.79 ng/mL and corticosterone ≤ 8.76 ng/mL, as well as the combination of ACTH-stimulated 17OHP ≥ 6.77 ng/mL and cortisol ≤ 240 ng/mL by immunoassay, showed 100% specificity. Conclusions: LC–MS/MS measurement of basal follicular 21-deoxycortisol, 17OHP and corticosterone seems the most convenient method for diagnosing 21-NCAH in a population of PCOS with a positive first level screening, providing high accuracy and reducing the need for ACTH stimulation test.

Published
2024
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21. 781. Unravelling the genetic basis governing the porcine metabolism

Author

Bovo, S., primary, Schiavo, G., additional, Fanelli, F., additional, Ribani, A., additional, Bertolini, F., additional, Utzeri, V.J., additional, Gallo, M., additional, Galimberti, G., additional, Dall’Olio, S., additional, Martelli, P.L., additional, Casadio, R., additional, Pagotto, U., additional, and Fontanesi, L., additional

Published
2022
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24. Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males

Author

Baldassarri, M, Picchiotti, N, Fava, F, Fallerini, C, Benetti, E, Daga, S, Valentino, F, Doddato, G, Furini, S, Giliberti, A, Tita, R, Amitrano, S, Bruttini, M, Croci, S, Meloni, I, Pinto, A, Iuso, N, Gabbi, C, Sciarra, F, Venneri, M, Gori, M, Sanarico, M, Crawley, F, Pagotto, U, Fanelli, F, Mezzullo, M, Dominguez-Garrido, E, Planas-Serra, L, Schluter, A, Colobran, R, Soler-Palacin, P, Lapunzina, P, Tenorio, J, Pujol, A, Castagna, M, Marcelli, M, Isidori, A, Renieri, A, Frullanti, E, Mari, F, Montagnani, F, Di Sarno, L, Tommasi, A, Palmieri, M, Fabbiani, M, Rossetti, B, Zanelli, G, Sestini, F, 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, Caldarelli, G, Spagnesi, M, Piacentini, P, Bandini, M, Desanctis, E, Cappelli, S, Canaccini, A, Verzuri, A, Anemoli, V, Ognibene, A, Vaghi, M, Monforte, A, Merlini, E, Miraglia, F, Mondelli, M, Mantovani, S, Ludovisi, S, Girardis, M, Venturelli, S, Sita, M, Cossarizza, A, Antinori, A, Vergori, A, Emiliozzi, A, Rusconi, S, Siano, M, Gabrieli, A, Riva, A, Francisci, D, Schiaroli, E, Paciosi, F, Scotton, P, Andretta, F, Panese, S, Baratti, S, Scaggiante, R, Gatti, F, Parisi, S, Castelli, F, Quiros-Roldan, E, Antoni, M, Zanella, I, Monica, M, Piscopo, C, Capasso, M, Russo, R, Andolfo, I, Iolascon, A, Fiorentino, G, Carella, M, Castori, M, Merla, G, Aucella, F, Raggi, P, Marciano, C, Perna, R, Bassetti, M, Di Biagio, A, Sanguinetti, M, Masucci, L, Valente, S, Mencarelli, M, Lo Rizzo, C, Bargagli, E, Mandala, M, Giorli, A, Salerni, L, Zucchi, P, Parravicini, P, Menatti, E, Trotta, T, Giannattasio, F, Coiro, G, Lena, F, Coviello, D, Mussini, C, Bosio, G, Martinelli, E, Mancarella, S, Tavecchia, L, Crotti, L, Parati, G, Aguilera-Albesa, S, Albu, S, Casasnovas, C, Velez-Santamaria, V, Horcajada, J, Villar, J, Rodriguez-Palmero, A, Ruiz, M, Seijo, L, Troya, J, Valencia-Ramos, J, Gut, M, Baldassarri M., Picchiotti N., Fava F., Fallerini C., Benetti E., Daga S., Valentino F., Doddato G., Furini S., Giliberti A., Tita R., Amitrano S., Bruttini M., Croci S., Meloni I., Pinto A. M., Iuso N., Gabbi C., Sciarra F., Venneri M. A., Gori M., Sanarico M., Crawley F. P., Pagotto U., Fanelli F., Mezzullo M., Dominguez-Garrido E., Planas-Serra L., Schluter A., Colobran R., Soler-Palacin P., Lapunzina P., Tenorio J., Pujol A., Castagna M. G., Marcelli M., Isidori A. M., Renieri A., Frullanti E., Mari F., Montagnani F., Di Sarno L., Tommasi A., Palmieri M., Fabbiani M., Rossetti B., Zanelli G., Sestini F., Bergantini L., D'Alessandro M., Cameli P., Bennett D., Anedda F., Marcantonio S., Scolletta S., Franchi F., Mazzei M. A., 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., Caldarelli G. P., Spagnesi M., Piacentini P., Bandini M., Desanctis E., Cappelli S., Canaccini A., Verzuri A., Anemoli V., Ognibene A., Vaghi M., Monforte A. D., Merlini E., Miraglia F. G., Mondelli M. U., Mantovani S., Ludovisi S., Girardis M., Venturelli S., Sita M., Cossarizza A., Antinori A., Vergori A., Emiliozzi A., Rusconi S., Siano M., Gabrieli A., Riva A., Francisci D., Schiaroli E., Paciosi F., 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., Monica M. D., Piscopo C., Capasso M., Russo R., Andolfo I., Iolascon A., Fiorentino G., Carella M., Castori M., Merla G., Aucella F., Raggi P., Marciano C., Perna R., Bassetti M., Di Biagio A., Sanguinetti M., Masucci L., Valente S., Mencarelli M. A., Lo Rizzo C., Bargagli E., Mandala M., Giorli A., Salerni L., Zucchi P., Parravicini P., Menatti E., Trotta T., Giannattasio F., Coiro G., Lena F., Coviello D. A., Mussini C., Bosio G., Martinelli E., Mancarella S., Tavecchia L., Crotti L., Parati G., Aguilera-Albesa S., Albu S., Casasnovas C., Velez-Santamaria V., Horcajada J. P., Villar J., Rodriguez-Palmero A., Ruiz M., Seijo L. M., Troya J., Valencia-Ramos J., Gut M., Baldassarri, M, Picchiotti, N, Fava, F, Fallerini, C, Benetti, E, Daga, S, Valentino, F, Doddato, G, Furini, S, Giliberti, A, Tita, R, Amitrano, S, Bruttini, M, Croci, S, Meloni, I, Pinto, A, Iuso, N, Gabbi, C, Sciarra, F, Venneri, M, Gori, M, Sanarico, M, Crawley, F, Pagotto, U, Fanelli, F, Mezzullo, M, Dominguez-Garrido, E, Planas-Serra, L, Schluter, A, Colobran, R, Soler-Palacin, P, Lapunzina, P, Tenorio, J, Pujol, A, Castagna, M, Marcelli, M, Isidori, A, Renieri, A, Frullanti, E, Mari, F, Montagnani, F, Di Sarno, L, Tommasi, A, Palmieri, M, Fabbiani, M, Rossetti, B, Zanelli, G, Sestini, F, 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, Caldarelli, G, Spagnesi, M, Piacentini, P, Bandini, M, Desanctis, E, Cappelli, S, Canaccini, A, Verzuri, A, Anemoli, V, Ognibene, A, Vaghi, M, Monforte, A, Merlini, E, Miraglia, F, Mondelli, M, Mantovani, S, Ludovisi, S, Girardis, M, Venturelli, S, Sita, M, Cossarizza, A, Antinori, A, Vergori, A, Emiliozzi, A, Rusconi, S, Siano, M, Gabrieli, A, Riva, A, Francisci, D, Schiaroli, E, Paciosi, F, Scotton, P, Andretta, F, Panese, S, Baratti, S, Scaggiante, R, Gatti, F, Parisi, S, Castelli, F, Quiros-Roldan, E, Antoni, M, Zanella, I, Monica, M, Piscopo, C, Capasso, M, Russo, R, Andolfo, I, Iolascon, A, Fiorentino, G, Carella, M, Castori, M, Merla, G, Aucella, F, Raggi, P, Marciano, C, Perna, R, Bassetti, M, Di Biagio, A, Sanguinetti, M, Masucci, L, Valente, S, Mencarelli, M, Lo Rizzo, C, Bargagli, E, Mandala, M, Giorli, A, Salerni, L, Zucchi, P, Parravicini, P, Menatti, E, Trotta, T, Giannattasio, F, Coiro, G, Lena, F, Coviello, D, Mussini, C, Bosio, G, Martinelli, E, Mancarella, S, Tavecchia, L, Crotti, L, Parati, G, Aguilera-Albesa, S, Albu, S, Casasnovas, C, Velez-Santamaria, V, Horcajada, J, Villar, J, Rodriguez-Palmero, A, Ruiz, M, Seijo, L, Troya, J, Valencia-Ramos, J, Gut, M, Baldassarri M., Picchiotti N., Fava F., Fallerini C., Benetti E., Daga S., Valentino F., Doddato G., Furini S., Giliberti A., Tita R., Amitrano S., Bruttini M., Croci S., Meloni I., Pinto A. M., Iuso N., Gabbi C., Sciarra F., Venneri M. A., Gori M., Sanarico M., Crawley F. P., Pagotto U., Fanelli F., Mezzullo M., Dominguez-Garrido E., Planas-Serra L., Schluter A., Colobran R., Soler-Palacin P., Lapunzina P., Tenorio J., Pujol A., Castagna M. G., Marcelli M., Isidori A. M., Renieri A., Frullanti E., Mari F., Montagnani F., Di Sarno L., Tommasi A., Palmieri M., Fabbiani M., Rossetti B., Zanelli G., Sestini F., Bergantini L., D'Alessandro M., Cameli P., Bennett D., Anedda F., Marcantonio S., Scolletta S., Franchi F., Mazzei M. A., 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., Caldarelli G. P., Spagnesi M., Piacentini P., Bandini M., Desanctis E., Cappelli S., Canaccini A., Verzuri A., Anemoli V., Ognibene A., Vaghi M., Monforte A. D., Merlini E., Miraglia F. G., Mondelli M. U., Mantovani S., Ludovisi S., Girardis M., Venturelli S., Sita M., Cossarizza A., Antinori A., Vergori A., Emiliozzi A., Rusconi S., Siano M., Gabrieli A., Riva A., Francisci D., Schiaroli E., Paciosi F., 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., Monica M. D., Piscopo C., Capasso M., Russo R., Andolfo I., Iolascon A., Fiorentino G., Carella M., Castori M., Merla G., Aucella F., Raggi P., Marciano C., Perna R., Bassetti M., Di Biagio A., Sanguinetti M., Masucci L., Valente S., Mencarelli M. A., Lo Rizzo C., Bargagli E., Mandala M., Giorli A., Salerni L., Zucchi P., Parravicini P., Menatti E., Trotta T., Giannattasio F., Coiro G., Lena F., Coviello D. A., Mussini C., Bosio G., Martinelli E., Mancarella S., Tavecchia L., Crotti L., Parati G., Aguilera-Albesa S., Albu S., Casasnovas C., Velez-Santamaria V., Horcajada J. P., Villar J., Rodriguez-Palmero A., Ruiz M., Seijo L. M., Troya J., Valencia-Ramos J., and Gut M.

Abstract

Background: While SARS-CoV-2 similarly infects men and women, COVID-19 outcome is less favorable in men. Variability in COVID-19 severity may be explained by differences in the host genome. Methods: We compared poly-amino acids variability from WES data in severely affected COVID-19 patients versus SARS-CoV-2 PCR-positive oligo-asymptomatic subjects. Findings: Shorter polyQ alleles (≤22) in the androgen receptor (AR) conferred protection against severe outcome in COVID-19 in the first tested cohort (both males and females) of 638 Italian subjects. The association between long polyQ alleles (≥23) and severe clinical outcome (p = 0.024) was also validated in an independent cohort of Spanish men <60 years of age (p = 0.014). Testosterone was higher in subjects with AR long-polyQ, possibly indicating receptor resistance (p = 0.042 Mann-Whitney U test). Inappropriately low serum testosterone level among carriers of the long-polyQ alleles (p = 0.0004 Mann-Whitney U test) predicted the need for intensive care in COVID-19 infected men. In agreement with the known anti-inflammatory action of testosterone, patients with long-polyQ and age ≥60 years had increased levels of CRP (p = 0.018, not accounting for multiple testing). Interpretation: We identify the first genetic polymorphism that appears to predispose some men to develop more severe disease. Failure of the endocrine feedback to overcome AR signaling defects by increasing testosterone levels during the infection leads to the polyQ tract becoming dominant to serum testosterone levels for the clinical outcome. These results may contribute to designing reliable clinical and public health measures and provide a rationale to test testosterone as adjuvant therapy in men with COVID-19 expressing long AR polyQ repeats. Funding: MIUR project “Dipartimenti di Eccellenza 2018-2020” to Department of Medical Biotechnologies University of Siena, Italy (Italian D.L. n.18 March 17, 2020) and “Bando Ricerca COVID-19 Toscana” project

Published
2021

25. Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males

Author

Baldassarri M., Picchiotti N., Fava F., Fallerini C., Benetti E., Daga S., Valentino F., Doddato G., Furini S., Giliberti A., Tita R., Amitrano S., Bruttini M., Croci S., Meloni I., Pinto A. M., Iuso N., Gabbi C., Sciarra F., Venneri M. A., Gori M., Sanarico M., Crawley F. P., Pagotto U., Fanelli F., Mezzullo M., Dominguez-Garrido E., Planas-Serra L., Schluter A., Colobran R., Soler-Palacin P., Lapunzina P., Tenorio J., Pujol A., Castagna M. G., Marcelli M., Isidori A. M., Renieri A., Frullanti E., Mari F., Montagnani F., Di Sarno L., Tommasi A., Palmieri M., Fabbiani M., Rossetti B., Zanelli G., Sestini F., Bergantini L., D'Alessandro M., Cameli P., Bennett D., Anedda F., Marcantonio S., Scolletta S., Franchi F., Mazzei M. A., 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., Caldarelli G. P., Spagnesi M., Piacentini P., Bandini M., Desanctis E., Cappelli S., Canaccini A., Verzuri A., Anemoli V., Ognibene A., Vaghi M., Monforte A. D., Merlini E., Miraglia F. G., Mondelli M. U., Mantovani S., Ludovisi S., Girardis M., Venturelli S., Sita M., Cossarizza A., Antinori A., Vergori A., Emiliozzi A., Rusconi S., Siano M., Gabrieli A., Riva A., Francisci D., Schiaroli E., Paciosi F., 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., Monica M. D., Piscopo C., Capasso M., Russo R., Andolfo I., Iolascon A., Fiorentino G., Carella M., Castori M., Merla G., Aucella F., Raggi P., Marciano C., Perna R., Bassetti M., Di Biagio A., Sanguinetti M., Masucci L., Valente S., Mencarelli M. A., Lo Rizzo C., Bargagli E., Mandala M., Giorli A., Salerni L., Zucchi P., Parravicini P., Menatti E., Trotta T., Giannattasio F., Coiro G., Lena F., Coviello D. A., Mussini C., Bosio G., Martinelli E., Mancarella S., Tavecchia L., Crotti L., Parati G., Aguilera-Albesa S., Albu S., Casasnovas C., Velez-Santamaria V., Horcajada J. P., Villar J., Rodriguez-Palmero A., Ruiz M., Seijo L. M., Troya J., Valencia-Ramos J., Gut M., Institut Català de la Salut, [Baldassarri M, Fallerini C] Medical Genetics, University of Siena, Italy. Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Italy. [Picchiotti N] University of Siena, DIISM-SAILAB, Siena, Italy. Department of Mathematics, University of Pavia, Pavia, Italy. [Fava F] Medical Genetics, University of Siena, Italy. Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Italy. Genetica Medica, Azienda Ospedaliero-Universitaria Senese, Italy. [Benetti E] Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Italy. [Colobran R] Servei d’Immunologia, Àrea de Genètica, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [Soler-Palacin P] Unitat de Patologia Infecciosa i Immunodeficiències de Pediatria, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Baldassarri M., Picchiotti N., Fava F., Fallerini C., Benetti E., Daga S., Valentino F., Doddato G., Furini S., Giliberti A., Tita R., Amitrano S., Bruttini M., Croci S., Meloni I., Pinto A.M., Iuso N., Gabbi C., Sciarra F., Venneri M.A., Gori M., Sanarico M., Crawley F.P., Pagotto U., Fanelli F., Mezzullo M., Dominguez-Garrido E., Planas-Serra L., Schluter A., Colobran R., Soler-Palacin P., Lapunzina P., Tenorio J., Pujol A., Castagna M.G., Marcelli M., Isidori A.M., Renieri A., Frullanti E., Mari F., Montagnani F., Di Sarno L., Tommasi A., Palmieri M., Fabbiani M., Rossetti B., Zanelli G., Sestini F., Bergantini L., D'Alessandro M., Cameli P., Bennett D., Anedda F., Marcantonio S., Scolletta S., Franchi F., Mazzei M.A., 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., Caldarelli G.P., Spagnesi M., Piacentini P., Bandini M., Desanctis E., Cappelli S., Canaccini A., Verzuri A., Anemoli V., Ognibene A., Vaghi M., Monforte A.D., Merlini E., Miraglia F.G., Mondelli M.U., Mantovani S., Ludovisi S., Girardis M., Venturelli S., Sita M., Cossarizza A., Antinori A., Vergori A., Emiliozzi A., Rusconi S., Siano M., Gabrieli A., Riva A., Francisci D., Schiaroli E., Paciosi F., 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., Monica M.D., Piscopo C., Capasso M., Russo R., Andolfo I., Iolascon A., Fiorentino G., Carella M., Castori M., Merla G., Aucella F., Raggi P., Marciano C., Perna R., Bassetti M., Di Biagio A., Sanguinetti M., Masucci L., Valente S., Mencarelli M.A., Lo Rizzo C., Bargagli E., Mandala M., Giorli A., Salerni L., Zucchi P., Parravicini P., Menatti E., Trotta T., Giannattasio F., Coiro G., Lena F., Coviello D.A., Mussini C., Bosio G., Martinelli E., Mancarella S., Tavecchia L., Crotti L., Parati G., Aguilera-Albesa S., Albu S., Casasnovas C., Velez-Santamaria V., Horcajada J.P., Villar J., Rodriguez-Palmero A., Ruiz M., Seijo L.M., Troya J., Valencia-Ramos J., Gut M., Baldassarri, M., Picchiotti, N., Fava, F., Fallerini, C., Benetti, E., Daga, S., Valentino, F., Doddato, G., Furini, S., Giliberti, A., Tita, R., Amitrano, S., Bruttini, M., Croci, S., Meloni, I., Pinto, A. M., Iuso, N., Gabbi, C., Sciarra, F., Venneri, M. A., Gori, M., Sanarico, M., Crawley, F. P., Pagotto, U., Fanelli, F., Mezzullo, M., Dominguez-Garrido, E., Planas-Serra, L., Schluter, A., Colobran, R., Soler-Palacin, P., Lapunzina, P., Tenorio, J., Pujol, A., Castagna, M. G., Marcelli, M., Isidori, A. M., Renieri, A., Frullanti, E., Mari, F., Montagnani, F., Di Sarno, L., Tommasi, A., Palmieri, M., Fabbiani, M., Rossetti, B., Zanelli, G., Sestini, F., Bergantini, L., D'Alessandro, M., Cameli, P., Bennett, D., Anedda, F., Marcantonio, S., Scolletta, S., Franchi, F., Mazzei, M. A., 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., Caldarelli, G. P., Spagnesi, M., Piacentini, P., Bandini, M., Desanctis, E., Cappelli, S., Canaccini, A., Verzuri, A., Anemoli, V., Ognibene, A., Vaghi, M., Monforte, A. D., Merlini, E., Miraglia, F. G., Mondelli, M. U., Mantovani, S., Ludovisi, S., Girardis, M., Venturelli, S., Sita, M., Cossarizza, A., Antinori, A., Vergori, A., Emiliozzi, A., Rusconi, S., Siano, M., Gabrieli, A., Riva, A., Francisci, D., Schiaroli, E., Paciosi, F., 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., Monica, M. D., Piscopo, C., Capasso, M., Russo, R., Andolfo, I., Iolascon, A., Fiorentino, G., Carella, M., Castori, M., Merla, G., Aucella, F., Raggi, P., Marciano, C., Perna, R., Bassetti, M., Di Biagio, A., Sanguinetti, M., Masucci, L., Valente, S., Mencarelli, M. A., Lo Rizzo, C., Bargagli, E., Mandala, M., Giorli, A., Salerni, L., Zucchi, P., Parravicini, P., Menatti, E., Trotta, T., Giannattasio, F., Coiro, G., Lena, F., Coviello, D. A., Mussini, C., Bosio, G., Martinelli, E., Mancarella, S., Tavecchia, L., Crotti, L., Parati, G., Aguilera-Albesa, S., Albu, S., Casasnovas, C., Velez-Santamaria, V., Horcajada, J. P., Villar, J., Rodriguez-Palmero, A., Ruiz, M., Seijo, L. M., Troya, J., Valencia-Ramos, J., Gut, M., Baldassarri, M, Picchiotti, N, Fava, F, Fallerini, C, Benetti, E, Daga, S, Valentino, F, Doddato, G, Furini, S, Giliberti, A, Tita, R, Amitrano, S, Bruttini, M, Croci, S, Meloni, I, Pinto, A, Iuso, N, Gabbi, C, Sciarra, F, Venneri, M, Gori, M, Sanarico, M, Crawley, F, Pagotto, U, Fanelli, F, Mezzullo, M, Dominguez-Garrido, E, Planas-Serra, L, Schluter, A, Colobran, R, Soler-Palacin, P, Lapunzina, P, Tenorio, J, Pujol, A, Castagna, M, Marcelli, M, Isidori, A, Renieri, A, Frullanti, E, Mari, F, Montagnani, F, Di Sarno, L, Tommasi, A, Palmieri, M, Fabbiani, M, Rossetti, B, Zanelli, G, Sestini, F, 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, Caldarelli, G, Spagnesi, M, Piacentini, P, Bandini, M, Desanctis, E, Cappelli, S, Canaccini, A, Verzuri, A, Anemoli, V, Ognibene, A, Vaghi, M, Monforte, A, Merlini, E, Miraglia, F, Mondelli, M, Mantovani, S, Ludovisi, S, Girardis, M, Venturelli, S, Sita, M, Cossarizza, A, Antinori, A, Vergori, A, Emiliozzi, A, Rusconi, S, Siano, M, Gabrieli, A, Riva, A, Francisci, D, Schiaroli, E, Paciosi, F, Scotton, P, Andretta, F, Panese, S, Baratti, S, Scaggiante, R, Gatti, F, Parisi, S, Castelli, F, Quiros-Roldan, E, Antoni, M, Zanella, I, Monica, M, Piscopo, C, Capasso, M, Russo, R, Andolfo, I, Iolascon, A, Fiorentino, G, Carella, M, Castori, M, Merla, G, Aucella, F, Raggi, P, Marciano, C, Perna, R, Bassetti, M, Di Biagio, A, Sanguinetti, M, Masucci, L, Valente, S, Mencarelli, M, Lo Rizzo, C, Bargagli, E, Mandala, M, Giorli, A, Salerni, L, Zucchi, P, Parravicini, P, Menatti, E, Trotta, T, Giannattasio, F, Coiro, G, Lena, F, Coviello, D, Mussini, C, Bosio, G, Martinelli, E, Mancarella, S, Tavecchia, L, Crotti, L, Parati, G, Aguilera-Albesa, S, Albu, S, Casasnovas, C, Velez-Santamaria, V, Horcajada, J, Villar, J, Rodriguez-Palmero, A, Ruiz, M, Seijo, L, Troya, J, Valencia-Ramos, J, and Gut, M

Subjects
0301 basic medicine, Oncology, Male, lcsh:Medicine, Disease, COVID-19 (Malaltia), Severity of Illness Index, Androgen, Hormones, Hormone Substitutes, and Hormone Antagonists::Hormones::Gonadal Hormones::Gonadal Steroid Hormones::Testosterone Congeners::Testosterone [CHEMICALS AND DRUGS], 0302 clinical medicine, Risk Factors, Receptors, virosis::infecciones por virus ARN::infecciones por Nidovirales::infecciones por Coronaviridae::infecciones por Coronavirus [ENFERMEDADES], Testosterone, Other subheadings::/therapeutic use [Other subheadings], Amino Acids, Peptides, and Proteins::Proteins::Receptors, Cytoplasmic and Nuclear::Receptors, Steroid::Receptors, Androgen [CHEMICALS AND DRUGS], Testosterona, Androgen receptor gene, COVID-19, LASSO logistic regression, Viral infection and host genome, WES, Aged, Case-Control Studies, Critical Care, Female, Genome, Human, Humans, Middle Aged, Peptides, Polymorphism, Single Nucleotide, Receptors, Androgen, SARS-CoV-2, Spain, lcsh:R5-920, Genome, Virus Diseases::RNA Virus Infections::Nidovirales Infections::Coronaviridae Infections::Coronavirus Infections [DISEASES], General Medicine, Single Nucleotide, Testosterona - Ús terapèutic, Homes -- Malalties, androgen receptor gene, testosterone, viral infection and host genome, 030220 oncology & carcinogenesis, Cohort, Peptide, aminoácidos, péptidos y proteínas::proteínas::receptores citoplásmicos y nucleares::receptores de esteroides::receptores de andrógenos [COMPUESTOS QUÍMICOS Y DROGAS], Androgens, lcsh:Medicine (General), Case-Control Studie, Research Paper, hormonas, sustitutos de hormonas y antagonistas de hormonas::hormonas::hormonas gonadales::hormonas esteroides gonadales::congéneres de la testosterona::testosterona [COMPUESTOS QUÍMICOS Y DROGAS], Human, medicine.medical_specialty, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Andrògens - Receptors, Internal medicine, Severity of illness, medicine, Adjuvant therapy, Allele, Polymorphism, business.industry, Otros calificadores::/uso terapéutico [Otros calificadores], Public health, Risk Factor, lcsh:R, Case-control study, Androgen receptor, 030104 developmental biology, business, Andrògens
Abstract

Coronavirus SARS-CoV-2; COVID-19; 2019-nCoV; Gen receptor d'andrògens; Infecció vírica i genoma de l’hoste Coronavirus SARS-CoV-2; COVID-19; 2019-nCoV; Gen receptor de andrógenos; Infección viral y genoma del huésped Coronavirus SARS-CoV-2; COVID-19; 2019-nCoV; Androgen receptor gene; Viral infection and host genome Background While SARS-CoV-2 similarly infects men and women, COVID-19 outcome is less favorable in men. Variability in COVID-19 severity may be explained by differences in the host genome. Methods We compared poly-amino acids variability from WES data in severely affected COVID-19 patients versus SARS-CoV-2 PCR-positive oligo-asymptomatic subjects. Findings Shorter polyQ alleles (≤22) in the androgen receptor (AR) conferred protection against severe outcome in COVID-19 in the first tested cohort (both males and females) of 638 Italian subjects. The association between long polyQ alleles (≥23) and severe clinical outcome (p = 0.024) was also validated in an independent cohort of Spanish men

Published
2021

26. P1098: OUTCOME OF FOLLICULAR LYMPHOMA PATIENTS IN MAINTENANCE TREATMENT WITH ANTICD20 MONOCLONAL ANTIBODIES IN SARS-COV2 ERA: RESULTS FROM A MULTICENTER, RETROSPECTIVE- PROSPECTIVE ITALIAN STUDY.

Author

Castellino, A., primary, Castellino, C., additional, Boccomini, C., additional, Clerico, M., additional, Nicoli, P., additional, Vanazzi, A., additional, Fanelli, F., additional, Perrone, T., additional, Marchesi, F., additional, Cocito, F., additional, Merli, M., additional, Bigliardi, S., additional, Mecacci, B., additional, Bozzoli, V., additional, Margiotta-Casaluci, G., additional, Meli, E., additional, Anastasia, A., additional, Farina, L., additional, Annibali, O., additional, Gottardi, D., additional, Zanni, M., additional, Conconi, A., additional, Ciochetto, C., additional, Cenfra, N., additional, Rotondo, F., additional, Ratotti, S., additional, Cuneo, A., additional, Selleri, C., additional, Galimberti, S., additional, and Massaia, M., additional

Published
2022
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27. ETNK1 mutations induce a mutator phenotype that can be reverted with phosphoethanolamine

Author

Fontana, D, Mauri, M, Renso, R, Docci, M, Crespiatico, I, Rost, L, Jang, M, Niro, A, D'Aliberti, D, Massimino, L, Bertagna, M, Zambrotta, G, Bossi, M, Citterio, S, Crescenzi, B, Fanelli, F, Cassina, V, Corti, R, Salerno, D, Nardo, L, Chinello, C, Mantegazza, F, Mecucci, C, Magni, F, Cavaletti, G, Bruheim, P, Rea, D, Larsen, S, Gambacorti-Passerini, C, Piazza, R, Fontana D., Mauri M., Renso R., Docci M., Crespiatico I., Rost L. M., Jang M., Niro A., D'Aliberti D., Massimino L., Bertagna M., Zambrotta G., Bossi M., Citterio S., Crescenzi B., Fanelli F., Cassina V., Corti R., Salerno D., Nardo L., Chinello C., Mantegazza F., Mecucci C., Magni F., Cavaletti G., Bruheim P., Rea D., Larsen S., Gambacorti-Passerini C., Piazza R., Fontana, D, Mauri, M, Renso, R, Docci, M, Crespiatico, I, Rost, L, Jang, M, Niro, A, D'Aliberti, D, Massimino, L, Bertagna, M, Zambrotta, G, Bossi, M, Citterio, S, Crescenzi, B, Fanelli, F, Cassina, V, Corti, R, Salerno, D, Nardo, L, Chinello, C, Mantegazza, F, Mecucci, C, Magni, F, Cavaletti, G, Bruheim, P, Rea, D, Larsen, S, Gambacorti-Passerini, C, Piazza, R, Fontana D., Mauri M., Renso R., Docci M., Crespiatico I., Rost L. M., Jang M., Niro A., D'Aliberti D., Massimino L., Bertagna M., Zambrotta G., Bossi M., Citterio S., Crescenzi B., Fanelli F., Cassina V., Corti R., Salerno D., Nardo L., Chinello C., Mantegazza F., Mecucci C., Magni F., Cavaletti G., Bruheim P., Rea D., Larsen S., Gambacorti-Passerini C., and Piazza R.

Abstract

Recurrent somatic mutations in ETNK1 (Ethanolamine-Kinase-1) were identified in several myeloid malignancies and are responsible for a reduced enzymatic activity. Here, we demonstrate in primary leukemic cells and in cell lines that mutated ETNK1 causes a significant increase in mitochondrial activity, ROS production, and Histone H2AX phosphorylation, ultimately driving the increased accumulation of new mutations. We also show that phosphoethanolamine, the metabolic product of ETNK1, negatively controls mitochondrial activity through a direct competition with succinate at mitochondrial complex II. Hence, reduced intracellular phosphoethanolamine causes mitochondria hyperactivation, ROS production, and DNA damage. Treatment with phosphoethanolamine is able to counteract complex II hyperactivation and to restore a normal phenotype.

Published
2020

28. ETNK1 mutations in atypical chronic myeloid leukemia induce a mutator phenotype that can be reverted with phosphoethanolamine

Author

Fontana, D, Mauri, M, Renso, R, Docci, M, Crespiatico, I, Rost, L, Jang, M, Niro, A, D'Aliberti, D, Massimino, L, Bertagna, M, Zambrotta, G, Bossi, M, Citterio, S, Crescenzi, B, Fanelli, F, Cassina, V, Corti, R, Salerno, D, Nardo, L, Chinello, C, Mantegazza, F, Mecucci, C, Magni, F, Cavaletti, G, Bruheim, P, Rea, D, Larsen, S, Piazza, R, Gambacorti-Passerini, C, Fontana D., Mauri M., Renso R., Docci M., Crespiatico I., Rost L. M., Jang M., Niro A., D'Aliberti D., Massimino L., Bertagna M., Zambrotta G., Bossi M., Citterio S., Crescenzi B., Fanelli F., Cassina V., Corti R., Salerno D., Nardo L., Chinello C., Mantegazza F., Mecucci C., Magni F., Cavaletti G., Bruheim P., Rea D., Larsen S., Piazza R., Gambacorti-Passerini C., Fontana, D, Mauri, M, Renso, R, Docci, M, Crespiatico, I, Rost, L, Jang, M, Niro, A, D'Aliberti, D, Massimino, L, Bertagna, M, Zambrotta, G, Bossi, M, Citterio, S, Crescenzi, B, Fanelli, F, Cassina, V, Corti, R, Salerno, D, Nardo, L, Chinello, C, Mantegazza, F, Mecucci, C, Magni, F, Cavaletti, G, Bruheim, P, Rea, D, Larsen, S, Piazza, R, Gambacorti-Passerini, C, Fontana D., Mauri M., Renso R., Docci M., Crespiatico I., Rost L. M., Jang M., Niro A., D'Aliberti D., Massimino L., Bertagna M., Zambrotta G., Bossi M., Citterio S., Crescenzi B., Fanelli F., Cassina V., Corti R., Salerno D., Nardo L., Chinello C., Mantegazza F., Mecucci C., Magni F., Cavaletti G., Bruheim P., Rea D., Larsen S., Piazza R., and Gambacorti-Passerini C.

Published
2020

33. Transjugular intra-hepatic portosystemic shunt (TIPS) in elderly patients: preliminary analysis of a multicenter retrospective cohort.

Author

Roccarina, D., primary, Turco, L., additional, Campani, C., additional, Saltini, D., additional, Aspite, S., additional, Calvaruso, V., additional, Arena, U., additional, Senzolo, M., additional, Fanelli, F., additional, Caporali, C., additional, Gitto, S., additional, Citone, M., additional, Di Bonaventura, C., additional, Schepis, F., additional, Vizzutti, F., additional, Riggio, O., additional, Burra, P., additional, Villa, E., additional, Cammà, C., additional, Marra, F., additional, and Bianchini, M., additional

Published
2022
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34. Trytophan and Secondary Anorexia

Author

Fanelli, F. Rossi, Laviano, A., Preziosa, I., Cascino, A., Muscaritoli, M., Cangiano, C., Filippini, Graziella Allegri, editor, Costa, Carlo V. L., editor, and Bertazzo, Antonella, editor

Published
1996
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35. Health status is related to testosterone, estrone and body fat: Moving to functional hypogonadism in adult men with HIV

Author

De Vincentis, S., Decaroli, M. C., Fanelli, F., Diazzi, C., Mezzullo, M., Morini, F., Bertani, D., Milic, J., Carli, F., Cuomo, G., Santi, D., Tartaro, G., Tagliavini, S., De Santis, M. C., Roli, L., Trenti, T., Pagotto, U., Guaraldi, G., Rochira, V., and De Vincentis S, Decaroli MC, Fanelli F, Diazzi C, Mezzullo M, Morini F, Bertani D, Milic J, Carli F, Cuomo G, Santi D, Tartaro G, Tagliavini S, De Santis MC, Roli L, Trenti T, Pagotto U, Guaraldi G, Rochira V

Subjects
Adult, Male, Estrone, Health Status, health status, HIV Infections, frailty, comorbidities, Health Statu, Absorptiometry, Photon, HIV, male hypogonadism, testosterone, estradiol, frailty, comorbidities, health status, functional hypogonadism, body fat, estrone, estradiol, Antiretroviral Therapy, Highly Active, Health Status Indicators, Humans, HIV Infection, Testosterone, Health Status Indicator, Prospective Studies, functional hypogonadism, Cross-Sectional Studie, Frailty, Hypogonadism, male hypogonadism, HIV, Multimorbidity, Middle Aged, estrone, body fat, Prospective Studie, Cross-Sectional Studies, Adipose Tissue, testosterone, Body Composition, Human
Abstract

Objective: Hypogonadism is common in HIV-infected men. The relationship between health status, sex steroids and body composition is poorly known in HIV. The aim was to investigate the association between health status (comorbidities/frailty), body composition, and gonadal function in young-to-middle-aged HIV-infected men. Design: Prospective, cross-sectional, observational study. Methods: HIV-infected men aged

Published
2021

40. Consensus definition of sarcopenia, cachexia and pre-cachexia: Joint document elaborated by Special Interest Groups (SIG) “cachexia-anorexia in chronic wasting diseases” and “nutrition in geriatrics”

Author

Muscaritoli, M., Anker, S.D., Argilés, J., Aversa, Z., Bauer, J.M., Biolo, G., Boirie, Y., Bosaeus, I., Cederholm, T., Costelli, P., Fearon, K.C., Laviano, A., Maggio, M., Fanelli, F. Rossi, Schneider, S.M., Schols, A., and Sieber, C.C.

Published
2010
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42. IBRUTINIB IN PATIENTS WITH RELAPSED/REFRACTORY MANTLE CELL LYMPHOMA: REAL LIFE DATA FROM THE 'RETE EMATOLOGICA DEL LAZIO PER I LINFOMI' (RELLI)

Author

Mariani, S, primary, Pelliccia, S, additional, Bianchi, M. P, additional, Di Rocco, A, additional, Petrucci, L, additional, Maiolo, E, additional, Battistini, R, additional, Fanelli, F, additional, Tomei, G, additional, Palombi, F, additional, Papa, E, additional, Pupo, L, additional, Andriani, A, additional, Hoaus, S, additional, Cantonetti, M, additional, Tesei, C, additional, and Tafuri, A, additional

Published
2021
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43. Prevalence, enterotoxigenic potential and antimicrobial resistance of Staphylococcus aureus and methicillin resistant Staphylococcus aureus (MRSA) isolated from Algerian ready to eat foods

Author

Mekhloufi, O.A., Chieffi, D., Hammoudi, A., Bensefia, S.A., Fanelli, F., and Fusco, V.

Subjects
Staphylococcus aureus, staphylococcal enterotoxins, antibiotic resistance, ready to eat foods, methicillin resistant Staphylococcus aureus (MRSA), biochemical phenomena, metabolism, and nutrition, enterotoxin gene cluster (egc), staphylococcal chromosomal cassette (Sccmec), staphylococcal food poisoning
Abstract

Staphylococcus aureus causes a foodborne intoxication due to the production of enterotoxins and shows antimicrobial resistance, as in the case of methicillin-resistant strains (MRSA). Herein, we analyzed 207 ready-to-eat foods collected in Algeria, reporting a S. aureus prevalence of 23.2% (48/207) and respective loads of coagulase positive staphylococci (CPS) ranging from 1.00 0.5 to 5.11 0.24 Log CFU/g. The 48 S. aureus isolates were widely characterized by staphylococcal enterotoxin gene (SEg)-typing and 16S-23S rDNA intergenic spacer region (ISR)-PCR, as well as by detecting tst and mecA genes, genetic determinants of toxic shock syndrome toxin-1 and methicillin resistance, respectively. We found that the S. aureus isolates belonged to seven different SEg-types harboring the following combinations of genes: (1) selW, selX; (2) egc (seG, seI, seM, seN, seO), selW, selX; (3) seA, seH, seK, seQ, selW, selX; (4) seB, selW, selX; (5) seD, selJ, seR, selW, selX; (6) seH, selW, selX, selY; and (7) seA, egc, selW, selX, while among these, 2.1% and 4.2% were tst- and mecA- (staphylococcal chromosomal cassette mec-type IV) positive, respectively. Selected strains belonging to the 12 detected ISR-types were resistant towards antimicrobials including benzylpenicillin, ofloxacin, erythromycin, lincomycin, tetracyclin, kanamycin, oxacillin, and cefoxitin; 8.3% (1/12) were confirmed as MRSA and 16.7% (2/12) were multidrug resistant. The present study shows the heterogeneity of the S. aureus population in Algerian ready-to-eat foods as for their toxigenic potential and antimicrobial resistance, shedding the light on the quality and safety related to the consume of ready-to-eat foods in Algeria.

Published
2021

50. Under-dilated TIPS Associate With Efficacy and Reduced Encephalopathy in a Prospective, Non-randomized Study of Patients With Cirrhosis

Author

Schepis, F, Vizzutti, F, Garcia-Tsao, G, Marzocchi, G, Rega, L, De Maria, N, Di Maira, T, Gitto, S, Caporali, C, Colopi, S, De Santis, M, Arena, U, Rampoldi, A, Airoldi, A, Cannavale, A, Fanelli, F, Mosconi, C, Renzulli, M, Agazzi, R, Nani, R, Quaretti, P, Fiorina, I, Moramarco, L, Miraglia, R, Luca, A, Bruno, R, Fagiuoli, S, Golfieri, R, Torricelli, P, Di Benedetto, F, Belli, L, Banchelli, F, Laffi, G, Marra, F, Villa, E, Schepis F., Vizzutti F., Garcia-Tsao G., Marzocchi G., Rega L., De Maria N., Di Maira T., Gitto S., Caporali C., Colopi S., De Santis M., Arena U., Rampoldi A., Airoldi A., Cannavale A., Fanelli F., Mosconi C., Renzulli M., Agazzi R., Nani R., Quaretti P., Fiorina I., Moramarco L., Miraglia R., Luca A., Bruno R., Fagiuoli S., Golfieri R., Torricelli P., Di Benedetto F., Belli L. S., Banchelli F., Laffi G., Marra F., Villa E., Schepis, F, Vizzutti, F, Garcia-Tsao, G, Marzocchi, G, Rega, L, De Maria, N, Di Maira, T, Gitto, S, Caporali, C, Colopi, S, De Santis, M, Arena, U, Rampoldi, A, Airoldi, A, Cannavale, A, Fanelli, F, Mosconi, C, Renzulli, M, Agazzi, R, Nani, R, Quaretti, P, Fiorina, I, Moramarco, L, Miraglia, R, Luca, A, Bruno, R, Fagiuoli, S, Golfieri, R, Torricelli, P, Di Benedetto, F, Belli, L, Banchelli, F, Laffi, G, Marra, F, Villa, E, Schepis F., Vizzutti F., Garcia-Tsao G., Marzocchi G., Rega L., De Maria N., Di Maira T., Gitto S., Caporali C., Colopi S., De Santis M., Arena U., Rampoldi A., Airoldi A., Cannavale A., Fanelli F., Mosconi C., Renzulli M., Agazzi R., Nani R., Quaretti P., Fiorina I., Moramarco L., Miraglia R., Luca A., Bruno R., Fagiuoli S., Golfieri R., Torricelli P., Di Benedetto F., Belli L. S., Banchelli F., Laffi G., Marra F., and Villa E.

Abstract

Background & Aims: Portosystemic encephalopathy (PSE) is a major complication of trans-jugular intrahepatic porto-systemic shunt (TIPS) placement. Most devices are self-expandable polytetrafluoroethylene-covered stent grafts (PTFE-SGs) that are dilated to their nominal diameter (8 or 10 mm). We investigated whether PTFE-SGs dilated to a smaller caliber (under-dilated TIPS) reduce PSE yet maintain clinical and hemodynamic efficacy. We also studied whether under-dilated TIPS self-expand to nominal diameter over time. Methods: We performed a prospective, non-randomized study of 42 unselected patients with cirrhosis who received under-dilated TIPS (7 and 6 mm) and 53 patients who received PTFE-SGs of 8 mm or more (controls) at referral centers in Italy. After completion of this study, dilation to 6 mm became the standard and 47 patients were included in a validation study. All patients were followed for 6 months; Doppler ultrasonography was performed 2 weeks and 3 months after TIPS placement and every 6 months thereafter. Stability of PTFE-SG diameter was evaluated by computed tomography analysis of 226 patients with cirrhosis whose stent grafts increased to 6, 7, 8, 9, or 10 mm. The primary outcomes were incidence of at least 1 episode of PSE grade 2 or higher during follow up, incidence of recurrent variceal hemorrhage or ascites, incidence of shunt dysfunction requiring TIPS recanalization, and reduction in porto-caval pressure gradient. Results: PSE developed in a significantly lower proportion of patients with under-dilated TIPS (27%) than controls (54%) during the first year after the procedure (P =.015), but the proportions of patients with recurrent variceal hemorrhage or ascites did not differ significantly between groups. No TIPS occlusions were observed. These results were confirmed in the validation cohort. In an analysis of self-expansion of stent grafts, during a mean follow-up period of 252 days after placement, none of the PTFE-SGs self-expanded to t

Published
2018

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