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51. Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

Author

Kuseyri Hübschmann, O. Horvath, G. Cortès-Saladelafont, E. Yıldız, Y. Mastrangelo, M. Pons, R. Friedman, J. Mercimek-Andrews, S. Wong, S.-N. Pearson, T.S. Zafeiriou, D.I. Kulhánek, J. Kurian, M.A. López-Laso, E. Oppebøen, M. Kılavuz, S. Wassenberg, T. Goez, H. Scholl-Bürgi, S. Porta, F. Honzík, T. Santer, R. Burlina, A. Sivri, H.S. Leuzzi, V. Hoffmann, G.F. Jeltsch, K. Hübschmann, D. Garbade, S.F. Assmann, B. Fung, C.-W. Guder, P. Hong, S.T.K. Karall, D. Kato, M. Kavecan, I. Koht, J.A. Kuster, A. Lücke, T. Manti, F. Mir, P. Mühlhausen, C. Önenli Mungan, H.N. Palacios, N.A.J. Ramos, J.A.F. Steel, D. Stevanović, G. Sykut-Cegielska, J. Verbeek, M.M. García-Cazorla, A. Opladen, T. iNTD Registry Study Group

Abstract

Inherited disorders of neurotransmitter metabolism are rare neurodevelopmental diseases presenting with movement disorders and global developmental delay. This study presents the results of the first standardized deep phenotyping approach and describes the clinical and biochemical presentation at disease onset as well as diagnostic approaches of 275 patients from the registry of the International Working Group on Neurotransmitter related Disorders. The results reveal an increased rate of prematurity, a high risk for being small for gestational age and for congenital microcephaly in some disorders. Age at diagnosis and the diagnostic delay are influenced by the diagnostic methods applied and by disease-specific symptoms. The timepoint of investigation was also a significant factor: delay to diagnosis has decreased in recent years, possibly due to novel diagnostic approaches or raised awareness. Although each disorder has a specific biochemical pattern, we observed confounding exceptions to the rule. The data provide comprehensive insights into the phenotypic spectrum of neurotransmitter disorders. © 2021, The Author(s).

Published
2021

52. Correction to: Tocilizumab for patients with COVID-19 pneumonia. The single-arm TOCIVID-19 prospective trial (Journal of Translational Medicine, (2020), 18, 1, (405), 10.1186/s12967-020-02573-9)

Author

Perrone, F., Piccirillo, M. C., Ascierto, P. A., Salvarani, C., Parrella, R., Marata, A. M., Popoli, P., Ferraris, L., Marrocco-Trischitta, M. M., Ripamonti, D., Binda, F., Bonfanti, P., Squillace, N., Castelli, F., Muiesan, M. L., Lichtner, M., Calzetti, C., Salerno, N. D., Atripaldi, L., Cascella, M., Costantini, M., Dolci, G., Facciolongo, N. C., Fraganza, F., Massari, M., Montesarchio, V., Mussini, C., Negri, E. A., Botti, G., Cardone, C., Gargiulo, P., Gravina, A., Schettino, C., Arenare, L., Chiodini, P., Gallo, C., Vitale, M. G., Trojaniello, C., Palla, M., Bianchi, A. A. M., De Feo, G., Miscio, L., Chiodiniy, P., Froldi, M., Menicanti, L., Cuppone, M. T., Gobbo, G., Baldessari, C., Valenti, V., Castelvecchio, S., Poli, F., Giacomazzi, F., Piccinni, R., Annnunziata, M. L., Biondi, A., Bussolari, C., Mazzoleni, M., Giachi, A., Filtz, A., Manini, A., Poletti, E., Masserini, F., Conforti, F., Gaudiano, G., Favero, V., Moroni, A., Viva, T., Fancoli, F., Ferrari, D., Niro, D., Resta, M., Ballotta, A., Poli, M. D., Ranucci, M., Tebaldi, A., Gritti, G., Pasulo, L., Gaglio, L., Del Fabbro, R., Alborghetti, L., Giustinetti, G., Columpsi, P., Cazzaniga, M., Capici, S., Sala, L., Di Sciacca, R., Mosca, G., Pirozzi, M. R., Franceschini, F., Roccaro, A., Salvetti, M., Paini, A., Corda, L., Ricci, C., Tomasoni, L., Nasta, P., Lorenzotti, S., Odolini, S., Foca, E., Roldan, E. Q., Metra, M., Magrini, S., Borghetti, P., Latronico, N., Piva, S., Filippini, M., Tomasi, G., Zuccala, F., Cattaneo, S., Scolari, F., Bossini, N., Gaggiotti, M., Properzi, M., Del Borgo, C., Marocco, R., Belvisi, V., Tieghi, T., De Masi, M., Zuccala, P., Fabietti, P., Vetica, A., Mercurio, V. S., Carraro, A., Fondaco, L., Kertusha, B., Curtolo, A., Del Giudice, E., Lubrano, R., Zotti, M. G., Puorto, A., Ciuffreda, M., Sarni, A., Monteforte, G., Romeo, D., Viola, E., Damiani, C., Barone, A., Mantovani, B., Di Sanzo, D., Gentili, V., Carletti, M., Aiuti, M., Gallo, A., Meliante, P. G., Martellucci, S., Riggio, O., Cardinale, V., Ridola, L., Bragazzi, M. C., Gioia, S., Valenzi, E., Graziosi, C., Bina, N., Fasolo, M., Ricci, S., Gioacchini, M. T., Lucci, A., Corso, L., Tornese, D., Nijhawan, P., Equitani, F., Cosentino, C., Palladino, M., Leonetti, F., Leto, G., Gnessi, C., Campagna, G., Cesareo, R., Marrocco, F., Straface, G., Mecozzi, A., Cerbo, L., Isgro, V., Parrocchia, S., Visconti, G., Casati, G., Ariani, A., Donghi, L., Tacconelli, E., Bertoldi, M., Cattaneo, P., Lambertenghi, L., Motta, L., Omega, L., Albano, G., Scarano, F., De Rosa, A., Buglione, A., Lavoretano, S., Gaglione, G., De Marco, M., Sangiovanni, V., Fusco, F. M., Viglietti, R., Manzillo, E., Rescigno, C., Pisapia, R., Plamieri, G., Maraolo, A., Calabria, G., Catalano, M., Fiorentino, G., Annunziata, A., Polistina, G., Imitazione, P., Mollica, M., Esposito, V., D'Abraccio, M., Punzi, R., Bianco, V., Sbreglia, C., Del Vecchio, R. F., Bordonali, A., Franco, A., Salsi, P., Fontana, M., Virzi, G., Calderone, O., Molteni, A., Gennarini, S., Gnudi, U., Ricci, M. A., Titolo, G., Mensi, G., Vuotto, P., Gasperini, B., Mancini, M., Pasquini, Z., Spanu, P., Clementi, S., Pierini, S., Bokor, D., Gori, D., Ciofetti, M., Caimi, M., Bettazzi, L., Allevi, E., Furiani, S., Capitanio, C., Mastropasqua, B., Fara, C., Pulitano, G., Matsuno, J. S., Porta, F. D., Dolfini, V., Beyene, N. B., Bezzi, M., Novali, M., Viale, P., Tedeschi, S., Pascale, R., Bruno, R., Di Filippo, A., Sachs, M., Oggionni, T., Di Stefano, M., Mengoli, C., Facchini, C., De Nardo, D., Frausini, G., Mucci, L., Tedesco, S., Girolimetti, R., Manfredini, E., Di Carlo, A. M., Espinosa, E., Dennetta, D., Ticinesi, A., Meschi, T., Nouvenne, A., Norbiato, C., Vitale, F., Saracco, M., Codeluppi, M., Fronti, E., Ferrante, P., Nespola, G. A., Francisci, D., Tosti, A., Carbonelli, C. M., Greco, A., Tinti, M. G., Stellini, R., Appiani, C., Reghenzi, P., Poletti, V., Ravaglia, C., Tacconi, D., Malcontenti, C., Sainaghi, P. P., Landi, R., Vassia, V., Rizzi, E., Bellan, M., Rossati, A., Castello, L., Mastroianni, C. M., Russo, G., Toffoletto, F., Serino, F. S., Brollo, L., Momesso, E., Turati, M. L., Monforte, A. D., Marchetti, G., Boni, F., Teopompi, E., Trenti, C., Boracchia, L., Minelli, E., Ghidoni, G., Matei, A., Caruso, A., Arcoleo, G., Camarda, G., Catalano, F., Spatafora, M., Bettega, D., Andreoni, M., Teti, E., Sarmati, L., Di Lorenzo, A., Celeste, M., Baratto, F., Monticelli, J., Criveller, P., Antonini, A., Anselmo, Riccio, Castellano, M., Cappelli, C., Corvini, F., Zanini, B., Crippa, M., Ronconi, M., Costa, R., Casella, S., Brentana, L., Bernardi, L., Frascati, A., Panese, S., Presotto, F., Michieletto, L., Bernardi, C., Fusar, M., Agnoletti, V., Farina, M., Russo, Lavorini, F., Ginanni, R., Palmieri, F., Mosti, S., Amaglio, A., Cattaneo, A., Cirri, S., Montisci, A., Gallazzi, C., Cosseta, D., Baronio, B., Rampa, L., Maggi, P., Messina, V., Sabatti, M. C., Palumbo, M., Mazzone, A., Faggioli, P., Bussini, L., Fornaro, G., Volpato, F., Imperiale, D., Manno, E., Ferreri, E., Martelli, D., Verhovez, A., Giorgis, S., Faccio, L., Delli Quadri, R., Negro, C., Converso, M., Bosco, F., Amadosi, S., Prandini, P., Cocchi, S., Manfrin, V., Del Punta, V., Mazzola, G., Sportato, G., Romagnoli, M., Cristini, F., Facondini, F., Perin, T., Boschi, A., Meschiari, M., Guaraldi, G., Modica, S., Moneta, S., Boccalatte, D., Marchetti, V., Amadasi, S., Ebbreo, G., Dale, M., Tura, P., Rizzoni, D., Boari, G. E. M., Bonetti, S., Marini, E., Daniele, I., Grossi, P. A., Delfrate, N. W., Bernhart, O., Spizzo, G., Mahlknecht, K., Volkl, T., Di Pietro, M. A., Trezzi, M., Monacci, C., Peris, A., Bonizzoli, M., Cavanna, L., Moroni, C., Stroppa, E. M., Savio, M. C., Gatti, F., Bartolaminelli, C., Petrosillo, N., Donno, D. R., Taglietti, F., Topino, S., Chinello, P., Galati, V., D'Offizi, G., Taibi, C., Cimolato, B., Moroni, F., Palagano, N., Pelagatti, L., Seravalle, C., Landini, G., Amitrano, M., Raimondo, M., Mangiacapra, S., Romano, A., Atteno, M., Blanc, P., Suardi, L. R., Pallotto, C., Casinelli, K., Uccella, I., Harari, S., Caminati, A., Lipani, F., Di Perri, G., Calcagno, A., Calleri, G., Montrucchio, C., Caputo, A. M., Cozzio, S., Delle Donne, L., Bassetti, M., Malgorzata, M., Nicolini, L. A., Russo, C., Sepulcri, C., Beltramini, S., Mina, F., Puoti, M., Gandino, A., Langer, T., D'Amico, F., Berlendis, M., Rocchetti, C., Cettolo, F., Fausini, G., Bocchi, P., Cioni, G., Cappi, C., Corcione, S., De Rosa, F. G., Scabini, S., Canta, F., Mornese Pinna, S., Pensa, A., Rocco, M., Cirasa, M. T., Spinicci, M., Mencarini, J., Zammarchi, L., Cenderello, G., Sciole, K., Bassi, F., Bianchi, M., Frigerio, S., Spaziani, S., Nucera, A., Rizzardini, G., Cossu, M. V., Antivalle, M., Carpinteri, G., Macheda, S., Labate, D., Bottiroli, M., Erne, E. M., Cristina, Z., Di Biase, V., Malberti, F., Montani, G., Poisa, P., Bettini, D., Cauda, R., Ciccullo, A., Riccardi, N., Angheben, A., Turrini, M., Clerici, R., Gardellini, A., Liparulo, L., Rossini, T., Ucciferri, C., Cipollone, F., Vecchiet, J., Nico, A., Marra, L., Leone, A., Sdanganelli, A., Palmiotti, G. A., D'Alagni, G., Santantonio, T. A., Lo Caputo, S., Bottalico, I., Ponticiello, A., Di Perna, F., Bernardi, E., Beltrame, A., Bravi, S., David, M., Bernardi, P., Galante, D., Uccelli, M. C., Prestini, K., Drera, M., Zini, E., Peregrinelli, A., Blanzuoli, L., Benedetti, V., Calvi, R., Scaglione, N., Nallino, G., Bonazzi, M., Crespi, T., Masolin, T., Regazzetti, A., Cerri, M. C., Maffezzini, E., Piazza, M., Papetti, C., De Filippi, C., Roveda, E., Cipolla, G., Scozzafava, M., Crepaldi, M., Henchi, S., Vanoni, N., Repossi, A., Vezzoli, M., Scorletti, E., Perugini, O., Pasini, S. M., Pacetti, V., Ferrari, L., de Paduanis, G. A., del Duca, S., Dell'Ara, F., Brocchieri, A., Minoja, G., Storti, E., Pitagora, L., Costa, I., Delfanti, F., Orlandi, M., Ruggeri, R., Ruggieri, L., Livigni, S., Silengo, D., Ageno, W., Pedrini, L., Artiol, S., Morbidoni, L., De Donno, G., Ravagnani, V., Inglese, F., Scotton, P. G., Costantini, P., Delucchi, M., Clini, E., Ansuini, A., Baiocchi, M., Lain, G., Vincenzo, B., Rastelli, G., Doria, A., Vianello, A., Cattelan, A. M., Bindoli, S., Felicietti, M., Canetta, C., Scartabellati, A., Accordino, S., Ferrara, M., Cocco, L., Cirillo, F., Pace, E., De Caro, M., Alberico, M., Benigni, G., Damiano, T., Fusco, P., Iuorio, A., Torretta, G., Racagni, M., Muttini, S., Sala, G., Ghiringhelli, P., Chiumiento, F., Baccari, L., Bocchi, F., Benatti, F., Catellani, J., Coppola, M., Papi, A., Bosco, E., Lazzeri, C., Cesira, N., Puttini, C., Carli, T., Croci, L., Corridi, M., Arlotti, M., Guerrini, G., Cola, L., Romanelli, M., Bonifazi, M., Gasparini, S., Mei, F., Cerutti, E., Lacedonia, D., Santoro, A., Guidelli, G. M., Greco, S., Castellan, A., Infantino, G., Camici, L., Covani Frigieri, F. C., Pavoni, V., Migliori, L., Rossetti, B., Montagnini, F., Mauro, I., Genovese, E., Capuozzo, A., Vitiello, L., Sirignano, E., Gnesin, P., Servillo, G., Marinelli, A., Pasero, D., Babudieri, S., Madeddu, G., De Vito, A., Casadio, L., Ranghitta, M., Passalacqua, R., Fioravanti, A., Gentile, I., Buonomo, A. R., Scotto, R., Zappulo, E., Dell'Aquila, G., Bianchetti, A., Guerini, F., Vallone, A., Oppedisano, P., Pusterla, L., Giglio, O., Sartori, E., Zanardini, C., Gatti, P., Valiani, V., Piconi, S., Molteni, C., Dognini, G., Cosimo, F., Guarneri, L., Pulvirenti, F., Mondino, V., Traballi, G., Iemoli, E., Grisolia, A., Giorgi, R., Nucera, G., Raffaelli, V., Marino, P., Negro, E., Serati, L., Tamanini, S., Iacobello, C., Strano, G., Boglione, L., Catania, A., Gipponi, P., Di Cato, L., Panaccione, A., Vitale, G., Crippa, I. A., Giacomini, M., Basile, A., Bellone, A., Tundo, P., Buzzigoli, S., Palmiero, G., Magnaca, A., Silva, M., Ricci, M., Crespi, S., Pasquino, B., Consales, G., Bragantini, D., Mastroianni, F., Righetti, G., Scarafino, A., Bitetto, M., Franzetti, F., Piga, S., Delmonte, V., Carbonara, S., Losappio, R., Dejaco, C., Mastroianni, C., Del Bono, V., Gilioli, F., Barzan, D., De Struppi, S., Carlotto, A., Guadagnin, M. L., Girardis, M., Bertellini, E., Dentali, F., Foresta, G., Baratta, A., Viviani, R., Agrati, A. M., Perego, G. B., Montineri, A., Manuele, R., Bonfante, S., Aquilini, D., Prozzo, A., Santopuoli, D., Di Rosa, Z., Alborghetti, A., Peci, P., Bakhtadze, N., Pandini, C. S., Ashofarir, N., Casella, G., Spagnolli, W., Urru, S., Marchesoni, I., Caminiti, G., Argilloni, E., Danieli, E., Ghirardi, G., Antonioli, C. M., Lipari, A., Zavarise, P., Kokaly, F., Polati, E., Gottin, L., Lucernoni, P., De Conti, F., Marcon, E., Pontali, E., Vacca, E. B., Saffioti, C., Zunino, A., Pognuz, E. R., Berlot, G., Saltori, M., Tedesco, A., Agostini, C., Di Rosolini, M. A., Marino, F., Bellinzona, G., Grassi, W., Di Carlo, M., Scimonello, G., Nonini, S., Mondino, M., Mantovani, L. F., Tenti, E., Tropea, C. M. G., Di Stefano, D. E., Guelfi, P., Dagna, L., Morgana, G., Montemurro, L., Girelli, D., Crisafulli, E., Maroccia, A., Cemuschi, A. M., Bernasconi, M., Zummo, U., Barbato, V., Bevilacqua, S., Buonfanti, G., Canzanella, G., De Matteis, G., Florio, M., Martino, M., Ribecco, M. T., Romano, F., Savio, A., Sparavigna, L., Curvietto, M., Citarella, M., Nava, V., Maggioni, P., Magni, M., Iommelli, C., Bianco, A., Corsini, R., Valli, L., Ruggieri, M. P., Melica, T., Ferrari, A., Cicognini, D., Delliponti, M., Zuccarini, A., Ciani, S., Raffaeli, D., Donati, L., Cannizzo, S., Lui, S., Santini, L., Roncaglia, E., Mighali, P., Eisendle, F., Cerino, G., Citterio, C., Di Nunzio, C., Mancini, A., Lamonica, S., Resimini, S., Sarteschi, G., Pavei, C., Battistini, N., Gazzola, O. E., Miceli, M., Pontiggia, S., Lonati, V., Giannandrea, G., Sortino, C., Ravani, S., Uggeri, C., Jocolle, G., Bare, C., Baroni, I., De Candia, D., Fiorini, B., Chierico, K., Romeo, F., Bottega, R., Boccasile, L., Corsaro, A., Spadoni, C., Chiari, S., Ercolino, G., Dell'Uomo, V., Viri, S., Minato, M., Gazzola, L., Dorina, B., Gianelli, D., Maspero, S., Farinazzo, M., Zanini, P., Sangiovanni, A., Del Giudice, A., Dragonetti, M. M., Bordignon, S., Machiavelli, A. M., Chiodelli, G., Spatarella, M., Zenoni, D., Beretta, F. N., Santilli, G., Badagliacca, R., Angileri, M., Giannelli, L., Campomori, A., Maimone, P., Fadda, A., Faoro, S., Pisterna, A., Cacopardo, B., Marino, A., Pampaloni, A., Celesia, B. M., Cinnella, G., Labella, D., Caporusso, R. R., Danzi, M., Fiscon, M., Malena, M., Fendt, D., Nardi, S., Stobbione, P., Savi, M. L., De Monte, A., Scala, A., Liberato, N. L., Luchi, S., Vincenti, A., Cabrini, L., Pinelli, G., Brugioni, L., Potenza, D., Numis, F. G., Porta, G., D'Amico, M., Iengo, B., Angarano, G., Saracino, A., Blasi, L., De Negri, P., Angelici, S., Farina, A., Martino, G. P., Bitti, G., Tedeschi, A., De Ponti, S., Agostinone, A., Parruti, G., Consorte, A., Frattari, A., Filippelli, A., Pagliano, P., Masullo, A., Sellitto, C., Reta, M., Rossi, N., Raumer, L., Andreassi, S., Brancaleoni, P., Carai, A., Salerno, A. M., Marinangeli, F., Mariani, R., Ciccone, A., Meschini, C., Santoboni, G., Angrisani, C., Micarelli, D., Tarquini, G., Fregoni, V., Volta, C. A., Cherubini, A., Del Prete, M. S., Ciarrochi, E., Tasca, F., Ballarin, A., Bianchin, A., Flocco, R., Cuzzone, V., Carpinteri, M., Gallotti, P., Torre, F., Zannetti, P., Crapis, M., Venturini, S., Barattini, M., Gori, G., Mastroianni, A., De Stefano, G., Gilio, M., Rapisarda, G., Gulisano, L., Granata, M. L., Saglimbene, S., Montalto, M. T., Grasso, I., De Luca, S., Magro, G., Messina, F., Scapino, B., Abrate, P., Francisco, C., Pesce, L., Navarra, M., Agosti, M., Pagani, S., Piluso, M., Ricioppo, A., Tognella, S., Rovere, P., Vincenzi, M., Ghirardi, L., Generali, D., Ingrosso, M., Desiderio, E., Molaro, R., Vitiello, S., Lancione, L., Paone, T. C., Meli, A., Mainardi, S., Rastellino, V., Ursillo, A., di Grigoli, P., Bovetto, E., Stefanetto, I. M., Mazzola, F., Daniele, A., Bisio, C., Delnero, P., Morando, G., Nava, A., Francesco, L., Fiammengo, F., Regis, M., Roccatello, D., Sabato, E., Liccardi, M. M., Bretto, C., Lutri, L., Castenetto, E., Roberti, G., Guidi, M. F., Bini, F., Zappa, M. C., Trequattrini, T., Rivitti, R., Vigliarolo, R., Succu, A., Lilli, M., Serao, M., Giogre, G., Ruggieri, A., Flores, K., Vairo, G., Satira, R., Lingua, A., Spina, R., Nicastri, E., Maffongelli, G., Barreca, F., Scollet, S., Franchi, F., Fabbri, C., Minuz, P., Dalbeni, A., Zanatta, P., Gelormini, D., Mandelli, A., Galderisi, F., Zoia, E., Marchi, M. R., De Almeida Neves, N., Carbone, G., Di Caterino, E., Petrone, A., Usai, C. A., Bandiera, F., Monti, R., Hofer, A., Castiglione, G., Angeletti, C., Tarsia, P., Veronese, L., Artoni, P. D., Larussa, D., Fumagalli, R., Brioschi, P., Cerutti, A., Pasquino, P., Gilberto, F., Cantadori, L., Tomasoni, G., Tomasoni, L. R., Coppola, N., Spolveri, S., Pollastri, C., Fico, L., Principi, T., Pierantozzi, S., Fontana, C., Lubrano, G., Martinelli, L., Navalesi, P., Serra, E., Cogi, E., Manzi, A., Furino, E., Dasseni, N., Gentilini, C., Benatti, E., Pignatti, A., Aiello, G., Milia, M., Covesnon, M. G., Brianti, A., Francesco, C., Ilaria, B., Pagnozzi, F., Mietta, S., Rossi, A., Maroni, L., Borroni, V., Bellintani, C., Sgarabotto, C., Bizzotto, G., Bucci, L., Spagnuolo, G., Agostini, M., Caria, F. C., Testa, F., De Palma, R., Murdaca, G., Zanolini, G., Sala, N., Righini, E., Pontremoli, R., Aondio, G., Riccardi, F., De Cristoforo, M. G., De Michele, F., Storti, A., Perra, R., Deidda, S., Enrica, C., Valastro, F., Pierfranceschi, M. G., De Gennaro, F., Nardecchia, A. L., Castellini, M., Buetto, G., Ippoliti, G., Sicheri, D., Bottoli, M. G., De Arroyabe, B. M. L., Versaci, A., Di Cura Villa Giada Pallotti, C., Civita, M., Grio, M., Liuzzi, N., Molino, P., Pastorelli, M., Ricchiardi, A., Varbella, F., Zeme, A. D., Sighieri, C., Portale, G., Olivetti, A., Pagnoni, C., Moschini, G., Boni, S., Guerra, A., Scudellari, R., Vella, S., Inchiostro, S., Piazza, O., Guarino, S., Aldegheri, G., Napoli, G., Morettini, A., Caldini, E., Menicacci, L., Pieralli, F., Torrini, M., Poggesi, L., Visetti, E. M., Mangano, C., Visconti, S., Maietta, P., Banfi, E., Cartella, S., Venturi, B., Nuceri, A., Chiesa, E., Pacentra, E., Panzolato, G., Giannotti, M., Bianchi, C., Pietrangelo, A., Para, O., Rutili, M. S., Russo, R., Lanfranco, M., Scalabrino, E., Tafuri, A., Perfetti, E., Chiarello, T., Cancanelli, L., Otero, M., Pannella, G., Bellucci, F., Ferrero, G., Vico, C., Stillante, M. S., D'Andrea, G., Amoroso, F., Arcidiacono, A., Bella, A. M., Belsito, A., Berte, Y., Carubia, G., Caruso, M. G., Casella, O., Chiereleson, F., Costa, C., De Franco, D., Germana, G., Messina, A., Musumeci, D., Noto, C., Valenti, M., Sorrentino, C., Panico, R., Schettino, G., Piccoli, J., Pepe, A., De Rosa, F., Ottaviano, M., Marrazzo, G., Raponi, G., Diberardino, S., Bausi, S., Marini, S. F., Giubellino, E., Innocenti, G., Gugliemi, G., Maccari, D., and Baciu, I.

Subjects
tocilizumab, covid 19, pneumonia
Published
2021

53. Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

Author

Hübschmann, O. Kuseyri, Horvath, G., Cortès-Saladelafont, E., Yildiz, Y., Mastrangelo, M., Pons, R., Friedman, J., Mercimek-Andrews, S., Wong, S.N., Pearson, T.S., Zafeiriou, D.I., Kulhánek, J., Kurian, Manju A., López-Laso, E., Oppebøen, M., Kılavuz, S., Wassenberg, T., Goez, H., Scholl-Bürgi, S., Porta, F., Honzík, T., Santer, R., Burlina, A., Sivri, H.S., Leuzzi, V., Hoffmann, G.F., Jeltsch, K., Hübschmann, D., Garbade, S.F., Verbeek, M.M., García-Cazorla, A., Opladen, T., Hübschmann, O. Kuseyri, Horvath, G., Cortès-Saladelafont, E., Yildiz, Y., Mastrangelo, M., Pons, R., Friedman, J., Mercimek-Andrews, S., Wong, S.N., Pearson, T.S., Zafeiriou, D.I., Kulhánek, J., Kurian, Manju A., López-Laso, E., Oppebøen, M., Kılavuz, S., Wassenberg, T., Goez, H., Scholl-Bürgi, S., Porta, F., Honzík, T., Santer, R., Burlina, A., Sivri, H.S., Leuzzi, V., Hoffmann, G.F., Jeltsch, K., Hübschmann, D., Garbade, S.F., Verbeek, M.M., García-Cazorla, A., and Opladen, T.

Abstract

Contains fulltext : 238541.pdf (Publisher’s version ) (Open Access), Inherited disorders of neurotransmitter metabolism are rare neurodevelopmental diseases presenting with movement disorders and global developmental delay. This study presents the results of the first standardized deep phenotyping approach and describes the clinical and biochemical presentation at disease onset as well as diagnostic approaches of 275 patients from the registry of the International Working Group on Neurotransmitter related Disorders. The results reveal an increased rate of prematurity, a high risk for being small for gestational age and for congenital microcephaly in some disorders. Age at diagnosis and the diagnostic delay are influenced by the diagnostic methods applied and by disease-specific symptoms. The timepoint of investigation was also a significant factor: delay to diagnosis has decreased in recent years, possibly due to novel diagnostic approaches or raised awareness. Although each disorder has a specific biochemical pattern, we observed confounding exceptions to the rule. The data provide comprehensive insights into the phenotypic spectrum of neurotransmitter disorders.

Published
2021

54. Supplementary material to: Long-term efficacy of T3 analogue Triac in children and adults with MCT8 deficiency: a real-life retrospective cohort study

Author

Geest, F.S. (Ferdy) van, Groeneweg, S. (Stefan), Akker, E.L.T. (Erica) van den, Bacos, I. (Iuliu), Barca, D. (Diana), Berg, S.A.A. (Sjoerd) van den, Bertini, E. (Enrico), Brunner, D. (Doris), Brunetti-Pierri, N. (Nicola), Cappa, M. (Marco), Cappuccio, G. (Gerarda), Chatterjee, K. (Krishna), Chesover, A.D. (Alexander), Christian, P. (Peter), Coutant, R. (Régis), Craiu, D. (Dana), Crock, P. (Patricia), Dewey, C. (Cheyenne), Dica, A. (Alice), Dimitri, P. (Paul), Dubey, R. (Rachana), Enderli, A. (Anina), Fairchild, J. (Jan), Gallichan, J. (Jonathan), Garibaldi, L.R. (Luigi), George, B. (Belinda), Hackenberg, A. (Annette), Heinrich, B. (Bianka), Huynh, Tony (T.), Klosowska, A. (Anna), Lawson-Yuen, A. (Amy), Linder-Lucht, M. (Michaela), Lyons, G. (Greta), Monti Lora, F. (Felipe), Moran, C. (Carla), Müller, K. (Katalin), Paone, L. (Laura), Paul, P.G. (Praveen), Polak, M. (Michel), Porta, F. (Francesco), Reinauer, C. (Christina), Rijke, Y.B. (Yolanda) de, Seckold, R. (Rowen), Seven Menevse, T. (Tuba), Simm, P. (Peter), Simon, A. (Anna), Spada, M. (Marco), Stoupa, A. (Athanasia), Szeifert, L. (Lilla), Tonduti, D. (Davide), Toor, H. (Hans) van, Turan, S. (Serap), Vanderniet, J. (Joel), Waart, M. (Monique) de, Wal, R. (Ronald) van der, Walt, A. (Adri) van der, Wermeskerken, A-M. (Anne-Marie) van, Wierzba, J. (Jolanta), Zibordi, F. (Federica), Zung, A. (Amnon), Peeters, R.P. (Robin), Visser, W.E. (Edward), Geest, F.S. (Ferdy) van, Groeneweg, S. (Stefan), Akker, E.L.T. (Erica) van den, Bacos, I. (Iuliu), Barca, D. (Diana), Berg, S.A.A. (Sjoerd) van den, Bertini, E. (Enrico), Brunner, D. (Doris), Brunetti-Pierri, N. (Nicola), Cappa, M. (Marco), Cappuccio, G. (Gerarda), Chatterjee, K. (Krishna), Chesover, A.D. (Alexander), Christian, P. (Peter), Coutant, R. (Régis), Craiu, D. (Dana), Crock, P. (Patricia), Dewey, C. (Cheyenne), Dica, A. (Alice), Dimitri, P. (Paul), Dubey, R. (Rachana), Enderli, A. (Anina), Fairchild, J. (Jan), Gallichan, J. (Jonathan), Garibaldi, L.R. (Luigi), George, B. (Belinda), Hackenberg, A. (Annette), Heinrich, B. (Bianka), Huynh, Tony (T.), Klosowska, A. (Anna), Lawson-Yuen, A. (Amy), Linder-Lucht, M. (Michaela), Lyons, G. (Greta), Monti Lora, F. (Felipe), Moran, C. (Carla), Müller, K. (Katalin), Paone, L. (Laura), Paul, P.G. (Praveen), Polak, M. (Michel), Porta, F. (Francesco), Reinauer, C. (Christina), Rijke, Y.B. (Yolanda) de, Seckold, R. (Rowen), Seven Menevse, T. (Tuba), Simm, P. (Peter), Simon, A. (Anna), Spada, M. (Marco), Stoupa, A. (Athanasia), Szeifert, L. (Lilla), Tonduti, D. (Davide), Toor, H. (Hans) van, Turan, S. (Serap), Vanderniet, J. (Joel), Waart, M. (Monique) de, Wal, R. (Ronald) van der, Walt, A. (Adri) van der, Wermeskerken, A-M. (Anne-Marie) van, Wierzba, J. (Jolanta), Zibordi, F. (Federica), Zung, A. (Amnon), Peeters, R.P. (Robin), and Visser, W.E. (Edward)

Published
2021

55. Update and, internal and temporal-validation of the FRANCE-2 and ACC-TAVI early-mortality prediction models for Transcatheter Aortic Valve Implantation (TAVI) using data from the Netherlands heart registration (NHR)

Author

Al-Farra, H. (Hatem), Mol, B.A.J.M. de, Ravelli, A.C.J. (Anita C.J.), ter Burg, W.J.P.P. (W. J.P.P.), Houterman, S. (Saskia), Henriques, J.P.S. (José P.S.), Abu-Hanna, A. (Ameen), Vis, M.M. (Marije), Vos, J. (Jeroen), Timmers, L. (L.), Tonino, W.A.L. (Wilhelmus), Schotborgh, C., Roolvink, V. (V.), Porta, F. (F.), Stoel, M.G., Kats, S. (Suzanne), Amoroso, G. (Giovanni), Werf, H.W. (Hindrik) van der, Stella, P.R. (P. R.), de Jaegere, P. (P.), Al-Farra, H. (Hatem), Mol, B.A.J.M. de, Ravelli, A.C.J. (Anita C.J.), ter Burg, W.J.P.P. (W. J.P.P.), Houterman, S. (Saskia), Henriques, J.P.S. (José P.S.), Abu-Hanna, A. (Ameen), Vis, M.M. (Marije), Vos, J. (Jeroen), Timmers, L. (L.), Tonino, W.A.L. (Wilhelmus), Schotborgh, C., Roolvink, V. (V.), Porta, F. (F.), Stoel, M.G., Kats, S. (Suzanne), Amoroso, G. (Giovanni), Werf, H.W. (Hindrik) van der, Stella, P.R. (P. R.), and de Jaegere, P. (P.)

Abstract

Background: The predictive performance of the models FRANCE-2 and ACC-TAVI for early-mortality after Transcatheter Aortic Valve Implantation (TAVI) can decline over time and can be enhanced by updating them on new populations. We aim to update and internally and temporally validate these models using a recent TAVI-cohort from the Netherlands Heart Registration (NHR). Methods: We used data of TAVI-patients treated in 2013–2017. For each original-model, the best update-method (model-intercept, model-recalibration, or model-revision) was selected by a closed-testing procedure. We internally validated both updated models with 1000 bootstrap samples. We also updated the models on the 2013–2016 dataset and temporally validated them on the 2017-dataset. Performance measures were the Area-Under ROC-curve (AU-ROC), Brier-score, and calibration graphs. Results: We included 6177 TAVI-patients, with 4.5% observed early-mortality. The selected update-method for FRANCE-2 was model-intercept-update. Internal validation showed an AU-ROC of 0.63 (95%CI 0.62–0.66) and Brier-score of 0.04 (0.04–0.05). Calibration graphs show that it overestimates early-mortality. In temporal-validation, the AU-ROC was 0.61 (0.53–0.67). The selected update-method for ACC-TAVI was model-revision. In internal-validation, the AU-ROC was 0.63 (0.63–0.66) and Brier-score was 0.04 (0.04–0.05). The updated ACC-TAVI calibrates well up to a probability of 20%, and subsequently underestimates early-mortality. In temporal-validation the AU-ROC was 0.65 (0.58–0.72). Conclusion: Internal-validation of the updated models FRANCE-2 and ACC-TAVI with data from the NHR demonstrated improved performance, which was better than in external-validation studies and comparable to the original studies. In temporal-validation, ACC-TAVI outperformed FRANCE-2 because it suffered less from changes over time.

Published
2021
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56. Childhood cancer in Italy: background, goals, and achievements of the Italian Paediatric Hematology Oncology Association (AIEOP)

Author

Zecca, M., Ferrari, A., Quarello, P., Rabusin, M., Balduzzi, A., Buldini, B., Rostagno, E., Prete, A., Favre, C., Massimino, M., Biondi, A., Porta, F., Biffi, A., Locatelli, Franco, Pession, A., Fagioli, F., Locatelli F. (ORCID:0000-0002-7976-3654), Zecca, M., Ferrari, A., Quarello, P., Rabusin, M., Balduzzi, A., Buldini, B., Rostagno, E., Prete, A., Favre, C., Massimino, M., Biondi, A., Porta, F., Biffi, A., Locatelli, Franco, Pession, A., Fagioli, F., and Locatelli F. (ORCID:0000-0002-7976-3654)

Abstract

This article reviews the primary goals and achievements of the Italian Association for Pediatric Hematology-Oncology (Associazione Italiana Ematologia Oncologia Pediatrica [AIEOP]), a national cooperative group that has been working for children and adolescents with cancer in Italy since 1975.

Published
2021

57. Childhood cancer in Italy: background, goals, and achievements of the Italian Paediatric Hematology Oncology Association (AIEOP)

Author

Zecca, M, Andrea, F, Paola, Q, Rabusin, M, Balduzzi, A, Buldini, B, Rostagno, E, Prete, A, Favre, C, Massimino, M, Biondi, A, Porta, F, Biffi, A, Locatelli, F, Pession, A, Fagioli, F, Zecca, Marco, Andrea, Ferrari, Paola, Quarello, Rabusin, Marco, Balduzzi, Adriana, Buldini, Barbara, Rostagno, Elena, Prete, Arcangelo, Favre, Claudio, Massimino, Maura, Biondi, Andrea, Porta, Fulvio, Biffi, Alessandra, Locatelli, Franco, Pession, Andrea, Fagioli, Franca, Zecca, M, Andrea, F, Paola, Q, Rabusin, M, Balduzzi, A, Buldini, B, Rostagno, E, Prete, A, Favre, C, Massimino, M, Biondi, A, Porta, F, Biffi, A, Locatelli, F, Pession, A, Fagioli, F, Zecca, Marco, Andrea, Ferrari, Paola, Quarello, Rabusin, Marco, Balduzzi, Adriana, Buldini, Barbara, Rostagno, Elena, Prete, Arcangelo, Favre, Claudio, Massimino, Maura, Biondi, Andrea, Porta, Fulvio, Biffi, Alessandra, Locatelli, Franco, Pession, Andrea, and Fagioli, Franca

Abstract

This article reviews the primary goals and achievements of the Italian Association for Pediatric Hematology-Oncology (Associazione Italiana Ematologia Oncologia Pediatrica [AIEOP]), a national cooperative group that has been working for children and adolescents with cancer in Italy since 1975.

Published
2021

58. Update and, internal and temporal-validation of the FRANCE-2 and ACC-TAVI early-mortality prediction models for Transcatheter Aortic Valve Implantation (TAVI) using data from the Netherlands heart registration (NHR)

Author

Al-Farra, Hatem, de Mol, Bas A.J.M., Ravelli, Anita C.J., ter Burg, W. J.P.P., Houterman, Saskia, Henriques, José P.S., Abu-Hanna, Ameen, Vis, M. M., Vos, J., Timmers, L., Tonino, W. A.L., Schotborgh, C. E., Roolvink, V., Porta, F., Stoel, M. G., Kats, S., Amoroso, G., van der Werf, H. W., Stella, P. R., de Jaegere, P., Al-Farra, Hatem, de Mol, Bas A.J.M., Ravelli, Anita C.J., ter Burg, W. J.P.P., Houterman, Saskia, Henriques, José P.S., Abu-Hanna, Ameen, Vis, M. M., Vos, J., Timmers, L., Tonino, W. A.L., Schotborgh, C. E., Roolvink, V., Porta, F., Stoel, M. G., Kats, S., Amoroso, G., van der Werf, H. W., Stella, P. R., and de Jaegere, P.

Abstract

Background: The predictive performance of the models FRANCE-2 and ACC-TAVI for early-mortality after Transcatheter Aortic Valve Implantation (TAVI) can decline over time and can be enhanced by updating them on new populations. We aim to update and internally and temporally validate these models using a recent TAVI-cohort from the Netherlands Heart Registration (NHR). Methods: We used data of TAVI-patients treated in 2013–2017. For each original-model, the best update-method (model-intercept, model-recalibration, or model-revision) was selected by a closed-testing procedure. We internally validated both updated models with 1000 bootstrap samples. We also updated the models on the 2013–2016 dataset and temporally validated them on the 2017-dataset. Performance measures were the Area-Under ROC-curve (AU-ROC), Brier-score, and calibration graphs. Results: We included 6177 TAVI-patients, with 4.5% observed early-mortality. The selected update-method for FRANCE-2 was model-intercept-update. Internal validation showed an AU-ROC of 0.63 (95%CI 0.62–0.66) and Brier-score of 0.04 (0.04–0.05). Calibration graphs show that it overestimates early-mortality. In temporal-validation, the AU-ROC was 0.61 (0.53–0.67). The selected update-method for ACC-TAVI was model-revision. In internal-validation, the AU-ROC was 0.63 (0.63–0.66) and Brier-score was 0.04 (0.04–0.05). The updated ACC-TAVI calibrates well up to a probability of 20%, and subsequently underestimates early-mortality. In temporal-validation the AU-ROC was 0.65 (0.58–0.72). Conclusion: Internal-validation of the updated models FRANCE-2 and ACC-TAVI with data from the NHR demonstrated improved performance, which was better than in external-validation studies and comparable to the original studies. In temporal-validation, ACC-TAVI outperformed FRANCE-2 because it suffered less from changes over time.

Published
2021

65. Hematopoietic stem cell transplantation for CD40 ligand deficiency : Results from an EBMT/ESID-IEWP-SCETIDE-PIDTC study

Author

Ferrua, F., Galimberti, S., Courteille, V., Slatter, M.A., Booth, C., Moshous, D., Neven, B., Blanche, S., Cavazzana, M., Laberko, A., Shcherbina, A., Balashov, D., Soncini, E., Porta, F., Al-Mousa, H., Al-Saud, B., Al-Dhekri, H., Arnaout, R., Formankova, R., Bertrand, Y., Lange, A., Smart, J., Wolska-Kusnierz, B., Aquino, V.M., Dvorak, C.C., Fasth, A., Fouyssac, F., Heilmann, C., Hoenig, M., Schuetz, C., Kelecic, J., Bredius, R.G.M., Lankester, A.C., Lindemans, C.A., Suarez, F., Sullivan, K.E., Albert, M.H., Kalwak, K., Barlogis, V., Bhatia, M., Bordon, V., Czogala, W., Alonso, L., Dogu, F., Gozdzik, J., Ikinciogullari, A., Krivan, G., Ljungman, P., Meyts, I., Mustillo, P., Smith, A.R., Speckmann, C., Sundin, M., Keogh, S.J., Shaw, P.J., Boelens, J.J., Schulz, A.S., Sedlacek, P., Veys, P., Mahlaoui, N., Janda, A., Davies, E.G., Fischer, A., Cowan, M.J., Gennery, A.R., SCETIDE, PIDTC, EBMT, ESID IEWP, Ferrua, F, Galimberti, S, Courteille, V, Slatter, M, Booth, C, Moshous, D, Neven, B, Blanche, S, Laberko, A, Shcherbina, A, Balashov, D, Soncini, E, Porta, F, Al-Mousa, H, Al-Saud, B, Al-Dhekri, H, Arnaout, R, Formankova, R, Bertrand, Y, Lange, A, Smart, J, Wolska-Kusnierz, B, Aquino, V, Dvorak, C, Fasth, A, Fouyssac, F, Heilmann, C, Hoenig, M, Schuetz, C, Kelečić, J, Bredius, R, Lankester, A, Lindemans, C, Suarez, F, Sullivan, K, Albert, M, Kałwak, K, Barlogis, V, Bhatia, M, Bordon, V, Czogala, W, Alonso, L, Dogu, F, Gozdzik, J, Ikinciogullari, A, Kriván, G, Ljungman, P, Meyts, I, Mustillo, P, Smith, A, Speckmann, C, Sundin, M, Keogh, S, Shaw, P, Boelens, J, Schulz, A, Sedlacek, P, Veys, P, Mahlaoui, N, Janda, A, Davies, E, Fischer, A, Cowan, M, and Gennery, A

Subjects
0301 basic medicine, Oncology, medicine.medical_specialty, medicine.medical_treatment, Immunology, Hematopoietic stem cell transplantation, X-Linked Combined Immunodeficiency Diseases, primary immunodeficiency, Donor lymphocyte infusion, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, X-linked hyper-IgM syndrome, Humans, Medicine, Immunology and Allergy, Risk factor, Child, Prospective cohort study, business.industry, Infant, Newborn, Infant, medicine.disease, Treatment Outcome, 030104 developmental biology, medicine.anatomical_structure, Graft-versus-host disease, surgical procedures, operative, Supportive psychotherapy, Child, Preschool, hematopoietic stem cell transplantation, Primary immunodeficiency, Bone marrow, CD40 ligand, business, 030215 immunology
Abstract

BACKGROUND: CD40 ligand (CD40L) deficiency, an X-linked primary immunodeficiency, causes recurrent sinopulmonary, Pneumocystis and Cryptosporidium species infections. Long-term survival with supportive therapy is poor. Currently, the only curative treatment is hematopoietic stem cell transplantation (HSCT). OBJECTIVE: We performed an international collaborative study to improve patients' management, aiming to individualize risk factors and determine optimal HSCT characteristics. METHODS: We retrospectively collected data on 130 patients who underwent HSCT for CD40L deficiency between 1993-2015. We analyzed outcome and variables' relevance with respect to survival and cure. RESULTS: Overall survival (OS), event-free survival (EFS), and disease-free survival (DFS) were 78.2%, 58.1%, and 72.3% 5 years after HSCT. Results were better in transplantations performed in 2000 or later and in children less than 10 years old at the time of HSCT. Pre-existing organ damage negatively influenced outcome. Sclerosing cholangitis was the most important risk factor. After 2000, superior OS was achieved with matched donors. Use of myeloablative regimens and HSCT at 2 years or less from diagnosis associated with higher OS and DFS. EFS was best with matched sibling donors, myeloablative conditioning (MAC), and bone marrow-derived stem cells. Most rejections occurred after reduced-intensity or nonmyeloablative conditioning, which associated with poor donor cell engraftment. Mortality occurred mainly early after HSCT, predominantly from infections. Among survivors who ceased immunoglobulin replacement, T-lymphocyte chimerism was 50% or greater donor in 85.2%. CONCLUSION: HSCT is curative in patients with CD40L deficiency, with improved outcome if performed before organ damage development. MAC is associated with better OS, EFS, and DFS. Prospective studies are required to compare the risks of HSCT with those of lifelong supportive therapy. ispartof: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY vol:143 issue:6 pages:2238-2253 ispartof: location:United States status: published

Published
2019

66. Haploidentical transplantation and posttransplant cyclophosphamide for treating aplastic anemia patients: a report from the EBMT Severe Aplastic Anemia Working Party

Author

Prata, P.H., Eikema, D.J., Afansyev, B., Bosman, P., Smiers, F., Diez-Martin, J.L., Arrais-Rodrigues, C., Koc, Y., Poir?, X., Sirvent, A., Kr?ger, N., Porta, F., Holter, W., Bloor, A., Jubert, C., Ganser, A., Tanase, A., M?nard, A.L., Pioltelli, P., P?rez-Sim?n, J.A., Ho, A., Aljurf, M., Russell, N., Labussiere-Wallet, H., Kerre, T., Rocha, V., Soci?, G., Risitano, A., Dufour, C., Latour, R.P. de, SAA WP EBMT, Prata, P. H., Eikema, D. -J., Afansyev, B., Bosman, P., Smiers, F., Diez-Martin, J. L., Arrais-Rodrigues, C., Koc, Y., Poire, X., Sirvent, A., Kroger, N., Porta, F., Holter, W., Bloor, A., Jubert, C., Ganser, A., Tanase, A., Menard, A. -L., Pioltelli, P., Perez-Simon, J. A., Ho, A., Aljurf, M., Russell, N., Labussiere-Wallet, H., Kerre, T., Rocha, V., Socie, G., Risitano, A., Dufour, C., and Peffault de Latour, R.

Subjects
medicine.medical_specialty, Transplantation Conditioning, Cyclophosphamide, medicine.medical_treatment, Eltrombopag, Graft vs Host Disease, Gastroenterology, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Internal medicine, Medicine, Humans, Cumulative incidence, Prospective Studies, Aplastic anemia, Prospective cohort study, Transplantation, Univariate analysis, Neutrophil Engraftment, business.industry, Hematopoietic Stem Cell Transplantation, Anemia, Aplastic, Immunosuppression, Hematology, medicine.disease, Europe, chemistry, 030220 oncology & carcinogenesis, Transplantation, Haploidentical, business, 030215 immunology, medicine.drug
Abstract

In Press., In the absence of an HLA-matched donor, the best treatment for acquired aplastic anemia patients refractory to immunosuppression is unclear. We collected and analyzed data from all acquired aplastic anemia patients who underwent a haploidentical transplantation with posttransplant cyclophosphamide in Europe from 2011 to 2017 (n = 33). The cumulative incidence of neutrophil engraftment was 67% (CI95%: 51–83%) at D +28 and was unaffected by age group, stem cell source, ATG use, or Baltimore conditioning regimen. The cumulative incidence of grades II–III acute GvHD was 23% at D +100, and limited chronic GvHD was 10% (0–20) at 2 years, without cases of grade IV acute or extensive chronic GvHD. Two-year overall survival was 78% (64–93), and 2-year graft-versus-host disease-free survival was 63% (46–81). In univariate analysis, the 2-year OS was higher among patients who received the Baltimore conditioning regimen (93% (81–100) versus 64% (41–87), p = 0.03), whereas age group, stem cell source, and ATG use had no effect. Our results using unmanipulated haploidentical transplantation and posttransplant cyclophosphamide for treating refractory AA patients are encouraging, but warrant confirmation in a prospective study with a larger number of patients and longer follow-up.

Published
2019

70. POS1141 ASSESSING RELEVANT JOINTS FOR MONITORING CPPD DISEASE: A SYSTEMATIC LITERATURE REVIEW OF IMAGING TECHNIQUES BY THE OMERACT ULTRASOUND – CPPD SUBGROUP

Author

Adinolfi, A., primary, Sirotti, S., additional, Sakellariou, G., additional, Cipolletta, E., additional, Filippucci, E., additional, Porta, F., additional, Sarzi-Puttini, P., additional, Scirè, C. A., additional, Keen, H., additional, Mandl, P., additional, Mouterde, G., additional, Pineda, C., additional, Terslev, L., additional, D’agostino, M. A., additional, Iagnocco, A., additional, and Filippou, G., additional

Published
2021
Full Text
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71. Ultrasonography in psoriatic arthritis: Which sites should we scan?

Author

Zabotti, A, Piga, M, Canzoni, M, Sakellariou, G, Iagnocco, A, Scire, C, Adinolfi, A, Azzolin, I, Bandinelli, F, Batticciotto, A, Boffini, N, Bortoluzzi, A, Carrara, G, Cavatorta, F, Cagnotto, G, Caprioli, M, Colaci, M, De Lucia, O, Delle Sedie, A, Denaro, V, Di Matteo, A, Di Sabatino, V, Epis, O, Hoxha, A, Farina, I, Germano, G, Filippou, G, Filippucci, E, Focherini, M, Gabba, A, Idolazzi, L, La Paglia, G, Luccioli, F, Macchioni, P, Magnani, M, Massarotti, M, Mastaglio, C, Navarini, L, Parisi, S, Diamanti, A, Picerno, V, Piras, M, Porta, F, Possemato, N, Prevete, I, Raffeiner, B, Ramonda, R, Ravagnani, V, Rossi, D, Rossi, S, Scolieri, P, Santoboni, G, Scioscia, C, Terenzi, R, Tinazzi, I, Toscano, C, Venditti, C, Volpe, A, Vukatana, G, Zanframundo, G, Zabotti A., Piga M., Canzoni M., Sakellariou G., Iagnocco A., Scire C. A., Adinolfi A., Azzolin I., Bandinelli F., Batticciotto A., Boffini N., Bortoluzzi A., Carrara G., Cavatorta F. P., Cagnotto G., Caprioli M., Colaci M., De Lucia O., Delle Sedie A., Denaro V., Di Matteo A., Di Sabatino V., Epis O. M., Hoxha A., Farina I., Germano G., Filippou G., Filippucci E., Focherini M. C., Gabba A., Idolazzi L., La Paglia G. M. C., Luccioli F., Macchioni P., Magnani M., Massarotti M., Mastaglio C., Navarini L., Parisi S., Diamanti A. P., Picerno V., Piras M., Porta F., Possemato N., Prevete I., Raffeiner B., Ramonda R., Ravagnani V., Rossi D., Rossi S., Scolieri P., Santoboni G., Scioscia C., Terenzi R., Tinazzi I., Toscano C., Venditti C., Volpe A., Vukatana G., Zanframundo G., Zabotti, A, Piga, M, Canzoni, M, Sakellariou, G, Iagnocco, A, Scire, C, Adinolfi, A, Azzolin, I, Bandinelli, F, Batticciotto, A, Boffini, N, Bortoluzzi, A, Carrara, G, Cavatorta, F, Cagnotto, G, Caprioli, M, Colaci, M, De Lucia, O, Delle Sedie, A, Denaro, V, Di Matteo, A, Di Sabatino, V, Epis, O, Hoxha, A, Farina, I, Germano, G, Filippou, G, Filippucci, E, Focherini, M, Gabba, A, Idolazzi, L, La Paglia, G, Luccioli, F, Macchioni, P, Magnani, M, Massarotti, M, Mastaglio, C, Navarini, L, Parisi, S, Diamanti, A, Picerno, V, Piras, M, Porta, F, Possemato, N, Prevete, I, Raffeiner, B, Ramonda, R, Ravagnani, V, Rossi, D, Rossi, S, Scolieri, P, Santoboni, G, Scioscia, C, Terenzi, R, Tinazzi, I, Toscano, C, Venditti, C, Volpe, A, Vukatana, G, Zanframundo, G, Zabotti A., Piga M., Canzoni M., Sakellariou G., Iagnocco A., Scire C. A., Adinolfi A., Azzolin I., Bandinelli F., Batticciotto A., Boffini N., Bortoluzzi A., Carrara G., Cavatorta F. P., Cagnotto G., Caprioli M., Colaci M., De Lucia O., Delle Sedie A., Denaro V., Di Matteo A., Di Sabatino V., Epis O. M., Hoxha A., Farina I., Germano G., Filippou G., Filippucci E., Focherini M. C., Gabba A., Idolazzi L., La Paglia G. M. C., Luccioli F., Macchioni P., Magnani M., Massarotti M., Mastaglio C., Navarini L., Parisi S., Diamanti A. P., Picerno V., Piras M., Porta F., Possemato N., Prevete I., Raffeiner B., Ramonda R., Ravagnani V., Rossi D., Rossi S., Scolieri P., Santoboni G., Scioscia C., Terenzi R., Tinazzi I., Toscano C., Venditti C., Volpe A., Vukatana G., and Zanframundo G.

Published
2018

72. Identification of calcium pyrophosphate deposition disease (CPPD) by ultrasound: Reliability of the OMERACT definitions in an extended set of joints - An international multiobserver study by the OMERACT Calcium Pyrophosphate Deposition Disease Ultrasound Subtask Force

Author

Filippou, G, Scire, C, Adinolfi, A, Damjanov, N, Carrara, G, Bruyn, G, Cazenave, T, D'Agostino, M, Delle Sedie, A, Di Sabatino, V, Diaz Cortes, M, Filippucci, E, Gandjbakhch, F, Gutierrez, M, Maccarter, D, Micu, M, Moller Parera, I, Mouterde, G, Mortada, M, Naredo, E, Pineda, C, Porta, F, Reginato, A, Satulu, I, Schmidt, W, Serban, T, Terslev, L, Vlad, V, Vreju, F, Zufferey, P, Bozios, P, Toscano, C, Picerno, V, Iagnocco, A, Filippou G., Scire C. A., Adinolfi A., Damjanov N. S., Carrara G., Bruyn G. A. W., Cazenave T., D'Agostino M. A., Delle Sedie A., Di Sabatino V., Diaz Cortes M. E., Filippucci E., Gandjbakhch F., Gutierrez M., Maccarter D. K., Micu M., Moller Parera I., Mouterde G., Mortada M. A., Naredo E., Pineda C., Porta F., Reginato A. M., Satulu I., Schmidt W. A., Serban T., Terslev L., Vlad V., Vreju F. A., Zufferey P., Bozios P., Toscano C., Picerno V., Iagnocco A., Filippou, G, Scire, C, Adinolfi, A, Damjanov, N, Carrara, G, Bruyn, G, Cazenave, T, D'Agostino, M, Delle Sedie, A, Di Sabatino, V, Diaz Cortes, M, Filippucci, E, Gandjbakhch, F, Gutierrez, M, Maccarter, D, Micu, M, Moller Parera, I, Mouterde, G, Mortada, M, Naredo, E, Pineda, C, Porta, F, Reginato, A, Satulu, I, Schmidt, W, Serban, T, Terslev, L, Vlad, V, Vreju, F, Zufferey, P, Bozios, P, Toscano, C, Picerno, V, Iagnocco, A, Filippou G., Scire C. A., Adinolfi A., Damjanov N. S., Carrara G., Bruyn G. A. W., Cazenave T., D'Agostino M. A., Delle Sedie A., Di Sabatino V., Diaz Cortes M. E., Filippucci E., Gandjbakhch F., Gutierrez M., Maccarter D. K., Micu M., Moller Parera I., Mouterde G., Mortada M. A., Naredo E., Pineda C., Porta F., Reginato A. M., Satulu I., Schmidt W. A., Serban T., Terslev L., Vlad V., Vreju F. A., Zufferey P., Bozios P., Toscano C., Picerno V., and Iagnocco A.

Abstract

Objectives: To assess the reliability of the OMERACT ultrasound (US) definitions for the identification of calcium pyrophosphate deposition disease (CPPD) at the metacarpal-phalangeal, triangular fibrocartilage of the wrist (TFC), acromioclavicular (AC) and hip joints. Methods: A web-based exercise and subsequent patient-based exercise were carried out. A panel of 30 OMERACT members, participated at the web-based exercise by evaluating twice a set of US images for the presence/absence of CPPD. Afterwards, 19 members of the panel met in Siena, Italy, for the patient-based exercise. During the exercise, all sonographers examined twice eight patients for the presence/absence of CPPD at the same joints. Intraoberserver and interobserver kappa values were calculated for both exercises. Results: The web-based exercise yielded high kappa values both in intraobserver and interobserver evaluation for all sites, while in the patient-based exercise, inter-reader agreement was acceptable for the TFC and the AC. TFC reached high interobserver and intraobserver k values in both exercises, ranging from 0.75 to 0.87 (good to excellent agreement). AC reached moderate kappa values, from 0.51 to 0.85 (moderate to excellent agreement) and can readily be used for US CPPD identification. Conclusions: Based on the results of our exercise, the OMERACT US definitions for the identification of CPPD demonstrated to be reliable when applied to the TFC and AC. Other sites reached good kappa values in the web-based exercise but failed to achieve good reproducibility at the patient-based exercise, meaning the scanning method must be further refined.

Published
2018

73. Erratum: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies (Orphanet Journal of Rare Diseases (2020) 15: 126 DOI: 10.1186/s13023-020-01379-8)

Author

Opladen, T. López-Laso, E. Cortès-Saladelafont, E. Pearson, T.S. Sivri, H.S. Yildiz, Y. Assmann, B. Kurian, M.A. Leuzzi, V. Heales, S. Pope, S. Porta, F. García-Cazorla, A. Honzík, T. Pons, R. Regal, L. Goez, H. Artuch, R. Hoffmann, G.F. Horvath, G. Thöny, B. Scholl-Bürgi, S. Burlina, A. Verbeek, M.M. Mastrangelo, M. Friedman, J. Wassenberg, T. Jeltsch, K. Kulhánek, J. Kuseyri Hübschmann, O.

Abstract

Following the original article's publication [1] the authors asked for the correction of Fig. 2, since the names of the disease genes [GCH1 and PCBD1] in the figure published did not match the listed diseases [AR-GTPCHD and PCDD]. The correct Fig. 2 isshown below: In the context of the manuscript correction and inorder to match he text content, the words "apart from DHPRD" should be removed from the second row and second column of Table 4, as shown below: (Table Presented). © 2020 The Author(s). Reference.

Published
2020

74. Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies (vol 15, 126, 2020)

Author

Opladen T, López-Laso E, Cortés-Saladelafont E, Pearson TS, Sivri HS, Yildiz Y, Assmann B, Kurian MA, Leuzzi V, Heales S, Pope S, Porta F, Garcia-Cazorla A, Honzík T, Pons R, Regal L, Goez H, Artuch-Iriberri R, Hoffmann GF, Horvath G, Thöny B, Scholl-Bürgi S, Burlina A, Verbeek MM, Mastrangelo M, Friedman J, Wassenberg T, Jeltsch K, Kulhánek J, Kuseyri Hübschmann O, and International Working Group on Neurotransmitter related Disorders (iNTD)

Published
2020

77. Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

Author

Groeneweg, S., Geest, F.S. van, Abaci, A., Alcantud, A., Ambegaonkar, G.P., Armour, C.M., Bakhtiani, P., Barca, D., Bertini, E.S., Beijnum, I.M. van, Brunetti-Pierri, N., Bugiani, M., Cappa, M., Cappuccio, G., Castellotti, B., Castiglioni, C., Chatterjee, K., Coo, I.F.M. de, Coutant, R., Craiu, D., Crock, P., DeGoede, C., Demir, K., Dica, A., Dimitri, P., Dolcetta-Capuzzo, A., Dremmen, M.H.G., Dubey, R., Enderli, A., Fairchild, J., Gallichan, J., George, B., Gevers, E.F., Hackenberg, A., Halasz, Z., Heinrich, B., Huynh, T., Klosowska, A., Knaap, M.S. van der, Knoop, M.M. van der, Konrad, D., Koolen, D.A., Krude, H., Lawson-Yuen, A., Lebl, J., Linder-Lucht, M., Lorea, C.F., Lourenco, C.M., Lunsing, R.J., Lyons, G., Malikova, J., Mancilla, E.E., McGowan, A., Mericq, V., Lora, F.M., Moran, C., Muller, K.E., Oliver-Petit, I., Paone, L., Paul, P.G., Polak, M, Porta, F., Poswar, F.O., Reinauer, C., Rozenkova, K., Menevse, T.S., Simm, P., Simon, A., Singh, Y., Spada, M., Spek, J. van der, Stals, M.A.M., Stoupa, A., Subramanian, G.M., Tonduti, D., Turan, S., Uil, C.A. den, Vanderniet, J., Walt, A. van der, Wemeau, J.L., Wierzba, J., Wit, M.Y. de, Wolf, N.I., Wurm, M., Zibordi, F., Zung, A., Zwaveling-Soonawala, N., Visser, Wesley J., Groeneweg, S., Geest, F.S. van, Abaci, A., Alcantud, A., Ambegaonkar, G.P., Armour, C.M., Bakhtiani, P., Barca, D., Bertini, E.S., Beijnum, I.M. van, Brunetti-Pierri, N., Bugiani, M., Cappa, M., Cappuccio, G., Castellotti, B., Castiglioni, C., Chatterjee, K., Coo, I.F.M. de, Coutant, R., Craiu, D., Crock, P., DeGoede, C., Demir, K., Dica, A., Dimitri, P., Dolcetta-Capuzzo, A., Dremmen, M.H.G., Dubey, R., Enderli, A., Fairchild, J., Gallichan, J., George, B., Gevers, E.F., Hackenberg, A., Halasz, Z., Heinrich, B., Huynh, T., Klosowska, A., Knaap, M.S. van der, Knoop, M.M. van der, Konrad, D., Koolen, D.A., Krude, H., Lawson-Yuen, A., Lebl, J., Linder-Lucht, M., Lorea, C.F., Lourenco, C.M., Lunsing, R.J., Lyons, G., Malikova, J., Mancilla, E.E., McGowan, A., Mericq, V., Lora, F.M., Moran, C., Muller, K.E., Oliver-Petit, I., Paone, L., Paul, P.G., Polak, M, Porta, F., Poswar, F.O., Reinauer, C., Rozenkova, K., Menevse, T.S., Simm, P., Simon, A., Singh, Y., Spada, M., Spek, J. van der, Stals, M.A.M., Stoupa, A., Subramanian, G.M., Tonduti, D., Turan, S., Uil, C.A. den, Vanderniet, J., Walt, A. van der, Wemeau, J.L., Wierzba, J., Wit, M.Y. de, Wolf, N.I., Wurm, M., Zibordi, F., Zung, A., Zwaveling-Soonawala, N., and Visser, Wesley J.

Abstract

Contains fulltext : 220431.pdf (Publisher’s version ) (Closed access), BACKGROUND: Disordered thyroid hormone transport, due to mutations in the SLC16A2 gene encoding monocarboxylate transporter 8 (MCT8), is characterised by intellectual and motor disability resulting from cerebral hypothyroidism and chronic peripheral thyrotoxicosis. We sought to systematically assess the phenotypic characteristics and natural history of patients with MCT8 deficiency. METHODS: We did an international, multicentre, cohort study, analysing retrospective data from Jan 1, 2003, to Dec 31, 2019, from patients with MCT8 deficiency followed up in 47 hospitals in 22 countries globally. The key inclusion criterion was genetically confirmed MCT8 deficiency. There were no exclusion criteria. Our primary objective was to analyse the overall survival of patients with MCT8 deficiency and document causes of death. We also compared survival between patients who did or did not attain full head control by age 1.5 years and between patients who were or were not underweight by age 1-3 years (defined as a bodyweight-for-age Z score <-2 SDs or <5th percentile according to WHO definition). Other objectives were to assess neurocognitive function and outcomes, and clinical parameters including anthropometric characteristics, biochemical markers, and neuroimaging findings. FINDINGS: Between Oct 14, 2014, and Jan 17, 2020, we enrolled 151 patients with 73 different MCT8 (SLC16A2) mutations. Median age at diagnosis was 24.0 months (IQR 12.0-60.0, range 0.0-744.0). 32 (21%) of 151 patients died; the main causes of mortality in these patients were pulmonary infection (six [19%]) and sudden death (six [19%]). Median overall survival was 35.0 years (95% CI 8.3-61.7). Individuals who did not attain head control by age 1.5 years had an increased risk of death compared with patients who did attain head control (hazard ratio [HR] 3.46, 95% CI 1.76-8.34; log-rank test p=0.0041). Patients who were underweight during age 1-3 years had an increased risk for death compared with patients who

Published
2020

78. Children with cancer in the time of COVID-19: An 8-week report from the six pediatric onco-hematology centers in Lombardia, Italy

Author

Ferrari, A, Zecca, M, Rizzari, C, Porta, F, Provenzi, M, Marinoni, M, Schumacher, R, Luksch, R, Terenziani, M, Casanova, M, Spreafico, F, Chiaravalli, S, Compagno, F, Bruni, F, Piccolo, C, Bettini, L, D'Angiò, M, Ferrari, G, Biondi, A, Massimino, M, Balduzzi, A, Ferrari, Andrea, Zecca, Marco, Rizzari, Carmelo, Porta, Fulvio, Provenzi, Massimo, Marinoni, Maddalena, Schumacher, Richard Fabian, Luksch, Roberto, Terenziani, Monica, Casanova, Michela, Spreafico, Filippo, Chiaravalli, Stefano, Compagno, Francesca, Bruni, Federica, Piccolo, Chiara, Bettini, Laura, D'Angiò, Mariella, Ferrari, Giulia Maria, Biondi, Andrea, Massimino, Maura, Balduzzi, Adriana, Ferrari, A, Zecca, M, Rizzari, C, Porta, F, Provenzi, M, Marinoni, M, Schumacher, R, Luksch, R, Terenziani, M, Casanova, M, Spreafico, F, Chiaravalli, S, Compagno, F, Bruni, F, Piccolo, C, Bettini, L, D'Angiò, M, Ferrari, G, Biondi, A, Massimino, M, Balduzzi, A, Ferrari, Andrea, Zecca, Marco, Rizzari, Carmelo, Porta, Fulvio, Provenzi, Massimo, Marinoni, Maddalena, Schumacher, Richard Fabian, Luksch, Roberto, Terenziani, Monica, Casanova, Michela, Spreafico, Filippo, Chiaravalli, Stefano, Compagno, Francesca, Bruni, Federica, Piccolo, Chiara, Bettini, Laura, D'Angiò, Mariella, Ferrari, Giulia Maria, Biondi, Andrea, Massimino, Maura, and Balduzzi, Adriana

Published
2020

79. Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH(4)) deficiencies

Author

Opladen, T., López-Laso, E., Cortès-Saladelafont, E., Pearson, T.S., Sivri, H.S., Yildiz, Y., Assmann, B., Kurian, M.A., Leuzzi, V., Heales, S., Pope, S., Porta, F., García-Cazorla, A., Honzík, T., Pons, R., Regal, L., Goez, H., Artuch, R., Hoffmann, G.F., Horvath, G., Thöny, B., Scholl-Bürgi, S., Burlina, A., Verbeek, M.M., Mastrangelo, M., Friedman, J., Wassenberg, T., Jeltsch, K., Kulhánek, J., Hübschmann, O. Kuseyri, Opladen, T., López-Laso, E., Cortès-Saladelafont, E., Pearson, T.S., Sivri, H.S., Yildiz, Y., Assmann, B., Kurian, M.A., Leuzzi, V., Heales, S., Pope, S., Porta, F., García-Cazorla, A., Honzík, T., Pons, R., Regal, L., Goez, H., Artuch, R., Hoffmann, G.F., Horvath, G., Thöny, B., Scholl-Bürgi, S., Burlina, A., Verbeek, M.M., Mastrangelo, M., Friedman, J., Wassenberg, T., Jeltsch, K., Kulhánek, J., and Hübschmann, O. Kuseyri

Abstract

Contains fulltext : 220626.pdf (publisher's version ) (Open Access), BACKGROUND: Tetrahydrobiopterin (BH(4)) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin due to a disturbance of BH(4) biosynthesis or recycling. Hyperphenylalaninemia (HPA) is the first diagnostic hallmark for most BH(4) deficiencies, apart from autosomal dominant guanosine triphosphate cyclohydrolase I deficiency and sepiapterin reductase deficiency. Early supplementation of neurotransmitter precursors and where appropriate, treatment of HPA results in significant improvement of motor and cognitive function. Management approaches differ across the world and therefore these guidelines have been developed aiming to harmonize and optimize patient care. Representatives of the International Working Group on Neurotransmitter related Disorders (iNTD) developed the guidelines according to the SIGN (Scottish Intercollegiate Guidelines Network) methodology by evaluating all available evidence for the diagnosis and treatment of BH(4) deficiencies. CONCLUSION: Although the total body of evidence in the literature was mainly rated as low or very low, these consensus guidelines will help to harmonize clinical practice and to standardize and improve care for BH(4) deficient patients.

Published
2020

80. Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

Author

Groeneweg, S, van Geest, FS, Abaci, A, Alcantud, A, Ambegaonkar, GP, Armour, CM, Bakhtiani, P, Barca, D, Bertini, ES, van Beynum, IM, Brunetti-Pierri, N, Bugiani, M, Cappa, M, Cappuccio, G, Castellotti, B, Castiglioni, C, Chatterjee, K, de Coo, IFM, Coutant, R, Craiu, D, Crock, P, DeGoede, C, Demir, K, Dica, A, Dimitri, P, Dolcetta-Capuzzo, A, Dremmen, MHG, Dubey, R, Enderli, A, Fairchild, J, Gallichan, J, George, B, Gevers, EF, Hackenberg, A, Halasz, Z, Heinrich, B, Huynh, T, Klosowska, A, van der Knaap, MS, van der Knoop, MM, Konrad, D, Koolen, DA, Krude, H, Lawson-Yuen, A, Lebl, J, Linder-Lucht, M, Lorea, CF, Lourenco, CM, Lunsing, RJ, Lyons, G, Malikova, J, Mancilla, EE, McGowan, A, Mericq, V, Lora, FM, Moran, C, Mueller, KE, Oliver-Petit, I, Paone, L, Paul, PG, Polak, M, Porta, F, Poswar, FO, Reinauer, C, Rozenkova, K, Menevse, TS, Simm, P, Simon, A, Singh, Y, Spada, M, van der Spek, J, Stals, MAM, Stoupa, A, Subramanian, GM, Tonduti, D, Turan, S, den Uil, CA, Vanderniet, J, van der Walt, A, Wemeau, J-L, Wierzba, J, de Wit, M-CY, Wolf, N, Wurm, M, Zibordi, F, Zung, A, Zwaveling-Soonawala, N, Visser, WE, Groeneweg, S, van Geest, FS, Abaci, A, Alcantud, A, Ambegaonkar, GP, Armour, CM, Bakhtiani, P, Barca, D, Bertini, ES, van Beynum, IM, Brunetti-Pierri, N, Bugiani, M, Cappa, M, Cappuccio, G, Castellotti, B, Castiglioni, C, Chatterjee, K, de Coo, IFM, Coutant, R, Craiu, D, Crock, P, DeGoede, C, Demir, K, Dica, A, Dimitri, P, Dolcetta-Capuzzo, A, Dremmen, MHG, Dubey, R, Enderli, A, Fairchild, J, Gallichan, J, George, B, Gevers, EF, Hackenberg, A, Halasz, Z, Heinrich, B, Huynh, T, Klosowska, A, van der Knaap, MS, van der Knoop, MM, Konrad, D, Koolen, DA, Krude, H, Lawson-Yuen, A, Lebl, J, Linder-Lucht, M, Lorea, CF, Lourenco, CM, Lunsing, RJ, Lyons, G, Malikova, J, Mancilla, EE, McGowan, A, Mericq, V, Lora, FM, Moran, C, Mueller, KE, Oliver-Petit, I, Paone, L, Paul, PG, Polak, M, Porta, F, Poswar, FO, Reinauer, C, Rozenkova, K, Menevse, TS, Simm, P, Simon, A, Singh, Y, Spada, M, van der Spek, J, Stals, MAM, Stoupa, A, Subramanian, GM, Tonduti, D, Turan, S, den Uil, CA, Vanderniet, J, van der Walt, A, Wemeau, J-L, Wierzba, J, de Wit, M-CY, Wolf, N, Wurm, M, Zibordi, F, Zung, A, Zwaveling-Soonawala, N, and Visser, WE

Abstract

BACKGROUND: Disordered thyroid hormone transport, due to mutations in the SLC16A2 gene encoding monocarboxylate transporter 8 (MCT8), is characterised by intellectual and motor disability resulting from cerebral hypothyroidism and chronic peripheral thyrotoxicosis. We sought to systematically assess the phenotypic characteristics and natural history of patients with MCT8 deficiency. METHODS: We did an international, multicentre, cohort study, analysing retrospective data from Jan 1, 2003, to Dec 31, 2019, from patients with MCT8 deficiency followed up in 47 hospitals in 22 countries globally. The key inclusion criterion was genetically confirmed MCT8 deficiency. There were no exclusion criteria. Our primary objective was to analyse the overall survival of patients with MCT8 deficiency and document causes of death. We also compared survival between patients who did or did not attain full head control by age 1·5 years and between patients who were or were not underweight by age 1-3 years (defined as a bodyweight-for-age Z score <-2 SDs or <5th percentile according to WHO definition). Other objectives were to assess neurocognitive function and outcomes, and clinical parameters including anthropometric characteristics, biochemical markers, and neuroimaging findings. FINDINGS: Between Oct 14, 2014, and Jan 17, 2020, we enrolled 151 patients with 73 different MCT8 (SLC16A2) mutations. Median age at diagnosis was 24·0 months (IQR 12·0-60·0, range 0·0-744·0). 32 (21%) of 151 patients died; the main causes of mortality in these patients were pulmonary infection (six [19%]) and sudden death (six [19%]). Median overall survival was 35·0 years (95% CI 8·3-61·7). Individuals who did not attain head control by age 1·5 years had an increased risk of death compared with patients who did attain head control (hazard ratio [HR] 3·46, 95% CI 1·76-8·34; log-rank test p=0·0041). Patients who were underweight during age 1-3 years had an increased risk for death compared with patients who

Published
2020

81. Hematopoietic cell transplantation in chronic granulomatous disease: a study of 712 children and adults

Author

Chiesa, R., Wang, J., Blok, H. -J., Hazelaar, S., Neven, B., Moshous, D., Schulz, A., Hoenig, M., Hauck, F., Seraihy, A. A., Gozdzik, J., Ljungman, P., Lindemans, C. A., Fernandes, J. F., Kalwak, K., Strahm, B., Schanz, U., Sedlacek, P., Sykora, K. -W., Aksoylar, S., Locatelli, Franco, Stepensky, P., Wynn, R., Lum, S. H., Zecca, M., Porta, F., Taskinen, M., Gibson, B., Matthes, S., Karakukcu, M., Hauri-Hohl, M., Veys, P., Gennery, A. R., Lucchini, G., Felber, M., Albert, M. H., Balashov, D., Lankester, A., Gungor, T., Slatter, M. A., Locatelli F. (ORCID:0000-0002-7976-3654), Chiesa, R., Wang, J., Blok, H. -J., Hazelaar, S., Neven, B., Moshous, D., Schulz, A., Hoenig, M., Hauck, F., Seraihy, A. A., Gozdzik, J., Ljungman, P., Lindemans, C. A., Fernandes, J. F., Kalwak, K., Strahm, B., Schanz, U., Sedlacek, P., Sykora, K. -W., Aksoylar, S., Locatelli, Franco, Stepensky, P., Wynn, R., Lum, S. H., Zecca, M., Porta, F., Taskinen, M., Gibson, B., Matthes, S., Karakukcu, M., Hauri-Hohl, M., Veys, P., Gennery, A. R., Lucchini, G., Felber, M., Albert, M. H., Balashov, D., Lankester, A., Gungor, T., Slatter, M. A., and Locatelli F. (ORCID:0000-0002-7976-3654)

Abstract

Chronic granulomatous disease (CGD) is a primary immunodeficiency resulting in life-threatening infections and inflammatory complications. Allogeneic hematopoietic cell transplantation (allo-HCT) can cure the disease, but the indication to transplant remains controversial. We performed a retrospective multicenter study of 712 patients with CGD who underwent allo-HCT transplantation from March 1993 through December 2018. We studied 635 children (aged <18 years) and 77 adults. Median follow-up was 45 months. Median age at transplantation was 7 years (range, 0.1-48.6). Kaplan-Meier estimates of overall survival (OS) and event-free survival (EFS) at 3 years were 85.7% and 75.8%, respectively. In multivariate analysis, older age was associated with reduced survival and increased chronic graft-versus-host disease. Nevertheless, OS and EFS at 3 years for patients ‡18 years were 76% and 69%, respectively. Use of 1-antigen-mismatched donors was associated with reduced OS and EFS . No significant difference was found in OS, but a significantly reduced EFS was noted in the small group of patients who received a transplant from a donor with a >1 antigen mismatch. Choice of conditioning regimen did not influence OS or EFS. In summary, we report an excellent outcome after allo-HCT in CGD, with low incidence of graft failure and mortality in all ages. Older patients and recipients of 1-antigen-mismatched grafts had a less favorable outcome. Transplantation should be strongly considered at a younger age and particularly in the presence of a well-matched donor.

Published
2020

82. 'Less is more': validation with Rasch analysis of five short- forms for the Brain Injury Rehabilitation Trust Personality Questionnaires (BIRT-PQs)

Author

Pellicciari, L, Piscitelli, D, Basagni, B, De Tanti, A, Algeri, L, Caselli, S, Ciurli, M, Conforti, J, Estraneo, A, Moretta, P, Gambini, M, Inzaghi, M, Lamberti, G, Mancuso, M, Rinaldesi, M, Sozzi, M, Abbruzzese, L, Zettin, M, La Porta, F, Ciurli, MP, Gambini, MG, Inzaghi, MG, Rinaldesi, ML, Pellicciari, L, Piscitelli, D, Basagni, B, De Tanti, A, Algeri, L, Caselli, S, Ciurli, M, Conforti, J, Estraneo, A, Moretta, P, Gambini, M, Inzaghi, M, Lamberti, G, Mancuso, M, Rinaldesi, M, Sozzi, M, Abbruzzese, L, Zettin, M, La Porta, F, Ciurli, MP, Gambini, MG, Inzaghi, MG, and Rinaldesi, ML

Abstract

Background: Previous analyses demonstrated a lack of unidimensionality, item redundancy, and substantial administrative burden for the Brain Injury Rehabilitation Trust Personality Questionnaires (BIRT-PQs). Objective: To use Rasch Analysis to calibrate five short-forms of the BIRT-PQs, satisfying the Rasch model requirements. Methods: BIRT-PQs data from 154 patients with severe Acquired Brain Injury (s-ABI) and their caregivers (total sample = 308) underwent Rasch analysis to examine their internal construct validity and reliability according to the Rasch model. Results: The base Rasch analyses did not show sufficient internal construct validity according to the Rasch model for all five BIRT-PQs. After rescoring 18 items, and deleting 75 of 150 items, adequate internal construct validity was achieved for all five BIRT-PQs short forms (model chi-square p-values ranging from 0.0053 to 0.6675), with reliability values compatible with individual measurements. Conclusions: After extensive modifications, including a 48% reduction of the item load, we obtained five short forms of the BIRT-PQs satisfying the strict measurement requirements of the Rasch model. The ordinal-to-interval measurement conversion tables allow measuring on the same metric the perception of the neurobehavioral disability for both patients with s-ABI and their caregivers.

Published
2020

83. The unidimensionality of the five Brain Injury Rehabilitation Trust Personality Questionnaires (BIRT-PQs) may be improved: preliminary evidence from classical psychometrics

Author

Basagni, B, Piscitelli, D, De Tanti, A, Pellicciari, L, Algeri, L, Caselli, S, Formisano, R, Conforti, J, Estraneo, A, Moretta, P, Gambini, M, Inzaghi, M, Lamberti, G, Mancuso, M, Quinquinio, C, Sozzi, M, Abbruzzese, L, Zettin, M, La Porta, F, Basagni, Benedetta, Piscitelli, Daniele, De Tanti, Antonio, Pellicciari, Leonardo, Algeri, Lorella, Caselli, Serena, Formisano, Rita, Conforti, Jessica, Estraneo, Anna, Moretta, Pasquale, Gambini, Maria Grazia, Inzaghi, Maria Grazia, Lamberti, Gianfranco, Mancuso, Mauro, Quinquinio, Cristina, Sozzi, Matteo, Abbruzzese, Laura, Zettin, Marina, La Porta, Fabio, Basagni, B, Piscitelli, D, De Tanti, A, Pellicciari, L, Algeri, L, Caselli, S, Formisano, R, Conforti, J, Estraneo, A, Moretta, P, Gambini, M, Inzaghi, M, Lamberti, G, Mancuso, M, Quinquinio, C, Sozzi, M, Abbruzzese, L, Zettin, M, La Porta, F, Basagni, Benedetta, Piscitelli, Daniele, De Tanti, Antonio, Pellicciari, Leonardo, Algeri, Lorella, Caselli, Serena, Formisano, Rita, Conforti, Jessica, Estraneo, Anna, Moretta, Pasquale, Gambini, Maria Grazia, Inzaghi, Maria Grazia, Lamberti, Gianfranco, Mancuso, Mauro, Quinquinio, Cristina, Sozzi, Matteo, Abbruzzese, Laura, Zettin, Marina, and La Porta, Fabio

Abstract

Objective: To assess the internal construct validity (ICV) of the five Brain Injury Rehabilitation Trust Personality Questionnaires (BIRT-PQ) with Classical Test Theory methods. Methods: Multicenter cross-sectional study involving 11 Italian rehabilitation centers. BIRT-PQs were administered to patients with severe Acquired Brain Injury and their respective caregivers. ICV was assessed by the mean of an internal consistency analysis (ICA) and a Confirmatory Factor Analysis (CFA). Results: Data from 154 patients and their respective caregivers were pooled, giving a total sample of 308 subjects. Despite good overall values (alphas ranging from 0.811 to 0.937), the ICA revealed that several items within each scale did not contribute as expected to the total score. This result was confirmed by the CFA, which showed the misfit of the data to a unidimensional model (RMSEA ranging from 0.077 to 0.097). However, after accounting for local dependency found within the data, fitness to a unidimensional model improved significantly (RMSEA ranging from 0.050 to 0.062). Conclusion: Despite some limitations, our analyses demonstrated the lack of ICV for the BIRT-PQ total scores. It is envisaged that a more comprehensive ICV analysis will be performed with Rasch analysis, aiming to improve both the measurement properties and the administrative burden of each BIRT-PQ.

Published
2020

85. Consensus statement from the international consensus meeting on post-traumatic cranioplasty

Author

Iaccarino, C., primary, Kolias, A., additional, Adelson, P. D., additional, Rubiano, A. M., additional, Viaroli, E., additional, Buki, A., additional, Cinalli, G., additional, Fountas, K., additional, Khan, T., additional, Signoretti, S., additional, Waran, V., additional, Adeleye, A. O., additional, Amorim, R., additional, Bertuccio, A., additional, Cama, A., additional, Chesnut, R. M., additional, De Bonis, P., additional, Estraneo, A., additional, Figaji, A., additional, Florian, S. I., additional, Formisano, R., additional, Frassanito, P., additional, Gatos, C., additional, Germanò, A., additional, Giussani, C., additional, Hossain, I., additional, Kasprzak, P., additional, La Porta, F., additional, Lindner, D., additional, Maas, A. I. R., additional, Paiva, W., additional, Palma, P., additional, Park, K. B., additional, Peretta, P., additional, Pompucci, A., additional, Posti, J., additional, Sengupta, S. K., additional, Sinha, A., additional, Sinha, V., additional, Stefini, R., additional, Talamonti, G., additional, Tasiou, A., additional, Zona, G., additional, Zucchelli, M., additional, Hutchinson, P. J., additional, and Servadei, F., additional

Published
2020
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