Early onset developmental and epileptic encephalopathy and Rett-like phenotype in a 15-year-old girl affected by Cornelia de Lange syndrome type 2 due to a SMC1A gene mutation

Autor: L. Parmeggiani, F. Stanzial, E. Menna, E. Boni, F. Manzoni, F. Benedicenti, S. Pellegrin

Publikováno v: Epilepsy & Behavior Reports, Vol 24, Iss , Pp 100634- (2023)

Developmental and epileptic encephalopathies (DEE) are conditions in which a mutated gene may cause abnormal functioning of the central nervous system, resulting in both encephalopathy and epileptogenesis. We present a case of a girl with a DEE chara

Externí odkaz: https://doaj.org/article/d48d14f969f14c869dbad19bffa05af2

Pharmacological treatment of asthma in a cohort of adults during a 20-year period: results from the European Community Respiratory Health Survey I, II and III

Autor: Christer Janson, Simone Accordini, Lucia Cazzoletti, Isa Cerveri, Sebastien Chanoine, Angelo Corsico, Diogenes Seraphim Ferreira, Judith Garcia-Aymerich, David Gislason, Rune Nielsen, Ane Johannessen, Rain Jogi, Andrei Malinovschi, Jesús Martinez-Moratalla Rovira, Alessandro Marcon, Isabelle Pin, Jennifer Quint, Valerie Siroux, Enrique Almar, Valeria Bellisario, Karl A. Franklin, José A. Gullón, Mathias Holm, Joachim Heinrich, Dennis Nowak, José Luis Sánchez-Ramos, Joost J. Weyler, Deborah Jarvis, The members of the ECRHS I scientific team., P. Burney, S. Chinn, C. Luczynska, D. Jarvis, E. Lai, P. Vermeire, H. Kesteloot, J. Bousquet, D. Nowak, J. Prichard, R. de Marco, B. Rijcken, J.M. Anto, J. Sunyer, J. Alves, G. Boman, N. Nielsen, P. Paoletti, M. Abramson, J. Kutin, F. van Bastelaer, R. Jõgi, A. Taytard, I. Pin, C. Pison, F. Neukirch, R. Liard, J. Knani, H-E. Wichmann, J. Heinrich, H. Magnussen, T. Gislason, D. Gislason, A. Marinoni, I. Cerveri, M. Bugiani, C. Bucca, C. Romano, L. Cascio, C. Campello, J. Droste, M. Kerkhof, A. Gulsvik, E. Omenaas, J. Martinez-Moratalla, E. Almar, A. Mateos, M. Arévalo, A. Sánchez, M. Vizcaya, X. Aguilar, A. Teixidó, J.M. Antó, M. Kogevinas, F. Burgos, J. Castellsagué, J. Roca, JB. Soriano, A. Tobías, N. Muiñozguren, J. Ramos González, A. Capelastegui, J. Maldonado Pérez, A. Pereira, J. Sánchez, J. Quiros, I. Huerta, F. Payo, N. Lindholm, P. Plaschke, C. Janson, E. Björnsson, L. Rosenhall, E. Norrman, B. Lundbäck, U. Ackermann-Liebrich, N. Küenzli, A. Perruchoud, M. Burr, J. Layzell, R. Hall, B. Harrison, The members of the ECRHS II scientific team., J. Knox, M. Wjst, N. Kuenzli, E.H. Walters, J. Raven, J. Weyler, M. van Sprundel, V. Nelen, A. Soon, C. Raherison, J. Ferran-Quentin, B. Leynaert, M. Zureik, P.J. Bousquet, C. Frye, I. Meyer, E. Bjornsson, K.B. Jörundsdóttir, S. Villani, M. Ponzio, F. Frigerio, M. Comelli, M. Grassi, A. Corsico, R. Bono, P. Piccioni, E. Caria, A. Carosso, E. Migliore, G. Castiglioni, G. Verlato, E. Zanolin, S. Accordini, A. Poli, V. Lo Cascio, M. Ferrari, I. Cazzoletti, C. Svanes, B. Laerum, J. Martinez-Moratalla Rovira, C. Boix, G. González, J.M. Ignacio García, J. Solera, J. Damián, J.P. Zock, X. Basagaña, A. Jaen, C. Acosta, N. Muñozguren, J. Ramos, I. Urrutia, U. Aguirre, J. Maldonado, J.L. Sanchez, A. de la Vega, L. Palenciano, J. Azofra, A. Cañada, K. Toren, L. Lillienberg, A.C. Olin, B. Balder, A. Pfeifer-Nilsson, R. Sundberg, D. Norback, G. Wieslander, M. Gunnbjornsdottir, M. Soderberg, K.A. Franklin, B. Lundback, B. Forsberg, L. Nystrom, B. Dibbert, M. Hazenkamp, M. Brutsche, D. Seaton, The members of the ECRHS III scientific team., M. Tumilty, J. Potts, T. Gislasson, T. Rochat, B. Leyneart, G. Benke, S. Dharmage, B. Thompson, S. Kaushik, M. Matheson, H. Bentouhami, H. Orru, P.O. Girodet, V. Siroux, J. Ferran, J.L. Cracowski, P. Demoly, A. Bourdin, I. Vachier, D. Soussan, D. Courbon, C. Neukirch, L. Alavoine, X. Duval, I. Poirier, E. Becker, G. Woelke, O. Manuwald, A-M. Kirsten, B. Benediktsdottir, E.S. Arnardottir, M. Clausen, G. Gudmundsson, L. Gudmundsdottir, H. Palsdottir, K. Olafsdottir, S. Sigmundsdottir, K. Bara-Jörundsdottir, A. Grosso, F. Albicini, E. Gini, E.M. Di Vincenzo, V. Ronzoni, F. Campanella, M. Gnesi, F. Manzoni, L. Rossi, O. Ferraro, R. Tassinari, V. Bellisario, G. Trucco, L. Calciano, L. Cazzoletti, A.M. Fratta Pasini, F. Locatelli, P. Marchetti, A. Marcon, E. Montoli, G. Nguyen, M. Olivieri, C. Papadopoulou, C. Posenato, G. Pesce, P. Vallerio, H.M. Boezen, A. Johannessen, T. Skorge, F. Gomez Real, S. García, A. Núñez, P. López, R. Sánchez, E. Mancebo, J-M. Antó, J. Garcia-Aymerich, A.E. Carsin, C. Sanjuas, S. Guerra, B. Jacquemin, P. Davdand Galdakao, S. Pascual, J. Antonio Maldonado, J.L. Sánchez, L. Palacios, N. Sánchez, M. Fernández, B. Robles, K. Torén, M. Holm, J-L. Kim, A-C. Olin, A. Dahlman-Höglund, L. Braback, L. Modig, B. Järvholm, K.A. Bertilsson, H. Franklin, C. Wahlgreen, B. Andersson, U. Spetz Nystrom, G.M. Bodinaa Lund, K. Nisser, N.M. Probst-Hensch, N. Künzli, D. Stolz, C. Schindler, J.M. Gaspoz, E. Zemp Stutz, M. Adam, C. Autenrieth, I. Curjuric, J. Dratva, A. Di Pasquale, R. Ducret-Stich, E. Fischer, L. Grize, A. Hensel, D. Keidel, A. Kumar, M. Imboden, N. Maire, A. Mehta, H. Phuleria, M. Ragettli, M. Ritter, E. Schaffner, G.A. Thun, A. Ineichen, T. Schikowski, M. Tarantino, M. Tsai, S. Kapur, R. Newson, N. Innes, A. Wilson

Publikováno v: ERJ Open Research, Vol 5, Iss 1 (2019)

Asthma often remains uncontrolled, despite the fact that the pharmacological treatment has undergone large changes. We studied changes in the treatment of asthma over a 20-year period and identified factors associated with the regular use of inhaled

Externí odkaz: https://doaj.org/article/11e62210c2764425b4c0c6e329ccabe9

Wine putrescine abatement by bentonites: From ideal case to practice

Autor: U. Colombi, L. Sanarica, E. Pargoletti, C. Pisarra, F. Manzoni, G. Cappelletti

Publikováno v: Food Chemistry. 417:135876

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3c95cd698df7f867575edc48512c253c
https://doi.org/10.1016/j.foodchem.2023.135876

P278 WHEN HARRY MET SALLY. DESCRIPTION OF ELDERLY PATIENTS WITH PULMONARY EMBOLISM ARRIVING IN THE EMERGENCY ROOM. THE REAL–LIFE EXPERIENCE OF 5 YEARS IN THE EMERGENCY ROOM

Autor: G Savioli, I Ceresa, L Preda, F Manzoni, P Maggioni, F Fumoso, F Lapia, M Brattoli, M Bressan

Publikováno v: European Heart Journal Supplements. 24

Premises Pulmonary embolism represents one of the major causes of mortality linked to cardiovascular events. The range of symptoms is extremely wide and its recognition difficult. The patients who therefore come to the emergency room are a diverse po

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5ed5b91db7bb307279fb751718e1e1ac
https://doi.org/10.1093/eurheartj/suac012.269

P271 DOES SENILITY AFFECT THE MANIFESTATION AND MANAGEMENT OF PULMONARY EMBOLISM? EXPERIENCE OF AN ED

Autor: G Savioli, F Lapia, F Fumoso, M Brattoli, A Mugellini, A Martignoni, I Ceresa, A Muzzi, V Novelli, L Preda, M Lava, P Maggioni, F Manzoni, M Bressan

Publikováno v: European Heart Journal Supplements. 24

Premises Acute pulmonary embolism is a pathology characterized by high mortality. The elderly population is destined to increase, becoming, according to some authors, 30% of the population in the developed countries. Purpose of the Study see if and h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b791e0437610a39cbbb087b5308f276f
https://doi.org/10.1093/eurheartj/suac012.262