Zobrazeno 1 - 10
of 250
pro vyhledávání: '"Domenica, Taruscio"'
Autor:
Elena Bozzola, Rino Agostiniani, Laura Pacifici Noja, Jibin Park, Paolo Lauriola, Tiziana Nicoletti, Domenica Taruscio, Giovanni Taruscio, Alberto Mantovani
Publikováno v:
Italian Journal of Pediatrics, Vol 50, Iss 1, Pp 1-7 (2024)
Abstract Background Pollution of the indoor environment represents a concern for human health, mainly in case of prolonged exposure such as in the case of women, children, the elderly, and the chronically ill, who spend most of their time in closed e
Externí odkaz:
https://doaj.org/article/de33a79caae245faa10c178fda6488e8
Autor:
Natalia Cirilli, Giovanna Floridia, Annalisa Amato, Rita Padoan, Federica Censi, Gianluca Ferrari, Valeria Raia, Giuseppe Castaldo, Ettore Capoluongo, Domenica Taruscio, Marco Salvatore
Publikováno v:
Practical Laboratory Medicine, Vol 40, Iss , Pp e00403- (2024)
Background: The advent of CFTR modulators highlighted that the sweat test (ST) for CF can be used also as an outcome measure for the basic defect of CFTR. Despite the technological advances, ST still remains operator-dependent and its execution shoul
Externí odkaz:
https://doaj.org/article/d9d14bf9cbc149d883b03e6effb564da
Autor:
Domenica Taruscio, Alberto Mantovani
Publikováno v:
Annali dell'Istituto Superiore di Sanità, Vol 59, Iss 4, Pp 295-303 (2023)
Background. Holoprosencephaly is a rare (1/16,000 livebirths) and severe brain malformation occurring during early embryogenesis. The malformation originates from absent or incomplete forebrain division and is associated with altered embryonic patter
Externí odkaz:
https://doaj.org/article/7fa1df718df640b0ac7d9a3be7ec1f2e
Autor:
Rima Nabbout, Galliano Zanello, Dixie Baker, Lora Black, Isabella Brambilla, Orion J. Buske, Laurie S. Conklin, Elin Haf Davies, Daria Julkowska, Yeonju Kim, Thomas Klopstock, Harumasa Nakamura, Kim G. Nielsen, Anne R. Pariser, Jose Carlos Pastor, Maurizio Scarpa, Maureen Smith, Domenica Taruscio, Stephen Groft
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Background Many patients with rare diseases are still lacking a timely diagnosis and approved therapies for their condition despite the tremendous efforts of the research community, biopharmaceutical, medical device industries, and patient s
Externí odkaz:
https://doaj.org/article/c9ca331354bc45bb934c597b9e06fa26
Autor:
Marco Salvatore, Paola Torreri, Graziano Grugni, Adele Rocchetti, Mohamad Maghnie, Giuseppa Patti, Antonino Crinò, Maurizio Elia, Donatella Greco, Corrado Romano, Adriana Franzese, Enza Mozzillo, Annamaria Colao, Gabriella Pugliese, Uberto Pagotto, Valentina Lo Preiato, Emanuela Scarano, Concetta Schiavariello, Gianluca Tornese, Danilo Fintini, Sarah Bocchini, Sara Osimani, Luisa De Sanctis, Michele Sacco, Irene Rutigliano, Maurizio Delvecchio, Maria Felicia Faienza, Malgorzata Wasniewska, Domenico Corica, Stefano Stagi, Laura Guazzarotti, Pietro Maffei, Francesca Dassie, Domenica Taruscio
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
Abstract Background Prader–Willi syndrome (PWS) is a rare and complex genetic disease, with numerous implications on metabolic, endocrine, neuropsychomotor systems, and with behavioural and intellectual disorders. Rare disease patient registries ar
Externí odkaz:
https://doaj.org/article/e788ecaab80a41e2a602680820cf9f57
Autor:
Savino Sciascia, Dario Roccatello, Marco Salvatore, Claudio Carta, Laura L. Cellai, Gianluca Ferrari, Aimè Lumaka, Stephen Groft, Yasemin Alanay, Maleeha Azam, Gareth Baynam, Helene Cederroth, Eva Maria Cutiongco-de la Paz, Vajira Harshadeva Weerabaddana Dissanayake, Roberto Giugliani, Claudia Gonzaga-Jauregui, Dineshani Hettiarachchi, Oleg Kvlividze, Guida Landoure, Prince Makay, Béla Melegh, Ugur Ozbek, Ratna Dua Puri, Vanessa I. Romero, Vinod Scaria, Saumya S. Jamuar, Vorasuk Shotelersuk, William A. Gahl, Samuel A. Wiafe, Olaf Bodamer, Manuel Posada, Domenica Taruscio
Publikováno v:
Frontiers in Public Health, Vol 11 (2023)
BackgroundPatients, families, the healthcare system, and society as a whole are all significantly impacted by rare diseases (RDs). According to various classifications, there are currently up to 9,000 different rare diseases that have been recognized
Externí odkaz:
https://doaj.org/article/da71af76c6954864ad49d713a5a8c259
Autor:
Domenica Taruscio, Marco Salvatore, Aimè Lumaka, Claudio Carta, Laura L. Cellai, Gianluca Ferrari, Savino Sciascia, Stephen Groft, Yasemin Alanay, Maleeha Azam, Gareth Baynam, Helene Cederroth, Eva Maria Cutiongco-de la Paz, Vajira Harshadeva Weerabaddana Dissanayake, Roberto Giugliani, Claudia Gonzaga-Jauregui, Dineshani Hettiarachchi, Oleg Kvlividze, Guida Landoure, Prince Makay, Béla Melegh, Ugur Ozbek, Ratna Dua Puri, Vanessa Romero, Vinod Scaria, Saumya S. Jamuar, Vorasuk Shotelersuk, Dario Roccatello, William A. Gahl, Samuel A. Wiafe, Olaf Bodamer, Manuel Posada
Publikováno v:
Frontiers in Public Health, Vol 11 (2023)
IntroductionRare diseases (RD) are a health priority worldwide, overall affecting hundreds of millions of people globally. Early and accurate diagnosis is essential to support clinical care but remains challenging in many countries, especially the lo
Externí odkaz:
https://doaj.org/article/2227df40187d4d7eabf002601c80d926
Autor:
William A. Gahl, Olaf Bodamer, Helene Cederroth, Roberto Giugliani, Eric Klee, Manuel Posada De La Paz, Olaf Horst Riess, Domenica Taruscio
Publikováno v:
Rare, Vol 1, Iss , Pp 100002- (2023)
Externí odkaz:
https://doaj.org/article/2c232af760544011873c8a17d6b8031a
Autor:
Eleonora Lacorte, Paola Piscopo, Luciano Sagliocca, Luca Vignatelli, Domenica Taruscio, Nicola Vanacore, The Ataxia Guideline Development Working Group (GDWG), I Bacigalupo, L Beccani, G Bellomo, E Bertini, S Biagiotti, R Borgatti, A Bramati, R Cammarano, A Ceccarini, C Corti, F Della Gatta, M Della Seta, S Faccioli, S Gainotti, A Gaudiano, G Gervasi, M Ginevrino, C Mariotti, F Mayer, FS Mennini, A Micalizzi, S Nuovo, D Pandarese, P Parisi, L Penna, M Petrarca, G Pioggia, U Raucci, R Romaniello, D Sacchi, V Salvaggiulo, P Sciattella, T Schirinzi, M Tofani, P Torreri, EM Valente, G Vasco, V Zaccaria, G Zanni
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
BackgroundAtaxia is a rare neurological condition causing a deficit in the coordination of motor activities, preventing the fluidity of movements. Children with ataxia may show several different ataxic signs, along with difficulties in walking autono
Externí odkaz:
https://doaj.org/article/17421235e9284f6d88958582b4e68666
Autor:
Matilde Bandeira, Federica Di Cianni, Diana Marinello, Laurent Arnaud, Sara Cannizzo, Claudio Carta, Alain Cornet, Sara M. Barril, Inita Bulina, Alessandro Ferraris, João Fonseca, Andrea Gaglioti, Marteen Limper, Valentina Lorenzoni, Judith Majnik, Marco Matucci-Cerinic, Ilaria Palla, Simona Rednic, Matthias Schneider, Vanessa Smith, Alberto Sulli, Klaus Søndergaard, Simone Ticciati, Angela Tincani, Giuseppe Turchetti, Rosaria Talarico, Maurizio Cutolo, Marta Mosca, Domenica Taruscio
Publikováno v:
Frontiers in Medicine, Vol 9 (2022)
BackgroundPatient registries play a crucial role in supporting clinical practice, healthcare planning and medical research, offering a real-world picture on rare and complex connective tissue diseases (rCTDs). ERN ReCONNET launched the first European
Externí odkaz:
https://doaj.org/article/d63d06b3a6134ffc9e48d1f06b3e4790