Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Pablo Rosselli"'
Autor:
Juan Llerena, Jr, Pablo Rosselli, Amanda Aragão, Cristina Valenzuela, Debora Bertola, Yaneth Mendez, Mariana del Pino, Nicolette Calvacanti, Paula Thomazinho, Jeanne M. Pimenta, Shelda Cohen, Tom Butt, José C. Thomaz, Jr, Renée Shediac, Richard Rowell, Tatiana S.P.C. Magalhães, Chong Kim, Virginia Fano
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100843- (2024)
Purpose: The multisystem clinical manifestations and complications of achondroplasia, the most common form of disproportionate short stature, can cause functional impairment and psychosocial burden. The Lifetime Impact Study for Achondroplasia (LISA)
Externí odkaz:
https://doaj.org/article/eeb761d8dbb64f3f8ada3e518aeb0303
Autor:
Juan Llerena, Chong Ae Kim, Virginia Fano, Pablo Rosselli, Paulo Ferrez Collett-Solberg, Paula Frassinetti Vasconcelos de Medeiros, Mariana del Pino, Débora Bertola, Charles Marques Lourenço, Denise Pontes Cavalcanti, Têmis Maria Félix, Antonio Rosa-Bellas, Norma Teresa Rossi, Fanny Cortes, Flávia Abreu, Nicolette Cavalcanti, Maria Cecilia Hervias Ruz, Wagner Baratela
Publikováno v:
BMC Pediatrics, Vol 22, Iss 1, Pp 1-13 (2022)
Abstract Background Achondroplasia is the most common bone dysplasia associated with disproportionate short stature, and other comorbidities, such as foramen magnum stenosis, thoracolumbar kyphosis, lumbar hyperlordosis, genu varum and spinal compres
Externí odkaz:
https://doaj.org/article/6cb774ce002b42298b2e3017d9bdf78b
Autor:
Juan Llerena, Jr, Virginia Fano, Pablo Rosselli, Mariana del Pino, Cristina Valenzuela, Janeth Méndez, Nicolette Cavalcanti, Paula Thomazinho, Amanda Aragão, José Thomaz, Tom Butt, Richard Rowell, Jeanne Pimenta, Shelda Cohen, Renée Shediac, Tatiana Magalhães, Debora Bertola, Chong Kim
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100261- (2023)
Externí odkaz:
https://doaj.org/article/b35af266ef1c40f58dfe076e08253473
Autor:
Virginia Fano, Chong A. Kim, Pablo Rosselli, Regina El Dib, Renée Shediac, Tatiana Magalhães, Debora Mesojedovas, Juan Llerena
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-28 (2022)
Abstract Background Achondroplasia (ACH), the most common form of disproportionate short stature, is caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene. Recent advances in drug therapy for ACH have highlighted the importan
Externí odkaz:
https://doaj.org/article/fb7c401841ae411aa2174a10217d2396
Autor:
Pablo Rosselli, Harold Arévalo
Publikováno v:
Revista de Nutrición Clínica y Metabolismo, Vol 2, Iss 2 (2019)
Una actividad física adecuada y una nutrición balanceada son fundamentales para el buen desarrollo físico y mental de niños y adolescentes. Infortunadamente, el estilo de vida actual induce al sedentarismo y a los malos hábitos alimentarios. Est
Externí odkaz:
https://doaj.org/article/ec9e39ee531342958fcf8ead78c8bdf3
Publikováno v:
Medicina, Vol 40, Iss 3, Pp 370-371 (2018)
Fragmento Prólogo Desde el punto de vista clínico y de salud pública es un verdadero privilegio contar con un texto de consulta, de tan alta calidad, que cubre una amplia variedad de temas de interés alrededor del ejercicio y la actividad f
Externí odkaz:
https://doaj.org/article/0971b6ee088b4793bfccfcc88e30b3a8
Autor:
Gustavo Carvajal-Barrios, Juan Carlos Rodríguez-Alvira, Pablo Rosselli C, Nicolás Ramos, Fernado Rojas, Diego Rojas
Publikováno v:
Pediatría. 55:135-141
Objetivos: Diferenciar las presentaciones de displasia de la cadera en desarrollo (DCD); proponer un tamizado universal para el diagnóstico y tratamiento oportuno que disminuyan secuelas. Métodos: Se trata de una revisión narrativa con herramienta
Publikováno v:
Revista Mexicana de Ortopedia Pediátrica. 24:50-53
Autor:
Virginia Fano, Martyn T. Cobourne, Patricia Carl-Innig, Michael B. Bober, Melita Irving, Fabio Mazzoleni, Jeffrey W. Campbell, Brigitte Fauroux, Dominic Thompson, Judith P Rossiter, Jenna W. Briddell, Yosha Prasad, Mary C. Theroux, Geert Mortier, Antonio Leiva-Gea, Amaka C. Offiah, Klaus Mohnike, Penny Ireland, James A. Betts, Juan Llerena, Steven Powell, Heather Elphick, Pablo Rosselli, Wagner A.R. Baratela, Therese Hannon, Kenneth W. Martin, Marco Sessa, Natsuo Yasui, Michael Wright, Moira Cheung, Matthew Thomas, Inês Alves, Jonathan Gibbins, Cathleen L. Raggio, Muriel Deladure-Molla, Angelo Selicorni, Lars Hagenäs, Sharon McDonnell, William G. Mackenzie, Morrys Kaisermann, Maria Costanza Meazzini, Svein O. Fredwall, Laura Trespedi, Ravi Savarirayan, Philippe M. Campeau, Mari L. Groves, Valérie Cormier-Daire, Keiichi Ozono, Julie Hoover-Fong, David E. Tunkel, John A. Phillips, Josef Milerad, Silvio Boero, C Wallis, Mariana del Pino
Publikováno v:
Nature reviews : endocrinology
Savarirayan, R, Fredwall, S, Ireland, P, Irving, M D, Thompson, D, Alves, I, Baratela, W A R & Betts, J 2022, ' International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia ', Nature Reviews Endocrinology, vol. 18, no. 3, pp. 173-189 . https://doi.org/10.1038/s41574-021-00595-x
Savarirayan, R, Fredwall, S, Ireland, P, Irving, M D, Thompson, D, Alves, I, Baratela, W A R & Betts, J 2022, ' International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia ', Nature Reviews Endocrinology, vol. 18, no. 3, pp. 173-189 . https://doi.org/10.1038/s41574-021-00595-x
Achondroplasia, the most common skeletal dysplasia, is characterized by a variety of medical, functional and psychosocial challenges across the lifespan. The condition is caused by a common, recurring, gain-of-function mutation in FGFR3, the gene tha