Meta-analyses of deflazacort versus prednisone/prednisolone in patients with nonsense mutation Duchenne muscular dystrophy

Autor: Perry B Shieh, Gary Elfring, Panayiota Trifillis, Claudio Santos, Stuart W Peltz, Julie A Parsons, Susan Apkon, Basil T Darras, Craig Campbell, Craig M McDonald, Richard J Barohn, Enrico Bertini, Kate Bushby, Brigitte Chabrol, Emma Ciafaloni, Jaume Columer, Giacomi Pietro Comi, Anne Connolly, Richard S Finkel, Kevin M Flanigan, Nathalie Goemans, Michela Guglieri, Susan T Iannaccone, Kristi J Jones, Petra Kaufmann, Janbernd Kirschner, Jean K Mah, Katherine Mathews, Eugenio Mercuri, Francesco Muntoni, Yoram Nevo, Andrés Nascimento Osorio, Yann Péréon, Rosaline Quinlivan, J. Ben Renfroe, Barry Russman, Monique Ryan, Jacinda Sampson, Ulrike Schara, Kathryn Selby, Thomas Sejersen, Douglas M Sproule, H. Lee Sweeney, Már Tulinius, Juan J Vilchez, Giuseppe Vita, Thomas Voit, Stephanie Burns-Wechsler, Brenda Wong, Ted Abresch, Erik K Henricson, Kim Coleman, Michelle Eagle, Julaine Florence, Ed Gappmaier, Craig McDonald, Hoda Z Abdel-Hamid, Clemens Bloetzer, Russell J Butterfield, Jong-Hee Chae, Jahannaz Dastgir, Isabelle Desguerre, Raul G Escobar, Erika Finanger, Peter Heydemann, Imelda Hughes, Anna Kaminska, Peter Karachunski, Martin Kudr, Timothy Lotze, Alexandra Prufer de Queiroz Campos Araujo, Maria Bernadete Dutra de Resende, Gihan Tennekoon, Haluk Topaloglu, Ricardo Erazo Torricelli, Lindsay N Alfano, Meredith K James, Linda Lowes, Anna Mayhew, Elena S Mazzone, Leslie Nelson, Kristy J Rose

Publikováno v: Paediatrics Publications

Aim: Compare efficacies of deflazacort and prednisone/prednisolone in providing clinically meaningful delays in loss of physical milestones in patients with nonsense mutation Duchenne muscular dystrophy. Materials & methods: Placebo data from Phase I

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e773db882a9b68ac18148646fe6a8d7
https://ir.lib.uwo.ca/context/paedpub/article/3206/viewcontent/843.pdf

International retrospective natural history study of

Autor: Rabah, Ben Yaou, Pomi, Yun, Ivana, Dabaj, Gina, Norato, Sandra, Donkervoort, Hui, Xiong, Andrés, Nascimento, Lorenzo, Maggi, Anna, Sarkozy, Soledad, Monges, Marta, Bertoli, Hirofumi, Komaki, Michèle, Mayer, Eugenio, Mercuri, Edmar, Zanoteli, Claudia, Castiglioni, Chiara, Marini-Bettolo, Adele, D'Amico, Nicolas, Deconinck, Isabelle, Desguerre, Ricardo, Erazo-Torricelli, Juliana, Gurgel-Giannetti, Akihiko, Ishiyama, Karin S, Kleinsteuber, Emmanuelle, Lagrue, Vincent, Laugel, Sandra, Mercier, Sonia, Messina, Luisa, Politano, Monique M, Ryan, Pascal, Sabouraud, Ulrike, Schara, Gabriele, Siciliano, Liliana, Vercelli, Thomas, Voit, Grace, Yoon, Rachel, Alvarez, Francesco, Muntoni, Tyler M, Pierson, David, Gómez-Andrés, A, Reghan Foley, Susana, Quijano-Roy, Carsten G, Bönnemann, Gisèle, Bonne

Publikováno v: Brain Communications

Muscular dystrophies due to heterozygous pathogenic variants in LMNA gene cover a broad spectrum of clinical presentations and severity with an age of onset ranging from the neonatal period to adulthood. The natural history of these conditions is not

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::72e871e4b9d150ef8d59b34bcdce8628
https://pubmed.ncbi.nlm.nih.gov/34240052

[Peripheral nervous system immunological disorder]

Autor: Ricardo, Erazo Torricelli

Publikováno v: Medicina. 78

Autoimmune diseases of the peripheral nervous system are common in pediatrics. Guillain-Barré syndrome, juvenile myasthenia gravis, and juvenile dermatomyositis are the most important. Their common pathogenesis involves the action of specific autoan

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::49c957623bd3a0a317497f1d9bae308b
https://pubmed.ncbi.nlm.nih.gov/30199371

Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

Autor: Nathalie Goemans, Perry B. Shieh, Eugenio Mercuri, M. James, Maria Bernadete Dutra de Resende, Kathryn Selby, Jean K. Mah, Brigitte Chabrol, Juan J. Vílchez, Andrés Nascimento Osorio, Yann Péréon, Linda Lowes, Gihan Tennekoon, Leslie Nelson, Jahannaz Dastgir, Janbernd Kirschner, Thomas Voit, Haluk Topaloglu, Joseph McIntosh, Marcio Souza, Francesco Muntoni, Susan D. Apkon, Richard S. Finkel, Enrico Bertini, R. Spiegel, Kristi J. Jones, Timothy Lotze, Julie A. Parsons, Peter Riebling, Kristy Rose, Giuseppe Vita, H. Kroger, Tuyen Ong, H. Lee Sweeney, Susan T. Iannaccone, Michela Guglieri, Craig Campbell, Kevin M. Flanigan, Clemens Bloetzer, Xiaohui Luo, Peter Heydemann, Michelle Eagle, Anna Kamińska, Stuart W. Peltz, Peter I. Karachunski, Martin Kudr, Giacomi Pietro Comi, Hoda Abdel-Hamid, Lausanne Canton de Vaud, Craig M. McDonald, Basil T. Darras, Yoram Nevo, Ulrike Schara, Alexandra Prufer de Queiroz Campos Araujo, Lindsay N. Alfano, Russell J. Butterfield, J. Ben Renfroe, Thomas Sejersen, Erika Finanger, Gary Elfring, Katherine D. Mathews, Jong-Hee Chae, Isabelle Desguerre, Daehak-ro Jongno-gu, Raul G Escobar, Elena S. Mazzone, Anna Mayhew, Brenda Wong, Richard J. Barohn, Monique M. Ryan, Imelda Hughes, Ricardo Erazo Torricelli, Mar Tulinius

Publikováno v: Lancet
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Paediatrics Publications

BACKGROUND: Duchenne muscular dystrophy (DMD) is a severe, progressive, and rare neuromuscular, X-linked recessive disease. Dystrophin deficiency is the underlying cause of disease; therefore, mutation-specific therapies aimed at restoring dystrophin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::595d3fa7afbaf20dfa8bca3b7d7c45ea
https://pubmed.ncbi.nlm.nih.gov/28728957

Vértigo en el niño Vertigo in children

Autor: Ricardo Erazo Torricelli

Publikováno v: Medicina (Buenos Aires), Vol 67, Iss 6, Pp 631-638 (2007)

El vértigo en el niño es una patología poco frecuente, pero además ha sido subvalorada y poco citada en la literatura hasta la década de los 80. Definido como la sensación de movimiento del propio cuerpo o del ambiente circundante, es un sínto

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doajarticles::e654136ec4ae612775c49e0d39faaec3
http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S0025-76802007000700012