A brief tablet-based intervention benefits linguistic and communicative abilities in toddlers and preschoolers

Autor: Marcela Peña, Constanza Vásquez-Venegas, Patricia Cortés, Enrica Pittaluga, Mitzy Herrera, Esteban J. Pino, Raul G. Escobar, Ghislaine Dehaene-Lambertz, Pamela Guevara

Publikováno v: npj Science of Learning, Vol 9, Iss 1, Pp 1-12 (2024)

Abstract Young children’s linguistic and communicative abilities are foundational for their academic achievement and overall well-being. We present the positive outcomes of a brief tablet-based intervention aimed at teaching toddlers and preschoole

Externí odkaz: https://doaj.org/article/ccb1f11921e74e00a0a456e21bd694c6

Clinical characteristics of children affected by autism spectrum disorder with and without generalized hypotonia

Autor: Mauricio A. López-Espejo, Alicia C. Nuñez, Odalie C. Moscoso, Raul G. Escobar

Publikováno v: European Journal of Pediatrics. 180:3243-3246

In this cross-sectional study, we aimed to evaluate the association between generalized hypotonia (GH) and demographic features and clinical characteristics in toddlers (2 to 5 years) with autism spectrum disorder (ASD). Among 93 children, 32 (34.4%)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6d9328a97cf0d01e4ecb6a3e2d23a46f
https://doi.org/10.1007/s00431-021-04038-7

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

Non-dystrophic myotonia Chilean cohort with predominance of the SCN4A Gly1306Glu variant

Autor: Carmen Paz Vargas Leal, Raul G. Escobar, María de Los Angeles Beytía Reyes, Juan Carlos Casar Leturia, Marcela Lagos Lucero, Rocío Cortés Zepeda, Damien Sternberg, María de los Angeles Avaria Benapres, Karin Kleinsteuber Saa, Daniela Avila-Smirnow, Oslando Padilla Pérez, Cecilia Mellado Sagredo

Publikováno v: Neuromuscular disorders : NMD. 30(7)

Non-dystrophic myotonias are a group of rare neuromuscular diseases linked to SCN4A or CLCN1. Among the subtypes, myotonia permanens, associated with the Gly1306Glu variant of SCN4A, is a relatively less frequent but more severe form. Most reports of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3164add477101de85983ce5e447e60e1
https://pubmed.ncbi.nlm.nih.gov/32593548

Resultados quirúrgicos de la timectomía por videotoracoscopía en el tratamiento de la Miastenia Gravis Juvenil

Autor: Irarrázaval Mj, Raul G. Escobar, Josefina Sáez, Cristina Vidal, Felipe Peralta, Mario Concha, Fernando Vuletin, Daniela Ávila, Juan Carlos Pattillo

Publikováno v: Andes Pediatrica. 92:250

La miastenia gravis juvenil (MGJ) es una enfermedad autoinmune de la unión neuromuscular que se manifiesta antes de los 19 años y se caracteriza por una debilidad fluctuante de distintos grupos musculares. El tratamiento es principalmente farmacol�

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2388c0f6a8847415af86f7327ad10e7d
https://doi.org/10.32641/andespediatr.v92i2.2955