Results 141 to 150 of about 2,160,312 (268)

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24‐Month Follow‐Up From the Italian Registry

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane, Giorgia Coratti, Chiara Cutrì, Antonio Varone, Riccardo Masson, Adele D'Amico, Valeria Sansone, Sonia Messina, Federica Ricci, Chiara Ticci, Claudio Bruno, Caterina Agosto, Francesca Benedetti, Antonella Pini, Sabrina Siliquini, Massimiliano Filosto, Alberto Zambon, Ilaria Bitetti, Maria Rosaria Manna, Claudia Dosi, Riccardo Zanin, Stefano Parravicini, Roberto De Sanctis, Giulia Stanca, Michela Catteruccia, Michele Tosi, Irene Mizzoni, Emilio Albamonte, Valentina Franchino, Maria Sframeli, Ilaria Cavallina, Elena Procopio, Michele Sacchini, Simone Morando, Noemi Brolatti, Federica Trucco, Gaia Scarpini, Elena Briganti, Beatrice Berti, Concetta Palermo, Daniela Leone, Stefano C. Previtali, Eugenio Mercuri, the ITASMAC working group   +43 more
wiley   +1 more source

Management of long COVID-19 in children and adolescents: from diagnosis to therapeutically approaches. [PDF]

Ann Med
Caliman-Sturdza OA, Gheorghita R, Lobiuc A, Filip R, Soldanescu I, Mangul S, Dimian M.   +6 more
europepmc   +1 more source

Children's Feet [PDF]

Proceedings of the Royal Society of Medicine, 1977
openaire   +2 more sources

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Effectiveness and Safety of Baricitinib for Juvenile Idiopathic Arthritis–Associated Uveitis or Chronic Anterior Antinuclear Antibody–Positive Uveitis

Arthritis Care &Research, EarlyView.
Objective To evaluate the efficacy and safety of baricitinib in pediatric patients with active juvenile idiopathic arthritis–associated uveitis (JIA‐U) or chronic anterior antinuclear antibody–positive uveitis, who had an inadequate response to methotrexate (MTX) or biologic disease‐modifying antirheumatic drugs (bDMARDs).
Athimalaipet V. Ramanan, Catherine M. Guly, Gabriele Simonini, Stuart Y. Keller, Priyanka Sen, Thorsten Holzkaemper, Joana Araújo, Pierre Quartier   +7 more
wiley   +1 more source

P080: Comprehensive overview and analysis of a longstanding pediatric cancer genetics program

Genetics in Medicine Open
Bailey Gallinger, Yoshiko Nakano, Kimberly Caswell, Harriet Drucker, Alexandria Mansfield, Jonathan Wasserman, Rosanna Weksberg, Rosemarie Venier, Yiming Wang, David Malkin, Anita Villani   +10 more
doaj   +1 more source

Drawing Wellbeing: findings from an art-based exploration with Aboriginal and Torres Strait Islander children. [PDF]

Int J Qual Stud Health Well-being
Anderson K, Gall A, Cole TJ, Carson T, Howard K, Garvey D, Dickson M, Howell M, Theobald M, Black O, Wilkey J, Murrup-Stewart C, Garvey G.   +12 more
europepmc   +1 more source

Temporal Trends in and Associations With Nonsteroidal Anti‐inflammatory Drug Prescription in Adult and Pediatric Patients With Inflammatory Bowel Disease

Arthritis Care &Research, EarlyView.
Objective Recent inflammatory bowel disease (IBD) treatment guidelines have recommended against nonsteroidal anti‐inflammatory drug (NSAID) use despite prevalent musculoskeletal symptoms and opioid overuse in this population. Given the discordance between changing national guidelines and potential clinical utility, we sought to assess national temporal
Adam S. Mayer, Rui Xiao, Andrew Grossman, Meenakshi Bewtra, Michael D. George, Pamela F. Weiss   +5 more
wiley   +1 more source

Diffusion‐Weighted Imaging for the Evaluation of the Sacroiliac Joint in Pediatric Patients

Arthritis Care &Research, EarlyView.
Objective Maturational signal in the sacroiliac joint (SIJ) of skeletally immature youth is often misinterpreted as inflammation. Diagnostic tools that improve specificity are greatly needed. Apparent diffusion coefficient (ADC) values from diffusion‐weighted imaging (DWI), when used with standard imaging, may enhance diagnostic accuracy.
Michael L. Francavilla, Timothy G. Brandon, Dmitry Khrichenko, Rui Xiao, Nancy A. Chauvin, Asef Khwaja, Pamela F. Weiss   +6 more
wiley   +1 more source

Clinical outcomes after nondiagnostic prenatal exome sequencing: Need for balancing reassurance and residual risks in genetic counseling. [PDF]

J Genet Couns
Albert S, Swenerton A, Niles KM, Langlois S, Zambonin JL.   +4 more
europepmc   +1 more source