Results 191 to 200 of about 1,354,273 (314)

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

Assessment of the ADLIFE intervention as a digital solution for patients with advanced chronic diseases: a quasi-experimental trial. [PDF]

NPJ Digit Med
García-Lorenzo B, Gorostiza A, González N, Larrañaga I, Moro Á, Ortega-Gil A, Zubelzu B, Vega R, de La Higuera L, Kaye R, Levy G, Vishnevetsky O, Sorknæs AD, Christensen RL, Juul NK, Randeva H, Robbins T, Yorkston M, Laleci Erturkmen GB, Yuksel M, Sarigul B, Arvanitis TN, Pournik O, Tong C, Aznar-Baranda JI, Caballero-García J, Vallejo-Setién G, Lilja M, Sherman MH, Swoboda A, Groene O, Bloemeke-Cammin J, Kalra D, Maguire R, McCann L, Miller M, López NFG, de Elguea LO, Lana MÁO, Alayo I, Aguirre U, Perea BL, Yeshayahu M, Halevy ED, Panchal S, Yılmaz G, de La Torre J, Verdoy D, de Manuel Keenoy E, Fullaondo A.   +49 more
europepmc   +1 more source

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

The first pediatric emergency and critical care fellowship in sub-Saharan Africa: investing in local leaders to build subspecialty capacity in low- and middle-income countries. [PDF]

Front Pediatr
Reel B, Kumar R, Steere M, Hartford EA, Shirk A, von Saint Andre-von Arnim A.   +5 more
europepmc   +1 more source

Multiple Sclerosis Relapse Activity After Ozanimod Discontinuation in DAYBREAK Trial Participants

Annals of Clinical and Translational Neurology, EarlyView.
Multiple Sclerosis Relapse Activity After Ozanimod Discontinuation in DAYBREAK Trial Participants. ABSTRACT Objective Return of disease activity is expected when patients discontinue disease‐modifying therapy (DMT) for multiple sclerosis (MS). Some MS DMTs are associated with higher‐than‐expected disease activity (rebound) after discontinuation.
Ralf Gold, Krzysztof W. Selmaj, Regina Berkovich, Jeffrey A. Cohen, Giancarlo Comi, Eva K. Havrdová, James K. Sheffield, Hetal Desai, Chun‐Yen Cheng, Jon V. Riolo, Andrew Thorpe, Erik DeBoer, Bruce A. C. Cree   +12 more
wiley   +1 more source

Australian Consensus Statement on the Prevention and Management of Frailty Among Community-Dwelling Older Adults: A Modified Delphi Study. [PDF]

Med J Aust
Chopra S, Tornvall I, Reid N, Whiting E, Hilmer SN, Job J, Villani A, Maiorana AJ, Morgan M, Fox S, Young A, Gibson C, Reidlinger DM, Burton E, Gordon EH, Baker J, Shafiee Hanjani L, Kouladjian O'Donnell L, Sim M, Miller M, Dampney P, Levinger P, King S, Hubbard RE, Australian Frailty Network Working Group.   +24 more
europepmc   +1 more source

CSF Monoamine Metabolites and Cognitive Trajectory in Early Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Imaging and postmortem studies indicate that abnormalities in monoaminergic neurotransmission contribute to cognitive impairment in Parkinson's disease (PD). However, it remains uncertain if cerebrospinal fluid (CSF) monoamine metabolites can serve as biomarkers of cognitive decline in early PD.
Jing‐Yu Shao, Rong Li, Yu‐Xiang Jiao, Kai Ma, Hong‐Qi Yang, Zheng‐Yu Sun, Jie‐Wen Zhang, Shuai Chen   +7 more
wiley   +1 more source

Artificial Intelligence in Healthcare Administration and Clinical Informatics: A Critical Review and Governance Roadmap. [PDF]

Healthcare (Basel)
Aldosari H.
europepmc   +1 more source

Elevated Connectivity During Language Processing Is Associated With Cognitive Performance in SeLECTS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Self‐Limited Epilepsy with Centrotemporal Spikes (SeLECTS) is associated with language impairments despite seizures originating in the motor cortex, suggesting aberrant cross‐network interactions. Here we tested whether functional connectivity in SeLECTS during language tasks predicts language performance.
Wendy Qi, Katharine Lee, Kerry C. Nix, Miguel Menchaca, Xiwei Shé, Lorelei Santa Maria, Wei Wu, Zihuai He, Fiona M. Baumer   +8 more
wiley   +1 more source

Transition to adulthood in Duchenne Muscular Dystrophy: a systematic review with narrative synthesis on health systems, policies, and the role of health care providers. [PDF]

Front Public Health
Friedrich S, Willems J, Rodger S, Petropoulos JA, Ringer D, Wang E, Frei J, Pozniak K, Swain A, Guastafierro E, Marcassoli A, Trucco G, Mazzilli A, Reeskau G, De Angelis F, Osman H, Fournier A, Gutierrez Rojas RG, Gorter JW, Moroni I, Leonardi M, Nardocci N, Kraus de Camargo O, Langer T.   +23 more
europepmc   +1 more source