Results 101 to 110 of about 398,516 (264)

Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adrenoleukodystrophy is a rare inherited peroxisomal disease caused by pathogenic variants in the ABCD1 gene located on the X chromosome. Although the most severe central nervous system and adrenal complications typically affect only men with adrenoleukodystrophy, the majority of women develop myeloneuropathy symptoms in adulthood.
Chenwei Yan, Elizabeth I. Pierpont, Amena S. Fine, Reena V. Kartha   +3 more
wiley   +1 more source

Ravulizumab for adults with generalized myasthenia gravis: a plain language summary of three studies

Journal of Comparative Effectiveness Research
What is this summary about? Generalized myasthenia gravis (often shortened to gMG) is a rare health condition that causes muscular weakness. This summary gives an overview of three published articles that report the results of research studies of a ...
Florencia Aguirre, Renata Andrade
doaj   +1 more source

Optimizing care and quality indicators in the management of patients with acute ischaemic heart disease and atherothrombotic stroke: measuring to improve

Drugs in Context
Background: Acute ischaemic heart disease (AIHD) and atherothrombotic stroke are amongst the leading causes of mortality and disability worldwide, sharing pathogenic mechanisms.
José R González-Juanatey, Rafael Vázquez-García, Raquel Campuzano, José Luis Zamorano   +3 more
doaj   +1 more source

Collaborative Learning Through Formative Peer Review With Technology

, 2014
This paper describes a collaboration between a mathematician and a compositionist who developed a sequence of collaborative writing assignments for calculus. This sequence of developmentally-appropriate assignments presents peer review as a collaborative
Eaton, Carrie Diaz, Wade, Stephanie
core   +1 more source

Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician‐reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short‐term fluctuations, limiting its sensitivity in trials.
Marcus Grobe‐Einsler, Vivian Maas, Arian Taheri Amin, Jennifer Faber, Tamara Schaprian, Katharina Hill, Matthis Synofzik, Lisa H. Graf, Heike Jacobi, Manuela Lima, Ana F. Ferreira, Bart P. van de Warrenburg, Ilse H. J. Willemse, Dagmar Timmann, Andreas Thieme, Paola Giunti, Hector Garcia‐Moreno, Magda M. Santana, Jeannette Hübener‐Schmid, Elin H. Davies, Thomas Klockgether   +20 more
wiley   +1 more source

Adjuvant abemaciclib in early-stage breast cancer: hypothesis-generating safety observations from a real-world cohort study

Drugs in Context
Background: Invasive disease-free survival in adjuvant treatment of HR+/HER2– early-stage breast cancer is improved by the use of CDK4/6 inhibitors. However, to date, minimal data are available on their safety and effectiveness in older patients (≥70 ...
Federico Sottotetti, Simone Figini, Giulia Gambini, Gianpiero Rizzo, Giulia Chessa, Erica Quaquarini, Raffaella Palumbo, Lorenzo Perrone, Barbara Tagliaferri, Alessandra Ferrari, Catherine Klersy, Paolo Pedrazzoli, Laura Deborah Locati, Angioletta Lasagna   +13 more
doaj   +1 more source

Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende, Emilien Petit, Young Woo Park, Sophie Tezenas du Montcel, James M. Joers, Jonathan M. DuBois, H. Moore Arnold, Michal Povazan, Ipek Özdemir, Guita Banan, Romain Valabregue, Philipp Ehses, Jennifer Faber, Chiadi U. Onyike, Peter B. Barker, Jeremy D. Schmahmann, Eva‐Maria Ratai, Sub H. Subramony, Thomas H. Mareci, Khalaf O. Bushara, Henry Paulson, Thomas Klockgether, Alexandra Durr, Tetsuo Ashizawa, Christophe Lenglet, Gülin Öz, READISCA Investigators   +26 more
wiley   +1 more source

Understanding the Burden of Respiratory Syncytial Virus in Older Adults in Latin America: An Expert Perspective on Knowledge Gaps

Pulmonary Therapy
Respiratory syncytial virus (RSV) is a significant global health concern and major cause of hospitalization, particularly among infants and older adults.
Ricardo Amorim Correa, Francisco Arancibia, Renato De Ávila Kfouri, Alberto Chebabo, Gabriel García, Luis Miguel Gutiérrez Robledo, Gustavo Lopardo, Julio Nemerovsky, Carlos M. Pérez, Adrian Rendon, Guillermo M. Ruiz-Palacios, Bhumika Aggarwal, Arnas Berzanskis, Otavio Cintra   +13 more
doaj   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

FDG‐PET Associations With Disease Severity and Outcomes in NMDA‐Receptor IgG Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Patients with N‐methyl‐D‐aspartate (NMDA) receptor‐immunoglobulin G (IgG) autoimmune encephalitis (NMDAR‐IgG AE) demonstrate occipital lobe hypometabolism on baseline brain fluorodeoxyglucose‐positron emission tomography (bFDG‐PET).
Jonathan K. Lee, Jeffrey Lambe, Scott Johnson, Akua Abrah, Jennifer Bullen, Jeffrey A. Cohen, Tatchaporn Ongphichetmetha, Amy Kunchok   +7 more
wiley   +1 more source