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Glycogen synthase GYS1 overactivation contributes to glycogen insolubility and malto-oligoglucan-associated neurodegenerative disease.
EMBO J
January 2025
Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA.
Polyglucosans are glycogen molecules with overlong chains, which are hyperphosphorylated in the neurodegenerative Lafora disease (LD). Brain polyglucosan bodies (PBs) cause fatal neurodegenerative diseases including Lafora disease and adult polyglucosan body disease (ABPD), for which treatments, biomarkers, and good understanding of their pathogenesis are currently missing. Mutations in the genes for the phosphatase laforin or the E3 ubiquitin ligase malin can cause LD.
View Article and Find Full Text PDFPoorer Treatment Response in Confluent and Reticulated Papillomatosis Patients With Obesity: A Retrospective Study.
Pediatr Dermatol
January 2025
Department of Dermatology, Baylor College of Medicine, Houston, Texas, USA.
An association between confluent and reticulated papillomatosis (CARP) and obesity has been reported; however, the relationship between CARP treatment response and obesity remains unknown. A retrospective chart review was performed of 92 pediatric patients diagnosed and treated for CARP during a 7-year period at a single institution. Twenty-three non-obese patients responded to therapy at a higher rate compared to 69 obese patients (100% vs.
View Article and Find Full Text PDFHealth Literacy Curricula in Pediatric Residency Programs: A National Survey.
Health Lit Res Pract
January 2025
Objective: Using health literacy informed communication strategies can mitigate health inequities. Despite the high prevalence of limited health literacy among parents and children, pediatricians infrequently use clear communication techniques and further education is imperative. There is minimal literature exploring health literacy curricula in pediatric residencies.
View Article and Find Full Text PDFWorldwide Policy, Surveillance, and Research on Physical Education and School-Based Physical Activity: The Global Observatory for Physical Education (GoPE!) Conceptual Framework and Research Protocol.
J Phys Act Health
January 2025
Department of Health and Kinesiology, University of Illinois Urbana-Champaign, Urbana, IL, USA.
Introduction: The Global Observatory for Physical Education (GoPE!) builds on the Global Observatory for Physical Activity (GoPA!) to address gaps in surveillance, policy, and research on physical education (PE) and activity (PA). GoPE! is a worldwide surveillance system of quality PE and school-based PA that informs policy and interventions and allows comparative analysis so that each country and region can check their status and progress. This paper presents GoPE!'s conceptual framework and describes the research protocol as a cross-continental and evidence-based surveillance system.
View Article and Find Full Text PDFSix-Month Outcomes in the Long-Term Outcomes After the Multisystem Inflammatory Syndrome in Children Study.
JAMA Pediatr
January 2025
Department of Cardiology, Harvard Medical School and Boston Children's Hospital, Boston, Massachusetts.
Importance: Multisystem inflammatory syndrome in children (MIS-C) is a life-threatening complication of COVID-19 infection. Data on midterm outcomes are limited.
Objective: To characterize the frequency and time course of cardiac dysfunction (left ventricular ejection fraction [LVEF] <55%), coronary artery aneurysms (z score ≥2.
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