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Early Severe Cortical Involvement and Novel FUCA1 Mutations in a Pediatric Fucosidosis Case.
Mol Genet Genomic Med
February 2025
Department of Pediatric Neurology, Hospital Universitario Quirónsalud, Madrid, Spain.
Background: Biallelic pathogenic variants in the FUCA1 gene are associated with fucosidosis. This report describes a 4-year-old boy presenting with psychomotor regression, spasticity, and dystonic postures.
Methods And Results: Trio-based whole exome sequencing revealed two previously unreported loss-of-function variants in the FUCA1 gene.
Determinants for successful medullary fixation of the superior ramus.
Injury
January 2025
Department of Orthopaedic Surgery, Cedars - Sinai Medical Center, Los Angeles, CA, USA. Electronic address:
Objectives: The purpose of this study is to determine what demographic and anatomical variables affect successful placement of a superior medullary ramus screw, and how they affect the maximal diameter of that screw.
Methods: Design: Prognostic Level IV SETTING: Level I Trauma Center Patients/Participants: Two hundred consecutive patients underwent computed tomography (CT) of the pelvis. We included those patients aged 18 and older without osseous injury or abnormalities precluding measurement.
Study Design: Retrospective cohort study.
Objective: Frailty is defined as a state of minimal "physiologic reserve." The modified 5 factor frailty index (mFI-5) is a recently proposed metric for assessing frailty and has been previously studied as a predictor of morbidity and mortality.
Basal ganglia components have distinct computational roles in decision-making dynamics under conflict and uncertainty.
PLoS Biol
January 2025
Carney Institute for Brain Science, Department of Cognitive & Psychological Sciences, Brown University, Providence, Rhode Island, United States of America.
The basal ganglia (BG) play a key role in decision-making, preventing impulsive actions in some contexts while facilitating fast adaptations in others. The specific contributions of different BG structures to this nuanced behavior remain unclear, particularly under varying situations of noisy and conflicting information that necessitate ongoing adjustments in the balance between speed and accuracy. Theoretical accounts suggest that dynamic regulation of the amount of evidence required to commit to a decision (a dynamic "decision boundary") may be necessary to meet these competing demands.
View Article and Find Full Text PDFAnnular Closure Device Reduces Symptomatic Reherniation Rates: Results of a Meta-analysis.
HSS J
February 2025
Department of Spine Surgery, Hospital for Special Surgery, New York, NY, USA.
The scope of existing annular closure device (ACD) studies examining long-term follow-up data is limited. There is a paucity of studies that report and analyze recent outcomes data following ACD use. We sought to summarize the available long-term follow-up data on postoperative outcomes of the Barricaid (Intrinsic Therapeutics) ACD.
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