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Advancing Insights into Pediatric Macular Diseases: A Comprehensive Review.
J Clin Med
January 2025
Department of Ophthalmology, Boston Children's Hospital, Boston, MA 02115, USA.
Pediatric macular disorders are a diverse group of inherited retinal diseases characterized by central vision loss due to dysfunction and degeneration of the macula, the region of the retina responsible for high-acuity vision. Common disorders in this category include Stargardt disease, Best vitelliform macular dystrophy, and X-linked retinoschisis. These conditions often manifest during childhood or adolescence, with symptoms such as progressive central vision loss, photophobia, and difficulty with fine visual tasks.
View Article and Find Full Text PDFNeurobehavioral Outcomes Relate to Activation Ratio in Female Carriers of Fragile X Syndrome Full Mutation: Two Pediatric Case Studies.
Int J Mol Sci
January 2025
Department of Women's and Children's Health, University of Padova, 35128 Padova, Italy.
Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder that causes a range of developmental problems including cognitive and behavioral impairment and learning disabilities. FXS is caused by full mutations (FM) of the gene expansions to over 200 repeats, with hypermethylation of the cytosine-guanine-guanine (CGG) tandem repeated region in its promoter, resulting in transcriptional silencing and loss of gene function. Female carriers of FM are typically less impaired than males.
View Article and Find Full Text PDFMotor Learning Deficits in a Neonatal Mouse Model of Hypoxic-Ischemic Injury.
Children (Basel)
December 2024
Department of Pediatrics, Division of Neonatology, University of Virginia, Charlottesville, VA 22908, USA.
Background/objectives: Motor deficits following neonatal brain injury, from cerebral palsy to subtle deficits in motor planning, are common yet underreported. Rodent models of motor deficits in neonatal hypoxia-ischemia (HI) allow improved understanding of the underlying mechanisms and neuroprotective strategies. Our goal was to test motor performance and learning in a mouse model of neonatal HI.
View Article and Find Full Text PDFOculomotor Function in Children and Adolescents with Autism, ADHD or Co-occurring Autism and ADHD.
J Autism Dev Disord
January 2025
School of Psychological Sciences, Monash University, 18 Innovation Walk, Melbourne, VIC, 3800, Australia.
Oculomotor characteristics, including accuracy, timing, and sensorimotor processing, are considered sensitive intermediate phenotypes for understanding the etiology of neurodevelopmental conditions, such as autism and ADHD. Oculomotor characteristics have predominantly been studied separately in autism and ADHD. Despite the high rates of co-occurrence between these conditions, only one study has investigated oculomotor processes among those with co-occurring autism + ADHD.
View Article and Find Full Text PDFThe influence of positive and negative intraoperative feedback in laparoscopic simulation in pediatric urology training.
J Pediatr Urol
January 2025
Department of Pediatric Surgery and Urology, National Reference Center for Rare Urinary Tract Malformations (CRMR MARVU), ERN eUROGEN Accredited Center, Robert-Debré University Hospital, APHP, GHU North, Health Simulation Department, iLumens, Université Paris Cité, Paris, France; UMR INSERM 1141 NEURODEV, Paris, France. Electronic address:
Background And Objective: This study aimed to explore the impact of positive or negative feedback on the performance of trainees in pediatric urology during simulation exercises in pediatric laparoscopy.
Methods: Twenty-five students enrolled in a national Pediatric Urology Laparoscopy Simulation participated in the study. They performed the Fundamentals of Laparoscopic Surgery (FLS) skills, specifically peg-transfer and intracorporeal knot-tying, in a randomized study design while receiving positive or negative feedback from an attending pediatric urologist.
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