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Basic Science and Pathogenesis.
Alzheimers Dement
December 2024
CellSight Ocular Stem Cell and Regeneration Program, Sue Anschutz-Rodgers Eye Center, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Background: Down Syndrome (DS) is a genetic disorder caused by the triplication of human chromosome 21 that affects approximately 1 in 700 people born in the U.S. People with DS are at a greater risk of developing Alzheimer's disease (AD), with practically all individuals developing AD histopathology and more than half progressing to dementia.
View Article and Find Full Text PDFPhenotype Spectrum of TRPM3-Associated Disorders.
Ann Neurol
January 2025
Department of Pediatric Neurology, Charité-Universitätsmedizin Berlin, Berlin, Germany.
Objective: Monoallelic variants in the transient receptor potential melastatin-related type 3 gene (TRPM3) have been associated with neurodevelopmental manifestations, but knowledge on the clinical manifestations and treatment options is limited. We characterized the clinical spectrum, highlighting particularly the epilepsy phenotype, and the effect of treatments.
Methods: We analyzed retrospectively the phenotypes and genotypes of 43 individuals with TRPM3 variants, acquired from GeneMatcher and collaborations (n = 21), and through a systematic literature search (n = 22).
Real-world analysis of medications inducing meibomian gland dysfunction: based on the FDA adverse event reporting system database.
Expert Opin Drug Saf
January 2025
Eye Institute & Affiliated Xiamen Eye Center, School of Medicine, Xiamen University, Xiamen, Fujian, China.
Background: Dry eye syndrome (DES) has become a significant public health issue, impacting quality of life. Meibomian Gland Dysfunction (MGD) is a primary contributor to DES, and its etiology includes diverse factors. Given the potential for drug-induced MGD, comprehensive investigation into this association is crucial.
View Article and Find Full Text PDFExploratory study on the efficacy of topical pan-JAK inhibitor in ocular and skin GVHD in a sclerodermatous GVHD mouse model.
Sci Rep
January 2025
Department of Ophthalmology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-0016, Japan.
Systemic administration of Janus kinase (JAK) inhibitors is effective in treating chronic graft-versus-host disease (cGVHD) but is associated with side effects. Topical drug administration effectively minimizes side effects. We aimed to investigate potential trends of the efficacy of topical delgocitinib administration in a mouse model.
View Article and Find Full Text PDFWearable electrodriven switch actively delivers macromolecular drugs to fundus in non-invasive and controllable manners.
Nat Commun
January 2025
Suzhou Key Laboratory of Nanotechnology and Biomedicine, Institute of Functional Nano & Soft Materials & Collaborative Innovation Center of Suzhou Nano Science and Technology (NANO-CIC), Soochow University, Suzhou, China.
Current treatments for fundus disorders, such as intravitreal injections, pose risks, including infection and retinal detachment, and are limited in their ability to deliver macromolecular drugs across the blood‒retinal barrier. Although non-invasive methods are safer, their delivery efficiency remains suboptimal (<5%). We have developed a wearable electrodriven switch (WES) that improves the non-invasive delivery of macromolecules to the fundus.
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