Refractive errors in children in the outpatient department of China-Dominica Friendship Hospital in Dominica-a cross-sectional study. [PDF]
BMC OphthalmolLu Z, Chen D, Chen J.
europepmc +1 more source
Clinical Genetics, EarlyView.RDH11 is a minor isoenzyme that catalyses the oxidation of 11‐cis‐retinol to 11‐cis‐retinal in the retinal pigment epithelium, alongside RDH5 and RDH10. Biallelic null variants in RDH11 lead to upregulation of RDH5 and RDH10 (transcriptional adaptation), maintaining 11‐cis‐retinal bioavailability, but still causing Retinal Pigment Epitheliopathy due to
Kirk A. J. Stephenson +11 more
wiley +1 more source
Clinical Genetics, EarlyView.This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau +7 more
wiley +1 more source
Comparison of Seasonal Variation in Myopia Progression: Defocus Incorporated Multiple Segment Spectacle Lenses in Combination with 0.01% Atropine vs Orthokeratology. [PDF]
Clin OphthalmolLi X +6 more
europepmc +1 more source
Expanding Phenotype of GINS1 Deficiency: A Case Report and Review of the Literature
Clinical Genetics, EarlyView.The authors present a novel case and review of individuals with GINS1 deficiency, causing severe growth restriction and combined immunodeficiency. Only the ninth case of this ultrarare disorder, it highlights the role of these variants in disease, glaucoma as a feature, and the possibility of immunodeficiency without infections in affected individuals.
Michael P. Mackley +6 more
wiley +1 more source
WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes
Clinical Genetics, EarlyView.In seven individuals heterozygous for loss‐of‐function or conserved missense variants, we demonstrate that loss of WDTC1 function causes a neurodevelopmental syndrome characterized by developmental delay, intellectual disability, and seizures.
Elyssa Smith +15 more
wiley +1 more source
The differential effects of lutein and zeaxanthin supplementation on myopia prevention in adolescents: a systematic review and Meta-analysis. [PDF]
Int J OphthalmolPei L, Mo Y, Duan JG.
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Effect of orthokeratology lens wear on axial length elongation in myopic children. [PDF]
Front Med (Lausanne)Li X +9 more
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How to Imagine Educational AI: The Filling of a Pail or the Lighting of a Fire?
Educational Theory, EarlyView.Abstract Recent advances in artificial intelligence (e.g., machine learning, generative AI) have led to increased interest in its application in educational settings. AI companies hope to revolutionize teaching and learning by tailoring material to the individual needs of students, automating parts of teachers' jobs, or analyzing educational data to ...
Michał Wieczorek, Alberto Romele
wiley +1 more source
Speculation in the United Kingdom, 1785‒2019
The Economic History Review, EarlyView.Abstract Speculation has long been thought to have significant economic effects, but it is difficult to measure, making it challenging to examine these effects empirically. In this paper we measure speculation in the United Kingdom since 1785 by using business and financial reporting in The Times newspaper.
William Quinn +2 more
wiley +1 more source