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A Physician-Centered Craniofacial Asymmetry Index for the Severity of Plagiocephaly: A Comparative Study of Assessment Methods.
Ann Plast Surg
December 2024
Department of Plastic and Reconstructive Surgery and Craniofacial Research Center, Chang Gung Memorial Hospital, Chang Gung University, Taoyuan, Taiwan.
Background: Plagiocephaly, wherein infants' head exhibits a diagonal asymmetry, is currently diagnosed based on physicians' subjective judgment. Discrepancies between physician and parent perspectives may result in dissatisfaction with treatment outcomes. This problem highlights the need for an objective assessment system aligning with physician-made clinical diagnoses.
View Article and Find Full Text PDFHighly asymmetric early presentation of FEVR requiring enucleation.
Ophthalmic Genet
December 2024
Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, Ontario, Canada.
Article Synopsis
- Familial exudative vitreoretinopathy (FEVR) is a rare genetic condition affecting retinal blood vessel development, often mistaken for retinoblastoma in infants with severe symptoms.
- A case involved a 2-month-old girl with eye abnormalities and MRI findings that helped confirm FEVR after the left eye was removed for further investigation.
- Genetic testing revealed a new variant linked to FEVR, emphasizing the need to differentiate it from retinoblastoma due to overlapping symptoms in young children.
Understanding paralogous epilepsy-associated GABA receptor variants: Clinical implications, mechanisms, and potential pitfalls.
Proc Natl Acad Sci U S A
December 2024
School of Medical Sciences, Faculty of Medicine and Health, Brain and Mind Centre, The University of Sydney, Sydney, NSW 2006, Australia.
Recent discoveries have revealed that genetic variants in γ-aminobutyric acid type A (GABA) receptor subunits can lead to both gain-of-function (GOF) and loss-of-function (LOF) receptors. GABA receptors, however, have a pseudosymmetrical pentameric assembly, and curiously diverse functional outcomes have been reported for certain homologous variants in paralogous genes (paralogous variants). To investigate this, we assembled a cohort of 11 individuals harboring paralogous M1 proline missense variants in , , and Seven mutations (α1, α1, β2, β3, β3, γ2, and γ2) in α1β2/3γ2 receptors were analyzed using electrophysiological examinations and molecular dynamics simulations.
View Article and Find Full Text PDFUnderstanding the Politics of Food Regulation and Public Health: An Analysis of Codex Standard-Setting Processes on Food Labelling.
Int J Health Policy Manag
December 2024
Sydney School of Public Health, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
Background: The importance of the international food regulatory system to global health, is often overlooked. There are calls to reform this system to promote healthy and sustainable food systems centred on the Codex Alimentarius Commission (Codex), the United Nation's (UN's) standard-setting body. Yet this presents a significant political challenge, given Codex has historically prioritized food safety risks over wider harms to public health, and is dominated by powerful food exporting nations and industry groups with a primary interest in trade expansion.
View Article and Find Full Text PDFVersatile Strategy for the Chemoenzymatic Synthesis of Branched Human Milk Oligosaccharides Containing the Lacto-N-Biose Motif.
Angew Chem Int Ed Engl
November 2024
Department of Chemistry, National Tsing Hua University, 101 Section 2, Kuang Fu Road, Hsinchu, 30013, Taiwan.
Human milk oligosaccharides (HMOs) exhibit prebiotic, antimicrobial, and immunomodulatory properties and confer significant benefits to infants. Branched HMOs are constructed through diverse glycosidic linkages and prominently feature the lacto-N-biose (LNB, Gal-β1,3-GlcNAc) motif with fucose and/or sialic acid modifications, displaying structural complexity that surpasses that of N- and O-glycans. However, synthesizing comprehensive libraries of branched HMO is challenging due to this complexity.
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