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Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study.
Am J Med Genet A
December 2024
Division of Medical Genetics, Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA.
Article Synopsis
- - The study evaluated the efficacy of telehealth in conducting physical examinations (PE) for individuals with undiagnosed and rare disorders, comparing virtual assessments to in-person examinations.
- - Results showed high agreement in general appearance and craniofacial features between telehealth and in-person evaluations, with varying levels of agreement for neurological examination components.
- - Participants reported satisfaction with the telehealth experience, indicating that telehealth is a viable alternative for conducting physical examinations in cases of undiagnosed diseases.
Unifying Subicular Function: A Predictive Map Approach.
bioRxiv
November 2024
Department of Cell and Developmental Biology, University College London, London, UK.
The successor representation has emerged as a powerful model for understanding mammalian navigation and memory; explaining the spatial coding properties of hippocampal place cells and entorhinal grid cells. However, the diverse spatial responses of subicular neurons, the primary output of the hippocampus, have eluded a unified account. Here, we demonstrate that incorporating rodent behavioural biases into the successor representation successfully reproduces the heterogeneous activity patterns of subicular neurons.
View Article and Find Full Text PDFAdvancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network.
Am J Med Genet A
February 2025
John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.
Article Synopsis
- * The Undiagnosed Diseases Network (UDN) aims to improve diagnosis rates and research participation among these groups, but a review of 2235 participants shows underrepresentation of Hispanic and Black non-Hispanic individuals compared to the broader U.S. population.
- * Diagnosis rates varied by ethnicity, with higher rates for Asian non-Hispanic (39.5%) and Hispanic (35.3%) groups, while White non-Hispanic participants had the lowest at 26.8%; however, differences in diagnostic yields were not significant when controlling for factors like age and disease phenotype. *
Craters on the melanoma surface facilitate tumor-immune interactions and demonstrate pathologic response to checkpoint blockade in humans.
bioRxiv
September 2024
Harvard Stem Cell and Regenerative Biology Department, Harvard University; Boston, MA, USA.
Immunotherapy leads to cancer eradication despite the tumor's immunosuppressive environment. Here, we used extended long-term in-vivo imaging and high-resolution spatial transcriptomics of endogenous melanoma in zebrafish, and multiplex imaging of human melanoma, to identify domains that facilitate immune response during immunotherapy. We identified crater-shaped pockets at the margins of zebrafish and human melanoma, rich with beta-2 microglobulin (B2M) and antigen recognition molecules.
View Article and Find Full Text PDFExperience of Euclidean geometry sculpts the development and dynamics of rodent hippocampal sequential cell assemblies.
Nat Commun
September 2024
Department of Psychiatry, Yale School of Medicine, New Haven, CT, USA.
Euclidean space is the fabric of the world we live in. Whether and how geometric experience shapes our spatial-temporal representations of the world remained unknown. We deprived male rats of experience with crucial features of Euclidean geometry by rearing them inside spheres, and compared activity of large hippocampal neuronal ensembles during navigation and sleep with that of cuboid cage-reared controls.
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