Background: Rapid integration of large language models (LLMs) in health care is sparking global discussion about their potential to revolutionize health care quality and accessibility. At a time when improving health care quality and access remains a critical concern for countries worldwide, the ability of these models to pass medical examinations is often cited as a reason to use them for medical training and diagnosis. However, the impact of their inevitable use as a self-diagnostic tool and their role in spreading health care misinformation has not been evaluated.
View Article and Find Full Text PDFAm J Med Genet B Neuropsychiatr Genet
December 2013
Intermediate alleles (27-35 CAG, IAs) for Huntington disease (HD) usually do not confer the disease phenotype but are prone to CAG repeat instability. Consequently, offspring are at-risk of inheriting an expanded allele in the HD range (≥36 CAG). IAs that expand into a new mutation have been hypothesized to be more susceptible to instability compared to IAs identified on the non-HD side of a family from the general population.
View Article and Find Full Text PDFA porphyrin-phospholipid conjugate with quenched fluorescence was utilized to serve as both the Raman dye and a stabilizing, biocompatible surface coating agent on gold nanoparticles. Through simple synthesis and validation with spectroscopy and confocal microscopy, we show that this porphyrin-lipid stabilized AuNP is a novel SERS probe capable of cellular imaging. To date, this is the first use of porphyrin as a Raman reporter molecule for SERS based imaging.
View Article and Find Full Text PDFHuntingtin Interacting Protein 14 (HIP14) is a palmitoyl acyl transferase (PAT) that was first identified due to altered interaction with mutant huntingtin, the protein responsible for Huntington Disease (HD). HIP14 palmitoylates a specific set of neuronal substrates critical at the synapse, and downregulation of HIP14 by siRNA in vitro results in increased cell death in neurons. We previously reported that mice lacking murine Hip14 (Hip14-/-) share features of HD.
View Article and Find Full Text PDFGold nanoparticle-based surface-enhanced Raman scattering (SERS) probes have shown promise for disease detection and diagnosis. To improve their structural and functional stability for in vivo applications, we synthesized a colloidal SERS gold nanoparticle that encapsulates Raman molecules adsorbed on 60 nm gold with a nonthiol phospholipid coating. Transmission electron microscopy and Raman and UV spectroscopy validated its reproducibility and stability.
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