Publications by authors named "E George Elias"

The explosive growth of individuals identifying as multiracial in the U.S. population has motivated significant interest in multiracial face perception.

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  • * The analysis included data from 81 articles and indicated that the overall incidence of treatment-related pancreatitis was low (0.68% for any-grade, 0.32% for grade 3-5), but the addition of ICIs significantly increased these rates.
  • * Treatment outcomes showed that glucocorticoids were commonly used, while a high percentage of patients (76.5%) had to discontinue ICI therapy due to these adverse events, indicating important clinical implications for managing ICI-related pancreatitis.
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Introduction: Penttinen premature aging syndrome is caused by mutations in the PDGFRB gene. We describe the case of a 10-year-old girl with a de novo c.1994T>C variant in PDGFRB who developed multiple cranial, intracranial, and spinal manifestations, including macrocephaly, enlarged convexity subarachnoid spaces crossed by numerous vascularized arachnoid trabecule, hydrocephalus, spinal epidural lipomatosis, a low conus medullaris, calvarial thinning with large anterior fontanelle, and a skull fracture with bilateral epidural hematomas.

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Chronic stress is a major precursor to various neuropsychiatric disorders and is linked with increased inflammation in the brain. However, the bidirectional association between inflammation and chronic stress has yet to be fully understood. Astrocytes are one of the key inflammatory regulators in the brain, and the morphological change in reactive astrocytes serves as an important indicator of inflammation.

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  • * The study identifies RNU4-2, a non-coding RNA gene, as a significant contributor to syndromic NDD, revealing a specific 18-base pair region with low variation that includes variants found in 115 individuals with NDD.
  • * RNU4-2 is highly expressed in the developing brain, and its variants disrupt splicing processes, indicating that non-coding genes play a crucial role in rare disorders, potentially aiding in the diagnosis of thousands with NDD worldwide.
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