Publications by authors named "A E Pritchard"

Social support, via investment in relationships of importance with others, is often emphasized as a pathway towards mediating stress. The effectiveness of social support, however, can be altered by personality differences, but the physiological consequences of such covariation are still poorly explored. How do individual differences in the functioning of the stress response system mediate access to, and use of, social support? To examine this dynamic, we investigated glucocorticoids as a biomarker of energetic activation that may also be activated by chronic psychosocial stress.

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Article Synopsis
  • A study called ACTION-Galactosemia Kids evaluated the effects of govorestat, a drug for Classic Galactosemia, on children aged 2-17 by comparing it to a placebo over 18 months.
  • Govorestat showed a significant and lasting reduction in plasma galactitol levels, leading to stabilization or improvement in various clinical measures like behavior and daily living skills, while the placebo group showed decline.
  • Despite its benefits, govorestat did not show improvements in speech or gross motor skills, and both the drug and placebo groups experienced similar rates of adverse effects, indicating it is safe and well tolerated.
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Heterozygous de novo loss of function variants in the motor domain of KIF5C are associated with a neurodevelopmental disorder characterized by infantile-onset epilepsy, frontal cortical dysplasia, and developmental delays including motor and speech impairments. Previously, only three missense variants in KIF5C were known to be pathogenic. We identified an additional six patients with significant developmental delays with heterozygous de novo variants in the KIF5C gene (Glu237Val, Thr93Ile, Thr93Asn, Ser90del, Lys92Arg, and Glu237Lys), of which four variants have not been reported before.

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Understanding how the body is represented in motor cortex is key to understanding how the brain controls movement. The precentral gyrus (PCG) has long been thought to contain largely distinct regions for the arm, leg and face (represented by the "motor homunculus"). However, mounting evidence has begun to reveal a more intermixed, interrelated and broadly tuned motor map.

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