Publications by authors named "G B Schaefer"

Objective: To prospectively compare the shock index (SI) in a population of healthy cats with a population of cats presenting to the emergency room (ER) deemed to be in a state of shock.

Design: Prospective cohort study of cats.

Setting: University teaching hospital.

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Article Synopsis
  • The TAOK proteins are important kinases involved in various cellular functions and are linked to neurodevelopmental disorders (NDDs) like those caused by TAOK1 and TAOK2 variants.
  • A study analyzed clinical and genetic data from individuals with these variants, revealing that TAOK1 variants lead to significant neurodevelopmental issues and some novel characteristics, while TAOK2 variants are tied to neurodevelopmental abnormalities, autism, and obesity.
  • This research expands the understanding of these disorders by presenting the largest cohort of individuals with TAOK1-NDD and identifying new variants and phenotypes associated with both TAOK1 and TAOK2.
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Polygenic risk scores (PRSs) have recently been used to inform reproductive decision-making in the context of embryonic screening. While this is yet to be widespread, it is contested and raises several challenges. This article provides an overview of some of the ethical considerations that arise with using PRSs for embryo screening and offers a series of regulatory considerations for jurisdictions that may wish to permit this in the future.

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Background: Most body composition research in individuals with Down Syndrome (DS) has focused on overweight and obesity. Although limited research has shown muscle mass indexes and physical performance levels of adults with DS are similar to or lower than older adults with sarcopenia, there is still a large gap in the literature regarding sarcopenia.

Objective: This brief report provides a comprehensive descriptive analysis of sarcopenia and obesity markers in individuals with DS.

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