Publications by authors named "B Hainline"

Athletes and non-athletes experience many anxiety-related symptoms and disorders at comparable rates. Contributory factors may include pressure to perform, public scrutiny, sporting career dissatisfaction, injury, and harassment and abuse in sport. Anxiety may negatively impact sport performance.

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Purpose: We sought to delineate a multisystem disorder caused by recessive cysteine-rich with epidermal growth factor-like domains 1 (CRELD1) gene variants.

Methods: The impact of CRELD1 variants was characterized through an international collaboration utilizing next-generation DNA sequencing, gene knockdown, and protein overexpression in Xenopus tropicalis, and in vitro analysis of patient immune cells.

Results: Biallelic variants in CRELD1 were found in 18 participants from 14 families.

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In 2019, the International Olympic Committee (IOC) published a consensus statement outlining the principles for recording and reporting injury and illness in elite sport. The authors encouraged sport federations to adapt the framework to their sport-specific context. Since this publication, several sports have published extensions to the IOC consensus statement.

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Article Synopsis
  • The 6th International Conference on Concussion in Sport took place in Amsterdam from October 27-30, 2022, leading to a new consensus statement and updates on concussion protocols.
  • In preparation, author groups conducted extensive systematic reviews over 3½ years on key concussion-related topics, informing the conference discussions and outcomes.
  • The conference introduced revised tools like CRT6 and SCAT6, emphasized the importance of the para athlete's perspective, and highlighted gaps in research concerning concussion prevention and long-term effects.
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  • Pyruvate carboxylase (PC) deficiency is a rare genetic disorder that leads to severe health issues like lactic acidosis and neurological problems, with few treatment options available.
  • Triheptanoin, an anaplerotic agent, has been tested in a small group of individuals with varying results, indicating potential but inconsistent benefits in lowering blood lactate levels and improving quality of life.
  • Analysis revealed that individuals with specific mutations in the PC enzyme may respond better to triheptanoin, highlighting the need for more research to understand these differences in treatment response.
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