Publications by authors named "Rebecca J Burke"

This perspective work by academic neonatal providers is written specifically for the audience of newborn care providers and neonatologists involved in neonatal hypoglycemia screening. Herein, we propose adding a screen for congenital hyperinsulinism (CHI) by measuring glucose and ketone (i.e.

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The etiologies of newborn deaths in neonatal intensive care units usually remain unknown, even after genetic testing. Whole-genome sequencing, combined with artificial intelligence-based methods for predicting the effects of non-coding variants, provide an avenue for resolving these deaths. Using one such method, SpliceAI, we identified a maternally inherited deep intronic PKHD1 splice variant (chr6:52030169T>C), in trans with a pathogenic missense variant (p.

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Article Synopsis
  • A study aimed to explore how genetic diagnoses in epilepsy patients impact their clinical management and health outcomes, focusing on data from patients tested for genetic variants between 2016 and 2020.
  • The research included 418 patients, with a median age of 4 years, and found that nearly half (49.8%) experienced changes in clinical management due to genetic results, often within three months.
  • Common changes included starting new medications, referrals to specialists, and monitoring for other health issues related to the genetic findings.*
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Acute rheumatic fever is an inflammatory sequela of Group A Streptococcal pharyngitis that affects multiple organ systems. The incidence of acute rheumatic fever has been declining even before the use of antibiotics became widespread, however the disease remains a significant cause of morbidity and mortality in children, particularly in developing countries and has been estimated to affect 19 per 100,000 children worldwide. Acute rheumatic fever is a clinical diagnosis, and therefore subject to the judgment of the clinician.

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