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• W2913506908 abstract "<b><i>Background:</i></b> Acute bilirubin encephalopathy (ABE) is a potentially devastating condition that can lead to death or life-long neurodevelopmental handicaps. ABE is particularly tragic because it is, in theory, completely preventable. Progress toward its prevention has been hampered by the perception that the extreme hyperbilirubinemia giving rise to ABE typically has no clear causation, with the majority of previous cases being labeled as “idiopathic” neonatal jaundice. <b><i>Objectives:</i></b> This research briefing<i></i> is intended to inform readers of a new prospective study aimed at clarifying the causes of ABE. This is accomplished by identifying qualifying patients with ABE anywhere in the USA and then documenting their clinical characteristics and the results of testing 28 specific genetic associations in a web-based, institutional review board-approved, REDCap (research electronic data capture) deidentified registry. <b><i>Methods:</i></b> In this research briefing, we present an overview of ABE and discuss the problem that most patients in the past have been labeled as having “idiopathic” hyperbilirubinemia. We also present data supporting a new theory that most (perhaps all) ABE patients have mutations or polymorphisms in genes involved in bilirubin production or metabolism. We introduce a new registry seeking to enroll 100 neonates with ABE as a voluntary, deidentified database, with next generation sequencing of 28 genes involved in bilirubin production/metabolism provided to enrollees at no cost. <b><i>Results and Conclusions:</i></b> The Neonatal Acute Bilirubin Encephalopathy Registry (NABER) study will correlate deidentified clinical and genetic data in order to clarify the underlying causes of hyperbilirubinemia in current ABE patients. We maintain that the improved understanding this study produces will constitute a needed step toward devising new clinical pathways and strategies for preventing ABE in neonates." @default.
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• W2913506908 date "2019-01-01" @default.
• W2913506908 modified "2023-09-29" @default.
• W2913506908 title "The Neonatal Acute Bilirubin Encephalopathy Registry (NABER): Background, Aims, and Protocol" @default.
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• W2913506908 doi "https://doi.org/10.1159/000495518" @default.
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