A prospective observational study to investigate the correlation analysis between neonatal hyperbilirubinemia and deafness gene Study protocol clinical trial (SPIRIT compliant)

MEDICINE(2020)

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摘要
Introduction: There are many studies on the relationship between serum levels of hyperbilirubinemia and hearing impairment. However, the mechanism of hyperbilirubinemia on auditory impairment is not clear. Methods and analysis: A total of 1000 children with hyperbilirubinemia who are mainly indirectly elevated bilirubin in the full-term neonatal ward of Xiamen Children's Hospital from March 2020 to September 2020 will be enrolled. Using second-generation high-throughput sequencing technology, 127 deaf-related genes were sequenced from the collected samples. At the same time, physical audiometry was performed on the selected persons and audiometry data were recorded. Discussion: In this study, we will combine gene sequencing with clinical indications of hyperbilirubinemia to find the loci suitable for high-frequency pathogenic deafness related to hyperbilirubinemia, so as to provide early guidance for deafness gene screening in children with hyperbilirubinemia.
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关键词
deafness,gene sequencing,neonatal hyperbilirubinemia
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