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Background: Most cases of pediatric epistaxis are spontaneous and self-resolve. However, a subset of children may experience significant bleeding and require procedural or medical intervention., Objective: We aim to identify risk factors associated with moderate and severe epistaxis in the emergency department (ED) and explore management outcomes., Methods: We retrospectively reviewed all patients under 22 years old with epistaxis who presented to our ED between 2013 and 2022. Epistaxis severity was defined as mild (required nasal compression or intranasal medications), moderate (required cautery or packing), or severe (required factor replacement, transfusion, hospital admission, or surgery). We performed univariable and multinomial regression analyses, with risk factors and outcomes analyzed according to severity., Results: Of 858 visits, 41 (5%) patients had moderate and 67 (8%) had severe epistaxis. Patients with moderate epistaxis were older than those with mild and severe epistaxis (median 15.6 vs. 8.3 vs. 10.7 years, p < 0.001). In regression analysis, moderate epistaxis was associated with older age, prior ED visit within 72 h, and antiplatelet medication use (p < 0.01). Severe epistaxis was associated with bleeding disorders, nasal procedures within 30 days, and anticoagulation medication use (p ≤ 0.001). Bleeding over 30 min prior to arrival was associated with both moderate and severe epistaxis (p < 0.05). Of the 67 patients with severe epistaxis, 10 (15%) required factor replacement, 28 (42%) required transfusion, 52 (77%) required hospital admission, and 5 (7%) underwent surgery., Conclusion: Epistaxis severity is associated with certain risk factors. However, most cases of pediatric epistaxis are mild and do not require intervention or ED evaluation., Competing Interests: Declaration of competing interest The authors report no conflict of interest., (Copyright © 2023 Elsevier Inc. All rights reserved.)

Background: Heterozygous KMT2B variants are a common cause of dystonia. A novel synonymous KMT2B variant, c.5073C>T (p.Gly1691=) was identified in an individual with childhood-onset progressive dystonia., Methods: The splicing impact of c.5073C>T was assessed using an in vitro exon-trapping assay. The genomic region of KMT2B exons 23-26 was cloned into the pSpliceExpress plasmid between exon 2 and 3 of the rat Ins2 gene. The c.5073C>T variant was then introduced through site-directed mutagenesis. The KMT2B wild-type and c.5073C>T plasmids were transfected separately into HeLa cells and RNA was extracted 48 hours after transfection. The RNA was reverse transcribed to produce cDNA, which was PCR amplified using primers annealing to the flanking rat Ins2 sequences., Results: Sanger sequencing of the PCR products revealed that c.5073C>T caused a novel splice donor site and therefore a 5-bp deletion of KMT2B exon 23 in mature mRNA, leading to a coding frameshift and premature stop codon (p.Lys1692AsnfsTer7)., Conclusion: To our knowledge, this is the first report of a KMT2B synonymous variant associated with dystonia. Reassessment of synonymous variants may increase diagnostic yield for inherited disorders including monogenic dystonia. This is of clinical importance, given the generally favourable response to deep brain stimulation for KMT2B-related dystonia., (© 2022 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)