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Importance: Phenol kits cleared by the Food and Drug Administration (FDA) are indicated as a topical anesthetic for the tympanic membrane (TM) in adults. However, there is no existing literature that reports outcomes to support the safety and use of phenol on the TM of awake children. Objective: Determine if topical phenol is safe and at low risk for complications and therefore be used effectively in awake children to facilitate office otologic procedures as in adults. Design, Setting, and Participants: Children under 21 years of age whose parents agreed to participate in an awake office setting for tympanostomy tube (TT) placement. All children had TT placement after phenol placement on the TM prior to insertion. Main Outcomes and Measures: TM perforation or other signs of TM complications through a minimum of 6-month clinical follow-up, along with assessment of the tolerability of the procedure by the child. Results: A total of 228 children with an age range of 6 months to 15.9 years and 435 TMs completed TT placement using phenol as a local anesthetic while awake in the office. There were no complications reported in the 204 children at the first follow-up visit post TM placement within 3 to 10 weeks. Of the 93 children followed up at least 6 months, there were no TM complications reported. Conclusions: This is the first study to report the outcomes on the use of phenol in an office setting in children. In this large experience, phenol appears to be tolerable and safe for use in young children in the office and is a potential safe choice of topical anesthesia for surgeons if they choose to perform office procedures such as myringotomies or TT placement on children.
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OBJECTIVES: Insertion of tympanostomy tubes (TT) is generally accomplished in children in the operating room under general anesthesia. We report on 229 children treated in-office with a novel device. METHODS: Investigators participated in an IRB-approved, prospective, single arm, multisite investigation of in-office TT placement in awake children. Topical anesthetic was applied, and protective restraint was used. TT placement was performed with a single-pass TT insertion device. Safety was assessed by monitoring procedural events. RESULTS: Four hundred and forty-four ears were treated in 229 children at 10 sites. Children were in age groups 6-24 months (n = 211, mean = 13 months) and 5-12 years (n = 18, mean = 8.3 years). Two hundred and fifteen children received bilateral TT placement, and 14 received unilateral placement. Overall, 226/229 (98.7%) children had successful TT placement in the office (209/211 in 6-24 months and 17/18 in 5-12 years). Three children were rescheduled for the operating room due to anatomical challenges or patient movement. Median procedure time for bilateral cases in both age groups was 4:53. Two minor adverse events (AEs) were reported in one patient. Per independent assessment of 30 procedure videos by clinicians, TT placement was tolerated acceptably by all children. CONCLUSION: In-office TT placement in awake young children using topical anesthetic, enabled by a single pass delivery device, was safe, successful and well tolerated. The American Academy of Otolaryngology (AAO) recently released a Position Statement supporting in-office TT placement in appropriate children. These results affirm an in-office alternative for clinicians and parents who have concerns with the risk, inconvenience and cost of surgery in an operating room under general anesthesia.Level of Evidence: 2c.Clinical Trials Registration Number: NCT03544138.
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PURPOSE: Hearing loss is a common congenital disorder that is frequently associated with mutations in the GJB2 gene encoding the connexin 26 protein (Cx26). We sought to evaluate the effectiveness of direct DNA sequencing for detection of Cx26 mutations as a clinical diagnostic test. METHODS: We designed a clinical assay using a three-step polymerase chain reaction (PCR)-based DNA sequencing strategy to detect all possible mutations in the open reading frame and flanking sequences of Cx26. The results of the first 324 cases of childhood deafness referred for diagnostic testing were analyzed. RESULTS: A total of 127 of the 324 (39.2%) cases had at least one mutant Cx26 allele (36.1% of sporadic cases, 70% of familial cases). Of these 127 case, 57 (44.8%) were homozygotes or compound heterozygotes. Thirty-four different mutations were identified, including 10 novel mutations, 6 of which (T8M, K15T, R32L, M93I, N206S, and 511-512insAACG) may be pathogenic. We also provide new evidence on the pathogenicity or nonpathogenicity of 12 previously reported mutations, and clarify the confusing nomenclature of the 313-326del14 mutation. CONCLUSION: A simple and rigorous method for efficient PCR-based sequence analysis of Cx26 is a sensitive clinical assay for evaluating deaf children. Its widespread use is likely to identify additional pathogenic mutations and lead to a better understanding of the clinical significance of previously identified mutations.
