RESUMEN
OBJECTIVE: To investigate whether the long-term presence of a patulous Eustachian tube (PET) is associated with sensorineural hearing loss (SNHL). STUDY DESIGN: Retrospective chart review. SETTING: Tertiary referral center. PATIENTS: Ears (nâ=â100) were classified into two groups based on duration of PET symptom(s), i.e., Short (≤3 mo; nâ=â47 ears) and Long (≥48 mo; nâ=â53 ears). Contralateral ears without PET (nâ=â28 ears) were classified as the Contralateral group. MAIN OUTCOME MEASURES: We used ISO 7029 to calculate the hearing thresholds of an age- and sex-matched population at a given frequency. Hearing loss was defined as >25% of these calculated values. RESULTS: At 4âkHz, the Long PET group showed a higher prevalence of hearing loss (47%) at 4âkHz than did the Contralateral (21%) and Short PET (19%) groups (pâ=â0.0280 and 0.0043, respectively). Ears with breathing autophony or a sonotubometric low probe tone level showed a higher prevalence of hearing loss at 4âkHz than those without this symptom or with a high probe tone level (pâ=â0.0329 or 0.0103, respectively). At low frequencies, ≥89% of the ears in all groups showed mild hearing loss. CONCLUSION: Chronic PET was associated with SNHL at 4âkHz. PET patients showed low-frequency hearing loss regardless of disease duration. Further studies are needed to better understand the pathophysiology of SNHL in patients with PET.
Asunto(s)
Trompa Auditiva , Pérdida Auditiva Sensorineural , Otitis Media , Trompa Auditiva/diagnóstico por imagen , Audición , Pérdida Auditiva Sensorineural/diagnóstico por imagen , Pérdida Auditiva Sensorineural/epidemiología , Pérdida Auditiva Sensorineural/etiología , Humanos , Estudios RetrospectivosRESUMEN
OBJECTIVE: Evaluating the prevalence of specific gene mutations associated with a certain audiometric configuration facilitates clinical assessment of patients with sensorineural hearing loss (SNHL). WFS1 is responsible for autosomal dominant nonsyndromic deafness 6/14/38 and is the most frequent genetic cause of low-frequency SNHL (LFSNHL); however, the exact prevalence of WFS1 mutations in LFSNHL is unknown. Therefore, we evaluated genetic mutations and clinical features in patients with nonsyndromic bilateral LFSNHL, focusing on the WFS1. STUDY DESIGN: Retrospective case series from 2002 to 2013 at the National Hospital Organization Tokyo Medical Center and collaborating hospitals. METHODS: WFS1, GJB2, and mitochondrial DNA mutation screening was carried out for 74 of 1,007 Japanese probands with bilateral LFSNHL. RESULTS: WFS1 and GJB2 mutations were identified in eight of 74 cases (10.8%). Four cases had heterozygous WFS1 mutations; one case had a heterozygous WFS1 mutation and a heterozygous GJB2 mutation; and three cases had biallelic GJB2 mutations. Three cases with WFS1 mutations were sporadic; two of them were confirmed to be caused by a de novo mutation based on the genetic analysis of their parents. In the case with mutations in both WFS1 and GJB2, a de novo mutation of WFS1 was confirmed in the proband's mother by genetic screening of the mother's parents. CONCLUSION: Genetic screening focusing on LFSNHL has not been conducted. The present study first revealed the prevalence of specific gene mutations. WFS1 autosomal dominant mutations were identified even in sporadic cases. Our results also suggested a mutational hotspot in WFS1. LEVEL OF EVIDENCE: 4. Laryngoscope, 127:E324-E329, 2017.