Factors related to the surgical outcomes of type I tympanoplasty for tympanic membrane perforation in children.

BACKGROUND: Factors related to surgical outcomes of type I tympanoplasty for tympanic membrane (TM) perforation in children are controversial. OBJECTIVES: To investigate factors related to anatomical results of type I tympanoplasty for TM perforation 1 year after surgery. MATERIAL AND METHODS: We examined 68 ears. Anatomical results were determined based on the presence or absence of re-perforation, atelectasis, and otitis media with effusion. We retrospectively analyzed factors based on age (≤8 and >8 years), cause and size of TM perforation (<50% and ≥50%), history of asthma and cleft palate, and size of mastoid air cell system in bilateral ears before tympanoplasty. Audiological prognosis was evaluated in ears with anatomical success 1 year after surgery. RESULTS: Anatomical success was achieved in 80.9% (55/68) of the ears. No significant differences were observed between these factors and anatomical results. All children with cleft palate had anatomical success. Mean pure-tone average (0.5-4 kHz) was 16.25 dB HL for ears with both TM perforations <50% and ≥50%. CONCLUSION AND SIGNIFICANCE: We observed no significant relationship between factors considered and surgical outcomes. However, audiological prognosis was favorable for anatomical success regardless of TM perforation size. Accordingly, type I tympanoplasty is considered useful for TM perforation in children.

Prognostic factors of early-onset otitis media with effusion in children treated using tympanostomy.

BACKGROUND: Predicting the prognosis of early-onset otitis media with effusion (OME) in children is difficult. OBJECTIVES: To investigate the prognostic factors of OME in children undergoing tympanostomy at 1 year of age. MATERIAL AND METHODS: We examined 66 children (123 ears) followed up to 6 years of age. OME prognosis was determined by a history of re-tympanostomy at the last examination. We retrospectively analysed the prognostic factors based on the duration of first ventilation tube (VT) placed, history of otorrhea, asthma, adenoidectomy, and mastoid air cell system (MACS) size at 1 year before tympanostomy and at 3 years. RESULTS: While 25 ears underwent re-tympanostomy (group 1), 98 did not (group 2). The mean duration of VT placed was 21 months and 25, and the mean MACS size at 3 years was 314 mm2 and 441, respectively, in the corresponding groups. MACS size at 3 years was significantly smaller in group 1 than in group 2. The combination of MACS size at 3 years and duration of VT placed showed the best value of area under the curve. CONCLUSION AND SIGNIFICANCE: The most probable prognostic factor was the combination of the MACS size at 3 years and duration of VT placed.

Long-term outcomes in children with and without cleft palate treated with tympanostomy for otitis media with effusion before the age of 2 years.

BACKGROUND: Long-term outcomes of children with and without cleft palate receiving early treatment for otitis media with effusion (OME) are unclear. OBJECTIVES: To compare long-term otological and audiological outcomes between children with and without cleft palate treated with tympanostomy for OME before the age of 2 years. MATERIAL AND METHODS: Ninety-five children (180 ears) with cleft palate (study group) and 97 children (185 ears) without (control group) were followed-up to a maximum age of 7 years. We retrospectively analyzed the audiological outcomes at the age of 7 years, and the otological outcomes at the last examination. RESULTS: The percentages of children with OME resolution before the age of 7 years were 47.4% and 60% in the study and control groups, respectively, and those of ears with healed tympanic membrane were 71.7% and 79.5% in the corresponding groups. Significantly more ears were subjected to retympanostomy in the study (31.1%) than in the control group (21.6%). Mean pure-tone average (0.5‒4 kHz) was 15.6 dB HL and 14.3 dB HL for the corresponding groups. CONCLUSIONS/SIGNIFICANCE: Otological and audiological outcomes in both groups were similar. The audiological prognosis was favorable regardless of the cleft palate condition.

WFS1 and GJB2 mutations in patients with bilateral low-frequency sensorineural hearing loss.

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.

Frequency and specific characteristics of the incomplete partition type III anomaly in children.

OBJECTIVES/HYPOTHESIS: To determine the frequency of the incomplete partition type III anomaly and the genetic and clinical features associated with POU3F4 mutations in children with hearing loss. STUDY DESIGN: Retrospective case series from 2000 to 2014 at the National Hospital Organization Tokyo Medical Center and collaborating hospitals. METHODS: A total of 1,004 patients (from 938 families) who had hearing loss by 10 years of age and had undergone computed tomography scanning of their temporal bones were enrolled in this genetic, clinical, and radiological study. RESULTS: The incomplete partition type III anomaly was identified in six patients (0.6%), each of whom had an enlargement of the vestibular aqueduct at the end close to the vestibule. The six patients also had POU3F4 variants, and a genetic analysis revealed frameshift deletions in three patients, a missense variant in two patients of the same family, and a large deletion in one patient. Three of the six patients with POU3F4 variants were sporadic cases, and in one patient the genetic mutation occurred de novo. CONCLUSIONS: It was indicated that POU3F4 mutations can be predicted by incomplete partition type III anomaly by radiological examination of the inner ear. All six of the patients showed mixed hearing loss, but none showed fluctuations in hearing, which may be related to the lack of vestibular aqueduct enlargement at the operculum. LEVEL OF EVIDENCE: 4 Laryngoscope, 127:1663-1669, 2017.

Subgroups of enlarged vestibular aqueduct in relation to SLC26A4 mutations and hearing loss.

OBJECTIVES/HYPOTHESIS: To investigate possible association of hearing loss and SLC26A4 mutations with the subgroups of enlarged vestibular aqueduct (EVA) morphology in Japanese subjects with hearing loss. STUDY DESIGN: Retrospective multicenter study. METHODS: Forty-seven subjects who had vestibular aqueduct with midpoint diameter >1 mm by computed tomography of the temporal bone were enrolled at multiple sites across Japan, and DNA samples and clinical data were collected. EVA morphology was classified into four subgroups by the pattern of enlargement: aperture, aperture and midpoint, midpoint, and borderline enlargement. Venous blood DNA samples were subjected to polymerase chain reaction-based direct sequencing of all exons and exon-intron boundaries of the SLC26A4. RESULTS: Four novel SLC26A4 mutations were identified in the present study. SLC26A4 mutations were detected in almost all subjects with aperture, aperture and midpoint, and midpoint enlargement. In contrast, 71% of subjects with borderline enlargement had no SLC26A4 mutation. No significant difference was found in the distribution of truncating and nontruncating SLC26A4 mutations between the EVA subgroups. In addition, no significant correlation was observed between the EVA subgroups and hearing levels, incidence of hearing fluctuation, or progression of hearing loss. CONCLUSIONS: Subgroups of EVA morphology were significantly correlated with the presence or absence of SLC26A4 mutation. In a subgroup analysis of subjects with SLC26A4 mutations, however, differences in the EVA subgroups were not correlated with SLC26A4 genotypes or characteristics of hearing loss. LEVEL OF EVIDENCE: NA.