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In temporal bone specimens from long-term cochlear implant users, foreign body response within the cochlea has been demonstrated. However, how hearing changes after implantation and fibrosis progresses within the cochlea is unknown. To investigate the short-term dynamic changes in hearing and cochlear histopathology in minipigs after electrode array insertion. Twelve minipigs were selected for electrode array insertion (EAI) and the Control. Hearing tests were performed preoperatively and on 0, 7, 14, and 28 day(s) postoperatively, and cochlear histopathology was performed after the hearing tests on 7, 14, and 28 days after surgery. Electrode array insertion had a significant effect for the frequency range tested (1 kHz–20kHz). Exudation was evident one week after electrode array insertion; at four weeks postoperatively, a fibrous sheath formed around the electrode. At each time point, the endolymphatic hydrops was found; no significant changes in the morphology and packing density of the spiral ganglion neurons were observed. The effect of electrode array insertion on hearing and intracochlear fibrosis was significant. The process of fibrosis and endolymphatic hydrops seemed to not correlate with the degree of hearing loss, nor did it affect spiral ganglion neuron integrity in the 4-week postoperative period. [ABSTRACT FROM AUTHOR]

Giant cell tumors (GCTs) and giant cell granulomas (GCGs) are giant cell-rich lesions that occur extremely rarely in the temporal bone and have similar clinical presentations. We aimed to analyze the clinical features and introduce our staging system and surgical treatment. Forty-six patients pathologically diagnosed with a giant cell lesion involving the temporal bone between October 2001 and October 2020 were reviewed retrospectively. The clinical characteristics, surgical approaches, and risk factors for recurrence were analyzed. GCTs and GCGs presented as masses centered on the temporomandibular joint with similar imaging features, including a thin, calcified shell and central scattered calcifications on a computed tomography scan. Differences were detected on magnetic resonance imaging in 29.6% (4/14) of GCG and 50% (16/32) of GCT cases; the remaining cases were not distinguishable. Based on our staging system and surgical strategy, 31.8% (7/22) of GCT and 10% (1/10) of GCG cases experienced recurrence, which compares to recurrence rates of 60% in GCT cases and 20% in GCG cases in previous studies. Specific clinical and preoperative imaging features help to make a diagnosis of temporal giant cell-rich lesions. Our staging system and surgical strategy could help surgeons tailor the surgical strategy. [ABSTRACT FROM AUTHOR]

Background: Petrosal cholesteatoma is difficult to be diagnosed before operation. MRI-DWI can make the diagnosis more objective and accurate. Objective: Analysis of incidences and clinical characteristics of petrosal cholesteatoma, and the value of MRI-DWI in this disease. Materials and methods: The clinical manifestations, such as gender, hearing loss, vertigo, tinnitus, hemifacial spasm, facial paralysis, diplopia and ear leakage, and some images, such as CT and MRI of 81 patients with petrosal cholesteatoma were collected and analyzed retrospectively. And the Sanna classification of all the cases were also been analyzed. Results: There were 76 cases of hearing loss. There were 16 patients with vertigo; 12 of headache; 23 of tinnitus; 7 of hemifacial spasm; 54 of facial paralysis; 44 of homolateral ear leakage. There were 57 cases of type Supralabyrinthine, 8 of type Infralabyrinthine, 5 of type Apical, 6 of type Infralabytinthine-apical and 5 of type Massive. There were 2 cases of inconsistency between admission diagnosis and discharge diagnosis. Conclusions: The clinical manifestations of petrosal cholesteatoma are various, and sometimes it is difficult to differentiate it from other petrosal lesions. The combining with MRI-DWI and CT examination is necessary and has an advantage. [ABSTRACT FROM AUTHOR]

Background: Multiplanar reconstruction (MPR) of High Resolution Computed Tomography (HRCT) makes it possible to achieve a clear view of inner ear structures. However, no agreement was reached on the standard measurement of inner ear. Objectives: To establish standard inner ear measurements for building criteria for cochlear structure evaluation. Material and Methods: HRCT scanning of the temporal bones of 82 cases with normal inner ear structures and 104 cases with an EVA and bilaterally sensorineural hearing loss (SNHL) was performed. Three standard cochlear plane and one vestibular plane were reconstructed by MPR. Results: Normative data of inner ear was measured and formulated. The most common malformation found in cases with EVA was incomplete partition type II (IP-II; 90.4%). The IP-II group had significantly greater modiolar height, cochlear aperture width, vestibular area, and vestibule width than did the control group. Different degrees of IP-II modiolar defects were observed using MPR. Conclusions and Significance: Standard cochlear plane can help us to evaluate the cochlear structure. The MPR standard measurement of inner ear is clinically valuable for the diagnosis and cochlear implant of EVA. [ABSTRACT FROM AUTHOR]

Background: Treacher Collins syndrome (TCS) is a clinically and genetically heterogeneous disorder of craniofacial development mainly caused by variants in TCOF1, POLR1D, and POLR1C. Objectives: This study examined the causative genes of five TCS cases. Materials and Methods: In this study, two familial cases and three sporadic cases clinically diagonsed with TCS are described. Mutational analysis in probands was performed by targeted next-generation sequencing (NGS). Mutations identified by NGS were further confirmed by Sanger sequencing or multiplex ligation-dependent probe amplification (MLPA). Results: A novel gross deletion (exons 9–13), a novel small deletion (c.381_382delAG), and two known deletions (c.4131_4135delAAAAG and c.2394_2395delAG) within TCOF1 as well as a known mutation (c.91C > T) in POLR1D were identified. These five cases exhibited high inter- and intra-familial phenotypic heterogeneity. Conclusion: This is the first report of Chinese TCS cases caused by a gross deletion within TCOF1 and mutations in POLR1D. In addition to expanding the spectrum of TCS-associated mutation in the Chinese population, our findings present the diversity of its clinical presentation. It is recommended that analyses such as NGS or MLPA capable of detecting large deletions be undertaken as a part of TCS molecular diagnosis. [ABSTRACT FROM AUTHOR]

Background: Usher syndrome (USH) is an autosomal recessive disease characterized by hearing loss, vision loss, and occasionally vestibular dysfunction. Klinefelter syndrome (KS) is an X chromosome polyploidy characterized by one or more additional X chromosomes in males. To date, there has been no report of USH combined with KS. Objectives: This study examined the causative genes in three Chinese probands with congenital hearing loss. Material and methods: Targeted next-generation sequencing (NGS) was performed to identify mutations in three probands with hearing loss. Low-coverage whole-genome sequencing (WGS) analysis of aneuploidy was used to verify the chromosome aneuploidy. Results: Four novel MYO7A mutations were identified in two USH1 probands who were initially diagnosed with nonsyndromic hearing loss until the onset of vision loss. Another case was initially diagnosed with nonsyndromic hearing loss and USH2 and KS were discovered incidentally after the genetic analysis. Conclusions: Our findings expand the mutation spectrum of MYO7A. This is also the first report of concomitant USH and KS. Genetic testing can help with clinical management, particularly if an unrecognized syndromic disorder is identified before the onset of additional symptoms. A clinical genetic evaluation is recommended as part of the diagnostic work-up in congenital hearing loss. [ABSTRACT FROM AUTHOR]

Background: Safe cochlear implantation (CI) is challenging in patients with a canal wall down (CWD) mastoidectomy cavity. Objectives: We reviewed the outcomes of CI and proposed surgical management principles according to the presentation status of CWD mastoidectomy cavity. Material and methods: The cases of eight patients (nine ears) with CWD mastoidectomy cavity who underwent CI were retrospectively reviewed. The basis of the surgical decision, postoperative complications, and postimplant auditory performance were analysed. Results: In seven patients (eight ears), implantation was performed in a single stage; in six ears, the external auditory canal (EAC) was oversewn. In two patients with ossification, the electrode array was inserted into the scala tympani by drilling of the basal turn or in the second turn of the cochlea through a drill-out procedure. Seven patients had a follow-up of 12-50 months and one patient was lost to follow-up. None of the followed-up seven patients suffered complications. Conclusions: CI is safe and effective in patients with profound hearing loss after radical mastoidectomy. In patients with CWD mastoidectomy cavity, CI does not cause a higher rate of postoperative complications relative to standard CI procedures. The outcome is excellent and comparable to that in the general CI population. [ABSTRACT FROM AUTHOR]

Conclusions:Modified Friedman stage can be used to predict glossopharyngeal obstruction better than before in patients with obstructive sleep apnea (OSA). Objective:To evaluate the diagnostic value of modified Friedman stage in predicting glossopharyngeal obstruction in patients with OSA. Methods:Eighty-five OSA patients with Friedman stage III were divided into IIIa group and IIIb group based on an imaginary line drawn in the horizontal and middle position of the soft palate. Polysomnography (PSG) was performed after nasopharyngeal tube (NPT) insertion (NPT-PSG) to diagnose glossopharyngeal obstruction. Apnea-hypopnea index (AHI) determined by NPT-PSG (NPT-AHI) and glossopharyngeal obstruction result determined by NPT-PSG (NPT-PSG result) were compared between the two groups. Results:There were significant differences in NPT-AHI (p < 0.01) and NPT-PSG result (p < 0.01) between the two groups. [ABSTRACT FROM PUBLISHER]

Conclusions: The mCI surgical technique led to reduced impedance and minimized disturbance of the microenvironment inside the cochlea. Atraumatic surgical techniques and inflammation-reduction strategies may preserve the cochlear architecture and prevent fibrotic development.Objectives: To assess the advantages of a modified minimal access technique in cochlear implantation as well as to investigate the effects of intra-operative application of inflammation reduction strategies on the intra-cochlear impedance.Methods: One hundred patients received a 31.5 mm long Med-El standard electrode array fully inserted into the cochlea and did not have surgical complications post-operation. Patients were divided into two groups according to the surgical technique that was used for implantation: 50 were in the modified minimal access cochlear implant (mCI) surgery group and 50 were in the traditional CI surgery group. Intra-cochlear impedance values were measured at initial activation (4 weeks post-operatively). Electrode impedance values were compared between the surgery groups.Results: Electrode impedance values were significantly lower in the mCI group than in the CI surgery group at initial activation (5.01 kOhm vs 6.10 kOhm, respectively,F = 13.761,p = 0.000). The differences between the two groups were most prominent for the electrodes located at the basal region of the cochlea. [ABSTRACT FROM PUBLISHER]

Conclusion: Our data indicate that the mitochondrial 12S rRNA gene, and particularly the A827G mutation, may be associated with susceptibility to age-related hearing loss. Objective: Hearing loss associated with aging is common among elderly persons. In all genetic backgrounds, mitochondrial DNA (mtDNA) mutations may be one of the most important factors contributing to aging and age-related hearing loss. The mitochondrial 12S rRNA is a hot spot for deafness-associated mutations in Chinese populations. The purpose of the present study was to elucidate the relationship of 12S rRNA gene polymorphisms and age-related hearing loss. Methods: The 12S rRNA gene polymorphisms were detected by direct sequencing. Statistical analyses were performed to assess the associations between age-related hearing loss and 12S rRNA gene variants. Results: We report here a systematic mutational screening of the mitochondrial 12S rRNA gene in 662 elderly subjects from the general population with various hearing threshold levels (211 controls and 451 age-related hearing loss subjects). Mutational screening of the mitochondrial 12S rRNA gene identified 55 nucleotide changes, including 4 mutations localized at highly conserved sites and 51 known variants. Of the known deafness-associated mutations in the mitochondrial 12S rRNA gene, the incidence of the A1555G mutation was 0.15%, A827G was 4.38%, T1095C was 0.45%, and T1005C was 3.78%. The incidence of the other known variants was 0.15-99.85%. We found statistically significant differences in the proportions of subjects with the A827G mutation among the various age-related hearing loss groups and normal controls. [ABSTRACT FROM AUTHOR]

Conclusions: p.R143Q mutation in GJB2 can cause mild to profound bilateral sensorineural hearing impairment. Although not common in Chinese patients with hearing loss, it is important to identify the specific phenotype and genotype correlations of the dominant mutation in GJB2. Objective: Mutations in the GJB2 gene are the most common cause of nonsyndromic autosomal recessive sensorineural hearing loss. A few mutations in GJB2 have also been reported to cause dominant nonsyndromic or syndromic hearing loss. However, dominant mutation in GJB2 is not common in Chinese populations. Methods: Three patients with hearing impairment from Chinese families are reported here. Temporal CT scan, complete physical (including skin and hair) and otoscopic examinations, and an audiological study, including tympanometry, auditory brainstem response (ABR), auditory steady-state response (ASSR), and 40 Hz auditory event-related potential (40 Hz-AERP), were carried out. The two exons of GJB2, the coding exons of S LC26A4, and mitochondrial 12S rRNA were sequenced. Results: Sequencing of GJB2 in two patients showed a heterozygous c.428G>A (p.R143Q) mutation, and the third patient was identified with c.299delAT and c.428G>A compound heterozygous mutation. Sequence analysis of the coding exons of S LC26A4 and mitochondrial 12S rRNA was performed but no sequence aberration or deletion was found. [ABSTRACT FROM AUTHOR]

Aberrant internal carotid artery (ICA) in the middle ear is a rare, dangerous vascular anomaly and conservative follow-up was usually adopted in most reported cases. Here we report the case of an 8-year-old girl with symptoms of objective pulsatile tinnitus and conductive hearing loss in the right ear. Otoscopic examination, computed tomography, and conventional angiography were performed. An aberrant ICA combined with a 'third mobile window' was suspected preoperatively and confirmed at exploratory surgery of the middle ear. The aberrant ICA was treated, and the pulsatile tinnitus disappeared and hearing recovered after the surgery. This case suggests that surgery is practical to relieve troublesome tinnitus and hearing loss in appropriate cases with aberrant ICA. [ABSTRACT FROM AUTHOR]

Conclusions: Intraoperative computed tomography (iCT)-guided cochlear implantation is practical and effective for correct electrode placement in the cochlea of patients with congenital inner ear and/or complex middle ear malformation. Objectives: The operation in patients with inner ear and/or complex middle ear malformation including abnormal facial nerve course is difficult. This study evaluated the efficacy of cochlear implantation under the guidance of iCT to insure correct electrode placement. Methods: This was a prospective interventional case series. Ten patients with severe to profound sensorineural hearing loss due to ear malformations were enrolled, and iCT was used to confirm the right placement of electrodes. Results: Intraoperative CT was performed three times in one patient, twice in two, and once in the others. Interruption of the surgical process for each iCT until resumption of surgery was 9.64 ± 0.63 min. iCT revealed incorrectly positioned cochlear implants in two patients, which were immediately corrected. There were no reoperations due to misplacement of electrodes. iCT helped locate the cochlea in the middle ear of one patient with an abnormal facial nerve course. The overall intervention rate based on iCT findings was 30%. Level of evidence: level 4. [ABSTRACT FROM AUTHOR]

Conclusion: Real-time quantitative polymerase chain reaction (qPCR) with a TaqMan minor groove binding (MGB) probe is useful for large-scale screening for the C1494T mutation. The mitochondrial DNA(mtDNA) C1494T mutation has a low carrier frequency in Chinese patients with nonsyndromic hearing loss. Objective: To develop a simple, rapid, and reliable real-time qPCR assay based on TaqMan technology using a new MGB probe for detecting the mtDNA C1494T mutation directly, and to investigate the carrier frequency in nonsyndromic deaf Chinese subjects. Methods: A TaqMan-MGB probe was constructed. Peripheral blood samples were collected from 3133 nonsyndromic deaf patients and genomic DNA was extracted. A real-time qPCR using MGB probes (wild-type) in a single tube was used to detect the mtDNA C1494T mutation. The results were then compared to the DNA sequence of the PCR products. Results: A total of 13 of 3133 (0.4%) Chinese nonsyndromic hearing loss patients were C1494T-positive. The results of the TaqMan-MGB probe method were consistent with those of sequencing. [ABSTRACT FROM AUTHOR]

The objective of this study was to understand the clinical characteristics of endolymphatic sac tumor and to optimize its diagnosis and treatment. We carried out a retrospective review of 11 patients diagnosed as having endolymphatic sac tumor based on operative findings and pathological features, and their clinical manifestations, differential diagnosis, and surgical approaches are discussed in detail. The lesions of 10 cases were completely surgically resected, two cases via the mastoid approach, 8 cases via the oto-cervical or cranio-oto-cervical combined approach. In one case the tumor was partially removed and the patient received adjuvant radiotherapy. In operation, four cases had facial-hypoglossal neural anastomosis, two cases had great auricular nerve graft, and in four cases the facial nerve integrity remained. Survival follow-up data range from 14 months to 10 years. We conclude that endolymphatic sac tumor is very rare and easily misdiagnosed. Reasonable surgical treatment can provide a good prognosis. [ABSTRACT FROM AUTHOR]

Conclusions. Improved appearance and hearing and increased efficiency are achievable for congenital microbia with defects of external auditory meatus (EAM) and middle ear. First the site of the external auditory meatus (EAM) orifice must be located according to the results of the temporal CT scan, then the auricle can be reconstructed employing the three-stage method. At the third stage, the EAM and middle ear can be reconstructed at the same time. Objective. To select the best approach for reconstruction of congenital microtia with defects of the EAM and middle ear. Patients and methods. This study analyzed 498 cases (528 ears) of auricle reconstruction by the three-stage method and 77 cases (91 ears operation/120 ears) of EAM and middle ear reconstruction. Results. For auricular reconstructions, the effects of reconstructed auricles were classified into four grades according to their structure verisimilitude and the bilateral symmetry. The majority of patients/families were satisfied. For 52 ears with normal movement of stapes, reconstructions of EAM and middle ear improved hearing by 15-50 dB, but long-term improvement was not ideal. In bilateral patients, 20 of 24 ears with reconstructed EAMs exhibited relapse of stenosis or atresia. For patients whose EAMs were reconstructed first, scar developed around the orifice and affected the skin flap and later auricle reconstruction, while reconstructing the auricle first sometimes resulted in the location of the EAM orifice deviating from an ideal position. [ABSTRACT FROM AUTHOR]