The Association Between Tinnitus Sensation-Level Loudness and Sleep Quality in Patients With Subjective Consecutive Tinnitus: A Mediation Analysis.

PURPOSE: So far, there have been no in-depth analyses of the connection between tinnitus sensation-level loudness and sleep quality. Accordingly, the present study was formulated as a mediation analysis focused on exploring this relationship. METHOD: Overall, 1,255 adults with consecutive subjective tinnitus who had sought outpatient treatment were enrolled in the present study. RESULTS: Direct effects of tinnitus sensation-level loudness on sleep quality were not statistically significant (95% confidence intervals [CI] include zero), as measured by the point estimate, -0.016. However, the 95% CI for indirect effects did not include zero when assessing the Self-Rating Anxiety Scale (SAS) scores, the Self-Rating Depression Scale (SDS) scores, the visual analogue scale (VAS) scores, and self-reported tinnitus annoyance. CONCLUSIONS: These results suggest that tinnitus sensation-level loudness does not directly have an effect on sleep quality. However, it indirectly impacts sleep quality, mediated by SAS scores, SDS scores, the impact of tinnitus on life measured using the VAS, and self-reported tinnitus annoyance. As such, alleviating anxiety and depression in patients with tinnitus may result in reductions in their insomnia even if there is no reduction in tinnitus loudness. Importantly, otolaryngologists and other clinicians treating tinnitus should refer patients with tinnitus suffering from insomnia with comorbid depression or anxiety for appropriate psychological and/or psychiatric treatment.

[Clinical characteristics and prognosis of two anastomosis techniques in the treatment of facial nerve defects].

Objective:To investigate the characteristics and prognosis of two anastomosis techniques in repairing facial nerve defects. Methods:A retrospective analysis was conducted on 30 patients who underwent facial nerve anastomosis（direct or rerouting） for facial nerve defects in our department from January 2012 to December 2021. Among them, 21 were male and 9 were female, with an average age of（37.53±11.33） years, all with unilateral onset. Preoperative House-Brackmann（H-B） facial nerve function grades were Ⅳ in 2 cases, Ⅴ in 9 cases, and Ⅵin 19 cases. The duration of facial paralysis before surgery was within 6 months in 21 cases, 6-12 months in 6 cases, and over 1 year in 3 cases. The causes of facial paralysis included 14 cases of cholesteatoma, 6 cases of facial neurioma, 6 cases of trauma, and 4 cases of middle ear surgery injury. Surgical approaches included 9 cases of the middle cranial fossa approach, 8 cases of labyrinthine-otic approach, 7 cases of mastoid-epitympanum approach, and 6 cases of retroauricular lateral neck approach. Results:All patients were followed up for more than 2 years. The direct anastomosis was performed in 10 cases: 6 cases with defects located in the extratemporal segment and 4 cases in the tympanic segment. Rerouting anastomosis was performed in 20 cases: 11 cases with defects located in the labyrinthine-geniculate ganglion, 4 cases from the internal auditory canal to the geniculate ganglion, 3 cases in the internal auditory canal, and 2 cases in the horizontal-pyramid segment. Postoperative H-B facial nerve grades were Ⅱ in 2 cases, Ⅲ in 20 cases, and Ⅳ in 8 cases, with 73.3%（22/30） of patients achieving H-B grade Ⅲ or better. Conclusion:Both direct and rerouting anastomosis techniques can effectively repair facial nerve defects, with no significant difference in efficacy between the two techniques. Most patients can achieve H-B grade Ⅲ or better facial nerve function recovery. Preoperative facial nerve function and duration of facial paralysis are the main prognostic factors affecting the outcome of facial nerve anastomosis.

MPZL2-a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population.

BACKGROUND: Mutations in MPZL2, the characteristic genetic etiology of autosomal recessive deafness loci 111 (DFNB111), cause non-syndromic and moderate sensorineural hearing loss. METHODS: In this study, we analyzed the phenotype and genotype of eight pedigrees consisting of 10 hearing loss patients with bi-allelic pathogenic or likely pathogenic variants in MPZL2. These patients were identified from a 3272 Chinese patient cohort who underwent genetic testing. RESULTS: Apart from symmetrical and moderate sensorineural hearing loss, the MPZL2-related phenotype was characterized by progressive hearing loss with variation in the onset age (congenital defect to onset at the young adult stage). We determined that in the Chinese population, the genetic load of MPZL2 defects was 0.24% (8/3272) in patients diagnosed with hearing loss and 7.02% (8/114) in patients diagnosed with hereditary moderate sensorineural hearing loss caused by STRC, OTOA, OTOG, OTOGL, TECTA, MPZL2 and others. Three known MPZL2 variants (c.220C > T (p.Gln74*), c.68delC (p.Pro23Leufs*2), c.463delG (p.Ala155Leufs*10)) and a novel start loss variant (c.3G > T (p.Met1?)) were identified. MPZL2 c.220C > T was identified as the hotspot variant in the Chinese population and even in East Asia compared with c.72delA (p.Ile24Metfs*22) in European and West Asia through allele frequency. CONCLUSIONS: We concluded that apart from moderate HL, progressive HL is another character of MPZL2-related HL. No specified variant was verified for the progression of HL, the penetrance and expressivity cannot be determined yet. A novel MPZL2 variant at the start codon was identified, enriching the variant spectrum of MPZL2. The hotspot variants of MPZL2 vary in different ethnicities. This study provides valuable data for the diagnosis, prognosis evaluation and genetic counseling of patients with moderate sensorineural hearing loss related to MPZL2.

Outcomes of cochlear implantation in 75 patients with auditory neuropathy.

Background: Cochlear implantation (CI) outcomes in patients with auditory neuropathy (AN) are variable, which hampers patients' decisions on CI. Objective: This study aims to assess the outcomes of CI in individuals diagnosed with AN and to examine the various factors that may influence the effectiveness of this intervention. Methods: A total of 75 patients diagnosed with AN were included in the study. The hearing threshold, the score of categories of auditory performance (CAP), speech intelligibility rating (SIR), and speech audiometry were tested. Genetic testing was conducted by medical exome sequencing in 46 patients. Results: After CI, the average aided hearing threshold for patients with prelingual and post-lingual onset was 38.25 ± 6.63 dB and 32.58 ± 9.26 dB, respectively; CAP score improved to 5.52 ± 1.64 (p < 0.001) and 6.00 ± 0.96 (p < 0.001), respectively; SIR score increased to 3.57 ± 1.22 (p < 0.001) and 4.15 ± 0.95 (p < 0.001), respectively. Maximum speech recognition ranged from 58 to 93% for prelingual onset patients and 43 to 98% for those with post-lingual onset. Speech outcomes of CI in cases with cochlear nerve (CN) deficiency were significantly poorer (p = 0.008). Molecular etiologies, including TWIST1, ACTG1, m.A7445G, and a copy-number variant (CNV) carrying ACTB, were related to AN here. Conclusion: CI is a viable therapy option for patients with AN; CN deficiency might impact outcomes of CI.

Surgical management and the prognosis of iatrogenic facial nerve injury in middle ear surgery: a 20-year experience.

BACKGROUND: Iatrogenic facial nerve injury is one of the severest complications of middle ear surgery, this study aims to evaluate surgical management and prognosis in the era of improved surgical instruments. METHODS: Patients suffered from facial nerve paralysis after middle ear surgery between January 2000 and December 2019 were retrospectively collected. Demographic characters, primary disease and surgery, details of revision surgery were analyzed. RESULTS: Forty-five patients were collected, of whom 8 were injured at our center and 37 were transferred. For 8 patients injured at our center, seven (87.5%) ranked House-Brackmann (H-B) grade V and one (12.5%) ranked H-B VI before revision surgery; postoperatively, two (25.0%) patients recovered to H-B grade I, four (50.0%) recovered to H-B II, and the other two (25.0%) recovered to H-B III. For 37 patients transferred, thirteen (35.1%) ranked H-B grade V and 24 (64.9%) ranked H-B VI preoperatively, final postoperative grade ranked from H-B grade I to grade V, with H-B I 6 (16.2%) cases, H-B II 6 (16.2%) cases, H-B III 18 (48.6%) cases, H-B IV 5 (13.5%) cases and H-B V 2 (5.4%) cases. The most vulnerable site was tympanic segment (5, 62.5% and 27, 73.0% respectively). Twenty-one (46.7%) patients suffered from mild injury and 24 (53.3%) suffered from partial or complete nerve transection. For surgical management, twenty-one (46.7%) patients received decompression, nineteen (42.2%) received graft and 5 (11.1%) received anastomosis. Those decompressed within 2 months after paralysis had higher possibility of H-B grade I or II recovery (P = 0.026), those received graft within 6 months were more likely to get H-B grade III recovery (P = 0.041), and for patients underwent anastomosis within 6 months, all recovered to H-B grade III. CONCLUSIONS: Tympanic segment is the vulnerable site. If facial nerve paralysis happens, high-resolution computed tomography could help identify the injured site. Timely treatment is important, decompression within 2 months after paralysis, graft and anastomosis within 6 months lead to better recovery.

Surgical management of endolymphatic sac tumor: classification, outcomes and strategy. A single institution's experience.

PURPOSE: To review the resections of endolymphatic sac tumor (ELST) and describe our experience in the surgical management of ELST. METHODS: Retrospective investigation of consecutive patients who underwent resection of ELSTs at our hospital between 1999 and 2019. The symptoms, diagnosis, surgical findings, and outcomes were analyzed to develop a tumor staging system and corresponding surgical strategy. RESULTS: Retrospective review revealed the surgical treatment of 22 ELSTs. Based on intraoperative findings of tumor extent and size, ELSTs were classified into two types. Type-I (n = 6) referred to the small tumors that were locally confined with limited invasion of semicircular canals and dura; type-II (n = 16) referred to the large tumors that presented extensive erosion of at least one anatomic structure apart from the semicircular canals and the dura around endolymphatic sac. In this case series, Type-I ELST is amenable to resection through a transmastoidal approach, and subtotal petrosectomy is appropriate for the resection of type-II ELST. Sensorineural hearing loss (SNHL) is the most commonly preoperative symptom in both two types of cases. Five type-II ELSTs experienced recurrence and underwent reoperation, whereas all type-I ELSTs did not. CONCLUSION: ELST usually results in SNHL (95%) at the time of diagnosis. The surgical strategy and prognosis of ELST resections are different between type-I and type-II: type-I ELST is amenable to transmastoidal approach with the preservation of facial nerve, whereas type-II ELST increase the surgical difficulty and the risk of recurrence, and subtotal petrosectomy is the basic requirement for the resection of type-II ELST.

Extended high-frequency audiometric analyses of tinnitus patients exhibiting normal hearing on conventional pure-tone audiometry.

BACKGROUND: While hearing loss is the greatest risk factor associated with developing tinnitus, some tinnitus patients exhibit no hearing loss on conventional pure-tone audiometry (PTA). OBJECTIVES: This study was developed to assess whether tinnitus patients with normal hearing as measured via conventional PTA would exhibit differences from normal controls upon extended high-frequency (EHF) audiometric evaluation. METHODS: In total, 102 tinnitus patients were separated into unilateral and bilateral tinnitus groups. Age- and sex-matched controls without tinnitus were enrolled. RESULTS: No significant differences were observed when comparing EHF audiometry results in the 9-14 kHz range between controls and tinnitus patients, with only left-sided tinnitus ears exhibiting higher hearing thresholds than contralateral ears at 9, 10, and 14 kHz. Relative to normal controls, the hearing thresholds in the 2-8 kHz range for tinnitus ears were significantly increased. CONCLUSIONS AND SIGNIFICANCE: Relative to controls, tinnitus patients with normal hearing did not exhibit any significant hearing loss in the EHF range. Unexpectedly, tinnitus patients with normal hearing exhibited significant hidden hearing loss in the conventional frequency range rather than in the EHF range. For patients with normal hearing, it appears to be unnecessary to conduct EHF examinations to detect hearing loss in the EHF range.

Analysis of Related Factors Affecting Facial Nerve Function after Acoustic Neuroma Surgery.

Objective: To investigate the factors affecting facial nerve function after acoustic neuroma surgery and to provide theoretical reference for clinicians to preserve facial nerve function better after surgery. Methods: A retrospective cohort study was conducted to analyze the correlation between postoperative facial nerve function and surgical approach, age, sex, tumor size and adhesion degree of facial nerve in 152 patients with acoustic neuroma. Results: In the choice of surgical approach, there was no significant difference in the anatomy of the complete facial nerve in labyrinth path, retrosigmoid sinus path, and middle cranial fossa path. There was no statistically significant difference between the middle cranial fossa path and the retrosigmoid sinus path in facial nerve function preservation 7 days after surgery. The difference between middle cranial fossa path and labyrinthine path was statistically significant (P < 0.01). There were statistically significant differences between labyrinth path and retrosigmoid sinus path (P < 0.05). Logistic multivariate regression analysis showed that the operative approach and the degree of adhesion between tumor and facial nerve were the risk factors affecting functional preservation of facial nerve 7 days after surgery. Age and the degree of adhesion between tumor and facial nerve were the risk factors for functional preservation of facial nerve 1 year after operation. Conclusion: The facial nerve function injury in patients with acoustic neuroma may be related to the choice of surgical approach, the adhesion degree of tumor and facial nerve, and their age. Clinicians need to comprehensively evaluate the risk factors before surgery, so as to achieve individualized treatment to protect the integrity of postoperative facial nerve function of patients.

Imaging features, staging system, and surgical management of giant cell lesions of the temporal bone.

BACKGROUND: 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. OBJECTIVES: We aimed to analyze the clinical features and introduce our staging system and surgical treatment. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.

Evolutionary origin of pathogenic GJB2 alleles in China.

The frequency of the pathogenic allele of the autosomal recessive deafness gene GJB2 varies among different populations in the world, and accumulates to a sufficiently high frequency in certain population. The purpose of this study is to investigate the origin and evolution of GJB2 pathogenic alleles in Chinese deaf patients. Children with non-syndromic hearing loss, and their parents, from 295 families were recruited. Customized capture probes targeted at 943 single nucleotide polymorphisms (SNPs) related to GJB2 gene were designed for sequencing of genomic DNA in blood samples. Haplotypes carrying pathogenic allele were analyzed through linkage disequilibrium block building, ancestry tracing, and extended haplotype heterozygosity calculation. Two pathogenic GJB2 alleles, c.235delC (18.41%) and c.109G > A (15.57%), were observed in 867 donors. For c.235delC allele, three different core haplotypes with one major haplotype (97.32%) were found, and their core SNPs were 100% conserved. For c.109G > A allele, six different haplotypes with one major haplotype (93.28%) were found and the major c.109G > A allele evolved from a specific ancestral haplotype. Geographical origins of donors carrying GJB2 c.109G > A and c.235delC core haplotypes centered between Qinghai and Neimenggu. GJB2 c.235delC has long-range linkage disequilibrium. No positive selection signature was found for GJB2 c.235delC or c.109G > A in the studied population. In conclusion, we discovered a single origin of GJB2 c.235delC allele and multiple independent origins of GJB2 c.109G > A allele. Alternative to positive selection or multiple independent recurrent mutation event, population bottleneck effect might account for the observed high population frequency of these pathogenic alleles.

Morphology changes in the cochlea of impulse noise-induced hidden hearing loss.

BACKGROUND: This study was focused on impulse noise induces hidden hearing loss. OBJECTIVES: This study was designed to determine the morphology changes of noise-induced hidden hearing loss (NIHHL). METHOD: Fifteen guinea pigs were divided into three groups: noise-induced hidden hearing loss (NIHHL) group, noise-induced hearing loss (NIHL) group, and normal control group. For the NIHHL group, guinea pigs were exposed to 15 times of impulse noise with peak intensity of 163 dB SPL at one time. For the NIHL group, animals were exposed to two rounds of 100 times impulse noise, and the time interval is 24 h. Auditory brain response (ABR) was tested before, immediately, 24 h, one week, and one month after noise exposure to evaluate cochlear physiology changes. One month after noise exposure, all guinea pigs in three groups were sacrificed, and basement membranes were carefully dissected immediately after ABR tests. The cochlea samples were observed by transmission electron microscopy (TEM) to find out the morphology changes. RESULT: The ABR results showed that 15 times of impulse noise exposure could cause NIHHL in guinea pigs and 200 times could cause completely hearing loss. Impulse noise exposure could cause a dramatic increase of mitochondria in the inner hair cell. The structures of ribbon synapse and heminode were also obviously impaired compared to the normal group. The nerve fiber and myelin sheath remained intact after impulse noise exposure. CONCLUSION: This research revealed that impulse noise could cause hidden hearing loss, and the changes in inner hair cells, ribbon synapse, and heminode all played a vital role in the pathogenesis of hidden hearing loss.

Identification of a novel DFNA5 mutation, IVS7-2 a > G, in a Chinese family with non-syndromic sensorineural hearing loss.

BACKGROUND: To date, seven DFNA5 mutations have been reported in families with autosomal dominant non-syndromic hearing loss worldwide. All the mutations cause exon 8 skipping at the mRNA level, that led to the protein truncated and the protein could exert a gain of ototoxic function. OBJECTIVE: In this study, we found an autosomal-dominant non-syndromic hearing loss Chinese pedigree which spanned four generations and comprised 43 members. We want to identify the causative gene and mutation. METHODS: Application of microsatellite markers on DFNA 23 loci preliminary screening of 25 genes, data were analyzed by linkage analysis. RESULTS: We mapped the locus to the region between D7S629 and D7S516 (two-point lod-score of 5.39) with the application of 8 microsatellite markers. By direct sequencing of candidate genes in mapping region, we identified a novel missense mutation ivs7-2 A > G in DFNA5 gene, which was faithfully cosegregated with hearing loss in the family. CONCLUSION AND SIGNIFICANCE: The missense mutation in intron 7 of DFNA5 causes skipping of exon 8, resulting in premature termination of the open reading frame. This type of mutation has repeatedly confirmed that it provides more evidence for the previous view and provides a more solid foundation for future research.

Petrous bone cholesteatoma: our experience of 20 years and management of two giant cases affecting rhinopharynx.

PURPOSE: To demonstrate our experience in the treatment of petrous bone cholesteatoma (PBC). METHODS: Data of PBC patients in our hospital from January 2000 to December 2019 were collected. Surgical approaches and facial function were mainly discussed and compared with the literature. The management of 2 giant PBC cases affecting rhinopharynx has been demonstrated. RESULTS: The supralabyrinthine type was the most frequent type followed by the massive type. There were 5 cases with cholesteatoma extending into the clivus (2 cases), sphenoid (1 case) and rhinopharynx (2 cases). The translabyrinthine approach (40%) was our most frequently used approach followed by the middle fossa approach (36%) and the transmastoid approach (11%). There were 10 cases managed with the assistance of endoscope, including 3 cases with cholesteatoma extending into clivus, sphenoid and rhinopharynx separately. Obliteration of the cavity was performed in 70.3% (135/192) cases; 3 of them recurred. For the 2 giant PBC cases affecting rhinopharynx, traditional microscopic surgery assisted with transnasal endoscope was performed. The reduced exposure was beneficial for postoperative recovery, and the approach in the nasal cavity provided a permanent drainage for postoperative examination. CONCLUSION: Otologic endoscope combined with traditional microscopic surgery could reduce the exposure in surgery. For extremely extended cases of PBC, supplementary transnasal endoscopic approach deserves to be considered for the traditional temporal bone approach.

Vestibular Schwannomas in Young Patients: A 12-Year Experience in a Single Center.

OBJECTIVE: This study evaluated the characteristics of vestibular schwannomas (VS) in young patients, including clinical features, treatment, prognosis, and histopathologic characteristics. METHODS: We retrospectively reviewed medical records and follow-up data for 36 pediatric patients <21 years of age who were surgically treated for VS in the Chinese PLA General Hospital between 2008 and 2019. RESULTS: Mean patient age was 17.4 years. Mean tumor size was 2.8 cm. Hearing loss (n = 32, 88.9%) and tinnitus (n = 20, 55.6%) were the most common symptoms. Ten patients (27.8%) had impaired facial nerve function after surgery. Gross total resection (GTR) was achieved in 26 cases (72.2%). The median tumor Ki-67 level was 5%. Tumor size was related to incomplete tumor resection (odds ratio, 0.2; 95% confidence interval, 0.1-0.9) and postoperative facial nerve dysfunction (odds ratio, 24.9; 95% confidence interval, 1.2-539.1). Tumor size was nonlinearly associated with prognosis and 2.2 cm corresponded to the inflection point at which the probability of tumor remnant and postoperative facial nerve dysfunction significantly increased. The GTR and low Ki-67 groups achieved better 3-year tumor control rate. Histopathologic findings confirmed the presence of cellular schwannoma subtype in young patients. CONCLUSIONS: Tumor size is an important factor affecting the prognosis of VS in young patients. For large VS, surgical treatment should be the first choice, rather than wait-and-scan. VS in young patients shows high tumor proliferation and a tendency to relapse. The cellular schwannoma subtype requires special attention; an accurate histopathologic diagnosis is necessary for young patients with VS, and a closer follow-up strategy should be adopted for cellular VS.

Treatment of venous pulsatile tinnitus by compression reconstruction of sigmoid sinus.

BACKGROUND: Surgical intervention can effectively treat venous pulsatile tinnitus. AIM/OBJECTIVES: To assess the effectiveness of treating of venous pulsatile tinnitus (VPT) by compression reconstruction of sigmoid sinus (SSCR) under local anesthesia. MATERIAL AND METHODS: This study retrospectively reviewed 41 patients with VPT in our otolaryngology department between September 2009 and February 2019. Under local anesthesia, all patients were received SSCR. Pre- and postoperative Tinnitus Handicap Inventory (THI) degree and scores were used to evaluate the efficacy of SSCR for VPT. RESULTS: Of the 41 patients, 36 patients were followed up from 9 months to 8 years and 5 patients were lost to follow-up and were excluded from the data analysis. SSCR was clinically effective in 86% of patients with complete disappearance in 18 patients (50%), partial remission in 10 patients (28%), slight alleviation in 3 patients (8%), and no change in 5 patients (14%). The pre- and postoperative THI degree and scores were significantly different (p < .001 and p = .002, respectively). CONCLUSIONS AND SIGNIFICANCE: SSCR under local anesthesia is effective for treating patients with VPT. It is critical to perform a rigorous pre-operative clinical and radiological evaluation to reduce intra- and postoperative complications.

Induction and Regulation of the Immunoproteasome Subunit ß5i (PSMB8) in Laryngeal and Hypopharyngeal Carcinoma Cells.

BACKGROUND The ubiquitin-proteasome pathway (UPP) is closely associated with the occurrence and progression of cancer, and the 5i immunoproteasome subunit is an important antitumor target in UPP. This study aimed to characterize the regulation of the immunoproteasome subunit ß5i (PSMB8) in JHU-011 laryngeal carcinoma cells and FaDu hypopharyngeal carcinoma cells to explore a new target for the treatment of laryngeal and hypopharyngeal carcinomas. MATERIAL AND METHODS JHU-011 and FaDu cells were used as effector cells in this study. By means of 6°Co γ-irradiation, the construction of stable cell lines of the silenced proto-oncogene c-Abl, and the addition of exogenous tyrosine kinase inhibitor (TKI) and activator, the transcription and protein expression levels of PSMB8 and its alternatively spliced isoforms in both cell lines were detected by real-time fluorescence quantitative polymerase chain reaction (RT-PCR) and Western blot. RESULTS Ionizing radiation upregulated the transcription level of the alternatively spliced isoform of PSMB8, E2, in both cell lines, thereby upregulating the mRNA and protein levels of PSMB8. The silencing of the proto-oncogene c-Abl and the activation and inhibition of its kinetic kinase product can affect the transcription and protein levels of PSMB8. CONCLUSIONS Ionizing radiation can significantly upregulate the mRNA and protein levels of PSMB8, which happens through the upregulation of its splicing isoform E2. The proto-oncogene c-Abl and its kinetic kinase protein product can regulate the transcription and protein expression levels of PSMB8 and its alternatively spliced isoforms.

Clinical characteristics of petrosal cholesteatoma and value of MRI-DWI in the diagnosis.

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.

Identification of a novel TCOF1 mutation in a Chinese family with Treacher Collins syndrome.

Treacher Collins syndrome (TCS) is a severe congenital disorder characterized by craniofacial malformations, including cleft palate, hypoplasia of the facial bones, downward slanting of the palpebral fissures and malformation of the external and middle ear. Worldwide, 90% of cases of TCS are caused by mutations in the TCOF1 gene, which are inherited via an autosomal dominant pattern, while <2% cases are caused by POLR1D and POLR1C genes, which are inherited via autosomal dominant and autosomal recessive patterns, respectively. The present study describes the clinical findings and molecular diagnostics of a Chinese family with TCS. TCS was diagnosed in a 9-year-old female Chinese proband and her mother, while no craniofacial abnormalities were apparent in other family members. Exons of the TCOF1 gene and segregation analysis were used to examine causative mutations using the Sanger sequencing approach. A single novel heterozygous mutation in TCOF1 exon 3 splicing site c.165-1G>A was detected in the proband. Furthermore, the same mutation was identified in her mother, but not in other family members. These results suggest that c.165-1G>A is a novel heterozygous mutation of the TCOF1 gene that caused the development of TCS in the proband and her mother. The TCOF1 mutation that was identified in proband was inherited from her mother and so can be considered as de novo mutation.

Unilateral congenital malformations of middle ear with intact external ear: a review of 64 cases.

OBJECTIVE: To describe the operative findings and surgical results of unilateral congenital middle ear malformations with intact external ear. METHODS: A retrospective review was performed on 64 patients with unilateral congenital middle ear malformations and intact external ear who underwent exploratory tympanotomy from 2011 to 2016. Demographic data, clinical data, high-resolution computed tomography findings, audiometric data and intraoperative findings were collected. Audiological evaluations before and 6 months after surgery were analyzed in 47 patients. RESULTS: The most common malformation were mobile stapes with missing incus long process and stapes suprastructure. The air conduction pure tone average was 58.9 ± 10.5 dB HL (range 34.4-78.1 dB HL) preoperatively and 28.8 ± 10.6 dB HL (range 9.4-55.6 dB HL) postoperatively (P = 0.000). Twenty-five cases (53.2%) acquired an air conduction hearing gain exceeding 30 dB. Mean air-bone gap (ABG) was 44.5 ± 9.4 dB (range 22.5-66.4 dB HL) before surgery and 15.6 ± 9.3 dB (range 0-35.6 dB) after surgery (P = 0.000) for an average gain of 28.8 ± 11.5 dB. Thirty-four cases (72.3%) showed a postoperative ABG of less than 20 dB, 15 had an ABG within 10 dB, and 4 had 0 dB ABG after operation. No significant difference was observed for air conduction hearing gain regarding age (P = 0.261) or types of malformations (mobile stapes footplate with or without a suprastructure anomaly, P = 0.058). CONCLUSION: Unilateral congenital middle ear malformations with intact external ear can be complex and diverse. Functional ossiculoplasty for patients with unilateral congenital middle ear malformations can achieve good hearing outcomes.