Objective: Pulsatile tinnitus usually originates from vascular structures, causing an arterial or venous bruit. We report a new cause of pulsatile tinnitus: a focal defect of the mastoid bone shell in the region of the transverse-sigmoid junction, with a normal transverse-sigmoid sinus.Participants and intervention: Three patients complained of unilateral, pulsatile tinnitus present for many years. They were identified as having a focal defect of the mastoid bone shell in the region of the transverse-sigmoid junction. The patients underwent transmastoid reconstruction of the mastoid bone shell overlying the transverse-sigmoid sinus.Results: All three patients reported immediate resolution of their symptoms, and were asymptomatic at final follow up.Conclusion: A focal defect of the mastoid bone shell overlying the transverse-sigmoid sinus, with no abnormality of the sinus itself, may be a new cause of pulsatile tinnitus. Surgical reconstruction of the mastoid bone shell overlying the transverse-sigmoid sinus can provide lasting symptom relief for patients with pulsatile tinnitus and computed tomographic evidence of the defect.

Aims: We attempted to identify the genetic epidemiology of hereditary hearing loss among the Chinese Han population using next-generation sequencing (NGS). Materials and Methods: The entire length of the genes GJB2, SLC26A4, and GJB3, as well as exons of 57 additional candidate genes were sequenced from 116 individuals suffering from hearing loss. Results: Thirty potentially causative mutations from these 60 genes were identified as the likely etiologies of hearing loss in 67 of the cases. In our study, SLC26A4 and GJB2 were the most frequently affected genes among the Chinese Han population with hearing loss. Collectively, they account for 52.8% of the cases, followed by MTRNR1, PCDH15, and TECTA. These data also illustrate that NGS can be used to identify rare alleles responsible for hereditary hearing loss: 22 of the 30 (73.3%) genes identified with mutations are rarely mutated in hereditary hearing loss and only account for 21.5% (42/195) of the total mutation frequency, explaining no more than 2% for each gene. These rarely mutated genes would be missed by conventional diagnostic sequencing approaches. Conclusions: NGS can be used effectively to identify both the common and rare genes causing hereditary hearing loss.

To analyze the clinical audiological characteristics of X-Linked Alport syndrome (XLAS) in males and their relationships with genotypes. The clinical data of 87 male patients with AS were reviewed. Hearing levels were evaluated using pure tone audiometry (PTA) testing, acoustic immittance, and otoacoustic emissions (OAE) testing. The genotypes of COL4A5 and the pathogenic variants were analyzed. The relationships between auditory phenotypes and genotypes were analyzed. Among the 87 patients, the number of patients with normal hearing and hearing loss were 32 and 55, respectively. In all cases, the hearing loss was characterized as bilateral symmetrical sensorineural deafness. Majority of the patients had mild-to-moderate hearing loss. Hearing loss usually started in the middle frequency range and gradually affected high frequencies, at school age and gradually increased with increasing age. However, it maintained a relatively steady level of 50–60 dB HL during the teenage years. The audiometric curves included groove-type in 51 cases (92.73%). Patients were identified to have 60 different COL4A5 pathogenic variants. Of the 49 patients who were followed-up for more than 2 years, 28 cases presented a decreasing trend in the hearing level of about 5 dB per year. The degree of hearing loss was positively correlated with gene mutation type and renal function. Hearing loss in males with XLAS is symmetrical sensorineural, and progressive with increasing age. There is a significant correlation between the degree of hearing loss and genotype, renal function, and age.

Alzheimer’s disease (AD) or vestibular dysfunction may impair visual–spatial cognitive function. Recent studies have shown that vestibular dysfunction is increasingly common in patients with AD, and patients with AD with vestibular impairment show more visual–spatial cognitive impairment. By exploring the relationship and interaction mechanism among the vestibular system, visual–spatial cognitive ability, and AD, this study aims to provide new insights for the screening, diagnosis, and rehabilitation intervention of patients with AD. In contrast, routine vestibular function tests are particularly important for understanding the vestibular function of patients with AD. The efficacy of vestibular function test as a tool for the early screening of patients with AD must also be further studied. Through the visual–spatial cognitive ability test, the “spatial impairment” subtype of patients with AD, which may be significant in caring for patients with AD to prevent loss and falls, can also be determined. Additionally, the visual–spatial cognitive ability test has great benefits in preventing and alleviating cognitive decline of patients with AD.

We report the genetic analysis of autosomal dominant, nonsyndromic, progressive sensorineural hearing loss in a Chinese family. Using whole exome sequencing, we identified a missense variant (c.130C>T, p.R44C) in the MCM2 gene, which has a pro-apoptosis effect and is involved in the initiation of eukaryotic genome replication. This missense variant is very likely to be the disease causing variant. It segregated with hearing loss in this pedigree, and was not found in the dbSNP database or databases of genomes and SNP in the Chinese population, in 76 patients with sporadic hearing loss, or in 145 normal individuals. We performed western blot and immunofluorescence to test the MCM2 protein expression in the cochlea of rats and guinea pigs, demonstrating that MCM2 was widely expressed in the cochlea and was also surprisingly expressed in the cytoplasm of terminally differentiated hair cells. We then transiently expressed the variant MCM2 cDNA in HEK293 cells, and found that these cells displayed a slight increase in apoptosis without any changes in proliferation or cell cycle, supporting the view that this variant is pathogenic. In summary, we have identified MCM2 as a novel gene responsible for nonsyndromic hearing loss of autosomal dominant inheritance in a Chinese family.