Investigation of clinical features and detection of 79 known deafness genes in a large Chinese family with dominant non-syndromic hearing loss / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To investigate the clinical and genetic characteristics of a large family with late-onset, progressive autosomal dominant non-syndromic hearing loss.</p><p><b>METHODS</b>Collections of detail history hereditary features, physical and audiological examination were performed. After mutation screening of GJB2, SLC26A4, MTRNR1 (12SrRNA) genes by Sanger sequencing, the proband was investigated by targeted next-generation sequencing of 79 deafness genes.</p><p><b>RESULTS</b>This family included seven generations and 73 members. Eleven persons with hearing loss and 11 normal-hearing persons participated in this study. All affected members but one exhibited late-onset, progressive non-syndromic sensorineural hearing loss; the ages of onset were between 9 and 30 years. Mutation screening by sanger-sequencing and targeted next-generation sequencing excluded the possibility of pathogenic mutations within known deafness gene.</p><p><b>CONCLUSIONS</b>A Chinese family with late-onset progressive non-syndromic sensorineural hearing loss was investigated clinically and genetically. By candidate gene approach and targeted next-generation sequencing, this family was preliminary proved to be caused by unknown deafness gene.</p>

Virtual endoscopy evaluation of congenital aural atresia / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To value the virtual endoscopic visualization for preoperative assessment of congenital aural atresia.@*METHOD@#Twenty patients with congenital aural atresia underwent a high-resolution CT of the temporal bone with VE, 8 patients subsequently underwent congenital aural atresiaplasty. CT examinations of the temporal bone were carried out using spiral equipment and endoscopic 3D processing was carried out on a separate workstation equipped with a flying through program.@*RESULT@#VE is valuable for the evaluation of stapes, malleus-incus complex, facial nerve (only the tympanic portion), incus-stapes joint, round window niche, middle er space, the VE assessment matches the operation exploration perfectly, coincidence rates were 87. 5%, 100%, 100%,75%, 100% and 100% respectively.@*CONCLUSION@#This image processing method can be used pre-operatively for assessment, the individual planning, and simulation.