Cinical and genetic characteristics of familial Meniere's disease: three families report / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To investigate the clinical and genetic characteristics of three Chinese Meniere's disease (MD) families and decipher the mechanism of MD further.</p><p><b>METHODS</b>Personal and family medical evidence of hearing loss, vestibular symptoms, and other clinical abnormalities of the participants were identified, clinical and genetic features were analyzed. Targeted 307 genes capture and high-throughput sequencing were performed on the two ascertained members of family 1007184.</p><p><b>RESULTS</b>Eight patients from these three families showed post-lingual sensorineural hearing loss, six women and two men were involved. Age of onset in these affected members concentrated in the middle age, with the average age of 39.3 years old. Among them, patients from 1407278 were accompanied by migraine. All of the three probands presented as recurrent vertigo firstly, and then fluctuated hearing loss showed up, accompanying by tinnitus and ear fullness feeling. The hearing loss manifested as late-onset, low frequency-involved pattern, with subsequent gradual progression from moderate to severe level. Some of the patients progressed to severe level involving all frequencies at higher ages. In addition, most of the cases showed revitalization. Four cases received vestibular function tests, three of which had varying dysfunction of vestibular function, while the other one had normal vestibular function. Patients who had abnormal vestibular function showed much more severe hearing impairment. The three-generation family 1007193 had an autosomal recessive genetic characteristics, family 1007184 showed autosomal dominant inheritance of characteristics, family 1407278 were either autosomal dominant or X-linked dominant pattern. Through target genes capture high-throughput sequencing technology, we identified two candidate variants in the two members of family 1007184, named c. 2057G>A in EGFLAM and c. 1961C>T in ITGA8.</p><p><b>CONCLUSION</b>Meniere's disease has some genetic and familial aggregation in Chinese population, but its complex genetic pathogenic mechanisms need further study.</p>

Analysis of characteristics of tinnitus in patients with auditory neuropathy spectrum disorder / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To investigate the characteristics of tinnitus in patients with auditory neuropathy spec- trum disorder (ANSD).@*METHOD@#This study recruited 14 ANSD patients with tinnitus. All the ANSD patients un- derwent detailed history taking, audiological examinations and assessments of tinnitus. This study analyzed the correlation of tinnitus status and hearing loss, and discussed the effects of sex, age, and the course of disease on tinnitus in ANSD patients.@*RESULT@#(1) In the ANSD patients, tinnitus often occurred in 3 years after the onset of hearing loss; (2) Tinnitus was highly prevalent in ANSD patients, and the severity of tinnitus was mostly from mild to moderate; (3) There was no obvious correlation between the subjective grading of tinnitus and hearing loss de- gree, and the impact of curve patterns of hearing loss on the level of tinnitus need much more evidence-based proof; (4) Along with the course extension, the impact of tinnitus on the quality of life was much more obvious; (5) Some risk factors such as noise exposure could be the reasons of aggravating the degree of tinnitus.@*CONCLUSION@#Tinnitus in ANSD patients has its unique clinical features. The study of Tinnitus in ANSD patients can provide clinical basis for further research in ANSD.