Hearing Loss, Central ; genetics ; Humans ; Vestibulocochlear Nerve Diseases

OBJECTIVETo investigate the clinical and genetic characteristics of three Chinese Meniere's disease (MD) families and decipher the mechanism of MD further.

METHODSPersonal 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.

RESULTSEight 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.

CONCLUSIONMeniere's disease has some genetic and familial aggregation in Chinese population, but its complex genetic pathogenic mechanisms need further study.

Adult ; Deafness ; Family Health ; Female ; Hearing Loss, Sensorineural ; etiology ; physiopathology ; Humans ; Inheritance Patterns ; Male ; Meniere Disease ; complications ; genetics ; physiopathology ; Middle Aged ; Migraine Disorders ; etiology ; Tinnitus ; etiology ; Vestibular Function Tests ; Vestibule, Labyrinth ; physiopathology

OBJECTIVETo analyze the clinical characteristics, prognosis and therapeutic effects of sudden sensorineural hearing loss (SSHL) patients associated with vertigo, and to investigate the strategy of diagnosis and treatment.

METHODSWe retrospectively analyzed the clinical characteristics of 240 patients diagnosed as SSHL with vertigo, who were treated in the Chinese PLA General Hospital from July 2008 to August 2012. Various factors affecting the therapeutic effects were analyzed, such as audiological features, vestibular function tests, genders, audiograms, lasting before seeing a doctor, courses of vertigo and vascular factors.

RESULTAmong the contemporaneous SSHL patients (873 cases), the cases with vertigo accounted for 27.49% (240/873). Among the 240 patients with vertigo, the cases with different hearing impaired degree of mild, moderate, severe and profound were 30, 13, 28 and 34, respectively, primarily by the profound cases. Detailed vestibular function tests were performed in 97 patients, with 54 cases having unilateral vestibular disfunction and 43 patients having normal vestibular function, among which 23 cases were diagnosed as benign paroxymal positional vertigo (BBPV). The relationship between vestibular function and different hearing impaired degrees or various audiogram types had no statistically significant difference. 219 cases had detailed records of the onset time of cochlear and vestibular symptoms, including 122 patients with cochlear symptoms and dizziness occurring simultaneously. After standardized drug treatment, the total effective rate was 46.67%, with recovery in 17 cases, excellent in 34 cases, better in 61 cases and poor in 128 cases, respectively. Statistical analysis showed that different genders, audiogram types, vertigo courses of time, the results of vestibular function and neck vascular ultrasounds were not related to the curative effects, while, the treatment time after onset was significantly associated with treatment effects.

CONCLUSIONSSSHL with vertigo has a high incidence, primarily single side affected, with relatively severe hearing impairment, and total deafness and downslope hearing curve mainly. Vestibular function can be normal or low in SSHL patients with vertigo, with a higher incidence of BPPV. Vestibular and cochlear symptoms occur simultaneously in more than half of the patients. The detection rate of vestibular dysfunction gradually increased, as the degree of hearing loss increased, without statistical significance although. The therapeutic effects of sudden hearing loss with vertigo cases have no relationship with dizziness duration or vestibular function, while the disease course plays an important role in treatment.

Benign Paroxysmal Positional Vertigo ; complications ; Cochlea ; physiopathology ; Deafness ; Dizziness ; Hearing Loss, Sensorineural ; Hearing Loss, Sudden ; complications ; Hearing Tests ; Humans ; Prognosis ; Retrospective Studies ; Vestibular Function Tests ; Vestibule, Labyrinth ; physiopathology

OBJECTIVEThrough a prospective cohort study, to assess the clinical efficacy of methylprednisolone (MP) and dexamethasone (DXM) in treatment of all-frequency sudden hearing loss.

METHODSA total of 76 cases of all-frequency sudden hearing loss were included in this study and divided into two groups. The MP group (n = 40) was treated with MP 40 mg qd, for 5 days, combined with conventional treatment. The DXM group (n = 36) was treated with DXM 10 mg qd, for 5 days, combined with conventional treatment. The total period of treatment was 14 days.

RESULTSAfter the treatment for 14 days, in the MP group,17 cases were cured (42.5%), 7 cases were markedly improved (17.5%), 9 cases were effective (22.5%), and 7 cases were invalid (17.5%), the total effective rate was 82.5%. As for the patients in the DXM group, 13 cases were cured (36.1%), 6 cases were markedly improved (16.7%), 8 cases were effective (24.2%), and 9 cases were invalid (25%), the total effective rate was 75.0%. The pure tone audiometry in all-frequency was improved (31.5 ± 17.8) dB in the MP group, and (33.1 ± 24.2) dB in the DXM group. The speech recognition rate was improved (41.7 ± 29.8) %, and (42.0 ± 39.1) % in the DXM group. There were no significant differences between two groups.

CONCLUSIONThere is no significant difference of therapeutic efficacy between the low-dose MP group and High-dose DXM group.

Audiometry, Pure-Tone ; Dexamethasone ; therapeutic use ; Glucocorticoids ; therapeutic use ; Hearing Loss, Sudden ; drug therapy ; Humans ; Methylprednisolone ; therapeutic use ; Prospective Studies ; Speech Perception