BACKGROUNDMyopathies with rimmed vacuoles are a heterogeneous group of muscle disorders with progressive muscle weakness and varied clinical manifestations but similar features in muscle biopsies. Here, we describe a novel autosomal dominant myopathy with rimmed vacuoles in a large family with 11 patients of three generations affected.

METHODSA clinical study including family history, obstetric, pediatric, and development history was recorded. Clinical examinations including physical examination, electromyography (EMG), serum creatine kinase (CK), bone X-rays, and brain magnetic resonance imaging (MRI) were performed in this family. Open muscle biopsies were performed on the proband and his mother. To find the causative gene, the whole-exome sequencing was carried out.

RESULTSDisease onset was from adolescence to adulthood, but the affected patients of the third generation presented an earlier onset and more severe clinical manifestations than the older generations. Clinical features were characterized as dysarthria, dysphagia, external ophthalmoplegia, limb weakness, hypophrenia, deafness, and impaired vision. However, not every patient manifested all symptoms. Serum CK was mildly elevated and EMG indicated a myopathic pattern. Brain MRI showed cerebellum and brain stem mildly atrophy. Rimmed vacuoles and inclusion bodies were observed in muscle biopsy. The whole-exome sequencing was performed, but the causative gene has not been found.

CONCLUSIONSWe reported a novel autosomal dominant myopathy with rimmed vacuoles characterized by dysarthria, dysphagia, external ophthalmoplegia, limb weakness, hypophrenia, deafness, and impaired vision, but the causative gene has not been found and needs further study.

Adolescent ; Adult ; Child ; Deafness ; diagnosis ; physiopathology ; Dysarthria ; diagnosis ; physiopathology ; Electromyography ; Female ; Humans ; Male ; Muscle Weakness ; diagnosis ; physiopathology ; Muscle, Skeletal ; pathology ; physiopathology ; Muscular Diseases ; diagnosis ; physiopathology ; Muscular Dystrophy, Oculopharyngeal ; diagnosis ; physiopathology ; Pedigree ; Vacuoles ; pathology ; Vision Disorders ; diagnosis ; physiopathology ; Young Adult

OBJECTIVE: To analyze the abnormal conditions of the affected ear and the contralateral ear of patients with unilateral Meniere's disease and the prevalence of bilateral abnormalities among these unilateral Meniere disease population, providing reference for the clinical treatment strategies for Meniére disease. METHOD: A retrospective analysis of 106 Meni6re disease cases was performed, the abnormal incidence of the affected ears, the contralateral ears and the bilateral abnormalities were calculated, and the disease characteristics were analyzed. RESULT: The bilateral ears abnormal incidence of unilateral Meniére disease was 35. 85% (38/106); the cochlear symptoms of the contralateral ears often occurred 2. 25 years later of the symptoms of Meni6re disease; contralateral cochlear symptoms included at least two symptoms of tinnitus, deafness and ear fullness; 39. 47%(15/38) patients with bilateral abnormalities would appear binaural hearing impairment. CONCLUSION This study showed that about one-third of unilateral Meniére diseases have binaural symptoms, among which about one-third would occur bilateral hearing loss. Therefore, it is necessary to consider the course of disease and the symptoms of the contralateral ear before taking damage or destructive method for treating Meniére's disease clinically.
Cochlea ; physiopathology ; Deafness ; Ear ; abnormalities ; Hearing Loss, Bilateral ; epidemiology ; Humans ; Incidence ; Meniere Disease ; epidemiology ; Prevalence ; Retrospective Studies ; Tinnitus

OBJECTIVE: To evaluate the electrophysiological characteristics of electrically evoked auditory brainstem responses (EABR) and its application in cochlear implantation, especially in evaluating acoustic nerve survival. METHOD: An auditory evoked potential instrument was used to record responses and Cochlear Nucleus 24CA implants were used to generate electrical stimulation. We measured EABR in 23 patients with cochlear implants and compared EABR with behavioral measures and neural response telemetry (NRT). RESULT: EABR III-V waveforms were recognized in all of the 23 patients. The characteristics and origins of EABR waveforms were similar to those of ABR. The average EABR threshold was (172.61 +/- 14.61) CL. At 20 CL above threshold, the average latencies of Wave III, V were (2.93 +/- 0.18)ms, (4.80 +/- 0.28)ms which were 1-2 ms shorter than ABR latencies. But III-V intervals remained at (1.86 +/- 0.18)ms. EABR thresholds were strongly correlated with behavioral performance and NRT thresholds, while EABR input-output function is correlated with behavioral dynamic range (DR). CONCLUSION EABR is such an effective method to objectively evaluate the function of auditory pathway which can estimate residual spiral ganglion cell count. This is consistent with the foreign study leading to the conclusion that DR reflects spiral ganglion cell survival.
Auditory Threshold ; Child ; Child, Preschool ; Cochlear Implantation ; Cochlear Nerve ; physiopathology ; Deafness ; physiopathology ; surgery ; Evoked Potentials, Auditory, Brain Stem ; physiology ; Female ; Humans ; Infant ; Male

OBJECTIVE: To compare the effect of rehabilitation of prelingual deaf children who used a cochlear implant (CI) in one ear and a hearing aids in the opposite ear while the hearing level of the opposite ears are different. Hearing ability, language ability and learning ability was included in the content. The aim of this research is to investigate better style of rehabilitation, and to offer the best help to the prelingual deaf children. METHOD: Accord ing to the hearing level of the ear opposite to the one wearing a cochlear implant and whether the opposite ear wear a hearing aid or not, 30 prelingual deaf children were divided into three groups, including cochlear implant with opposite severe hearing loss and hearing aid ear (CI+SHA), cochlear implant with opposite profound hearing loss and hearing aid ear (CI+PHA), cochlear implant only (CI). The effect of rehabilitation was assessed in six different times (3,6,9,12,15 and 18 months after the cochlear implants and hearing aids began to work). RESULT: The longer time the rehabilitation spends, the better the hearing ability,language ability and the learning ability were. The hearing ability of CI+SHA was better than those of CI+PHA (P<0.05) and CI (P<0.05). The language ability and learning ability of CI-SHA was nearly equal to those of the other two groups. CONCLUSION The prelingual deaf children should take much more time on rehabilitation. The effect of rehabilitation for prelingual deaf children who used cochlear implant in one ear and hearing aid in the other depend on the residual hearing level of the other ear. If a prelingual deaf children still has any residual hearing level in the ear opposite to the cochlear implant ear, it is better for him/her to wear a hearing aid in the ear.
Child ; Child, Preschool ; Cochlear Implantation ; Cochlear Implants ; Deafness ; physiopathology ; rehabilitation ; Female ; Hearing Aids ; Humans ; Male ; Persons With Hearing Impairments ; rehabilitation ; Sound Localization ; Speech Perception ; Treatment Outcome

OBJECTIVE: To seek a convenient and effective method through subjective psychophysical measurements and CAP/SIR assessment. To compare the discrimination of rehabilitation between post-lingual and pre-lingual deafened patients. METHOD: Thirty-one post-lingual cochlear implantees and 59 pre-lingual cochlear implantees, the warble tone and CAP/SIR were assessed. The discrimination of threshold levels, comfortable levels and dynamic range between post-lingual and pre-lingual deafened patients in same electrodes were compared. RESULT: There was no statistic difference in warble tone, T-levels, C-levels and dynamic range in same electrodes implant after 6 months implant (P>0.05). The score of CAP and SIR in post-lingual deafened patients were more prominent. CONCLUSION CAP and SIR is a kind of convenient and effective method to assess the ability of aural and oral. There was no discrimination in warble tone, T-levels, C-levels and dynamic range in same electrodes implant, but the ability of aural and oral in post-lingual deafened patients were more prominent.
Adolescent ; Adult ; Auditory Threshold ; Child ; Child, Preschool ; Cochlear Implantation ; methods ; Cochlear Implants ; Deafness ; etiology ; physiopathology ; therapy ; Humans ; Infant ; Middle Aged ; Speech Perception ; Treatment Outcome ; Young Adult

OBJECTIVETo analyze the clinical features of audiological and vestibular function in a Chinese family with late onset autosomal dominant nonsyndromic sensorineural hearing loss.

METHODSComprehensive audiological and vestibular evaluation including pure tone audiometry, auditory brainstem response (ABR), electrocochleogram (EcochG), oculomotor testing, caloric tests, rotational testing, computerized dynamic posturography and vestibular evoked myogenic potentials (VEMP) were conducted to identify the hearing and vestibular impairment.

RESULTSAll affected family members shared sensorineural hearing loss with full penetrance starting between the second and fifth decade of life as a high frequency loss which progresses to a severe to profound loss at the sixth to seventh decade. The extensive vestibular evaluation indicated that all affected members performed normally in computerized dynamic posturography and caloric testing. Impairment of the saccular otolith in all of six affected members was suggested by results of the VEMP test. The velocity step test generated abnormal time constants and sinusoidal oscillation test generated abnormal gains and phase in affected members indicated that horizontal canal vestibular hyporeflexia in history. All affected subjects examined in this family showed completely normal ocular motor responses in oculomotor testing, including smooth pursuit, optokinetic nystagmus, gaze and saccade.

CONCLUSIONSThe predominant feature of the Chinese DFNA9 family was that all the affected subjects harboring COCH mutation in the vWFA2 domain didn't suffer the vestibular symptoms during their life time and comprehensive vestibular assessment revealed only subtle vestibular hypofunction in affected members of this family. There is a genotype-phenotype correlation in DFNA9.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Asian Continental Ancestry Group ; genetics ; Child ; Deafness ; congenital ; genetics ; physiopathology ; Extracellular Matrix Proteins ; Female ; Genes, Homeobox ; Hearing ; genetics ; Heterozygote ; Humans ; Male ; Middle Aged ; Mutation ; Pedigree ; Proteins ; genetics ; Vestibular Evoked Myogenic Potentials ; Young Adult

OBJECTIVETo conduct audiological assessment in patients with tympanosclerosis.

METHODSA retrospective review was conducted in 79 patients with tympanosclerosis (involving 79 ears) with complete records, including 30 patients (30 ears) with fixed Malleus-incus complex, 29 (29 ears) with fixed stapes, and 20 (20 ears) with fixations of both the stapes footplate and the Malleus-incus complex. Audiometry was performed for all the patients one or two days before operation, and the audiological features of the patients were compared between the 3 groups.

RESULTSMost of the patients (65.8%) suffered conductive hearing loss, 32.9% had mixed deafness, and one patient had sensorineural hearing loss. No statistically significant differences was noted in the speech frequency (0.5, 1, and 2 kHz) air conduction pure tone average (PTA) or the air-bone gap (ABG) in the 3 groups (P<0.05).

CONCLUSIONMost of the patients with tympanosclerosis suffer conductive hearing loss, and the severity of hearing loss is not associated with the site of tympanosclerosis.

Adolescent ; Adult ; Audiometry ; methods ; Deafness ; physiopathology ; Ear Diseases ; pathology ; physiopathology ; Female ; Hearing Loss, Conductive ; physiopathology ; Hearing Loss, Sensorineural ; physiopathology ; Humans ; Male ; Middle Aged ; Retrospective Studies ; Sclerosis ; Tympanic Membrane ; pathology ; physiopathology ; Young Adult

OBJECTIVE: To analyze the changing features of mandarin-tone recognition in lower prelingual children with cochlear implant after mapping. METHOD: Twenty-nine children with CI were registered in this test, who were divided into two groups according to the age received the operation. They were group A whose ages were 3 to 4.5 years old, and group B whose ages were 5.0 to 6.5 years old. The time after first mapping was between 1.5 and -2.0 years. The test only included close-set phonetic recognition which was mainly used to evaluate Mandarin-tone recognition. The Phonetic Recognition List was used as the test material. RESULT: The results showed that the percentages of correct recognition were same-single-syllable tones average (63.00+/-16.75)%; bi-syllable tones average (75. 60+/-11.18)%; single-character words average (72.38+/-11.39)% in A group children and respectively, (49.46+/-13.91)%; (64.71+/-9.64)%; (55.71+/-8.59)% in B group children. The recognition scores exceeded chance level in all results and they were better in A group. Statistical analysis(t test) showed significant difference between two groups. CONCLUSION The age is one of the most influence factors about Mandarin-tone recognition after implanting in pre-lingual children with CI. It is another important factor to influence studying Chinese after operation in the children.
Age Factors ; Asian Continental Ancestry Group ; Child ; Child, Preschool ; Cochlear Implantation ; Cochlear Implants ; Deafness ; physiopathology ; Female ; Humans ; Language ; Male ; Speech Discrimination Tests

OBJECTIVE: L-type voltage-gated calcium channel subunit alpha1D-/- mice (homozygous mutant, knockout), alpha1D+/- (heterozygous) and alpha1D+/+ (wild-type) have played role in L-type voltage-gated calcium channel alpha1D subunit in auditory function of inner ear as well as sinoatrial node function of the mice. METHOD: Hearing threshold and endocochlear potential (EP) were measured in the alpha1D knockout mice, heterozygous mice and wild-type mice by auditory brainstem response(ABR), EP recordings and Electrocardiograph (ECG) respectively. To assessment of the vestibular function of the mice, the ability of Balancing was performed by a swim test and a horizontal cylinder test. RESULT: The auditory function of alD+/+ mice were normal, the mean value for ABR thresholds in response to click sound stimulus was (34.8 +/- 5.7) dB SPL,EP was (105.3 +/- 3.1) mV. The mean value for ABR thresholds in response to click sound stimulus was elevated in alpha1D+/- mice was (54.4 +/- 12.4) dB SPL, relative to that observed in alpha1D+/+ mice significantly increased (P < 0.05); EP of alpha1D+/- mice was about (75.8 +/- 9.9) mV. alpha1D-/- mice were completely deaf, the ABR wave form was not observed for even 100 dB SPL sound stimuli used and EP was still remain in (48.6 +/- 19.3) mV. alpha1D knockout mice were deaf and demonstrated no vestibular defect. alpha1D+/- and alpha1D-/- mice show significant sinus bradycardia with significant prolongation of the RR interval (146 +/- 1.4 and 244 +/- 2.9, respectively) comparing to the alpha1D+/+ wild-type mice (117 +/- 0.4) in the same littermates. In addition, the homozygous alpha1D-/- show a significant prolongation of the PR interval (53 +/- 0.5) compared to that of the a1D+/+ wild-type mice (38 +/- 0.3). CONCLUSION L-type voltage-gated calcium channel alpha1D subunit plays a critical role in calcium homeostasis in the inner ear. Mice lacking of alpha1D calcium channel gene would lead to influence auditory function and sinoatrial node dysfunction subsequently.
Animals ; Auditory Threshold ; Calcium Channels, L-Type ; genetics ; Deafness ; genetics ; physiopathology ; Electrocardiography ; Evoked Potentials, Auditory, Brain Stem ; Mice ; Mice, Knockout ; Sinoatrial Node ; physiopathology

OBJECTIVE: To investigate incidents and clinical features of auditory neuropathy in Nanjing deaf school students. METHOD: Three hundred and fifty-eight deaf students in the school accepted the first examination including otoscopic examination, tympanometry and transiently evoked otoacoustic emissions (TEOAE) screening. Detailed audiological and vestibular evaluations including pure-tone audiometry, immittance audiometry and acoustic reflex measures, transiently evoked otoacoustic emissions (TEOAE), distortion product otoacoustic emissions (DPOAE), auditory brain stem response (ABR), electronystagmography (ENG) and vestibular evoked myogenic potential (VEMP) were given to whom had positive TEOAE screening. RESULT: Three hundred and twenty-three students entered the program of screening for auditory neuropathy. One student had positive TEOAE in single ear while the other two had positive TEOAE in both ears. In the screening stage,there were strong evidences in these three students with auditory neuropathy in the detailed audiological procedures. CONCLUSION Auditory neuropathy, which can also be found in deaf schools, is not as rare as we thought before. Early identification and intervention may help those children to avoid entering the deaf school and to return to normal society.
Adolescent ; Adult ; Audiometry, Pure-Tone ; Child ; China ; epidemiology ; Cochlear Microphonic Potentials ; Deafness ; epidemiology ; physiopathology ; Evoked Potentials, Auditory, Brain Stem ; Female ; Hearing Loss, Central ; epidemiology ; physiopathology ; Humans ; Male ; Otoacoustic Emissions, Spontaneous ; Students ; Young Adult