[Assessment of auditory perception of children with single-sided deafness after cochlear implantation].

Unilateral deafness will lead to the decline of children's speech recognition rate, language development retardation and spatial positioning ability, which will have many adverse effects on children's life and study. Cochlear implantation can help children rebuild binaural hearing, and systematic audiological evaluation after operation is particularly important for clinicians to evaluate the hearing recovery of children. In this study, a variety of commonly used audiological evaluation, testing processes and methods after cochlear implantation in children with unilateral deafness are described in detail, and the related research status and results are summarized.

[Characteristics of air-conducted and bone-conducted vibration cervical vestibular-evoked myogenic potential in preschool children].

Objective: To investigate the characteristics of air-conducted sound cervical vestibular evoked myogenic potential （ACS-cVEMP） and bone-conducted vibration cervical vestibular evoked myogenic potential （BCV-cVEMP） in healthy preschool children, and to provide the normal reference range of VEMP for preschool children in China. Methods:Forty-four normal-hearing children （88 ears） aged 3-7 years were recruited to undergo ACS-cVEMP and BCV-cVEMP determination. These children were divided into two groups according to age: 3-4 years old group （ 17 cases, 34 ears） and 5-7 years old group （ 27 cases, 54 ears）. The response rates and waveform parameters were recorded and analyzed statistically using SPSS 18.0 software. Results:The response rates of ACS-cVEMP, BCV-cVEMP in 44 normal-hearing children （88 ears） were 96.59％（85/88） and 97.73％（86/88） respectively, and there was no significant difference between the two groups （P > 0.05）. The response rates of ACS-cVEMP in 3-4 year old group and 5-7 year old group were 94.12% （32/34） and 98.15% （53/54） respectively, and there was no significant difference between the two groups（P>0.05）; The response rates of BCV-cVEMP in 3-4 year old group and 5-7 year old group were 94.12% （32/34） and 100.00%（54/54） respectively, and there was no significant difference between the two groups （P>0.05）. Compared with the 5-7 year old group, the latency of p1 and n1 in the 3-4 year old group was shorter （P<0.05） and the amplitude was higher （P<0.05）, and there was no significant difference in other parameters （P>0.05）. There was no statistical difference in threshold, n1, p1 latency, n1-p1 wave interval, n1-p1 amplitude, and amplitude asymmetry ratio of BCV-cVEMP between the two groups （P>0.05）. Conclusion:ACS-cVEMP and BCV-cVEMP can be elicited in most preschool children, and cVEMP is a feasible method to detect vestibular function in children.

[Methods and advances in clinical application of vestibular evoked myogenic potentials in children].

Vestibular dysfunction, which may lead to delayed motor development and reduced quality of life, is an overlooked entity among children and adolescents. Vestibular evoked myogenic potential （VEMPs） is a common, safe diagnostic tool in adults for vestibular disorders. However, there is no related data for children and adolescents. We aimed to collect and assess normative VEMP data for adolescents. In this article , we analyzed the results of VEMPs in children in recent years, and summarized the common detection methods of VEMPs in children, the detection rate and variability characteristics of VEMPs in children of different ages, and the current status of clinical application of VEMPs in children.

The combined novel KCNQ1 frameshift I145Sfs*92 and nonsense W392X variants caused Jervell and Lange-Nielsen syndrome in a Chinese infant presenting with sustained foetal bradycardia.

AIMS: We report clinical and molecular analysis of an infant presenting with foetal bradycardia and clinical outcome of Jervell and Lange-Nielsen syndrome (JLNS). METHODS AND RESULTS: Clinical, electrocardiogram (ECG), and echocardiographic data were collected from members in a three-generation family. Whole exomes were amplified and sequenced for proband. The identified variants were verified in the remaining members. The pathogenicity of candidate variants was predicted using multiple software programmes. A 28-year-old non-consanguineous Chinese woman at 23 weeks' gestation presenting with sustained foetal bradycardia of 100 b.p.m. Immunological disorders and infection were excluded. The infant was delivered at 37 weeks' gestation with 2700-g birthweight. QTc was prolonged in both ECG and Holter recording. Hearing tests confirmed bilateral sensorineural hearing loss. Genetic testing demonstrated that the infant carried a novel frameshift c.431delC (p.I145Sfs*92) and a novel nonsense c.1175G>A (p.W392X) compound variants of KCNQ1 inherited from mother and father, respectively, in autosomal recessive inheritance. Only relative II-5 carrying heterozygous KCNQ1-I145Sfs*92 variant had prolonged QTc, while the other carriers did not have prolonged QT, suggesting an autosomal dominant inheritance of LQT1 phenotype with incomplete penetrance in the family. CONCLUSION: We report the novel frameshift KCNQ1-I145Sfs*92 and nonsense KCNQ1-W392X compound variants in autosomal recessive inheritance that caused JLNS presenting as sustained foetal bradycardia for the first time. Meanwhile, KCNQ1-I145Sfs*92 heterozygous variant demonstrated LQT1 phenotype in autosomal dominant inheritance with incomplete penetrance.

[Theory of local inflammatory infiltration and irritation in the pathogenesis of acquired cholesteatoma].

OBJECTIVE: To explore the deep pathogenesis of acquired cholesteatoma. METHODS: The temporal bone slides of 12 ears with retraction pocket were histopathologically studied under microscope, especially focusing on the location of retraction pocket and inflammatory pathology in the local middle ear cavity next to retraction pockets. The temporal bone slides of 11 ears with acquired cholesteatoma were histopathologically observed and 33 cases diagnosed as acquired cholesteatoma were clinically observed observed in the local middle ear cavity next to the part without retraction pocket of eardrum. The results of pathological observation of the temporal bone slides with acquired cholesteatoma and clinical observation during operation for acquired cholesteatoma show that cholesteatoma invade mainly and occupied the ossicular chain eara of the middle ear cleft. CONCLUSION: In the pathological process of otitis media, the intractable pathological changes in the ossicular chain area can inward adhere posterosuperior quadrant or pars flaccida of the eardrum to form retraction pocket and permanently infiltrate the external squamous epithelial layer of retraction pocket to excessively proliferate and keratinize, leading to formation of acquired cholesteatoma.