Endoscopic revision surgery for ossicular chain reconstruction: intraoperative findings and functional outcomes.

Purpose: To report the intraoperative observations and hearing outcomes in patients undergoing endoscopic revision ossiculoplasty.

Methods: A retrospective cohort of patients who had undergone revision ossiculoplasty were enrolled in this study. Intraoperative findings were documented.

Report of rare and novel mutations in candidate genes in a cohort of hearing-impaired patients.

Background: Many hearing-impaired patients carry mutations in rare or novel genes undetected in regular genetic hot regions/genes screening.

Methods: We collected clinical and genetic data from subjects with hearing loss who visited our department for genetic counseling. Next-generation sequencing was conducted after 154 deafness-related genes were captured using a designed genes panels in 14 unrelated families (37 participants).

Labyrinthine lesions in presumed inner ear hemorrhage-related sudden deafness.

Purpose: Inner ear hemorrhage (IEH) is a rare cause of sudden sensorineural hearing loss (SSNHL). This study aimed to evaluate the lesional patterns in patients with presumed IEH from morphological and functional aspects.

Methods: Seventeen patients with SSNHL and presumed IEH who completed audio-vestibular tests were included.

Cochlear Implantation Outcomes in Children With Mutations-Associated Hearing Loss.

Objective: Mutations in the cadherin 23 gene () have been reported to cause cochlear damage, but few studies have investigated the auditory and speech outcome of patients after cochlear implantation. Here, we describe the genetic, auditory, and postoperative outcomes of patients with mutations who received cochlear implants.

Study Design: Retrospective case review.

[Cochleo-vestibular lesions and prognosis in patients with profound sudden sensorineural hearing loss: a comparative analysis].

To investigate the characteristics of cochleo-vestibular dysfunction in patients with profound sudden deafness, and the prognosis of inner ear hemorrhage. From January 2017 to December 2018, 92 inpatients with profound sudden sensorineural hearing loss were enrolled in the Department of Otorhinolaryngology, First Affiliated Hospital of Sun Yat-sen University. Our studied patients included 47 males and 45 females, aged 20-78 (39.

[Mouse vestibular supporting cells induce directional differentiation of human amniotic fluid stem cells into functional neurons: a pilot study].

To investigate the feasibility of inducing human amniotic fluid stem cells into functional neurons by supporting contact co-culture depended on feeder layer from mouse vestibular supporting cells. Human amniotic fluid stem cells were isolated to culture. The vestibular tissues were obtained from the newborn C57BL/6J mouse by enzymatic digestion and cell culture, the hollow spheres were selected to prepare a monolayer feeder layer.

Electrophysiologic Characteristics of Various Degrees of Selective Outer Hair Cell Loss in Rats.

Hypothesis: The characteristics of auditory brainstem response (ABR), electrocochleogram (ECochG), and distortion product otoacoustic emissions (DPOAE) of different degrees of selective outer hair cells (OHCs) loss may be helpful for clinicians to evaluate the pathogeny, diagnosis, and rehabilitation of individuals' hearing loss.

Background: How many OHCs are necessary to maintain cochlear amplifier function remains unknown. The electrophysiologic characteristics may indicate different degrees of OHCs loss.

[Clinical study of inner ear hemorrhage-associated sudden deafness and vertigo].

To analyze the clinical features and possible pathogenesis of sudden deafenss and vertigo induced by inner ear hemorrhage. Clinical data of 30 patients with inner ear hemorrhage, from the first affiliated hospital of Sun Yat-sen university during Jan 2016 to May 2017, were retrospectively analyzed. Vergito and profound deafness were seen in all patients.

Time-compression thresholds for Mandarin sentences in normal-hearing and cochlear implant listeners.

Faster speech may facilitate more efficient communication, but if speech is too fast it becomes unintelligible. The maximum speeds at which Mandarin words were intelligible in a sentence context were quantified for normal hearing (NH) and cochlear implant (CI) listeners by measuring time-compression thresholds (TCTs) in an adaptive staircase procedure. In Experiment 1, both original and CI-vocoded time-compressed speech from the MSP (Mandarin speech perception) and MHINT (Mandarin hearing in noise test) corpora was presented to 10 NH subjects over headphones.

Audiological outcomes in sudden sensorineural hearing loss with presumed inner ear hemorrhage.

Objective: To explore the hearing outcomes and prognostic factors in patients with sudden sensorineural hearing loss resulting from inner ear hemorrhage.

Methods: 42 patients (22 male and 20 female) were recruited from January 2016 to December 2017. Intravenous methylprednisolone and/or intratympanic corticosteroid were used as salvage therapy.

Targeted next generation sequencing reveals OTOF mutations in auditory neuropathy spectrum disorder.

Objective: To study the genetic etiology of auditory neuropathy spectrum disorder (ANSD) in a Chinese family and perform a literature review of OTOF mutations and cochlear implantation (CI).

Methods: Sequential targeted next generation sequencing (NGS) and CI was performed for the proband. Further, 50 DNA samples from unrelated families with nonsyndromic deafness were examined for frequency determination.

Side-related differences in sudden sensorineural hearing loss in children.

Objective: Most studies on sudden sensorineural hearing loss (SSNHL) do not differentiate the outcomes within varied affected ears in children. The present study was designed to determine the clinical differences between unilateral and bilateral SSNHL in children.

Methods: The clinical data, from a total of 101 pediatric patients with SSNHL, was retrospectively analyzed from January 2003 to December 2016.

Delayed Recovery in Pediatric Sudden Sensorineural Hearing Loss Predicted via Magnetic Resonance Imaging.

Objectives: To evaluate the potential origins via magnetic resonance imaging and the relevant hearing recovery course of pediatric sudden sensorineural hearing loss.

Methods: We retrospectively analyzed data of 25 pediatric patients from our center with sudden sensorineural hearing loss from January 2011 to December 2016. All individuals were closely followed up at baseline and 1 and 6 months.

Germinal mosaicism of PAX3 mutation caused Waardenburg syndrome type I.

Objectives: Waardenburg syndrome mutations are most often recurrent or de novo. The rate of familial recurrence is low and families with several affected children are extremely rare. In this study, we aimed to clarify the underlying hereditary cause of Waardenburg syndrome type I in two siblings in a Chinese family, with a mother affected by prelingual mild hearing loss and a father who was negative for clinical symptoms of Waardenburg syndrome and had a normal hearing threshold.

Compound heterozygous MYO7A mutations segregating Usher syndrome type 2 in a Han family.

Objective: Identification of rare deafness genes for inherited congenital sensorineural hearing impairment remains difficult, because a large variety of genes are implicated. In this study we applied targeted capture and next-generation sequencing to uncover the underlying gene in a three-generation Han family segregating recessive inherited hearing loss and retinitis pigmentosa.

Methods: After excluding mutations in common deafness genes GJB2, SLC26A4 and the mitochondrial gene, genomic DNA of the proband of a Han family was subjected to targeted next-generation sequencing.

[Clinical research of sudden sensorineural hearing loss due to inner-ear hemorrhage].

Objective: This study addresses the characters of magnetic resonance imaging (MRI) and clinical features, and curative effects in the screening of SSNHL due to inner-ear hemorrhage.

Methods: MRI and relevant audiometric test were given to 160 patients with SSNHL, who were hospitalized in the First Affiliated Hospital of Sun Yat-sen University from January 2011 to April 2013. The clinical features and curative effects of patients with high signals in the labyrinth on MRI were analyzed.

GJB2 and mitochondrial 12S rRNA susceptibility mutations in sudden deafness.

Genetic susceptibility may play an important role in the pathogenesis of sudden deafness. However, the specific genes involved are largely unknown. We sought to explore the frequency of GJB2 and mitochondrial 12S rRNA susceptibility mutations in patients with sudden deafness.

Novel mutation located in EC7 domain of protocadherin-15 uncovered by targeted massively parallel sequencing in a family segregating non-syndromic deafness DFNB23.

Objective: Hereditary hearing loss is a clinically and genetically heterogeneous disorder associated with mutations of a large number of diverse genes. In this study we applied targeted capture and massively parallel sequencing to identify the disease-causing gene of a Chinese family segregating recessive inherited deafness.

Methods: After excluding mutations in common deafness genes GJB2, SLC26A4, mitochondrial m.

Genetic counseling for a three-generation Chinese family with Waardenburg syndrome type II associated with a rare SOX10 mutation.

Objective: Waardenburg syndrome is clinically and genetically heterogeneous. The SOX10 mutation related with Waardenburg syndrome type II is rare in Chinese. This study aimed to uncover the genetic causes of Waardenburg syndrome type II in a three-generation family to improve genetic counseling.

Inner ear stem cells derived feeder layer promote directional differentiation of amniotic fluid stem cells into functional neurons.

Intact spiral ganglion neurons are required for cochlear implantation or conventional hearing amplification as an intervention for sensorineural hearing loss. Treatment strategies to replace the loss of spiral ganglion neurons are needed. Recent reports have suggested that amniotic fluid-derived stem cells are capable of differentiating into neuron-like cells in response to cytokines and are not tumorigenic.

De novo dominant mutation of SOX10 gene in a Chinese family with Waardenburg syndrome type II.

Objective: Waardenburg syndrome is a rare genetic disorder, inherited as an autosomal dominant trait. The condition is characterized by sensorineural hearing loss and pigment disturbances of the hair, skin, and iris. The de novo mutation in the SOX10 gene, responsible for Waardenburg syndrome type II, is rarely seen.

Magnetic resonance imaging-detected inner ear hemorrhage as a potential cause of sudden sensorineural hearing loss.

Purpose: The aim of this study is to assess the value of magnetic resonance imaging in identifying the etiology of sudden sensorineural hearing loss, and to correlate the high signals in the labyrinth with clinical features to identify if inner ear hemorrhage could be implicated.

Materials And Methods: In this retrospective study, inner ear magnetic resonance imaging was given to 112 patients with sudden sensorineural hearing loss in the First Affiliated Hospital of Sun Yat-sen University from 2011 to 2012. The clinical features of patients with high signals in the labyrinth on magnetic resonance imaging were analyzed.

Developing regional genetic counseling for southern Chinese with nonsyndromic hearing impairment: a unique mutational spectrum.

Background: Racial and regional factors are important for the clinical diagnosis of non-syndromic hearing impairment. Comprehensive genetic analysis of deaf patients in different regions of China must be performed to provide effective genetic counseling. To evaluate the mutational spectrum of south Chinese families, we performed genetic analysis for non-syndromic hearing impairment in this population.

Novel heterozygous mutation c.662_663insG compound with IVS7-2A>G mutation in SLC26A4 gene in a Chinese family with Pendred syndrome.

Objective: Pendred syndrome is one of the most common hereditary determined diseases in patients with syndromic sensorineural hearing impairment. Mutations in the SLC26A4 gene are a major cause of Pendred syndrome. However, Pendred syndrome is quite rare in China.

Screening of SLC26A4, FOXI1, KCNJ10, and GJB2 in bilateral deafness patients with inner ear malformation.

Objective: Bilateral nonsyndromic sensorineural hearing loss associated with inner ear malformation is closely related to genetics. SLC26A4 is considered to be the major involved gene. Recently, FOXI1 and KCNJ10 mutations have been linked to enlarged vestibular aqueducts and GJB2 mutations linked to temporal bone malformation.