Cases Of Deafness Research Articles

Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination

Deafness, dystonia, and central hypomyelination (DDCH) syndrome (OMIM #300475) is a rare X-linked genetic disorder characterized by developmental delays, deafness, central hypomyelination, and dystonia. We report the first Korean familial case involving twin boy and girl carrying a novel pathogenic BCAP31 variant which was inherited from their mother. The male proband, born prematurely with very low birth weight (VLBW), exhibited severe global developmental delay, microcephaly, failure to thrive, dystonia, seizures, sensorineural hearing loss (SNHL) requiring cochlear implantation, and mild facial dysmorphism. A brain MRI revealed white matter atrophy, thinning of the corpus callosum, and delayed myelination. The twin sister presented with mild developmental delays and bilateral SNHL but did not experience seizures or dystonia. Their mother also had bilateral SNHL. Whole genome sequencing identified a hemizygous pathogenic variant, c.247C>T (p.Gln83Ter), in the BCAP31 in the proband. The variant was also found in his mother and twin sister, who exhibited less severe symptoms. Early genetic evaluation via next-generation sequencing is crucial for timely diagnosis and intervention, particularly in VLBW infants with genetic disorders. This report expands the understanding of genotype-phenotype correlations in DDCH syndrome and highlights the variable phenotypes in manifesting females.

Analysis of clinical manifestations and imaging features of facial nerve schwannomas

Objective:To explore the clinical manifestations and imaging characteristics, and to clarify the imaging value in the diagnosis of facial nerve schwannomas. Methods:Retrospectively analyze the data of 23 patients with facial nerve schwannomas confirmed by surgery and pathology in the Department of Otorhinolaryngology of the First Affiliated Hospital of the Air Force Military Medical University from September 2020 to September 2022, including 8 males and 15 females, aged 18-66 years old. Summarize and analyze their clinical symptoms, specialized examinations, and imaging findings. Results:The clinical manifestations were facial nerve paralysis in 15 cases（2 cases of HB Ⅳ, 6 cases of HB Ⅴ, 7 cases of HB Ⅵ）, hearing loss in 14 cases（5 cases of conductive deafness, 2 cases of mixed deafness, and 7 cases of severe sensorineural hearing loss）, 8 cases tinnitus, 7 cases ear pain, 4 cases dizziness, 4 cases headache, 2 cases ear pus, and parotid gland tumors in 6 cases presenting as local masses. Endoscopic examination revealed 8 cases of external ear canal tumors and 3 cases of intratympanic tumors. Combining temporal bone HRCT, MRI enhanced scanning, and CPR imaging techniques, 1 case involved the internal auditory canal segment, 2 cases in the tympanic segment, 6 cases in the parotid gland area. A total of 14 cases involved two or more segments of the internal auditory canal segment, the labyrinthine segment, geniculate ganglion, the tympanic segment, and the mastoid segment. When the tumors were large, adjacent structures were involved. It was found that 8 cases invaded the external auditory canal and tympanic cavity, ossicles were displaced or bony destruction; 3 cases invaded the jugular foramen area, and 1 case grew to the middle cranial fossa region with temporal lobe brain parenchymal compression. Conclusion:The clinical manifestations of facial nerve schwannomas are diverse. The combination of various imaging techniques will be conducive to topical and qualitative diagnosis and provide an important basis for treatment strategies.

Economic evaluation of newborn deafness gene screening as a public health intervention in China: a modelling study

BackgroundWhile global newborn hearing screening programmes (NHSP) are far from the optimal level, the combined hearing and genetic screening has emerged as an innovative approach of early healthcare interventions. There...

Deletion of Luzp2 Does Not Cause Hearing Loss in Mice.

Deafness is the prevailing sensory impairment among humans, impacting every aspect of one's existence. Half of congenital deafness cases are attributed to genetic factors. Studies have shown that Luzp2 is expressed in hair cells (HCs) and supporting cells of the inner ear, but its specific role in hearing remains unclear. To determine the importance of Luzp2 in auditory function, we generated mice deficient in Luzp2. Our results revealed that Luzp2 has predominant expression within the HCs and pillar cells. However, the loss of Luzp2 did not result in any changes in auditory threshold. HCs or synapse number and HC stereocilia morphology in Luzp2 knockout mice did not show any notable distinctions. This was the first study of the role of Luzp2 in hearing in mice, and our results provide important guidance for the screening of deafness genes.

Pediatric hearing screening: Exploring the need for a three-tier screening strategy

Abstract Pediatric hearing impairment is a global health problem and has implications on the individual as well as the society. Undiagnosed hearing impairment has immense economic burden on the family, society, and nation. The challenge lies in diagnosing pediatric hearing impairment early so that effective treatment or rehabilitation can be initiated. Even though universal newborn hearing screening has been implemented in many countries, yet the coverage of the program has not been uniform throughout. Further, many cases of childhood deafness are known to manifest later in the school going age. As such, reliance on hearing screening in the newborn period alone will lead to many undiagnosed cases of hearing impairment. Therefore, a viewpoint is provided here for a three-tiered screening strategy so that maximum cases of hearing impairment can be diagnosed and effective treatment can be initiated, thereby reducing the global economic burden of pediatric hearing impairment.

Short-term observation of electrical acoustic stimulation in patients with low frequency residual hearing after cochlear implant

Objective: To analyze the effects of electrical acoustic stimulation (EAS) on speech and tone recognition as well as music perception in children with low-frequency residual hearing (LFRH) after cochlear implant (CI). Methods: A total of twelve Mandarin patients with LFRH who underwent unilateral CI from January 2017 to October 2020 were recruited, including 8 males and 4 females. There were 5 cases of pre-lingual deafness and 7 cases of post-lingual deafness. The median age at implantation was 12 years old (3-62 years). All patients had residual hearing (RH) before surgery, wore hearing aid (HA) timely, had an effective rehabilitation and the duration of use of electrical stimulation was 37.0±16.2 months. On the implanted side, the thresholds of 125 Hz and 250 Hz were less than and equal to 80 dB HL after implantation. A two-month follow-up clinical study was conducted with the EAS devices. The EAS effects were evaluated before, immediately after and 2 months after upgrade, including speech recognition rate, tone recognition and music tests. SPSS 23.0 software was used for statistical analysis. Results: A total of ten patients completed a two-month clinical follow-up and efficiency evaluation. Compared to the electrical stimulation, the recognition rate of spondee word significantly decreased after the immediate use of EAS (71.7±4.3 vs 79.6±3.1, P=0.018). Compared to the electrical stimulation as well as immediate use of EAS, the results of sentence in noise, tone in noise, and SRT of sentence in noise were all significantly improved at 2 months after use of EAS (P<0.05). The pitch discrimination was significantly improved at 2 months after the use of EAS compared with that before the use of EAS (P=0.042). Compared with before (P=0.021) and immediately (P=0.017) use of EAS, the ability of rhythm resolution was significantly improved. There were no significant differences in other test results (P>0.05). Conclusions: The low-frequency acoustic information provided by EAS as well as the electrical-acoustic stimulation mode can provide rich auditory cues of speech perception in noise, tone recognition in noise, and musical discrimination for CI subjects. It can promote the improvement of complex listening ability of CI patients undergoing long-term electrical stimulation in a short time and comprehensively improve their hearing capacities.

RNA base editing therapy cures hearing loss induced by OTOF gene mutation

Otoferlin (OTOF) gene mutations represent the primary cause of hearing impairment and deafness in auditory neuropathy. The c.2485C>T (p. Q829X) mutation variant is responsible for approximately 3% of recessive prelingual deafness cases within the Spanish population. Previous studies have used two recombinant AAV vectors to overexpress OTOF, albeit with limited efficacy. In this study, we introduce an enhanced mini-dCas13X RNA base editor (emxABE) delivered via an AAV9 variant, achieving nearly 100% transfection efficiency in inner hair cells. This approach is aimed at treating OTOFQ829X, resulting in an approximately 80% adenosine-to-inosine conversion efficiency in humanized OtofQ829X/Q829X mice. Following a single scala media injection of emxABE targeting OTOFQ829X (emxABE-T) administered during the postnatal day 0-3 period in OtofQ829X/Q829X mice, we observed OTOF expression restoration in nearly 100% of inner hair cells. Moreover, auditory function was significantly improved, reaching similar levels as in wild-type mice. This enhancement persisted for at least 7months. We also investigated P5-P7 and P30 OtofQ829X/Q829X mice, achieving auditory function restoration through round window injection of emxABE-T. These findings not only highlight an effective therapeutic strategy for potentially addressing OTOFQ829X-induced hearing loss but also underscore emxABE as a versatile toolkit for treating other monogenic diseases characterized by premature termination codons.

A rare case of diabetes mellitus and congenital deafness in an 18 month old girl with Wolfram like syndrome

A rare case of diabetes mellitus and congenital deafness in an 18 month old girl with Wolfram like syndrome

A case of occupational explosive deafness caused by non explosive strong noise

Occupational explosive hearing loss is often caused by close exposure to blasting operations or the impact waves and strong pulse noise generated by explosions of flammable and explosive chemicals, pressure vessels, etc. in the workplace. This article analyzes the diagnosis of a case of occupational explosive hearing loss caused by non explosion, in order to improve the flexible application of diagnostic standards by occupational disease diagnosis physicians.

Cortical deafness as a sequel of recurrent stroke in patient with prosthetic heart valves and atrial fibrillation: a case report

BackgroundCortical deafness is an unusual occurrence caused by injury to the central auditory pathway but not to the hearing organ. This paper reports the first case of cortical deafness as a sequel of recurrent stroke in a patient with prosthetic heart valves and atrial fibrillation in Asia.Case presentationA 40-year-old man with a history of atrial fibrillation and valvular heart disease comes with weakness on the right side of the body and slurred speech. Examination showed hemiplegia with increased d-dimer and activated partial thromboplastin time. (APTT). Brain MRI showed multiple subacute infarctions in the temporal lobe. Diffusion Tensor Imaging (DTI) tractography showed no visible auditory tract. Pure tone audiogram and brainstem auditory evoked potential test was normal, but speech reception threshold test was very poor. The patient has been diagnosed with recurrent ischemic stroke with sequel cortical deafness and received anticoagulant therapy and speech therapy. The patient reported minimal subjective impairment 1 month later with no further neurological deterioration.ConclusionsA multidisciplinary clinical approach is needed in patients with cortical deafness, especially distinguishing it from other central hearing losses.

NIHSS is deficient in acute stroke presenting with cortical deafness; clinical skills remain the backbone: a case report

BackgroundNational institutes of health stroke scale (NIHSS) is used, since its appearance in analysis of stroke in any national or international single center or multicenter study. It is also the golden standard assessment scale for stroke patients whether by emergency medical services on the way to hospital or by emergency room staff and by neurologists whether juniors or senior consultants. Yet, it is not capable of identifying all stroke cases. Along the current case report a relatively rare case of cortical deafness is presented highlighting its rarity and its vascular mechanism as well as how defective is NIHSS in recognizing it.Case presentation72-year-old female patient presented with sudden episodic less than 60 min duration of bilateral deafness; initial imaging showed right hemispheric encephalomalacia of old stroke. Patient was initially managed as psychogenic case especially that her NIHSS was zero. On returning again to emergency room she was administered thrombolysis and regained full hearing power. Follow-up imaging revealed a new ischemic stroke along her left auditory cortex explaining her cortical deafness.ConclusionCortical deafness might be missed especially that NIHSS does not detect it. NIHSS role as the only golden standard scale for diagnosing and following up stroke cases ought to be revised.

Prepositional Phrases in Deaf and Hearing Students’ Narratives: A Functional Perspective

Comprehending the linguistic features of deaf student writers in comparison to those of the hearing group at the further phase helps in providing pedagogical treatment for mitigating the linguistic gap between both. In line with this idealism, the present study aims to reveal the phenomena of prepositional phrase positions and patterns of deaf and hearing students in representing the circumstances of their real-life narratives. Four stories about being chased by a dog were elicited from each of the groups. The analysis was carried out by employing the table adapted from the experiential framework of Halliday and Matthiessen (2004). The findings in general reveal the less flexible positions of prepositional phrases and the less complex prepositional phrase patterns of the deaf group. Though the results of this study might not be absolutely conclusive, at least they portray the insight into the certain tendency between both groups of students in representing the circumstances for their meaning making of narratives. At the further phase, the findings of the present study are expected to provide benefits for language teachers and practitioners in the context of special education especially the case of deafness.

Two-Year Outcomes of Cochlear Implant Use for Children With Unilateral Hearing Loss: Benefits and Comparison to Children With Normal Hearing.

Children with severe-to-profound unilateral hearing loss, including cases of single-sided deafness (SSD), lack access to binaural cues that support spatial hearing, such as recognizing speech in complex multisource environments and sound source localization. Listening in a monaural condition negatively impacts communication, learning, and quality of life for children with SSD. Cochlear implant (CI) use may restore binaural hearing abilities and improve outcomes as compared to alternative treatments or no treatment. This study investigated performance over 24 months of CI use in young children with SSD as compared to the better hearing ear alone and to children with bilateral normal hearing (NH). Eighteen children with SSD who received a CI between the ages of 3.5 and 6.5 years as part of a prospective clinical trial completed assessments of word recognition in quiet, masked sentence recognition, and sound source localization at regular intervals out to 24-month postactivation. Eighteen peers with bilateral NH, matched by age at the group level, completed the same test battery. Performance at 24-month postactivation for the SSD group was compared to the performance of the NH group. Children with SSD have significantly poorer speech recognition in quiet, masked sentence recognition, and localization both with and without the use of the CI than their peers with NH. The SSD group experienced significant benefits with the CI+NH versus the NH ear alone on measures of isolated word recognition, masked sentence recognition, and localization. These benefits were realized within the first 3 months of use and were maintained through the 24-month postactivation interval. Young children with SSD who use a CI experience significant isolated word recognition and bilateral spatial hearing benefits, although their performance remains poorer than their peers with NH.

ATP-Dependent Chromatin Remodellers in Inner Ear Development.

During transcription, DNA replication and repair, chromatin structure is constantly modified to reveal specific genetic regions and allow access to DNA-interacting enzymes. ATP-dependent chromatin remodelling complexes use the energy of ATP hydrolysis to modify chromatin architecture by repositioning and rearranging nucleosomes. These complexes are defined by a conserved SNF2-like, catalytic ATPase subunit and are divided into four families: CHD, SWI/SNF, ISWI and INO80. ATP-dependent chromatin remodellers are crucial in regulating development and stem cell biology in numerous organs, including the inner ear. In addition, mutations in genes coding for proteins that are part of chromatin remodellers have been implicated in numerous cases of neurosensory deafness. In this review, we describe the composition, structure and functional activity of these complexes and discuss how they contribute to hearing and neurosensory deafness.

Case report: a rare case of hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome due to heterozygous pathogenic GATA3 alteration

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

The Reduction in Microtubule Arrays Caused by the Dysplasia of the Non-Centrosomal Microtubule-Organizing Center Leads to a Malformed Organ of Corti in the Cx26-Null Mouse.

Mutations in the GJB2 gene account for approximately 20–50% of all non-syndromic hereditary deafness cases. The malformed organ of Corti (OC) was observed in different Cx26-null mouse models, which was mainly caused by the developmental arrest of pillar cells (PCs). However, the mechanism of developmental abnormalities in PCs caused by Cx26 deletion is still unclear. In this study, the ultrastructure of PCs at different postnatal days was observed in Cx26-null mice. Knockout of cochlear Cx26 led to the malformed assembly of non-centrosomal microtubule-organizing centers (MTOCs) far from the centrosome rather than near the centrosome. Additionally, the microtubule (MT) arrays emitted by abnormal non-centrosomal MTOCs were significantly reduced. In addition, we found that the protein expression of calmodulin-regulated, spectrin-associated protein2 (camsap2), a microtubule minus-end targeting protein associated with the organization of non-centrosomal MTs, was decreased in juvenile PCs in the Cx26-null group. Our results indicated that the malformation of non-centrosomal MTOCs in cochlear PCs might lead to the corresponding MTs’ failure to be captured and anchored in Cx26-null mice, which results in the deformity of OC. Additionally, this abnormal developmental process might be correlated with the reduced expression of camsap2 caused by Cx26 deletion in the early developmental stage.

Otologic disorders and management strategies in Turner syndrome

Objective: To analyze the incidence and risk factors of otologic disorders in patients with Turner syndrome (TS), so as to provide management strategies for ear health. Methods: This study is a prospective study based on questionnaires and a cross-sectional study. The TS patients who visited our hospital from 2010 January to 2021 March were included (A total of 71 patients with TS were included in this study. the age of TS diagnosed was 3- to 11-year-old, age of visiting ENT department was 4- to 27-year-old) and the incidence of otologic diseases in different age groups was investigated by questionnaires. The cross-sectional study included ear morphology and auditory function assessment, and further analysis of the risk factors that related to ear disease. Prism was used for data analysis. Results: The investigation found that the incidence of acute otitis media in patients aged 3-6 and 7-12 years was higher than that of patients over 12 years old, which was 33.8%(24/71), 42.9%(30/70)and 23.5%(8/34), respectively; 21.1% (15/71) of patients were recurrent acute otitis media in patients aged 3-6 years, and about 46.6% (7/15)of them persisted beyond 6-year. The prevalence of otitis media with effusion in the three groups was 32.4%(23/71), 34.3%(24/70)and 38.2%(13/34), respectively; the recurrence rate of tympanocentesis was 100%(7/7), 42.9%(3/7)and 50.0%(1/2), which was significantly higher than that of grommet insertion. For age groups of 3-6 and 7-12 years, the prevalence of acute otitis media and secretory otitis media was lower in the X chromosome structure abnormal patients; while for patients older than 12 years, otitis media with effusion was the highest prevalence in Y-chromosome-containing karyotypes. In addition, the prevalence of acute otitis media and otitis media with effusion in patients with other system diseases were increased significantly. A cross-sectional study found that 7.0% (5/71)of the lower auricular, 4.2% (3/71)of the external auditory canal narrow, and 38.0% (27/71)of the tympanic membrane abnormality. 35.2%(25/71) had abnormal hearing, including 17 cases of conductive deafness, 6 cases of sensorineural hearing loss, and 2 cases of mixed deafness. The rest of the patients had normal hearing, but 6 of them had abnormalities in otoacoustic emission. Eustachian tube function assessment found that the eustachian tube dysfunction accounted for 38%(27/71). Hearing loss and abnormal Eustachian tube function were not significantly related to karyotype(Chi-square 2.83 and 2.84,P value 0.418 and 0.417), but significantly related to other system diseases(Chi-square 13.43 and 7.53,P value<0.001). Conclusions: The incidence of TS-related otitis media and auditory dysfunction is significantly higher than that of the general population. It not only occurs in preschool girls, but also persists or develops after school age. Accompanied by other system diseases are risk factors for ear diseases. Clinicians should raise their awareness of TS-related ear diseases and incorporate ear health monitoring into routine diagnosis and treatment.

Imaging and audiological features of children with cochlear nerve deficiency.

Objective: Cochlear nerve deficiency (CND) accounts for 10-19% of hearing loss in children; this study investigated the imaging and audiological features of 25 CND children. Methods: A total of 563 children with an unpassed automatic auditory brainstem response were diagnosed with hearing loss in our department between December 2018 and December 2021, of which, the imaging and audiological features of 25 children (25/563, 4.4%) diagnosed with a CND were reviewed. Results: Twenty-one (21/25, 84.0%) CND children had unilateral deafness, and 4 cases of bilateral deafness. All deaf ears were diagnosed as severe hearing loss due to an auditory brainstem response. CM waves were recorded in 8 cases and DPOAE in 3 cases, suggesting the audiological characteristics of auditory neuropathy spectrum disorders (ANSD). MRI results indicated 23 cases had small cochlear nerves and 2 cases had absent cochlear nerves. No genetic mutations were identified in the 25 CND children. Conclusions: Most CND children had unilateral hearing loss; therefore, high-resolution MRI imaging of the internal auditory canal should be performed to detect the auditory nerve in children with severe hearing loss. Some CND children had characteristics of ANSD.

Analysis on incidence of occupational diseases in Guangzhou from 2010 to 2020

Objective: To analyze the incidence characteristics of occupational diseases in Guangzhou from 2010 to 2020, provide scientific basis for formulating occupational disease prevention and control policies. Methods: In January 2021, based on the data of occupational diseases in Guangzhou reported in the Information Monitoring System of Occupational Diseases and Occupational Health, descriptive epidemiological method was used to analyze the types and characteristics of occupational diseases in Guangzhou from 2010 to 2020. Results: A total of 1341 cases of 38 kinds of occupational diseases in 9 categories were reported in the past 11 years. The incidence of occupational pneumoconiosis, occupational otolaryngology and oral diseases and occupational chemical poisoning ranked the top three, accounting for 38.1% (511/1341) , 30.5% (409/1341) and 16.2% (217/1341) of the total cases respectively. The cases of pneumoconiosis in welders and silicosis accounted for 47.7% (244/511) and 34.4% (176/511) of the cases of occupational pneumoconiosis respectively. The cases of noise deafness accounted for 99.8% (408/409) of occupational otorhinolaryngology oral diseases. Acute occupational chemical poisoning cases accounted for 26.7% (58/217) of the occupational chemical poisoning cases, in which dichloroethane poisoning cases ranked the first, accounting for 79.3% (46/58) . Chronic occupational chemical poisoning cases accounted for 73.3% (159/217) of the occupational poisoning cases, in which benzene and lead poisoning cases ranked the top two, accounting for 79.2% (126/159) and 17.6% (28/159) respectively. Conclusion: Pneumoconiosis, silicosis, noise deafness, benzene poisoning, lead poisoning, dichloroethane poisoning should be supervised and managed as key occupational diseases in Guangzhou.

Dynamic changes of vestibular autorotation test in patients with unilateral vestibular dysfunction during rehabilitation

Objective: To explore the dynamic changes of vestibular autorotation test (VAT) before and after vestibular rehabilitation treatment in patients with unilateral vestibular hypofunction (UVH). Methods: A retrospective study was carried out,48 patients who were diagnosed with UVH and under vestibular rehabilitation in department of otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, from January 2019 to January 2021 were enrolled. Among them, there were 21 males and 27 females, with an average age of 46.9 years old, including 25 cases of Meniere's disease, 13 cases of sudden deafness with vertigo and 10 cases of vestibular neuritis. The course of disease ranged from 5 days to 10 years. Demographic characteristics, detailed case data and routine examination were collected for the patients. The horizontal gain/phase, vertical gain/phase, and asymmetry of VAT at different frequencies before and after vestibular rehabilitation were collected. The absolute value of the difference between the measured value of 2.0-5.9 Hz before and after rehabilitation and the standard value were statistically analyzed. Results: Before vestibular rehabilitation, the incidence of abnormal gain was 62.5% (30/48), the incidence of abnormal phase was 56.3% (27/48), and the incidence of asymmetry was 16.7% (8/48). After 4-6 weeks of vestibular rehabilitation, the incidence of gain abnormality was 22.9% (11/48), the incidence of phase abnormality was 31.3% (15/48), and the incidence of asymmetry was 12.5% (6/48).The horizontal gain at frequency of 2.0-3.9 Hz showed statistically significant difference compared with before vestibular rehabilitation (P<0.05), and the horizontal gain at frequency of 4.3-5.9 Hz showed that there was no significant difference (P>0.05); the horizontal phase at 5.9 Hz showed that the difference was statistically significant (P=0.043), and there was no significant difference before and after rehabilitation treatment at 2.0-5.5 Hz (P>0.05); the vertical gain at 4.3 Hz showed the difference was statistically significant (P=0.020), and the remaining frequency showed no significant difference (P>0.05); No frequency of asymmetry and vertical phase showed the difference before and after rehabilitation was statistically significant (P>0.05). Conclusion: VAT can be used to monitor the change trend of multiple frequency bands before and after vestibular rehabilitation in UVH, in order to provide reference for the formulation of personalized rehabilitation strategies.