The Association Between Mitochondrial tRNAGlu Variants and Hearing Loss: A Case-Control Study.

Purpose: This study aimed to examine the frequencies of mt-tRNAGlu variants in 180 pediatric patients with non-syndromic hearing loss (NSHL) and 100 controls. Methods: Sanger sequencing was performed to screen for mt-tRNAGlu variants. These mitochondrial DNA (mtDNA) pathogenic mutations were further assessed using phylogenetic conservation and haplogroup analyses. We also traced the origins of the family history of probands carrying potential pathogenic mtDNA mutations. Mitochondrial functions including mtDNA content, ATP and reactive oxygen species (ROS) were examined in cells derived from patients carrying the mt-tRNAGlu A14692G and CO1/tRNASer(UCN) G7444A variants and controls. Results: We identified four possible pathogenic variants: m.T14709C, m.A14683G, m.A14692G and m.A14693G, which were found in NSHL patients but not in controls. Genetic counseling suggested that one child with the m.A14692G variant had a family history of NSHL. Sequence analysis of mtDNA suggested the presence of the CO1/tRNASer(UCN) G7444A and mt-tRNAGlu A14692G variants. Molecular analysis suggested that, compared with the controls, patients with these variants exhibited much lower mtDNA copy numbers, ATP production, whereas ROS levels increased (p<0.05 for all), suggesting that the m.A14692G and m.G7444A variants led to mitochondrial dysfunction. Conclusion: mt-tRNAGlu variants are important risk factors for NSHL.

The main aim of our study was to explore the association between the mt-tRNA^Glu variants and hearing loss. We found that m.T14709C, m.A14683G, m.A14692G and m.A14693G variants were associated with hearing impairments, these variants localized at extremely conserved nucleotides of mt-tRNA^Glu and may result a failure in tRNA metabolism, furthermore, patients with mt-tRNA^Glu variants exhibited much lower levels of mtDNA copy number, ATP as compared with controls, whereas ROS increased. As a result, mt-tRNA^Glu variants may serve as biomarkers for mitochondrial deafness, and screening for tRNA^Glu variants is recommended for early detection and diagnosis of mitochondrial deafness.

Pathophysiology of human hearing loss associated with variants in myosins.

Deleterious variants of more than one hundred genes are associated with hearing loss including MYO3A, MYO6, MYO7A and MYO15A and two conventional myosins MYH9 and MYH14. Variants of MYO7A also manifest as Usher syndrome associated with dysfunction of the retina and vestibule as well as hearing loss. While the functions of MYH9 and MYH14 in the inner ear are debated, MYO3A, MYO6, MYO7A and MYO15A are expressed in inner ear hair cells along with class-I myosin MYO1C and are essential for developing and maintaining functional stereocilia on the apical surface of hair cells. Stereocilia are large, cylindrical, actin-rich protrusions functioning as biological mechanosensors to detect sound, acceleration and posture. The rigidity of stereocilia is sustained by highly crosslinked unidirectionally-oriented F-actin, which also provides a scaffold for various proteins including unconventional myosins and their cargo. Typical myosin molecules consist of an ATPase head motor domain to transmit forces to F-actin, a neck containing IQ-motifs that bind regulatory light chains and a tail region with motifs recognizing partners. Instead of long coiled-coil domains characterizing conventional myosins, the tails of unconventional myosins have various motifs to anchor or transport proteins and phospholipids along the F-actin core of a stereocilium. For these myosins, decades of studies have elucidated their biochemical properties, interacting partners in hair cells and variants associated with hearing loss. However, less is known about how myosins traffic in a stereocilium using their motor function, and how each variant correlates with a clinical condition including the severity and onset of hearing loss, mode of inheritance and presence of symptoms other than hearing loss. Here, we cover the domain structures and functions of myosins associated with hearing loss together with advances, open questions about trafficking of myosins in stereocilia and correlations between hundreds of variants in myosins annotated in ClinVar and the corresponding deafness phenotypes.

[Mutation spectrum analysis of 23-site chip neonatal deafness genetic screening].

Objective:To analyze the mutation spectrum of 23-site chip newborn deafness genetic screening in Beijing, and to provide basis for genetic counseling and clinical diagnosis and treatment. Methods:The study included 21 006 babies born in Beijing from December 2022 to June 2023. All subjects underwent newborn deafness genetic screening in Beijing Tongren Hospital, covering 23 variants in 4 genes, the GJB2 gene（c.35delG, c.176_191del16, c.235delC, c.299_300delAT, c.109G>A, c.257C>G, c.512insAACG, c.427C>T, c.35insG）, SLC26A4 gene（c.919-2A>G, c.2168A>G, c.1174A>T, c.1226G>A, c.1229C>T, c.1975G>C, c.2027T>A, c.589G>A, c.1707+5G>A, c.917insG, c.281C>T）, Mt12SrRNA（m.1555A>G, m.1494C>T） and GJB3 gene（c.538C>T）. The mutation detection rate and allele frequency were analyzed. Results:The overall mutation detection rate was 11.516%（2 419/21 006）, with the GJB2 gene being the most frequently involved at 9.097%（1 911/21 006）, followed by the SLC26A4 gene at 2.123%（446/21 006）, the GJB3 gene at 0.362%（76/21 006） and Mt12SrRNA at 0.176%（37/21 006）. Among the GJB2 genes, c.109G>A and c.235delC mutation detection rates were the highest, with 6.579%（1 382/21 006） and 1.795%（377/21 006）, respectively. Of the SLC26A4 genes, c.919-2A>G and c.2168A>G had the highest mutation rates of 1.423%（299/21 006） and 0.233%（49/21 106）, respectively. Regarding the allele frequency, GJB2 c.109G>A was the most common variant with an allele frequency of 3.359%（1 411/42 012）, followed by the GJB2 c.235delC at 0.897%（377/42 012） and the SLC26A4 c.919-2A>G at 0.719%（302/42 012）. Conclusion:23-site chip newborn deafness genetic screening in Beijing showed that GJB2 c.109G>A mutation detection rate and allele frequency were the highest. This study has enriched the epidemiological data of 23-site chip genetic screening mutation profiles for neonatal deafness, which can provide evidence for clinical practice.

A PAX3 insertion in the Celestial breed and certain feline breeding lines with dominant blue eyes.

During the last 60 years many inherited traits in domestic outbred cats were selected and retained giving birth to new breeds characterised by singular coat or morphological phenotypes. Among them, minimal white spotting associated with blue eyes was selected by feline breeders to create the Altai, Topaz, and Celestial breeds. Various established breeds also introduced this trait in their lineages. The trait, that was confirmed as autosomal dominant by breeding data, was first described in domestic cats from Kazakhstan and Russia, in British shorthair and British longhair from Russia, and in Maine Coon cats from the Netherlands, suggesting different founding effects. Using a genome-wide association study we identified a single region on chromosome C1 that was associated with the minimal white spotting and blue eyes phenotype (also called DBE by breeders for dominant blue eyes) in the French Celestial breed. Within that region we identified Paired Box 3 (PAX3) as the strongest candidate gene, since PAX3 is a key regulator of MITF (Melanocyte-Inducing Transcription Factor) and PAX3 variants have been previously identified in various species showing white spotting with or without blue eyes including the mouse and the horse. Whole genome sequencing of a Celestial cat revealed an endogenous retrovirus LTR (long terminal repeat) insertion within PAX3 intron 4 known to contain regulatory sequences (conserved non-coding element [CNE]) involved in PAX3 expression. The insertion is in the vicinity of CNE2 and CNE3. All 52 Celestial and Celestial-mixed cats with a DBE phenotype presented the insertion, that was absent in their 22 non-DBE littermates and in 87 non-DBE cats from various breeds. The outbred Celestial founder was also heterozygous for the insertion. Additionally, the variant was found in nine DBE Maine Coon cats related to the Celestial founder and four DBE Siberian cats with an uncertain origin. Segregation of the variant in the Celestial breed is consistent with dominant inheritance and does not appear to be associated with deafness. We propose that this NC_018730.3:g.206974029_206974030insN[395] variant represents the DBECEL (Celestial Dominant Blue Eyes) allele in the domestic cat.

Prevalence of Single-Sided Deafness in a Tertiary Healthcare Hospital in Mumbai.

PURPOSE: The current study was taken up to estimate the prevalence of Single Sided Deafness (SSD) in a tertiary healthcare hospital in Mumbai. Also to determine the acceptance of Contralateral routing of offside signal (CROS) devices by individuals with SSD. METHOD: A retrospective study design was followed to collect data from September 2020 to September 2022. The data were collected by reviewing the files of the cases diagnosed with Single-Sided Deafness in a tertiary health care hospital in Mumbai. RESULT: The prevalence of SSD was found to be 24% for the given period. It was observed that 50 out of 4456 took a free trial and 2 bought the device. CONCLUSION: The poor acceptance and purchase of CROS are attributed to the cost, and missed benefits of true binaural hearing in localization and hearing in noise. These benefits can be achieved by using CI, however, the cost and fear of surgery refrained the participants. Also, participants were observed to learn great use of communication repair strategies. Therefore, it is required to counsel individuals with SSD for CI and provide knowledge about care for the better with regular audiological follow-up.

Pediatric Cochlear Implants in the Chudley-McCullough Syndrome: A Report of Two Cases.

Chudley-McCullough syndrome (CMS) is a rare autosomal recessive disorder characterized by sensorineural hearing loss and cerebral abnormalities, including ventriculomegaly and partial dysgenesis of the corpus callosum. CMS is caused by two inactivating mutations of the G protein signaling modulator 2 (GPSM2), which maintains inner hair cell polarity and spindle orientation. Since its initial description, CMS has been reported approximately 30 times in the medical literature with several individuals undergoing cochlear implantation to restore their hearing. Interestingly, within the past two years, we encountered two cases of CMS in our hospital, which primarily serves patients within a 30-mile radius. To our knowledge, the literature has yet to evaluate two unrelated cases of CMS occurring in such close succession. This case report describes two successful cases of bilateral cochlear implantation in two children with CMS. Notably, these individuals have no family history of consanguinity or prior hearing loss.

A Protocol for the Automated Assessment of Cutaneous Pathology in a Mouse Model of Hemichannel Dysfunction.

In this chapter, we provide detailed instructions to perform quantitative reflectance imaging in a mouse model of a rare epidermal disorder caused by hyperactive connexin 26 hemichannels. Reflectance imaging is a versatile and powerful tool in dermatology, offering noninvasive, high-resolution insights into skin pathology, which is essential for both clinical practice and research. This approach offers several advantages and applications. Unlike traditional biopsy, reflectance imaging is noninvasive, allowing for real-time, in vivo examination of the skin. This is particularly valuable for monitoring chronic conditions or assessing the efficacy of treatments over time, enabling the detailed examination of skin morphology. This is crucial for identifying features of skin diseases such as cancers, inflammatory conditions, and infections. In therapeutic applications, reflectance imaging can be used to monitor the response of skin lesions to treatments. It can help in identifying the most representative area of a lesion for biopsy, thereby increasing the diagnostic accuracy. Reflectance imaging can also be used to diagnose and monitor inflammatory skin diseases, like psoriasis and eczema, by visualizing changes in skin structure and cellular infiltration. As the technology becomes more accessible, it has potential in telemedicine, allowing for remote diagnosis and monitoring of skin conditions. In academic settings, reflectance imaging can be a powerful research tool, enabling the study of skin pathology and the effects of novel treatments, including the development of monoclonal antibodies for therapeutic applications.

Johanson-Blizzard Syndrome: A Case Report From Bahrain With a Literature Review.

Johanson-Blizzard syndrome (JBS) is a rare hereditary autosomal recessive disorder caused by a mutation in the ubiquitin protein ligase E3 component n-recognin 1 (UBR1) gene. This syndrome is characterized by the following typical clinical features: hypoplasia or aplasia of the alae nasi, congenital scalp defects, sensorineural hearing loss, hypothyroidism, growth retardation, psychomotor retardation, imperforate anus, genitourinary anomalies, and atypical hair patterns. Here, we describe a case of a 12-year-old girl with JBS of consanguineous parents. During the last trimester of pregnancy, a congenital abnormality affecting the nose was detected. Immediately after birth, the clinical examination revealed dysmorphic features in the form of hypoplastic alae nasi, microcephaly, mild hypotelorism, and cutis aplasia on the scalp. The genetic testing of the patient showed a novel sequence change mutation of the UBR1 gene (1bp duplication causing a frameshift), while both parents were carriers for this mutation. Moreover, a diagnosis of pancreatic insufficiency and subclinical hypothyroidism was made based on clinical presentation and laboratory results. The patient was started on pancreatic enzyme replacement therapy and fat-soluble vitamins, minerals, and antioxidant syrup. Further assessment revealed hypotonia, growth impairment, delay in reaching developmental milestones, and bilateral profound sensorineural hearing loss, which was managed with bilateral cochlear implantation. In addition, the patient underwent multiple craniofacial reconstructive surgeries. This case report highlights the importance of early diagnosis and multidisciplinary care of patients with JBS.

High Prevalence of Cochlear Nerve Deficiency in Pediatric Patients With Cochlear Aperture Stenosis.

OBJECTIVE: Cochlear nerve deficiency (CND) is a common radiologic finding among unilateral sensorineural hearing loss (USNHL) patients. It is generally detected with magnetic resonance imaging (MRI), which is associated with higher cost, less availability, and possible need for sedation. Therefore, identifying computed tomography (CT) findings, such as cochlear aperture stenosis (CAS), that can reliably predict CND is valuable. Our study aimed to determine the prevalence of CND in pediatric patients with CT-diagnosed CAS. STUDY DESIGN: Retrospective study. SETTING: Tertiary care center. METHODS: We included pediatric patients diagnosed with CAS on temporal bone CT and with available temporal bone MRI. For each patient, an otolaryngologist and a pediatric neuroradiologist measured the cochlear aperture width on CT to confirm CAS (cochlear aperture < 1.4 mm) and assessed the status of the cochlear nerve on MRI. RESULTS: Fifty-five patients, representing 65 ears, had CAS on CT measurement. Median cochlear aperture width in CAS ears was 0.70 mm (interquartile range [IQR]: 0.40-1.05 mm) versus 2.00 mm in non-CAS ears (IQR: 1.80-2.30 mm, P < .001). CND was found in 98.5% (n = 64/65) of CAS ears, while a normal cochlear nerve was found in 1.5% (n = 1/65) of CAS ears. CONCLUSION: CND is highly prevalent among pediatric patients with CAS. This suggests that MRI may not be needed to assess for CND in USNHL patients with CAS, as initial CT may provide sufficient information to determine cochlear implant candidacy. We recommend thoughtful shared decision-making with parents of USNHL patients when determining whether to pursue MRI in the setting of a CAS diagnosis.

Remote Check as a tele-health instrument for cochlear implant recipients: Analysis of impact and feasibility of application.

PURPOSE: The number of cochlear implant (CI) surgeries is growing over time, with the risk of overloading CI centers in the post-surgical management. Telemedicine is a possible solution to address this phenomenon. Remote Check (RC) is an application that is specific for CI recipients monitoring. The aim of this study is to evaluate the feasibility of application, potential economic impact and patients' acceptance of RC. METHODS: The study is retrospective investigation, data on clinical, audiological features (from remote and on-site evaluation), and satisfaction surveys of 66 consecutive patients were collected; costs required for RC and for on-site evaluations were recorded as well. RESULTS: One hundred and ninety RC sessions were completed by the patients (2.88 sessions per patient). RC and on-site audiometry significantly correlated except for the 500 Hz frequency. Estimated costs for the Italian National Health System for RC review and on-site evaluations were 1.32€ and 3.49€ per minute, respectively. High satisfaction for RC was reached in 91 % of patients. CONCLUSION: RC revealed to be a reliable, cost-effective and well accepted tool in CI monitoring. This study preliminarily supports the hypothesis that RC could be a valid instrument to reduce CI management overload in the outpatient clinic.

[Primary central nervous system lymphoma presenting as a unilateral internal auditory canal lesion: a case report].

A 61-year-old man with right hearing loss and staggering for seven months was diagnosed with sudden deafness although previous evaluation with MRI indicated minor abnormal findings. During follow-up, he developed hypogeusia, right facial nerve palsy, pain in right mandible, right-sided temporal pain, and cerebellar ataxia. Cerebrospinal fluid examination at admission revealed reduced glucose concentration and elevated soluble interleukin-2 receptor (sIL-2R) level, whereas serum sIL-2R level was within the normal range. Brain MRI showed a swollen contrast-enhanced lesion extending from the right internal auditory canal to the middle cerebellar peduncle. Gallium-67 (67Ga) single-photon emission-computed tomography-computed tomography (SPECT-CT) revealed abnormal accumulation at the lesion site. Pathologic analysis of the tumor after resection led to the diagnosis of primary central nervous system lymphoma. In the present case, the MRI and 67Ga SPECT-CT characteristics were distinct from those of vestibular schwannoma. In addition, elevation of sIL-2R in the cerebrospinal fluid but not in serum was useful for differential diagnosis.

EXPRESS: Parent-child sensorimotor coordination in toddlers with and without hearing loss.

Infants experience the world through their actions with objects and their interactions with other people, especially their parents. Prior research has shown that school-age children with hearing loss experience poorer quality interactions with typically hearing parents, yet little is known about parent-child interactions between toddlers with hearing loss and their parents early in life. In the current study, we used mobile eye-tracking to investigate parent-child interactions in toddlers with and without hearing loss (mean ages: 19.42 months, SD = 3.41 months). Parents and toddlers engaged in a goal-directed, interactive task that involved inserting coins into a slot and required joint coordination between the parent and the child. Overall, findings revealed that deaf toddlers demonstrate typical action skills in line with their hearing peers and engage in similar interactions with their parents during social interactions. Findings also revealed that deaf toddlers explored objects more and showed more temporal stability in their motor movements (i.e., less variation in their timing across trials) compared with hearing peers, suggesting further adaptability of the deaf group to their atypical sensory environment rather than poorer coordination. In contrast to previous research, findings suggest an intact ability of deaf toddlers to coordinate their actions with their parents and highlight the adaptability within dyads who have atypical sensory experiences.

Clinical experience of an adhesive bone conduction hearing system in children with congenital single-sided deafness.

OBJECTIVES: This study aimed to investigate the effects of an adhesive bone conduction device (aBCD) in children with congenital single-sided deafness (SSD). Specifically, we examined whether the aBCD elicits improvement in the speech perception ability of children with congenital SSD and whether using this device would adversely affect the horizontal localisation abilities of these children. METHODS: Thirteen school-aged children with SSD and seven children with Normal Hearing (NH) were included in this study. Speech perception in noise was measured using the Mandarin Speech Test Materials and sound localisation performance was evaluated using broadband noise stimuli (0.5-20 kHz), randomly played from seven loudspeakers at different stimulus levels (65-, 70-, and 75-dB SPL). RESULTS: All children with SSD showed inferior speech perception and sound localisation performance compared with children with NH. The aBCD use remarkably improved the speech perception abilities of these children under quiet and noise conditions; however, their sound localisation abilities neither improved nor deteriorated. CONCLUSION: This study reveals the effectiveness and safety of a non-surgical aBCD in paediatric patients with SSD. Our results provide a theoretical basis for early hearing intervention with an aBCD in children with congenital SSD who are temporarily unable to undergo ear surgery. LEVEL OF EVIDENCE: Level 3.

Epidemiology, aetiology and diagnosis of congenital hearing loss via hearing screening of 153 913 newborns.

BACKGROUND: Congenital hearing loss (HL), one of the most common paediatric chronic conditions, significantly affects speech and language development. Its early diagnosis and medical intervention can be achieved via newborn hearing screening. However, data on the prevalence and aetiology of congenital HL in infants who fail newborn hearing screening are limited. METHODS: The sample population included 153 913 infants who underwent newborn hearing screening, and the prevalence of congenital HL, defined as moderate to profound bilateral HL (BHL) or unilateral HL (UHL) (≥40 dB HL), in one prefecture of Japan was measured to minimize the loss-to-follow-up rate, a common factor affecting the screening procedure. Comprehensive aetiological investigation, including physiology, imaging, genetic tests, and congenital cytomegalovirus screening, was performed on children diagnosed with congenital HL. RESULTS: The calculated prevalence of congenital HL was 1.62 per 1000 newborns (bilateral, 0.84; unilateral, 0.77). More than half of the cases with congenital bilateral or severe to profound UHL showed genetic aetiology or cochlear nerve deficiency (CND), respectively. Approximately 4% and 6% of the cases of congenital BHL and UHL were associated with congenital cytomegalovirus infection and auditory neuropathy spectrum disorder, respectively. CONCLUSIONS: This is an epidemiological and comprehensive aetiological study of congenital HL, as determined via newborn hearing screening according to its severity and laterality, in a large-scale general population of a developed country. Our findings can serve as a reference for optimizing care and intervention options for children with HL and their families.

Effect of Partial Deafness on Voice in Children.

Elevated hearing thresholds cause disturbances in auditory control of voice. This leads to voice disorders that are described by changes in acoustic parameters of voice measured objectively. Voice changes can also be detected by perceptive assessment with GRBAS scale. This article presents the results of the study performed to analyze voice characteristics in a group of children with prelingual partial deafness (PD), a condition with normal hearing at low frequencies and deep hypoacusis (near deafness) at high frequencies. Voice disorders accompanying PD were not a subject of the intensive study before, therefore our study provides valuable data and help to understand more complex clinical aspects of PD. The study showed that voice characteristics in children with PD differs from children with normal hearing and shows some differences compared to voice of children with other types of hearing impairment. Major changes in PD are seen in frequency (F0, vF0), amplitude (vAm, sAPQ), noise (NHR), and tremor (FTRI) parameters. The changes were present in all groups of objective measures, which makes a difference versus normal hearing; however, the most significant changes were seen in a narrower range of parameters compared to children in other types of hearing impairment. Objective parameters correlate with the subjective features of voice of children with PD. With use of GRBAS scale, subjective voice assessment showed elevated indices of grade, roughness, breathy, asthenic, and strained voice, which described slightly harsh, breathy, dull, and a little tensed voice.

Reactivation of hepatitis C virus caused by steroid monotherapy for sudden deafness.

Hepatitis C virus (HCV) reactivation has been reported to be caused due to several anticancer drugs and immunosuppressive agents; however, HCV reactivation after steroid monotherapy has rarely been reported. Here, we report the case of a 65-year-old Japanese man with HCV infection who developed HCV reactivation after the administration of prednisolone (PSL) for 6 days for sudden deafness. In the patient history, the positivity for anti-HCV antibody was observed, but serum level of HCV RNA was not measured. Two months after PSL administration, the patient experienced an alanine aminotransferase (ALT) flare and the serum level of HCV RNA was observed to be 6.2 log IU/mL; then, the patient was admitted to our hospital for hepatitis treatment. Based on the clinical course and laboratory findings, the patient was diagnosed with HCV reactivation. Although the ALT levels decreased spontaneously during follow-up, they did not drop to normal range; subsequently, sofosbuvir and ledipasvir treatments were started. A sustained virological response 24 weeks after the end of treatment was achieved. This case study suggests that HCV reactivation with hepatitis flare can occur even after a steroid monotherapy, and doctors should pay attention to HCV reactivation when administering PSL for patients with HCV infection.

Developer perspectives on the ethics of AI-driven neural implants: a qualitative study.

Convergence of neural implants with artificial intelligence (AI) presents opportunities for the development of novel neural implants and improvement of existing neurotechnologies. While such technological innovation carries great promise for the restoration of neurological functions, they also raise ethical challenges. Developers of AI-driven neural implants possess valuable knowledge on the possibilities, limitations and challenges raised by these innovations; yet their perspectives are underrepresented in academic literature. This study aims to explore perspectives of developers of neurotechnology to outline ethical implications of three AI-driven neural implants: a cochlear implant, a visual neural implant, and a motor intention decoding speech-brain-computer-interface. We conducted semi-structured focus groups with developers (n = 19) of AI-driven neural implants. Respondents shared ethically relevant considerations about AI-driven neural implants that we clustered into three themes: (1) design aspects; (2) challenges in clinical trials; (3) impact on users and society. Developers considered accuracy and reliability of AI-driven neural implants conditional for users' safety, authenticity, and mental privacy. These needs were magnified by the convergence with AI. Yet, the need for accuracy and reliability may also conflict with potential benefits of AI in terms of efficiency and complex data interpretation. We discuss strategies to mitigate these challenges.

Rapid hearing threshold assessment with modified auditory brainstem response protocols in dogs.

Introduction: Auditory brainstem response (ABR) is the gold standard for hearing testing in dogs. ABR is commonly used in puppies to diagnose congenital sensorineural deafness. Long test times limit the use for a more comprehensive hearing screening in veterinary practice. This study aimed to establish a super-fast hearing screening protocol in dogs. Methods: Hearing thresholds were routinely measured with a mobile device designed for newborn hearing screening in 90 dogs. We introduced modifications of the ABR protocol, e. g., a binaural test mode, higher stimulus rates, a broadband chirp stimulus, and an algorithm for automatic peak V detection in a stepwise fashion. Hearing thresholds were then measured with fast protocols utilizing either 30 Hz click or 90 Hz broadband chirp stimuli with 80, 60, 40, 30, 20, 10, 0 and -10 dBnHL stimulation intensities. Interrater reliability, agreement between click and chirp hearing thresholds and correlations with clinical characteristics of the dogs were assessed. Results: Using all innovations, the test time for hearing threshold assessment in both ears was reduced to 1.11 min (mean). The chirp stimulus accentuated both, peak V and the subsequent trough, which are essential features for judgement of the hearing threshold, but preceding peaks were less conspicuous. Interrater reliability and agreement between click and chirp hearing threshold was excellent. Dogs >10 years of age and dogs with abnormal hearing score or otitis score had significantly higher hearing thresholds than younger dogs (p ≤ 0.001) or dogs without abnormalities (p < 0.001). Conclusion: The results demonstrate that modifications in ABR protocols speed-up test times significantly while the quality of the recordings for hearing threshold assessment is maintained. Modified ABR protocols enable super-fast hearing threshold assessment in veterinary practice.

Review and research gap identification in genetics causes of syndromic and nonsyndromic hearing loss in Saudi Arabia.

Congenital hearing loss is one of the most common sensory disabilities worldwide. The genetic causes of hearing loss account for 50% of hearing loss. Genetic causes of hearing loss can be classified as nonsyndromic hearing loss (NSHL) or syndromic hearing loss (SHL). NSHL is defined as a partial or complete hearing loss without additional phenotypes; however, SHL, known as hearing loss, is associated with other phenotypes. Both types follow a simple Mendelian inheritance fashion. Several studies have been conducted to uncover the genetic factors contributing to NSHL and SHL in Saudi patients. However, these studies have encountered certain limitations. This review assesses and discusses the genetic factors underpinning NSHL and SHL globally, with a specific emphasis on the Saudi Arabian context. It also explores the prevalence of the most observed genetic causes of NSHL and SHL in Saudi Arabia. It also sheds light on areas where further research is needed to fully understand the genetic foundations of hearing loss in the Saudi population. This review identifies several gaps in research in NSHL and SHL and provides insights into potential research to be conducted.

A Case of Unilateral Facial Spasm With Vulnerable Hearing Function Due to a History of Cisplatin Treatment, Resulting in Intraoperative Hearing Loss.

A 51-year-old man with a history of cisplatin treatment for a right testicular tumor underwent microvascular decompression for hemifacial spasm. At an early stage in the surgical procedure, the intraoperative auditory brainstem response (ABR) was diminished despite a relatively minimally invasive approach, resulting in irreversible hearing loss. Cisplatin is known to cause dose-dependent hearing impairment primarily affecting the cochlea, but it can also induce neurotoxicity. In the present case, prior cisplatin administration may have caused fragility of the cochlear nerve as well. Patients with a history of ototoxic and neurotoxic drugs such as cisplatin require more careful manipulation and thorough intraoperative auditory monitoring during neurosurgical procedures that may affect hearing, such as those for hemifacial spasms.