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Objectives: Hearing loss affects the emotional well-being of adults and is sometimes associated with clinical depression. Chronic tinnitus is highly comorbid with hearing loss and separately linked with depression. In this article, the authors investigated the combined effects of hearing loss and tinnitus on depression in the presence of other moderating influences such as demographic, lifestyle, and health factors., Design: The authors used the National Health and Nutrition Examination Survey data (2011-2012 and 2015-2016) to determine the effects of hearing loss and tinnitus on depression in a population of US adults (20 to 69 years). The dataset included the Patient Health Questionnaire-9 for depression screening, hearing testing using pure-tone audiometry, and information related to multiple demographic, lifestyle, and health factors (n = 5845)., Results: The statistical analysis showed moderate to high associations between depression and hearing loss, tinnitus, and demographic, lifestyle, and health factors, separately. Results of logistic regression analysis revealed that depression was significantly influenced by hearing loss (adjusted odds ratios [OR] = 3.0), the functional impact of tinnitus (adjusted OR = 2.4), and their interaction, both in the absence or presence of the moderating influences. The effect of bothersome tinnitus on depression was amplified in the presence of hearing loss (adjusted OR = 2.4 in the absence of hearing loss to adjusted OR = 14.9 in the presence of hearing loss). Conversely, the effect of hearing loss on depression decreased when bothersome tinnitus was present (adjusted OR = 3.0 when no tinnitus problem was present to adjusted OR = 0.7 in the presence of bothersome tinnitus)., Conclusions: Together, hearing loss and bothersome tinnitus had a significant effect on self-reported depression symptoms, but their relative effect when comorbid differed. Tinnitus remained more salient than hearing loss and the latter's contribution to depression was reduced in the presence of tinnitus, but the presence of hearing loss significantly increased the effects of tinnitus on depression, even when the effects of the relevant demographic, lifestyle, or health factors were controlled. Treatment strategies that target depression should screen for hearing loss and bothersome tinnitus and provide management options for the conditions., Competing Interests: The authors have no conflicts of interest to disclose., (Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.)

Victorian era psychologists were the first to comment on associations between sensory and cognitive function. More recently, hearing loss has been shown as a marker of risk for dementia. However, it is not known whether this association represents a causal impact of hearing loss, nor whether treating hearing loss may help prevent dementia. Most studies on relationships between hearing loss and cognitive outcomes are observational, are at risk of confounding, and cannot reach conclusions about causation. A recent high quality randomized controlled trial, relatively uncommon in audiology, reported no impact of a comprehensive hearing intervention in mitigating cognitive decline in older adults. Although secondary analysis revealed potential benefits in a sub-sample of adults, this finding may be spurious. Encouraging policymakers, patients, and other health care practitioners to address hearing loss in terms of dementia prevention may be inappropriate on the grounds of both relevance at individual level and lack of clear evidence of benefit. In addition, advocating need to address hearing loss in terms of mitigating dementia risk may reduce the importance of addressing hearing loss in its own right. Linking hearing loss to dementia risk may also exacerbate the stigma of hearing loss, inadvertently discouraging people from seeking help for hearing. We suggest that treating hearing loss may have important benefits in preventing or delaying diagnosis of dementia via improving orientation and functioning in daily life, without changing the underlying pathology. Rather than linking hearing loss to dementia risk, we suggest a positive message focusing on the known benefits of addressing hearing loss in terms of improved communication, quality of life, and healthy aging., Competing Interests: The authors have no conflicts of interest to disclose., (Copyright © 2024 The Authors. Ear & Hearing is published on behalf of the American Auditory Society, by Wolters Kluwer Health, Inc.)

Background: Previous research has demonstrated a significant association between vision and/or hearing loss and lifetime substance use., Objective: The objective of this analysis was to assess whether depression mediates the association between vision and/or hearing loss and recent substance use (RSU)., Methods: Data from 9408 NHANES 2013-2018 participants were used for a survey-weighted analysis to assess whether the indirect effect (IE) of disability status (neither, vision loss only, hearing loss only, both) on the outcome RSU (past 30-day use of marijuana, cocaine, methamphetamine, or heroin) was mediated by recent (past 2 weeks) depression (Patient Health Questionnaire- 9 items score; none = 0-4, mild or greater = 5+), adjusting for confounders., Results: The estimated prevalence of vision and/or hearing loss, mild or greater depression, and RSU were 6.7 %, 24.1 %, and 16.8 %. RSU was significantly positively associated with disability status before (p = .018) but not after adjusting for depression (p = .160), and the indirect effects were statistically significant (p < .001)., Conclusions: The data are consistent with the hypothesis that recent depression mediates the association between vision and/or hearing loss and RSU. Initiatives may be needed that incorporate a focus on the prevention, management, or care for depression to intervene on the pathway between hearing and/or vision loss and RSU., Competing Interests: Declaration of competing interest All authors claim there are no conflicts of interest, including financial interests, relevant to this manuscript., (Copyright © 2023 Elsevier Inc. All rights reserved.)

We encountered a 27-year-old Japanese woman with sensorineural deafness progressing to motor and sensory neuropathy. At 16 years old, she had developed weakness in her lower extremities and hearing impairment, which gradually deteriorated. At 22 years old, combined audiological, electrophysiological, and radiological examination results were consistent with auditory neuropathy spectrum disorder (ANSD). Genetic analyses identified a previously reported missense variant in the ATP1A1 gene (NM&#95;000701.8:c.1799C>G, p.Pro600Arg). Although sensorineural deafness has been reported as a clinical manifestation of ATP1A1-related disorders, our case suggested that ANSD may underlie the pathogenesis of deafness in ATP1A1-related disorders. This case report broadens the genotype-phenotype spectrum of ATP1A1-related disorders.

Purpose: Smith-Magenis syndrome (SMS), a rare, genetically linked complex developmental disorder caused by a deletion or mutation within chromosome 17p11.2, is associated with delays in speech-language development, otopathology, and hearing loss, yet previous studies lack comprehensive descriptions of hearing and communication profiles. Here, analyses of patient registry data expand what is known about speech, language, hearing, and otopathology in SMS., Method: International speech-language and hearing registry survey data for 82 individuals with SMS were analyzed using descriptive and inferential statistics. Hearing loss, history of otitis media and pressure equalization (PE) tubes, communication mode, expressive/receptive language, and vocal quality were analyzed for all subjects and subjects grouped by age. Statistical methods included descriptive statistics and Pearson's chi-square tests of independence to test for differences between age groups for each variable of interest. Association analyses included Pearson's correlations., Results: Hearing and otological analyses revealed that 35% of subjects had hearing loss, 66% had a history of otitis media, and 62% had received PE tubes. Speech-language analyses revealed that 60% of subjects communicated using speech, 79% began speaking words at/after 24 months of age, 92% combined words at/after 36 months, and 41% used sign language before speech. There was a significant association between the age that first words were spoken and the age that PE tubes were first placed. Communication strengths noted in more than 40% of subjects included social interest, humor, and memory for people, past events, and/or facts., Conclusions: Significant delays and impairment in speech-language were common, but the majority of those with SMS communicated using speech by age 6 years. Age was a significant factor for some aspects of hearing loss and communication. Neither hearing loss nor otitis media exacerbated language impairment. These results confirm and extend previous findings about the nature of speech, language, hearing, and otopathology in those with SMS.

Little is known about a possible association of autoimmune inner ear disease among patients diagnosed with polymyositis (PM)/dermatomyositis (DM). This study aimed to explore differences in the prevalence of inner ear symptoms among patients with and without PM/DM using a nationwide population-based dataset. Data for this study were retrieved from the Taiwan National Health Insurance Research Database. The study sample included 1622 patients diagnosed with PM/DM and 8109 propensity-score matched comparison patients without PM/DM. We performed multivariate logistic regressions to calculate odds ratios (ORs) and 95% confidence interval (CI) for tinnitus, hearing loss, sudden deafness, and vertigo among patients with PM/DM versus comparison patients. Chi-square tests showed statistically significant differences between patients with PM/DM and comparison patients in the prevalence of tinnitus (16.1% vs. 12.7%, p < 0.001), non-conductive hearing loss (9.2% vs. 6.8%, p < 0.001), and vertigo (14.4% vs. 11.1%, p < 0.001). The adjusted ORs for tinnitus, non-conductive hearing loss, and vertigo, respectively, were 1.332 (95% CI = 1.147-1.547), 1.399 (95% CI = 1.154-1.696), and 1.374 (95% CI = 1.173-1.611) for patients with PM/DM when compared to comparison patients. Our study finds that patients with PM/DM have higher prevalence rates of tinnitus, non-conductive hearing loss, and vertigo than comparison patients., (© 2024. The Author(s).)

This report discusses the case of a 54-year-old woman with a complex psychiatric history including schizophrenia, tardive dyskinesia, borderline intellectual function, and congenital deafness that reported auditory and visual hallucinations during an acute exacerbation of schizophrenia. After resuming a previous lithium regimen and introducing olanzapine, the patient improved and was discharged without hallucinations. In our report we explore some of the challenges we faced, discuss similar cases, and examine the unresolved debate about whether congenitally deaf patients can experience auditory hallucinations., (Copyright© South Dakota State Medical Association.)

Objective: To identify sociodemographic factors associated with pediatric late-identified hearing loss (LIHL) and classify novel subgroups within the LIHL population., Study Design: Retrospective cohort., Setting: Tertiary children's hospital., Methods: Our cohort included children with permanent hearing loss (HL) between 2012 and 2020 (n = 1087). Patients with early-identified HL were compared to patients with LIHL (>6 months of age at diagnosis), and 3 subgroups: (1) late-identified congenital HL: failed NHS but had a diagnostic audiogram >6 months old; (2) late-onset HL: passed NHS and identified with HL after 6 months old; (3) late-identified, unknown-onset: unknown NHS results, identified after 6 months old. Geospatial analysis was performed using ArcGIS Pro., Results: Compared with early-identified children, children with LIHL were more likely to have more comorbidities (odds ratio [OR] = 1.12, [1.01, 1.23]), be an under-represented minority (URM) (OR = 1.92, [1.27, 2.93]) and have a higher social vulnerability index (SVI) (adjusted odds ratio [AOR] = 2.1, [1.14, 3.87]). However, subgroups in the LIHL cohort had variable associations. Children with late-identified unknown onset hearing loss were uniquely associated with a primarily non-English speaking household (AOR = 1.84, [1.04, 3.25]), whereas children with late-onset hearing loss were less likely to have public insurance (AOR = 0.47, [0.27, 0.81]. There were no significant associations for children with late-identified congenital hearing loss. Neighborhood disadvantage, as measured by SVI, had an increased association with late-identified unknown onset HL (AOR = 4.08, [2.01, 8.28]) and a decreased association with late-onset HL (AOR = 0.40, [0.22, 0.72])., Conclusion: Sociodemographic factors serve as proxies for health care access, and these factors vary across LIHL pathways. Understanding the risk factors associated with each LIHL subgroup may help address disparities in pediatric HL identification., (© 2023 American Academy of Otolaryngology-Head and Neck Surgery Foundation.)

Noise-induced hearing loss (NIHL) often accompanies cochlear synaptopathy, which can be potentially reversed to restore hearing. However, there has been little success in achieving complete recovery of sensorineural deafness using nearly noninvasive middle ear drug delivery before. Here, we present a study demonstrating the efficacy of a middle ear delivery system employing brain-derived neurotrophic factor (BDNF)-poly-(dl-lactic acid- co -glycolic acid) (PLGA)-loaded hydrogel in reversing synaptopathy and restoring hearing function in a mouse model with NIHL. The mouse model achieved using the single noise exposure (NE, 115 dBL, 4 h) exhibited an average 20 dBL elevation of hearing thresholds with intact cochlear hair cells but a loss of ribbon synapses as the primary cause of hearing impairment. We developed a BDNF-PLGA-loaded thermosensitive hydrogel, which was administered via a single controllable injection into the tympanic cavity of noise-exposed mice, allowing its presence in the middle ear for a duration of 2 weeks. This intervention resulted in complete restoration of NIHL at frequencies of click, 4, 8, 16, and 32 kHz. Moreover, the cochlear ribbon synapses exhibited significant recovery, whereas other cochlear components (hair cells and auditory nerves) remained unchanged. Additionally, the cochlea of NE treated mice revealed activation of tropomyosin receptor kinase B (TRKB) signaling upon exposure to BDNF. These findings demonstrate a controllable and minimally invasive therapeutic approach that utilizes a BDNF-PLGA-loaded hydrogel to restore NIHL by specifically repairing cochlear synaptopathy. This tailored middle ear delivery system holds great promise for achieving ideal clinical outcomes in the treatment of NIHL and cochlear synaptopathy.

Purpose: Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome, also known as Barakat syndrome, is a rare autosomal dominant disease characterized by the triad of hypoparathyroidism, deafness, and renal abnormalities. The disorder is caused by the haploinsufficiency of the zinc finger transcription factor GATA3 and exhibits a great clinical variability with an age-dependent penetrance of each feature. We report two unrelated kindreds whose probands were referred to our outpatient clinic for further evaluation of hypoparathyroidism., Methods: The proband of family 1, a 17-year-old boy, was referred for severe hypocalcemia (5.9 mg/dL) incidentally detected at routine blood tests. Abdomen ultrasound showed bilateral renal cysts. The audiometric evaluation revealed the presence of bilateral moderate hearing loss although the patient could communicate without any problem. Conversely, the proband of family 2, a 19-year-old man, had severe symptomatic hypocalcemia complicated by epileptic seizure at the age of 14 years; his past medical history was remarkable for right nephrectomy at the age of 4 months due to multicystic renal disease and bilateral hearing loss diagnosed at the age of 18 years., Results: Based on clinical, biochemical, and radiologic data, HDR syndrome was suspected and genetic analysis of the GATA3 gene revealed the presence of two pathogenetic variants in exon 3, c.404dupC and c.431dupG, in the proband of family 1 and 2, respectively., Conclusion: HDR syndrome is a rare cause of hypoparathyroidism and must be excluded in all patients with apparently idiopathic hypoparathyroidism. A correct diagnosis is of great importance for early detection of other HDR-related features and genetic counseling., (© 2023. The Author(s), under exclusive licence to Italian Society of Endocrinology (SIE).)

Objectives: Hearing loss (HL) constitutes an increasing worldwide health problem. Neonatal hearing screening improved early detection and management to alleviate HL detriments on the person and society. Still, HL in childhood, beyond infancy, is under-investigated, especially in developing countries. This study aimed to explore the prevalence of HL in childhood amongst Jordanian children with HL risk factors and investigate the associated risk factors., Methods: Retrospective cross-sectional review of audiological records in a tertiary public and teaching hospital. The data of 1307 children aged 0-15 years who underwent audiological assessment from 2000 to 2016 were included. A review of diagnostic audiological and medical records was conducted to investigate the prevalence of sensorineural HL in high-risk (HR) children and the most contributing risk factors., Results: Descriptive statistical analysis showed that the prevalence of sensorineural HL was 29.2% in the study sample. The HL was bilateral in 95% and mild to moderate HL in 73%. The mean age at the diagnosis was around 4.5 years. The most common risk factors were parental concern about their child's hearing, ototoxic drug use, and developmental and speech delay. The Chi-squared test showed that parental concern and ototoxic drug use were associated with an increased probability of having HL., Conclusion: The prevalence of HL amongst at-risk children in Jordan is relatively high, and the diagnosis is delayed. The results highlight the importance of implementing a hearing screening program in at-risk children. This needs to start from birth and include a serial follow-up to detect cases of delayed-onset HL., Competing Interests: Declaration of competing interest None., (Copyright © 2023 Elsevier B.V. All rights reserved.)

Aims: Nearly 85% of maternally inherited diabetes and deafness (MIDD) are caused by the m.3243A>G mutation in the mitochondrial DNA. However, the clinical phenotypes of MIDD may also be influenced by the nuclear genome, this study aimed to investigate nuclear genome variants that influence clinical phenotypes associated with m.3243A>G mutation in MIDD based on whole-genome sequencing of the patients belonging to pedigrees., Materials and Methods: We analyzed a whole-genome sequencing (WGS) dataset from blood samples of 38 MIDD patients with the m.3243A > G mutation belonging to 10 pedigrees, by developing a Kinship-graph convolutional network approach, called Ki-GCN, integrated with the conventional genome-wide association study (GWAS) methods., Results: We identified eight protective alleles in the nuclear genome that have protective effects against the onset of MIDD, related deafness, and also type 2 diabetes. Based on these eight protective alleles, we constructed an effective logistic regression model to predict the early or late onset of MIDD patients., Conclusions: There are protective alleles in the nuclear genome that are associated with the onset-age of MIDD patients and might also provide protective effects on the deafness derived from MIDD patients., (© 2023 The Authors. Journal of Diabetes Investigation published by Asian Association for the Study of Diabetes (AASD) and John Wiley & Sons Australia, Ltd.)

Hyperlipidemia is characterized by elevated levels of blood lipids. The clinical manifestations are mainly atherosclerosis caused by the deposition of lipids in the vascular endothelium. The link between abnormal lipid metabolism and sudden hearing loss remains unclear. This article presents a case study of sudden hearing loss accompanied by familial hyperlipidemia. Pure tone audiometry indicated intermediate frequency hearing loss in one ear. Laboratory tests showed abnormal lipid metabolism, and genetic examination identified a heterozygous mutation in the APOA5 gene. Diagnosis: Sudden hearing loss; hypercholesterolemia. The patient responded well to pharmacological treatment. This paper aims to analyze and discuss thepotential connection between abnormal lipid metabolism and sudden hearing loss., Competing Interests: The authors of this article and the planning committee members and staff have no relevant financial relationships with commercial interests to disclose., (Copyright© by the Editorial Department of Journal of Clinical Otorhinolaryngology Head and Neck Surgery.)

Objectives: Congenital cytomegalovirus (cCMV) is the most common cause of nongenetic sensorineural hearing loss (SNHL) in children. We examined the longitudinal hearing outcomes of children with cCMV in relation to their newborn hearing screening findings, and their use of antiviral therapy., Design: The study was based on a retrospective chart review using a database of pediatric patients (N = 445) seen at the University of Minnesota Lions clinic. Chart review identified infants with cCMV, and records were reviewed for information about universal newborn hearing screen (UNHS) results, the clinical course of SNHL, and the use of antiviral therapy., Results: A total of 44 children were identified with cCMV. In this group, 33 (75%) had SNHL of varying degree and age at onset. Notably, 17 (39%) children passed UNHS bilaterally. Of those children, 6 (35%) ultimately acquired bilateral or unilateral SNHL, detected at a mean age of 20 months (median age, 12 months). Five out of 10 children (50%) that did not pass UNHS in one ear acquired late-onset hearing loss in the contralateral ear, identified at a mean age of 24 months (median age, 4 months). Eleven (25%) children passed UNHS bilaterally and continued to demonstrate normal hearing in both ears at their most recent follow-up visit at a mean age of 19 months (SD, 18 months). Of the 33 children with cCMV and SNHL, 18 (55%) received antiviral medication (ganciclovir and/or valganciclovir). While, on average, both treated and untreated ears experienced a progression of hearing loss over time, the group that received antiviral treatment experienced less overall hearing change compared with the untreated group (baseline-adjusted expected mean difference, -10.5 dB; 95% confidence interval, -28.1 to 7.2 dB)., Conclusions: Among children with cCMV included in this study who passed UNHS in both ears, 35% demonstrated delayed-onset SNHL. Notably, of those children who referred unilaterally, 50% later demonstrated SNHL in the contralateral ear. These findings have implications for audiological monitoring, and potentially antiviral therapy, of children with cCMV. As implementation of universal cCMV screening moves forward, a key aspect of follow-up will be appropriate long-term audiologic monitoring., Competing Interests: The authors have no conflicts of interest to disclose., (Copyright © 2023 The Authors. Ear & Hearing is published on behalf of the American Auditory Society, by Wolters Kluwer Health, Inc.)

Background: Occupational hearing loss is one of the most common work-related diseases with various risk factors and considerable negative impacts on both physical and mental well-being of affected workers. Occupational noise-induced hearing loss (ONIHL) has a complex interaction with personal, environmental and occupational factors., Objective: This study aimed to develop a risk model for ONIHL in workers by identifying risk factors and their interactions., Methods: The subjects were 605 males in an industrial factory in Arak, Iran. The study took place between 2022 and 2023. The sociodemographic and occupational characteristics were collected by a health technician using questionnaires and medical records. Hearing status was assessed using audiometry by a qualified audiologist. Hearing loss was analyzed by univariate logistic analysis including age, smoking, medical history, type of occupation, and some workplace hazards. The risk model was generated by logistic regression., Results: Hearing loss in the participants was 44.13% (n = 267). In univariate logistic analysis, age (OR: 2.93,95% CI: 1.848-4.656), smoking (OR: 1.80, 95% CI: 1.224-2.655), work experience (OR: 1.06, 95% CI: 1.016-1.107), previous exposure to noise (OR: 1.60, 95% CI: 1.112-2.312) or vibration (OR: 1.68, 95% CI: 1.150-2.475) and type of occupation (OR: 2.126, 95% CI: 1.055-4.285) were associated with an increased risk of ONIHL (P < 0.05)., Conclusion: It was found that vibration exposure, work experience, previous noise exposure, type of occupation as well as age and smoking significantly affected the likelihood of developing ONIHL. This risk model could help management to prevent ONIHL and enhance application-oriented research on the condition.

Purpose: The purpose of this study was to explore the relationships between hearing loss, cognitive status, and a range of health outcomes over a period of 2 years in a sample of older adults who are enrolled in Program of All-Inclusive Care for the Elderly, which is a Medicare/Medicaid beneficiary program for individuals who are nursing home eligible but living in the community at time of enrollment., Method: The sample ( N = 144) includes a diverse (47% White/non-Hispanic, 35% Black/African American, and 16% Latin/Hispanic) group of adults ranging from 55 to 93 years old. We used medical chart data to measure respondents' cognitive and health status, including chronic conditions and hospital use. Hearing status was measured once at the beginning of the 2-year review period. We used logistic regression and negative binomial hurdle models for analyses. We used latent class analysis (LCA) to explore the extent to which respondents cluster into a set of "health profiles" characterized by their hearing, cognitive status, and health conditions., Results: We found that hearing loss is weakly associated with heart disease and diabetes and associated with cerebrovascular disease and falls; cognitive impairment is also associated with cerebrovascular disease and the number of falls. LCA indicates that respondents cluster into a variety of health profiles with a consistent pairing of hearing loss and depression., Conclusions: The results are largely consistent with associations reported in epidemiological studies that include age-related hearing loss. Of particular interest in this study is the LCA that suggested that all of the profiles associated with a high likelihood of hearing loss included a high risk of depression. The co-occurrence of these two factors highlights the need to identify and treat hearing loss in older adults, especially as part of the treatment plan for individuals with depressive symptoms.

Background: Individuals with thiamine-responsive megaloblastic anemia (TRMA) mainly manifest macrocytic anemia, sensorineural deafness, ocular complications, and nonautoimmune diabetes. Macrocytic anemia and diabetes may be responsive to high-dosage thiamine treatment, in contrast to sensorineural deafness. Little is known about the efficacy of thiamine treatment on ocular manifestations., Cases Presentation: Our objective is to report data from four Italian TRMA patients: in Cases 1, 2 and 3, the diagnosis of TRMA was made at 9, 14 and 27 months. In 3 out of 4 subjects, thiamine therapy allowed both normalization of hyperglycemia, with consequent insulin suspension, and macrocytic anemia. In all Cases, thiamine therapy did not resolve the clinical manifestation of deafness. In Cases 2 and 3, follow-up showed no blindness, unlike Case 4, in which treatment was started for megaloblastic anemia at age 7 but was increased to high doses only at age 25, when the genetic diagnosis of TRMA was performed., Conclusions: Early institution of high-dose thiamine supplementation seems to prevent the development of retinal changes and optic atrophy in TRMA patients. The spectrum of clinical manifestations is broad, and it is important to describe known Cases to gain a better understanding of this rare disease., (© 2023. The Author(s).)

Neonatal diabetes and congenital hypothyroidism (CH) syndrome is a rare condition caused by homozygous or compound heterozygous mutations in the GLIS3 gene. Small for gestational age, congenital glaucoma, polycystic kidney disease, cholestatic hepatic fibrosis, pancreatic exocrine insufficiency, developmental delay, dysmorphic facial features, sensorineural deafness, osteopenia, and skeletal anomalies are other accompanying phenotypic features in the 22 cases described so far. We present a male patient with neonatal diabetes, CH, congenital glaucoma, developmental delay, and facial dysmorphism. During the patient’s 17-year follow-up, no signs of exocrine pancreatic insufficiency, liver and kidney diseases, deafness, osteopenia, and bone fracture were observed. A homozygous exon 10-11 deletion was detected in the GLIS3 gene. We report one of the oldest surviving GLIS3 mutation case with main findings of neonatal diabetes and CH syndrome to contribute to the characterization of the genotypic and phenotypic spectra of the syndrome., Competing Interests: Conflict of interest: None declared, (©Copyright 2023 by Turkish Society for Pediatric Endocrinology and Diabetes / The Journal of Clinical Research in Pediatric Endocrinology published by Galenos Publishing House.)

Approximately 40% of children with deafness have an additional developmental disorder or major medical problem, which may delay the age of diagnosis of hearing loss and/or require intervention by other professionals. This situation is referred to as "deafness with added disability" (AD+). The reason why the population of hearing-impaired children is more likely to have associated added disabilities is that the risk factors for hearing impairment overlap with those for many other disabilities. These factors can influence various aspects of development, including language acquisition. It is important to check that appropriate care is received, the effectiveness of hearing aids or implants, as well speech therapy intervention strategies, and family adherence to sessions and appointments. The challenge posed by AD+ is early detection, to allow early and appropriate intervention, and the need for fluid transdisciplinary collaboration between all professionals involved, together with the involvement of the family., (Copyright © 2023 Sociedad Española de Otorrinolaringología y Cirugía de Cabeza y Cuello. Published by Elsevier España, S.L.U. All rights reserved.)

Hearing loss and hearing disorders represent possible mediating pathways in the associations between noise exposures and non-auditory health outcomes. In this context, we assessed whether the noise-obesity associations should consider hearing functions as possible mediators and applied Mendelian randomisation (MR) to investigate causal relationships between body constitution and hearing impairments. We obtained genetic associations from publicly available summary statistics from genome-wide association studies in European ancestry adult populations (N= from 210,088 to 360,564) for (i) body constitution: body mass index (BMI), waist circumference (WC) and body fat percentage (BFP), and (ii) hearing loss: sensorineural hearing loss, noise-induced hearing loss, and age-related hearing impairment (ARHI). We employed colocalisation analysis to investigate the genetic associations for BMI and ARHI liability within an FTO locus. We conducted bi-directional MR for the 'forward' (from body constitution to hearing) and 'reverse' directions. We applied the random effects inverse variance-weighted method as the main MR method, with additional sensitivity analyses. Colocalisation analysis suggested that BMI and ARHI shared a causal variant at the FTO gene. We did not find robust evidence for causal associations from body constitution to hearing loss and suggested that some associations may be driven by FTO variants. In the reverse analyses, ARHI was negatively associated with BMI [effect size - 0.22 (95% CI - 0.44 to - 0.01)] and BFP [effect size - 0.23 (95% CI - 0.45 to 0.00)], supporting the notion that ARHI may diminish body constitution. Finally, our data suggest that there is no strong evidence that hearing explains the association between noise exposure and body constitution., (© 2023. The Author(s).)

BACKGROUND Brown-Vialetto-Van Laere (BVVL) syndrome is a rare autosomal recessive disorder caused by mutations in intestinal riboflavin transporter genes, resulting in a motor neuron disorder of childhood, which can be associated with sensorineural deafness. This report describes a 4-year-old Polish girl with progressive hearing loss and delayed speech development diagnosed with Brown-Vialetto-Van Laere syndrome who was treated with riboflavin (vitamin B2) and cochlear implants. CASE REPORT The case report concerns a girl from Poland who, at the age of 2 years 10 months, developed progressive atypical neurological symptoms of unknown etiology: ataxia of the upper and lower limbs, gait abnormalities, generalized muscle weakness, visual and hearing problems, and regression of speech development. A karyotype study (whole-exome sequencing) revealed alterations within SLC52A2, leading to the diagnosis of Brown-Vialetto-Van Laere syndrome and initiation of high-dose riboflavin treatment. As a 4-year-old child, she presented to the Institute of Physiology and Pathology of Hearing - World Hearing Center in Poland with progressive hearing loss and speech regression. Hearing tests revealed bilateral profound sensorineural hearing loss with auditory neuropathy. Surgical treatment was applied in the form of bilateral cochlear implantation. CONCLUSIONS This report shows the importance of genetic testing in infants who present with atypical symptoms or signs. In this case, the diagnosis of Brown-Vialetto-Van Laere syndrome resulted in timely correction of the genetic riboflavin (vitamin B2) deficiency and improved hearing following the use of cochlear implants.

Purpose: Patients with vestibular schwannoma undergoing definitive radiotherapy commonly experience hearing loss due to tumor and treatment effects; however, there is limited data evaluating concurrent medication use and other clinicopathologic factors associated with hearing preservation during and after radiotherapy. We performed a retrospective cohort study reviewing consecutive patients from 2004 to 2019 treated with radiotherapy for vestibular schwannoma at our institution., Methods: Ninety four patients with concurrent medications, baseline audiograms, and post-radiotherapy audiograms available were evaluable. We performed chi-squared analyses of the frequency of various clinicopathologic factors and t-tests evaluating the degree of hearing loss based on audiograms., Results: At a median follow-up of 35.7 months (mean: 46.5 months), the baseline pure-tone average (PTA) of the ipsilateral ear worsened from 38.4 to 59.5 dB following completion of radiotherapy (difference: 21.1, 95% CI 17.8-24.4 dB, p < 0.001). 36 patients (38.3%) reported regular use of cyclooxygenase (COX) inhibitors (including acetaminophen and NSAIDs) during radiotherapy. The mean increase in PTA was significantly higher for patients taking COX inhibitors (25.8 dB vs 18.1 dB, p = 0.024) in the ipsilateral ear but not for the contralateral side. COX inhibitor use remained independently associated with worse PTA in the multivariate analysis., Conclusion: COX inhibitor use during definitive radiotherapy is associated with worse hearing loss in the affected ear but not for the contralateral side. This suggests the ototoxic effects of COX inhibitors may influence the effects of radiotherapy. These results could have clinical implications and warrant further investigation., (© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Background: The etiology of Ménière's disease (MD) is still not completely clear, but it is believed to be associated with endolymphatic hydrops (EH), which is characterized by auditory functional disorders. Vasopressin injection in C57BL/6J mice can induce EH and serve as a model for MD. Optical Coherence Tomography (OCT) has shown its advantages as a non-invasive imaging method for observing EH. Aim Investigating the relationship between hearing loss and EH to assist clinical hearing assessments and indicate the severity of hydrops., Methods: C57BL/6J mice received 50 μg/100g/day vasopressin injections to induce EH. Auditory function was assessed using auditory brainstem response (ABR) and distortion product otoacoustic emissions (DPOAE). OCT was used to visualize the cochlea., Result: OCT observed accumulation of fluid within the scala media in the cochlear apex. ABR showed significant hearing loss after 4 weeks. DPOAE revealed low-frequency hearing loss at 2 weeks and widespread damage across frequencies at 4 weeks., Conclusion: The development of hearing loss in mouse models of MD is consistent with EH manifestations. Significance This study demonstrates the possibility of indirectly evaluating the extent of EH through auditory assessment and emphasizes the significant value of OCT for imaging cochlear structures.

Objective: To analyze the clinical and imaging features of patients with sudden sensorineural deafness and acute cerebral infarction in order to provide evidence for early recognition of such diseases. Methods: This was a case series reporting study. A retrospective analysis was performed on the clinical and imaging data of 29 patients with sudden hearing loss (SHL) who admitted to the Otolaryngology Head and Neck Surgery Department of Beijing Tiantan Hospital from January 2017 to December 2021 and diagnosed with acute cerebral infarction using MRI-DWI. Results: The patients were aged 31-71 years, with an average age of 56±12 years, and 82.8% (24/29) were men. In total, 82.8% (24/29) of the patients had three or more atherosclerotic risk factors, and 24.1% (7/29) had a history of SHL. The hearing types were flat and total deafness: 86.2% (25/29) of the patients had severe hearing loss, 27.6% (8/29) had bilateral SHL, 17.2% (5/29) had further hearing loss during hospitalization, and 82.8% (24/29) had dizziness or vertigo at the onset. The signs of central nervous system involvement mainly included speech impairment, diplopia, dysphagia, central facial paralysis, facial and limb hypoesthesia, ataxia, and decreased muscle strength. Imaging evaluation showed that 21 cases were located in the posterior circulation supply area and 8 cases in the anterior circulation supply area. Additionally, 82.8% (24/29) patients had vertebrobasilar artery stenosis, and 58.6% (17/29) patients had severe vertebrobasilar artery stenosis or occlusion. Conclusions: Patients with SHL who progress to cerebral infarction often have multiple atherosclerotic risk factors and SHL. Most of the patients are middle-aged and older men who often complain of dizziness or dizziness accompanied by severe flat and total deafness with unilateral or bilateral SHL. Imaging findings suggest that most patients have posterior circulation infarction, often accompanied by severe stenosis or occlusion of the vertebrobasilar artery.

Objective: To verify the frequency of risk factors for hearing loss in newborns and their possible associations with universal neonatal hearing screening results before and during the COVID-19 pandemic., Methods: Historical cohort study with data analysis of newborns attended in a reference hearing health service of the Unified Health System (SUS) between January 2017 and December 2021., Results: Those born in 2020 and 2021 were 91% less likely to fail the screening than those born in 2017, 2018, and 2019; therefore, they had a lower percentage of referrals for a retest. There was a decrease in congenital syphilis (1.00%), decrease in HIV (0.95%), and an increase in toxoplasmosis (0.58%) and increase in rubella cases in 2021 in relation to 2017. Syphilis had lower frequency rates during the COVID-19 pandemic (2020-2021)., Conclusion: Newborns born in the pandemic year compared to those born pre-pandemic showed a reduction in the presence of two risk indicators for hearing loss and, consequently, a lower chance of failing the UNHS and a lower percentage of referral for retest., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023 Elsevier B.V. All rights reserved.)

Objective: To identify outcomes in hearing loss (HL) diagnosis and intervention in infants with a failed newborn hearing screen (NBHS) and otitis media with effusion (OME) compared to those with failed NBHS and without OME., Study Design: Retrospective review., Setting: Tertiary medical center., Methods: A chart review was performed on infants referred to Primary Children's Hospital for failed NBHS from 2012 to 2018. Eighty infants with failed NBHS and OME and 55 with failed NBHS and no OME were included. Incidence of permanent HL along with the age of HL confirmation and early intervention (EI) enrollment were compared., Results: The incidence of OME in infants with failed NBHS was 59.3%. Fifty-six percent of infants with OME and 12.5% of those without OME did not receive definitive hearing confirmation in either ear due to loss to follow-up or insufficient audiometric assessment. Permanent HL was identified in 11.3% (n = 9) of infants with OME and in 20.0% (n = 11) of those without OME. Infants with OME were significantly older at the time of HL confirmation (4.2 ± 2.1 months) and EI enrollment (5.4 ± 2.5 months) compared to those without OME at the time of HL confirmation (1.0 ± 1.0 months; p < .001) and EI enrollment (2.6 ± 1.8 months; p = .04)., Conclusion: Infants with failed NBHS and OME are highly susceptible to a significant delay in HL confirmation or lack of confirmatory hearing tests. Timely OME resolution with earlier ventilation tube insertion by 3 months of age and follow-up audiologic assessment is recommended., (© 2023 American Academy of Otolaryngology-Head and Neck Surgery Foundation.)

Objectives: Military personnel are exposed to multiple risk factors for hearing loss, particularly on the battlefield. The objective of this study was to determine whether pre-existing hearing loss predicted hearing threshold shift in male U.S. military personnel following injury during combat deployment., Design: This was a retrospective cohort study with 1573 male military personnel physically injured in Operations Enduring and Iraqi Freedom between 2004 and 2012. Audiograms before and after injury were analyzed and used to calculate significant threshold shift (STS), defined as a 30 dB or greater change in the sum of hearing thresholds at 2000, 3000, and 4000 Hz in either ear on the postinjury audiogram, relative to the same frequencies on the preinjury audiogram., Results: Twenty-five percent (n = 388) of the sample had preinjury hearing loss, which mostly occurred in the higher frequencies (i.e., 4000 and 6000 Hz). The prevalence of postinjury STS ranged from 11.7% to 33.3% as preinjury hearing level moved from better to worse. In multivariable logistic regression, preinjury hearing loss was a predictor of STS, and there was a dose-response relationship between severity of preinjury hearing threshold and postinjury STS, specifically for preinjury hearing levels of 40 to 45 dBHL (odds ratio [OR] = 1.99; 95% confidence interval [CI] = 1.03 to 3.88), 50 to 55 dBHL (OR = 2.33; 95% CI = 1.17 to 4.64), and >55 dBHL (OR = 3.77; 95% CI = 2.25 to 6.34)., Conclusions: These findings suggest that better preinjury hearing provides increased resistance to threshold shift than impaired preinjury hearing. Although STS is calculated using 2000 to 4000 Hz, clinicians must closely attend to the pure-tone response at 6000 Hz and use this test frequency to identify service members at-risk for STS prior to combat deployment., Competing Interests: The authors have no conflicts of interest to disclose. This work was supported by the U.S. Navy Bureau of Medicine and Surgery under work unit no. 60808., (Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.)

Objective: This study evaluates the natural course of hearing loss (HL) prior to treatment in patients with progressive tumors and an indication for active intervention. Evaluating this patient group specifically can put hearing outcomes after vestibular schwannoma therapy into an adequate context., Study Design: Retrospective cohort study., Setting: Tertiary referral center., Methods: Inclusion criteria comprised unilateral vestibular schwannomas prior to active treatment, with ≥2 mm extracanalicular (EC) tumor growth and ≥2 audiograms. We performed a comprehensive assessment of hearing using multiple outcome parameters including (the annual decrease in) pure-tone averages (PTAs; an average of 0.5, 1, 2, and 3 kHz). Predictors for HL were evaluated (patient age, tumor size/progression, follow-up duration, baseline hearing)., Results: At presentation, 86% of patients suffered from sensorineural HL on the affected side (≥20 dB PTA) with a median of 39 dB (interquartile rate [IQR]: 27-51 dB). The median follow-up duration was 21 months (IQR: 13-34 months), after which 58% (187/322) of patients experienced progressive HL (≥10 dB), with a median increase of 6.4 dB/year. At the last follow-up, the median PTA was 56 dB (IQR: 37-73). Median speech discrimination scores deteriorated from 90% (IQR: 70%-100%) to 65% (IQR: 35%-100%). Tumor progression (maximal EC diameter) was significantly correlated to the progression of sensorineural HL, corrected for follow-up (F(2,228) = 10.4, p < .001, R 2  = 8%)., Conclusion: The majority of patients (58%) with radiologically confirmed progressive vestibular schwannomas experience progressive sensorineural HL during observation. Tumor progression rate, EC tumor extension, and longer follow-up are factors associated with more sensorineural HL., (© 2023 American Academy of Otolaryngology-Head and Neck Surgery Foundation.)

Objective: Infants diagnosed with a conductive hearing loss (CHL) are at increased risk of developmental delays. Using a sample of infants diagnosed with CHL through UNHS, this study aimed to investigate the relationship between specific demographic or clinical characteristics and 1) occasions of service to reach a hearing diagnosis and 2) the profile of CHL., Methods: Retrospective analysis was conducted for all infants with CHL born between 01/01/2007 and 31/12/2018 who had received UNHS. Chi squared analysis was conducted on data from 1208 records., Results: Infants with ≥1 risk factor for hearing loss were more likely to attend more than three occasions of service. Infants who were bilateral refer/medical exclusion, Torres Strait Islander, had ≥1 risk factors for hearing loss or were born pre-term had greater proportions of bilateral CHL than unilateral CHL. Mild to moderate was the most frequent degree of CHL, although a unilateral or bilateral CHL did not have an association with the severity of CHL. Compared to other risk factors, infants with a syndrome had greater proportions of bilateral than unilateral CHL. Risk factors of craniofacial abnormality, prolonged ventilation, or syndrome had greater proportions of mild to moderate CHL than moderate or greater. On average, infants were diagnosed with a CHL at 37.29 weeks of age., Conclusion: These findings highlight the relationship between clinical/demographic characteristics and occasions of service to diagnose CHL in children, including the CHL profile. An understanding of this relationship may help clinicians to better plan, assess and manage infants diagnosed with a CHL through UNHS., Competing Interests: Declaration of competing interest None., (Copyright © 2023 Elsevier B.V. All rights reserved.)

Purpose: The effect of hearing aids (HAs) and educational counseling (EC) or their combination on tinnitus is ambiguous. This study aimed to investigate whether the combined use of HAs and EC is more effective than EC alone on tinnitus relief., Method: A total of 72 adults with chronic, bothersome tinnitus and coexisting sensorineural hearing loss completed at least 1-month and 3-month follow-up. After receiving EC and HA prescriptions, 21 participants selected to purchase HAs (i.e., the HA + EC group), whereas the remaining 51 refused to use HAs despite recommendations (i.e., the EC group). Tinnitus severity was measured by Tinnitus Handicap Inventory (THI), Tinnitus Evaluation Questionnaire (TEQ), and Visual Analog Scale (VAS) for loudness. The primary outcome measure was THI, and tinnitus relief was defined as a 20-point or more reduction in THI. A generalized linear mixed model was used to confirm that the heterogeneity in baseline characteristics between groups did not interfere with the results., Results: The THI, TEQ, and VAS scores decreased significantly after treatments, and both groups yielded a similar trend of reduction. There were no significant differences in the incidence of tinnitus relief and time-to-event curves between the two groups. In addition, the length of follow-up did not affect treatment effectiveness., Conclusion: There was insufficient evidence to support the superiority of the combined use of HA and EC for tinnitus over EC with no device.

Objective: To identify if migraine is associated with auditory deficits and if the auditory profile of migraine is distinct from other pain syndromes, such as chronic pain., Study Design: Cross-sectional, retrospective., Setting: A total of 5273 respondents of the 1999 to 2004 National Health and Nutrition Examination Survey., Methods: Regression analyses assessed the association between migraine (n = 1245) and chronic pain (n = 430) status with subjectively endorsed hearing loss, tinnitus, pure-tone average (PTA) at 500, 1000, 2000, and 4000 Hz, and subjective-audiometric hearing mismatch (endorsed hearing loss but with a PTA ≤ 25 dB), correcting for confounding factors., Results: Migraine was associated with increased tinnitus (adjusted odds ratio [aOR] = 1.77, 95% confidence interval [CI]: 1.47-2.13, p < .001) and subjective hearing loss (aOR = 1.58, 95% CI: 1.29-1.94, p < .001). Migraine was associated with higher PTA (β = .89, p = .023). Migraine decreased the PTA threshold at which individuals endorsed subjective hearing loss (β = -1.94, p = .013) and was associated with a more subjective-audiometric hearing mismatch (aOR = 1.50, 95% CI: 1.18-1.89, p < .001). Chronic pain was not associated with tinnitus (aOR = 1.26, 95% CI: 0.97-1.63, p = 0.079), subjective hearing loss (aOR = 0.94, 95% CI: 0.71-1.23, p = .64), changes in PTA (β = -.22, p = .69), altered PTA threshold for endorsing hearing loss (β = 1.40, p = .19), or subjective-audiometric hearing mismatch (aOR = 0.98, 95% CI: 0.70-1.34, p = .88)., Conclusion: Migraine is associated with both worse pure-tone audiometry and higher sensitivity to changes in hearing ability, suggesting both peripheral and central auditory function abnormalities. In contrast, patients with chronic pain did not demonstrate these abnormalities. The etiology of abnormal auditory processing in migraine may be different from that of other pain syndromes., (© 2023 American Academy of Otolaryngology-Head and Neck Surgery Foundation.)

Objectives: To assess the knowledge and attitudes of 150 female caregivers in Samoa to childhood hearing loss and hearing services, and to compare findings between urban (n = 100) and rural-dwelling (n = 50) caregivers., Methods: A semi-structured interview using a 26-item questionnaire was administered to participants in the Samoan language. Participants were required to respond "yes", "no", or "unsure"., Results: Highest awareness of aetiology of childhood hearing loss was found for otitis media (88.7%), followed by noise exposure (64.7%) and family history (38%). Highest awareness of public health measures that may prevent/reduce otitis media was found for routine childhood immunizations (74.7%) and breast-feeding for first 6 months of life (69.3%). Overall, 40% of Samoan caregivers agreed that curses may cause childhood hearing loss. There was overwhelming support for community-based hearing services for newborns/infants (98%) and school students (97.3%)., Conclusions: There is positive support for community-based hearing health services for children among female caregivers of Samoa. There was high awareness of otitis media as a major cause of childhood hearing loss, as well as good knowledge of public health measures that reduce/minimise the risk of otitis media., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023 Elsevier B.V. All rights reserved.)

Acromegaly is a multifactorial neuroendocrine disease caused by hyperproduction of growth hormone (GH). In more than 95% of cases the reason of acromegaly the GH-secreting pituitary adenoma. In patients with this neuroendocrine disease, a slowly developing complex of symptom can manifest with concomitant pathological conditions, including auditory function disordersDiagnostic difficulties of acromegaly at the ambulatory stage determine the importance of doctor`s awareness in different medical specialties.Here we demonstrate a clinical case of the improvement of the auditory function due to combined surgical and medical treatment of a patient with the pituitary macroadenoma, acromegaly and hearing loss.Anamnesis features: a patient with an active stage of acromegaly and a pituitary macroadenoma measuring 57x35x32 mm with ante-, supra-, infra-, parasellar spread, (Knosp III(D), Knosp IV(S) noted a violation of auditory function. She was consulted by an otolaryngologist, sensorineural hearing loss on the right of the 3rd degree was diagnosed, on the left of the 1st degree. The patient underwent surgical treatment of pituitary adenoma, noted a significant improvement in auditory function in the early postoperative period. Six months later, repeated audiometry was performed, marked regression of hearing damage was noted.The case described by us indicates the reversibility of a rare complication of acromegaly - hearing loss and the importance of an interdisciplinary approach in the management of patients with this pathology.

Background: Temporal bone fractures are divided into otic capsule sparing and otic capsule involving fractures. In the latter, hearing loss, facial nerve paralysis, cerebrospinal fluid leak and meningitis have been reported to occur. The impact of hearing loss can be devastating, especially when occurring in children, with significant risk to speech development and sound localization. In the event of hearing loss, early rehabilitation is therefore of paramount importance. Identification of an intra-operative fracture line with available images and the outcome of such cases has not been reported., Case Presentation: We present the case of a 31-month-old male with an otic capsule involving temporal bone fracture, who presented with ipsilateral profound hearing loss. After all required work-up had been performed, he was admitted for a cochlear implant insertion. Per- operatively, a clear fracture line was seen at the round window niche, but a normal insertion was performed despite the anticipated potential ossification at the fracture line. The dreaded complications of cerebrospinal fluid otorrhea or non-auditory stimulation post-implant did not occur. The peculiarity of this case was its rarity, which was demonstrated by clear images that showed the fracture line on preoperative imaging and intraoperatively., Conclusion: Cochlear implantation in the presence of a visible fracture line is feasible and the surgical procedure must not be aborted at its discovery. In these cases, post-operative bacterial meningitis can occur and should be treated aggressively with systemic antibiotics to avoid contralateral ossification of the labyrinth due to labyrinthitis., (© 2023. The Author(s).)

Background: Although several studies have been conducted to assess the association between hearing loss (HL) and trauma, no studies have analyzed trauma comprehensively based on population-based data., Objectives: To investigate the association between HL and trauma in daily life using National Health Insurance Service National Sample Cohort data of Korea., Materials and Methods: People who were registered with severe or mild hearing disability by the Korean government from 2002 to 2015, were included in this study. Trauma was defined as an outpatient visit or admission under diagnostic codes associated with trauma. The risk for trauma was analyzed using multiple logistic regression model., Results: There were 5,114 subjects in the mild hearing disability group and 1,452 in the severe hearing disability group. The risk for trauma was significantly higher in the mild and severe hearing disability groups than in the control group. The risk was higher in the mild hearing disability group than in the severe hearing disability group., Conclusions and Significance: Individuals with hearing disability are at a higher risk for trauma based on population-based data in Korea, which indicates that HL increases the risk for trauma.

Maternally inherited diabetes and deafness (MIDD) is a rare diabetic syndrome mainly caused by a point mutation in the mitochondrial DNA. It affects up to 1% of patients with diabetes but is often unrecognized by physicians. We report a case of MIDD in a 29-year-old man with coexisting imaging of cerebellar vermis hypoplasia and bilateral basal ganglia calcification., (© 2022. Fondazione Società Italiana di Neurologia.)

Objective: To investigate the diagnostic yield of targeted next-generation sequencing using hearing loss panels and to identify patient-related factors that are associated with a definite genetic cause., Study Design: Retrospective chart review., Setting: Tertiary referral center., Patients: Children with congenital or late-onset, bilateral sensorineural hearing loss., Interventions: Diagnostic., Main Outcome Measures: The number of patients with a definite genetic diagnosis., Results: We report on 238 patients with hearing loss: 130 were male and 108 were female. About 55% had congenital hearing loss. A genetic cause was identified in 94 of the patients (39.5%), with 72.3% of these showing nonsyndromic and 27.6% showing syndromic hearing loss. The diagnostic yield was highest among North African patients (66.7%). A multiple linear regression model shows that profound hearing loss, family history of hearing loss, congenital hearing loss, and North African ethnicity are significantly related to identifying a genetic cause., Conclusions: Targeted next-generation sequencing using a panel of hearing loss genes identified a genetic diagnosis in almost 40% of children with bilateral sensorineural hearing loss. We describe the predictors of a genetic diagnosis, and this information may be used during genetic counseling., Competing Interests: The authors disclose no conflicts of interest., (Copyright © 2023, Otology & Neurotology, Inc.)

Vertigo due to vestibular dysfunction is rare in children. The elucidation of its etiology will improve clinical management and the quality of life of patients. Genes for vestibular dysfunction were previously identified in patients with both hearing loss and vertigo. This study aimed to identify rare, coding variants in children with peripheral vertigo but no hearing loss, and in patients with potentially overlapping phenotypes, namely, Meniere's disease or idiopathic scoliosis. Rare variants were selected from the exome sequence data of 5 American children with vertigo, 226 Spanish patients with Meniere's disease, and 38 European-American probands with scoliosis. In children with vertigo, 17 variants were found in 15 genes involved in migraine, musculoskeletal phenotypes, and vestibular development. Three genes, OTOP1 , HMX3 , and LAMA2 , have knockout mouse models for vestibular dysfunction. Moreover, HMX3 and LAMA2 were expressed in human vestibular tissues. Rare variants within ECM1 , OTOP1 , and OTOP2 were each identified in three adult patients with Meniere's disease. Additionally, an OTOP1 variant was identified in 11 adolescents with lateral semicircular canal asymmetry, 10 of whom have scoliosis. We hypothesize that peripheral vestibular dysfunction in children may be due to multiple rare variants within genes that are involved in the inner ear structure, migraine, and musculoskeletal disease.

Objective: To investigate the etiology, diagnosis and treatment of noninflammatory conductive hearing loss in children. Methods: The clinical data of children patients admitted to the Eye & ENT Hospital of Fudan University from January 2019 to November 2022 were retrospectively analyzed. Results: A total of 179 cases（189 ears） were analyzed. The main symptoms from high to low were: ear tightness, hearing loss, earache, and facial paralysis. The degree of hearing loss was mild in 34 ears（19.5%）, moderate in 70 ears（40.2%）, moderate-severe in 52 ears（29.9%）, severe in 18 ears（10.3%）. The mean hearing threshold of otosclerosis was the highest（63.5±7.8） dB HL, and the mean air-bone gap of ossicular chain malformation was the largest（35.4±9.8） dB HL. The mean hearing threshold of the affected ear was（50.4±14.5） dB HL, and the mean air bone gap was（30.3±10.4） dB HL. After operation, the results were（36.1± 14.5） dB HL and（20.0±8.6） dB HL, respectively. Distribution of surgical methods for ossicular chain reconstruction: 88 ears（46.6%） of TORP, 49 ears（25.9%） of PORP, 8（4.2%） ears of Piston, 9 ears（4.8%） of autogenous ossicular reconstruction, and 35 ears（18.5%） of ossicular chain relaxation. CT diagnostic rate showed more sensitivity to malleus and incus abnormalities, the diagnosis rate of congenital middle ear cholesteatoma was the highest. The mean duration time of diagnosis was（2.2±2.9） years, while the diagnosis of ossicular chain malformation（[5.2±4.2]years）, otosclerosis（[4.4±4.1]years）, tympanosclerosis（[5.4±0.9]years） took longer. Conclusion: In the diagnosis and treatment of noninflammatory conductive hearing loss in children, the combination of detailed medical history, specialized examination and imaging examination can maximize the accuracy of diagnosis and achieve the purpose of personalized comprehensive treatment. Surgical intervention with appropriate timing is important to remove lesions and improve hearing., Competing Interests: The authors of this article and the planning committee members and staff have no relevant financial relationships with commercial interests to disclose., (Copyright© by the Editorial Department of Journal of Clinical Otorhinolaryngology Head and Neck Surgery.)

Objectives: To examine the association between tinnitus and hearing outcomes among US military personnel after blast injury, including any hearing loss, low-frequency hearing loss, high-frequency hearing loss, early warning shift, and significant threshold shift., Design: In this retrospective study, the Blast-Related Auditory Injury Database was queried for male military service members who had audiometric data 2 years before and after blast injury between 2004 and 2012 with no history of hearing loss or tinnitus before injury (n = 1693). Tinnitus was defined by diagnostic codes in electronic health records. Multivariable logistic regression examined the association between tinnitus and hearing outcomes, while adjusting for covariates., Results: Overall, 14.2% (n = 241) of the study sample was diagnosed with tinnitus within 2 years after blast injury. The proportions of all examined hearing outcomes were higher among service members with tinnitus than those without ( p < 0.001). In multivariable analysis, service members with tinnitus had higher adjusted odds of any hearing loss (odds ratio [OR] = 1.72, 95% confidence interval [CI] = 1.20-2.47), low-frequency hearing loss (OR = 2.77, 95% CI = 1.80-4.26), high-frequency hearing loss (OR = 2.15, 95% CI = 1.47-3.16), early warning shift (OR = 1.83, 95% CI = 1.36-2.45), and significant threshold shift (OR = 2.15, 95% CI = 1.60-2.89) compared with service members without tinnitus., Conclusions: The findings of this study demonstrate that tinnitus diagnosed within 2 years after blast injury is associated with the examined hearing outcomes in US military personnel. Service members with blast injury who subsequently experience tinnitus should receive routine audiometric hearing conservation testing and be carefully examined for poor hearing outcomes by an audiologist., Competing Interests: There are no conflicts of interest., (Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.)

Hand-arm vibration (HAV), which potentially causes vibration white finger (VWF), and occupational noise are serious issues in the agricultural and forestry industries. Generally, agricultural workers operate as single-family/small businesses and thus are exempted from Occupational Safety and Health Administration (OSHA) regulations/laws for noise and HAV otherwise applicable to other industries in general. The agricultural/forestry sectors are at increased risk as working hours are longer than a typical 8-h work shift putting them at greater risk of hearing loss. The study was conducted to assess the possible association between hearing sensitivity on combined exposure to noise and hand-arm vibration. A systematic literature review was conducted on exposure to noise and HAV in the agricultural/forestry sector and the resulting impacts on hearing. The peer-reviewed articles in English were searched with 14 search words in three databases of PubMed, Ergo Abstracts, and Web of Science without any filter for the year for fully available article text. The database literature search resulted in 72 articles. Forty-seven (47) articles met the search criteria based on the title. Abstracts were then reviewed for any relationship between hearing loss and hand-arm vibration/Raynaud's phenomenon/VWF. This left 18 articles. It was found that most agricultural workers and chainsaw workers are exposed to noise and VWF. Hearing is impacted by both noise and aging. The workers exposed to HAV and noise had greater hearing loss than non-exposed workers, possibly due to the additive effect on temporary threshold shift (TTS). It was found that VWF might be associated with vasospasm in the cochlea through autonomous vascular reflexes, digital arteries narrowing, vasoconstriction in the inner ear by noise, ischemic damage to the hair cells and increased oxygen demand, which significantly affects the correlation between VWF and hearing loss.

Conscripts are exposed to various sources of impulse noise despite hearing protection recommendations. The aim of this study was to investigate the frequency of acute acoustic trauma (AAT) among conscripts after exposure to assault rifle noise in the Finnish Defence Forces (FDF). This nationwide population-based cohort comprised all conscripts (>220,000) in the FDF during the years 1997-2003 and 2008-2010. We included those who claimed to have AAT symptoms from assault rifle noise during the study periods. During the investigated 10 years, 1617 conscripts (annual variation, 75-276) experienced a new hearing loss due to AAT. Altogether, 1456 (90%) of all AAT-induced hearing losses were caused by rifle-caliber weapons and 1304 (90%) of them when firing a blank cartridge. There was no clear diminishing trend in the annual numbers of AATs. In 1277 (88%) incidents, no hearing protector was used. Tinnitus was the most prominent symptom. Hearing losses after AAT were typically mild, but serious deficits also occurred. In conclusion, we found that 0.7-1.5% of the conscripts experienced an AAT during their service in the FDF. Most incidents occurred when firing a blank cartridge with a rifle-caliber weapon and with no hearing protector in use.

Introduction: Congenital unilateral sensorineural hearing loss (cuSNHL) carries potentially significant social, educational, and developmental consequences. Early diagnosis enables investigation, and consideration of options for management and early intervention, helping to mitigate the effects of hearing loss. Cochlear nerve dysplasia (CND) is a prominent cause of cuSNHL and may affect candidacy for cochlear implantation. Socioeconomic disadvantage may impact on a patient's family's capacity to participate in necessary intervention and follow-up., Methods: Infants with severe-profound cuSNHL referred to a large Australian quaternary pediatric center between October 2004 and December 2020 were retrospectively included. Audiometric and clinical data, and the presence of hearing loss risk factors were obtained from a prospectively collated database. In Australia MRI scans are provided free-of-charge to citizens and residents. MRI scans were reviewed to determine the status of the nerves within the internal acoustic meatus (IAM grade) along with attendance rates. Travel distance to the hospital was also calculated. Reasons for non-attendance at MRI were obtained from patient medical records and correspondence. Socioeconomic, educational, and occupational indices, and travel distances were obtained using patient residential postcodes with reference to Australian Bureau of Statistics data., Results: A total of 98 patients were reviewed, 64.3% (n = 63) of whom underwent MRI. The median age at diagnosis was 40 days (IQR 27). The prevalence of CND was 75% (n = 47). Importantly, there was no significant difference in the degree of hearing loss between IAM grades (F(4,57) = 1.029, p = 0.405). Socioeconomic indices were significantly lower in patients not attending MRI investigations compared with patients who did attend. Travel distance was not significantly different between the two groups., Conclusion: CND is a prominent cause of cuSNHL in Australian infants. MRI at a young age allows parent education regarding management options and timely intervention where indicated. Socioeconomic disadvantage significantly impacts on participation in further routine assessment of cuSNHL, potentially limiting management options for these children long term., Competing Interests: Declaration of competing interest The authors have no competing interests to declare., (Copyright © 2023 Elsevier B.V. All rights reserved.)

Objectives: The prevalences of pediatric obesity and its associated comorbidities such as metabolic syndrome (metS) are rising. The aim of this study was to evaluate the association of metS status with sensorineural hearing loss in pediatric obese patients., Methods: A two-center observationalprospective study was designed. In this study, 252 consecutive treatment-naive pediatric obese patients aged 5.8-17.8 yr in a tertiary pediatric Endocrinology outpatient clinic were prospectively enrolled. Following standard clinical and biochemical evaluations, the obese patients were diagnosed as having metabolic syndrome (metS) or not according to Internetional Diabetes Federation Criteria. All the patients were evaluated with tympanometry and pure tone audiometry tests after otomicroscopic examination. Comparative analyses of audiometric evaluations were performed between metS+ and metS- subgroups of the obese patients., Results: The median age of the patients was 12.5 yr (range: 6.0-17.8 yr) and 56.3% of the patients were male. Metabolic syndrome was diagnosed in 82 (32.5%) patients. Age, gender distribution, history of the ventilation tube, and pubertal stage of the metS + patients and metS- counterparts were not statistically different (p > 0.05 for all). Pure tone hearing thresholds at all frequencies (125, 250, 500, 1k, 2k, 4k, 8k) were significantly higher in the metS + group then the metS- group (p˂0.05 for all). The tympanometry results were not statistically different between the two groups (p˃0.05). Abdominal obesity, hypertension, fasting hyperglycemia and dyslipidemia were not associated with increased hearing thresholds in metS + patients (p˃0.05 for all)., Conclusion: Metabolic syndrome was associated with increased rates of subclinical hearing loss in our cohort. None of the investigated metS components emerged as a positive association with hearing loss in our cohort. Longitudinal follow-up of our cohort may help probe the causality of the association we found., Competing Interests: Declaration of competing interest No conflict of interest was declared by the authors., (Copyright © 2023 Elsevier B.V. All rights reserved.)

Objective: Congenital cytomegalovirus (cCMV) infection in infants leads to an increased risk of developing sensorineural hearing loss (SNHL), even if they are asymptomatic at birth. There are currently no national guidelines for universal screening for CMV, placing children with cCMV at a high risk for unidentified and untreated HL, which in turn places them at greater risk for lasting impacts on quality of life and cognitive and behavioral abilities. We sought to describe the sociodemographic and hearing loss characteristics of children with HL due to cCMV., Design: We performed a retrospective cohort study of patients 0-18 years of age who completed CMV dried blood spot (DBS) testing in our HL clinic before April 1, 2022. Home ZIP codes were entered into the Healthy Places Index (HPI) database to quantify the health of the community in which the patient lived. Severity of HL was determined by pure tone averages (PTA) of hearing thresholds for frequencies of 500Hz, 1000Hz, 2000Hz, and 4000Hz. Progression was defined as those who referred on newborn hearing screen and then had a >15 dB increase in PTA, and those who passed newborn hearing screen and were found to have HL later in life. Logistic regression was used to compare variables., Results: Of 365 children who received a CMV DBS test, 15 (4%) had a positive test, indicating the presence of cCMV infection, and 350 (96%) had a negative test. 192 (53%) were male, 212 (58%) were URM, 202 (55%) had public insurance, the median number of ICD-10 codes was 2 (range 0-53), and the median HPI percentile score was 71.2 (range: 3.4-99.9). Although CMV DBS testing was ordered for those with suspicion of SNHL, ultimately diagnostic testing found 333 (91%) with SNHL, 4 (1%) with CHL, 13 (4%) with mixed HL, 9 (3%) with auditory neuropathy spectrum disorder, and 5 (4%) with unspecified HL, and 11 (3%) without HL. Of the 353 patients with HL, 126 (36%) had unilateral, 156 (44%) had symmetric bilateral, and 71 (20%) had asymmetric bilateral HL; 183 (52%) had progressive and 138 (39%) had stable HL. In children with SNHL (n = 333), we tested the association of socio-demographic and audiologic factors with cCMV. Those with asymmetric bilateral SNHL (OR 5.19, 95% CI 1.81-14.90) or profound SNHL (>90 dB) in either ear (OR 13.91, 95% CI 3.82-50.67) had higher odds of having cCMV. Those with symmetric bilateral SNHL had lower odds of a positive CMV DBS test result (OR 0.17, 95% CI 0.02-0.76). All sociodemographic variables, medical comorbidities, and other audiologic variables were not associated with CMV DBS test results., Conclusion: Congenital CMV infection is associated with asymmetric bilateral and profound SNHL. More research is warranted to determine best practices for universal screening for cCMV to identify these children., (Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.)

Hearing loss has been associated with individual cardiovascular disease (CVD) risk factors and, to a lesser extent, CVD risk metrics. However, these relationships are understudied in clinical populations. We conducted a retrospective study of electronic health records to evaluate the relationship between hearing loss and CVD risk burden. Hearing loss was defined as puretone average (PTA 0.5,1,2,4 ) > 20 dB hearing level (HL). Optimal CVD risk was defined as nondiabetic, nonsmoking, systolic blood pressure (SBP) < 120 and diastolic (D)BP < 80 mm Hg, and total cholesterol < 180 mg/dL. Major CVD risk factors were diabetes, smoking, hypertension, and total cholesterol ≥ 240 mg/dL or statin use. We identified 6332 patients (mean age = 62.96 years; 45.5% male); 64.0% had hearing loss. Sex-stratified logistic regression adjusted for age, noise exposure, hearing aid use, and body mass index examined associations between hearing loss and CVD risk. For males, diabetes, hypertension, smoking, and ≥ 2 major CVD risk factors were associated with hearing loss. For females, diabetes, smoking, and ≥ 2 major CVD risk factors were significant risk factors. Compared to those with no CVD risk factors, there is a higher likelihood of hearing loss in patients with ≥ 2 major CVD risk factors. Future research to better understand sex dependence in the hearing loss-hypertension relationship is indicated., (© 2023. The Author(s).)

Meniere's disease (MD) is one of the most complicated diseases in the otologic clinic. The complexity of MD is partially due to the multifactorial etiological mechanisms and the heterogenous symptoms, including episodic vertigo, hearing loss, aural fullness and tinnitus. As a result, the diagnosis of MD and differentiating MD from other diseases with similar symptoms, such as vestibular migraine (VM), is challenging. In addition, it is difficult to predict the progression of hearing loss and the frequency of vertigo attacks. Detailed studies have revealed that functional markers, such as pure tone audiometry (PTA), electrocochleography (ECochG), vestibular evoked myogenic potential (VEMP), caloric test, video head impulse test (vHIT) and magnetic resonance imaging (MRI) could help to evaluate MD with different hearing levels and frequency of vertigo attacks. Investigations of molecular markers such as autoimmunity, inflammation, protein signatures, vasopressin and circadian clock genes in MD are still underway. This review will summarize these functional and molecular markers, address how these markers are associated with hearing loss and vertigo attacks in MD, and analyze the results of the markers between MD and VM.

Objective: To clarify the long-term characteristics of tinnitus following treatment of sudden deafness and its long-term physical and mental effects on patients. Methods: A retrospective analysis was performed on 88 patients (46 males and 42 females; Age from 11 to 89 years) with sudden deafness treated in Department of Otoscope Surgery of Peoples's Libration Army General Hospital in Beijing from April 2020 to January 2021, and the occurrence of tinnitus and treatment effect of all patients were analyzed. Follow-up was conducted for patients with residual tinnitus after treatment for more than 1 year by the investigation and filling in the survey information collection form, Tinnitus Evaluation Questionnaire (TEQ) and Tinnitus Handicap Inventory (THI). Descriptive statistics and SPSS 22.0 software were used for statistical data analysis. Results: In this study, 93.2% (82/88) of patients with sudden deafness were accompanied by tinnitus at the onset, and the proportion of long-term tinnitus after treatment was 90.2% (74/82). After 1 year of treatment for sudden deafness, the improvement of tinnitus was significant in low-frequency sudden deafness compared with those of high-frequency, flat and total deafness sudden deafness (χ2 value was 6.801, 4.568 and 4.038, all P <0.05). In patients with residual tinnitus, 9 (12.2%) patients felt minimal loudness or even no loudness, 34 (46.0%) patients felt slight loudness, 28 (37.8%) patients felt tinnitus was relatively loud, and 3 (4.1%) patients felt tinnitus was loud or noisy. Nine (12.2%) patients's sleep was often affected, 41 (55.4%) patients's sleep was sometimes affected, 9 (12.2%) patients's sleep was rarely affected, 15 (20.3%) patients's sleep was almost not affected. Twenty-eight (37.8%) patients basically completely adapted to tinnitus and 46 (62.2%) patients did not completely adapted to residual tinnitus. Eight (10.8%) patients had no impact on life, 39 (52.7%) patients had slight impact, 22 (29.7%) patients had moderate impact, and the other 5 (6.8%) patients had greater impact. According to tinnitus evaluation questionnaire(TEQ), there were 12 cases (16.2%) of grade Ⅰ, 26 cases (35.1%) of grade Ⅱ, 28 cases (37.8%) of grade Ⅲ, 7 cases (9.5%) of grade Ⅳ and 1 case (1.4%) of grade Ⅴ. According to tinnitus handicap inventory(THI), tinnitus disability was classified into grade Ⅰ, 22 cases (29.7%), grade Ⅱ, 14 cases (18.9%), Grade Ⅲ, 27 cases (36.5%) and grade Ⅳ, 11 cases (14.9%). Conclusion: The rate of residual tinnitus following treatment of sudden deafness is high. Some of the patients can completely adapt residual tinnitus after one year, but some of them will be affected when sleep, work and study. Residual tinnitus can lead to tinnitus disability in different degrees.