Inflammatory diet, gut microbiota and sensorineural hearing loss: a cross-sectional and Mendelian randomization study.

Aims: Inflammatory diets can trigger chronic inflammation and affect gut microbiota. However, the relationship between dietary preferences and sensorineural hearing loss (SNHL) remains unclear. This study aims to elucidate the relationship between different dietary preferences and sensorineural deafness. Methods: The Dietary Inflammation Index (DII) and SNHL were defined by data from the National Health and Nutrition Examination Survey (NHANES), and exploring their relationship. Using Mendelian randomization (MR) to analyze the relationship between 34 dietary preferences, 211 gut microbiota, and SNHL. Results: Smooth curve fitting indicated that the risk of SNHL increased with increasing DII score when the DII score was greater than 5.15. MR results suggest that a diet including both oily and non-oily fish can substantially reduce the risk of SNHL. Additionally, six specific gut microbiota were found to have significant causal relationship with SNHL. Conclusion: An inflammatory diet may increase the risk of developing SNHL. The observed relationship between fish consumption, gut microbiota, and SNHL suggests the existence of a gut-inner ear axis.

Automated segmentation of clinical CT scans of the cochlea and analysis of the cochlea's vertical profile.

Purpose: Knowledge of the cochlear anatomy in individual patients is helpful for improving electrode selection and placement during cochlear implantation, as well as in surgical planning. The aim of this study was to develop a model-free automated segmentation algorithm to obtain 3D surfaces from clinical computed tomography (CT) scans that describe an individual's cochlear anatomy and can be used to quantitatively analyze the cochlea's vertical trajectory. Methods: Clinical CT scans were re-oriented and re-sliced to obtain mid-modiolar slices. Using these slices, we segmented the cross-section of the cochlea. Results: 3D surfaces were obtained for the first 1.5 turns of 648 cochleae. Validation of our algorithm against the manually segmented ground truth obtained from 8 micro-CT scans showed good agreement, with 90 % area overlap and an average distance of 0.11 mm between the segmentation contours. The average cochlear duct length for the basal turn was 16.1 mm along the central path and 22.4 mm along the outer wall. The use of an intrinsic, observer-independent coordinate system and principal component analysis enabled unambiguous quantitative evaluation of the vertical trajectory of the cochlea, revealing only a weak correlation between the symmetry of the commonly used basal turn diameters (B-ratio of A and B diameters) and the profile of the vertical trajectory. Conclusion: A model-free segmentation algorithm can achieve similar accuracy as previously published methods relying on statistical shapes. Quantitative analysis of the vertical trajectory can replace the categorization into rollercoaster, sloping, or intermediate vertical trajectory types.

Effects of dance sports exercise on vestibular function and balance of children with sensorineural hearing loss; a randomized quasi-experimental trial.

Background: Sensorineural hearing loss (SNHL) children have difficulty living and limited movement due to impaired vestibular function and reduced balance ability. Objectives: The present study evaluated the effects of Latin dance training on the vestibular function and balance of SNHL children. Methods: Thirty SNHL children with no difference in vestibular function and balance ability were randomly divided into two groups, the Latin dance training group (LTG, n = 15) and the control group (CONG, n = 15). Vestibular function, timed eyes-closed static (ECS) and functional reach test (FRT) were measured before and after the intervention, and a two-way repeated-measures analysis of variance was performed. Results: After training, the vestibular function performance of LTG was higher than that of CONG (CONG: 16.425 ± 3.616 vs. LTG: 12.241 ± 2.610, p = 0.0411, ES = 1.3914), the left foot ECS performance of LTG was higher than that of CONG (CONG: 2.765 ± 0.872 vs. LTG: 4.688 ± 1.113, p = 0.0026, ES = 1.9857), the right foot ECS performance of LTG was higher than that of CONG (CONG: 3.113 ± 0.639 vs. LTG: 4.797 ± 1.071, p = 0.0137, ES = 2.01), the FRT performance of LTG was higher than that of CONG (CONG: 32.009 ± 6.134 vs. LTG: 43.797 ± 6.616, p = 0.0021, ES = 1.9135). Conclusions: After Latin dance training, SNHL children improved vestibular function and balance. The static balance ability of the left foot has been improved significantly than right foot.

Effects of Castanopsis echinocarpa on Sensorineural Hearing Loss via Neuronal Gene Regulation.

Sensorineural hearing loss (SNHL), characterized by damage to the inner ear or auditory nerve, is a prevalent auditory disorder. This study explores the potential of Castanopsis echinocarpa (CAE) as a therapeutic agent for SNHL. In vivo experiments were conducted using zebrafish and mouse models. Zebrafish with neomycin-induced ototoxicity were treated with CAE, resulting in otic hair cell protection with an EC50 of 0.49 µg/mL and a therapeutic index of 1020. CAE treatment improved auditory function and protected cochlear sensory cells in a mouse model after noise-induced hearing loss (NIHL). RNA sequencing of NIHL mouse cochleae revealed that CAE up-regulates genes involved in neurotransmitter synthesis, secretion, transport, and neuronal survival. Real-time qPCR validation showed that NIHL decreased the mRNA expression of genes related to neuronal function, such as Gabra1, Gad1, Slc32a1, CaMK2b, CaMKIV, and Slc17a7, while the CAE treatment significantly elevated these levels. In conclusion, our findings provide strong evidence that CAE protects against hearing loss by promoting sensory cell protection and enhancing the expression of genes critical for neuronal function and survival.

[Late-onset hereditary hearing loss caused by TMPRSS3 compound heterozygous mutations].

Objective:This study aims to identify the genetic etiology underlying late-onset hearing loss in two unrelated Chinese families. Methods:Detailed clinical data of recruited participants of two families were collected and analyzed using next-generation sequencing, combined with Sanger sequencing and bioinformatics tools. Results:Patients in both families manifested as down-sloping audiograms, mainly with severe mid-to-high frequency hearing loss as well as decreased speech recognition rate, both of which occurred during the second decade. Next-generation sequencing panels succeeded in identifying mutations in gene TMPRSS3, and three heterozygous mutations were screened out, among which c. 383T>C was the first reported mutation. In silico functional analysis and molecular modeling defined the five mutations as "pathogenic" or "likely pathogenic" according to official guideline. Conclusion:The novel mutation combinations in TMPRSS3 gene segregated with an exclusive auditory phenotype in the two pedigrees. Our results provided new data regarding the characteristic deafness caused by TMPRSS3 mutations during adolescent period when hearing should be closely monitored.

Dynamic functional network connectivity in children with profound bilateral congenital sensorineural hearing loss.

BACKGROUND: Functional magnetic resonance imaging (fMRI) studies have revealed extensive functional reorganization in patients with sensorineural hearing loss (SNHL). However, almost no study focuses on the dynamic functional connectivity after hearing loss. OBJECTIVE: This study aimed to investigate dynamic functional connectivity changes in children with profound bilateral congenital SNHL under the age of 3 years. MATERIALS AND METHODS: Thirty-two children with profound bilateral congenital SNHL and 24 children with normal hearing were recruited for the present study. Independent component analysis identified 18 independent components composing five resting-state networks. A sliding window approach was used to acquire dynamic functional matrices. Three states were identified using the k-means algorithm. Then, the differences in temporal properties and the variance of network efficiency between groups were compared. RESULTS: The children with SNHL showed longer mean dwell time and decreased functional connectivity between the auditory network and sensorimotor network in state 3 (P < 0.05), which was characterized by relatively stronger functional connectivity between high-order resting-state networks and motion and perception networks. There was no difference in the variance of network efficiency. CONCLUSIONS: These results indicated the functional reorganization due to hearing loss. This study also provided new perspectives for understanding the state-dependent connectivity patterns in children with SNHL.

Characterization of the components in plasma EVs unveiling the link between EVs-derived complement C3 with the severity and initial treatment response of profound sudden sensorineural hearing loss.

BACKGROUND: Sudden sensorineural hearing loss (SSNHL) is characterized by rapid, unexplained loss of hearing within a 72-hour period and exhibits a high incidence globally. Despite this, the outcomes of therapeutic interventions remain largely unpredictable, especially for those with profound hearing loss. Extracellular vesicles (EVs), nano-sized entities containing biological materials, are implicated in the development of numerous diseases. The specific relationship between EVs and both the severity and treatment effectiveness of SSNHL, however, is not well understood. METHODS: This study involved the analysis of medical records from the Department of Otolaryngology (September 1, 2020 - December 31, 2022) of patients diagnosed with SSNHL according to the 2015 Guidelines for Diagnosis and Treatment of Sudden Deafness in China. Peripheral blood samples from patients with various types of SSNHL before and after treatment were collected, alongside samples from healthy volunteers serving as controls. Plasma EVs were isolated using gel rejection chromatography and analyzed for concentration, marker presence, and morphology using Nanosight, Western blot, and transmission electron microscopy (TEM), respectively. Proteomics and miRNA assessments were conducted to identify differentially expressed proteins and miRNAs in the plasma EVs of SSNHL patients and healthy volunteers. Key proteins were further validated through Western blot analysis. Enzyme-linked immunosorbent assay (ELISA) was utilized to determine the levels of complement C3 in plasma EVs, and correlation analyses were performed with audiological data pre- and post-treatment. RESULTS: Plasma from SSNHL patients of varying types was collected and their EVs were successfully isolated and characterized. Proteomic analysis revealed that complement C3 levels in the plasma EVs of patients with profound SSNHL were significantly higher compared to healthy controls. Differential expression of miRNAs in plasma EVs and their related functions were also identified. The study found that the level of complement C3 in plasma EVs, but not the total plasma complement C3, positively correlated with the severity of SSNHL in patients exhibiting positive therapeutic responses, particularly in those with initially lower levels of EV-associated complement C3. After treatment, complement C3 level was decreased in patients with initially higher levels of EV-associated complement C3. No significant correlation was observed between changes in plasma EV-derived complement C3 levels and the degree of hearing loss in either responders or non-responders among patients with profound SSNHL. CONCLUSION: Differential profiles of proteins and miRNAs were identified in patients with profound SSNHL. Notably, plasma EV-derived complement C3 was linked to both the severity and early treatment effectiveness of patients with profound SSNHL.

Evaluation of automatic cochlear dimension measurement using ALPACA: a comparative study.

BACKGROUND: Cochlear dimension measurements are critical in diagnosing and managing congenital sensorineural hearing loss. OBJECTIVES: To evaluate the feasibility and reliability of an automated landmark approach for measuring cochlear dimensions (A-, B- and H-values). MATERIAL AND METHODS: Cochlear parameters from 100 patients were measured by MPR, manual three-dimensional and ALPACA. We assessed intra- and inter-observer reliability as well as inter-method reliability. Statistical analyses were conducted to detect differences between the right and left ears, as well as to assess the relevance of the values obtained using ALPACA. RESULTS: All A-, B-, and H-values measured by the various methods showed a high intra-observer reliability with intra-class correlation coefficients (ICC) ranging from 0.70 to 0.99, and values gained by ALPACA reaching the highest ICC. Inter-method reliability was at a good level with ICC ranging from 0.51 to 0.86. There were no significant differences between the right and left ears' measured values. Obvious positive correlations existed among cochlear dimensions measured by ALPACA. CONCLUSIONS AND SIGNIFICANCE: The ALPACA method can be used to measure cochlear dimensions. Values obtained by the method demonstrate high reliability and consistency with a significant reduction in intra-observer variability compared to results from conventional MPR and manual 3D measurements.

Elevated modiolus density on high-resolution computed tomography as an indicator of cochlear neurodysplasia: a retrospective case-control study.

Background: Cochlear neurodysplasia (CND) is recognized as a contributing factor to sensorineural hearing loss in children. This study aimed to investigate the relationship between modiolus density on high-resolution computed tomography (HRCT) and CND, and to evaluate its performance in diagnosing CND. Methods: This retrospective study collected HRCT images of 34 patients diagnosed with unilateral neurological hearing loss in the Children's Hospital of Chongqing Medical University from March 2018 to December 2023, who were also diagnosed with unilateral CND by computed tomography (CT) and magnetic resonance imaging (MRI) hydroimaging. CT values of the modiolus and petrous bone were measured on the affected and healthy sides, in addition to determining the width of cochlear nerve foramina and the width of internal auditory tract. The receiver operator characteristic (ROC) curve was used to evaluate the diagnostic performance of these features. Simultaneously, comparisons were conducted with parameters obtained from normal children. A total of 29 patients without CND were randomly selected as a control group. Results: The unilateral sensorineural hearing loss group had 34 patients, comprising 18 males and 16 females, with a median age of 4.5 years, ranging from 0.7 to 11 years. The normal children group consisted of 20 males and 9 females, with a median age of 5.9 years, ranging from 0.5 to 12.0 years. Statistically significant differences were observed in the CT values of the modiolus, modiolus/petrous bone CT value ratio, width of cochlear nerve foramina, and width of internal auditory tract between the affected and healthy sides in patients with unilateral sensorineural hearing loss (P<0.05). The area under the ROC curve (AUC) of the modiolus CT value and the width of cochlear nerve foramina for the diagnosis of unilateral sensorineural hearing loss was 0.98 [95% confidence interval (CI): 0.95-1.00] and 0.99 (95% CI: 0.98-1.00), respectively. the modiolus density was significantly elevated in the affected sides in patients with unilateral CND. The optimal cut-off value of modiolus CT values was 983 Hounsfield unit (HU). Conclusions: The elevated density of the modiolus on HRCT holds significant value in diagnosing CND.

The association between amblyopia and the risks of hearing loss: A propensity matched analysis.

INTRODUCTION: Amblyopia occurs due to an imbalance in the visual input between the eyes. This can induce structural changes in the central nervous system and, if left untreated, eventually lead to permanent blindness in the affected eye. As these changes may also impact the auditory system, which closely interacts with the visual system, this study aimed to investigate the risk of hearing loss in patients with amblyopia. MATERIALS AND METHODS: This study was a retrospective review of the electronic medical records contained in a United States national database of medical records. Patients younger than 18 years old with and without amblyopia were matched and compared to evaluate the relative risk (RR) of having a hearing loss. Stratified analyses were further performed to explore whether the disease laterality and the amblyopia subtype influenced the risks. RESULTS: Compared to the controls, patients with amblyopia had a higher overall risk of having hearing loss (RR: 1.09, CI: 1.03-1.14), specifically sensorineural hearing loss (SNHL) (RR: 1.24, CI: 1.08-1.42). The stratified analysis further revealed that SNHL was associated with refractive amblyopia (RR: 1.84, CI: 1.50-2.26), but not strabismic amblyopia (RR: 1.23, CI: 1.10-1.38). The laterality of amblyopia did not influence the risk of hearing loss. CONCLUSIONS: Children with amblyopia have a higher rate of SNHL than children without amblyopia. As vision and hearing are essential in the proper cognitive development, language acquisition, and social and emotional well-being of children, patients with amblyopia may benefit from more frequent audiologic screening.

Evaluating the long-term outcomes from cochlear implant surgery for children with single and multiple additional needs.

Cochlear implant surgery is a cornerstone in the treatment of severe to profound hearing impairment. Despite comprising a significant proportion of the deaf population, children with additional needs have only been included for cochlear implant candidacy in recent years. This paper aims to evaluate the long-term progress of children with additional needs post-implantation compared to children without additional and assess how this trend changes over time. METHODS: This is a longitudinal cohort study comparing the outcomes between children with no additional needs, children with a single additional need, and children with multiple additional needs. The five outcome measures used assessed both auditory perception and expressive and receptive language. For each outcome measure, subjects were assessed pre implant and one-, three-, and five-years post-implant. RESULTS: The total cohort consisted of 334 subjects: 181 with no additional needs, 116 with a single additional need, and 37 with multiple additional needs. The results showed that children with additional needs performed significantly poorer in all outcome measures compared to those without additional needs, with a greater negative effect associated with multiple additional needs. In auditory perception, both additional needs groups increased in rate of progress over time, in contrast to language capabilities for which the rate plateaued at a significantly lower level than children without additional needs. Once again, both of these effects were greater for the multiple additional needs group. CONCLUSION: It is clear that there is reduced progress in children with additional needs compared to those without, and that the number of additional needs present is an important factor in this. Despite initial delays, it seems as though children with additional needs may catch up over time in auditory perception scores, however for language skills, this cohort may achieve limited scores even as time progresses. It is important to investigate this further to gauge the factors that are causing this discrepancy to see if any can be limited to maximise outcome.

Beyond Vision and Hearing: A Case Report of Wolfram Syndrome.

Wolfram syndrome (WFS) is an uncommon autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, diabetes insipidus, optic nerve degeneration, hearing impairment, and other abnormalities. Additionally, a portion of individuals experience neurological, endocrine, behavioral, and urinary tract disorders that make management more challenging. Here, we present a 22-year-old male who was diagnosed with type 1 diabetes at the age of 4 and received treatment with basal-bolus insulin therapy. He had blurring of vision and hearing loss at 13 years of age, and our evaluation revealed optic atrophy and sensorineural hearing loss. He had polydipsia and polyuria (intake/output of 5-6 L/day) despite a fairly controlled blood glucose level. Serum anti-diuretic hormone (ADH) was done, which confirmed the diagnosis of central diabetes insipidus. His sonogram and urinary flow studies revealed bilateral hydroureteronephrosis with reflux uropathy. We diagnosed him with neurogenic bladder disorder with detrusor sphincter dyssynergia. This patient had an early onset urological disorder with involvement of eyes and ears, with diabetes mellitus and diabetes insipidus, which satisfied the criteria of WFS. The genetic test confirmed the diagnosis. He is currently being managed with insulin and desmopressin.

Predictors of computed tomography imaging in patients presenting with sudden hearing loss.

Objective: Sudden sensorineural hearing loss (SSNHL) is a rare presentation requiring timely diagnosis and treatment. Despite recommendations against obtaining computed tomography (CT) imaging of the head in clinical practice guidelines, this investigation is often completed in patients with sudden hearing loss. The aim of this study was to determine the proportion of patients undergoing CT imaging of the head for SSNHL at our center and identify predictive factors for the use of CT imaging. Methods: Retrospective chart review of adult patients referred for SSNHL to two academic otology/neurotology practices between January 2018 and May 2021. Patient demographics, comorbid medical conditions, associated symptoms, location of initial presentation, audiologic results, and completed imaging studies were collected. Statistical analysis was performed with SPSS software. Results: Ninety-eight patients with audiologically confirmed SSNHL were included. Twenty-two patients (22.4%) underwent CT imaging as an investigation for SSNHL. The presence of vertigo (odds ratio 6.90; 95% confidence interval 2.43, 19.56) and presentation to the emergency room (odds ratio 8.71; 95% confidence interval 3.02, 25.16) were significantly associated with undergoing CT imaging. These two variables were statistically significant independent predictors of CT imaging on multivariate regression analysis (p = .01, p = .001, respectively). Conclusion: A significant proportion of patients with SSNHL undergo low-yield CT imaging of the head, particularly patients presenting to the emergency room with vertigo. These results highlight an opportunity for focused education and quality improvement initiatives.Level of evidence: 4.

Efficacy and safety of SENS-401 in sudden sensorineural hearing loss: The AUDIBLE-S randomized placebo-controlled phase IIb trial.

PURPOSE: Safety and efficacy of SENS-401, a serotonin type 3 (5-HT3) receptor antagonist and calcineurin inhibitor, in patients with acute sudden sensorineural hearing loss (SSNHL). METHODS: Multicentre randomized, double blind, placebo-controlled trial enrolled adult subjects with sudden sensorineural hearing loss (SSNHL) or unilateral/bilateral acute acoustic trauma leading to SSNHL within 96 h of disease onset. Subjects were randomly assigned to one of the three oral dose groups: 29 mg, 43.5 mg or placebo given twice daily for 28 days. The primary endpoint was the change from baseline in Pure Tone Average (PTA) in the affected ear to the end of treatment visit (day 28). Subjects were further followed up 8 weeks after the end of the treatment period (day 84). RESULTS: A total of 115 subjects were randomized. SENS-401 was well tolerated. Although the primary efficacy endpoint was not met at day 28, post-hoc analyses revealed clinically significant and meaningful efficacy outcomes with SENS-401 when compared to placebo in a substantial group of participants diagnosed with idiopathic SSNHL and who had received corticosteroid treatment. Notable improvements were observed in the PTA change from baseline, the complete hearing recovery rate, and the Word Recognition Score (WRS), particularly at day 84. The responder rate consistently favored treated subjects over those who received the placebo. CONCLUSION: While the primary endpoint was not achieved at the end of the treatment period, the study revealed consistently positive efficacy results of clinical relevance in patients with idiopathic SSNHL who received SENS-401, particularly in the 8-weeks follow-up phase after the completion of the treatment.

[Rehabilitation with cochlear implants in children with malformations of the inner ear]. / Cochleaimplantatversorgung von Kindern mit Malformationen des Innenohrs.

Cochlear implants (CIs) are the treatment of choice for hearing rehabilitation in children with congenital or acquired profound hearing loss or deafness in order to ensure appropriate speech development and avoid social deprivation. However, in the case of a radiologically detectable malformation of the inner ear structures and potentially associated hypo- or aplasia of the vestibulocochlear nerve, application of a CI is either not possible, or the functional outcome may be of limited predictability. In addition, the risk of surgical complications is also increased in these patients. Counseling parents and developing an appropriate individual therapeutic decision can therefore be a major challenge for the medical team. The current paper is intended to provide support in this regard. It presents criteria for various inner ear malformations and discusses possible treatment options.

Noise exposure of the inner ear during robotic drilling.

INTRODUCTION: Preserving the cochlear structures and thus hearing preservation, has become a prominent topic of discussion in cochlear implant (CI) surgery. Various approaches and soft surgical techniques have been described when approaching the inner ear. Robot-assisted cochlear implant surgery (RACIS) reaches the round window in a minimally invasive manner by following a trajectory of minimal trauma. This involves the drilling of a keyhole trajectory to the round window, through the facial recess, with no need for a complete mastoidectomy. It involves less drilling, less drilling time and less structural damage. A lot of attention has been paid to the structural traumatic causes of hearing loss but acoustic trauma during the exposure of the inner ear appears to be neglected topic. AIM: The aim was to measure the noise exposure of the inner ear during the robotic drilling of the mastoid and bony overhang of the round window. The results were compared with the milling in conventional cochlear implantation surgery. INTERVENTION: RACIS on fresh frozen human cadavers. OUTCOME MEASUREMENTS: The equivalent frequency-weighted and time-averaged sound pressure level LAF in dB and the noise dose in % derived from a noise damage model, both obtained during RACIS. MATERIALS AND METHODS: The robotic drilling of 6 trajectories towards the inner ear were performed, including 4 trajectories through round window access and 2 trajectories through cochleostomy. The results were compared with the data of 7 cases of conventional CI surgery that have been described in literature. The induced equivalent sound pressure level LAF was determined via an accelleration sensor at the zygomatic arch and a calibration according to bone conduction audiometry. A noise dose for the whole procedure was calculated from the equivalent sound pressure level LAF and the exposure time using a noise damage model. A noise dose of 100% is considered a critical exposure limit and values above are considered potentially harmful, with the risk of hearing impairment. RESULTS: The maximum LAF was 82 dB during fiducial screw placement; 87 dB during middle ear access; 95 dB for the accesses through the round window and 88 dB for the accesses through cochleostomy. The noise dose due to the HEARO®-procedure was always far below the critical value of 100%. There was no acoustic trauma of the inner ear in all cases with the noise dose being smaller than 0.1% in five out of the six cases. The maximum LAF in the seven cases of conventional CI surgery was 118 dB with a maximum cumulative noise dose of 172.6%. The critical exposure limit of 100% was exceeded in three cases of conventional CI surgery. CONCLUSION: RACIS provokes significantly less acoustic trauma than conventional mastoid surgery in our findings. There were no observable differences in noise exposure levels between a cochleostomy or a round window approach where the bony overhang needed to be drilled.

Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants.

Usher syndrome (USH) is the most common cause of deafblindness. USH is autosomal recessively inherited and characterized by rod-cone dystrophy or retinitis pigmentosa (RP), often accompanied by sensorineural hearing loss. Variants in >15 genes have been identified as causative for clinically and genetically distinct subtypes. Among the ultra-rare and recently discovered genes is ARSG, coding for the lysosomal sulfatase Arylsulfatase G. This subtype was assigned as "USH IV" with a late onset of RP and usually late-onset progressive SNHL without vestibular involvement. Here, we describe nine new subjects and the clinical description of four cases with the USH IV phenotype bearing seven novel and two known pathogenic variants. Functional experiments indicated the complete loss of sulfatase enzymatic activity upon ectopic expression of mutated ARSG cDNA. Interestingly, we identified a homozygous missense variant, p.(Arg99His), previously described in dogs with neuronal ceroid lipofuscinosis. Our study expands the genetic landscape of ARSG-USH IV and the number of known subjects by more than 30%. These findings highlight that USH IV likely has been underdiagnosed and emphasize the need to test molecularly unresolved subjects with deafblindness syndrome. Finally, testing of ARSG should be considered for the genetic work-up of apparent isolated inherited retinal diseases.

High-Frequency Audiovestibular Dysfunction in Long-Standing Diabetes Mellitus: Insights from a Cross-Sectional Study.

This study investigates audiovestibular dysfunction in individuals with long-standing diabetes mellitus (DM). A cross-sectional study was conducted involving 100 patients (DM for ≥ 10 years) at the Department of E.N.T. in Prakash Institute of Medical Sciences and Research, Sangli, Maharashtra. A mean age of 43.09 years among patients, with 64% male and 36% female participants. Hearing loss was the most common complaint, affecting 46% of subjects, followed by vertigo in 23%. Pure tone audiometry revealed that 34% of patients had sensorineural hearing loss, with varying degrees of severity. Vestibular dysfunction was observed in 10% of cases. Correlation analysis indicated a significant positive relationship between the duration of DM and hearing thresholds at various frequencies, as well as with HbA1c levels. This suggests a worsening of hearing with longer DM duration and higher HbA1c levels. The prevalence of hearing impairment was higher at higher frequencies, with vestibular dysfunction also noted in a subset of patients.

Assessment of Otolith Function with Subjective Visual Vertical Test in Sensorineural Hearing Loss: An Analytical Cross - Sectional Study.

The inner ear is responsible for balance and auditory function. Sensorineural hearing loss (SNHL) affects auditory function across various age groups. Vestibular apparatus, particularly the otolith organ can also be affected in cases of SNHL because of the close proximity of the otolith organs with the cochlea inside the bony labyrinth. The otolith organs can be assessed with Subjective Visual vertical test (SVV), which is a simple, rapid, non-invasive test with high sensitivity and specificity. Present study was conducted with the objective to compare the SVV parameters between normal and SNHL patients and to correlate between the degree of tilt in SVV with severity of SNHL. A convenient sample size of 60 was taken of which 30 were control and 30 were SNHL patients. PTA and SVV were performed on both groups and results were analysed in IBM SPSS version 26. Age stratified analysis between the control group and SNHL group for the age group 20-40 years and for > 40 years revealed a significant statistical difference in the average static SVV (P = 0.019 and P = 0.009 for age group 20-40 years and > 40 years respectively) and dynamic anti clockwise SVV (P = 0.024 and P = 0.031 for age group 20-40 years, and > 40 years respectively) between the control group and the SNHL group. Correlational analysis also shows a moderate correlation between the bone conduction threshold and the various SVV parameters. Statistical difference of SVV parameters between the two groups suggests a possible early involvement of the otolith organ in SNHL. As such the utility of SVV as an early marker for otolith dysfunction needs to be further explored. It may be worthwhile to follow up the patients of SNHL longitudinally and assess the otolith function with SVV at periodic intervals to identify any progression.

Implementing next-generation sequencing for diagnosis and management of hereditary hearing impairment: a comprehensive review.

INTRODUCTION: Sensorineural hearing impairment (SNHI), a common childhood disorder with heterogeneous genetic causes, can lead to delayed language development and psychosocial problems. Next-generation sequencing (NGS) offers high-throughput screening and high-sensitivity detection of genetic etiologies of SNHI, enabling clinicians to make informed medical decisions, provide tailored treatments, and improve prognostic outcomes. AREAS COVERED: This review covers the diverse etiologies of HHI and the utility of different NGS modalities (targeted sequencing and whole exome/genome sequencing), and includes HHI-related studies on newborn screening, genetic counseling, prognostic prediction, and personalized treatment. Challenges such as the trade-off between cost and diagnostic yield, detection of structural variants, and exploration of the non-coding genome are also highlighted. EXPERT OPINION: In the current landscape of NGS-based diagnostics for HHI, there are both challenges (e.g. detection of structural variants and non-coding genome variants) and opportunities (e.g. the emergence of medical artificial intelligence tools). The authors advocate the use of technological advances such as long-read sequencing for structural variant detection, multi-omics analysis for non-coding variant exploration, and medical artificial intelligence for pathogenicity assessment and outcome prediction. By integrating these innovations into clinical practice, precision medicine in the diagnosis and management of HHI can be further improved.