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1.
Trends Hear ; 28: 23312165241265199, 2024.
Article in English | MEDLINE | ID: mdl-39095047

ABSTRACT

Participation in complex listening situations such as group conversations in noisy environments sets high demands on the auditory system and on cognitive processing. Reports of hearing-impaired people indicate that strenuous listening situations occurring throughout the day lead to feelings of fatigue at the end of the day. The aim of the present study was to develop a suitable test sequence to evoke and measure listening effort (LE) and listening-related fatigue (LRF), and, to evaluate the influence of hearing aid use on both dimensions in mild to moderately hearing-impaired participants. The chosen approach aims to reconstruct a representative acoustic day (Time Compressed Acoustic Day [TCAD]) by means of an eight-part hearing-test sequence with a total duration of approximately 2½ h. For this purpose, the hearing test sequence combined four different listening tasks with five different acoustic scenarios and was presented to the 20 test subjects using virtual acoustics in an open field measurement in aided and unaided conditions. Besides subjective ratings of LE and LRF, behavioral measures (response accuracy, reaction times), and an attention test (d2-R) were performed prior to and after the TCAD. Furthermore, stress hormones were evaluated by taking salivary samples. Subjective ratings of LRF increased throughout the test sequence. This effect was observed to be higher when testing unaided. In three of the eight listening tests, the aided condition led to significantly faster reaction times/response accuracies than in the unaided condition. In the d2-R test, an interaction in processing speed between time (pre- vs. post-TCAD) and provision (unaided vs. aided) was found suggesting an influence of hearing aid provision on LRF. A comparison of the averaged subjective ratings at the beginning and end of the TCAD shows a significant increase in LRF for both conditions. At the end of the TCAD, subjective fatigue was significantly lower when wearing hearing aids. The analysis of stress hormones did not reveal significant effects.


Subject(s)
Acoustic Stimulation , Hearing Aids , Noise , Humans , Male , Female , Middle Aged , Aged , Noise/adverse effects , Correction of Hearing Impairment/instrumentation , Correction of Hearing Impairment/methods , Attention , Persons With Hearing Impairments/psychology , Persons With Hearing Impairments/rehabilitation , Adult , Auditory Fatigue , Time Factors , Reaction Time , Virtual Reality , Auditory Perception/physiology , Fatigue , Hearing Loss/psychology , Hearing Loss/rehabilitation , Hearing Loss/physiopathology , Hearing Loss/diagnosis , Speech Perception/physiology , Saliva/metabolism , Saliva/chemistry , Hearing , Auditory Threshold
2.
JAMA Netw Open ; 7(7): e2424373, 2024 Jul 01.
Article in English | MEDLINE | ID: mdl-39052288

ABSTRACT

Importance: Age-related hearing loss is common in an aging population, affecting communication and contributing to a worsened quality of life. It occurs as a result of cochlear degeneration and may be further exacerbated by inflammation and microvascular changes, as observed in animal models. Objective: To compare the effect of daily low-dose aspirin vs placebo on the progression of age-related hearing loss in healthy older adults. Design, Setting, and Participants: A prespecified secondary analysis was conducted of the Aspirin in Reducing Events in the Elderly (ASPREE) randomized clinical trial. Participants were 279 healthy community-dwelling individuals living in Australia who were aged 70 years or older and free of overt cardiovascular diseases, dementia, and life-limiting illnesses. Participants were recruited between January 1, 2010, and December 31, 2014, and followed up over 3 years. Statistical analysis was completed from June to December 2023. Intervention: A 100-mg daily dose of enteric-coated aspirin or matching placebo. Main Outcomes and Measures: Hearing measures were air conduction audiometry and binaural speech perception in noise. Assessments were conducted at baseline, 18 months, and 3 years. The change from baseline hearing measures were analyzed using an intention to treat approach. Aspirin and placebo were compared using mixed linear regression models adjusting for age, sex, diabetes, and smoking. Results: Of 279 participants, 154 (55%) were male, and the median age at baseline was 73.1 years (IQR, 71.5-76.2 years). A total of 98 of 138 participants (71%) in the aspirin group and 94 of 141 participants (67%) in the placebo group reported experiencing hearing loss at baseline. Compared with placebo, aspirin did not affect the changes in mean (SD) 4-frequency average hearing threshold from baseline to year 3 (aspirin: baseline, 27.8 [13.3] dB; year 3, 30.7 [13.7] dB; difference, 3.3 [3.9] dB; placebo: baseline, 27.5 [12.6] dB; year 3, 30.9 [13.8] dB; difference, 3.0 [4.8] dB; P = .55) nor any other tested frequencies. An increase in air conduction threshold indicates a deterioration in hearing. Similarly, for the mean (SD) speech reception threshold, there was no significant difference observed between the aspirin and placebo group at the year 3 follow-up assessment (aspirin: baseline, -9.9 [3.8] dB; year 3, -9.1 [3.8] dB; difference, 0.9 [2.9] dB; placebo: baseline, -10.5 [7.1] dB; year 3, -9.6 [4.1] dB; difference, 0.9 [5.9] dB; P = .86). The findings were consistent across sex, age groups, diabetic and smoking status. Conclusions and Relevance: In this secondary analysis of the ASPREE randomized clinical trial, low-dose aspirin did not affect the progression of age-related hearing loss. More investigation is warranted on whether a longer follow-up or the use of a more powerful anti-inflammatory agent might prove beneficial. Trial Registration: anzctr.org.au Identifier: ACTRN12614000496617.


Subject(s)
Aspirin , Disease Progression , Presbycusis , Humans , Aspirin/therapeutic use , Aspirin/administration & dosage , Male , Female , Aged , Presbycusis/drug therapy , Australia , Anti-Inflammatory Agents, Non-Steroidal/administration & dosage , Anti-Inflammatory Agents, Non-Steroidal/therapeutic use , Aged, 80 and over , Hearing Loss/prevention & control , Double-Blind Method , Speech Perception/drug effects
3.
Med Sci Monit ; 30: e945152, 2024 Jul 26.
Article in English | MEDLINE | ID: mdl-39054658

ABSTRACT

BACKGROUND This prospective study aimed to compare outcomes and hearing improvement in 51 patients with adhesive otitis media following endoscopic and microscopic tympanoplasty. MATERIAL AND METHODS Between April 2021 and April 2022, 51 patients diagnosed with pars tensa retraction and hearing loss who underwent endoscopic and microscopic cartilage tympanoplasty were included in the study (endoscopic tympanoplasty group: 26 patients, microscopic tympanoplasty group: 25 patients). Pure-tone audiometric data (0.5, 1, 2, and 4 kHz), air-bone gap (ABG), and postoperative graft intake were compared. RESULTS Hearing gain in the ABG was significant in both groups (p<0.05). When the groups were compared for mean hearing gain in the ABG, the difference was significant (p<0.05). The postoperative ABG in the endoscopic group was significantly smaller than that in the microscopic group. When the postoperative air conduction threshold was evaluated, there was no significant difference between the 2 groups at 4 kHz, whereas a significant difference was observed in the endoscopic tympanoplasty group at 0.5, 1, and 2 kHz. Postoperative graft failure and otorrhea were not observed in any of the patients. CONCLUSIONS Pars tensa retractions and adhesive otitis media show comparable outcomes with both endoscopic and microscopic techniques. In endoscopic tympanoplasty, better visualization allows for better hearing outcomes. The endoscopic method, characterized by a wide field of view and a less invasive approach, enhances access to retraction limits.


Subject(s)
Endoscopy , Otitis Media , Tympanoplasty , Humans , Otitis Media/surgery , Male , Female , Endoscopy/methods , Prospective Studies , Tympanoplasty/methods , Adult , Middle Aged , Treatment Outcome , Audiometry, Pure-Tone , Hearing/physiology , Hearing Loss/surgery
5.
FP Essent ; 542: 7-13, 2024 Jul.
Article in English | MEDLINE | ID: mdl-39018125

ABSTRACT

Hearing loss is the cause of significant morbidity throughout the United States and the world. Because of numerous factors, such as ongoing noise exposure, poorly controlled chronic disease, and an aging population, the burden of hearing loss is expected to continue to increase. Hearing loss commonly is categorized as conductive, sensorineural, or mixed. The type of hearing loss can be determined through a combination of patient history and physical examination, and then confirmed with audiometry and tympanometry. Advanced imaging is not typically necessary, but it may be helpful in specific instances. The presentation of sudden sensorineural hearing loss should prompt urgent referral to an otolaryngologist and audiologist. Management of this condition is selective but may initially include oral corticosteroids. Management for chronic hearing loss involves the use of hearing aids, which can offer a large benefit to users but historically have been expensive and not covered by many insurance plans. Recent US legislation has made hearing aids more accessible and affordable by allowing direct-to-consumer marketing and offering over-the-counter hearing aids without a clinical evaluation.


Subject(s)
Hearing Aids , Humans , Acoustic Impedance Tests , Audiometry , Hearing Loss/diagnosis , Hearing Loss/therapy , Hearing Loss, Sensorineural/diagnosis , Hearing Loss, Sensorineural/therapy , Hearing Loss, Sudden/therapy , Hearing Loss, Sudden/diagnosis , United States
6.
Philos Trans R Soc Lond B Biol Sci ; 379(1908): 20230258, 2024 Aug 26.
Article in English | MEDLINE | ID: mdl-39005027

ABSTRACT

Music is an important part of life for many people. It can evoke a wide range of emotions, including sadness, happiness, anger, tension, relief and excitement. People with hearing loss and people with cochlear implants have reduced abilities to discriminate some of the features of musical sounds that may be involved in evoking emotions. This paper reviews these changes in perceptual abilities and describes how they affect the perception of emotion in music. For people with acquired partial hearing loss, it appears that the perception of emotion in music is almost normal, whereas congenital partial hearing loss is associated with impaired perception of music emotion. For people with cochlear implants, the ability to discriminate changes in fundamental frequency (associated with perceived pitch) is much worse than normal and musical harmony is hardly perceived. As a result, people with cochlear implants appear to judge emotion in music primarily using tempo and rhythm cues, and this limits the range of emotions that can be judged. This article is part of the theme issue 'Sensing and feeling: an integrative approach to sensory processing and emotional experience'.


Subject(s)
Auditory Perception , Cochlear Implants , Emotions , Hearing Loss , Music , Humans , Hearing Loss/psychology , Hearing Loss/physiopathology
7.
Health Expect ; 27(4): e14133, 2024 Aug.
Article in English | MEDLINE | ID: mdl-38988044

ABSTRACT

BACKGROUND: The role of patients in healthcare research is slowly evolving, although patient roles in the research process are limited. This paper reports on a patient-led research project aiming to develop a musical hearing training programme for patients with a cochlear implant (CI): the Musi-CI programme. A CI is an inner ear prosthesis that allows people with severe hearing loss to hear. However, while speech can be understood, CI users cannot fully enjoy music or feel aversion to it. The Musi-CI programme aims to reduce this music aversion to ultimately improve music enjoyment and social participation. The development of the Musi-CI programme was supported by a consortium of professionals in CI rehabilitation and research. The aim of this paper is to describe and evaluate the Musi-CI programme development process and its impact on professional CI rehabilitation and research. METHODS: Programme development was described using a 3-layered process model of action research, distinguishing the CI user process, the healthcare professional process and the research process. To evaluate perceptions on the programme development process, consortium partners provided written comments and participated in a reflexive evaluation session that was video-recorded. Reflexive evaluation aims for collective learning and strengthening collaboration among participants. Written comments and video data were analysed using template analysis. RESULTS: The involvement of an expert by experience was perceived as challenging but rewarding for all consortium partners, opening up new perspectives on CI-rehabilitation practice and research. Data analysis revealed two themes on the programme development process, professional space and acknowledgement, and two themes on the outcomes on CI rehabilitation and research: critical reflection and paradigm shift. CONCLUSION: Experts by experience represent a different knowledge domain that may contribute to change in rehabilitation and research. PATIENT OR PUBLIC CONTRIBUTION: The development of the programme was initiated by a professional musician and CI user who organized the funding, had a leading role throughout the research process, including the write-up of the results, and co-authored this paper.


Subject(s)
Cochlear Implants , Humans , Music , Program Development , Patient Participation , Hearing Loss/rehabilitation , Music Therapy , Program Evaluation
8.
Article in Chinese | MEDLINE | ID: mdl-38973031

ABSTRACT

Objective:To evaluate the effects of cochlear implantation in patients with single-sided deafness(SSD) and asymmetrical hearing loss(AHL). Methods:Seventeen Mandarin-speaking CI patients diagnosed as SSD/AHL were recruited in our study. The Tinnitus Handicap Inventory(THI) and the Visual Analogue Scale(VAS) were used to assess changes in tinnitus distress and tinnitus loudness in SSD patients at each time point(pre-operation and post-operation). Results:The THI score and all 3 dimensions were significant decreased with CI-on than pre-operation(P<0.05). Tinnitus VAS scores were also decreased, and VAS scores were lower with CI-on than with CI-off, and were both significantly different at each time point after CI switch-on(P<0.05). Conclusion:CI could help SSD/AHL patients to suppress tinnitus and reduce the loudness of tinnitus. However, CI should not be a treatment of tinnitus.


Subject(s)
Cochlear Implantation , Hearing Loss, Unilateral , Tinnitus , Humans , Cochlear Implantation/methods , Female , Male , Middle Aged , Adult , Treatment Outcome , Cochlear Implants , Aged , Hearing Loss
9.
Article in Chinese | MEDLINE | ID: mdl-38973051

ABSTRACT

With the development of social economic and technology, Cochlear Implantation has became an effective therapy for patients who suffered from severe or profound hearing impairment. In the meantime, patients' demands for sound and auditory quality are also increasing. In terms of speech recognition, localization, and auditory quality, bilateral hearing is closer to the auditory experience of normal individuals, so bilateral cochlear implantation(BCI) emerged as the times require. In this article, we will introduce the status and progress of bimodal regarding to the following aspects: the brief history, the advantages of BCI, different methods for BCI, and the problems encountered in BCI.


Subject(s)
Cochlear Implantation , Cochlear Implants , Humans , Cochlear Implantation/methods , Speech Perception , Hearing Loss/surgery
10.
Schweiz Arch Tierheilkd ; 166(7): 379-392, 2024 Jul.
Article in German | MEDLINE | ID: mdl-38975650

ABSTRACT

INTRODUCTION: The brainstem auditory evoked response (BAER) is a diagnostic approach to examine the hearing system of horses objectively. The aim of this BAER examination was the diagnosis of conductive or sensorineural hearing loss or deafness in horses with external otitis, head trauma, headshaking, tinnitus or skittish horses with eye disease. Brainstem dysfunction is induced by intracranial hypotension. BAER was used in horses with colic surgery which had a low arterial blood pressure during general anesthesia. The endoscopic finding of the guttural pouch was the ipsilateral mild to severe hypertrophy of the tympanostylohyoideum in horses with external otitis or head trauma. The otoscopic examination of standing sedated horses was done before BAER. The cartilagineous and osseous part of the external ear canal in horses with external otitis were obstructed with exsudate and tympanic membranes were not visible. Horses with right sided external otitis: right moderate to severe conductive hearing loss (significantly prolonged latencies of I, III, V and interpeak latencies I-III, I-V, III-V; thresholds of hearing levels 60 to 80 dB right); horses with left sided external otitis: left severe conductive hearing loss (no correct identification of BAER peaks, latencies not measurable, 80 dB); horse with left sided head trauma: severe left sided conductive hearing loss (blood in the left external ear canal, no visible tympanic membrane, no correct identification of BAER peaks, latencies not measurable, 80 dB); horses with head shaking: mild sensorineural hearing loss on both sides (on both sides osseous parts II/III with keratin scales of the junction, visible tympanic membranes, significantly prolonged V, I-III, I-V, 40 dB); moderate to severe skittish horses with chronic eye disease (mostly left sided equine recurrent uveitis): moderate sensorineural hearing loss on both sides (normal otoscopical findings, significantly prolonged latencies and interpeak latencies left; I-V, III-V right, 60 dB, pathological involvement in the auditory pathway of the brainstem between the cochlear nucleus and colliculus caudalis); horse with a tinnitus on both sides: mild sensorineural hearing loss on both sides (normal otoscopical findings, prolonged V, I-III, I-V, III-V, 40 dB, pathology of auditory nerve, cochlear nucleus and above the level of this nucleus); American paint horses: sensorineurale deafness on both sides (normal otoscopical findings, absent BAER peaks, isoelectric lines and 80 dB on both sides). The prolonged latencies of I, III and V including interpeak latencies I-III only left and I-V and III-V on both sides in horses with laparotomy during general anesthesia were associated with low arterial blood pressure (62 mmHg, median). These findings could demonstrate a hypotension in the brainstem too. The BAER could be a technical tool during general anesthesia for normalizing the arterial blood pressure and brainstem function to prevent imbalance of body movements after general anesthesia.


INTRODUCTION: L'examen objectif de l'audition chez le cheval est réalisé par la mesure des Potentiels Évoqués Auditifs (PEA) ou Brainstem Auditory-Evoked Response (BAER). L'objectif de ces examens est de diagnostiquer une surdité de transmission ou neurosensorielle ou une surdité chez les chevaux souffrant d'otite externe, de traumatisme crânien, de headshaking, d'acouphènes ou chez des chevaux craintifs souffrant d'une maladie oculaire. Étant donné que l'audiométrie du tronc cérébral vérifie également la fonction du tronc cérébral, des chevaux ayant subi une laparotomie et une déshydratation préopératoire ont été examinés pour détecter un dysfonctionnement du tronc cérébral dû à une baisse de la pression artérielle. L'otoscopie et l'audiométrie du tronc cérébral (système AEP Corona) ont été réalisées. Les résultats de l'otoscopie chez les chevaux atteints d'otite externe: Pars cartilaginea et ossea degré III, tympan non visible. Les résultats de l'endoscopie des poches gutturales chez les chevaux atteints d'otite externe exsudative ou de traumatisme crânien: toujours une augmentation ou une hypertrophie ipsilatérale du tympanostylohyoïdien. Les résultats de la BAER des chevaux atteints d' une otite externe à droite sont les suivants: surdité de transmission moyenne à sévère à droite (ondes I, III, V significativement prolongées, latences interpicales I-III, I-V, III-V par rapport au groupe de contrôle, valeurs limites au-dessus du seuil auditif normal 60 à 80 dB); chevaux atteints d'otite externe à gauche: surdité de transmission de haut niveau à gauche (ondes non identifiables, 80 dB à gauche); chevaux avec une fistule auriculaire à droite: surdité de perception bilatérale de bas niveau (allongement significatif des ondes III, V et des latences interpicales des deux côtés, 40 dB); cheval avec traumatisme crânien à gauche: surdité de transmission de degré élevé (à gauche, sang dans le conduit auditif externe, tympan non visible, ondes non identifiables, 80 dB); chevaux avec headshaking: surdité de perception de degré faible (des deux côtés, pars ossea de degré II, tympans visibles, allongement significatif V, I-III, I-V, 40 dB); chevaux présentant une peur et une maladie oculaire: surdité moyenne, neurosensorielle (otoscopie normale, allongement significatif de toutes les ondes et des latences interpeak à gauche, I-V, III-V à droite, 60 dB, vitesse pathologique de conduction des voies auditives dans le tronc cérébral); American Paint Horses: surdité neurosensorielle (otoscopie normale, ligne isoélectrique bilatérale des HA, 80 dB). Les ondes I, III et V prolongées et les latences interpicales I-III, I-V et III-V chez les chevaux ayant subi une laparotomie sont associées à la baisse de la pression artérielle (62 mmHg, médiane) pendant l'anesthésie générale et indiquent une hypotension dans le tronc cérébral. Pendant l'anesthésie générale, l'audiométrie du tronc cérébral offre une possibilité particulière de détecter le dysfonctionnement du tronc cérébral, de réguler la pression artérielle et de garantir un lever sans problème avec un équilibre auditif et visuel de la posture après l'anesthésie générale.


Subject(s)
Anesthesia, General , Evoked Potentials, Auditory, Brain Stem , Horse Diseases , Animals , Horses , Evoked Potentials, Auditory, Brain Stem/physiology , Horse Diseases/physiopathology , Anesthesia, General/veterinary , Anesthesia, General/adverse effects , Hearing Loss/veterinary , Hearing Loss/physiopathology , Hearing Loss/etiology
11.
PLoS One ; 19(7): e0305617, 2024.
Article in English | MEDLINE | ID: mdl-38985787

ABSTRACT

OBJECTIVES: The aim of this systematic review article is to evaluate the relationship between diabetes mellitus (DM) and sensorineural hearing loss (SNHL) utilizing preclinical animal models. The review focused on studies assessing SNHL in diabetic animal models, elucidating the mechanisms of DM-associated SNHL, and exploring the response of diabetic animal models to noise overexposure. We also discussed studies investigating the efficacy of potential therapeutic strategies for amelioration of DM-associated SNHL in the animal models. METHODS: A protocol of this systematic review was designed a priori and was registered in the PROSPERO database (registration number: CRD42023439961). We conducted a comprehensive search on PubMed, Science Direct, Web of Science, Scopus, and EMBASE databases. A minimum of three reviewers independently screened, selected, and extracted data. The risk of bias assessment of eligible studies was conducted using the Systematic Review Center for Laboratory Animal Experimentation (SYRCLE) tool. RESULTS: Following the screening of 238 studies, twelve original articles were included in this systematic review. The studies revealed that hyperglycemia significantly affects auditory function, with various pathological mechanisms contributing to DM-induced hearing impairment, including cochlear synaptopathy, microangiopathy, neuropathy, oxidative stress, mitochondrial abnormalities, and apoptosis-mediated cell death. Emerging interventions, such as Asiaticoside, Trigonelline, Chlorogenic acid, and Huotanquyu granules, demonstrated efficacy in providing otoprotection for preserving cochlear hair cells and hearing function. CONCLUSIONS: Our systematic review delves into the intricate relationship between DM and hearing impairment in animal models. Future research should focus on targeted therapies to enhance cochlear mitochondrial function, alleviate oxidative stress, and regulate apoptosis. The association between SNHL and social isolation as well as cognitive decline underscores the necessity for innovative therapeutic modalities addressing yet undiscovered mechanisms. Translating findings from animal models to human studies will validate these findings, offering a synergistic approach to effectively manage DM-associated co-morbidities such as hearing impairment.


Subject(s)
Disease Models, Animal , Animals , Hearing Loss, Sensorineural , Humans , Oxidative Stress/drug effects , Diabetes Mellitus , Diabetes Mellitus, Experimental/complications , Hearing Loss
12.
PLoS One ; 19(7): e0305726, 2024.
Article in English | MEDLINE | ID: mdl-39018317

ABSTRACT

This study examines the usability of communication-assistive applications for hearing-impaired users, with a focus on enhancing user experience and promoting social inclusion. Although such applications have been developed and evaluated previously, interface designs that consider the intimacy needs of hearing-impaired users remain under-explored. We performed a comprehensive usability evaluation employing a mixed-method approach, which involved hearing-impaired individuals as well as field experts. The findings revealed areas for improvement in the design, validated the feasibility of implementing these applications, and emphasized the importance of incorporating the unique needs and preferences of hearing-impaired users. Furthermore, this paper discusses the importance of introducing guidelines and evaluation scales for the "Design for Emotion and Life Knowledge" levels to facilitate smooth and effective human-computer interactions. Such measures will promote the development of intelligent assistive technologies that reflect the qualitative needs of people with disabilities and contribute to social rights for hearing-impaired users. With the growing demands of artificial-intelligence-powered assistive technologies, the inclusion of individuals with disabilities in the design and research process is anticipated to increase. In future, studies should be conducted to blend the culturally shared experiences and emotional bonds expressed by users (having mild-to-severe hearing impairment) with the design and development process of assistive devices or services.


Subject(s)
Mobile Applications , Humans , Male , Female , Communication , Hearing Loss/rehabilitation , Hearing Loss/psychology , Self-Help Devices , Persons With Hearing Impairments/psychology , Adult , User-Computer Interface , Middle Aged
13.
BMC Med Genomics ; 17(1): 189, 2024 Jul 17.
Article in English | MEDLINE | ID: mdl-39020321

ABSTRACT

BACKGROUND: This study aims to analyze the pathogenic gene in a Chinese family with non-syndromic hearing loss and identify a novel mutation site in the TNC gene. METHODS: A five-generation Chinese family from Anhui Province, presenting with autosomal dominant non-syndromic hearing loss, was recruited for this study. By analyzing the family history, conducting clinical examinations, and performing genetic analysis, we have thoroughly investigated potential pathogenic factors in this family. The peripheral blood samples were obtained from 20 family members, and the pathogenic genes were identified through whole exome sequencing. Subsequently, the mutation of gene locus was confirmed using Sanger sequencing. The conservation of TNC mutation sites was assessed using Clustal Omega software. We utilized functional prediction software including dbscSNV_AdaBoost, dbscSNV_RandomForest, NNSplice, NetGene2, and Mutation Taster to accurately predict the pathogenicity of these mutations. Furthermore, exon deletions were validated through RT-PCR analysis. RESULTS: The family exhibited autosomal dominant, progressive, post-lingual, non-syndromic hearing loss. A novel synonymous variant (c.5247A > T, p.Gly1749Gly) in TNC was identified in affected members. This variant is situated at the exon-intron junction boundary towards the end of exon 18. Notably, glycine residue at position 1749 is highly conserved across various species. Bioinformatics analysis indicates that this synonymous mutation leads to the disruption of the 5' end donor splicing site in the 18th intron of the TNC gene. Meanwhile, verification experiments have demonstrated that this synonymous mutation disrupts the splicing process of exon 18, leading to complete exon 18 skipping and direct splicing between exons 17 and 19. CONCLUSION: This novel splice-altering variant (c.5247A > T, p.Gly1749Gly) in exon 18 of the TNC gene disrupts normal gene splicing and causes hearing loss among HBD families.


Subject(s)
Pedigree , Humans , Male , Female , Hearing Loss/genetics , Adult , Asian People/genetics , Genes, Dominant , Mutation , RNA Splicing , Middle Aged , China , Exons , East Asian People , Extracellular Matrix Proteins , GPI-Linked Proteins
14.
JASA Express Lett ; 4(7)2024 Jul 01.
Article in English | MEDLINE | ID: mdl-38980136

ABSTRACT

Alzheimer's disease (AD) is a progressive neurodegenerative disorder in which changes in hearing sensitivity precede cognitive decline. Despite a well-known link between dementia and hearing loss, few AD model mouse lines have hearing characterized. We screened for hearing loss using auditory brainstem responses (ABR) in young (3-4 months) and aging (9-10 months) mice with a P301S tauopathy (PS19 mice). Compared to wild types, aging PS19 mice did not show accelerated hearing loss but did show latency differences in centrally generated ABR waveform components. These results suggest that tauopathy causes mild central auditory dysfunction in the absence of overt hearing loss.


Subject(s)
Alzheimer Disease , Disease Models, Animal , Evoked Potentials, Auditory, Brain Stem , Tauopathies , Animals , Alzheimer Disease/physiopathology , Mice , Tauopathies/physiopathology , Tauopathies/pathology , Mice, Transgenic , Hearing Loss/physiopathology , Hearing Loss/etiology , Humans , Audiometry/methods
15.
Otol Neurotol ; 45(7): 732-739, 2024 Aug 01.
Article in English | MEDLINE | ID: mdl-38956759

ABSTRACT

OBJECTIVE: To characterize the pattern of hearing loss in Charcot-Marie-Tooth (CMT) disease to help guide clinical management. DATABASES REVIEWED: CINAHL, PubMed, and Scopus. METHODS: Two independent investigators selected studies on CMT patients with pure-tone average (PTA) and auditory brainstem response (ABR) data. Case reports, case series <5 patients, and data that overlapped with another study were excluded. Investigators performed data extraction, quality rating, and risk-of-bias assessment using the Newcastle-Ottawa Scale. Meta-analysis of mean difference using fixed/random effects models was used. Also, data were analyzed using a weighted one-way analysis of variance, with post-hoc Tukey's test for comparison. RESULTS: Ultimately, 6 prospective studies (N = 197) were included. The most common demyelinating subtype (CMT1A) had significantly prolonged ABR latency values across wave III (0.20 ms, 95% confidence interval [CI]: 0.05-0.35), wave V (0.20 ms, 95% CI: 0.01-0.39), waves I-III (0.20 ms, 95% CI: 0.01-0.39), and waves I-V (0.20 ms, 95% CI: 0.01-0.39) when compared to matched controls. The autosomal recessive demyelinating subtype (CMT4C) had significantly worse PTA when compared to the most common subtype (CMT1A) (Δ 28.93 dB, 95% CI 18.34-39.52) and nondemyelinating subtype (CMT2A) (Δ 28.3 dB, 95% CI: 15.98-40.62). CONCLUSIONS: Patients with CMT can present with a variety of phenotypes depending on the causative mutation. The ABR interpeak latency values for the most common demyelinating form of CMT are delayed when compared to matched controls. Most subtypes have normal hearing thresholds, apart from CMT4C, which presents with mild hearing loss on average.


Subject(s)
Charcot-Marie-Tooth Disease , Evoked Potentials, Auditory, Brain Stem , Hearing Loss , Charcot-Marie-Tooth Disease/physiopathology , Charcot-Marie-Tooth Disease/genetics , Humans , Evoked Potentials, Auditory, Brain Stem/physiology , Audiometry, Pure-Tone
16.
Sci Rep ; 14(1): 15029, 2024 07 01.
Article in English | MEDLINE | ID: mdl-38951556

ABSTRACT

Recent advances in haptic technology could allow haptic hearing aids, which convert audio to tactile stimulation, to become viable for supporting people with hearing loss. A tactile vocoder strategy for audio-to-tactile conversion, which exploits these advances, has recently shown significant promise. In this strategy, the amplitude envelope is extracted from several audio frequency bands and used to modulate the amplitude of a set of vibro-tactile tones. The vocoder strategy allows good consonant discrimination, but vowel discrimination is poor and the strategy is susceptible to background noise. In the current study, we assessed whether multi-band amplitude envelope expansion can effectively enhance critical vowel features, such as formants, and improve speech extraction from noise. In 32 participants with normal touch perception, tactile-only phoneme discrimination with and without envelope expansion was assessed both in quiet and in background noise. Envelope expansion improved performance in quiet by 10.3% for vowels and by 5.9% for consonants. In noise, envelope expansion improved overall phoneme discrimination by 9.6%, with no difference in benefit between consonants and vowels. The tactile vocoder with envelope expansion can be deployed in real-time on a compact device and could substantially improve clinical outcomes for a new generation of haptic hearing aids.


Subject(s)
Hearing Aids , Noise , Speech Perception , Humans , Speech Perception/physiology , Male , Female , Adult , Young Adult , Touch/physiology , Acoustic Stimulation/methods , Touch Perception/physiology , Hearing Loss/physiopathology
17.
Medicine (Baltimore) ; 103(27): e38819, 2024 Jul 05.
Article in English | MEDLINE | ID: mdl-38968457

ABSTRACT

The COVID-19 pandemic, caused by the novel coronavirus SARS-CoV-2, has manifested with respiratory symptoms and a spectrum of extra-pulmonary complications. Emerging evidence suggests potential impacts on the auditory and vestibular systems, but the extent and nature of these effects in recovered individuals remain unclear. This study aimed to investigate the prevalence and severity of vertigo and hearing impairment in individuals who have recovered from COVID-19 and to identify potential risk factors associated with these sensory symptoms. A cohort of 250 recovered COVID-19 patients was assessed. Standardized questionnaires, including the Dizziness Handicap Inventory and the Vertigo Symptom Scale, were used to evaluate vertigo. Hearing assessment was conducted using pure-tone audiometry, speech audiometry, tympanometry, and oto-acoustic emissions testing. Logistic regression analysis was performed to assess the association between COVID-19 severity and the occurrence of sensory symptoms, controlling for confounding variables such as age and comorbidities. Of the participants, 10% reported vertigo, varying severity. Hearing assessments revealed that most participants had normal hearing, with an average speech discrimination score of 94.6. Logistic regression analysis indicated a significant association between severe COVID-19 and an increased likelihood of vertigo (OR 2.11, 95% CI 1.02-4.35, P = .043) and hearing impairment (OR 3.29, 95% CI 1.60-6.78, P = .002). This study suggests a significant association between COVID-19 severity and vertigo and hearing impairment prevalence. The findings underscore the importance of sensory symptom assessment in the post-recovery phase of COVID-19, highlighting the need for comprehensive healthcare approaches to manage long-term sequelae.


Subject(s)
COVID-19 , Hearing Loss , SARS-CoV-2 , Vertigo , Humans , COVID-19/complications , COVID-19/epidemiology , Vertigo/epidemiology , Vertigo/etiology , Male , Female , Middle Aged , Hearing Loss/epidemiology , Hearing Loss/etiology , Adult , Pandemics , Aged , Prevalence , Severity of Illness Index , Pneumonia, Viral/complications , Pneumonia, Viral/epidemiology , Coronavirus Infections/complications , Coronavirus Infections/epidemiology , Risk Factors , Betacoronavirus
18.
Sci Rep ; 14(1): 15342, 2024 07 03.
Article in English | MEDLINE | ID: mdl-38961196

ABSTRACT

Mitochondrial forms account approximately 1-2% of all nonsyndromic cases of hearing loss (HL). One of the most common causative variants of mtDNA is the m.1555A > G variant of the MT-RNR1 gene (OMIM 561000). Currently the detection of the m.1555A > G variant of the MT-RNR1 gene is not included in all research protocols. In this study this variant was screened among 165 patients with HL from the Republic of Buryatia, located in the Baikal Lake region of Russia. In our study, the total contribution of the m.1555A > G variant to the etiology of HL was 12.7% (21/165), while the update global prevalence of this variant is 1.8% (863/47,328). The m.1555A > G variant was notably more prevalent in Buryat (20.2%) than in Russian patients (1.3%). Mitogenome analysis in 14 unrelated Buryat families carrying the m.1555A > G variant revealed a predominant lineage: in 13 families, a cluster affiliated with sub-haplogroup A5b (92.9%) was identified, while one family had the D5a2a1 lineage (7.1%). In a Russian family with the m.1555A > G variant the lineage affiliated with sub-haplogroup F1a1d was found. Considering that more than 90% of Buryat families with the m.1555A > G variant belong to the single maternal lineage cluster we conclude that high prevalence of this variant in patients with HL in the Baikal Lake region can be attributed to a founder effect.


Subject(s)
DNA, Mitochondrial , Founder Effect , Hearing Loss , Humans , Russia/epidemiology , Female , Male , Hearing Loss/genetics , Hearing Loss/epidemiology , Prevalence , DNA, Mitochondrial/genetics , Adult , Child , Adolescent , Haplotypes , Child, Preschool , Middle Aged , Lakes , Young Adult
19.
Afr Health Sci ; 24(1): 228-238, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38962342

ABSTRACT

Background: Early detection of hearing loss and subsequent intervention leads to better speech, language and educational outcomes giving way to improved social economic prospects in adult life. This can be achieved through establishing newborn and infant hearing screening programs. Objective: To determine the prevalence of hearing loss in newborns and infants in Nairobi, Kenya. Methods: A cross-sectional pilot study was conducted at the National hospital and at a sub county hospital immunization clinic. A total of 9,963 babies aged 0-3 years, were enrolled in the hearing screening program through convenient sampling over a period of nine months. A case history was administered followed by Distortion Product Oto-acoustic emissions (DPOAEs) and automated auditory brainstem response (AABR) hearing screening. Results: The screening coverage rate was 98.6% (9963/10,104). The referral rate for the initial screen was 3.6% (356/ 9,963), the return rate for follow-up rescreening was 72% (258 babies out of 356) with a lost to follow-up rate of 28% (98/356). The referral rate of the second screen was 10% (26/258). All the 26 babies referred from the second screen returned for diagnostic hearing evaluation and were confirmed with hearing loss, yielding a prevalence of 3/1000. Conclusions: Establishing universal newborn and infant hearing screening programs is essential for early detection and intervention for hearing loss. Data management and efficient follow-up systems are an integral part of achieving diagnostic confirmation of hearing loss and early intervention.


Subject(s)
Early Diagnosis , Hearing Loss , Hearing Tests , Neonatal Screening , Humans , Kenya/epidemiology , Infant, Newborn , Hearing Loss/diagnosis , Hearing Loss/epidemiology , Infant , Neonatal Screening/methods , Cross-Sectional Studies , Female , Pilot Projects , Male , Hearing Tests/methods , Prevalence , Child, Preschool , Mass Screening/methods , Evoked Potentials, Auditory, Brain Stem
20.
BMC Med Genomics ; 17(1): 173, 2024 Jul 01.
Article in English | MEDLINE | ID: mdl-38956522

ABSTRACT

BACKGROUND: Autosomal recessive non-syndromic hearing loss (NSHL) and cone dystrophies (CODs) are highly genetically and phenotypically heterogeneous disorders. In this study, we applied the whole exome sequencing (WES) to find the cause of HL and COD in an Iranian consanguineous family with three affected individuals. METHODS: Three members from an Iranian consanguineous family who were suffering from NSHL and visual impairment were ascertained in this study. Comprehensive clinical evaluations and genetic analysis followed by bioinformatic and co-segregation studies were performed to diagnose the cause of these phenotypes. Data were collected from 2020 to 2022. RESULTS: All cases showed congenital bilateral NSHL, decreased visual acuity, poor color discrimination, photophobia and macular atrophy. Moreover, cornea, iris and anterior vitreous were within normal limit in both eyes, decreased foveal sensitivity, central scotoma and generalized depression of visual field were seen in three cases. WES results showed two variants, a novel null variant (p.Trp548Ter) in the PDE6C gene causing COD type 4 (Achromatopsia) and a previously reported variant (p.Ile84Thr) in the PDZD7 gene causing NSHL. Both variants were found in the cis configuration on chromosome 10 with a genetic distance of about 8.3 cM, leading to their co-inheritance. However, two diseases could appear independently in subsequent generations due to crossover during meiosis. CONCLUSIONS: Here, we could successfully determine the etiology of a seemingly complex phenotype in two adjacent genes. We identified a novel variant in the PDE6C gene, related to achromatopsia. Interestingly, this variant could cooperatively cause visual disorders: cone dystrophy and cone-rod dystrophy.


Subject(s)
Color Vision Defects , Cyclic Nucleotide Phosphodiesterases, Type 6 , Pedigree , Adult , Child , Female , Humans , Male , Color Vision Defects/genetics , Consanguinity , Cyclic Nucleotide Phosphodiesterases, Type 6/genetics , Exome Sequencing , Eye Proteins , Hearing Loss/genetics , Iran , Mutation , Phenotype
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