Congenital hereditary endothelial dystrophy with progressive sensorineural deafness: a case report of Harboyan syndrome

ABSTRACT We present the case of a 37-year-old woman who underwent bilateral penetrating keratoplasty for congenital hereditary endothelial dystrophy at the age of 10 years. Over the subsequent 27 years, the patient's vision slowly deteriorated. Our examination revealed decompensation of the right corneal graft. We addressed this with regraft surgery. We then learned that the patient had been suffering from progressive hearing loss since adolescence. Tonal audiometry revealed hearing per ceptive deafness of 25 dB, which was more prominent in the left ear. Because the patterns of progressive sensorineural hearing loss and congenital hereditary endothelial dystrophy have both been linked to the same gene, slc4a11, we tested our patient for mutations in this gene. The test was positive for a heterozygous slc4a11 gene fifth exon mutation on chromosome 20p13-p12, which causes a frameshift. A combined clinical and genetic evaluation confirmed a diagnosis of Harboyan syndrome. After the genetic diagnosis of the disease, she was evaluated for the need for a hearing aid due to her hearing loss. The patient was also informed about genetic counseling.

Effectiveness of the active communication education program in improving the general quality of life of older adults who use hearing aids: a randomized clinical trial.

BACKGROUND: Hearing loss in older adults affects general, generic health-related and disease-specific quality of life (QoL). The conventional strategy to address it is through hearing aids, which have been shown to improve disease-specific QoL. However, the long-term results regarding general quality of life are unknown, and communication problems and stigma associated with hearing loss may persist. An effective intervention strategy to address these problems is group communication programs, most notably Active Communication Education (ACE). This program has been shown to increase communication strategies and reduce communication activity limitations and participation restrictions. These precedents allow us to hypothesize that this program could improve general QoL. METHODS: A randomized clinical trial was conducted on 114 older adult hearing aid users. Fifty-four subjects composed the intervention group that received the ACE program, while 60 subjects composed the control group that received an informational-lectures type intervention. The WHOQOL-BREF questionnaire was used to measure general QoL. Measurements were taken before and right after the intervention, with follow-ups at 6 and 12 months. Multilevel linear mixed models were estimated, considering the WHOQOL-BREF dimension scores and total score as the outcomes, and an interaction term between time since intervention and group as the predictor. Within- and between-group comparisons were made. RESULTS: Compared to the baseline time-point, the ACE group showed significant improvements right after the intervention, and at the 6-month and 12-month follow-ups for the dimensions of psychological health, social relationships, environment, and total score. Compared to the control group, the ACE group exhibited significantly greater improvements in the social dimension at all postintervention assessments, as well as in the environment dimension and total score at the 12-month follow-up. CONCLUSIONS: The ACE program improved general QoL in terms of social relationships and environment dimensions, which lasted up to 12 months after the intervention. Therefore, ACE is positioned as an effective complement for HA users, enhancing and delivering new benefits related to broader aspects of QoL not necessarily tied to health. TRIAL REGISTRATION: ISRCTN54021189 (retrospectively registered on 18/07/2023).

Correlation between vestibular response to caloric stimulation and cochlear function in Ménière's disease.

OBJECTIVE: To analyze the correlation between caloric testing response patterns with respect to cochlear impairment in individuals with unilateral Ménière's disease. METHODS: In this observational cross-sectional study, the factor under study was Ménière's disease and the outcome was cochleovestibular function, evaluated through caloric stimulation using videonystagmography and four-frequency averages in pure tone audiometry. RESULTS: A total of 187 patients (equal sex distribution) who met the inclusion criteria were included. In impairment analysis of the affected ear, 17 patients had only vestibular impairment, 56 had only cochlear impairment, and 114 had cochleovestibular impairment. The distribution of Ménière's disease stages according to four-frequency average was grade I: 23.53%, grade II: 16.04%, grade III: 42.25%, and grade IV: 18.18%. There was a significant association (p < 0.001) between the affected ear and labyrinthine preponderance. The Spearman correlation between four-frequency average and labyrinth preponderance (r = 0.326) indicated a moderate correlation, considering p < 0.01. CONCLUSION: Our results show that the greater the cochlear damage due to Ménière's disease, the more impaired the vestibular function in the affected ear. LEVEL OF EVIDENCE: Level 2 - Individual cross-sectional studies with consistently applied reference standard and blinding.

Brazilian Society of Otology task force - single sided deafness - recommendations based on strength of evidence.

OBJECTIVE: To make evidence-based recommendations for the treatment of Single-Sided Deafness (SSD) in children and adults. METHODS: Task force members were instructed on knowledge synthesis methods, including electronic database search, review and selection of relevant citations, and critical appraisal of selected studies. Articles written in English or Portuguese on SSD were eligible for inclusion. The American College of Physicians' guideline grading system and the American Thyroid Association's guideline criteria were used for critical appraisal of evidence and recommendations for therapeutic interventions. RESULTS: The topics were divided into 3 parts: (1) Impact of SSD in children; (2) Impact of SSD in adults; and (3) SSD in patients with temporal bone tumors. CONCLUSIONS: Decision-making for patients with SSD is complex and multifactorial. The lack of consensus on the quality of outcomes and on which measurement tools to use hinders a proper comparison of different treatment options. Contralateral routing of signal hearing aids and bone conduction devices can alleviate the head shadow effect and improve sound awareness and signal-to-noise ratio in the affected ear. However, they cannot restore binaural hearing. Cochlear implants can restore binaural hearing, producing significant improvements in speech perception, spatial localization of sound, tinnitus control, and overall quality of life. However, cochlear implantation is not recommended in cases of cochlear nerve deficiency, a relatively common cause of congenital SSD.

Noise-induced hearing loss: a 10-year analysis of notifications according to the Brazilian Classification of Occupations.

Introduction: Noise-induced hearing loss has a high incidence among Brazilian workers, causing socioeconomic and cognitive impairments. Objectives: To describe noise-induced hearing loss according to professional occupation between 2012 and 2021. Methods: This was a cross-sectional and descriptive study of Brazilian workers affected by noise-induced hearing loss. Data were collected from noise-induced hearing loss notifications filed with the Sistema de Informação de Agravos de Notificação in Brazil. The absolute and relative frequencies of sociodemographic variables and occupational characteristics were assessed. Results: A total of 7,413 cases of noise-induced hearing loss were notified in Brazil. Workers in industrial production were the most affected (56.4%). There was a higher prevalence in White (45.4%), male (87.3%) participants aged between 50 and 59 years (42.5%) from the Southeast region (43%). In this study, 3.5% of participants were temporarily removed from their position, 42.6% reported using personal protective equipment, and 65.7% did not use collective protective equipment. The most prevalent type of noise was continuous noise (33%). Conclusions: Noise-induced hearing loss is prevalent among Brazilian workers and varies according to each occupational group. Cases of noise-induced hearing loss are underreported in Brazil.

Introdução: A perda auditiva induzida por ruído possui alta incidência entre os trabalhadores brasileiros, acarretando prejuízos socioeconômicos e cognitivos. Objetivos: Descrever a perda auditiva induzida por ruído no Brasil segundo a ocupação entre os anos de 2012 e 2021. Métodos: Tratou-se de um estudo transversal e descritivo, cuja população-alvo foi trabalhadores brasileiros afetados pela perda auditiva induzida por ruído. Os dados foram coletados a partir das fichas de notificação de perda auditiva induzida por ruído, oriundas do Sistema de Informação de Agravos de Notificação no período de 2012 a 2021. Foram analisadas as frequências absoluta e relativa de variáveis sociodemográficas e de características do trabalho. Resultados: Foram notificados 7.413 casos de perda auditiva induzida por ruído no país, sendo o grupo de trabalhadores da produção de bens e serviços industriais o mais afetado (56,4%). Houve maior proporção de casos em indivíduos do sexo masculino (87,3%), com cor de pele branca (45,4%), na faixa etária de 50 a 59 anos (42,5%) e da região Sudeste (43%). Entre os trabalhadores, 3,5% foram afastados temporariamente de suas ocupações, 42,6% faziam uso de medidas de proteção individual e 65,7% não utilizavam proteção coletiva. O ruído contínuo foi predominante (33%). Conclusões: A perda auditiva induzida por ruído é prevalente entre os trabalhadores brasileiros e varia conforme o grupo ocupacional. Os casos de perda auditiva induzida por ruído são subnotificados no Brasil.

Interaction effect of self-efficacy and joint problems on hearing aid abandonment among older adults.

OBJECTIVE: We assessed the interaction between self-efficacy and joint problems and self-efficacy and visual problems on the risk of hearing aid abandonment in older adults. DESIGN: A retrospective cohort study comprising older adults who received hearing aids in Chile was conducted. Hearing aid self-efficacy was measured using the S-MARS-HA questionnaire, while joint and visual problems were assessed through self-reported questions. Survival regression models were conducted to investigate the interaction between self-efficacy and joint problems, as well as self-efficacy and visual problems. STUDY SAMPLE: The study included 355 older adults who received hearing aids through the Chilean public health sector. RESULTS: A significant interaction effect indicated that the relationship between self-efficacy and the risk abandonment was influenced by joint problems (p < 0.05). In the subpopulation with joint problems, self-efficacy was associated with a reduced risk of hearing aid abandonment (HR = 0.81), whereas in the subpopulation without joint problems, the protective effect was more pronounced (HR = 0.52). The interaction between self-efficacy and visual problems was not significant. CONCLUSIONS: The interaction between self-efficacy and joint problems was associated with the risk of abandonment. Addressing limitations associated with joint problems and individuals' confidence in using their hearing aids could reduce the abandonment.

Auditory changes in awake guinea pigs exposed to overcompressed music.

Exposure to loud sound during leisure time is identified as a significant risk factor for hearing by health authorities worldwide. The current standard that defines unsafe exposure rests on the equal-energy hypothesis, according to which the maximum recommended exposure is a tradeoff between level and daily exposure duration, a satisfactory recipe except for strongly non-Gaussian intense sounds such as gunshots. Nowadays, sound broadcast by music and videoconference streaming services makes extensive use of numerical dynamic range compression. By filling in millisecond-long valleys in the signal to prevent competing noise from masking, it pulls sound-level statistics away from a Gaussian distribution, the framework where the equal-energy hypothesis emerged. Auditory effects of a single 4 hour exposure to the same music were compared in two samples of guinea pigs exposed either to its original or overcompressed version played at the same average level of 102 dBA allowed by French regulations. Apart from a temporary shift of otoacoustic emissions at the lowest two frequencies 2 and 3 kHz, music exposure had no detectable cochlear effect, as monitored at 1, 2 and 7 days post-exposure. Conversely, middle-ear muscle strength behaved differentially as the group exposed to original music had fully recovered one day after exposure whereas the group exposed to overcompressed music remained stuck to about 50% of baseline even after 7 days. Subsamples were then re-exposed to the same music as the first time and sacrificed for density measurements of inner-hair-cell synapses. No difference in synaptic density was found compared to unexposed controls with either type of music. The present results show that the same music piece, harmless when played in its original version, induces a protracted deficit of one auditory neural pathway when overcompressed at the same level. The induced disorder does not seem to involve inner-hair cell synapses.

Sudden sensorineural hearing loss: audiological profile during the COVID-19 pandemic.

Introduction: Sudden sensorineural hearing loss (SSNHL) is an otological emergency that requires prompt recognition and intervention to prevent devastating impacts on people's lives. During the COVID-19 pandemic, sensory deprivations have been reported in patients positive for SARS-CoV-2 virus, including deleterious effects on the auditory pathway. This study aims to describe the audiological profile of individuals with SSNHL during the COVID-19 pandemic and to correlate hearing recovery in subgroups of individuals with or without COVID-19. Methods: Prospective cohort including patients diagnosed with SSNHL evaluated in a tertiary care center between March 2020 and September 2022. Hearing loss was confirmed with pure-tone and speech audiometry, with Speech Recognition Threshold (SRT) and word recognition score (WRS). Audiometric testing was performed at the moment of diagnosis, then 7, 30 and 120 days after diagnosis. The average degree of hearing loss was assessed by calculating the 4-frequency pure tone average (4fPTA). The investigation of COVID-19 included RT-PCR technique for the SARS-CoV-2 virus and collection of information regarding disease severity. A statistical analysis was performed using an analysis of covariance (ANCOVA) model to compare the 4fPTA between the four groups (with and without a history of COVID-19, unilateral and bilateral cases) at the end of the follow-up period. Results: Fifty-two patients with SSNHL were assessed, 40 (76.9%) with unilateral and 12 (23.1%) with bilateral hearing loss, totaling 64 ears included. Of those, 15 (28.8%) patients tested positive for SARS-CoV-2 and were symptomatic for COVID-19. Of all unilateral cases, 22.5% were seropositive and showed symptoms of COVID-19, a number that increased to 50% for bilateral cases. Comparing the COVID-19 positive groups, individuals with unilateral SSNHL went from 40 dB as their average 4fPTA at onset to 20 dB as their average 4fPTA after 120 days, whereas those with bilateral SSNHL went from an initial average of 60 dB to a final average of 66 dB. Although the 4fPTA value of individuals with unilateral SSNHL improved in 7 days, the mean values showed no significant difference between positive and negative groups. There was a higher incidence of bilateral simultaneous SSNHL in patients who had not been vaccinated against COVID-19 and who presented with symptoms of severe COVID-19. Conclusion: Infection with SARS-CoV-2 resulted in more severe SSNHL, in bilateral SSNHL, and in poorer recovery from SSNHL in bilateral cases. Bilateral SSNHL was seen more frequently in patients who had not received vaccination against COVID-19.

Comprehensive Approach for the Genetic Diagnosis of Patients with Waardenburg Syndrome.

Waardenburg syndrome (WS) is a common genetic cause of syndromic hearing loss, accounting for 2-5% of congenital cases. It is characterized by hearing impairment and pigmentation abnormalities in the skin, hair, and eyes. Seven genes are associated with WS: PAX3, MITF, EDNRB, EDN3, SOX10, KITLG, and SNAI2. This study investigates the genetic causes of WS in three familial cases. Whole-exome sequencing (WES) was performed to identify single nucleotide variants (SNVs). Copy number variants (CNVs) were analyzed from the WES raw data and through multiplex ligation-dependent probe amplification (MLPA). The study identified one pathogenic SNV and two novel CNVs, corresponding to type I and type II WS patterns in the three families. The SNV, a nonsense variant (c.1198C>T p.Arg400*), was found in MITF and segregated in the affected father. The two CNVs were a deletion of exon 5 in PAX3 in a family with two affected members and a large novel deletion comprising seven genes, including SOX10, in a family with three affected members. These findings confirmed a WS diagnosis through genetic testing. The study emphasizes the importance of integrating multiple genetic testing approaches for accurate and reliable diagnosis, highlighting their role in improving patient management and providing tailored genetic counseling.

Meningitis e hipoacusia neurosensorial por Rickettsia sp. en Perú: reporte de caso / Meningitis and neurosensory hypoacousia due to Rickettsia sp. in Peru: case report

RESUMEN Se presenta el caso de una mujer joven, trabajadora de salud, residente en una región altoandina del Perú, con exposición reciente a animales de granja y artrópodos, que presenta síndrome febril agudo indiferenciado, trombocitopenia severa y extravasación pulmonar y abdominal. Posteriormente desarrolla meningitis e hipoacusia neurosensorial bilateral de instalación temprana y muestra serología reactiva a infección aguda por Rickettsias sp. Se discuten las consideraciones epidemiológicas y clínicas en el diagnóstico diferencial para un manejo oportuno.

ABSTRACT We present the case of a young female health worker, resident in a high Andean region of Peru, with recent exposure to farm animals and arthropods, who developed acute febrile undifferentiated syndrome, severe thrombocytopenia and pulmonary and abdominal extravasation. Subsequently, the patient developed meningitis and early onset bilateral neurosensorial hypoacusis and showed reactive serology to acute infection by Rickettsia sp. Epidemiological and clinical considerations in the differential diagnosis for early management are discussed.

Hearing health and noise exposure in population between 18 to 64 years old in Bogotá, Colombia, 2014-2018 / Salud auditiva y exposición a ruido ambiental en población de 18 a 64 años de Bogotá, Colombia, entre el 2014 y el 2018.

Introduction: Hearing health is a public health concern that affects the quality of life and can be disturbed by noise exposure, generating auditory and extra-auditory symptoms. Objective. To identify the hearing health status in adults living in Bogotá and its association with environmental noise exposure and individual and otological factors. Objective: To identify the hearing health status in adults living in Bogotá and its association with environmental noise exposure and individual and otological factors. Materials and methods: We conducted a cross-sectional study using a database with 10,311 records from 2014 to 2018, consigned in a structured survey of noise perception and hearing screening. We performed a descriptive, bivariate, and binary logistic regression analysis. Results: Of the included participants, 35.4% presented hearing impairment. In the perception component, 13.0 % reported not hearing well; 28.8 % had extra-auditory symptoms, 53.3 % informed otological antecedents and 69.0 % presented discomfort due to extramural noise. In the logistic regression, the variables with the highest association for hearing impairment were living in noisy areas (OR = 1.50) (95% CI: 1.34-1.69), being male (OR = 1.85) (95% CI: 1.64-2.09), increasing age (for each year of life, the risk of hearing impairment increased 6%), and having history of extra-auditory symptoms (OR = 1.86) (95% CI: 1.66-2.08). Conclusions: Hearing impairment is multi-causal in the studied population. The factors that promote its prevalence are increasing age, being male, smoking, ototoxic medications, living in areas with high noise exposure, and extra-auditory symptoms.

Introducción. La salud auditiva es un tema de interés en salud pública que afecta la calidad de vida y que puede afectarse por la exposición continua al ruido, un factor de riesgo que genera síntomas auditivos y extraauditivos. Objetivo. Identificar el estado de salud auditiva de adultos que viven en Bogotá, y su asociación con factores de exposición a ruido ambiental, individuales y otológicos. Materiales y métodos. Se realizó un estudio transversal mediante el análisis de una base de datos con 10.311 registros, obtenidos entre los años 2014 y 2018, producto de una encuesta estructurada de percepción de ruido y tamizaje auditivo. Se hizo un análisis descriptivo bivariado y una regresión logística binaria. Resultados. El 35,4 % de los participantes presentó disminución auditiva. En el componente de percepción: 13,0 % refirió no escuchar bien, 28,8 % informó síntomas extraauditivos, 53,3 % tenía antecedentes otológicos, y 69,0 % manifestó molestia por ruido extramural. En la regresión logística, las variables más asociadas con disminución auditiva fueron: de las ambientales, vivir en zonas de mayor ruido (OR = 1,50) (IC95%: 1,34-1,69); de las individuales, ser hombre (OR = 1,85) (IC95%: 1,64-2,09) y la edad (por cada año de vida, el riesgo de disminución auditiva aumentó 6 %); y de las otológicas, tener antecedente de síntomas otológicos (OR = 1,86) (IC95%: 1,66-2,08). Conclusiones. La disminución auditiva es multicausal en la población evaluada. Los factores que aumentan su prevalencia son incremento de la edad, ser hombre, tabaquismo, medicamentos ototóxicos, vivir en zonas de mayor exposición a ruido y presentar síntomas extraauditivos.

Development of a clinical investigation protocol for occupational auditory health.

Introduction: Considering that noise is present in different work environments, occupational health regulations have been created that advocate for the care of employees' auditory system in these environments. Occupational hearing assessment should be performed by audiologists through audiological examinations, otoscopy, as well as an interview to assess possible risk factors for the development of hearing loss. However, up to the present moment, a standardized set of updated questions for this interview has not been defined. Objectives: To develop a clinical investigation instrument for occupational auditory health that provides support for clinical decision-making and differential diagnosis. Methods: The study was conducted using Design Thinking as a methodological approach in its stages of inspiration (problem identification), ideation (theoretical foundation and protocol design), and prototyping (protocol construction). Experience report: This study was conducted with the objective of providing support for clinical decision-making and differential diagnosis of the auditory aspects of the assisted population. The Protocolo de Investigação Clínica da Saúde Auditiva Ocupacional was developed, consisting of six main sections that address medical history, lifestyle habits, exposure to non-occupational noise, work history, extra-auditory symptoms, and auditory and vestibular signs and symptoms, aimed at investigating workers' auditory health and related aspects. Conclusions: The developed instrument can be used for data collection and assist audiologists in the occupational health teams in diagnosis and decision-making processes.

Introdução: Considerando que o ruído está presente em diferentes ambientes laborais, foram criadas normas regulamentadoras de saúde ocupacional que preconizam o cuidado com o sistema auditivo dos colaboradores destes ambientes. A avaliação auditiva ocupacional deve ser realizada pelo fonoaudiólogo através dos exames de audiometria e meatoscopia, além de uma entrevista para avaliar possíveis fatores de risco para o desenvolvimento de perdas auditivas. Entretanto, até o presente momento não foi definido um padrão de perguntas atualizado para esta entrevista. Objetivos: Desenvolver um instrumento de investigação clínica da saúde auditiva ocupacional que ofereça suporte para tomadas de decisões clínicas e diagnóstico diferencial. Métodos: O estudo foi desenvolvido utilizando o design thinking como abordagem metodológica em suas etapas de inspiração (observada a problemática), ideação (fundamentação e delineamento teórico do protocolo) e prototipação (construção do protocolo). Relato da experiência: Este estudo foi realizado objetivando oferecer suporte para tomadas de decisões clínicas e diagnóstico diferencial dos aspectos auditivos da população assistida. Foi desenvolvido o Protocolo de Investigação Clínica da Saúde Auditiva Ocupacional, composto de seis seções principais que abordam o histórico clínico, hábitos de vida, exposição a ruído extraocupacional, histórico laboral, sintomas extra-auditivos e sinais e sintomas auditivos e vestibulares, que visam investigar a saúde auditiva do trabalhador e aspectos relacionados a ela. Conclusões: O instrumento desenvolvido poderá servir para a coleta de dados e auxílio para diagnóstico e tomada de decisões dos fonoaudiólogos das equipes de saúde ocupacional.

Ear Complaints in Fibromyalgia: A Narrative Review.

INTRODUCTION: Patients with fibromyalgia (FM) have innumerable complaints due to the central amplification of somatic stimuli. The aim of this paper was to review the ear complaints in patients with FM. METHODS: A review of articles published in PubMed/MEDLINE, Embase, Web of Science, and Scopus from 1966 to June 2023 was performed. RESULTS: Seventeen papers were included in the review. They showed that patients with FM have a higher hearing loss rate, mostly at high frequencies, and hyperacusis. The prevalence of vestibular symptoms (tinnitus, dizziness) and hyperacusis was higher than in the general population, reaching 87.0% of the sample. Subjective findings did not always correspond to objective results. In some studies, the degree of FM severity was associated with ear symptoms; in others, it was not. CONCLUSIONS: Ear complaints in patients with FM are linked to subjacent disease and may be related to stimuli central amplification.

The Auditory Steady-State Response and the Relationship between Electrophysiological and Behavioural Thresholds.

BACKGROUND: This study examined the relationship between behavioural thresholds as measured by pure tone audiometry and electrophysiological thresholds measured by the Auditory Steady-State Response (ASSR) in children with normal hearing and sensorineural hearing loss. MATERIALS AND METHODS: After being assessed, 45 children of both sexes, ranging in age from 5 to 15, were split into four groups: 10 with moderate to moderately severe sensorineural hearing loss (G2M); 10 with steeply sloping sensorineural hearing loss (G2D); 10 with profound and severe sensorineural hearing loss (G2S); and 15 with normal hearing (G1). ASSR, tympanometry, acoustic reflex testing, pure tone audiometry, and speech audiometry (SRT and SDT) were performed. RESULTS: The electrophysiological maximum in the group with normal hearing thresholds varied from 19 to 27 dB NA. The correlation in the group with moderate to moderately severe hearing loss was 0.42-0.74. The correlation in the steeply sloping hearing loss group was 0.68-0.94. The correlation in the group of people with profound and severe hearing loss was 0.59-0.86. The normal hearing group's mean differences in ASSR threshold and audiometric threshold ranged from -0.3 to 12 dB, in the moderate and moderately severe hearing loss group from -9 to 2 dB, in the steeply sloping hearing loss group from 1.4 to 7.5 dB, and in the severe and profound hearing loss group from -0.40 to 8.5 dB. CONCLUSION: As expected, there was no strong relationship between behavioural and electrophysiological thresholds in the group with normal hearing. But in children with hearing loss, there was a strong correlation between electrophysiological and behavioural thresholds; this relationship was especially evident in children with severe and profound hearing loss and those with steeply sloping hearing loss.

Peripheral Auditory Pathway and ABR Characterization in Adults with Williams Syndrome.

Introduction Williams syndrome (WS) is a genetic disorder caused by a microdeletion in chromosome 7, affecting ∼ 28 genes. Studies have demonstrated conductive losses seemingly related to the absence of the elastin gene and mild to profound sensorineural losses due to cochlear fragility. Objective To characterize and compare the peripheral auditory system and auditory brainstem response (ABR) of adults with WS and neurotypical adults matched by age and gender. Methods We conducted a cross-sectional observational study with 30 individuals of both sexes, aged 18 to 37 years - 15 of them with WS (study group) and 15 with neither the syndrome nor hearing complaints (control group), matched for sex and age. The subjects underwent pure-tone and speech audiometry, acoustic immittance, transient-evoked otoacoustic emissions (TEOAEs), and ABR. Results Early-onset sensorineural hearing loss was found in 53.3% of the study sample, mostly mild, occurring above 3 kHz. The TEOAEs were absent in 53.3% of assessed subjects; for those in whom they were present, the signal-to-noise responses were significantly lower than in the control group. In the ABR, increased absolute latencies were observed in waves I and III. Conclusion Individuals with WS have early and progressive cochlear impairments, mainly affecting the basal region of the cochlea. They may have low brainstem changes which seem to begin in adulthood.

The Role of Computed Tomography in the Diagnosis of Congenital Sensorineural Hearing Loss.

Introduction One of the paths in the investigation of congenital sensorineural hearing loss (CSNHL) is to try to characterize its etiology through the inner ear evaluation using high resolution computer tomography (CT) scans. With minor malformation, it is not always possible for a simple visual inspection to recognize if the structure in the inner ear is normal or not. Objective To verify if measurements of the inner ear are predictive of sensorineural hearing loss (SNHL) and suggest cutoff points of size limits. Methods Retrospective cross-sectional study of inner ear CT scan measurements of 214 patients, 50 with congenital SNHL (CSNHL) and 164 acquired SNHL (ASNHL) (control group). Results In the CSNHL group, central bony island (CBI) were 0.48 mm smaller ( p < 0.001), cochlear nerve aperture was (CNA) 0.10 mm smaller ( p < 0.001), and cochlea height was (CH) 0.15 mm smaller ( p < 0.001). Vestibular aqueduct (VA) and cochlea width (CW) were similar between groups (0.70 vs 0.72, p = 0.19, and 7.20 vs 7.15 p = 0.23). The predictive cutoff points for CSNHL were CBI = 3.6 mm, CAN = 1.4 mm, CH = 3.4 mm, CW = 7.0 mm, and VA = 0.9 mm. Conclusion Congenital sensorineural hearing loss determined a decrease in CBI, opening of the cochlear nerve (OCN), and CW. Thus, these measures, at the cutoff points indicated, should make us aware of the diagnosis of congenital hearing loss.

Assessment of Peripheral and Central Auditory Processing after Treatment for Idiopathic Sudden Sensorineural Hearing Loss.

Introduction When cases of idiopathic sudden sensorineural hearing loss (SSNHL) are treated successfully, most clinicians assume the normality and symmetry of the auditory processing. This assumption is based on the recovery of the detection ability on the part of the patients, but the auditory processing involves much more than detection alone. Since certain studies have suggested a possible involvement of the central auditory system during the acute phase of sudden hearing loss, the present study hypothesized that auditory processing would be asymmetric in people who have experienced sudden hearing loss. Objective To assess the physiologic and electrophysiological conditions of the cochlea and central auditory system, as well as behavioral discrimination, of three primary aspects of sound (intensity, frequency, and time) in subjects with normal ears and ears treated successfully for SSNHL. Methods The study included 19 SSNHL patients whose normal and treated ears were assessed for otoacoustic emissions, speech auditory brainstem response, intensity and pitch discrimination, and temporal resolution in a within-subject design. Results The otoacoustic emissions were poorer in the treated ears compared to the normal ears. Ear- and sex-dependent differences were observed regarding otoacoustic emissions and pitch discrimination. Conclusion The asymmetrical processing observed in the present study was not consistent with the hearing threshold values, which might suggest that the central auditory system would be affected regardless of the status of the peripheral hearing. Further experiments with larger samples, different recovery scenarios after treatment, and other assessments are required.

Contribution of Temporal Fine Structure Cues to Concurrent Vowel Identification and Perception of Zebra Speech.

Introduction The limited access to temporal fine structure (TFS) cues is a reason for reduced speech-in-noise recognition in cochlear implant (CI) users. The CI signal processing schemes like electroacoustic stimulation (EAS) and fine structure processing (FSP) encode TFS in the low frequency whereas theoretical strategies such as frequency amplitude modulation encoder (FAME) encode TFS in all the bands. Objective The present study compared the effect of simulated CI signal processing schemes that either encode no TFS, TFS information in all bands, or TFS only in low-frequency bands on concurrent vowel identification (CVI) and Zebra speech perception (ZSP). Methods Temporal fine structure information was systematically manipulated using a 30-band sine-wave (SV) vocoder. The TFS was either absent (SV) or presented in all the bands as frequency modulations simulating the FAME algorithm or only in bands below 525 Hz to simulate EAS. Concurrent vowel identification and ZSP were measured under each condition in 15 adults with normal hearing. Results The CVI scores did not differ between the 3 schemes (F (2, 28) = 0.62, p = 0.55, η 2 p = 0.04). The effect of encoding TFS was observed for ZSP (F (2, 28) = 5.73, p = 0.008, η 2 p = 0.29). Perception of Zebra speech was significantly better with EAS and FAME than with SV. There was no significant difference in ZSP scores obtained with EAS and FAME ( p = 1.00) Conclusion For ZSP, the TFS cues from FAME and EAS resulted in equivalent improvements in performance compared to the SV scheme. The presence or absence of TFS did not affect the CVI scores.

Hypertrophic Pachymeningitis, Associated with Eosinophilic Granulomatosis with Polyangiitis, and ANCA-Negative Serology.

Background: Hypertrophic pachymeningitis (HP) is a disease with diverse aetiologies, including the autoimmune one, either associated with antineutrophil cytoplasmic antibodies or immunoglobulin G4. Case description: A 65-year-old woman with a history of systemic arterial hypertension, presented with intense progressive headaches. HP and hemispheric vasogenic oedema were observed by nuclear magnetic resonance (NMR) study. During the six months before the headache, she had developed progressive hearing loss which she attributed to age. A biopsy of dura mater showed necrotising vasculitis with peripheral inflammatory infiltrate, made up of accumulations of epithelioid cells and multinucleated giant cells, and abundant eosinophils. A final diagnosis of HP with eosinophilic granulomatosis with polyangiitis (EGPA) was made. Discussion: The patient had eosinophilic granulomatosis with polyangiitis (EGPA) histology, ANCA-negative serology and HP. This case is important because it shows that EGPA seems to have a spectrum of clinical diseases, including HP with negative serology, and bilateral sensorineural hearing loss. Conclusion: We are facing a wide spectrum of EGPA, breaking the paradigm of only systemic involvement. LEARNING POINTS: Hypertrophic pachymeningitis (HP) has several aetiologies; if the systemic investigation is not contributory to a diagnosis, a meningeal biopsy is necessary.This is the first case report of HP, associated with eosinophilic granulomatosis with polyangiitis (EGPA), and ANCA-negative serology.EGPA is probably a spectrum of diseases with predominant systemic involvement, but there may be cases where there is histological evidence, without the systemic context or positive serology.

Time Trend of Occupational Noise-induced Hearing Loss in a Metallurgical Plant With a Hearing Conservation Program.

Background: This study aimed to analyze the trend of occupational noise-induced hearing loss (ONIHL) in Brazilian workers at a metallurgical plant with a hearing conservation program (HCP), which has been addressed in a previous study. Methods: All 152 workers in this time series (20032018) participated in the HCP and used personal protective equipment. All annual audiometry records in the company's software were collected from the electronic database. The trend of ONIHL was analyzed with the joinpoint regression model. The hearing thresholds of ONIHL cases at the end of the series were compared with those found in a national reference study. Results: The binaural mean hearing thresholds at 3, 4, and 6 kHz at the end of the series were higher for ages ≥50 years, exposures ≥85 dB (A), time since admission >20 years, and maintenance workers. Significance was found only in the group divided by age. There was an increasing time trend of ONIHL, though with a low percentage variation for the period (AAPC = 3.5%; p = 0.01). Hearing thresholds in this study differed from the reference one. Conclusion: Despite the unmet expectation of a stationary trend in the study period, the time pace of ONIHL evolution did not follow what was expected for a population exposed to noise. These findings signal to the scientific community and public authorities that good ONIHL control is possible when HCP is well implemented.