RESUMO
BACKGROUND AND PURPOSE: The vestibular ganglion, or Scarpa's ganglion, is a cluster of afferent vestibular neurons within the internal auditory canal (IAC). There is minimal literature describing enhancement of this region on magnetic resonance imaging (MRI) and its correlation to clinical symptoms. Here, we sought to find the prevalence of enhancement at Scarpa's ganglion, and determine whether such enhancement correlates with demographics or clinical symptoms. MATERIALS AND METHODS: A retrospective review was performed of consecutive patients with an MRI of the IAC between 3/1/2021 and 5/20/2021. Two neuroradiologists independently reviewed for T1 and FLAIR enhancement of the Scarpa's ganglion on post-contrast fat-saturated T1 and post-contrast FLAIR images. Discrepancies were agreed upon by consensus. Clinical variables (hearing loss, vestibular symptoms, tinnitus, and MRI indication) were gathered from a retrospective chart review. RESULTS: Eighty-nine patients were included (51 female); the mean age was 58 (range 19-85). The most common MRI indication was hearing loss (n = 53). FLAIR enhancement was present on the right in 7 patients, on the left in 7 patients, and bilaterally in 6 patients. No enhancement was seen on post-contrast T1 images. There was no statistically significant correlation between consensus FLAIR on at least one side and age (p = .74), gender (p = .29), hearing loss (p = .32), hearing loss side (p = .39), type of hearing loss (p = .87), vestibular symptoms (p = .71), or tinnitus (p = .81). CONCLUSIONS: Enhancement is present in the minority of patients on post-contrast FLAIR images. If seen, it should be considered an uncommon but not unexpected finding with no clinical significance.
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Imageamento por Ressonância Magnética , Humanos , Feminino , Masculino , Imageamento por Ressonância Magnética/métodos , Estudos Retrospectivos , Pessoa de Meia-Idade , Adulto , Idoso , Idoso de 80 Anos ou mais , Prevalência , Zumbido/diagnóstico por imagem , Adulto Jovem , Perda Auditiva/diagnóstico por imagemRESUMO
PURPOSE: Vestibular schwannoma is a benign tumor originating from Schwann cells surrounding the eighth cranial nerve and can cause hearing loss, tinnitus, balance problems, and facial nerve disorders. Because of the slow growth of the tumor, predicting the hearing function of patients with vestibular schwannoma's is important to obtain information that would be useful for deciding the treatment modality. This study aimed to analyze the association between magnetic resonance imaging features and hearing status using a new radiomics technique. METHODS: We retrospectively analyzed 115 magnetic resonance images and hearing results from 73 patients with vestibular schwannoma. A total of 70 radiomics features from each tumor volume were calculated using T1-weighted magnetic resonance imaging. Radiomics features were classified as histogram-based, shape-based, texture-based, and filter-based. The least absolute shrinkage and selection operator method was used to select the radiomics features among the 70 features that best predicted the hearing test. To ensure the stability of the selected features, the least absolute shrinkage and selection operator method was repeated 10 times. Finally, features set five or more times were selected as radiomics signatures. RESULTS: The radiomics signatures selected using the least absolute shrinkage and selection operator method were: minimum, variance, maximum 3D diameter, size zone variance, log skewness, skewness slope, and kurtosis slope. In random forest, the mean performance was 0.66 (0.63-0.77), and the most important feature was Log skewness. CONCLUSIONS: Newly developed radiomics features are associated with hearing status in patients with vestibular schwannoma and could provide information when deciding the treatment modality.
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Imageamento por Ressonância Magnética , Neuroma Acústico , Humanos , Neuroma Acústico/diagnóstico por imagem , Neuroma Acústico/complicações , Feminino , Masculino , Estudos Retrospectivos , Pessoa de Meia-Idade , Imageamento por Ressonância Magnética/métodos , Adulto , Idoso , Perda Auditiva/etiologia , Perda Auditiva/diagnóstico por imagem , Adulto Jovem , Testes Auditivos , Audição/fisiologia , RadiômicaRESUMO
OBJECTIVE: To investigate the association between standard pure tone and speech audiometry with neuroimaging characteristics reflective of aging and dementia in older adults. STUDY DESIGN: Prospective population-based study. SETTING: Single tertiary care referral center. METHODS: Participants from the Mayo Clinic Study of aging 60 years old or older with normal cognition or mild cognitive impairment, baseline neuroimaging, and a behavioral audiogram associated with neuroimaging were eligible for study. Imaging modalities included structural MRI (sMRI) and fluid-attenuated inversion recovery MRI (FLAIR-MRI; N = 605), diffusion tensor imaging MRI (DTI-MRI; N = 444), and fluorodeoxyglucose-positron emission tomography (FDG-PET; N = 413). Multivariable logistic and linear regression models were used to evaluate associations with neuroimaging outcomes. RESULTS: Mean (SD) pure tone average (PTA) was 33 (15) dB HL and mean (SD) word recognition score (WRS) was 91% (14). There were no significant associations between audiometric performance and cortical thinning assessed by sMRI. Each 10-dB increase in PTA was associated with increased likelihood of abnormal white-matter hyperintensity (WMH) from FLAIR-MRI (odds ratio 1.26, P = .02). From DTI-MRI, participants with <100% WRSs had significantly lower fractional anisotropy in the genu of the corpus callosum (parameter estimate [PE] -0.012, P = .008) compared to those with perfect WRSs. From FDG-PET, each 10% decrease in WRSs was associated with decreased uptake in the anterior cingulate cortex (PE -0.013, P = .001). CONCLUSION: Poorer audiometric performance was not significantly associated with cortical thinning but was associated with white matter damage relevant to cerebrovascular disease (increased abnormal WMH, decreased corpus callosum diffusion). These neuroimaging results suggest a pathophysiologic link between hearing loss and cerebrovascular disease.
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Transtornos Cerebrovasculares , Surdez , Perda Auditiva , Humanos , Idoso , Pessoa de Meia-Idade , Imagem de Tensor de Difusão/métodos , Fluordesoxiglucose F18 , Afinamento Cortical Cerebral , Estudos Prospectivos , Neuroimagem , Envelhecimento , Perda Auditiva/diagnóstico por imagemRESUMO
INTRODUCTION: The aim of the study was to investigate differences in the intra- and inter-network functional connectivity (FC) of the brain using resting-state functional magnetic resonance imaging (rs-fMRI) in patients with tinnitus, with (T + H) or without hearing loss (T). METHODS: We performed rs-fMRI on 82 participants (21 T, 32 T + H, and 29 healthy controls). An independent component analysis (ICA) was performed to obtain the resting-state networks (RSNs) and calculate the differences in FC. Moreover, we investigated the relationships between networks using functional network connectivity analysis. RESULTS: We identified nine major RSNs, including the auditory network; default mode network; executive control network (ECN), including the right frontoparietal network and left frontoparietal network (LFPN); somatomotor network (SMN); dorsal attention network; ventral attention network; salience network (SN); and visual network (VN). These RSNs were extracted in all groups using ICA. Compared with that in the control group, we observed reduced FC between the LFPN and VN in the T group and between the LFPN and SN in the T + H group. The inter-network connectivity analysis revealed decreased network interactions in the SMN (IC 22)-ECN (IC 2), SMN (IC 22)-VN (IC 8), and VN (IC 14)-SN (IC 3) connections in the T + H group, compared with the healthy control group. Furthermore, we observed significantly decreased network interactions in the SMN (IC 22)-VN (IC 8) in the T group. CONCLUSIONS: Our results indicated abnormalities within the brain networks of the T and T + H groups, including the SMN, ECN, and VN, compared with the control group. Furthermore, both T and T + H groups demonstrated reduced FC between the LFPN, VN, and SMN. There were no significant differences between the T and the T + H groups. Furthermore, we observed reduced FC between the right olfactory cortex and the orbital part of the right middle frontal gyrus, right precentral gyrus, left dorsolateral superior frontal gyrus, and right triangular part of the inferior frontal gyrus within the T and T + H groups. Thus, disruptions in brain regions responsible for attention, stimulus monitoring, and auditory orientation contribute to tinnitus generation.
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Surdez , Perda Auditiva , Zumbido , Humanos , Mapeamento Encefálico/métodos , Zumbido/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Encéfalo/diagnóstico por imagem , Perda Auditiva/diagnóstico por imagemRESUMO
Pattern recognition of specific temporal bone radiological phenotypes, in association with abnormalities in other organ systems, is critical in the diagnosis and management of syndromic causes of hearing loss. Several recent publications have demonstrated the presence of specific radiological appearances, allowing precise genetic and/or syndromic diagnosis, in the right clinical context. This review article aims to provide an extensive but practical guide to the radiologist dealing with syndromic causes of hearing loss.
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Perda Auditiva , Radiologia , Criança , Humanos , Perda Auditiva/diagnóstico por imagem , Perda Auditiva/etiologia , RadiologistasRESUMO
OBJECTIVE: Morphological features of an enlarged endolymphatic duct (ED) and sac (ES) are imaging biomarkers for genotype and hearing loss phenotype. We determine which biomarkers can be measured in a reproducible manner, facilitating further clinical prediction studies in enlarged vestibular aqueduct hearing loss. METHODS: A rater reproducibility study. Three consultant radiologists independently measured previously reported MRI ED & ES biomarkers (ED midpoint width, maximal ED diameter closest to the vestibule, ES length, ES width and presence of ES signal heterogeneity) and presence of incomplete partition Type 2 from 80 ears (T2 weighted axial MRI). Interclass correlation coefficients (ICC) and Gwet's Agreement Coefficients (AC) were generated to give a measure of reproducibility for both continuous and categorical feature measures respectively. RESULTS: ES length, width and sac signal heterogeneity showed adequate reproducibility (ICC 95% confidence intervals 0.77-0.95, Gwet's AC for sac heterogeneity 0.64). When determining ED midpoint width, measurements from multiple raters are required for "good" reliability (ICC 95% CI 0.75-0.89). Agreement on the presence of incomplete partition Type 2 ranged from "moderate" to "substantial". CONCLUSIONS: Regarding MR imaging, the opinion of multiple expert raters should be sought when determining the presence of an enlarged ED defined by midpoint width. ED midpoint, ES length, width and signal heterogeneity have adequate reproducibility to be further explored as clinical predictors for audiological phenotype. ADVANCES IN KNOWLEDGE: We report which ED & ES biomarkers are reproducibly measured. Researchers can confidently utilise these specific biomarkers when modelling progressive hearing loss associated with enlarged vestibular aqueduct.
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Perda Auditiva Neurossensorial , Perda Auditiva , Humanos , Reprodutibilidade dos Testes , Estudos Retrospectivos , Tomografia Computadorizada por Raios X , Perda Auditiva Neurossensorial/diagnóstico por imagem , Perda Auditiva/diagnóstico por imagem , Imageamento por Ressonância Magnética , Hipertrofia , BiomarcadoresRESUMO
Alpha-mannosidase catalyze lysosomal cleaving of mannose residues from glycoproteins. The enzyme is encoded by the MAN2B1 gene. Biallelic pathogenic variants cause enzymatic deficiency, which clinically results in alpha-mannosidosis (AM), an autosomal recessively inherited condition. Typical features observed in AM patients include intellectual disability, loss of speech, dysmorphic features, progressive motor problems, ataxia, hearing impairment and recurrent otitis. The cause of the latter is mainly attributed to immunodeficiency. The aim of our study was to demonstrate the otolaryngologic and hearing outcomes in patients with AM. The study group consisted of 8 AM patients: 6 males and 2 females, aged 2.5-37 yrs. The clinical course, dysmorphic ENT features, hearing status and the HRCT scans of the temporal bones were analyzed. MS Excel for Windows and Statistica software package were used for the comparison of interaural audiometric loss, mean hearing loss and mean hearing threshold for each patient's audiometric frequency tested. We identified ENT dysmorphic features in all of our AM patients, while the hearing loss was detected in 6 out of our 8 patients. For those cases, the onset of deafness was noted in the first decade of life, this impairment was sensorineural, of cochlear origin, bilateral, of a moderate degree (mean loss 62.76 dB; median 60 dB, standard deviation 12.5 dB), symmetrical and stable. The shape of the audiometric curves of our patients can be described as slightly sloping towards the higher tested frequencies, with a marked improvement at 4 kHz. The radiological examination revealed normal structures of the ears, with the exception of one case where a persistent otitis generated a cochlear gap. We therefore concluded that the hearing loss in our AM patients derived from cochlear impairment unrelated with recurrent otitis.
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Perda Auditiva Neurossensorial , Perda Auditiva , alfa-Manosidose , Masculino , Feminino , Humanos , alfa-Manosidose/diagnóstico por imagem , alfa-Manosidose/genética , alfa-Manosidose/patologia , Polônia , Perda Auditiva/diagnóstico por imagem , Perda Auditiva/genética , alfa-Manosidase/química , alfa-Manosidase/genética , AudiometriaRESUMO
Hearing loss is one of the most common indications for temporal bone imaging in children. Hearing loss may be congenital or acquired, and it may be conductive, sensorineural, or mixed audiologically. Temporal bone imaging plays an important role in the assessment and management of this condition. An understanding of the embryology of ear structures better enables the radiologist to interpret abnormalities on imaging of the temporal bone. Here, we provide a general review of ear development and a description of known genetic defects that contribute to congenital ear anomalies associated with hearing loss. We provide appropriate imaging techniques for the temporal bone depending on the clinical presentation and a systematic approach to imaging for children with hearing loss. Diagnostic imaging for developmental anomalies of the ear and cholesteatoma will be discussed.
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Perda Auditiva Condutiva , Perda Auditiva , Criança , Perda Auditiva/diagnóstico por imagem , Humanos , Radiologistas , Osso Temporal/diagnóstico por imagem , Tomografia Computadorizada por Raios XRESUMO
BACKGROUND: Hearing loss was recently identified as a modifiable risk factor for dementia although the potential mechanisms explaining this relationship are unknown. OBJECTIVE: The current study examined longitudinal change in resting-state fMRI functional connectivity and gray matter volume in individuals who developed a hearing impairment compared to those whose hearing remained normal. METHODS: This study included 440 participants from the UK Biobank: 163 who had normal hearing at baseline and impaired hearing at follow-up (i.e., converters, mean ageâ=â63.11±6.33, 53% female) and 277 who had normal hearing at baseline and maintained normal hearing at follow-up (i.e., non-converters, ageâ=â63.31±5.50, 50% female). Functional connectivity was computed between a priori selected auditory seed regions (left and right Heschl's gyrus and cytoarchitectonic subregions Te1.0, Te1.1, and Te1.2) and select higher-order cognitive brain networks. Gray matter volume within these same regions was also obtained. RESULTS: Converters had increased connectivity from left Heschl's gyrus to left anterior insula and from right Heschl's gyrus to right anterior insula, and decreased connectivity between right Heschl's gyrus and right hippocampus, compared to non-converters. Converters also had reduced gray matter volume in left hippocampus and left lateral visual cortex compared to non-converters. CONCLUSION: These findings suggest that conversion to a hearing impairment is associated with altered brain functional connectivity and gray matter volume in the attention, memory, and visual processing regions that were examined in this study.
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Córtex Auditivo , Perda Auditiva , Idoso , Mapeamento Encefálico , Feminino , Substância Cinzenta/diagnóstico por imagem , Perda Auditiva/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética , MasculinoRESUMO
OBJECTIVES: |The aim of this study was to evaluate the use of volumetric HRCT measurements in the diagnosis of enlarged vestibular aqueduct syndrome (EVAS) and describe the association of this novel radiographic approach with clinical hearing outcomes. We hypothesized that volumetric measurements may have stronger correlation to hearing loss given the anatomic variability of the vestibular aqueduct in linear measurements. METHODS: A retrospective study design was used, including 51 patients that fit the inclusion criteria for the study for a total of 81 ears. 3D volumes were calculated using the MIM Software platform (MIM Software Inc.) from semiautomatic segmentation of the VA across individual slices on CT scan. Air and bone conduction data was collected from medical records with the air-bone gap being calculated from these data. Univariate and multivariate analyses were conducted to determine if volumetric VA size correlated with hearing loss outcomes. RESULTS: Out of the study population, 30 subjects (58.8%) demonstrated bilateral EVA. Average VA size estimated by volumetric CT methodology was 0.035 mm3; sd = 0.025 mm3. Volumetric measurements significantly correlated to both midpoint length and operculum size. Multivariate analysis adjusting for age, race, and gender demonstrated significant correlation between volumetric VA size and both low and high frequencies for PTA Air (p = 0.009; 0.010) and PTA Bone (p = 0.027; 0.002), respectively. Of note, the coefficient values for volumetric data were higher than linear measurements showing a potentially stronger correlation, albeit with high variability. Volumetric size was not significantly correlated to air-bone gap at either low or high frequency (p = 0.335; 0.062). CONCLUSION: Our results indicate that volumetric CT measurements of the VA may be a valid and viable new method for assessing EVAS patients. In our study, volumetric VA measurements demonstrated a strong correlation across both air and bone conduction at both frequency ranges measured, with potentially greater correlative strength than linear measurements.
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Perda Auditiva Neurossensorial , Perda Auditiva , Aqueduto Vestibular , Criança , Perda Auditiva/complicações , Perda Auditiva/diagnóstico por imagem , Perda Auditiva Neurossensorial/complicações , Perda Auditiva Neurossensorial/diagnóstico por imagem , Humanos , Estudos Retrospectivos , Aqueduto Vestibular/anormalidades , Aqueduto Vestibular/diagnóstico por imagemRESUMO
PURPOSE: The present study combined resting-state functional connectivity (FC) and Granger causality analysis (GCA) to explore frontostriatal network dysfunction in unilateral acute tinnitus (AT) patients with hearing loss. METHODS: The participants included 42 AT patients and 43 healthy control (HC) subjects who underwent resting-state functional magnetic resonance imaging (fMRI) scans. Based on the seed regions in the frontostriatal network, FC and GCA were conducted between the AT patients and HC subjects. Correlation analyses were used to examine correlations among altered FC values, GCA values, and clinical features in AT patients. RESULTS: Compared with HCs, AT patients showed a general reduction in FC between the seed regions in the frontostriatal network and nonauditory areas, including the frontal cortices, midcingulate cortex (MCC), supramarginal gyrus, and postcentral gyrus (PoCG). Using the GCA algorithm, we detected abnormal effective connectivity (EC) in the inferior occipital gyrus, MCC, Cerebelum_Crus1, and PoCG. Furthermore, correlations between disrupted FC/EC and clinical characteristics, especially tinnitus distress-related characteristics, were found in AT patients. CONCLUSIONS: Our work demonstrated abnormal FC and EC between the frontostriatal network and several nonauditory regions in AT patients with hearing loss, suggesting that multiple large-scale network dysfunctions and interactions are involved in the perception of tinnitus. These findings not only enhance the current understanding of the frontostriatal network in tinnitus but also serve as a reminder of the importance of focusing on tinnitus at an early stage.
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Perda Auditiva , Zumbido , Mapeamento Encefálico , Giro do Cíngulo , Perda Auditiva/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética , Zumbido/diagnóstico por imagemRESUMO
Neuromodulation treatment effect size for bothersome tinnitus may be larger and more predictable by adopting a target selection approach guided by personalized striatal networks or functional connectivity maps. Several corticostriatal mechanisms are likely to play a role in tinnitus, including the dorsal/ventral striatum and the putamen. We examined whether significant tinnitus treatment response by deep brain stimulation (DBS) of the caudate nucleus may be related to striatal network increased functional connectivity with tinnitus networks that involve the auditory cortex or ventral cerebellum. The first study was a cross-sectional 2-by-2 factorial design (tinnitus, no tinnitus; hearing loss, normal hearing, n = 68) to define cohort level abnormal functional connectivity maps using high-field 7.0 T resting-state fMRI. The second study was a pilot case-control series (n = 2) to examine whether tinnitus modulation response to caudate tail subdivision stimulation would be contingent on individual level striatal connectivity map relationships with tinnitus networks. Resting-state fMRI identified five caudate subdivisions with abnormal cohort level functional connectivity maps. Of those, two connectivity maps exhibited increased connectivity with tinnitus networks-dorsal caudate head with Heschl's gyrus and caudate tail with the ventral cerebellum. DBS of the caudate tail in the case-series responder resulted in dramatic reductions in tinnitus severity and loudness, in contrast to the nonresponder who showed no tinnitus modulation. The individual level connectivity map of the responder was in alignment with the cohort expectation connectivity map, where the caudate tail exhibited increased connectivity with tinnitus networks, whereas the nonresponder individual level connectivity map did not.
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Córtex Auditivo/fisiopatologia , Núcleo Caudado/fisiopatologia , Cerebelo/fisiopatologia , Conectoma , Estimulação Encefálica Profunda , Perda Auditiva/fisiopatologia , Rede Nervosa/fisiopatologia , Zumbido/fisiopatologia , Zumbido/terapia , Adulto , Idoso , Córtex Auditivo/diagnóstico por imagem , Estudos de Casos e Controles , Núcleo Caudado/diagnóstico por imagem , Cerebelo/diagnóstico por imagem , Estudos Transversais , Feminino , Perda Auditiva/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Rede Nervosa/diagnóstico por imagem , Zumbido/diagnóstico por imagemRESUMO
Subjective, chronic tinnitus, the perception of sound in the absence of an external source, commonly occurs with many comorbidities, making it a difficult condition to study. Hearing loss, often believed to be the driver for tinnitus, is perhaps one of the most significant comorbidities. In the present study, white matter correlates of tinnitus and hearing loss were examined. Diffusion imaging data were collected from 96 participants-43 with tinnitus and hearing loss (TINHL), 17 with tinnitus and normal hearing thresholds (TINNH), 17 controls with hearing loss (CONHL) and 19 controls with normal hearing (CONNH). Fractional anisotropy (FA), mean diffusivity and probabilistic tractography analyses were conducted on the diffusion imaging data. Analyses revealed differences in FA and structural connectivity specific to tinnitus, hearing loss, and both conditions when comorbid, suggesting the existence of tinnitus-specific neural networks. These findings also suggest that age plays an important role in neural plasticity, and thus may account for some of the variability of results in the literature. However, this effect is not seen in tractography results, where a sensitivity analysis revealed that age did not impact measures of network integration or segregation. Based on these results and previously reported findings, we propose an updated model of tinnitus, wherein the internal capsule and corpus callosum play important roles in the evaluation of, and neural plasticity in response to tinnitus.
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Imagem de Tensor de Difusão/métodos , Perda Auditiva/diagnóstico por imagem , Zumbido/diagnóstico por imagem , Substância Branca/diagnóstico por imagem , Adulto , Fatores Etários , Idoso , Anisotropia , Estudos de Casos e Controles , Comorbidade , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Plasticidade Neuronal , Interpretação de Imagem Radiográfica Assistida por ComputadorRESUMO
Long-term unilateral hearing loss could reorganize the functional network association between the bilateral auditory cortices, while alterations of other functional networks need to be further explored. We attempted to investigate the pattern of the reorganization of functional network associations between the auditory and visual cortex caused by long-term postlingual unilateral hearing loss (UHI) and its relationship with clinical characteristics. Therefore, 48 patients with hearing loss caused by unilateral acoustic tumors and 52 matched healthy controls were enrolled, and their high-resolution structural MRI and resting-state functional MRI data were also collected to depict the brain network. Degree centrality (DC) was employed to evaluate the functional network association of the auditory-visual network interaction. Group comparisons were performed to investigate the network reorganization, and its correlations with clinical data were calculated. Compared with the healthy control group, patients with UHI showed significantly increased DC between the auditory network (superior temporal gyrus and the medial geniculate body) and the visual network. Meanwhile, this difference was positively correlated with the extent of hearing impairment, and the correlation was more significant with the ipsilateral superior temporal gyrus in cases of acoustic neuroma. These results suggest that long-term unilateral hearing impairment may lead to enhancement of the visual-auditory network interactions and that the degree of reorganization is positively correlated with the pure tone average (PTA) and is more significant for the ipsilateral superior temporal gyrus, which provides clinical evidence regarding cross-modal plasticity in the UHI and its lateralization.
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Córtex Auditivo/diagnóstico por imagem , Perda Auditiva/diagnóstico por imagem , Rede Nervosa/diagnóstico por imagem , Neuroma Acústico/diagnóstico por imagem , Córtex Visual/diagnóstico por imagem , Adulto , Córtex Auditivo/fisiologia , Mapeamento Encefálico/métodos , Feminino , Perda Auditiva/fisiopatologia , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Rede Nervosa/fisiologia , Neuroma Acústico/fisiopatologia , Córtex Visual/fisiologiaRESUMO
OBJECTIVES: To investigate neuroanatomic volume differences in tinnitus and hearing loss. STUDY DESIGN: Cross-sectional. METHODS: Sixteen regions of interest (ROIs) in adults (43 male, 29 female) were examined using 3Tesla structural magnetic resonance imaging in four cohorts: 1) tinnitus with moderate hearing loss (N = 31), 2) moderate hearing loss only (N = 15), 3) tinnitus with normal hearing (N = 17), and 4) normal hearing only (N = 13). ROI volumes were corrected for brain size, age, and sex variations. Analysis of covariance (ANCOVA) and post hoc Tukey's test were used to isolate the effects of tinnitus and hearing loss on volume differences. Effect sizes were calculated as the fraction of total variance (η2 ) in ANCOVA models and percent of mean volume difference relative to mean total volume. RESULTS: The four cohort ANCOVA revealed tinnitus and hearing loss cohorts to have increased volume in the corona radiata (η2 = 0.192; P = .0018) and decreased volume in the nucleus accumbens (η2 = 0.252; P < .0001), caudate nucleus (η2 = 0.188; P = .002), and inferior fronto-occipital fasciculus (η2 = 0.250; P = .0001). Tinnitus with normal hearing showed decreased volume in the nucleus accumbens (22.0%; P = .001) and inferior fronto-occipital fasciculus (18.1%; P = .002), and hearing loss only showed increased volume in the corona radiata (10.7%; P = .01) and decreased volume in the nucleus accumbens (22.1%; P = .001), caudate nucleus (16.1%; P = .004), and inferior fronto-occipital fasciculus (18.3%; P = .003). CONCLUSION: Tinnitus and hearing loss have overlapping effects on neurovolumetric alterations, especially impacting the nucleus accumbens and inferior fronto-occipital fasciculus. Neurovolumetric studies on tinnitus or hearing loss can be more complete by accounting for those two clinical dimensions separately and jointly. LEVEL OF EVIDENCE: 3 Laryngoscope, 131:1863-1868, 2021.
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Encéfalo/patologia , Perda Auditiva/patologia , Imageamento por Ressonância Magnética , Rede Nervosa/patologia , Zumbido/patologia , Adulto , Idoso , Análise de Variância , Encéfalo/diagnóstico por imagem , Estudos Transversais , Feminino , Lobo Frontal/diagnóstico por imagem , Lobo Frontal/patologia , Perda Auditiva/diagnóstico por imagem , Humanos , Masculino , Pessoa de Meia-Idade , Rede Nervosa/diagnóstico por imagem , Núcleo Accumbens/diagnóstico por imagem , Núcleo Accumbens/patologia , Lobo Occipital/diagnóstico por imagem , Lobo Occipital/patologia , Tamanho do Órgão , Zumbido/diagnóstico por imagemRESUMO
OBJECTIVES: To study computed tomography findings in Paget's disease of temporal bone (PDTB) and analyze the relations between otic capsule bone mineral density values measured in Hounsfield Units (HU) and hearing loss (HL). STUDY DESIGN: Observational case-control study. SETTING: Tertiary referral center. PATIENTS: Radiographically confirmed PDTB cases and control group. INTERVENTION: Diagnostic. MAIN OUTCOME MEASURES: Hearing thresholds and computed tomography bone density values. RESULTS: Twenty-three ears in the case group (PDTB) and 27 control ears were included. In the PDTB group, HL was found in 87% of the ears (43% mixed) and an air-conduction threshold of 50.7âdB (SDâ=â19.8). In the control group, 48% of the ears showed HL (7% mixed) and an air-conduction threshold of 34.5âdB (SDâ=â20.6) was found; the difference was statistically significant (pâ<â0.05). Measurements of bone density (HU) in the otic capsule (regions of interest [ROI] 1 and 2) and in the petrous bone (ROI 3) were significantly lower (pâ<â0.05) in the PDTB group than in controls.The PDTB group presented a significant association between otic capsule bone density in ROI 1 and mean otic capsule density with air and bone-conduction thresholds (pâ<â0.05). In controls, no association was observed between any density value and audiometric thresholds. CONCLUSION: PDTB patients showed more frequent HL, lower thresholds, and a higher proportion of mixed HL than controls. Bone density (HU) was decreased in all ROIs in PDTB patients in comparison with controls. Bone density in the otic capsule was associated with HL in PDTB patients, but no association was observed between bone density and HL in controls.
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Densidade Óssea , Perda Auditiva , Estudos de Casos e Controles , Perda Auditiva/diagnóstico por imagem , Perda Auditiva/etiologia , Humanos , Osso Temporal/diagnóstico por imagem , Tomografia Computadorizada por Raios XRESUMO
While newborns and children with hearing loss are routinely offered genetic testing, adults are rarely clinically tested for a genetic etiology. One clinically actionable result from genetic testing in children is the discovery of variants in syndromic hearing loss genes. EYA4 is a known hearing loss gene which is also involved in important pathways in cardiac tissue. The pleiotropic effects of rare EYA4 variants are poorly understood and their prevalence in a large cohort has not been previously reported. We investigated cardio-auditory phenotypes in 11,451 individuals in a large biobank using a rare variant, genome-first approach to EYA4. We filtered 256 EYA4 variants carried by 6737 participants to 26 rare and predicted deleterious variants carried by 42 heterozygotes. We aggregated predicted deleterious EYA4 gene variants into a combined variable (i.e. "gene burden") and performed association studies across phenotypes compared to wildtype controls. We validated findings with replication in three independent cohorts and human tissue expression data. EYA4 gene burden was significantly associated with audiometric-proven HL (p = [Formula: see text], Mobitz Type II AV block (p = [Formula: see text]) and the syndromic presentation of HL and primary cardiomyopathy (p = 0.0194). Analyses on audiogram, echocardiogram, and electrocardiogram data validated these associations. Prior reports have focused on identifying variants in families with severe or syndromic phenotypes. In contrast, we found, using a genotype-first approach, that gene burden in EYA4 is associated with more subtle cardio-auditory phenotypes in an adult medical biobank population, including cardiac conduction disorders which have not been previously reported. We show the value of using a focused approach to uncover human disease related to pleiotropic gene variants and suggest a role for genetic testing in adults presenting with hearing loss.
Assuntos
Cardiomiopatias/genética , Genoma Humano , Perda Auditiva/genética , Mutação , Transativadores/genética , Audiometria , Bancos de Espécimes Biológicos , População Negra , Cardiomiopatias/diagnóstico por imagem , Cardiomiopatias/etnologia , Cardiomiopatias/patologia , Ecocardiografia , Eletrocardiografia , Expressão Gênica , Perda Auditiva/diagnóstico por imagem , Perda Auditiva/etnologia , Perda Auditiva/patologia , Humanos , Masculino , Pennsylvania , Fenótipo , Índice de Gravidade de Doença , População Branca , Sequenciamento do ExomaRESUMO
Ferredoxin reductase (FDXR), located in 17q25.1, encodes for a mitochondrial NADPH: adrenodoxin oxidoreductase or ferredoxin reductase, the sole human ferredoxin reductase involved in the biosynthesis of iron-sulfur (Fe-S) clusters and heme formation. Iron-sulfur (Fe-S) clusters are involved in enzymatic catalysis, gene expression, and DNA replication and repair. Variants in FDXR lead to sensorial neuropathies, damage optic, and auditory neurons. Here, we report a Chinese boy with hearing loss, visual impairment, and motor retardation, with two novel compound heterozygous variants in FDXR (NM_004110), namely, c.250C > T (p.P84S) and c.634G > C (p.D212H), identified by whole-exome sequencing. Compared with the reported cases, except hearing loss and visual impairment, the clinical manifestations of this boy were more serious, who also had motor retardation and died in infancy after infection. The present study expands our knowledge of FDXR variants and related phenotypes, and provides new information on the genetic defects associated with this disease for clinical diagnosis.