ABSTRACT
PURPOSE: To explore the microstate characteristics and underlying brain network activity of Ménière's disease (MD) patients based on high-density electroencephalography (EEG), elucidate the association between microstate dynamics and clinical manifestation, and explore the potential of EEG microstate features as future neurobiomarkers for MD. METHODS: Thirty-two patients diagnosed with MD and 29 healthy controls (HC) matched for demographic characteristics were included in the study. Dysfunction and subjective symptom severity were assessed by neuropsychological questionnaires, pure tone audiometry, and vestibular function tests. Resting-state EEG recordings were obtained using a 256-channel EEG system, and the electric field topographies were clustered into four dominant microstate classes (A, B, C, and D). The dynamic parameters of each microstate were analyzed and utilized as input for a support vector machine (SVM) classifier to identify significant microstate signatures associated with MD. The clinical significance was further explored through Spearman correlation analysis. RESULTS: MD patients exhibited an increased presence of microstate class C and a decreased frequency of transitions between microstate class A and B, as well as between class A and D. The transitions from microstate class A to C were also elevated. Further analysis revealed a positive correlation between equilibrium scores and the transitions from microstate class A to C under somatosensory challenging conditions. Conversely, transitions between class A and B were negatively correlated with vertigo symptoms. No significant correlations were detected between these characteristics and auditory test results or emotional scores. Utilizing the microstate features identified via sequential backward selection, the linear SVM classifier achieved a sensitivity of 86.21% and a specificity of 90.61% in distinguishing MD patients from HC. CONCLUSIONS: We identified several EEG microstate characteristics in MD patients that facilitate postural control yet exacerbate subjective symptoms, and effectively discriminate MD from HC. The microstate features may offer a new approach for optimizing cognitive compensation strategies and exploring potential neurobiological markers in MD.
Subject(s)
Electroencephalography , Meniere Disease , Humans , Male , Female , Electroencephalography/methods , Meniere Disease/physiopathology , Meniere Disease/diagnosis , Meniere Disease/psychology , Middle Aged , Adult , Cognition/physiology , Adaptation, Physiological/physiology , Support Vector Machine , Neuropsychological Tests , AgedABSTRACT
OBJECTIVES: To evaluate the differences between audio-vestibular function testing and inner ear gadolinium magnetic resonance imaging (MRI) in distinguishing definite Ménière disease (DMD) and probable Ménière disease (PMD), and to provide a reference for early clinical diagnosis and intervention. METHODS: A total of 116 patients diagnosed with DMD (n = 80) and PMD (n = 36) were enrolled. The differences in the results of pure tone audiometry, caloric test, and tympanic injection of gadolinium for contrast-enhanced MRI between the two groups were compared and analyzed. Parameters that could differentiate between the two conditions were identified, and the sensitivity and specificity and the area under the curve (AUC) of individual and combined indices in the differential diagnosis of DMD and PMD were evaluated. RESULTS: The hearing threshold and hearing asymmetry rate of the DMD group were significantly higher than those of the PMD group (p < 0.001), 98.8% and 30.6%, respectively. The abnormal rates of canal paresis (CP) and severity of endolymphatic hydrops in the DMD group were higher than those in the PMD group (p < 0.05). When combined with high-frequency hearing thresholds, hearing asymmetry, hearing curve type, endolymphatic hydrops, and abnormal CP, the diagnostic accuracy of DMD was improved compared to using high-frequency alone (p < 0.05). CONCLUSION: This study showed that PMD and DMD may represent two different stages in the development of MD disease. The comprehensive assessment of audio-vestibular function testing and inner ear MRI proves beneficial for early diagnosis, potentially contributing to the preservation of inner ear function.
Subject(s)
Ear, Inner , Magnetic Resonance Imaging , Meniere Disease , Vestibular Function Tests , Humans , Meniere Disease/diagnostic imaging , Meniere Disease/diagnosis , Male , Female , Magnetic Resonance Imaging/methods , Middle Aged , Adult , Ear, Inner/diagnostic imaging , Ear, Inner/physiopathology , Vestibular Function Tests/methods , Aged , Diagnosis, Differential , Audiometry, Pure-Tone/methods , Caloric Tests , Gadolinium , Sensitivity and SpecificityABSTRACT
Objective: To investigate the disease composition, clinical features, diagnosis, and treatment characteristics of vertigo in children. Methods: A total of 120 children with vertigo diagnosed and treated in the Department of Otorhinolaryngology, Children's Hospital, Capital Institute of Pediatrics in Beijing from February 2018 to February 2022 were retrospectively analyzed to explore the clinical characteristics of common peripheral vertigo in children and to summarize the experience of diagnosis and treatment. Results: The etiological composition of 120 cases of vertigo in children are as follows: 63 (52.5%) cases of vestibular migraine of childhood (VMC), 19 (15.8%) of recurrent vertigo of childhood (RVC), 11 (9.2%) of probable vestibular migraine of childhood (PVMC), 10 (8.3%) of secretory otitis media (SOM), 6 (5.0%) of persistent postural-perceptual dizziness (PPPD), 4 (3.3%) of benign paroxysmal positional vertigo (BPPV), 2 (1.7%) of vestibular neuritis (VN), 2 (1.7%) of Meniere's disease (MD), 2 (1.7%) of inner ear malformation (IEM), and 1 (0.8%) of vestibular paroxysmal syndrome (VP).The major cause of vertigo in children of different ages was different. SOM was the most important cause in preschool children, followed by RVC and VMC; VMC was the most important cause in school-age children, followed by RVC; and MD and BPPV were exclusive found in adolescents. The incidence rate of PPPD was higher in adolescents than in preschool and school-age children. Children with vertigo had good prognosis in general. Conclusions: VMC, RVC and SOM are the most common causes in vertigo in children, and their proportion was different in different aged children. Transforming abstract feelings into specific information is the skill required for collecting medical history of children with vertigo. Considering the age and cooperation of children, appropriate hearing and vestibular examination techniques are recommended. We should pay more attention to the mental health of children with vertigo and their parents.
Subject(s)
Benign Paroxysmal Positional Vertigo , Dizziness , Vertigo , Humans , Vertigo/diagnosis , Child , Retrospective Studies , Dizziness/diagnosis , Dizziness/epidemiology , Benign Paroxysmal Positional Vertigo/diagnosis , Benign Paroxysmal Positional Vertigo/epidemiology , Migraine Disorders/diagnosis , Migraine Disorders/epidemiology , Meniere Disease/diagnosis , Meniere Disease/epidemiology , Vestibular Neuronitis/diagnosis , Vestibular Neuronitis/epidemiology , Adolescent , Female , Child, Preschool , MaleABSTRACT
Glucocorticoidsï¼GCï¼ are widely used in the clinical treatment of autoimmune inner ear diseases, sudden sensorineural hearing loss, Meniere's disease, sinusitis and other otolaryngology diseases. However, GC resistance remains a major factor contributing to the poor efficacy of clinical treatments. The mechanism of GC resistance is still unclear. This paper reviews the related mechanisms of GC resistance from the perspectives of GC receptor factors and non-GC receptor factors. Additionally, it summarizes the latest research progress on GC resistance in otolaryngological diseases, with the aim of identifying effective clinical alternative treatment options for reversing GC resistance in the future.
Subject(s)
Drug Resistance , Glucocorticoids , Otorhinolaryngologic Diseases , Receptors, Glucocorticoid , Humans , Glucocorticoids/therapeutic use , Otorhinolaryngologic Diseases/drug therapy , Receptors, Glucocorticoid/metabolism , Meniere Disease/drug therapyABSTRACT
OBJECTIVE: To systematically review how audiometric data change over time in patients with Menière's disease (MD) undergoing non-ablative medical therapy. DATABASES REVIEWED: Medline (via PubMed), Scopus, Web of Science, Cumulated Index to Nursing and Allied Health Literature (CINAHL), Google Scholar. METHODS: A systematic review and meta-analysis of the literature was performed. Adult patients undergoing non-ablative medical therapy and reported duration of disease or follow-up were included and pooled estimates of pure-tone average (PTA) were tabulated. Studies were excluded if they did not use established MD, did not have pure-tone average (PTA) audiometric data, underwent ear surgery or ablative therapies, and were systematic reviews or case reports. RESULTS: Out of 198 articles meeting full eligibility, 13 studies, involving 950 patients with MD, were included in the review and further analyzed. No effect on progression of PTA from initial diagnosis was seen between the different medical therapies within 2 years of non-ablative medical treatment. There was a significant worsening of PTA after 2 year, regardless of treatment used. High levels of heterogeneity among studies were noted up to 6 months from diagnosis ( I2 = 79%), likely reflecting differences in patient characteristics, treatment regimens, and study design. Overall, the risk of bias was low for the majority of included studies. CONCLUSIONS: Patients diagnosed with MD who are undergoing non-ablative medical therapy should be counseled on the likelihood of worsening of hearing loss over the course of the disease despite elected treatment.
Subject(s)
Disease Progression , Hearing Loss , Meniere Disease , Humans , Meniere Disease/therapy , Meniere Disease/surgery , Hearing Loss/etiology , Audiometry, Pure-ToneSubject(s)
Autoimmune Diseases , Meniere Disease , Humans , Meniere Disease/diagnosis , Meniere Disease/immunology , Male , Diagnosis, Differential , Autoimmune Diseases/diagnosis , Autoimmune Diseases/immunology , Female , Middle Aged , Adult , Ear, Inner/immunology , Audiometry, Pure-Tone , Aged , Labyrinth Diseases/immunology , Labyrinth Diseases/diagnosis , Head Impulse TestABSTRACT
BACKGROUND: Dizziness/vertigo is one of the most common symptoms for which people seek healthcare. However, the healthcare expenditure attributable to dizziness/vertigo in South Korea remains poorly understood. We investigated the healthcare costs due to six major disorders causing dizziness/vertigo using claims data. METHODS: The healthcare costs were evaluated using all the claims data submitted to the Health Insurance Review and Assessment Service from January 1 to December 31, 2022. The six major vestibular disorders included for analysis were benign paroxysmal positional vertigo (BPPV), psychogenic/persistent postural perceptual dizziness (PPPD), vascular vertigo/dizziness (VVD), vestibular migraine (VM), Meniere's disease (MD), and vestibular neuritis (VN). RESULTS: During the 1-year study period, 4.1% of adults aged 20 or older visited hospitals due to dizziness/vertigo in South Korea. Compared to the general population, the patients with dizziness/vertigo were more often elderly, female, and residents of small towns. The total healthcare cost for the six major vestibular disorders was â©547.8 billion (approximately $406.5 million). BPPV incurred the highest annual healthcare cost (â©183.5 billion, 33.5%), followed by VVD (â©158.8 billion, 29.0%), MD (â©82.2 billion, 15.0%), psychogenic/PPPD (â©60.3 billion, 11.0%), VN (â©32.9 billion, 6.0%), and VM (â©30.1 billion, 5.5%). The mean healthcare cost per hospital visit due to dizziness/vertigo was â©96,524 (95% confidence interval, â©96,194-â©96,855), 30% higher than the average (â©73,948) of the overall healthcare cost per hospital visit over the same period. CONCLUSION: Owing to higher healthcare costs for dizziness/vertigo and increased prevalence of dizziness/vertigo in the aged population, healthcare costs due to dizziness/vertigo will increase rapidly in South Korea. Thus, a guideline for cost-effective management of dizziness/vertigo should be established to reduce the healthcare costs due to these common symptoms.
Subject(s)
Dizziness , Health Care Costs , Vertigo , Humans , Republic of Korea , Female , Male , Middle Aged , Adult , Aged , Young Adult , Benign Paroxysmal Positional Vertigo , Meniere Disease/economics , Vestibular Neuronitis , Migraine Disorders/economics , Insurance Claim ReviewABSTRACT
BACKGROUND: Diagnostic dilemma between clinical Meniere's disease and radiological endolymphatic hydrops (EH) has emerged since the introduction of hydrops magnetic resonance imaging (MRI). The aim of this study is to explore the potential application of hydrops MRI on diagnosing the EH. METHODS: This review was developed from peer-reviewed articles published in those journals listed on journal of citation reports. The MEDLINE database of the US National Library of Medicine, Scopus, and Google Scholar were used to collect articles based on the guidelines (PRISMA 2020 statement) for reporting reviews. RESULTS: Initially, 470 articles were retrieved from 1983 to 2023, and 80 relevant articles were ultimately selected. The sensitivity (69%-92%) and specificity (78%-96%) values varied from each laboratory for detecting EH via hydrops MRI, probably due to candidate selection and the grading system employed. CONCLUSION: The application of hydrops MRI allows (1) differentiation between EH and sudden sensorineural hearing loss; (2) determination of the affected side of EH; and (3) confirmation of the diagnosis of EH concomitant with other disorders. Notably, not all differentials for EH can be visualized on MR images. One of the existing gaps to be filled is that updated hydrops MRI fails to identify distortion, that is, rupture, collapse, fistula, or fibrosis of the inner ear compartments, akin to what histopathological evidence can demonstrate. Hence, enhanced ultrahigh resolution of hydrops MRI is required for demonstrating fine structures of the inner ear compartments in the future.
Subject(s)
Endolymphatic Hydrops , Magnetic Resonance Imaging , Humans , Magnetic Resonance Imaging/methods , Endolymphatic Hydrops/diagnostic imaging , Endolymphatic Hydrops/diagnosis , Meniere Disease/diagnostic imaging , Meniere Disease/diagnosis , Diagnosis, Differential , Sensitivity and SpecificityABSTRACT
OBJECTIVES: To uncover the context that allowed for the vestibular neurectomy to grow in favor and practice at the Johns Hopkins Hospital in the early 20th century, and the reasons for its broad abandonment since. METHODS: The Walter E. Dandy (1905-1946) and Samuel J. Crowe collections (1905-1920) at the Alan Mason Chesney Medical Archives were reviewed, as well as the Samuel J. Crowe and Stacy Guild Temporal Bone Collection. RESULTS: Speculation on the etiology of Menière's disease (MD) has been countless, as have the medical and surgical interventions aimed at treating it. At the Johns Hopkins Hospital, Walter Dandy popularized the neurectomy for MD and performed 692 procedures from 1924 to 1946, believing it to be a curative therapy for vertigo. When he later modified the procedure from a total cranial nerve section to a partial vestibular neurectomy preserving auditory function, surgical candidacy expanded to include nearly any patient with vestibular symptoms. After his passing, trainees' attention shifted to traumatic injuries, likely influenced by WWII. This left the procedure scarcely used until third parties rekindled interest decades later. CONCLUSIONS: Neurectomy as the preferential treatment for MD at the Johns Hopkins Hospital was not driven by pure scientific reasoning but was rather contingent on historical context and sponsorship by a prominent figure like Walter Dandy. Appreciation of MD's natural history has since curtailed the favorability of destructive procedures in preference for conservative management.
Subject(s)
Meniere Disease , History, 20th Century , Humans , Meniere Disease/surgery , Meniere Disease/history , Vestibular Nerve/surgeryABSTRACT
BACKGROUND: Ménière's disease (MD) is a disorder of the inner ear that causes episodic bouts of severe dizziness, roaring tinnitus, and fluctuating hearing loss. To date, no targeted therapy exists. As such, we have undertaken a large whole genome sequencing study on carefully phenotyped unilateral MD patients with the goal of gene/pathway discovery and a move towards targeted intervention. This study was a retrospective review of patients with a history of Ménière's disease. Genomic DNA, acquired from saliva samples, was purified and subjected to whole genome sequencing. RESULTS: Stringent variant calling, performed on 511 samples passing quality checks, followed by gene-based filtering by recurrence and proximity in molecular interaction networks, led to 481 high priority MD genes. These high priority genes, including MPHOSPH8, MYO18A, TRIOBP, OTOGL, TNC, and MYO6, were previously implicated in hearing loss, balance, and cochlear function, and were significantly enriched in common variant studies of hearing loss. Validation in an independent MD cohort confirmed 82 recurrent genes. Pathway analysis pointed to cell-cell adhesion, extracellular matrix, and cellular energy maintenance as key mediators of MD. Furthermore, the MD-prioritized genes were highly expressed in human inner ear hair cells and dark/vestibular cells, and were differentially expressed in a mouse model of hearing loss. CONCLUSION: By enabling the development of model systems that may lead to targeted therapies and MD screening panels, the genes and variants identified in this study will inform diagnosis and treatment of MD.
Subject(s)
Endolymphatic Hydrops , Genomics , Meniere Disease , Meniere Disease/genetics , Humans , Endolymphatic Hydrops/genetics , Animals , Mice , Male , Female , Retrospective Studies , Whole Genome Sequencing , Middle Aged , AdultABSTRACT
Objectives: Previous studies have highlighted associations between certain inflammatory cytokines and Ménière's Disease (MD), such as interleukin (IL) -13 and IL-1ß. This Mendelian randomization aims to comprehensively evaluate the causal relationships between 91 inflammatory cytokines and MD. Methods: A comprehensive two-sample Mendelian randomization (MR) analysis was conducted to determine the causal association between inflammatory cytokines and MD. Utilizing publicly accessible genetic datasets, we explored causal links between 91 inflammatory cytokines and MD risk. Comprehensive sensitivity analyses were employed to assess the robustness, heterogeneity, and presence of horizontal pleiotropy in our findings. Results: Our findings indicate that MD causally influences the levels of two cytokine types: IL-10 (P=0.048, OR=0.945, 95%CI =0.894~1.000) and Neurotrophin-3 (P=0.045, OR=0954, 95%CI =0.910~0.999). Furthermore, three cytokines exhibited significant causal effects on MD: CD40L receptor (P=0.008, OR=0.865, 95%CI =0.777-0.963), Delta and Notch-like epidermal growth factor-related receptor (DNER) (P=0.010, OR=1.216, 95%CI =1.048-1.412), and STAM binding protein (P=0.044, OR=0.776, 95%CI =0.606-0.993). Conclusion: This study suggests that the CD40L receptor, DNER, and STAM binding protein could potentially serve as upstream determinants of MD. Furthermore, our results imply that when MD is regarded as the exposure variable in MR analysis, it may causally correlate with elevated levels of IL-10 and Neurotrophin-3. Using these cytokines for MD diagnosis or as potential therapeutic targets holds great clinical significance.
Subject(s)
Cytokines , Mendelian Randomization Analysis , Meniere Disease , Humans , Meniere Disease/genetics , Meniere Disease/immunology , Genetic Predisposition to Disease , Polymorphism, Single Nucleotide , Inflammation Mediators/metabolism , Interleukin-10/geneticsABSTRACT
OBJECTIVE: To investigate the safety and feasibility of precise delivery of a long-acting gel formulation containing 6% dexamethasone (SPT-2101) to the round window membrane for the treatment of Menière's disease. STUDY DESIGN: Prospective, unblinded, cohort study. SETTING: Tertiary care neurotology clinic. PATIENTS: Adults 18 to 85 years with a diagnosis of unilateral definite Menière's disease per Barany society criteria. INTERVENTIONS: A single injection of a long-acting gel formulation under direct visualization into the round window niche. MAIN OUTCOME MEASURES: Procedure success rate, adverse events, and vertigo control. Vertigo control was measured with definitive vertigo days (DVDs), defined as any day with a vertigo attack lasting 20 minutes or longer. RESULTS: Ten subjects with unilateral Menière's disease were enrolled. Precise placement of SPT-2101 at the round window was achieved in all subjects with in-office microendoscopy. Adverse events included one tympanic membrane perforation, which healed spontaneously after the study, and two instances of otitis media, which resolved with antibiotics. The average number of DVDs was 7.6 during the baseline month, decreasing to 3.3 by month 1, 3.7 by month 2, and 1.9 by month 3. Seventy percent of subjects had zero DVDs during the third month after treatment. CONCLUSIONS: SPT-2101 delivery to the round window is safe and feasible, and controlled trials are warranted to formally assess efficacy.
Subject(s)
Dexamethasone , Meniere Disease , Round Window, Ear , Humans , Meniere Disease/drug therapy , Dexamethasone/administration & dosage , Dexamethasone/therapeutic use , Middle Aged , Male , Female , Aged , Adult , Treatment Outcome , Prospective Studies , Aged, 80 and over , Delayed-Action Preparations , Cohort Studies , Vertigo/drug therapy , Anti-Inflammatory Agents/administration & dosage , Anti-Inflammatory Agents/therapeutic use , Gels , Young AdultABSTRACT
Objective:This study analyzed the pure tone audiometry results of the affected ear and the contralateral ear of unilateral Meniere's disease to investigate the correlation of the hearing threshold of the contralateral ear and the hearing prognosis of unilateral Meniere's disease. Methods:In this study, the follow-up data of 135 patients with unilateral Meniere's disease in Beijing Tongren Hospital were used to analyze the pure tone audiometry results of the affected and contralateral ears at the first visit and 1 year later. Results:â At the first visit, there was no statistically significant difference between the mean hearing thresholds of the affected ear in the normal hearing group and the high-frequency hearing loss group of the contralateral earï¼P>0.05ï¼. â¡The range of improvement of hearing thresholds in the affected ear was greater in the contralateral ear normal hearing group than in the contralateral ear high-frequency hearing loss group. In the normal hearing group of the contralateral ear, the hearing thresholds of the affected ear at 0.25 kHzï¼P<0.01ï¼, 0.50 kHzï¼P<0.01ï¼, 1.00 kHzï¼P<0.01ï¼, and 2.00 kHzï¼P<0.05ï¼ were significantly improved; and in the high-frequency hearing loss group of the contralateral ear, the hearing thresholds at 0.25 kHzï¼P<0.01ï¼ hearing thresholds improved significantly, and there was no significant difference between the rest of the frequencies before and after treatmentï¼P>0.05ï¼. A consistent pattern was observed in both higher and lower age groups. â¢After 1 year of follow-up, the low and mid-frequency hearing of the affected ear improved. 0.25 kHzï¼P<0.01ï¼, 0.50 kHzï¼P<0.01ï¼, 1.00 kHzï¼P<0.01ï¼ hearing thresholds improved significantly; 8.00 kHz hearing thresholds decreased slightlyï¼P<0.05ï¼. Conclusion:After standardized treatment, the results of 1-year follow-up suggested that the low-frequency hearing of MD patients could be improved, but the high-frequency hearing was slightly decreased. The hearing prognosis of the affected ear with normal hearing threshold of the contralateral ear may be better.
Subject(s)
Meniere Disease , Humans , Meniere Disease/diagnosis , Hearing Loss, High-Frequency , Ear , Hearing , Audiometry, Pure-Tone , PrognosisABSTRACT
Various inner ear diseases such as sensorineural deafness and Meniere's disease bring about problems such as speech communication disorders and decreased work efficiency, which seriously affect the life quality of patients. Due to the special anatomical structure and blood-labyrinth barrier in the inner ear, the current drug administration methods are often unable to achieve satisfactory results. Nanocarriers are the forefront and hot spot of nanotechnology research. In recent years, a lot of research progress has been made in the field of targeted delivery of the inner ear, which is expected to be eventually applied to the treatment of clinical diseases of the inner ear. This review focuses on the advantages, main research achievements and limitations of various nanocarriers in the targeted delivery of the inner ear, hoping to provide new ideas for related research.
Subject(s)
Ear, Inner , Hearing Loss, Sensorineural , Labyrinth Diseases , Meniere Disease , Humans , Meniere Disease/drug therapy , Quality of LifeABSTRACT
BACKGROUND: The vestibular aqueduct (VA) serves an essential role in homeostasis of the inner ear and pathogenesis of Ménière's disease (MD). The bony VA can be clearly depicted by high-resolution computed tomography (HRCT), whereas the optimal sequences and parameters for magnetic resonance imaging (MRI) are not yet established. We investigated VA characteristics and potential factors influencing MRI-VA visibility in unilateral MD patients. METHODS: One hundred patients with unilateral MD underwent MRI with three-dimensional sampling perfection with application optimized contrasts using different flip angle evolutions (3D-SPACE) sequence and HRCT evaluation. The imaging variables included MRI-VA and CT-VA visibility, CT-VA morphology and CT-peri-VA pneumatization. RESULTS: The most frequent type of MRI-VA and CT-VA visualization was invisible VA and continuous VA, respectively. The MRI-VA visibility was significantly lower than CT-VA visibility. MRI-VA visibility had a weak positive correlation with ipsilateral CT-VA visualization. For the affected side, the MRI-VA visualization was negatively correlated with the incidence of obliterated-shaped CT-VA and positively with that of tubular-shaped CT-VA. MRI-VA visualization was not affected by CT-peri-VA pneumatization. CONCLUSION: In patients with MD, the VA visualization on 3D-SPACE MRI is poorer than that observed on CT and may be affected by its osseous configuration. These findings may provide a basis for further characterization of VA demonstrated by MRI and its clinical significance.
Subject(s)
Magnetic Resonance Imaging , Meniere Disease , Tomography, X-Ray Computed , Vestibular Aqueduct , Humans , Meniere Disease/diagnostic imaging , Magnetic Resonance Imaging/methods , Vestibular Aqueduct/diagnostic imaging , Female , Male , Tomography, X-Ray Computed/methods , Middle Aged , Adult , Aged , Imaging, Three-Dimensional/methods , Young AdultABSTRACT
BACKGROUND: Posterior expansion of the utricular endolymphatic space (ES) is a finding occasionally observed, and often occurs in bilateral ears. The clinical significance of posterior expansion of the utricular ES is not clear. OBJECTIVES: To investigate the clinical significance of posterior expansion of the utricular ES detected on magnetic resonance imaging (MRI). MATERIALS AND METHODS: Among 957 patients who underwent contrast-enhanced MRI to investigate the presence of endolymphatic hydrops (EH), clinical findings in cases with posterior expansion of the utricular ES were evaluated and the significance of their existence is considered. RESULTS: Posterior expansion of the utricular ES was detected in 30 ears from 20 cases (7 males, 13 females; mean age 48.7 years). The ears with posterior expansion had a significantly lower incidence of vestibular EH than those without, and this tendency was more prominent in cases in bilateral ears. Some cases with posterior expansion had vestibular symptoms and were diagnosed with Ménière's disease, although EH was not detected in their vestibules. CONCLUSION AND SIGNIFICANCE: Posterior expansion of the utricular ES was associated with Ménière's disease without vestibular EH. Posterior expansion of the utricular ES might not be associated with the formation of EH but may occur independently.
Subject(s)
Endolymphatic Hydrops , Magnetic Resonance Imaging , Meniere Disease , Saccule and Utricle , Adult , Aged , Female , Humans , Male , Middle Aged , Young Adult , Clinical Relevance , Endolymphatic Hydrops/diagnostic imaging , Meniere Disease/diagnostic imaging , Retrospective Studies , Saccule and Utricle/diagnostic imaging , Child , Adolescent , Aged, 80 and overABSTRACT
Meniere disease is a complex inner ear disorder with significant familial aggregation. A differential prevalence of familial MD (FMD) has been reported, being 9-10% in Europeans compared to 6% in East Asians. A broad genetic heterogeneity in FMD has been described, OTOG being the most common mutated gene, with a compound heterozygous recessive inheritance. We hypothesize that an OTOG-related founder effect may explain the higher prevalence of FMD in the European population. Therefore, the present study aimed to compare the allele frequency (AF) and distribution of OTOG rare variants across different populations. For this purpose, the coding regions with high constraint (low density of rare variants) were retrieved in the OTOG coding sequence in Non-Finnish European (NFE).. Missense variants (AF < 0.01) were selected from a 100 FMD patient cohort, and their population AF was annotated using gnomAD v2.1. A linkage analysis was performed, and odds ratios were calculated to compare AF between NFE and other populations. Thirteen rare missense variants were observed in 13 FMD patients, with 2 variants (rs61978648 and rs61736002) shared by 5 individuals and another variant (rs117315845) shared by two individuals. The results confirm the observed enrichment of OTOG rare missense variants in FMD. Furthermore, eight variants were enriched in the NFE population, and six of them were in constrained regions. Structural modeling predicts five missense variants that could alter the otogelin stability. We conclude that several variants reported in FMD are in constraint regions, and they may have a founder effect and explain the burden of FMD in the European population.
Subject(s)
Gene Frequency , Meniere Disease , Mutation, Missense , White People , Adult , Female , Humans , Male , Middle Aged , Europe/epidemiology , Founder Effect , Genetic Linkage , Genetic Predisposition to Disease , Meniere Disease/genetics , Meniere Disease/epidemiology , Prevalence , White People/genetics , European PeopleABSTRACT
OBJECTIVE: To evaluate caloric response changes after endolymphatic sac decompression (ESD), together with hearing outcomes and the functional benefit of the operation. METHODS: A retrospective chart review of subjects who underwent endolymphatic sac decompression at a tertiary referral centre was performed. Data on audiological results, caloric testing, and functional level scale of the patients were analysed. RESULTS: Twenty-eight patients who met our criteria were eligible for enrolment in the study. The average follow-up after surgery was 25 months (range, 13-41). Postoperative pure-tone threshold averages and reduced vestibular response values (RVR) were not significantly altered by ESD; whereas, functional level scores improved significantly. CONCLUSION: Endolymphatic sac decompression is a surgical procedure that preserves hearing and vestibular function, and improves the daily functional level of patients with Ménière's disease. ESD can be preferred both in bilateral and unilateral disease because it does not alter vestibular function and preserves hearing.
Subject(s)
Caloric Tests , Decompression, Surgical , Endolymphatic Sac , Meniere Disease , Humans , Endolymphatic Sac/surgery , Female , Male , Middle Aged , Retrospective Studies , Adult , Decompression, Surgical/methods , Treatment Outcome , Meniere Disease/surgery , Meniere Disease/physiopathology , Aged , Follow-Up Studies , Hearing/physiology , Audiometry, Pure-ToneABSTRACT
PURPOSE: An increase in the 1000/500 Hz frequency amplitude ratio (FAR) of the cervical and ocular vestibular evoked myogenic potentials (cVEMP and oVEMP, respectively) may serve as a potential biomarker for diagnosing Meniere's disease (MD). However, the aging process can also result in an increased FAR for VEMPs. In older patients, distinguishing whether changes in VEMP FAR are due to MD or aging processes becomes difficult. We aimed to investigate the effects of age on VEMP FARs and establish a FAR-normative range for different age groups. METHOD: cVEMP and oVEMP were recorded from a total of 106 participants grouped as young, middle-aged, and older adults using air-conducted tone bursts at 500, 750, and 1000 Hz at 125 dB pSPL. The FAR was calculated for the cVEMP and oVEMP for the following frequencies: FAR1 = 1000/500, FAR2 = 1000/750, and FAR3 = 750/500. RESULTS: A significant age-related effect was observed on the cVEMP FAR. Although the oVEMP FAR showed an increasing trend with age, it was not statistically significant. Age-based normative FAR values are provided. CONCLUSIONS: Drawing from the normative FAR from this study, there is evidence that the existing MD diagnostic criteria would misidentify a considerable number of older adults. Therefore, to reduce false positives, we recommend a more stringent cVEMP and oVEMP FAR criterion in older adults.