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Otolaryngology--head and Neck Surgery :... Nov 2023To analyze evidence supporting an association between immune-related diseases and Ménière's disease (MD) since it has long been thought to be related to autoimmune... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
To analyze evidence supporting an association between immune-related diseases and Ménière's disease (MD) since it has long been thought to be related to autoimmune disorders and allergies.
DATA SOURCES
We retrieved records from Pubmed, Web of Science, Scopus, and Cochrane Library to identify studies published between January 2002 and October 2022.
REVIEW METHODS
Articles were independently assessed by 2 reviewers and verified by a third reviewer. Published cross-sectional studies, cohort/longitudinal studies, case series, and noncomparative cohort studies were considered eligible for inclusion. We conducted a systematic review and meta-analysis according to a registered protocol on the International Prospective Register of Systematic Reviews and Preferred Reporting Items for Systematic Reviews and Meta-analyses guidelines. Selected studies were classified into 2 groups: epidemiological and genetic association studies. Relative frequencies and odds ratios (ORs) for each autoinflammatory/autoimmune disease or genetic marker reported to be associated with MD.
RESULTS
Fifteen studies from 6 countries met our inclusion criteria. Nine are epidemiological studies and 6 are genetic association studies. The epidemiological studies were used to perform 3 different meta-analyses. Airway allergic disease and autoimmune thyroid disease showed a significant association with MD (OR = 2.27 [2.08-2.48] and OR = 1.35 [1.25-1.46]); while rheumatoid arthritis did not (OR = 0.63 [0.28-1.41]). Other comorbidities also showed a significant association with MD like chronic obstructive pulmonary disease, vitiligo, fibromyalgia, arthritis, and psoriasis.
CONCLUSION
Epidemiological evidence supports an association between MD and immune-related disorders in European and Asian populations, with population-specific effects. The evaluation of thyroid diseases, airway allergic diseases, and other inflammatory diseases should be implemented in the clinical management of MD patients.
Topics: Humans; Meniere Disease; Cross-Sectional Studies; Autoimmune Diseases; Cohort Studies; Comorbidity; Hypersensitivity
PubMed: 37272729
DOI: 10.1002/ohn.386 -
European Radiology Oct 2023Delayed post-gadolinium magnetic resonance imaging (MRI) detects changes of endolymphatic hydrops (EH) within the inner ear in Meniere's disease (MD). A systematic... (Meta-Analysis)
Meta-Analysis
OBJECTIVES
Delayed post-gadolinium magnetic resonance imaging (MRI) detects changes of endolymphatic hydrops (EH) within the inner ear in Meniere's disease (MD). A systematic review with meta-analysis was conducted to summarise the diagnostic performance of MRI descriptors across the range of MD clinical classifications.
MATERIALS AND METHODS
Case-controlled studies documenting the diagnostic performance of MRI descriptors in distinguishing MD ears from asymptomatic ears or ears with other audio-vestibular conditions were identified (MEDLINE, EMBASE, Web of Science, Scopus databases: updated 17/2/2022). Methodological quality was evaluated with Quality Assessment of Diagnostic Accuracy Studies version 2. Results were pooled using a bivariate random-effects model for evaluation of sensitivity, specificity and diagnostic odds ratio (DOR). Meta-regression evaluated sources of heterogeneity, and subgroup analysis for individual clinical classifications was performed.
RESULTS
The meta-analysis included 66 unique studies and 3073 ears with MD (mean age 40.2-67.2 years), evaluating 11 MRI descriptors. The combination of increased perilymphatic enhancement (PLE) and EH (3 studies, 122 MD ears) achieved the highest sensitivity (87% (95% CI: 79.92%)) whilst maintaining high specificity (91% (95% CI: 85.95%)). The diagnostic performance of "high grade cochlear EH" and "any EH" descriptors did not significantly differ between monosymptomatic cochlear MD and the latest reference standard for definite MD (p = 0.3; p = 0.09). Potential sources of bias were case-controlled design, unblinded observers and variable reference standard, whilst differing MRI techniques introduced heterogeneity.
CONCLUSIONS
The combination of increased PLE and EH optimised sensitivity and specificity for MD, whilst some MRI descriptors also performed well in diagnosing monosymptomatic cochlear MD.
KEY POINTS
• A meta-analysis of delayed post-gadolinium magnetic resonance imaging (MRI) for the diagnosis of Meniere's disease is reported for the first time and comprised 66 studies (3073 ears). • Increased enhancement of the perilymphatic space of the inner ear is shown to be a key MRI feature for the diagnosis of Meniere's disease. • MRI diagnosis of Meniere's disease can be usefully applied across a range of clinical classifications including patients with cochlear symptoms alone.
Topics: Humans; Adult; Middle Aged; Aged; Meniere Disease; Gadolinium; Endolymphatic Hydrops; Ear, Inner; Magnetic Resonance Imaging
PubMed: 37171493
DOI: 10.1007/s00330-023-09651-8 -
Journal of Biomedical Informatics Jul 2023The diagnosis of rare genetic diseases is often challenging due to the complexity of the genetic underpinnings of these conditions and the limited availability of... (Review)
Review
BACKGROUND
The diagnosis of rare genetic diseases is often challenging due to the complexity of the genetic underpinnings of these conditions and the limited availability of diagnostic tools. Machine learning (ML) algorithms have the potential to improve the accuracy and speed of diagnosis by analyzing large amounts of genomic data and identifying complex multiallelic patterns that may be associated with specific diseases. In this systematic review, we aimed to identify the methodological trends and the ML application areas in rare genetic diseases.
METHODS
We performed a systematic review of the literature following the PRISMA guidelines to search studies that used ML approaches to enhance the diagnosis of rare genetic diseases. Studies that used DNA-based sequencing data and a variety of ML algorithms were included, summarized, and analyzed using bibliometric methods, visualization tools, and a feature co-occurrence analysis.
FINDINGS
Our search identified 22 studies that met the inclusion criteria. We found that exome sequencing was the most frequently used sequencing technology (59%), and rare neoplastic diseases were the most prevalent disease scenario (59%). In rare neoplasms, the most frequent applications of ML models were the differential diagnosis or stratification of patients (38.5%) and the identification of somatic mutations (30.8%). In other rare diseases, the most frequent goals were the prioritization of rare variants or genes (55.5%) and the identification of biallelic or digenic inheritance (33.3%). The most employed method was the random forest algorithm (54.5%). In addition, the features of the datasets needed for training these algorithms were distinctive depending on the goal pursued, including the mutational load in each gene for the differential diagnosis of patients, or the combination of genotype features and sequence-derived features (such as GC-content) for the identification of somatic mutations.
CONCLUSIONS
ML algorithms based on sequencing data are mainly used for the diagnosis of rare neoplastic diseases, with random forest being the most common approach. We identified key features in the datasets used for training these ML models according to the objective pursued. These features can support the development of future ML models in the diagnosis of rare genetic diseases.
Topics: Humans; Rare Diseases; Machine Learning; Algorithms; Genomics; Prognosis
PubMed: 37352901
DOI: 10.1016/j.jbi.2023.104429 -
European Archives of... Sep 2023Meniere's disease (MD) is a complex disease that can severely affect the quality of life. In this systematic review and meta-analysis, we aimed to investigate the effect... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Meniere's disease (MD) is a complex disease that can severely affect the quality of life. In this systematic review and meta-analysis, we aimed to investigate the effect of vestibular rehabilitation (VR) versus control/other interventions on the quality of life in patients with MD.
METHODS
We searched six electronic databases (PubMed/MEDLINE, Web of Science, EMBASE, Scopus, ProQuest, CENTRAL) from inception to September 30, 2022 with no language restriction for publications comparing the effect of VR with control/ other interventions in patients with MD. The primary outcome was quality of life assessed by dizziness handicap inventory (DHI).
RESULTS
Overall, three studies with a total of 465 patients were included in the meta-analysis. All the included studies reported immediate-term DHI scores. A medium effect (standardized mean difference [SMD] = - 0.58, 95% confidence interval [CI] - 1.12; - 0.05) was observed favoring the use of VR to improve DHI scores in patients with MD in the immediate term. Moreover, there was severe heterogeneity in immediate DHI scores among the included studies (χ = 22.33, P = 0.00, I = 82.1%).
CONCLUSIONS
VR rehabilitation can improve the quality of life in patients with MD immediately after treatment. Since all the included studies had a high risk of bias and none had long-term follow-ups, further high-quality research is required to determine the short-, intermediate-, and long-term effects of VR compared to control/other interventions.
Topics: Humans; Meniere Disease; Quality of Life; Dizziness; Vertigo
PubMed: 37341761
DOI: 10.1007/s00405-023-08066-x -
Journal of the Association For Research... Feb 2024To assess the available evidence to support a genetic contribution and define the role of common and rare variants in tinnitus.
PURPOSE
To assess the available evidence to support a genetic contribution and define the role of common and rare variants in tinnitus.
METHODS
After a systematic search and quality assessment, 31 records including 383,063 patients were selected (14 epidemiological studies and 17 genetic association studies). General information on the sample size, age, sex, tinnitus prevalence, severe tinnitus distribution, and sensorineural hearing loss was retrieved. Studies that did not include data on hearing assessment were excluded. Relative frequencies were used for qualitative variables to compare different studies and to obtain average values. Genetic variants and genes were listed and clustered according to their potential role in tinnitus development.
RESULTS
The average prevalence of tinnitus estimated from population-based studies was 26.3% for any tinnitus, and 20% of patients with tinnitus reported it as an annoying symptom. One study has reported population-specific differences in the prevalence of tinnitus, the white ancestry being the population with a higher prevalence. Genome-wide association studies have identified and replicated two common variants in the Chinese population (rs2846071; rs4149577) in the intron of TNFRSF1A, associated with noise-induced tinnitus. Moreover, gene burden analyses in sequencing data from Spanish and Swede patients with severe tinnitus have identified and replicated ANK2, AKAP9, and TSC2 genes.
CONCLUSIONS
The genetic contribution to tinnitus is starting to be revealed and it shows population-specific effects in European and Asian populations. The common allelic variants associated with tinnitus that showed replication are associated with noise-induced tinnitus. Although severe tinnitus has been associated with rare variants with large effect, their role on hearing or hyperacusis has not been established.
Topics: Humans; Tinnitus; Genome-Wide Association Study; Hearing; Hearing Loss, Sensorineural; Hyperacusis
PubMed: 38334885
DOI: 10.1007/s10162-024-00925-6 -
Brazilian Journal of Otorhinolaryngology 2023To analyze, by means of a systematic review and meta-analysis, the proportion of patients with Meniere's disease who have altered caloric test and vHIT, as well as to... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
To analyze, by means of a systematic review and meta-analysis, the proportion of patients with Meniere's disease who have altered caloric test and vHIT, as well as to determine the prevalence of altered caloric test and normal vHIT dissociation in the diagnosis of Meniere's disease.
METHODS
The literature search had no restriction regarding the period of publication on the following indexed data platforms: PubMed, PubMed PMC, BVS-Bireme, Web of Science, Embase and Cochrane Library. Articles that evaluated patients with Meniere's disease who underwent caloric test and vHIT were included. Two researchers independently conducted the analysis of the articles, promoting the selection and capture of data, following the recommendations of the PRISMA method, and complying with the criteria for articles inclusion and exclusion defined in the research protocol. In case of disagreement during the selection process, a third researcher was included for analysis.
RESULTS
From a total of 427 initial studies, the researchers selected 12 articles, published between 2014 and 2021, with a total of 708 patients evaluated, with a mean age of 52.72 years old. The prevalence of patients with Meniere's disease with altered caloric reflex test was 64% (95% CI 57%‒71%), while the prevalence of altered vHIT was only 28% (95% CI 16%-40%). The prevalence of the altered caloric test + normal vHIT dissociation was 47% (95% CI 37%-57%).
CONCLUSION
The video head impulse test and the caloric test are valuable tools for vestibular assessment. The dissociation of findings between these two tests in patients with Meniere's disease was more prevalent in this meta-analysis and may be a result of the tonotopy of specialized hair cells in the ampullary crest. The prevalence of altered caloric test was 64% and anormal vHIT was 28%. The dissociation caloric asymmetry and normal vHIT was observed in 47% of the patients.
Topics: Humans; Middle Aged; Meniere Disease; Head Impulse Test; Caloric Tests; Reflex, Vestibulo-Ocular; Hair Cells, Auditory
PubMed: 37354884
DOI: 10.1016/j.bjorl.2023.101279 -
Ear and HearingA recently devised parameter of vestibular-evoked myogenic potential (VEMP) based on the principles of frequency tuning is the inter-frequency amplitude ratio (IFAR). It... (Meta-Analysis)
Meta-Analysis
OBJECTIVES
A recently devised parameter of vestibular-evoked myogenic potential (VEMP) based on the principles of frequency tuning is the inter-frequency amplitude ratio (IFAR). It refers to the ratio of the amplitude of 1000 Hz tone burst evoked VEMP to 500 Hz evoked tone burst. A pathology like Meniere's disease changes the frequency response and alters the frequency tuning of the otolith organs. Because IFAR is based on the principle of frequency tuning of VEMP, it is likely to help identify Meniere's disease. Few studies in the last decade have investigated the utility of IFAR in identifying Meniere's disease. However, a systematic review and a meta-analysis on IFAR in Meniere's disease are lacking. The present study investigates whether the IFAR of VEMP helps identify Meniere's disease and differentiates it from healthy ears and other vestibular pathologies.
DESIGN
The present study is a systematic review and a meta-analysis. The studies investigating the IFAR of cervical and ocular VEMPs in Meniere's disease, healthy controls, and other vestibular pathologies were searched across research databases such as PubMed, Science Direct, and Scopus. The search strategy was developed using the PICO (population, intervention, comparison, and outcomes) format, and Medical Subject Headings (MeSH) terms and Boolean operators were employed. The systematic review was performed using the Rayyan software, whereas the Review Manager software was used to carry out the meta-analysis. A total of 16,605 articles were retrieved from the databases. After the duplicate removal, 2472 articles remained. These were eliminated using title screening, abstract screening, and full-length inspections. A total of nine articles were found eligible for quality assessment and meta-analysis, and the New Castle-Ottawa Scale was used for quality assessment. After the data extraction, 24 six articles were found to have the desired data format for the meta-analysis.
RESULTS
The results showed significantly higher IFAR in the affected ears of individuals in the Meniere's disease group than in the control group's unaffected ears. There was no significant difference between the unaffected ears of individuals in the Meniere's disease group and the ears of the control group. The only study on Meniere's disease and benign paroxysmal positional vertigo found significantly larger ocular VEMP IFAR in ears with Meniere's disease than in benign paroxysmal positional vertigo.
CONCLUSIONS
This systematic review and meta-analysis found IFAR efficient in differentiating Meniere's disease from healthy controls. We also found an enhanced IFAR as a potential marker for Meniere's disease. However, more investigations are needed to confirm the utility of an enhanced IFAR value in the exclusive identification of Meniere's disease.
Topics: Humans; Meniere Disease; Benign Paroxysmal Positional Vertigo; Vestibular Evoked Myogenic Potentials; Vestibule, Labyrinth; Saccule and Utricle
PubMed: 36859775
DOI: 10.1097/AUD.0000000000001343 -
Journal of Otolaryngology - Head & Neck... 2024Diagnostic dilemma between clinical Meniere's disease and radiological endolymphatic hydrops (EH) has emerged since the introduction of hydrops magnetic resonance... (Review)
Review
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.
Topics: Humans; Magnetic Resonance Imaging; Endolymphatic Hydrops; Meniere Disease; Diagnosis, Differential; Sensitivity and Specificity
PubMed: 38888936
DOI: 10.1177/19160216241250350 -
Ear, Nose, & Throat Journal Jun 2024Evaluation of the effectiveness and posttreatment effects of intratympanic gentamicin and corticosteroids in treating patients with Ménière's disease (MD). Based on...
Evaluation of the effectiveness and posttreatment effects of intratympanic gentamicin and corticosteroids in treating patients with Ménière's disease (MD). Based on PubMed and Embase databases, randomized controlled trials using intratympanic injections of 4 drugs (gentamicin, methylprednisolone, dexamethasone, and placebo) for the treatment of MD were searched from 1995 to October 2023, and the literature was screened according to inclusion and exclusion criteria, and data were netted for meta-analysis using Stata 17. A total of 13 studies were selected, involving 559 participants, with follow-up time ranging from 3 to 28 months. Meta-analysis showed that there was no statistically significant difference in pure-tone average between gentamicin and dexamethasone [standardized mean difference (SMD) = 0.09, 95% confidence interval (CI) (-0.42, 0.24), < .05]. Compared to placebo, intratympanic injection of gentamicin [risk ratio (RR) = 1.18, 95% CI (0.43, 1.93)], methylprednisolone [RR = 0.88, 95% CI (0.07, 1.70)], and dexamethasone [RR = 0.70, 95% CI (-0.01, 1.41)] all showed better efficacy in treating vertigo. For the treatment of tinnitus, the SUCRA ranking results showed that dexamethasone was the most effective, followed by methylprednisolone and gentamicin. Pharmacological intervention is more effective than placebo in treating MD. Although gentamicin treatment shows significant effects in treating vertigo, corticosteroid combination therapy is markedly superior to gentamicin in controlling hearing loss and vertigo symptoms.
PubMed: 38907653
DOI: 10.1177/01455613241264421 -
Frontiers in Neurology 2024Inner ear disorders have a variety of causes, and many factors can contribute to the exacerbation of cochlear and vestibular pathology. This systematic review aimed to... (Review)
Review
Inner ear disorders have a variety of causes, and many factors can contribute to the exacerbation of cochlear and vestibular pathology. This systematic review aimed to analyze clinical data on the coexistence and potential causal interaction between allergic diseases and inner ear conditions. A search of PubMed and Web of Science identified 724 articles, of which 21 were selected for full-text analysis based on inclusion and exclusion criteria. The epidemiologic evidence found overwhelmingly supports an association between allergic disease and particular inner ear disorders represented by a high prevalence of allergic reactions in some patients with Ménière's disease (MD), idiopathic sudden sensorineural hearing loss (ISSHL), and acute low-tone hearing loss (ALHL). In addition, patients with MD, ISSHL, and ALHL had higher levels of total serum IgE than healthy subjects. Finally, in some cases, changes in cochlear potential may have been induced by antigen exposure, while desensitization alleviated allergy and inner ear-related symptoms. The exact mechanism of interaction between the auditory/vestibular and immune systems is not fully understood, and further clinical and basic research is needed to understand the relationship between the two systems fully.
PubMed: 38595846
DOI: 10.3389/fneur.2024.1378276