Evidence map›Paper›PMID 41377690›Full record

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Limited Utility of Existing Hearing Loss Panels in the Assessment of Early-Onset, Bilateral Meniere's Disease.

Keshav V Shah, Christian Jung, Daniel Talian, Sherrie Davis, Douglas J Epstein, Michael J Ruckenstein, Tiffany P Hwa

Abstract read
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Article in OTO open. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

7 authors.

Keshav V ShahDepartment of Otorhinolaryngology-Head and Neck Surgery University of Pennsylvania Philadelphia Pennsylvania USA.ORCID https://orcid.org/0000-0003-3315-0665
Christian JungDepartment of Otorhinolaryngology-Head and Neck Surgery University of Pennsylvania Philadelphia Pennsylvania USA.
Daniel TalianDepartment of Otorhinolaryngology-Head and Neck Surgery University of Pennsylvania Philadelphia Pennsylvania USA.
Sherrie DavisDepartment of Otorhinolaryngology-Head and Neck Surgery University of Pennsylvania Philadelphia Pennsylvania USA.
Douglas J EpsteinDepartment of Genetics University of Pennsylvania Philadelphia Pennsylvania USA.
Michael J RuckensteinDepartment of Otorhinolaryngology-Head and Neck Surgery University of Pennsylvania Philadelphia Pennsylvania USA.
Tiffany P HwaDepartment of Otorhinolaryngology-Head and Neck Surgery University of Pennsylvania Philadelphia Pennsylvania USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objective: While the etiology of Meniere's disease (MD) is likely multifactorial, genetics are thought to play a role. Several previous studies have yielded inconclusive results, potentially due to phenotypic uncertainty and variable diagnostic criteria. To explore potential genetic bases in a more rigorous context, we assessed the clinical predictors and diagnostic yield of current hearing loss panels in a highly curated cohort of patients with bilateral and/or early-onset MD. Study Design: Retrospective cohort study. Setting: Multidisciplinary tertiary care hearing loss genetics clinic. Methods: Data from clinical notes, audiograms, and genetic reports of adult patients diagnosed with bilateral and/or early-onset (<40 years) MD from October 2019 to June 2025 were analyzed with logistic regression and summary statistics to determine predictive factors and diagnostic yields of existing genetic panels. Results: Of the 37 patients analyzed (mean age 47.7 + 14.5 years, 54% male), 24 (64.8%) had early-onset MD, 22 (59.5%) had bilateral MD, and 9 (24.3%) had both. Moderately severe to profound hearing loss prior to 65 was significantly associated with pathogenic or likely pathogenic variants (PLPV) (OR 8.98 [1.17, 101]; Conclusions: Current hearing loss panels show limited diagnostic utility for MD. Future research should prioritize whole genome sequencing to identify novel MD-associated loci and provide guidance to patients.

Indexed as

endolymphatic hydropsgeneticsgenetic testingMeniere's diseasesensorineural hearing loss

Identifiers

PMID41377690
PMCPMC12686962

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.