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Our results provide insight on the expansion of audiological spectrum encompassing more than severe SNHL in Korean subjects harboring USH2A variants, suggesting that USH2A should also be included in the candidate gene of cochlear implantation. A specific combination of USH2A variants causing truncating proteins in both alleles could demonstrate more severe audiological phenotype than that of USH2A variants carrying one truncating mutation and one missense mutation, suggesting a possible genotype

Although efficacies and proportions of tympanoplasty performed via endoscopic ear surgery (EES) have gradually introduced, it remains unclear whether total EES is a good alternative to microscopic ear surgery (MES). Herein, we aimed to compare therapeutic effects of EES and MES in patients receiving tympanoplasty or myringoplasty. A search of MEDLINE, PubMed, and Embase databases was conducted to compare the efficacies of EES and MES. Two investigators independently reviewed all studies and extr

The present study aimed to evaluate the association between migraines and dementia.Data were collected from 11,438 dementia participants who were 1:4 matched by age, sex, income, region of residence, hypertension, diabetes, and dyslipidemia with 45,752 controls from the Korean National Health Insurance Service-National Sample Cohort from 2002 to 2013. Dementia was diagnosed using the International Classification of Disease-10 (ICD-10) codes (G30 or F00). For the integrity of diagnoses, we includ

Loss-of-function variant in the gene encoding the KCNQ4 potassium channel causes autosomal dominant nonsyndromic hearing loss (DFNA2), and no effective pharmacotherapeutics have been developed to reverse channel activity impairment. Phosphatidylinositol 4,5-bisphosphate (PIP₂), an obligatory phospholipid for maintaining KCNQ channel activity, confers differential pharmacological sensitivity of channels to KCNQ openers. Through whole-exome sequencing of DFNA2 families, we identified th

Crop pests reduce productivity, so managing them through early detection and prevention is essential. Data from various modalities are being used to predict crop diseases by applying machine learning methodology. In particular, because growth environment data is relatively easy to obtain, many attempts are made to predict pests and diseases using it. In this paper, we propose a model that predicts diseases through previous growth environment information of crops, including air temperature, relat

Our results demonstrate that patients may develop vestibular symptoms during their clinical course, and all patients with an enlarged vestibular aqueduct should be cautioned regarding the potential development of vestibular pathology. Moreover, the non-negligible incidence of secondary BPPV mandates positional tests when evaluating EVA patients with vertigo.

Panoramic dental radiography is one of the most common examinations performed in dental clinics. Compared with other dental images, it covers a wide area from individual teeth to the maxilla and mandibular area. Dental clinicians can get much information about patients' health. However, it is time-consuming and laborious to detect all signs of anomalies because these regions are very complicated. So it is needed to filter out healthy images to save clinicians' time to examine. For this, we appli

LMX1A, encoding the LIM homeobox transcription factor, is essential for inner ear development. Despite previous reports of three human LMX1A variants with nonsyndromic hearing loss (NSHL) in the literature, functional characterization of these variants has never been performed. Encouraged by identification of a de novo, heterozygous, missense variant (c.595A > G; p.Arg199Gly) located in the homeodomain of LMX1A in a subject with congenital severe-to-profound deafness through Exome sequencing, we

We compared the therapeutic efficacy of facial nerve decompression (FND) and conservative treatment in patients with Bell's palsy through a systematic review and meta-analysis. Primary database search was performed in PubMed, Medline, and Embase. After screening, 13 studies were assessed for their eligibility. Among them, seven studies employing either the House-Brackmann grading system (HBGS) or May's classification (modified HBGS) were selected for quantitative and qualitative analysis. Based

A dominant sigmoid sinus with either diverticulum or dehiscence (SS-Div/SS-Deh) is a common cause of pulsatile tinnitus (PT). For PT originating from SS-Div/SS-Deh, an etiology-specific and secure reconstruction using firm materials is vital for optimal outcomes. As a follow-up to our previous reports on transmastoid SS resurfacing or reshaping for SS-Div/SS-Deh, this study aimed to evaluate the long-term results of transmastoid resurfacing/reshaping. We retrospectively reviewed 20 PT patients w

PDZD7, a PDZ domain-containing scaffold protein, is critical for the organization of Usher syndrome type 2 (USH2) interactome. Recently, biallelic PDZD7 variants have been associated with autosomal-recessive, non-syndromic hearing loss (ARNSHL). Indeed, we identified novel, likely pathogenic <i>PDZD7</i> variants based on the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines from Korean families manifesting putative moderate-to-severe pre

Abstract Recent advances in molecular genetic testing (MGT) have improved identification of genetic aetiology of candidates for cochlear implantation (CI). However, whether genetic information increases CI outcome predictability in post-lingual deafness remains unclear. Therefore, we evaluated the outcomes of CI with respect to genetic aetiology and clinical predictors by comparing the data of study subjects; those with an identified genetic aetiology (GD group), and those without identifiable v