Sang Yeon Lee

OBJECTIVES: We, herein, report two novel USH2A variants from two unrelated Korean families and their clinical phenotypes, with attention to severe or more than severe sensorineural hearing loss (SNHL). METHODS: Two postlingually deafened subjects (SB237-461, M/46 and SB354-692, F/34) with more than severe SNHL and also with suspicion of Usher syndrome type II (USH2) were enrolled. A comprehensive audiological and ophthalmological assessments were evaluated. We conducted the whole exome sequencin

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

BACKGROUND: Pulsatile tinnitus (PT) caused by venous sinus diverticulum is a relatively common, potentially incapacitating condition. Although treatment via an external approach or endovascular coiling has been reported, much remains unknown about the possible pathophysiological mechanisms and appropriate management of PT. OBJECTIVE: To review our case series of PT resulting from either sigmoid sinus diverticulum (SSD) or middle cranial fossa venous sinus diverticulum (MFD-VS) and to discuss the

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

Abstract 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 (PIP 2 ), 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

OBJECTIVE: To describe the results of a thorough evaluation in a large series of patients with an enlarged vestibular aqueduct (EVA), focusing on vestibular manifestations with etiological considerations. STUDY DESIGN: Retrospective chart review of patients with EVA. SETTING: Tertiary referral center. PATIENTS: A total of 22 EVA patients with a median age of 8 years (6 mo-35 yr) who underwent both audiovestibular and radiologic examinations. MAIN OUTCOME MEASURES: Patient demographics, radiologi

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

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

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 PDZD7 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 prelingual

OBJECTIVES: To investigate the neurocognition of aged patients with chronic tinnitus and reveal the possible association between tinnitus severity and cognitive function, with attention to mild cognitive impairment (MCI). METHODS: Fifty-eight elderly patients (≥65 years old) with chronic tinnitus (≥6 months) were prospectively enrolled in this study. All patients assessed the neurocognitive batteries including the Korean version of the patient health questionnaire-9 (K-PHQ-9), the Lawton instrum

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 variants (