A5066776325- Hearing, Cochlea, Tinnitus, Genetics
- Vestibular and auditory disorders
- Hearing Loss and Rehabilitation
- Ear Surgery and Otitis Media
- Glaucoma and retinal disorders
- Facial Nerve Paralysis Treatment and Research
- Cerebral Venous Sinus Thrombosis
- Biochemical Analysis and Sensing Techniques
- Cancer-related molecular mechanisms research
- Obstructive Sleep Apnea Research
- COVID-19 and Mental Health
- Ophthalmology and Eye Disorders
- Muscle Physiology and Disorders
- Echinoderm biology and ecology
- Fetal and Pediatric Neurological Disorders
- Air Quality and Health Impacts
- Connexins and lens biology
- Data-Driven Disease Surveillance
- Respiratory viral infections research
- Climate Change and Health Impacts
- Nasal Surgery and Airway Studies
- Air Quality Monitoring and Forecasting
- Tracheal and airway disorders
- Prenatal Screening and Diagnostics
- Alzheimer's disease research and treatments
Chung-Ang University Hospital
2016-2024
Chung-Ang University
2016-2024
Seoul National University of Education
2024
Inje University Sanggye Paik Hospital
2024
Seoyeong University
2023
Boramae Medical Center
2008-2017
Seoul National University
2008-2017
Seoul Metropolitan Government
2016-2017
Seoul National University Hospital
2014-2016
The Ark
2015
To report the nationwide prevalence of dizziness and vestibular dysfunction in Korean population determine associated factors.Cross-sectional analysis a health survey.We obtained data from 2009 to 2010 Korea National Health Nutrition Examination Surveys, which were cross-sectional surveys South civilian, non-institutionalised aged 40 years older (N=3267). A field survey team performed interviews physical examinations. Structured questionnaires handed out balance function tests using modified...
Background This study was designed to evaluate the necessity of postoperative nasal packing and find factors relevant in determining if required after endoscopic sinus surgery (ESS). Methods From January 2007 through June 2007, 64 consecutive patients who underwent ESS were evaluated. The decision whether or not perform depended on surgeon's judgment bleeding surgery. Demographic characteristics, medical history, disease extent, surgical procedures, subjective objective amount intraoperative...
Previously, we introduced a noninvasive prenatal testing (NIPT) protocol for diagnosing compound heterozygous autosomal recessive point mutations via maternal plasma DNA and simulated control genomic sampling based on fetal fraction. In our present study, have improved NIPT to make it possible diagnose homozygous without the need acquire Moreover, chi-squared test empirical statistical range proportion of mutant allele reads among total served as gatekeeping method. If this method yielded...
CDH23 mutations have mostly been associated with prelingual severe-to-profound sensorineural hearing loss (SNHL) in either syndromic or nonsyndromic SNHL (DFNB12). Herein, we demonstrate the contribution of to postlingual (NS-SNHL). We screened 32 Korean adult probands NS-SNHL sporadically autosomal recessive fashion using targeted panel whole exome sequencing. identified four (12.5%, 4/32) potential DFNB12 families that segregated variants, qualifying for our criteria along rapidly...
<h3>Objectives</h3> To clarify the relationships between sleep-wake cycle and cerebral β-amyloid (Aβ) deposition in cognitively normal (CN) older adults, focusing primarily on moderating effects of <i>APOE</i> ε4 allele. <h3>Methods</h3> The present study included 133 CN adults who participated Korean Brain Aging Study for Early Diagnosis & Prediction Alzheimer9s Disease cohort. All participants underwent [<sup>11</sup>C] Pittsburgh compound B-PET imaging to quantify Aβ brain blood...
MYO15A variants, except those in the N-terminal domain, have been shown to be associated with congenital or pre-lingual severe-to-profound hearing loss (DFNB3), which ultimately requires cochlear implantation early childhood. Recently, such variants also possibly cause moderate-to-severe loss. Herein, we demonstrate that some mutant alleles can postlingual onset of progressive partial deafness.Two multiplex Korean families (SB246 and SB224), manifesting postlingual, progressive, deafness an...
Objectives. Because climatic and air-pollution factors are known to influence the occurrence of respiratory diseases, we used these develop machine learning models for predicting diseases.Methods. We obtained daily number disease patients in Seoul. predict treated diseases per 10,000 inhabitants. applied relief-based feature selection algorithm evaluate importance selection. gradient boosting Gaussian process regression (GPR) methods, respectively, two different prediction models. also...
Mutations of MYO15A are generally known to cause severe profound hearing loss throughout all frequencies. Here, we found two novel mutations, c.3871C>T (p.L1291F) and c.5835T>G (p.Y1945X) in an affected individual carrying congenital sensorineural (SNHL) through targeted resequencing 134 deafness genes. The variant, p.L1291F p.Y1945X, resided the myosin motor IQ2 domains, respectively. variant was predicted affect structure actin-binding site from three-dimensional protein modeling, thereby...
Abstract We developed a protocol of noninvasive prenatal testing (NIPT), employing higher-resolution picodroplet digital PCR, to detect genetic imbalance in maternal plasma DNA (mpDNA) caused by cell-free fetal (cffDNA). In the present study, this approach was applied four families with autosomal recessive (AR) congenital sensorineural hearing loss. First, fraction mpDNA calculated. Then, we made artificial mixtures (positive and negative controls) simulate containing cffDNA or without...
Importance Many epidemiologic studies have suggested that low levels of plasma leptin, a major adipokine, are associated with increased risk Alzheimer disease (AD) dementia and cognitive decline. Nevertheless, the mechanistic pathway linking leptin AD-related decline is not yet fully understood. Objective To examine association in vivo AD pathologies, including amyloid-beta (Aβ) tau deposition, through both cross-sectional longitudinal approaches among cognitively unimpaired older adults....
Despite the prevalence of CDH23 mutations in East Asians, its large size hinders investigation. The pathologic mutation p.P240L is common Asians. However, whether this represents a founder or mutational hot spot unclear. with prelingual severe-to-profound sporadic autosomal recessive sensorineural hearing loss (arSNHL) unknown Koreans.From September 2010 to October 2014, children arSNHL without phenotypic markers, and their families, were tested for connexins GJB2, GJB6 GJB3. Sanger...
The immunoglobulin (Ig)-like domain containing receptor 1 (ILDR1) gene encodes angulin-2/ILDR1, a recently discovered tight junction protein, which forms tricellular (tTJ) structures with tricellulin and lipolysis-stimulated lipoprotein (LSR) at contacts (TCs) in the inner ear. Previously reported recessive mutations within ILDR1 have been shown to cause severe profound nonsyndromic sensorineural hearing loss (SNHL), DFNB42. Whole-exome sequencing of Korean multiplex family segregating...
To assess the dependence on age of expression apoptosis regulatory proteins in human semitendinosus muscle, we measured levels several apoptosis-related genes, including apoptosis-inducing factor (AIF), Bax, Bcl-2, caspase-3 and heat shock protein 70 (HSP70), using RT-PCR, immunohistochemistry TUNEL assays. We found that DNA fragmentation was proportional to tissues sample donors. The AIF were significantly elevated (by 10 25%) tissue samples from older individuals, but HSP remained almost...
Auditory neuropathy spectrum disorder (ANSD) is a sensorineural hearing caused by dysfunction of auditory neural conduction. ANSD has heterogeneous etiology, including genetic factors; the response to cochlear implantation significantly varies depending on etiology. The results timely for OTOF-related (DFNB9) have been reported be good. Therefore, identifying causative gene ANSD, especially OTOF, an important issue rehabilitate these patients. Six sporadic subjects without anatomical...
When administered perioperatively, systemic dexamethasone will reduce the hearing loss associated with cochlear implantation (CI) performed via round window approach.The benefits of electroacoustic stimulation have led to interest in pharmacological interventions preserve after CI.Thirty guinea pigs were randomly divided into three experimental groups: a control group; 3-day infusion and 7-day group. Dexamethasone was delivered mini-osmotic pump for either 3 or 7 days CI window. Pure...
TECTA is a causative gene of autosomal dominant (DFNA8/A12) and recessive (DFNB 21) nonsyndromic sensorineural hearing loss (NSHL). Mutations in account for 4% all NSHL cases some populations are thus thought to be one the major causes NSHL. A genotype-phenotype correlation mutations has been proposed. Two families (SB146 SB149), which segregated moderate an fashion, were included this study. We performed targeted resequencing 134 known deafness genes (TRS-134) bioinformatics analyses find...
Abstract Background Altered thyroid hormone levels have been associated with increased risk of Alzheimer's disease (AD) dementia and related cognitive decline. However, the neuropathological substrates underlying link between hormones AD are not yet fully understood. We first investigated association serum in vivo pathologies including both beta-amyloid (Aβ) tau deposition measured by positron emission tomography (PET). Given well-known relationship Aβ pathology AD, we additionally examined...