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Waardenburg Syndrome Type IV De Novo SOX10 Variant Causing Chronic Intestinal Pseudo-Obstruction

Hogan AR, Rao KA, Thorson WL, Neville HL, Sola JE, Perez EA

Waardenburg syndrome (WS) type IV is characterized by pigmentary abnormalities, deafness and Hirschsprung's disease. This syndrome can be triggered by dysregulation of the SOX10 gene, which belongs to the SOX...
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A Review of Music Perception with Cochlear Implantation

Han W, Kim S, Lee E, Kim J

With a high sound quality stimulated by the electrical device and a large inclusion in medical insurance, the number of cochlear implant recipients has been rapidly increased in Korea. Today,...
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Hazardous Alcohol Consumption and the Risk of Hearing Impairment in Adults Based on the Korean National Health and Nutrition Survey: A Retrospective Study

Park JA, Suh MJ

BACKGROUND AND OBJECTIVES: To investigate the relationship between hearing impairment and alcohol drinking patterns in South Korean adults. SUBJECTS AND METHODS: Data collection was performed by Korean National Health and Nutrition...
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Comparison of Aided and Unaided Thresholds and Selection Processes of Contralateral Routing of Signal Hearing Aids and Implantable Bone Conduction Devices in Patients with Asymmetric Hearing Loss

Kim YH, Lee HJ, Bae MR, Ku JY, Shin CH, Park HJ

BACKGROUND AND OBJECTIVES: We reviewed the selection processes of contralateral routing of signal (CROS) hearing aids (HAs) and bone-conduction (BC) Has, and compared aided and unaided hearing thresholds. SUBJECTS AND METHOD:...
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Two Compound Heterozygous Were Identified in SLC26A4 Gene in Two Chinese Families With Enlarged Vestibular Aqueduct

Yu Y, Yang Y, Lu J, Jin Y, Yang Y, Hong E, Shi J, Chen F, Han S, Chu P, Guo Y, Ni X

OBJECTIVES: To investigate the genetic causes of hearing loss with enlarged vestibular aqueduct (EVA) in two children from unrelated two Chinese families. METHODS: Sanger sequencing of all coding exons in SLC26A4...
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Speech Perception and Gap Detection Performance of Single-Sided Deafness under Noisy Conditions

Kwak C, Kim S, Lee J, Seo Y, Kong T, Han W

BACKGROUND AND OBJECTIVES: Many studies have reported no benefit of sound localization, but improved speech understanding in noise after treating patients with single-sided deafness (SSD). Furthermore, their performances provided a...
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Frequently Delayed Diagnosis and Misdiagnosis in MYH9-related Disorders: Data from Genetically Confirmed Cases of Korean Patients

Park CH, Kim YE, Lee KO, Kim SH, Oh KH, Kim I, Oh D, Kim HJ

MYH9-related disorders (MYH9RD) are autosomal-dominant disorders characterized by macrothrombocytopenia with or without leukocyte inclusion bodies or extra-hematological features, such as sensorineural deafness and renal impairment. MYH9RD can be misdiagnosed as...
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The Presence of Neural Stem Cells and Changes in Stem Cell-Like Activity With Age in Mouse Spiral Ganglion Cells In Vivo and In Vitro

Moon BS, Ammothumkandy A, Zhang N, Peng L, Ibrayeva A, Bay M, Pratap A, Park HJ, Bonaguidi , Lu W

OBJECTIVES: Spiral ganglion neurons (SGNs) include potential endogenous progenitor populations for the regeneration of the peripheral auditory system. However, whether these populations are present in adult mice is largely unknown....
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Report on the External Quality Assessment Scheme for Molecular Diagnostics in Korea (2017)

Kim MJ, Yoon MH, Song JY, Cho SI, Park SS, Seong MW

Quality control for genetic analysis has become more important with a drastic increase in testing volume and clinical demands. The molecular diagnostics division of the Korean Association of Quality Assurance...
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The distribution of calbindin-D28k, parvalbumin, and calretinin immunoreactivity in the inferior colliculus of circling mouse

Lee JK, Kim MJ

The circling mice with tmie gene mutation are known as an animal deafness model, which showed hyperactive circling movement. Recently, the reinvestigation of circling mouse was performed to check the...
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Retroperitoneal Schwannoma Mimicking an Adrenal Mass

Lee YK, Yoo JS, Han JW, Jin SJ, Park JS, Koo JS, Yoon DS

A schwannoma is a benign neoplasm originating from the Schwann cells of the neural sheath. The most common type of benign schwannomas is the acoustic neuroma presenting with deafness. We...
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Long Term Speech Perception Outcomes of Cochlear Implantation in Gap Junction Protein Beta 2 Related Hearing Loss

Kim SH, Nepali R, Yoo MH, Lee KS, Chung JW

BACKGROUND AND OBJECTIVES: The mutation of the gap junction protein beta 2 (GJB2) gene is the predominant cause of autosomal recessive non-syndromic hearing loss. The purpose of this study was...
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Over-expression of myosin7A in cochlear hair cells of circling mice

Kim YY, Nam H, Jung H, Kim B, Suh JG

Circling mouse (C57BL/6J-cir/cir) deleted the transmembrane inner ear (Tmie) gene is an animal model for human non-syndromic recessive deafness, DFNB6. In circling mouse, hair cells in the cochlea have degenerated...
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Inhibition of K⁺ outward currents by linopirdine in the cochlear outer hair cells of circling mice within the first postnatal week

Kang SW, Ahn JW, Ahn SC

Inhibition of K⁺ outward currents by linopirdine in the outer hair cells (OHCs) of circling mice (homozygous (cir/cir) mice), an animal model for human deafness (DFNB6 type), was investigated using...
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A novel mutation in the DNMT1 gene in a patient presenting with pure cerebellar ataxia

Algahtani , Shirah B

Mutations in the DNA methyltransferase 1 gene (DNMT1) were reported to cause two phenotypes: OMIM 604121 and OMIM 614116. The first phenotype includes autosomal dominant cerebellar ataxia, deafness, and narcolepsy,...
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Prediction of Cochlear Implant Outcomes in Patients With Prelingual Deafness

Kang DH, Lee MJ, Lee KY, Lee SH, Jang JH

OBJECTIVES: To evaluate the factors that limit post-cochlear implantation (CI) speech perception in prelingually deaf children. METHODS: Patients with CI were divided into two groups according to Category of Auditory Performance...
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Bioglue-Coated Teflon Sling Technique in Microvascular Decompression for Hemifacial Spasm Involving the Vertebral Artery

Lee SH, Park JS, Ahn YH

OBJECTIVE: Microvascular decompression (MVD) for hemifacial spasm (HFS) involving the vertebral artery (VA) can be technically challenging. We investigated the therapeutic effects of a bioglue-coated Teflon sling technique on the...
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Hearing Restoration in Neurofibromatosis Type II Patients

Lee JM, Chang JW, Choi JY, Chang WS, Moon IS

Patients with neurofibromatosis type II will eventually succumb to bilateral deafness. For patients with hearing loss, modern medical science technology can provide efficient hearing restoration through a number of various...
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Refractory Granulomatosis with Polyangiitis Presenting as Facial Paralysis and Bilateral Sudden Deafness

Kim SH, Jung AR, Kim SI, Yeo SG

Granulomatosis with polyangiitisis [(GPA) or Wegener granulomatosis] is a multi-system disease characterized by granuloma formation and necrotizing vasculitis. GPA classically shows involvement of the respiratory tracts and the renal system....
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A Case of Cytomegalovirus Infection in a Neonate with Osteopetrosis

Lee SH, Shin JH, Choi BM, Kim YK

Infantile osteopetrosis is a rare congenital disorder caused by abnormal bone resorption. Patients with osteopetrosis can have severe anemia, thrombocytopenia, hepatosplenomegaly, rickets, visual impairment, and deafness. Cytomegalovirus also can cause...
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