• Proceedings of the KOR-BRONCHOESO Conference
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• 1981.05a
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• pp.41.1-41
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• 1981

The combination of congenital stapes fixation and proximal symphalangism has been described in several kindreds. It exhibits autosomal dominant inheritance. A patient, 11-year-old female, visited department of otolaryngology of SNUH in December, 1980. Her complaint was bilateral hearing loss since birth. Physical examination revealed fusion of proximal interphalangeal joints of both 4th and 5th fingers. Tympanic membrane was normal. Temporal bone X-ray was normal. Pure tone audiogram revealed about 60 dB conductive loss with horizontal curve. On exploratory tympanotomy of right side, bony fixation of stapedial footplate was found. So, stapedectomy with connective tissue wire prosthesis was performed. As a result, marked improvement of hearing was obtained with 5 dB A-B gap on operated side.

• The Journal of Korean Medicine Ophthalmology and Otolaryngology and Dermatology
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• v.5 no.1
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• pp.133-142
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• 1992

We analyzed clinical study in 47 patients, who had visited to the Dept. of Otolaryngology, Hospital of Oriental Medicine, Kyung Hee University to treat Otitis media with effesion from March, 1991 to February, 1992. The clinical etiology of O.M.E. was tubal occlusion, acute otitis, and allergy. The clinical symptoms were hearing loss, tinnitus, sneezing, coughing, Chun-I(纏耳), and BEE-Yeon(鼻淵) in the Oriental Medicine. The results were as follows. 1. There were 26 males ($55\%$) and 21 females ($45\%$) in sex. 2. The peak age at onset was 1-4 years old (11Cases). 3. Bilateral effusion was in $62\%$, and unilateral in $38\%$. 4. The etioloigic factors were upper respiratory infection 16 cases, Allergic rhinitis 13 cases, Sinusitis 8 cases, etc. 5. The most common chief complaint was hearing loss ($30\%$). 6. There was no significant difference between blood types in O.M.E., ( A type $30\%,\;B\;type\;25\%,\;AB\;type\;13\%,\;0\;type\;13\%$, Unknown recorded $9\%$ ). 7. $21\%$ patients prefered warm and the others cold 8. As for digestion, good was in 31 cases ($81\%$), and poor 9 cases ($19\%$). 9. Man-Hyung-Ja-San Extract was most used in treatments as $38\%$, O-Ryung-San $35\%$ in descending order. 10. As for treatment period, 14 cases were treated over 12 weeks, 9 cases below 1 week

• Neonatal Medicine
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• v.16 no.2
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• pp.213-220
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• 2009

Purpose: Hearing loss is one of the common birth defects in humans, with a reported prevalence of 1-3 per 1000 newborns. We investigated the incidence of hearing loss and evaluated the use of neonatal hearing screening test in neonatal intensive care unit (NICU) graduates who are at greater risk for hearing loss than normal newborns. Methods: The neonates admitted to the NICU of Asan Medical Center from 1 March, 2003 to 30 March, 2008 who were available for follow-up were included. Those who failed the first auditory brainstem response prior to discharge were retested with the stapedial reflex test, auditory brainstem response and tympanometry in the Otolaryngology department. Results: Of 2,137 neonates, 2,000 (93.5%) neonates were tested prior to discharge. Sixty-seven neonates (3.4%) failed the first newborn hearing screening test. Of 67 infants, 52 infants were retested for a second hearing test. Excluding 10 infants (19.2%) who were lost during follow-up, 16 infants were confirmed to have hearing impairment of which 12 and 4 infants had unilateral and bilateral hearing loss, respectively. Of 16 infants, 5 did not meet the criteria set by the Korean National Health Insurance Corporation. Conclusion: The prevalence of hearing impairment in NICU graduates is about 0.8%, excluding those who were lost for follow up, necessitating a systemic and effective hearing assessment program among these high risk infants and more generous national insurance coverage.

• Journal of Korean Medical Science
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• v.33 no.48
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• pp.309.1-309.13
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• 2018

Background: The aim of this study was to observe long-term outcomes of very low birth weight infants (VLBWIs) born between 2013 and 2014 in Korea, especially focusing on neurodevelopmental outcomes. Methods: The data were collected from Korean Neonatal Network (KNN) registry from 43 and 54 participating units in 2013 and 2014, respectively. A standardized electronic case report form containing 30 items related to long-term follow up was used after data validation. Results: Of 2,660 VLBWI, the mean gestational age and birth weight were $29^{1/7}{\pm}2^{6/7}$ weeks and $1,093{\pm}268g$ in 2013 and $29^{2/7}{\pm}2^{6/7}$ weeks and $1,125{\pm}261g$ in 2014, respectively. The post-discharge mortality rate was 1.2%-1.5%. Weight < 50th percentile was 46.5% in 2013 and 66.1% in 2014. The overall prevalence of cerebral palsy among the follow up infants was 6.2% in 2013 and 6.6% in 2014. The Bayley Scales of Infant Developmental Outcomes version II showed 14%-25% of infants had developmental delay and 3%-8% of infants in Bayley version III. For the Korean developmental screening test for infants and children, the area "Further evaluation needed" was 5%-12%. Blindness in both eyes was reported to be 0.2%-0.3%. For hearing impairment, 0.8%-1.9% showed bilateral hearing loss. Almost 50% were readmitted to hospital with respiratory illness as a leading cause. Conclusion: The overall prevalence of long-term outcomes was not largely different among the VLBWI born between 2013 and 2014. This study is the first large national data study of long-term outcomes.

• Journal of the Korean Society of Laryngology, Phoniatrics and Logopedics
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• v.22 no.2
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• pp.137-142
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• 2011

Background and Objectives : The aim of this study is to introduce Korea version of pediatric VHI and to compare pVHI-K scores between children with dysphonia and children without voice problems before pVHI-K is developed as a preliminary study. Additionally, the relationship between pVHI and acoustic measures were investigated. Materials and Methods : pVHI-K scores in normal group were obtained from 15 parents who have children with no present or past history of a voice disorder, hearing loss, or related disability that can affect the their voice or speech. Dysphonia group consisted of 15 parents who have children with bilateral vocal fold nodule's at Department of Otolaryngology, the Seoul National University Hospital (SNUH). pVHI-K and acoustic parameters were measured in two group. Results : The mean pVHI scores (total, functional, physical, emotional) in normal group were 2.33 (T), 0.80 (F) 1.33 (P) and 0.27 (E), respectively whereas those of pVHI in children group with dysphonia were 23.13 (T), 11.07 (F), 5.73 (P) and 6.13 (E), respectively and significant differences were revealed in total pVHI score as well as in all of the sub-pVHI scores. Moreover, significant correlation between pVHI-K parameters (T, F, P) and acoustic measures [Shimmer(%)] were shown in children in dysphonia group. Conclusion : Reported by parents can be useful as a supplementary clinical tool for diagnosing and measuring treatment effectiveness in young children with dysphonia.

• Clinical and Experimental Pediatrics
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• v.63 no.8
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• pp.284-290
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• 2020

Korea currently has the world's lowest birth rate but a rapidly inreasing number of preterm infants. The Korean Neonatal Network (KNN), launched by the Korean Society of Neonatology under the support of Korea Centers for Disease Control, has collected population-based data for very low birth weight infants (VLBWIs) born in Korea since 2013. In terms of the short-term outcomes of VLBWIs born from 2013 to 2016 registered in the KNN, the survival rate of all VLBWIs was 86%. Respiratory distress syndrome and bronchopulmonary dysplasia were observed in 78% and 30% of all VLBWIs, respectively. Necrotizing enterocolitis occurred in 7%, while 8% of the VLBWIs needed therapy for retinopathy of prematurity in the neonatal intensive care unit (NICU). Sepsis occurred in 21% during their NICU stay. Intraventricular hemorrhage (grade ≥III) was diagnosed in 10%. In terms of the long-term outcomes for VLBWIs born from 2013 to 2014 registered in the KNN, the post-discharge mortality rate was approximately 1.2%-1.5%, mainly owing to their underlying illness. Nearly half of the VLBWIs were readmitted to the hospital at least once in their first 1-2 years of life, mostly as a result of respiratory diseases. The overall prevalence of cerebral palsy was 6.2%-6.6% in Korea. Bilateral blindness was reported in 0.2%-0.3% of VLBWIs, while bilateral hearing loss was found in 0.8%-1.9%. Since its establishment, the KNN has published annual reports and papers that facilitate the improvement of VLBWI outcome and the formulation of essential healthcare policies in Korea.

• Journal of Genetic Medicine
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• v.8 no.1
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• pp.58-61
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• 2011

Cases of interstitial deletions of the long arm of chromosome 17 are very rare, with only nine cases ever reported worldwide. We describe a 12-year-old boy with profound developmental delay, microcephaly, facial dysmorphism, contracture of the large joints and bilateral hearing loss. A chromosomal study using a peripheral blood sampled revealed 46,XY,del(17)(q22q23). To our knowledge, he is the first case of interstitial deletion of the long arm of chromosome 17 ever reported in Korea.

• Clinical and Experimental Pediatrics
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• v.49 no.5
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• pp.507-512
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• 2006

Purpose : Early detection and intervention of hearing impairment is believed to improve speech and language development and behavior of children. The aim of this preliminary study was to determine the prevalence of hearing impairments, and to identify the association of risk factors relating to refer response in high risk neonates who were screened using distortion product otoacoustic emissions (DPOAE). Methods : The subjects included 871 neonates who were admitted to the neonatal intensive care unit of the Pediatric Department in Soonchunhyang University Bucheon Hospital from May, 2001 to December, 2004. They were screened using DPOAE. Based on DPOAE, we divided the neonates in two groups : 'Pass' and 'Refer'. The differences in risk factors between the pass group and the refer group were analyzed. Results : The incidence of the refer group was 12.1 percent(106 out of 871). The bilateral refer rate was 5.4 percent(47 out of 871). And the unilateral refer rate was 6.7 percent(59 out of 871). Gender, birth place, family history of hearing loss, small/large for gestational age, obstetrical factor, hyperbilirubinemia and use of gentamicin were not statistically related to the refer rate. Statistically related to refer rate were birth weight, resuscitated neonates, Apgar score, craniofacial anomaly, mechanical ventilator application, sepsis, using of vancomycin(P<0.05). The prevalence of hearing impairment (${\geq}60dB$) in this study was 2 percent(18 out of 871). Conclusion : This study showed a higher prevalence of hearing impairment in high-risk neonates. Thus neonatal hearing screening should be carried out in high-risk neonates.

• Journal of Genetic Medicine
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• v.8 no.2
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• pp.130-134
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• 2011

Saethre-Chotzen syndrome is an autosomal dominant craniosynostosis syndrome, usually involving unior bilateral coronal synostosis and mild limb deformities, and is induced by loss-of-function mutations of the TWIST1 gene. Other clinical features of this syndrome include ptosis, low-set ears, hearing loss, hypertelorism, broad great toes, clinodactyly, and syndactyly. The authors of the present study report 2 children with clinical features of Saethre-Chotzen syndrome who showed mutations in the TWIST1 gene, and is the first molecular genetic confirmation of Saethre-Chotzen syndrome in Korea. The molecular genetic testing of the TWIST1 gene for patients with coronal synostoses is important to confirm the diagnosis and to provide adequate genetic counseling.

• Journal of Genetic Medicine
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• v.16 no.2
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• pp.55-61
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• 2019

Purpose: Genetic defects in the nuclear-encoded mitochondrial aminoacyl-tRNA synthetases were first identified as causes of various disorders in 2007. Variants in IARS2, which encodes a mitochondrial isoleucyl-tRNA synthetase, were first reported in 2014. These variants are associated with diverse phenotypes ranging from CAGSSS (CAtaracts, Growth hormone deficiency, Sensory neuropathy, Sensorineural hearing loss, and Skeletal dysplasia) and Leigh syndrome to isolated nonsyndromic cataracts. Here, we describe the phenotypic and genetic spectrum of Korean patients with IARS2-related disorders. Materials and Methods: Using whole-exome sequencing followed by Sanger sequencing, we identified five patients with IARS2 mutations. Their medical records and brain magnetic resonance images were reviewed retrospectively. Results: All five patients presented with developmental delay or regression before 18 months of age. Three patients had bilateral cataracts, but none had hearing loss or sensory neuropathy. No evidence of skeletal dysplasia was noted, but two had short stature. One patient had cardiomyopathy and another exhibited renal tubulopathy and hypoparathyroidism. Their brain imaging findings were consistent with Leigh syndrome. Interestingly, we found the recurrent mutations p.R817H and p.V105Dfs*7 in IARS2. Conclusion: To our knowledge, this is the first report of Korean patients with IARS2-related disorders. Our findings broaden the phenotypic and genotypic spectrum of IARS2-related disorders in Korea and will help to increase clinical awareness of IARS2-related neurodegenerative diseases.