• Journal of The Korean Society of Inherited Metabolic disease
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• v.20 no.1
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• pp.29-35
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• 2020

Joubert syndrome (JS) is a rare genetic disorder that is characterized by ataxia, hypotonia, developmental delay, respiratory abnormalities such as apnea-hyperpnea, and abnormal eye movements. The pathognomonic diagnostic finding is the "molar tooth sign" (MTS) on brain magnetic resonance imaging (MRI), described as cerebellar vermis hypoplasia or dysplasia, thick and horizontally oriented superior cerebellar peduncles, and an abnormally deep interpeduncular fossa. JS is characterized by genetic heterogeneity: pathogenic variants in over 30 genes have been identified to date. The CEP290 protein, which is on chromosome 12q21.3, is most frequently mutated in patients with JS, especially with renal involvement. Here, we report a case of JS in a 14-year-old male patient with end-stage renal disease. To the best of our knowledge, this is the first Korean report of a patient with JS due to CEP290 mutation (c.6012-12T> A) whose diagnosis was confirmed after repetitive MRI. We suggest consultation with an experienced neuro-radiologist and follow-up MRI studies to detect a "hidden" MTS if clinical findings suggest a diagnosis of JS. Furthermore, even in the absence of an MTS, whole exome sequencing should be considered.

• The Journal of the Korean life insurance medical association
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• v.20
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• pp.53-61
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• 2001

1999년 1월-1999년 10월까지 당사에서 1급장해로 인해 보험금이 지급된 1,297 건을 대상으로 하여 성별 & 연령대별 분포, 1급장해 각 항의 원인별 분포, 다빈도원인별 1급장해 각 항의 분포상황등을 중심으로 조사하였다. 1. 1급장해지불건들의 성별분포를 보면 남자가 여자보다1.7배 많았다. 연령대별로는 30대가 29.3%로 가장 높았고 다음으로 40대 23.7%, 20대 18.6%, 10세미만 17.6% 순서 였다. 2. 1급장해 각항별 점유율을 보면 1급3항이 56.9%로 가장 높았고 다음으로 1급4항이 16.0%로 많았다. 3. 1급장해의 원인별 분포를 보면 '교통사고' 및 '교통사고외의 외상'이 597건(40.6%)으로 가장 많이 차지하였고 다음으로 '기타질병' 256건(19.7%) '뇌혈관사고' 245건(18.7%), '만성신부전' 194건(15.0 %), 그리고 '악성종양' 36건(2.8%)의 순서였다. 1) 1급 1항 : 두눈의 시력을 완전영구히 잃었을 때 원인중 가장 많은 것은 '기타질병' 74건(64%)이었고 다음으로는 '당뇨병' 17건(14.9) 그리고 '교통사고'의 순서였다. '기타질병'에 해당하는 병중에서 눈의 질환들을 더 분류하여 볼 때 '맥락막 및 망막의 장애'가 25건(35.7%)으로 가장 많았고 다음으로 '시신경 및 시각경로의 장애' 20건(28.6%) 그리고 '수정체의 장애'의 순서였다. 2) 1급 3항 : 중추신경계, 정신에 뚜렷한 장해를 남겨서 평생토록 항상 간호를 받아야 할 때 원인으로는 '교통사고' 245건(33.2%)이 가장 많았고 다음으로 '뇌혈관사고' 215건(29.1%) 그리고 '교통사고외의 외상'의 순서였다. 뇌혈관사고 215건에 대해서 원인별분포를 보면 '뇌내출혈'이 131건(60.9%)로 '뇌경색 ' 57건(26.5%)에 비해 2.3배 정도 많았다. 3) 1급 4항 : 흉복부장기에 뚜렷한 장해를 남겨서 평생토록 항상 간호를 받아야 할 때 원인으로는 '만성신부전'이 215건(86.5%)으로 가장 많이 차지하고 있었고 다음으로 '기타질병' 14건(6.7%)의 순서였다. 4) 1급 6항 : 두다리의 발목이상을 잃었거나 완전영구히 사용하지 못하게 되었을 때 원인으로는 '교통사고' 41건(41.0%)로 가장 많았고 다음으로 '교통사고외의 외상' 32건 (32.0%) 그리고 다음으로 '근골격계, 결합조직의 질환' 순서였다. 4. 장해원인별 1급장해 각 항의 분포를 보면 '만성신부전'은 1급 4항, '악성종양'은 1급 3항과 1급2항 그리고 1항의 장해를 주로 일으키고 '당뇨병'은 1급 1항, '뇌혈관사고'는 1급3항과 1급2항의 장해를 주로 일으켰다. 한편 '교통사고'나 '교통사고외의 외상'은 주로 1급3항과 1급6항의 장해를 주로 일으켰다.

• Journal of Korean Ophthalmic Optics Society
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• v.18 no.4
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• pp.555-560
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• 2013

Purpose: The aims of this study were to investigate the stereoacuity and subjective symptoms of aniseikonia with prescription of the size lens. Methods: Participants were myopic anisometropia patients with the binocular refraction difference between 1.75 D~3.50 D. Inclusion criteria of participants were no ocular pathology, no amblyopia, more than 1.0 of corrected visual acuity. With fully corrected spectacles and a correction with the size lens, Awaya aniseikonia test and Randot Stereo test were conducted respectively. In addition, subjective symptoms were also examined using questionnaire. Results: As the anisometropia increased, the aniseikonia increased. Under the anisometropia with same refractive correction was different for each individual. The prescription of size lens caused less aniseikonia than the general prescription of glasses. In addition, prescription of the size lens improved stereoacuity and relieved the symptoms of asthenopia. Conclusions: The prescription of size lens that can correct aniseikonia with prescription of glasses can improve stereoacuity and reduced asthenopia.

• Journal of Korean Ophthalmic Optics Society
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• v.20 no.3
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• pp.349-354
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• 2015

Purpose: To investigate the changes of corrective values of astigmatism caused by the position of circle of least confusion on retina in refining astigmatic test using cross cylinder. Methods: 62 subjects (115 eyes) aged $22.24{\pm}2.48$ years participated for this study. After astigmatic test using a radial chart, refining test was performed using a cross cylinder in a condition of maximum plus to maximum visual acuity (MPMVA). Astigmatic refining test was repeatedly performed in each condition of which S+0.75 D, S+0.50 D, S+0.25 D, S-0.25 D, S-0.50 D, and S-0.75 D are added to spherical lenses of MPMVA. The measured values were compared with the values in MPMVA condition. Results: As compared with values in condition of MPMVA, change of astigmatic axis was increased with add the power of (+) spherical lenses and (-) spherical lenses. In same spherical condition, change of astigmatic axis was decreased with increment of astigmatic power (p<0.05). The corrective power of astigmatism was reduced with increment of (+) spherical lenses (p<0.05), and was raised with increment of (-) spherical lenses compared with the power in MPMVA condition. In case of adding (+) spherical lenses, difference of astigmatic power increased with increment of corrective astigmatism power in same test condition. Conclusions: In order to obtain a proper values for corrective astigmatism, position of circle of least confusion should be accurately adjusted before the performing an astigmatism's refining test.

• Journal of Korean Ophthalmic Optics Society
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• v.14 no.3
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• pp.89-93
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• 2009

Purpose: To purpose of this study was the pure-tone audimetry changes to compare pre and post fogging after visual correction in normally hearing adults. Methods: The estimated that no ocular and audiolar disesases, we selected (male: 30, female: 20) in corrected visual acuity over the 1.0 eye. Pre and post fogging were measured using the pure-tone audimetry. Results: To compared fre and post fogging, fre fogging was higher than fre fogging. The take value were just about every kind of Hz but 200 Hz, respectively which were statistically significant (p<.05). Low Hz area in 250 and 500 Hz were 6.8${\pm}$8.4dBHL, 4.3${\pm}$6.6dBHL, there is not all the difference between any other area, 2000 Hz in the middle Hz area was 0.8${\pm}$4.5dBHL. Conclusions: The study presents different results of measurements in within normal limits. we thought that pure-tone thresholds to the pre and post fogging after refractive correction in normal adults and would be used basic data.

• Pediatric Infection and Vaccine
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• v.25 no.3
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• pp.113-122
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• 2018

Purpose: The aim of this study was to evaluate the clinical characteristics of children diagnosed as cryopyrin-associated periodic syndrome (CAPS) in Korea. Methods: Diagnosis was made based on clinical features and confirmed by a mutation in the cold-induced autoinflammatory syndrome 1 (CIAS1) gene. Especially, osteocartilaginous overgrowth in the patella or distal femur was so characteristic that its presence warranted a diagnosis of chronic infantile neurologic cutaneous and articular/NOMID. Results: We observed the clinical features of 9 Korean CAPS patients. All the patients suffered from an urticarial rash with recurrent fever. Among the 9 patients, 6 presented with rash and 4 with fever on the 1st or 2nd days of birth. Eight patients showed myalgia, and 7 patients showed arthralgia in the joints, and 6 patients showed radiologic findings of arthropathy including cupping of the metaphysis, excessive growth of the epiphysis, osteopenia or overgrowth of the cartilage. Four patients showed brain atrophy, enlarged ventricles or leptomeningeal enhancement on magnetic resonance imaging. Intellectual disability was observed in 1 patient. Five patients had eye involvement as conjunctivitis, uveitis, chorioretinitis, avascular area or papillary edema, and 3 patients showed progressive hearing loss. All 9 patients showed increased C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR). Conclusions: All the patients carried a mutation on exon 3 of the CIAS1 gene. After the anakinra (interleukin-1 receptor antagonist) therapy, the fever and rash immediately disappeared, and CRP and ESR were improved.

• Journal of the Korea Academia-Industrial cooperation Society
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• v.21 no.12
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• pp.10-15
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• 2020

Ultraviolet rays, which have wavelengths smaller than 400 nm, are very harmful to the eyes. Recently, high-energy visible light was also revealed to be harmful to retinal cells. Therefore, polymer eyeglass lenses that can block UV and high-energy visible light are needed for eye health. In this study, high-refractive-index polymer eyeglass lens, n=1.67, were manufactured using the injection-mold method with the m-xylene diisocyanate monomer, 2,3-bis((2-mercaptoethyl)thio)-1-propanethiol monomer, benzotriazole UV absorber, release of alkyl phosphoric ester, dye mixture of CI solvent violet 13, and catalyst of dibutyltin dichloride mixture. A multi-layer anti-reflection coating was applied to manufactured polymer eyeglass lenses for both sides using an E-beam evaporation system. The optical properties of the manufactured lenses with the UV and high-energy visible light-blocking function were analyzed by UV-visible spectrophotometry. As a result, the polymer eyeglass lens with a UV absorber of 0.5 wt. % blocked 99% of UV and high-energy visible light shorter than 411 nm. The average transmittance of the polymer eyeglass lens with a UV absorber of 0.5wt.% was 97.9% in the range of 460 ~ 660 nm for photopic eye sensitivity higher than 10%. Therefore, clear image acquisition in photopic vision is possible.

• Science of Emotion and Sensibility
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• v.25 no.1
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• pp.79-90
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• 2022

IThe perception of sub-second duration through the visual sensory system is affected by non-temporal characteristics (factors other than the duration of the stimulus). However, studies have shown that if distance information is abundant and size constancy maintained, the duration of the target is constantly perceived. The current study examined the relationship between size and time perception constancy in a three-dimensional environment with limited distance information. A device was constructed to limit the participants' bilateral and monocular cues. This prevented participants from maintaining size constancy, resulting in size illusions that could not accurately perceive physical size. In Experiment 1, the size of the physical stimulus of reference and test stimuli were the same at all viewing distances. The results suggest that, despite the same physical size, stimuli with close observations were perceived to be greater and lasted longer. In Experiment 2, the retinal size of the reference stimuli and test stimuli was controlled equally at all viewing distances. As a result, although the physical size of the stimuli increased as the observation increased, the perceived size of all the stimuli was the same. Therefore, the duration of the target was constantly perceived at all viewing distances. The results of this study demonstrate that even when distance information is limited, time perception is affected by the perceived size of the object. It also suggests that when rich distance information exists, the duration of the object can be constantly perceived even if the observation distance varies.

• Journal of Chest Surgery
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• v.32 no.6
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• pp.525-531
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• 1999

Background: We analyzed five hundred patients who underwent either isolated or concomitant coronary artery bypass grafting(CABG) between November 1981 and June 1997. Material and Method: There were 330 males and 170 females with a mean age of 57.4$\pm$8.9 years. To evaluate the preoperative status, we performed electrocardiograghy, echocardiography, MIBI scan, Duplex sonogram, common blood test including CK and LDH and coronary angiography. Result: Preoperative clinical diagnoses were unstable angina in 282 (56.4%), stable angina in 141 (28.2%), postinfarction angina in 58 (11.6%), acute myocardial infarction in 8 (1.6%), variant angina in 7 (1.4%) and failed percutaneous transluminal coronary angioplasty in 4 (0.8%) patients. Preoperative angiographic diagnoses were three-vessel disease in 263 (52.6%), two-vessel disease in 93 (18.6%), one-vessel disease in 71 (14.2%), left main disease in 68 (13.6%), and others in 5 (1.0%) patients. Patients had various risk factors for coronary disease, and the frequency of the risk factors such as hypertension, diabetes and smoking showed increasing tendency year by year. We used saphenous vein grafts in 1143, internal thoracic artery grafts in 442, radial artery graft in 17, and gastroepiploic artery graft in 1 anastomosis. The mean number of grafts was 3.2$\pm$1.2 per patient. Concomitant operations were prosthetic valve replacement or valvuloplasty in 31, coronary endarterectomy and angioplasty in 27, left main coronary angioplasty in 13, carotid endarterectomy in 5, and neurologic problems, bleeding, and perioperative myocardial infarction. The mean follow-up period was 25$\pm$23 months and there were 5 cases of reoperation. Conclusion: We hope that the surgical results would improve with the accumulation of experience, application of new myocardial protection technique, and timely intervention of mechanical assisted devices.

• Clinical and Experimental Pediatrics
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• v.45 no.5
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• pp.596-602
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• 2002

Purpose : The purpose of this study was to analyze the association of peripheral neutrophil count with the development of respiratory failure in preterm infants. Methods : A retrospective study was conducted from January 1993 to December 1999 on 44 preterm infants, who were admitted to the neonatal intensive care unit of St. Francisco hospital. Preterm infants(birth weight 500 to 1,350 gm) who had a complete blood count obtained within 2 hours after delivery. Patients in the lowest of neutrophil count(early neutropenia, < $1.0{\times}10^9/L$) were compared with patients in the remaining group. Results : Low neutrophil count were transient in early neutropenia group. The concentration the circulating neutrophil count rose from $0.85{\pm}0.11{\times}10^9/L$ at average of 2 hours after delivery to $5.3{\pm}2.7{\times}10^9/L$ at 24 hours after delivery in the early neutropenia group and from $3.6{\pm}1.6{\times}10^9/L$ to $5.8{\pm}3.2{\times}10^9/L$ in the non-neutropenia group during the same time period. Compare to the non-neutropenia group, the neutropenia group had a lower birth weight($1,046.50{\pm}180.76gm$ Vs $1,156.70{\pm}124.99gm$), a lower Apgar score(1 min : $3.41{\pm}1.18$ Vs $4.30{\pm}1.46$, 5 min : $5.41{\pm}0.87$ Vs $6.15{\pm}0.95$), and a higher incidence of bronchopulmonary dysplasia(27.27% Vs 7.0%). Patients who had early neutropenia were more likely to require mechanical ventilation, supplemental oxygen and hospital stay. Also, main effect factors for the two groups were birth weight(Odds ratio=5.457, 95% CI=1.551-27.525), initial peripheral blood white cells(odds ratio=8.308, 95% CI=2.054-52.699), and bronchopulmonary dysplasia(odds ratio=0.099, 95% CI=0.017-0.397). Conclusion : A low count of neutrophil in the systemic circulation of premature infants within 2 hours of birth is associated with more severe respiratory distress.