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Two cases of Fabry disease identified in brothers

Cho JE, Hong YH, Lee YG, Yoo HW, Lee DH

Fabry disease is a rare, X-linked inborn error of glycosphingolipid catabolism caused by a mutation in the gene encoding the alpha-galactosidase A (GLA) enzyme. We report two cases of Fabry...
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Clinical disease characteristics according to karyotype in Turner syndrome

Yeo CY, Kim CJ, Woo YJ, Lee DY, Kim MS, Kim EY, Kim JD

PURPOSE: Turner syndrome (TS) is a disorder in which various anomalies can be accompanied, especially cardiovascular, renal, thyroid and auditory problems. The aim of this study is to identify the...
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Human rhinoviruses and asthma in children

Kim WK

Human rhinoviruses (HRVs) is a nonenveloped, single stranded RNA virus belonging to the family Picornavirudae. Transmission by direct contact such as hand-to-hand, hand-to-nose, and hand-to-eye has been readily demonstrated in...
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Environmental tobacco smoke and childhood asthma

Song DJ

In recent years, environmental tobacco smoke (ETS) has become an important worldwide public health issue. Children are particularly vulnerable to ETS because they are still developing. ETS exposure causes a...
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Pseudomembranous colitis in children: Experience of a university hospital in Korea

Park JH, Kang KJ, Kang YN, Kim AS, Hwang JB

PURPOSE: Pseudomembranous colitis (PMC) occurs rarely in children, but its incidences are increasing due to frequent antibiotic use. We investigated the incidence and clinical characteristics of PMC accompanied by bacterial...
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Natural killer T cell and pathophysiology of asthma

Jang GC

Natural killer T (NKT) cell is a special type of T lymphocytes that has both receptor of natural killer (NK) cell (NK1.1, CD161c) and T cell (TCR) and express a...
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Decreased heart sound in a healthy newborn: Spontaneous multiseptated cystic pneumomediastinum with delayed respiratory distress

Choe YJ, Kim ES, Kim EK, Kim HS, Chun JE, Kim WS, Kim IO, Choi JH

Spontaneous pneumomediastinum in the absence of predisposing risk factors has been rarely observed in full-term neonates. A 3-day-old neonate, delivered vaginally at term without any perinatal complications or signs of...
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A case of atypical hemolytic uremic syndrome as an early manifestation of acute lymphoblastic leukemia

Han DK, Baek HJ, Cho YK, Kim CJ, Shin MG, Kook H, Hwang TJ

Hemolytic uremic syndrome (HUS) is the most common cause of acute renal failure in children younger than 4 years and is characterized by microangiopathic hemolytic anemia, acute renal failure, and...
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Analysis of prognostic factors of laparotomy for necrotizing enterocolitis in extremely low birth weight infants

Kim JK, Kim YS, Yoo HS, Ahn SY, Choi SH, Seo HJ, Park SK, Jung YJ, Kim MJ, Jeon GW, Koo SH, Lee KH, Chang YS, Park WS

PURPOSE: With improved survival of extremely low birth weight infants (ELBWI), there is an increase in the incidence of necrotizing enterocolitis (NEC) requiring laparotomy, and the risk of morbidity and...
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Final height of patients with congenital heart disease

Lee SJ, Cho YK, Ma JS

PURPOSE: Growth impairment is usually observed in children with congenital heart disease (CHD). Studies on the final height and weight of this population are insufficient. Our aim was to evaluate...
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Ocular manifestations in Leigh syndrome

Kim KR, Byeon SH, Lee YM, Kang HC, Lee JS, Kim HD

PURPOSE: Leigh syndrome is a typical type of mitochondrial disease. This study was conducted to analyze the types of ophthalmologic symptoms and results of funduscopy conducted in the ophthalmologic examination...
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A case of postoperative nasopharyngeal reflux associated with retropharyngeal lymphangioma in newborn infant

Koo KY, Lee JS, Lee SM, Park MS, Namgung R, Park KI, Lee C, Yoon CS, Jung WH, Choi HS

Lymphangioma is a rare benign congenital tumor of the lymphatic system, which is commonly diagnosed before 2 years of age. In the natronal report, cystic lymphangioma was usually reported as...
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Ototoxicity in children receiving cisplatin chemotherapy

Jang HJ, Cho HR, Lee JH, Bae KY, Seo JJ, Moon HN, Im HJ

PURPOSE: Cisplatin is highly effective for the treatment of solid tumors in children. However, the clinical use of cisplatin is limited by its ototoxicity. The aim of this study was...
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A study of factors influencing advanced puberty

Park YJ, Moon CM, Yoo HJ

PURPOSE: The purpose of this study was to evaluate the timing of puberty and the factors inducing advanced puberty in elemental school students of low grades. METHODS: The 1st, 2nd, and...
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Detection of genetic mutations associated with macrolide resistance of Mycoplasma pneumoniae

Oh CE, Choi EH, Lee HJ

PURPOSE: The aim of this study was to identify mutations associated with macrolide resistance in Mycoplasma pneumoniae (MP) and to establish a cultural method to determine antimicrobial susceptibility. METHODS: Nasopharyngeal aspirates...
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The characteristic laboratory findings of non-responsiveness to intravenous immunoglobulin in children with Kawasaki disease

Cho HG, Cho YK, Ma JS

PURPOSE: Although intravenous immunoglobulin (IVIG) treatment is an effective first-line treatment for Kawasaki disease, 10-20% of the patients develop persistent fever or coronary artery complications. Medical records of Kawasaki disease...
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Acoustic variations associated with congenital heart disease

Oh JE, Choi YM, Kim SJ, Joo CU

PURPOSE: To investigate the nature of deviant voice physiology in preoperative children with congenital heart disease. METHODS: Ninety-four children with congenital heart disease were enrolled. Their cries and related acoustic variables...
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Clinical characteristics of vitamin D deficiency rickets in infants and preschool children

Huh K, Woo MK, Yoon JR, Shim GH, Chey MJ, Park MJ

PURPOSE: Vitamin D deficiency rickets is a significant public health problem that results from insufficient exposure to sunlight and inadequate vitamin D supplementation. The purpose of this study is to...
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A case of encephalitis in a juvenile rheumatoid arthritis patient treated with etanercept

Kwon AR, Park EJ, Kim KH, Kim DS

Tumor necrosis factor-alpha (TNF-alpha) is a major proinflammatory cytokine involved in the pathophysiology of juvenile rheumatoid arthritis. Etanercept is an effective inhibitor of TNF-alpha and has shown a beneficial effect...
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High-dose caspofungin salvage in a very-low-birth-weight infant with refractory candidemia

Seo ES, Park GH, Kim SM, Jung HA, Kim BK

Candidiasis is one of the most common causes of late-onset infection among very-low-birth-weight infants (VLBW) in most neonatal intensive care units and is associated with significant morbidity and mortality. Standard...
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