- Original Article
- Genetics and Metabolism
- Clinical and molecular characterization of Korean children with infantile and late-onset Pompe disease: 10 years of experience with enzyme replacement therapy at a single center
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Min-Sun Kim, Ari Song, Minji Im, June Huh, I-Seok Kang, Jinyoung Song, Aram Yang, Jinsup Kim, Eun-Kyung Kwon, Eu-Jin Choi, Sun-Ju Han, Hyung-Doo Park, Sung Yoon Cho, Dong-Kyu Jin
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Clin Exp Pediatr. 2019;62(6):224-234. Published online October 4, 2018
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Purpose: Pompe disease (PD) is an autosomal recessive disorder caused by a deficiency of acid alphaglucosidase resulting from pathogenic GAA variants. This study describes the clinical features, genotypes, changes before and after enzyme replacement therapy (ERT), and long-term outcomes in patients with infantile-onset PD (IOPD) and late-onset PD (LOPD) at a tertiary medical center.
Methods: The medical records of 5 Korean... |
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- Cardiology
- Outcomes of transcatheter closure of ductus arteriosus in infants less than 6 months of age: a single-center experience
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Gwang-Jun Choi, Jinyoung Song, Yi-Seul Kim, Heirim Lee, June Huh, I-Seok Kang
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Clin Exp Pediatr. 2018;61(12):397-402. Published online September 19, 2018
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Purpose: Transcatheter device closure of patent ductus arteriosus (PDA) is challenging in early infancy. We evaluated PDA closure in infants less than 6 months old.
Methods: We performed a retrospective review of infants less than 6 months of age who underwent attempted transcatheter device closure in our institution since 2004. To compare clinical outcomes between age groups, infants aged 6–12 months... |
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- Case Report
- A rare type of single coronary artery with right coronary artery originating from the left circumflex artery in a child
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Jong Min Kim, Ok Jeong Lee, I-Seok Kang, June Huh, Jinyoung Song, Geena Kim
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Clin Exp Pediatr. 2015;58(1):37-40. Published online January 31, 2015
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The presence of a single coronary artery is a rare congenital anomaly; such patients often present with severe myocardial ischemia. We experienced the case of a 13-year-old girl with the right coronary artery originating from the left circumflex artery. She visited our Emergency Department owing to severe chest pain; her cardiac enzyme levels were elevated, but her initial electrocardiogram (ECG)... |
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- A pediatric case of Brugada syndrome diagnosed by fever-provoked ventricular tachycardia
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Geena Kim, Ye-Chan Kyung, I-Seok Kang, Jinyoung Song, June Huh, Young Keun On
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Clin Exp Pediatr. 2014;57(8):374-378. Published online August 25, 2014
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Brugada syndrome is a rare channelopathy associated with the SCN5A gene that causes fatal ventricular arrhythmias. This case of Brugada syndrome, in which ventricular tachycardia (VT) was provoked by high fever, is the first report in a Korean child. The boy had retinoblastoma of his left eye diagnosed at 16 months of age. After chemotherapy, he contracted a catheter-related infection... |
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- Original Article
- Transcatheter closure of small ductus arteriosus with amplatzer vascular plug
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Eun Hyun Cho, Jinyoung Song, I-Seok Kang, June Huh, Sang Yoon Lee, Eun Young Choi, Soo Jin Kim
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Clin Exp Pediatr. 2013;56(9):396-400. Published online September 30, 2013
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Purpose The purpose of this study was to share our experience of transcatheter closure of small patent ductus arteriosus (PDA) by using an Amplatzer vascular plug (AVP). MethodsWe reviewed the medical records of 20 patients who underwent transcatheter closure at Samsung Medical Center and Sejong General Hospital from January 2008 to August 2012. The size and shape of the PDAs were evaluated... |
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- The hybrid perventricular closure of apical muscular ventricular septal defect with Amplatzer duct occluder
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Soo Jin Kim, June Huh, Jin Young Song, Ji-Hyuk Yang, Tae-Gook Jun, I-Seok Kang
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Clin Exp Pediatr. 2013;56(4):176-181. Published online April 22, 2013
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Purpose Apical muscular ventricular septal defects (MVSDs), especially in small infants, can be difficult to manage using surgical and percutaneous closure. An intraoperative perventricular procedure is a good option for closing apical MVSDs in small children with or without associated cardiac anomalies. We evaluated the results of hybrid perventricular closure of apical MVSDs performed using an Amplatzer duct occluder (ADO). MethodsWe retrospectively... |
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- Case Report
- A fatal case of acute pulmonary embolism caused by right ventricular masses of acute lymphoblastic lymphoma-leukemia in a 13 year old girl
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Yu Mi Ko, Soo Hyun Lee, June Huh, Hong Hoe Koo, Ji Hyuk Yang
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Clin Exp Pediatr. 2012;55(7):249-253. Published online July 17, 2012
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We report a case of a 13-year-old girl with acute lymphoblastic lymphoma-leukemia, who presented with a cardiac metastasis in the right ventricle, resulting in a pulmonary embolism. At the time of her leukemia diagnosis, a cardiac mass was incidentally found. The differential diagnosis for this unusual cardiac mass included cardiac tumor, metastasis, vegetation, and thrombus. Empirical treatment was initiated, including... |
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- Review Article
- Practical stepwise approach to rhythm disturbances in congenital heart diseases
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June Huh
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Clin Exp Pediatr. 2010;53(6):680-687. Published online June 23, 2010
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Patients with congenital heart diseases (CHD) are confronted with early- and late-onset complications, such as conduction disorders, arrhythmias, myocardial dysfunction, altered coronary flow, and ischemia, throughout their lifetime despite successful hemodynamic and/or anatomical correction. Rhythm disturbance is a well-known and increasingly frequent cause of morbidity and mortality in patients with CHD. Predisposing factors to rhythm disturbances include underlying cardiac defects,... |
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- Original Article
- Surgical outcome of severe pulmonary arterial hypertension secondary to left-to-right shunt lesions
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Cha Gon Lee, Su In Jeong, June Huh, I-Seok Kang, Heung Jae Lee, Ji-Hyuk Yang, Tae Gook Jun
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Clin Exp Pediatr. 2010;53(2):195-202. Published online February 15, 2010
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Purpose : Despite recent advances in pulmonary hypertension management and surgery, appropriate guidelines remain to be developed for operability in congenital heart disease with pulmonary artery hypertension (PAH). Our aim was to evaluate clinical outcomes of patients with severe PAH who underwent surgical closure of left-to-right shunt lesions (LRSL) on the basis of pulmonary reactivity.
Methods : We retrospectively reviewed 21... |
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- Clinical course and prognosis of hemodynamically significant congenital heart defects in very low birth weight infants
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Hye Soo Yoo, Ji Eun Kim, Soo Kyoung Park, Hyun Ju Seo, Yoo Jin Jeong, Seo Heui Chio, Soo In Jeong, Sung Hoon Kim, Ji Hyuk Yang, June Huh, Yun Sil Chang, Tae Gook Jun, I Seok Kang, Won Soon Park, Pyo Won Park, Heung Jae Lee
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Clin Exp Pediatr. 2009;52(4):481-487. Published online April 15, 2009
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Purpose : This study investigated the clinical course and prognostic factor of very low birth weight infants (VLBWI) with hemodynamically significant congenital heart defects (CHDs).
Methods : Medical records of 1,098 VLBWI with birth weight <1,500 g who had been admitted to the neonatal intensive care unit of Samsung Medical Center from October 1994 to December 2007 were reviewed retrospectively. The... |
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- Relationship between depression and resilience in adolescents with congenital heart disease
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Ju Ryoung Moon, Yoen Yi Jung, June Huh, I-Seok Kang, Seung Woo Park, Ji-Hyuk Yang, Tae-Gook Jun, Myung Ja Kim, Heung Jae Lee
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Clin Exp Pediatr. 2006;49(5):523-528. Published online May 15, 2006
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Purpose : The purpose of this study was to investigate the relationship between depression and resilience in adolescents with congenital heart disease(CHD) and to identify the variables associated with depression.
Methods : The Resilience Scale(cronbach’s α=0.92), Children's Depression Inventory(cronbach’s α= 0.72) and Maternal Behavior Research Instrument(cronbach’s α=0.88) were applied and analyzed to assess depression and resilience among 231 adolescents after... |
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- Case Report
- A Case of Maple Syrup Urine Disease Controlled by Peritoneal Dialysis and Diet
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Ju Wan Kim, June Huh, Won Il Park, Kyung Ja Lee, Hong Jin Lee
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Clin Exp Pediatr. 2001;44(1):94-98. Published online January 15, 2001
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Maple syrup urine disease is an autosomal recessive disease caused by a deficiency of the branched-chain α-ketoacid dehydrogenase complex.
The disease is often suspected because of the peculiar odor of maple syrup in urine. Maple syrup urine disease is usually confirmed by amino acid analysis and urine organic acid analysis showing marked elevations of leucine, isoleucine, valine, and respective ketoacids in... |
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- Original Article
- Congenital Heart Anomalies in Patients with Clefts of the Lip and/or Palate
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Jin Ho Yu, Jeong Jin Yu, June Huh, Chung Il Noh, Jung Yun Choi, Yong Soo Yu
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Clin Exp Pediatr. 2000;43(4):520-525. Published online April 15, 2000
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Purpose : The prevalence of congenital heart anomalies is known to be higher in patients with clefts of the lip and/or palate(CL/P). The purpose of this study was to determine the prevalence and type of congenital heart anomalies in patients with CL/P.
Methods : We investigated congenital heart anomalies in 756 patients presented with CL/P from January 1986 to December... |
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- Effect of Fetal Cardiac Bypass on Fetal Cardiovascular System - Fetal Lamb Study -
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Jung Yun Choi, June Huh, Yong Jin Kim, Won Gon Kim, Jeong Ryul Lee, Chong Sung Kim
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Clin Exp Pediatr. 1999;42(7):943-952. Published online July 15, 1999
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Purpose : This study was aimed to evaluate the feasibility of echo-Doppler study on fetal lamb, analyse the distribution of blood flow before and after fetal cardiac bypass, and consequently assess the effect of fetal cardiac bypass on the fetal cardiovascular system.
Methods : Ten fetal lambs at 120 to 150 days of gestation which underwent cardiac bypass for 30 minutes... |
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- Longterm Follow-up of Autosomal Recessive Polycystic Kidney Disease
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June Huh, Il Soo Ha, Hae Il Cheong, Jeong Kee Seo, Yong Choi
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Clin Exp Pediatr. 1998;41(12):1693-1699. Published online December 15, 1998
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Purpose : This study was aimed to assess the clinical manifestations and courses of autosomal recessive polycystic kidney disease(ARPKD).
Methods : The medical records of 10 children diagnosed as infantile or juvenile ARPKD at Seoul National University Children's Hospital between January, 1984 and December, 1996, were reviewed, retrospectively.
Results : The average age at diagnosis was 3 8/12 years(4months-7 3/12 years)... |
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- Autonomic Activity, Cardiac Chaos and Circadian Rhythm in Asymptomatic Children with Postoperative Tetralogy of Fallot
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Myung-Kul Yum, Nam-Su Kim, Jae-Won Oh, Chang-Ryul Kim, Chul-Burm Lee, June Huh, Chung-Il Noh
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Clin Exp Pediatr. 1998;41(11):1517-1529. Published online November 15, 1998
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Purpose : This study aimed to characterize the autonomic and chaotic control of heart rate and circadian rhythm in asymptomatic patients with postoperative tetralogy of Fallot(pTOF).
Methods : Twenty-four-hour electrocardiogram recordings were obtained in 30 asymptomatic pTOF patients and in 30 age-and sex-matched controls, aged between 6 and 11 years. The data was digitized and partitioned into sections of 30-... |
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- Hypophosphatemic Rickets
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Jae un, June Huh, Il Soo Ha, Hae Il Cheong, Yong Choi
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Clin Exp Pediatr. 1994;37(3):376-382. Published online March 15, 1994
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The clinical data of 27 patients with hypophosphatemic rickets treated with phosphate and 1 α-hydroxyvitamin D were analysed retrospectively. The median age at diagnosis was 4 years, and the main clinical manifestations were bowleg and short stature. Among total 24 families, 5 families(21%) had X-linked dominant mode of inheritance, 1 family (4%) had autosomal dominant mode and 17 families (71%)... |
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- Serum Alkaline Phosphatase Activity after Intravenous Administration of Albumin Preparation
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June Huh, Kang Mo Ahn, Ja Wook Koo, Il Soo Ha, Hae Il Cheong, Yong Choi
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Clin Exp Pediatr. 1993;36(6):830-836. Published online June 15, 1993
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Serum alkaline phosphatase(AP) activity is elevated in hepatobiliary disease, bone disease, pregnancy and certain neoplasms. Recently we experienced marked elevation of serum AP activity after administration of ablumin preparation in nephrotic patients who suffered from hypovolemic symptoms. So serum AP activity and the isoenzymes in the albumin preparations & patient뭩 serum after the administration of albumin preparation were studied. Serum... |
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