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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
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
Clin Exp Pediatr. 2019;62(6):224-234.   Published online October 4, 2018

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...
Cardiology
Outcomes of transcatheter closure of ductus arteriosus in infants less than 6 months of age: a single-center experience
Gwang-Jun Choi, Jinyoung Song, Yi-Seul Kim, Heirim Lee, June Huh, I-Seok Kang
Clin Exp Pediatr. 2018;61(12):397-402.   Published online September 19, 2018

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...
Case Report
A rare type of single coronary artery with right coronary artery originating from the left circumflex artery in a child
Jong Min Kim, Ok Jeong Lee, I-Seok Kang, June Huh, Jinyoung Song, Geena Kim
Clin Exp Pediatr. 2015;58(1):37-40.   Published online January 31, 2015

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)...

A pediatric case of Brugada syndrome diagnosed by fever-provoked ventricular tachycardia
Geena Kim, Ye-Chan Kyung, I-Seok Kang, Jinyoung Song, June Huh, Young Keun On
Clin Exp Pediatr. 2014;57(8):374-378.   Published online August 25, 2014

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...

Original Article
Transcatheter closure of small ductus arteriosus with amplatzer vascular plug
Eun Hyun Cho, Jinyoung Song, I-Seok Kang, June Huh, Sang Yoon Lee, Eun Young Choi, Soo Jin Kim
Clin Exp Pediatr. 2013;56(9):396-400.   Published online September 30, 2013
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).

Methods

We 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...

The hybrid perventricular closure of apical muscular ventricular septal defect with Amplatzer duct occluder
Soo Jin Kim, June Huh, Jin Young Song, Ji-Hyuk Yang, Tae-Gook Jun, I-Seok Kang
Clin Exp Pediatr. 2013;56(4):176-181.   Published online April 22, 2013
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).

Methods

We retrospectively...

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
Yu Mi Ko, Soo Hyun Lee, June Huh, Hong Hoe Koo, Ji Hyuk Yang
Clin Exp Pediatr. 2012;55(7):249-253.   Published online July 17, 2012

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...

Review Article
Practical stepwise approach to rhythm disturbances in congenital heart diseases
June Huh
Clin Exp Pediatr. 2010;53(6):680-687.   Published online June 23, 2010

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,...

Original Article
Surgical outcome of severe pulmonary arterial hypertension secondary to left-to-right shunt lesions
Cha Gon Lee, Su In Jeong, June Huh, I-Seok Kang, Heung Jae Lee, Ji-Hyuk Yang, Tae Gook Jun
Clin Exp Pediatr. 2010;53(2):195-202.   Published online February 15, 2010
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...
Clinical course and prognosis of hemodynamically significant congenital heart defects in very low birth weight infants
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
Clin Exp Pediatr. 2009;52(4):481-487.   Published online April 15, 2009
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...
Relationship between depression and resilience in adolescents with congenital heart disease
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
Clin Exp Pediatr. 2006;49(5):523-528.   Published online May 15, 2006
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...
Case Report
A Case of Maple Syrup Urine Disease Controlled by Peritoneal Dialysis and Diet
Ju Wan Kim, June Huh, Won Il Park, Kyung Ja Lee, Hong Jin Lee
Clin Exp Pediatr. 2001;44(1):94-98.   Published online January 15, 2001
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...
Original Article
Congenital Heart Anomalies in Patients with Clefts of the Lip and/or Palate
Jin Ho Yu, Jeong Jin Yu, June Huh, Chung Il Noh, Jung Yun Choi, Yong Soo Yu
Clin Exp Pediatr. 2000;43(4):520-525.   Published online April 15, 2000
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...
Effect of Fetal Cardiac Bypass on Fetal Cardiovascular System - Fetal Lamb Study -
Jung Yun Choi, June Huh, Yong Jin Kim, Won Gon Kim, Jeong Ryul Lee, Chong Sung Kim
Clin Exp Pediatr. 1999;42(7):943-952.   Published online July 15, 1999
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...
Longterm Follow-up of Autosomal Recessive Polycystic Kidney Disease
June Huh, Il Soo Ha, Hae Il Cheong, Jeong Kee Seo, Yong Choi
Clin Exp Pediatr. 1998;41(12):1693-1699.   Published online December 15, 1998
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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