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Clinical note
Haploinsufficiency A20 misdiagnosed as PFAPA syndrome with Kikuchi disease
Kyo Jin Jo, Su Eun Park, Chong Kun Cheon, Seung Hwan Oh, Seong Heon Kim
Original Article
Endocrinology
Comparison of effectiveness of growth hormone therapy according to disease-causing genes in children with Noonan syndrome
Kyo Jin Jo, Yoo Mi Kim, Ju Young Yoon, Yeoun Joo Lee, Young Mi Han, Han-Wook Yoo, Hyang-Sook Kim, Chong Kun Cheon
Clin Exp Pediatr. 2019;62(7):274-280.   Published online December 3, 2018

Purpose: To analyze the growth response to growth hormone (GH) therapy in prepubertal patients with Noonan syndrome (NS) harboring different genetic mutations. Methods: Twenty-three patients with prepubertal NS treated at Pusan National University Children’s Hospital between March 2009 and July 2017 were enrolled. According to the disease-causing genes identified, the patients with NS were divided into 4 groups. Three groups were...
Review Article
Endocrinology
Understanding of type 1 diabetes mellitus: what we know and where we go
Chong Kun Cheon
Clin Exp Pediatr. 2018;61(10):307-314.   Published online October 4, 2018
The incidence of type 1 diabetes mellitus (T1DM) in children and adolescents is increasing worldwide. Combined effects of genetic and environmental factors cause T1DM, which make it difficult to predict whether an individual will inherit the disease. Due to the level of self-care necessary in T1DM maintenance, it is crucial for pediatric settings to support achieving optimal glucose control, especially...
Case Report
Genetics and Metabolism
The First Korean case of combined oxidative phosphorylation deficiency-17 diagnosed by clinical and molecular investigation
Young A Kim, Yoo-Mi Kim, Yun-Jin Lee, Chong Kun Cheon
Clin Exp Pediatr. 2017;60(12):408-412.   Published online December 22, 2017

Combined oxidative phosphorylation deficiency-17 (COXPD-17) is very rare and is caused by homozygous or compound heterozygous mutations in the ELAC2 gene on chromosome 17p12. The ELAC2 gene functions as a mitochondrial tRNA processing gene, and only 4 different pathogenic mutations have been reported in ELAC2-associated mitochondrial dysfunction involving oxidative phosphorylation. Affected patients show various clinical symptoms and prognosis, depending on...

Original Article
Neurofibromatosis type 1: a single center's experience in Korea
Min Jeong Kim, Chong Kun Cheon
Clin Exp Pediatr. 2014;57(9):410-415.   Published online September 30, 2014
Purpose

Neurofibromatosis 1 (NF1) is an autosomal dominant condition caused by an NF1 gene mutation. NF1 is also a multisystem disorder that primarily affects the skin and nervous system. The goal of this study was to delineate the phenotypic characterization and assess the NF1 mutational spectrum in patients with NF1.

Methods

A total of 42 patients, 14 females and 28 males, were enrolled...

Prader-Willi syndrome: a single center's experience in Korea
Yea Ji Kim, Chong Kun Cheon
Clin Exp Pediatr. 2014;57(7):310-316.   Published online July 23, 2014
Purpose

Prader-Willi syndrome (PWS) is a complex genetic disorder that results from the lack of paternally expressed genes in the chromosome 15q11-q13 region. This study was performed to delineate the clinical features of PWS infants and toddlers and the effects of two-year growth hormone (GH) treatment according to gender and age at the start of treatment.

Methods

The clinical characteristics and the results...

Case Report
Two adolescent patients with coexistent Graves' disease and Moyamoya disease in Korea
Chong Kun Cheon, Su Yung Kim, Jae-Ho Yoo
Clin Exp Pediatr. 2014;57(6):287-291.   Published online June 30, 2014

Moyamoya disease is a cerebrovascular condition that results in the narrowing of the vessels of the circle of Willis and collateral vessel formation at the base of the brain. Although relationships between Graves' disease and cerebrovascular accidents in Moyamoya disease are obscure, the coexistence of the two diseases is noteworthy. Moyamoya disease has been rarely reported in adolescent patients with...

Original Article
The natural history and prognostic factors of Graves' disease in Korean children and adolescents
Seung Min Song, Ji-Seok Youn, Jung Min Ko, Chong Kun Cheon, Jin-Ho Choi, Han Wook Yoo
Clin Exp Pediatr. 2010;53(4):585-591.   Published online April 15, 2010
Purpose : Graves' disease is the most common cause of hyperthyroidism in children and adolescents. In this study, we investigated the natural course and the prognostic factors of Graves' disease in Korean children and adolescents. Methods : One-hundred thirteen (88 girls and 25 boys) patients were included in this study. A retrospective analysis was made of all patients who were diagnosed...
Epidemic acute interstitial pneumonia in children occurred during the early 2006s
Chong Kun Cheon, Hyun-Seung Jin, Eun Kyeong Kang, Hyo Bin Kim, Byoung-Joo Kim, Jinho Yu, Seong Jong Park, Soo-Jong Hong, June Dong Park
Clin Exp Pediatr. 2008;51(4):383-390.   Published online April 15, 2008
Purpose : This study was aimed to analyze the clinical characteristics of patients with acute interstitial pneumonia who had presented similar clinical patterns from March to June, 2006 and to describe our experience of treatment and to identify risk factors associated with prognosis. Methods : The clinical characteristics, radiologic and histopathologic findings and response to steroids of 15 patients (non-survival...
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