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Review Article
Allergy
Phenotypes of allergic diseases in children and their application in clinical situations
Eun Lee, Soo-Jong Hong
Clin Exp Pediatr. 2019;62(9):325-333.   Published online April 23, 2019
Allergic diseases, including allergic rhinitis, asthma, and atopic dermatitis, are common heterogeneous diseases that encompass diverse phenotypes and different pathogeneses. Phenotype studies of allergic diseases can facilitate the identification of risk factors and their underlying pathophysiology, resulting in the application of more effective treatment, selection of better treatment responses, and prediction of prognosis for each phenotype. In the early phase...
Original Article
Neurology
Genotype-phenotype correlations in pediatric patients with myotonic dystrophy type 1
Hyeong Jung Kim, Ji-Hoon Na, Young-Mock Lee
Clin Exp Pediatr. 2019;62(2):55-61.   Published online September 23, 2018

Purpose: Myotonic dystrophy, also known as dystrophia myotonica (DM), is an autosomal dominant disorder with 2 genetically distinct forms. DM type 1 (DM1) is the more common form and is caused by abnormal expansion of cytosine/thymine/guanine (CTG) repeats in the DM protein kinase (DMPK ) gene. Our study aimed to determine whether the age of onset is correlated with CTG...
Review Article
Association of wheezing phenotypes with fractional exhaled nitric oxide in children
Jung Yeon Shim
Clin Exp Pediatr. 2014;57(5):211-216.   Published online May 31, 2014

Asthma comprises a heterogeneous group of disorders characterized by airway inflammation, airway obstruction, and airway hyperresponsiveness (AHR). Airway inflammation, which induces AHR and recurrence of asthma, is the main pathophysiology of asthma. The fractional exhaled nitric oxide (FeNO) level is a noninvasive, reproducible measurement of eosinophilic airway inflammation that is easy to perform in young children. As airway inflammation precedes...

Phenotypes and endotypes of severe asthma in children
Young Yoo
Clin Exp Pediatr. 2013;56(5):191-195.   Published online May 28, 2013

Severe childhood asthma is a complicated and heterogeneous disorder with distinct phenotypes. Children with severe asthma have more persistent symptoms despite receiving treatment, more atopy, greater airway obstruction, and more air trapping than those with mild-to-moderate asthma. They also have higher morbidity and substantial airflow limitations that persist throughout adulthood. Identification of the phenotype clusters and endotypes of severe asthma...

Original Article
A study of the relationship between clinical phenotypes and plasma iduronate-2-sulfatase enzyme activities in Hunter syndrome patients
Ok Jeong Lee, Su-Jin Kim, Young Bae Sohn, Hyung-Doo Park, Soo-Youn Lee, Chi-Hwa Kim, Ah-Ra Ko, Yeon-Joo Yook, Su-Jin Lee, Sung Won Park, Se-Hwa Kim, Sung-Yoon Cho, Eun-Kyung Kwon, Sun Ju Han, Dong-Kyu Jin
Clin Exp Pediatr. 2012;55(3):88-92.   Published online March 16, 2012
Purpose

Mucopolysaccharidosis type II (MPS II or Hunter syndrome) is a rare lysosomal storage disorder caused by iduronate-2-sulfatase (IDS) deficiency. MPS II causes a wide phenotypic spectrum of symptoms ranging from mild to severe. IDS activity, which is measured in leukocyte pellets or fibroblasts, was reported to be related to clinical phenotype by Sukegawa-Hayasaka et al. Measurement of residual plasma IDS...

Review Article
Asthma in childhood: a complex, heterogeneous disease
Hai Lee Chung
Clin Exp Pediatr. 2011;54(1):1-5.   Published online January 31, 2011

Asthma in childhood is a heterogeneous disease with different phenotypes and variable clinical manifestations, which depend on the age, gender, genetic background, and environmental influences of the patients. Several longitudinal studies have been conducted to classify the phenotypes of childhood asthma, on the basis of the symptoms, triggers of wheezing illness, or pathophysiological features of the disease. These studies have...

Original Article
Clinical disease characteristics according to karyotype in Turner syndrome
Chae Young Yeo, Chan Jong Kim, Young Jong Woo, Dae Yeol Lee, Min Sun Kim, Eun Young Kim, Jong Duck Kim
Clin Exp Pediatr. 2010;53(2):158-162.   Published online February 15, 2010
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 incidence of these disorders in patients with TS according to karyotype. Methods : We reviewed medical records of 90 patients with TS diagnosed by chromosomal analysis in 4 hospitals...
Phenotype-genotype correlations and the efficacy of growth hormone treatment in Korean children with Prader-Willi syndrome
Keun Wook Bae, Jung Min Ko, Han-Wook Yoo
Clin Exp Pediatr. 2008;51(3):315-322.   Published online March 15, 2008
Purpose : Prader-Willi syndrome (PWS) is a complex genetic disorder, caused by the deletion of the paternally derived 15q11-13 region or the maternal uniparental disomy of chromosome 15 (mUPD(15)). In this study, we compared phenotypic differences between those patients whose disease was caused by microdeletion and those caused by mUPD(15). In addition, a comparison of the efficacy of growth hormone...
Bronchial Hyperresponsiveness and Atopy in 6-8 Year Old Children According to the History of Wheezing in Early Childhood
Jinho Yu, Young Yoo, Hee Kang, Young Yull Koh
Clin Exp Pediatr. 2004;47(8):873-878.   Published online August 15, 2004
Purpose : It is becoming generally recognized that wheezing in early childhood is a heterogeneous condition and does not always develop into asthma. This study aimed to determine characteristics of wheezing phenotypes in early childhood and investigate their relation to asthma. Methods : Two hundreds and sixty 6-8 year old children with past or present wheezeing were enrolled, and their history...
Characterization of Molecular Defects in Korean Families with Inherited Ornithine Transcarbamylase Deficiency and Their Genotype-Phenotype Correlations
Han-Wook Yoo
Clin Exp Pediatr. 1999;42(7):900-910.   Published online July 15, 1999
Purpose : This study was undertaken to characterize molecular defects in Korean families with ornithine transcarbamylase(OTC) deficiency, correlate it with phenotype using in vitro expression study, and utilize it for making prenatal molecular diagnosis. Methods : To investigate molecular lesions resulting in OTC deficiency in 15 unrelated Korean families, the OTC genes of probands were amplified exon by exon and analyzed...
Clinical Significance of CD7 Expression in Acute Myelocytic Leukemia
Gye Jin Yoon, Pill Sang Jang, Young Choi, Jun A Lee, Hyo Jung Han, Hyoung Soo Choi, Hee Young Shin, Joong Gon Kim, Hyo Seop Ahn
Clin Exp Pediatr. 1999;42(3):374-382.   Published online March 15, 1999
Purpose : It has been shown that a considerable number of acute myeloid leukemia(AML) patients had both myeloid and lymphoid antigens. CD7 is a lymphoid antigen, often expressed in AML cells. We investigated 40 AML patients to clarify the relationship between the cellular characteristics and clinical features. Methods : We reviewed 8 CD7 positive(CD7+) AML patients and 32 CD7 negative(CD7-)...
Immunophenotypic Analysis of Umbilical Cord Blood Stem Cells
Won Ho Kang, Tai Ju Hwang, Hoon Kook, Byung Ju Kim
Clin Exp Pediatr. 1997;40(11):1572-1581.   Published online November 15, 1997
Purpose : Since umbilical cord blood (UCB), which used to be discarded, was found to be a source of enriched hematopoietic stem and progenitor cells, basic research to elucidate characteristics of UCB hematopoietic stem cells (HSCs) and its clinical application to bedside transplantation have been attempted. Moreover, stem cell transplantation (SCT) has expanded its role, not only in hematopoietic reconstitution, but in cancer therapy,...
Pi phenotyping in cord blood of 543 newborns.
Mee Na Lee, Jong Su Chun, Soo Kyung Choi, Yong Kyun Paik
Clin Exp Pediatr. 1991;34(7):907-911.   Published online July 31, 1991
Phenotypes and • gene frequencies in cord blood samples of 543 newborns were studied for Pi phenotypes for the purpose of estimating the risk of diseases associated with genetic deficiency of alpha-1 antitrypsin. Pi phenotypes were performed by polyacrylamide gel separator isoelectric focusing method. The allele frequencies obtained were as follows:'PiM!=0.7670, M2=0.1796 M3=0. 0506, G=0.0018,/P=0.0009. There were no alleles causing severe deficiency such as...