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Case Report
Neurology
Two cases of familial cerebral cavernous malformation caused by mutations in the CCM1 gene
Im-Yong Yang, Mi-Sun Yum, Eun-Hee Kim, Hae-Won Choi, Han-Wook Yoo, Tae-Sung Ko
Clin Exp Pediatr. 2016;59(6):280-284.   Published online June 30, 2016

Cerebral cavernous malformation (CCM) is a vascular malformation characterized by abnormally enlarged capillary cavities without any intervening neural tissue. We report 2 cases of familial CCMs diagnosed with the CCM1 mutation by using a genetic assay. A 5-year-old boy presented with headache, vomiting, and seizure-like movements. Brain magnetic resonance imaging (MRI) revealed multiple CCM lesions in the cerebral hemispheres. Subsequent...

Original Article
Endocrinology
Lipopolysaccharide-binding protein plasma levels as a biomarker of obesity-related insulin resistance in adolescents
Ki Eun Kim, Young Sun Cho, Kyung Suk Baek, Lan Li, Kwang-Hyun Baek, Jung Hyun Kim, Ho-Seong Kim, Youn Ho Sheen
Clin Exp Pediatr. 2016;59(5):231-238.   Published online May 31, 2016
Purpose

Lipopolysaccharide-binding protein (LBP) is a 65-kDa acute phase protein, derived from the liver, which is present in high concentrations in plasma. Data regarding the association between circulating plasma LBP levels and obesity-related biomarkers in the pediatric population are scarce. We aimed to determine whether there was a difference in plasma LBP levels between overweight/obese and normal-weight adolescents and to assess...

Gastroenterology
Diagnostic value of the Vesikari Scoring System for predicting the viral or bacterial pathogens in pediatric gastroenteritis
Dong Ho Shim, Dong Yeon Kim, Ky Young Cho
Clin Exp Pediatr. 2016;59(3):126-131.   Published online March 31, 2016
Purpose

To evaluate the diagnostic value of the Vesikari Scoring System (VSS) as an early predictor of pathogens in children with acute gastroenteritis (AG).

Methods

In this retrospective study, the VSS score, absolute neutrophil count (ANC), and C-reactive protein (CRP) levels were analyzed in 107 hospitalized children with AG, aged 6 months to 17 years. Patients were divided into nonspecific, viral, and bacterial...

Low levels of tissue inhibitor of metalloproteinase-2 at birth may be associated with subsequent development of bronchopulmonary dysplasia in preterm infants
Choae Lee, Jaewoo An, Ji Hee Kim, Eun Sun Kim, Soo Hyun Kim, Yeon Kyung Cho, Dong Hyun Cha, Man Yong Han, Kyu Hyung Lee, Youn Ho Sheen
Clin Exp Pediatr. 2015;58(11):415-420.   Published online November 22, 2015
Purpose

Bronchopulmonary dysplasia (BPD) is characterized by inflammation with proteolytic damage to the lung extracellular matrix. The results from previous studies are inconsistent regarding the role of proteinases and antiproteinases in the development of BPD. The aim of the present study was to investigate whether matrix metalloproteinase (MMP)-8, MMP-9, tissue inhibitor of metalloproteinase (TIMP)-2, and TIMP-1 levels in the serum of...

Long-term outcome of patients with p22phox-deficient chronic granulomatous disease on Jeju Island, Korea
Hyun Sik Kang, Geol Hwang, Kyung-Sue Shin
Clin Exp Pediatr. 2015;58(4):129-135.   Published online April 22, 2015
Purpose

This study investigated the long-term clinical outcomes of patients with p22phox-deficient chronic granulomatous disease (CGD) on Jeju Island and retrospectively evaluated the effects of interferon-gamma (IFN-γ) prophylaxis.

Methods

The medical records of 15 patients with CGD were retrospectively reviewed. The efficacy of IFN-γ prophylaxis was evaluated by comparing the frequency of severe infections before and after starting continuous prophylaxis with IFN-γ.

Results

At the...

Molecular typing of uropathogenic Escherichia coli isolated from Korean children with urinary tract infection
Ki Wook Yun, Do Soo Kim, Wonyong Kim, In Seok Lim
Clin Exp Pediatr. 2015;58(1):20-27.   Published online January 31, 2015
Purpose

We investigated the molecular types of uropathogenic Escherichia coli (UPEC) by using conventional phylogrouping, multilocus sequence typing (MLST), and fimH genotyping.

Methods

Samples of patients younger than 18 years of age were collected from the Chung-Ang University Hospital over 2 years. Conventional phylogenetic grouping for UPEC strains was performed by polymerase chain reaction (PCR). Bacterial strain sequence types (STs) were classified on...

Associations of matrix metalloproteinase (MMP)-8, MMP-9, and their inhibitor, tissue inhibitor of metalloproteinase-1, with obesity-related biomarkers in apparently healthy adolescent boys
Youn Ho Shin, Ki Eun Kim, Yong-Jae Lee, Jae-Hwan Nam, Young Mi Hong, Hye-Jung Shin
Clin Exp Pediatr. 2014;57(12):526-532.   Published online December 31, 2014
Purpose

Matrix metalloproteinases (MMPs) have been implicated in atherosclerosis, and therefore, are considered risk factors for metabolic dysfunction in adults. However, there is little data on circulating levels of MMPs and tissue inhibitors of MMPs (TIMPs) with regard to obesity-related biomarkers in the general adolescent population. In the present study, we determined the associations of MMP-8, MMP-9, and TIMP-1 levels and...

Serum procalcitonin as a diagnostic marker of neonatal sepsis
In Ho Park, Seung Hyun Lee, Seung Taek Yu, Yeon Kyun Oh
Clin Exp Pediatr. 2014;57(10):451-456.   Published online October 31, 2014
Purpose

We evaluated serum procalcitonin (PCT) as a diagnostic marker of neonatal sepsis, and compared PCT levels with C-reactive protein (CRP) levels.

Methods

We retrospectively reviewed the medical records of 269 neonates with a suspected infection, admitted to Wonkwang University School of Medicine & Hospital between January 2011 and December 2012, for whom PCT and CRP values had been obtained. Neonates were categorized...

Predictive value of C-reactive protein in response to macrolides in children with macrolide-resistant Mycoplasma pneumoniae pneumonia
Young Ho Seo, Jang Su Kim, Sung Chul Seo, Won Hee Seo, Young Yoo, Dae Jin Song, Ji Tae Choung
Clin Exp Pediatr. 2014;57(4):186-192.   Published online April 30, 2014
Purpose

The prevalence of macrolide-resistant Mycoplasma pneumoniae (MRMP) has increased worldwide. The aim of this study was to estimate the proportion of MRMP in a tertiary hospital in Korea, and to find potential laboratory markers that could be used to predict the efficacy of macrolides in children with MRMP pneumonia.

Methods

A total of 95 patients with M. pneumoniae pneumonia were enrolled in...

Review Article
Genetic risk factors associated with respiratory distress syndrome
Heui Seung Jo
Clin Exp Pediatr. 2014;57(4):157-163.   Published online April 30, 2014

Respiratory distress syndrome (RDS) among preterm infants is typically due to a quantitative deficiency of pulmonary surfactant. Aside from the degree of prematurity, diverse environmental and genetic factors can affect the development of RDS. The variance of the risk of RDS in various races/ethnicities or monozygotic/dizygotic twins has suggested genetic influences on this disorder. So far, several specific mutations in...

Food protein-induced proctocolitis: Is this allergic disorder a reality or a phantom in neonates?
Jin-Bok Hwang, Jeana Hong
Clin Exp Pediatr. 2013;56(12):514-518.   Published online December 20, 2013

The etiology of small and fresh rectal bleeding in neonates who are not sick is usually unknown; the only known cause is food protein-induced proctocolitis (FPIPC). It has been recently reported that FPIPC is a rare cause of rectal bleeding in newborns, and most cases have been proved to be due to idiopathic neonatal transient colitis. A recommended strategy for...

Case Report
X-linked recessive myotubular myopathy with MTM1 mutations
Young-Mi Han, Kyoung-Ah Kwon, Yun-Jin Lee, Sang-Ook Nam, Kyung-Hee Park, Shin-Yun Byun, Gu-Hwan Kim, Han-Wook Yoo
Clin Exp Pediatr. 2013;56(3):139-142.   Published online March 18, 2013

X-linked recessive myotubular myopathy (XLMTM) is a severe congenital muscle disorder caused by mutations in the MTM1 gene and characterized by severe hypotonia and generalized muscle weakness in affected males. It is generally a fatal disorder during the neonatal period and early infancy. The diagnosis is based on typical histopathological findings on muscle biopsy, combined with suggestive clinical features. We...

A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth
Ju Sun Heo, Ka Young Choi, Se Hyoung Sohn, Curie Kim, Yoon Joo Kim, Seung Han Shin, Jae Myung Lee, Juyoung Lee, Jin A Sohn, Byung Chan Lim, Jin A Lee, Chang Won Choi, Ee-Kyung Kim, Han-Suk Kim, Beyong Il Kim, Jung-Hwan Choi
Clin Exp Pediatr. 2012;55(11):438-444.   Published online November 23, 2012

Mucolipidosis II (ML II) or inclusion cell disease (I-cell disease) is a rarely occurring autosomal recessive lysosomal enzyme-targeting disease. This disease is usually found to occur in individuals aged between 6 and 12 months, with a clinical phenotype resembling that of Hurler syndrome and radiological findings resembling those of dysostosis multiplex. However, we encountered a rare case of an infant...

Magnetic resonance imaging and spectroscopic analysis in 5 cases of Pelizaeus-Merzbacher disease: metabolic abnormalities as diagnostic tools
Eun Lee, Mi-Sun Yum, Hae-Won Choi, Han-Wook Yoo, Su Jeong You, Eun-Hye Lee, Tae-Sung Ko
Clin Exp Pediatr. 2012;55(10):397-402.   Published online October 29, 2012

Pelizaeus-Merzbacher disease (PMD) is a rare, X-linked recessive disorder characterized by dysmyelination in the central nervous system. PMD results from deletion, mutation, or duplication of the proteolipid protein gene (PLP1) located at Xq22, leading to the failure of axon myelination by oligodendrocytes in the central nervous system. PMD may be suspected when there are clinical manifestations such as nystagmus, developmental...

A case of cytomegalovirus-negative Ménétrier's disease with eosinophilia in a child
Keun Hyung Son, Jeong Ja Kwak, Jae Ock Park
Clin Exp Pediatr. 2012;55(8):293-296.   Published online August 23, 2012

Ménétrier's disease is a rare form of acquired gastropathy characterized by giant rugal folds in the stomach and protein-losing gastropathy. Children with Ménétrier's disease tend to follow a benign self-limited course with symptoms typically completely resolving within 2 to 10 weeks in contrast to the chronic course in adults. A 9-year-old girl presented with a history of gradually worsening abdominal...

Original Article
Correlation between glomerular filtration rate and urinary N acetyl-beta-D glucosaminidase in children with persistent proteinuria in chronic glomerular disease
Jeong Deok Hong, In Seok Lim
Clin Exp Pediatr. 2012;55(4):136-142.   Published online April 30, 2012
Purpose

Urinary excretion of N acetyl-beta-D glucosaminidase (NAG) and β2-microglobulin (β2-M) was increased in the presence of proximal tubular damage. Based on these urinary materials, we investigated the ability of expecting renal function in chronic glomerular diseases. In this study, we evaluated the relationship between glomerular filtration rate (GFR) urinary NAG, and urinary β2-M.

Methods

We evaluated 52 children with chronic kidney disease...

Comparison of the accuracy of neutrophil CD64 and C-reactive protein as a single test for the early detection of neonatal sepsis
Young Kwang Choo, Hyun-Seok Cho, In Bum Seo, Hyeon-Soo Lee
Clin Exp Pediatr. 2012;55(1):11-17.   Published online January 31, 2012
Purpose

Early identification of neonatal sepsis is a global issue because of limitations in diagnostic procedures. The objective of this study was to compare the diagnostic accuracy of neutrophil CD64 and C-reactive protein (CRP) as a single test for the early detection of neonatal sepsis.

Methods

A prospective study enrolled newborns with documented sepsis (n=11), clinical sepsis (n=12) and control newborns (n=14). CRP,...

Review Article
Complications of nephrotic syndrome
Se Jin Park, Jae Il Shin
Clin Exp Pediatr. 2011;54(8):322-328.   Published online August 31, 2011

Nephrotic syndrome (NS) is one of the most common glomerular diseases that affect children. Renal histology reveals the presence of minimal change nephrotic syndrome (MCNS) in more than 80% of these patients. Most patients with MCNS have favorable outcomes without complications. However, a few of these children have lesions of focal segmental glomerulosclerosis, suffer from severe and prolonged proteinuria, and...

Original Article
Apoptosis and upregulation of TNF-α and TRAIL receptor 1 (DR4) in the pathogenesis of food protein-induced enterocolitis syndrome
Jin-Bok Hwang, Sang Pyo Kim, Yu Na Kang, Seong-Ryong Lee, Seong-Il Suh, Taeg Kyu Kwon
Clin Exp Pediatr. 2010;53(4):525-531.   Published online April 15, 2010
Purpose : Expression levels of tumor necrosis factor (TNF)-α expression on the mucosa of the small intestine is increased in patients with villous atrophy in food protein-induced enterocolitis syndrome (FPIES). TNF-α has been reported to induce apoptotic cell death in the epithelial cells. We studied the TNF family and TNF-receptor family apoptosis on the duodenal mucosa to investigate their roles in the pathogenesis...
Clinical significance of matrix metalloproteinase 9 and tissue inhibitor of metalloproteinase 1 and 2 in Kawasaki disease
Ki Wook Yun, Sin Weon Sin, Jung Ju Lee, Soo Ahn Chae, In Seok Lim, Eung Sang Choi, Byoung Hoon Yoo, Mi-Kyung Lee
Clin Exp Pediatr. 2010;53(4):510-518.   Published online April 15, 2010
Purpose : Kawasaki disease (KD) is a systemic vasculitis, a leading cause of pediatric acquired heart disease. Histopathological findings of coronary artery lesion (CAL) in KD indicate destruction of the coronary artery wall with diffuse vasculitis. Matrix metalloproteinases (MMPs) and their endogenous tissue inhibitors (TIMPs) might play central roles in this process. Special attention to MMP-9 has recently been emerging....
Thrombotic thrombocytopenic purpura with decreased level of ADAMTS-13 activity and increased level of ADAMTS-13 inhibitor in an adolescent
Eun Mi Yang, Dong Kyun Han, Hee Jo Baek, Young Ok Kim, Myung Geun Shin, Hoon Kook, Tai Ju Hwang
Clin Exp Pediatr. 2010;53(3):428-431.   Published online March 15, 2010
Thrombotic thrombocytopenic purpura (TTP) is a thrombotic microangiopathy characterized by endothelial cell damage, resulting in microangiopathic hemolytic anemia, thrombocytopenia, and various degrees of neurological and renal impairment caused by microvascular thrombi. It is rare in children and frequently follows a fatal course. TTP is divided into 2 types: one is inherited and associated with ADAMTS-13 gene mutations and the other...
Influence of histologic chorioamnionitis and funisitis on the level of peripheral blood C-reactive protein at birth in preterm infants
Do-Hyun Kim, Heun Ji Lee, Hee Sup Kim, Byoung Hoon Yoo
Clin Exp Pediatr. 2010;53(1):33-40.   Published online January 15, 2010
Purpose : The objective of this study is to determine the change of C-reactive protein (CRP) levels in the peripheral blood of preterm infants at birth according to the stage of intrauterine inflammation. Methods : A total of 187 infants (<32 weeks of gestation) were divided into a “no histologic chorioamnionitis” [HCAM (-), n=85] group and a “histologic chorioamnionitis” [HCAM...
Outcome and risk factors of pediatric hemato-oncology patients admitted in pediatric intensive care unit
Bo Eun Kim, Eun Ju Ha, Keun Wook Bae, Seongguk Kim, Ho Joon Im, Jong Jin Seo, Seong Jong Park
Clin Exp Pediatr. 2009;52(10):1153-1160.   Published online October 15, 2009
Purpose : To evaluate the risk factors for mortality and prognostic factors in pediatric hemato-oncology patients admitted to the pediatric intensive care unit (PICU). Methods : We retrospectively reviewed the medical records of pediatric hemato-oncology patients admitted at the PICU of the Asan Medical Center between September 2005 and July 2008. Patients admitted at the PICU for perioperative or terminal...
Case Report
Postnatal cytomegalovirus infection in an extremely premature infant transmitted via breast milk: A case report
Ji Hye Kim, Eun-Jin Chung, Hyun Kyung Park, Soo Ji Moon, Su-Mi Choi, Sung Hee Oh
Clin Exp Pediatr. 2009;52(9):1053-1058.   Published online September 15, 2009
Cytomegalovirus (CMV) is one of the most commonly encountered viral pathogens in newborn infants and is found in 0.3-2.4% of all live births. It has been demonstrated that 40-96% of seropositive mothers shed the virus via their breast milk. Breast milk containing CMV can cause almost one-third of CMV infections occurring in infants. A case of postnatal CMV infection in...
Original Article
Catch up growth in children born small for gestational age by corrected growth curve
Myung Ki Jung, Ji Eun Song, Seung Yang, Il Tae Hwang, Hae Ran Lee
Clin Exp Pediatr. 2009;52(9):984-990.   Published online September 15, 2009

Purpose:Being small for gestational age (SGA) is a risk factor of short stature in children. Genetic background such as mid-parental height (MPH) is known to influence growth of children born SGA. We studied the relationship between growth of children born SGA and MPH and studied the effects of insulin-like growth factor (IGF-I) and insulin-like growth factor binding protein 3 (IGFBP-3)...
Effect of renin inhibition on an experimental glomerulonephritis - a preliminary report
Ju Hyung Kang, Jae Kyung Huh, Young Sook Lee, Ji Young Han, Il Soo Ha
Clin Exp Pediatr. 2009;52(8):938-943.   Published online August 15, 2009

Purpose:We performed this study in order to investigate the effect of direct renin inhibition on an experimental animal model with nephrotoxic serum nephritis and tried to give useful information for clinical research and renin inhibitor treatment. Methods:Thirty BALB/c 6-week-old male mice were divided into 4 groups: control group (CO, n=5), control-treatment group with aliskiren (CT, n=5), disease group (DO, n=10), and disease treatment...
Study on the diagnostic utility of serum levels of insulin-like growth Factor-I and insulin-like growth factor binding protein-3 in growth hormone deficiency
Geun Ha Chi, Jeong Nyeo Lee, Woo Yeong Chung
Clin Exp Pediatr. 2008;51(12):1329-1335.   Published online December 15, 2008
Purpose : This study aimed to determine the best cutoff line for insulin-like growth factor (IGF)-I and insulin-like growth factor binding protein (IGFBP)-3 to discriminate between growth hormone deficiency (GHD) patients and the control group. Methods : Two hundred thirty subjects with normal controls (129 boys and 101 girls, aged 7-15 years), 14 patients with complete GHD (12 boys and...
Case Report
A case of mixed connective tissue disease presenting initially with Raynaud`s phenomenon
Soo Young Kim, Young Seok Choi, Young Ok Kim, Young Jong Woo
Clin Exp Pediatr. 2008;51(8):886-891.   Published online August 15, 2008
Mixed connective tissue disease (MCTD) is characterized by diverse symptoms including rheumatoid arthritis, scleroderma, systemic lupus erythematosus, and dermatomyositis, associated with high titers of antibodies to extractable nuclear antigen (ENA), especially anti-ribonucleoprotein (anti-RNP) antibody. Since the first report of 25 cases with MCTD in adults, there have been only a few cases of MCTD reported in children. Here, we report...
Original Article
Effects of puromycin aminonucleoside on the cytoskeletal changes of glomerular epithelial cells
Jun Ho Lee, Tae Sun Ha
Clin Exp Pediatr. 2008;51(1):54-61.   Published online January 15, 2008
of microvilli, but also separated the intercellular gaps and linear ZO-1. PAN induced oxidative stresses in time and dose dependent manners and increases of intercellular permeability in anti-oxidants inhibitable manners. High concentration of PAN induced not only actin polymerization and disorganization, but also the conglomerulation and internal dislocation of α-actinin protein. The intensities of fluorescences of ZO-1 protein were diminished...
Serum levels of free insulin-like growth factor-I and clinical value in healthy children
Young Hee Chung, Woo Yeong Chung
Clin Exp Pediatr. 2008;51(1):47-53.   Published online January 15, 2008
Purpose : The serum levels of total insulin-like growth factor (IGF)-I and IGF binding protein (IGFBP)- 3 reflect endogenous growth hormone (GH) secretion in healthy children. Free form of IGF-I which is suggested to have more potent biological action than complex form of IGF-I. The aim of this study is to investigate the serum levels of free IGF-I and its...
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