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Case Report
A case of thanatophoric dysplasia type I with an R248C mutation in the FGFR3 gene
Eun Jung Noe, Han Wook Yoo, Kwang Nam Kim, So Yeon Lee
Clin Exp Pediatr. 2010;53(12):1022-1025.   Published online December 31, 2010

Thanatophoric dysplasia (TD) is a short-limb neonatal dwarfism syndrome that is usually lethal in the perinatal period. It is characterized by shortening of the limbs, severely small thorax, large head with a prominent forehead, macrocephaly, curved femur, and flattened vertebral bodies. These malformations result from the mutation in fibroblast growth factor receptor 3 (FGFR-3) gene which is located on the...

Original Article
Prevalence and risk factors of the metabolic syndrome in young adults with childhood-onset hypopituitary growth hormone deficiency
Han Hyuk Lim, Min Jae Kang, In Suk Yun, Young Ah Lee, Choong Ho Shin, Sei Won Yang
Clin Exp Pediatr. 2010;53(10):892-897.   Published online October 31, 2010
Purpose

This study evaluated the prevalence of the metabolic syndrome (MetS) and risk factors for metabolic derangement in young adults with childhood-onset hypopituitary growth hormone deficiency (ACOHGHD).

Methods

Thirty patients with ACOHGHD who were treated with hormone-replacement therapy, aged 18 to 29 years, who visited the Seoul National University Children's Hospital between September 2009 and February 2010 were enrolled. Height, weight, waist circumference,...

Effects of human growth hormone on gonadotropin-releasing hormone neurons in mice
Janardhan P. Bhattarai, Shin Hye Kim, Seong Kyu Han, Mi Jung Park
Clin Exp Pediatr. 2010;53(9):845-851.   Published online September 13, 2010
Purpose

Recombinant human growth hormone (rhGH) has been widely used to treat short stature. However, there are some concerns that growth hormone treatment may induce skeletal maturation and early onset of puberty. In this study, we investigated whether rhGH can directly affect the neuronal activities of of gonadotropin-releasing hormone (GnRH).

Methods

We performed brain slice gramicidin-perforated current clamp recording to examine the direct...

Case Report
A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the FGFR2 gene
Min Young Lee, Ga Won Jeon, Ji Mi Jung, Jong Beom Sin
Clin Exp Pediatr. 2010;53(7):774-777.   Published online July 31, 2010

Pfeiffer syndrome is a rare autosomal dominant disorder characterized by coronal craniosynostosis, brachycephaly, mid-facial hypoplasia, and broad and deviated thumbs and great toes. Pfeiffer syndrome occurs in approximately 1:100,000 live births. Clinical manifestations and molecular genetic testing are important to confirm the diagnosis. Mutations of the fibroblast growth factor receptor 1 (FGFR1) gene or FGFR2 gene can cause Pfeiffer syndrome....

Original Article
Final height of patients with congenital heart disease
Soon Ju Lee, Young Kuk Cho, Jae Sook Ma
Clin Exp Pediatr. 2010;53(2):203-209.   Published online February 15, 2010
Purpose : Growth impairment is usually observed in children with congenital heart disease (CHD). Studies on the final height and weight of this population are insufficient. Our aim was to evaluate the final height of children with CHD and to identify the relationship between CHD and growth. Methods : We recorded the values of final height and weights of 105 CHD...
Case Report
Perianastomotic ulceration presenting with long-term iron deficiency anemia and growth failure: A case report and review of the literature
Kyung Ji Kang, Eun Ha Kim, Eun Young Jung, Woo-Hyun Park, Yu-Na Kang, Ae Suk Kim, Jin-Bok Hwang
Clin Exp Pediatr. 2010;53(1):89-92.   Published online January 15, 2010
Perianastomotic ulceration (PAU) rarely occurs after small bowel resection in infancy. Since the understanding of its pathogenesis is incomplete, an effective method of treatment has not yet been discovered. We report the first case in Korea of a 10-year-old girl with chronic iron deficiency anemia (IDA) and growth failure who was diagnosed with PAU at colonoscopy. Seven years were required...
Original Article
Effect of GnRH analogue on the bone mineral density of precocious or early pubertal girls
Jeong Sook Lim, Heon-Seok Han
Clin Exp Pediatr. 2009;52(12):1370-1376.   Published online December 15, 2009
Purpose : Treatment of precocity with gonadotropin releasing hormone analogue (GnRHa) might theoretically exert a detrimental effect on the bone mass during pubertal development. We investigated the short-term changes in bone mineral density (BMD) during GnRHa treatment and the enhancement in the changes with the co-administration of GnRHa and human growth hormone (hGH). Methods : Forty girls with precocious or...
Economic evaluation of a weekly administration of a sustained-release injection of recombinant human growth hormone for the treatment of children with growth hormone deficiency
Hye-Young Kang, Duk Hee Kim, Sei-Won Yang, Yoon-Nam Kim, Miseon Kim
Clin Exp Pediatr. 2009;52(11):1249-1259.   Published online November 15, 2009
Purpose : From a societal perspective, we evaluated the cost-effectiveness of a novel sustained-release injection of recombinant human growth hormone (GH) administered on a weekly basis compared with that of the present daily GH injection for the treatment of children with GH deficiency. Methods : Health-related utility for GH therapy was measured based on the visual analogue scale. During July...
Review Article
Treatment of chronic kidney disease in children
Joo Hoon Lee
Clin Exp Pediatr. 2009;52(10):1061-1068.   Published online October 15, 2009
The treatment of pediatric patients with chronic renal disease comprises management of nutritional imbalance, fluid, electrolyte, and acid-base disturbances, mineral bone disease, anemia, hypertension, and growth retardation. The treatment also includes administration of appropriate renal replacement therapy, if required. Adequate dietary intake of carbohydrates, fats, and proteins and caloric intake must be encouraged in such patients to ensure proper growth...
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 angiotensin II inhibition on the epithelial to mesenchymal transition in developing rat kidney
Hyung Eun Yim, Kee Hwan Yoo, In Sun Bae, Young Sook Hong, Joo Won Lee
Clin Exp Pediatr. 2009;52(8):944-952.   Published online August 15, 2009

Purpose:To investigate the effects of angiotensin II inhibition on the epithelial to mesenchymal transition (EMT) in the developing kidney, we tested the expression of EMT markers and nestin in angiotensin converting enzyme (ACE) inhibitor-treated kidneys. Methods:Newborn rat pups were treated with enalapril (30 mg/kg/d) or a vehicle for 7 days. Immunohistochemistry for the expression of α-smooth muscle actin (SMA), E-cadherin, vimentin, and nestin were...
Growth responses to growth hormone therapy in children with attenuated growth who showed normal growth hormone response to stimulation tests
Jae Hyun Kim, Hey Rim Chung, Young Ah Lee, Sun Hee Lee, Ji Hyub Kim, Choong Ho Shin, Sei Won Yang
Clin Exp Pediatr. 2009;52(8):922-929.   Published online August 15, 2009

Purpose:The aim was to investigate the clinical characteristics and responses to growth hormone (GH) therapy in children with attenuated growth who showed normal GH responses to GH stimulation tests (GHST). Methods:The study included 39 patients with height velocity (HV) of less than 4 cm/yr and normal GHST results. Clinical characteristics of patients were analyzed retrospectively. Results:Eleven were born as small for gestational age (SGA)...
Expression of nitric oxide synthase isoforms and N-methyl-D-aspartate receptor subunits according to transforming growth factor-β1 administration after hypoxic-ischemic brain injury in neonatal rats
Hae Young Go, Eok Su Seo, Woo Taek Kim
Clin Exp Pediatr. 2009;52(5):594-602.   Published online May 15, 2009
Purpose : Transforming growth factor (TGF)-β1 reportedly increases neuronal survival by inhibiting the induction of inducible nitric oxide synthase (NOS) in astrocytes and protecting neurons after excitotoxic injury. However, the neuroprotective mechanism of TGF-β1 on hypoxic-ischemic (HI) brain injury in neonatal rats is not clear. The aim of this study was to determine whether TGF-β1 has neuroprotective effects via a...
Effect of growth hormone on neuronal death in hippocampal slice cultures of neonatal rats exposed to oxygen-glucose deprivation
Kyung Sik Hong, Jihui Kang, Myeung Ju Kim, Jeesuk Yu, Young Pyo Chang
Clin Exp Pediatr. 2009;52(5):588-593.   Published online May 15, 2009
Purpose : To investigate whether growth hormone (GH) has a protective effect on neurons in hippocampal slice cultures of neonatal rats exposed to oxygen-glucose deprivation (OGD). Methods : Cultured hippocampal slices of 7-day-old rats were exposed to OGD for 60 min. Then, the slices were immediately treated with three doses of GH (5, 50, or 500 µM) in media. The...
Analysis of cytosine adenine repeat polymorphism of the IGF-I promoter gene in children with idiopathic short stature
Jae Hoon Moon, Woo Yeong Chun
Clin Exp Pediatr. 2009;52(3):356-363.   Published online March 15, 2009
Purpose : A polymorphism in the IGF-I gene promoter region is known to be associated with serum IGF-I levels, birth weight, and body length, suggesting that IGF-I gene polymorphism might influence postnatal growth. The present study aimed to investigate the role of this polymorphic cytosine-adenine (CA) repeat of the IGF-I gene in children with idiopathic short stature. Methods : The...
Case Report
A case of mosaic ring chromosome 13 syndrome
Soo Young Kim, Soo Min O, Mi Jeong Kim, Eun Song Song, Young Ok Kim, Young Youn Choi, Young Jong Woo, Tai Ju Hwang
Clin Exp Pediatr. 2009;52(2):242-246.   Published online February 15, 2009
The clinical features of ring chromosome 13 include mental and growth retardation, CNS anomalies, facial dysmorphism, cardiac defects, genital malformations, limb anomalies, skeletal deformities and anal malformations. Although many cases of ring chromosome 13 have been reported worldwide, only 6 cases have been reported in Korea, and the latter cases were not mosaic but pure ring chromosome 13. Here we...
Original Article
Factors for persistent growth hormone deficiency in young adults with childhood onset growth hormone deficiency
Young Ah Lee, Hye Rim Chung, Se Min Lee, Jae Hyun Kim, Ji Hyun Kim, Sun Hee Lee, Choong Ho Shin, Sei Won Yang
Clin Exp Pediatr. 2009;52(2):227-233.   Published online February 15, 2009
Purpose : Growth hormone (GH) replacement after retesting is necessary because impairment of body composition and cardiovascular health has been more severe in adult patients with persistent GH deficiency (GHD) from childhood to adulthood. This study aimed to investigate the factors for persistent GHD and define a highly probable group of persistent GHD in young adults with childhood-onset GHD. Methods :...
Review Article
Growth and sex differentiation of children born small for gestational age
Se Young Kim
Clin Exp Pediatr. 2009;52(2):142-151.   Published online February 15, 2009
The incidence of small for gestational age (SGA) births is frequent, accounting for 2.3% to 8% of all live births. Several childhood and adult diseases are related to early postnatal growth and birth size, and 10% of children born SGA may have a short stature throughout postnatal life. Additionally, they may have abnormal growth hormone (GH)-insulin like growth factor axis,...
Original Article
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...
Prevalence and trends in obesity among Korean children and adolescents in 1997 and 2005
Kyungwon Oh, Myoung Jin Jang, Na Yeoun Lee, Jin Soo Moon, Chong Guk Lee, Myung Hwan Yoo, Young Taek Kim
Clin Exp Pediatr. 2008;51(9):950-955.   Published online September 15, 2008
Purpose : The objective of this study was to provide current estimates of the prevalence and examine trends of overweight and obesity in children and adolescents. Methods : Height and weight measurements from 183,159 (112,974 in 1997, 70,185 in 2005) children and adolescents aged 2 to 18 years were obtained via the 1997 and 2005 National Growth Survey. Obesity among...
Transforming growth factor-β promoted vascular endothelial growth factor release by human lung fibroblasts
Sang Uk Park, Joo Hwa Shin, Jae Won Shim, Deok Soo Kim, Hye Lim Jung, Moon Soo Park, Jung Yeon Shim
Clin Exp Pediatr. 2008;51(8):879-885.   Published online August 15, 2008
Purpose : The human lung fibroblast may act as an immunomodulatory cell by providing pro-inflammatory cytokines and chemokines, which are important in airway remodeling. Vascular endothelial growth factor (VEGF) induces mucosal edema and angiogenesis. Thymus and activation regulated chemokine (TARC) induces selective migration of T helper 2 cells. We investigated whether human lung fibroblasts produced VEGF and TARC, and the...
Effects and adverse-effects of growth hormone therapy in children with Prader-Willi syndrome: A two year study
Su Jin Kim, Joong Bum Cho, Min Jung Kwak, Eun Kyung Kwon, Kyung Hoon Paik, Dong-Kyu Jin
Clin Exp Pediatr. 2008;51(7):742-746.   Published online July 15, 2008
Purpose : The objective of this study was to evaluate the effects and adverse side-effects of growth hormone (GH) therapy in children with Prader-Willi syndrome (PWS). Methods : Forty-one patients who had been treated with GH for more than two years (24 boys and 17 girls, mean age 7.3?.3 years during treatment initiation) were enrolled for this study. Results : After...
Increased vascular endothelial growth factor in children with acute Mycoplasma pneumoniae pneumonia and wheezing
Young Seo, Byung Keun Yu, Yeon Joung Oh, Yoon Lee, Young Yoo, Ji Tae Choung, Young Yull Koh
Clin Exp Pediatr. 2008;51(5):487-491.   Published online May 15, 2008
Purpose : Although Mycoplasma pneumoniae (M. pneumoniae) infection can cause wheezing in non-asthmatic children, the mechanisms of this symptom remain unclear. Vascular endothelial growth factor (VEGF) is a major mediator of angiogenesis and vascular permeability, and is also known to be elevated in cases of chronic pulmonary disease such as asthma. We hypothesized that VEGF may increase in children with...
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...
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...
Review Article
The methodology for developing the 2007 Korean growth charts and blood pressure nomogram in Korean children and adolescents
Soon Young Lee, Youn Nam Kim, Yeon Ji Kang, Myoung-Jin Jang, Jinheum Kim, Jin Soo Moon, Chong Guk Lee, Kyungwon Oh, Young Taek Kim, Chung Mo Nam
Clin Exp Pediatr. 2008;51(1):26-32.   Published online January 15, 2008
Purpose : This study was to provide the methods of developing the growth charts and the blood pressure nomogram among Korean children and adolescents. Methods : The growth charts were developed based on the data from the national growth surveys for children and adolescents in 1998 and 2005. The percentile charts were developed through two stages. At the first stage, the...
Original Article
Influence of vascular endothelial growth factor (VEGF) and endostatin on coronary artery lesions in Kawasaki disease
Seon A Kim, Bum Suk Jung, Jong Seo Yoon, Ji Whan Han, Joon Sung Lee
Clin Exp Pediatr. 2007;50(12):1241-1246.   Published online December 15, 2007

Purpose: Recently, there has been several studies to clarify the pathogenesis of Kawasaki disease (KD) and the relations of VEGF and endostatin that act on vascular endothelial cells to the coronary artery complications. In this report, we measured serum levels of VEGF and endostatin in acute and subacute phases of KD to assess the change of these levels and the...
Clinical, endocrinological and radiological courses in patients who was initially diagnosed as idiopathic central diabetes insipidus
Seung Joon Chung, Seong Yong Lee, Choong Ho Shin, Sei Won Yang
Clin Exp Pediatr. 2007;50(11):1110-1115.   Published online November 15, 2007
Purpose : Idiopathic central diabetes insipidus (CDI) is defined in CDI patients without definite etiology. Some patients initially diagnosed as idiopathic CDI progressed to organic causes. We reviewed clinical, endocrinological, and radiological courses of 20 patients who was initially diagnosed as idiopathic CDI, to assess the predicting factors for progression to brain tumors. Methods : We reviewed the medical data and...
Clinical significance of serum vascular endothelial growth factor in Kawasaki disease
Ho Seok Lee, Sin Weon Yun, Young Soo Jung, Soo Ahn Chae, In Seok Lim, Dong Keun Lee, Eung Sang Choi, Byung Hoon Yoo, Mi Kyung Lee
Clin Exp Pediatr. 2007;50(10):995-1004.   Published online October 15, 2007
Purpose : Kawasaki disease is a systemic vasculitis, leading cause of pediatric acquired heart disease. Vascular endothelial growth factor (VEGF) has functions as vascular permeability factor, plays an important role in coronary artery lesion (CAL). We studied the clinical significance of serum VEGF in Kawasaki disease. Methods : Kawasaki group was 49 patients, and control group was 15 patients. Diagnosis followed...
Growth promoting effect of combined gonadotropin releasing hormone analogue and growth hormone therapy in early pubertal girls with predicted low adult heights
Eun-Jeong Hong, Heon-Seok Han
Clin Exp Pediatr. 2007;50(7):678-685.   Published online July 15, 2007
Purpose : Recent reports pointed out that gonadotropin releasing hormone analogue (GnRHa) therapy alone is not so promising for improving adult height in precocious puberty. So, that we studied the growth promoting effect of combined therapy with GnRHa and growth hormone (GH) in early pubertal girls. Methods : Twenty three early pubertal girls (9.73?.59 yr) with predicted adult heights (PAH) below...
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