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Case Report
Cerebro-oculo-facio-skeletal syndrome : A case report
So Hee Lee, Seong Jin Hong, Jung Hwa Lee, Soo Yun Oh, Sun Heum Kim, Duk Hwan Kho, Kyo Sun Kim
Clin Exp Pediatr. 2008;51(4):435-438.   Published online April 15, 2008
The Cerebro-oculo-facio-skeletal (COFS) syndrome is a rare autosomal recessive disorder characterized by multiple abnormalities that involve the brain, face, eyes, and extremities. COFS syndrome is regarded as a degenerative disorder of the brain and spinal cord caused by a mutation of the DNA repair genes. We report on an 8-month-old girl with COFS syndrome who exhibited growth and developmental delay,...
Original Article
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...
Therapeutic response of cyclosporine and outcome in steroid resistant nephrotic syndrome
Hyung Soon Choi, Joo Hoon Lee, Young Seo Park
Clin Exp Pediatr. 2008;51(3):293-298.   Published online March 15, 2008
Purpose : The aim of our study was to evaluate the therapeutic response to cyclosporine, time to remission and side effects in steroid resistant nephrotic syndrome (SRNS). Methods : This study included 22 children with idiopathic SRNS who were treated with cyclosporine between June 1989 and August 2006. Medical records were reviewed retrospectively. Results : The mean age of patients at diagnosis...
Discrimination between obstructive sleep apnea syndrome and primary snoring in children : comparison of clinical parameters and behavioral disturbance
Hyun-Joo Seo, Jae Suk Lee, Hong-Beom Shin, Eui-Joong Kim, Hyun-Joon Shim, Young-Min Ahn
Clin Exp Pediatr. 2008;51(3):267-275.   Published online March 15, 2008
Purpose : To determine whether primary snoring could be distinguished from obstructive sleep apnea syndrome (OSAS) by clinical evaluation and symptom scores. Methods : 56 snoring and 20 asymptomatic subjects were recruited and polysomnography was used to confirm that there were 39 OSAS, 17 primary snoring, and 20 control subjects. We evaluated the size of the childrens adenoids and tonsils....
Oxygenation index as a respiratory parameter of respiratory distress syndrome in preterm infants
Ji Hyun Jeon, Ran Namgung, Min Soo Park, Kook In Park, Chul Lee
Clin Exp Pediatr. 2008;51(2):145-149.   Published online February 15, 2008
Purpose : To examine whether changes of oxygenation index (OI) by postnatal age were different by the number of surfactant administration, and different between subgroups of survival and death. Methods : From January 2005 to June 2006, preterm infants (n=84) diagnosed as respiratory distress syndrome (RDS) and treated with surfactant and ventilator were included. They were divided into two groups: Group...
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...
Multiple extrarenal manifestations in hemolytic uremic syndrome: A case report
Eugene Kim, So-Young Kim
Clin Exp Pediatr. 2007;50(12):1261-1265.   Published online December 15, 2007
Extrarenal manifestations of hemolytic uremic syndrome (HUS) have increasingly been recognized and may be major determinants of mortality and morbidity. Although microthrombi are often found in the pulmonary and coronary circulation, apparent lung and cardiac involvement are clinically infrequent. We describe here a 10-month-old boy with HUS who developed pulmonary hemorrhage, acute respiratory distress syndrome and dilated cardiomyopathy. Complete renal...
The clinical manifestations, the short- and long-term outcomes of Bartter syndrome
Hye Won Park, Joo Hoon Lee, Young Seo Park
Clin Exp Pediatr. 2007;50(12):1231-1240.   Published online December 15, 2007
Purpose : Bartter syndrome is a renal tubular defect in electrolyte transport characterized by hypokalemia, metabolic alkalosis and other clinical signs and symptoms. The aims of this study were to analyze the clinical manifestations and the short- and long-term outcomes of Bartter syndrome. Methods : We retrospectively reviewed clinical history, laboratory finding of blood and urine, renal ultrasonography, and hearing...
Case Report
Costello syndrome: three sporadic cases
Ji Youn Kim, Mi Jeong Kim, Eun Song Song, Young Kuk Cho, Young Youn Choi, Jae Sook Ma
Clin Exp Pediatr. 2007;50(10):1024-1029.   Published online October 15, 2007
Costello syndrome (CS) is a rare multiple congenital abnormality syndrome characterized by a typical coarse face, developmental delay, psychomotor and growth retardation, neurologic abnormalities, cardiac and cutaneous anomalies, severe feeding difficulties with postnatal growth failure, and increased risk of tumors. Since Costello first described it in 1971 and again in 1977, over 100 cases have been reported worldwide. It was...
Original Article
Clinical observation of meconium aspiration syndrome and effect of suctioning through endotracheal intubation on prognosis of meconium aspiration syndrome
Yong Ho Yoon, Kyung Ah Kim, Sun Young Ko, Yeon Kyung Lee, Son Moon Shin
Clin Exp Pediatr. 2007;50(10):959-964.   Published online October 15, 2007
Purpose : The purpose was to investigate the clinical considerations of patients affected by meconium aspiration syndrome (MAS) and the effect of suctioning through endotracheal intubation immediately after delivery on the prognosis of MAS. Methods : A total of 44 inpatients diagnosed as MAS in the Neonatal Intensive Care Unit (NICU) at Cheil Hospital were selected from January 2004 to...
Review Article
Hemolytic uremic syndrome
Hye Won Park
Clin Exp Pediatr. 2007;50(10):931-937.   Published online October 15, 2007
The hemolytic uremic syndrome (HUS) is a rare disease of microangiopathic hemolytic anemia, low platelet count and renal impairment. HUS usually occurs in young children after hemorrhagic colitis by shigatoxin-producing enterohemorrhagic E. coli (D+HUS). HUS is the most common cause of acute renal failure in infants and young children, and is a substantial cause of acute mortality and morbidity; however,...
Case Report
A case of hepatopulmonary syndrome in a child with fatty liver disease secondary to hypopituitarism after craniopharyngioma resection
Sun Ju Im, Hyun Seok Park, Hyoung Doo Lee, Jae Hong Park, Hee Ju Park
Clin Exp Pediatr. 2007;50(8):794-798.   Published online August 15, 2007
Hepatopulmonary syndrome is a triad that includes: hepatic dysfunction, intrapulmonary vascular dilatation and abnormal arterial oxygenation. The incidence of intrapulmonary vascular dilatations, in adults with end-stage liver disease, has been reported to be 13% to 47%, however the incidence in children is unclear and the cases in Korean children have never been reported. The hepatopulmonary syndrome may occur as a...
Basal cell nevus syndrome (gorlin syndrome) confirmed by PTCH mutations and deletions
Hee Moon Kim, Chul Hee Lee, Sung Koo Kim, Tae Jung Sung
Clin Exp Pediatr. 2007;50(8):789-793.   Published online August 15, 2007
Basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, is a rare autosomal dominant disorder characterized by variable manifestations, including multiple basal cell carcinomas, odontogenic keratocysts of the jaw, skeletal anomalies including scoliosis and bifid ribs, palmar and plantar pits, calcification of the falx cerebri, and biparietal frontal bossing. We report a case of a 9-year-old boy with the...
A case of dapsone syndrome
Yoo Jong Won, Ok Lan Kim, Seung Taek Yu, Young Wook Yoon, Du Young Choi
Clin Exp Pediatr. 2007;50(5):493-496.   Published online May 15, 2007
Diamino-diphenyl-sulfone (Dapsone) is widely used in the treatment of leprosy and a variety of blistering skin diseases. It sometimes has adverse side effects with common usual doses, such as skin, nervous system, gastrointestinal tract, liver, kidney and hematologic toxicity. One of these side effects is a rare but serious hypersensitivity reaction called dapsone syndrome, which occurs several weeks after the...
Review Article
Pathophysiology and management of disorders in water metabolism
Dong Un Kim
Clin Exp Pediatr. 2007;50(5):430-435.   Published online May 15, 2007
Even though we drink and excrete water without recognition, the amount and the composition of body fluid remain constant everyday. Maintenance of a normal osmolality is under the control of water balance which is regulated by vasopressin despite sodium concentration is the dominant determinant of plasma osmolality. The increased plasma osmolality (hypernatremia) can be normalized by the concentration of urine,...
Case Report
Joubert syndrome with peripheral dysostosis - A case report of long term follow-up -
Jung Tae Kim, Sun Jun Kim, Chan-Uhng Joo, Soo Chul Cho, Dae-Youl Lee
Clin Exp Pediatr. 2007;50(3):315-318.   Published online March 15, 2007
This report describes the long-term follow-up of a 10-year-old female patient with Joubert syndrome with short stature and brachydactyly. She presented with hyperpnea alternated with hypopnea, uncontrolled jerking eye movements, and hypotonia during early infancy. She was diagnosed with Joubert syndrome based on clinical symptoms and typical MRI findings at 5 months of age. Abnormal ventilation and eye movements disappeared...
Original Article
Cord blood IL-10, IL-12 in preterm newborns as predictors of respiratory distress syndrome and bronchopulmonary dysplasia
Jee Yoon Park,, Ji Young Kim, Soo Jin Cho, Young Ju Kim, Hye sook Park, Eun Hee Ha, Eun Ae Park
Clin Exp Pediatr. 2007;50(3):248-254.   Published online March 15, 2007
Purpose : Inflammation plays a major role in the pathogenesis of RDS and BPD in the immature lung. We investigated the possible role of IL-10 and IL-12 in the cord blood of preterm newborns with RDS or BPD. Methods : Forty preterm newborns whose mothers received antenatal care at Ewha Womans University Mokdong Hospital between January 2003 to June 2005, and...
Clinical application of D-dimer in Kawasaki Disease
Jae Joon Han, Hong Ki Ko, Young Yoo, JungHwa Lee, Kwang Chul Lee, Chang Sung Son, Joo Won Lee
Clin Exp Pediatr. 2007;50(2):205-208.   Published online February 15, 2007
Department of Pediatrics, College of Medicine, Korea University, Seoul, Korea Purpose : Vascular endothelial cell damage and alteration of a fibrinolytic system was suggested to play a role in the development of coronary artery abnormalities in Kawasaki disease (KD). D-dimer is one of the markers of endothelial damage and fibrinolysis. We evaluated the clinical usefulness of D- dimer to differentiate KD...
The effects of high-dose intravenous immunoglobulin on plasma protein and lipid levels in the patients with Kawasaki disease
Keun Young Lee, Dong-Un Kim, Hyun Seung Lee, Pil Sang Jang, Young-Hoon Kim, Jin Tack Kim, Hyun Hee Kim, Kyung-Yil Lee, Joon-Sung Lee
Clin Exp Pediatr. 2006;49(12):1348-1353.   Published online December 15, 2006
Purpose : The reticuloendothelial system is composed of sinusoidal capillaries, through which even large protein molecules are freely movable between plasma and interstitial space, including the lymphatic system. Therefore, high-dose intravenous immunoglobulin (IVIG) would cause a redistribution of proteins between two compartments. To investigate this hypothesis, we measured plasma protein and lipid levels in patients with Kawasaki disease before and...
Short-term follow up of thyroid function after pediatric hematopoietic stem cell transplantation
Seon-Ju Lee, Jae-Wook Lee, Dae-Hyoung Lee, Young-Joo Kwon, Young-Shil Park, Hui Sung Hwang, Sun Young Kim, Ji Kyoung Park, Pil-Sang Jang, Min-Ho Jung, Nak-Gyun Chung, Dae-Chul Jeong, Bin Cho, Hack-Ki Kim, Byung-Churl Lee
Clin Exp Pediatr. 2006;49(11):1211-1215.   Published online November 15, 2006
Purpose : In this study, we analyzed the short term changes of thyroid function, incidence and risk factors of thyroid dysfunction soon after allogeneic hematopoietic stem cell transplantation (HSCT) in children. Methods : We enrolled 80 pediatric patients following allogeneic HSCT, at the Catholic HSCT center between January, 2004 and February, 2006. Serum TSH (thyroid stimulating hormone), total serum thyroxine and...
Modified Tei index in patients with Kawasaki disease by tissue doppler imaging
Hee Jung Kim, Jung Hwa Cha, Young Mi Hong
Clin Exp Pediatr. 2006;49(11):1202-1210.   Published online November 15, 2006
Purpose : A quantitative and easily measured Doppler index of combined systolic and diastolic ventricular myocardial performance (Tei index) was recently proposed as a potentially useful predictor of global myocardial performance. However, presence of heart rate fluctuation makes it unreliable. Therefore, the modified Tei index was introduced by using tissue Doppler imaging (TDI) which enables measuring contraction and relaxation velocities...
A case of hereditary pancreatitis with a N29I mutation in the cationic trypsinogen gene
Jee Youn Shin, You Jeong Kim, Jeong Kee Seo
Clin Exp Pediatr. 2006;49(10):1067-1072.   Published online October 15, 2006
Purpose : The purpose of this study was to examine the clinical courses and long-term outcomes of children with Allagille syndrome in Korea, and to evaluate the prognostic potentials of identified variables. Methods : We reviewed the clinical manifestations and outcomes of 30 children with Alagille syndrome, investigated from 1984 to 2006 until the end of this study (defined as death...
Case Report
Infliximab treatment for a patient with refractory Kawasaki disease
Hyo-Jung Yu, Soo-Jin Lee, Sejung Sohn
Clin Exp Pediatr. 2006;49(9):987-990.   Published online September 15, 2006
Intravenous immunoglobulin (IVIG) infusion is an effective therapy for acute Kawasaki disease (KD). Nonetheless, approximately 10 percent to 20 percent of patients have persistent or recrudescent fever despite IVIG treatment, leading to a higher risk for coronary artery aneurysms (CAA). This unresponsiveness may pose a challenge to the clinicians. Tumor necrosis factor-α levels are elevated in the acute phase of...
Review Article
Giant platelet syndrome
Hoon Kook
Clin Exp Pediatr. 2006;49(8):833-838.   Published online August 15, 2006
Giant platelet syndrome is a group of unique disorders characterized by the presence of abnormally large platelets, and usually accompanied by thrombocytopenia. Most cases of giant platelets are encountered in idiopathic thrombocytopenic purpura(ITP). In contrast, inherited giant platelet disorders, a group of heterogeneous diseases, are rare. Bernard-Soulier syndrome and its variants, and MYH9 related diseases have been defined at the...
Type 2 diabetes mellitus and metabolic syndrome
Jin Soon Hwang
Clin Exp Pediatr. 2006;49(7):710-717.   Published online July 15, 2006
Type 2 diabetes mellitus in children and adolescents has been increasing for last 10 years. The increase in frequency of type 2 diabetes appears to parallel the increase in prevalence and severity of obesity in children and adolescents. The metabolic syndrome, cluster of potent risk factors for atherosclerotic cardiovascular disease and type 2 diabetes, consists of insulin resistance, obesity, hypertension...
Current use of growth hormone in children
Choong Ho Shin
Clin Exp Pediatr. 2006;49(7):703-709.   Published online July 15, 2006
Since the advent of growth hormone(GH), children with a wide variety of growth disorders have received GH treatment. In GH deficiency(GHD), Turner syndrome, chronic renal failure, children born small for gestational age, Prader-Willi syndrome, and idiopathic short stature, the therapeutic effects and safety profile of GH are reviewed. GH therapy has been clearly shown to improve height velocity and final...
Case Report
A case of Tolosa-Hunt syndrome
Do Gyun Kim, Young Ok Kim, Young Jong Woo
Clin Exp Pediatr. 2006;49(6):696-699.   Published online June 15, 2006
소아에서 드물게 보고되는 토로사-헌트 증후군은 둔하면서 지속적인 안와 주위의 통증과 안구운동 장애 및 해면동 주위의 뇌신경 침범을 특징으로 하는 질환으로 비특이적 염증조직에 기인한 것으로 알려져 있다. 이는 자연 치유도 가능하나 대개 스테로이드가 증상의 회복에 효과적이며 신속한 호전을 유도한다. 토로사-헌트 증후군은 그 예후가 양호하다고 알려져 있으나 일부는 치료 후에 재발하기도 한다. 우리는 토로사-헌트 증후군으로 진단받고 스테로이드 치료 후 특별한 휴우증 없이...
Original Article
Serum high sensitivity C-reactive protein levels in obese middle school boys
Jae-Ho Jeong, Jae-Woo Lim, Eun-Jeong Cheon, Kyong-Og Ko, Young-Hyuk Lee
Clin Exp Pediatr. 2006;49(6):617-622.   Published online June 15, 2006
Purpose : High-Sensitivity C-reactive protein(hs-CRP) has been recognized as a very useful and sensitive predictor of the future risk of myocardial infarction. But the clinical significance of hs-CRP in children remains uncertain. To confirm the existence of obesity-induced vascular inflammation and the association between metabolic syndromes and elevation of CRP in children, we investigated the relationship among CRP, obesity, blood...
A survey of infant sleep positions associated with sudden infant death syndrome
Dong Jun Lee, So Ick Jang, Eun Jung Shim, Do Jun Cho, Dug Ha Kim, Ki Sik Min, Ki Yang Yoo
Clin Exp Pediatr. 2006;49(6):602-609.   Published online June 15, 2006
Purpose : As the prone position is thought to be an important factor in sudden infant death syndrome(SIDS), this study was conducted to contribute to reducing SIDS by analyzing sleeping positions of infants. Methods : A face-to-face questionnaire was carried out with a total of 170 parents with a baby aged less than 6 months. Results : A total of 170 infants...
Case Report
A case of Rothmund-Thomson syndrome
Seung Hyo Kim, Choong Ho Shin, Sei Won Yang
Clin Exp Pediatr. 2006;49(5):565-569.   Published online May 15, 2006
Rothmund-Thomson syndrome (RTS), is a rare autosomal recessive disorder, characterized by : skin photosensitivity, poikiloderma, sparse hair, sparse eyebrows/lashes, short stature, skeletal abnormalities, cataracts, and an increased risk of malignancy. Skeletal abnormalities include : dysplasia, absent or malformed bones, such as absent radii, osteopenia, and delayed bone formation. RTS is thought to result from chromosomal instability, and children with RTS...
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