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Case Report
Two cases of spinal muscular atrophy type 1 with extensive involvement of sensory nerves
Ran Lee, Sochung Chung, Sung-Eun Koh, In Kyu Lee, Jongmin Lee
Clin Exp Pediatr. 2008;51(12):1350-1354.   Published online December 15, 2008
Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by diffuse proximal and distal weakness due to deletion of the survival motor neuron (SMN) gene localized on chromosome 5 (5q11.2-13.3). SMA has been considered as a pure lower motor neuron disorder, and a definitive diagnosis can be established by molecular genetic testing. Here, we describe two patients with severe...
Review Article
Non-epileptic paroxysmal events during sleep - Differentiation from epileptic seizures -
In Kyu Lee
Clin Exp Pediatr. 2007;50(8):726-731.   Published online August 15, 2007
This review describes the wide spectrum of paroxysmal events during sleep in infancy and childhood. The differential diagnosis between sleep-related non-epileptic paroxysmal events and epileptic seizures is difficult in special occasions. The nocturnal frontal lobe seizure and of the more common non- epileptic paroxysmal events during sleep are described. The main differentiating features characterizing parasomnias are: onset in early...
Original Article
A clinical study of child bacterial meningitis in Daejeon and Chungcheong area : 2001-2005
Yong Joo Lee, Soo Jin Lee, Ho Jin Park, Young Hyuk Lee, So Young Kang, Young Chang Kim, In Kyu Lee, Kyung Yeon Lee, Keon Su Lee, Won Seop Kim
Clin Exp Pediatr. 2007;50(2):157-162.   Published online February 15, 2007
Purpose : The purpose of this study was to analyze the epidemiology, causative organism, clinical manifestation and prognosis of bacterial meningitis for children after the introduction of Haemophilus influenzae type b (Hib) vaccine in Daejeon and Chungcheong area. Methods : We analyzed retrospectively 53 medical records who had been diagnosed with bacterial meningitis at 10 general or university hospitals...
Human Surfactant Protein-A(SP-A) Gene Locus Associated with Mycoplasma pneumoniae Pneumonia in Korean Children
Seung Soo Kim, In Kyu Lee, Jung Ho Ko, Myung Ho Oh, Chong Woo Bae
Clin Exp Pediatr. 2005;48(4):376-379.   Published online April 15, 2005
Purpose : Mycoplasama pneumoniae is a leading cause of pneumonia and exacerbates other respiratory conditions such as asthma. Surfactant protein A(SP-A) is involved in surfactant physiology and surfactant structure, and plays a major role in innate host defense and inflammatory processes in the lung. In this study, SP-A mediated mycoplasma cidal activity. The candidate-gene approach was used to study the...
Assessment of Cardiac Function in Neonates by Using Tissue Doppler Imaging
Hee Chul Yoon, Jae Hoon Choe, Sun Young Kim, In Kyu Lee, Myung Ho Oh
Clin Exp Pediatr. 2004;47(9):959-964.   Published online September 15, 2004
Purpose : Tissue Doppler imaging(TDI) is recently being used for assessement of regional ventricular function in adults. However, data in neonates have not been established yet. The aim of this study is to establish reference values of TDI velocities and to investigate the effect of other factors on TDI velocites in the neonatal population. Methods : Forty eight healthy neonates with...
Association between the Human Surfactant Protein-A(SP-A) Gene Locus and Respiratory Distress Syndrome in Korean Neonates
Jae Hoon Choe, Myung Ho Oh, Jung Ho Ko, Sun Young Kim, In Kyu Lee, Chong Woo Bae
Clin Exp Pediatr. 2004;47(7):735-739.   Published online July 15, 2004
Purpose : Respiratory distress syndrome(RDS) is caused by a deficiency of pulmonary surfactant, which is a lipoprotein complex. Both low levels of surfactant protein A(SP-A) and SP-A alleles have been associated with RDS. However, the genes underlying susceptibility to RDS are insufficiently known. The candidate-gene approach was used to study the association between the SP-A gene locus and RDS in...
Case Report
A Case of 2-Methylbutyryl-CoA Dehydrogenase Deficiency
Moon Souk Lee, Ho Jin Park, In Kyu Lee, Kyuchul Choeh, Hye-Ran Yoon
Clin Exp Pediatr. 2004;47(1):100-105.   Published online January 15, 2004
We report a one-day-old Korean boy with 2-Methylbutyryl-CoA dehydrogenase(2-MBCDase) deficiency detected by urine organic acid and acylglycine analysis, plasma acylcarnitine analysis and confirmed by enzyme assay and Western blot. The patient was born at 35 weeks and three days with oligohydroamnios and premature rupture of membrane for 31 hours, as a second child of healthy non-consanguineous parents. There was no...
Original Article
Allele Distribution and Frequency of Human Surfactant Protein-A2 in Korean Neonates
Nyeon Cheon Kim, Hee Chul Yoon, Jung Su Suk, Jung Ho Ko, Ook Joon Yoo, In Kyu Lee, Myung Ho Oh, Chong Woo Bae
Clin Exp Pediatr. 2003;46(4):340-344.   Published online April 15, 2003
Purpose : We evaluated allele frequencies and distribution of surfactant protein A2(SP-A2) in Korean neonates in order to estimate the prevalence of RDS, to find out new SP-A alleles, and to establish new steroid therapy. Methods : Genomic DNA was extracted from 71 neonates and served as a template in PCR for genotype analysis. SP-A gene-specific amplications and gene-specific allele determinations...
Differential Response of Surfactant Protein-A Genetic Variants to Dexamethasone Treatment
Eul Soon Kim, In Kyu Lee, Myung Ho Oh, Chong Woo Bae
Clin Exp Pediatr. 2003;46(4):335-339.   Published online April 15, 2003
Purpose : Surfactant protein A(SP-A) is involved in surfactant physiology and structure, and plays a major role in innate host defense and inflammatory processes in the lung. Steroid therapy is widely used for mothers who threaten to deliver prematurely and also used commonly in the management of preterm infants with chronic lung disease. Two SP-A genes(SP-A1, SP-A2) and several alleles...
Allele Distribution and Frequency of Human Surfactant Protein-A1 in Korean Neonates
Kyung Shin Lee, Young Hee Kim, Jung Su Suk, Jung Ho Ko, Ook Joon Yoo, In Kyu Lee, Myung Ho Oh, Chong Woo Bae
Clin Exp Pediatr. 2002;45(12):1497-1502.   Published online December 15, 2002
Purpose : We evaluated allele frequencies and distribution of surfactant protein A1(SP-A1) in Korean neonates in order to estimate prevalence of RDS to find out new SP-A alleles, and to establish new steroid therapy. Methods : Genomic DNA was extracted from 100 neonates and served as a template in PCR for genotype analysis. SP-A gene-specific amplications and gene-specific allele determinations were...
Factors Related to the Outcome of Neonatal Seizures
Sung Koo Kim, Ran Lee, In Kyu Lee, Ki Joong Kim, Young Seung Hwang
Clin Exp Pediatr. 2000;43(2):267-273.   Published online February 15, 2000
Purpose : Seizures during the neonatal period may be an important indicator of serious neurologic abnormalities and can cause permanent neurologic sequelae. We attempted to find and analyze the factors related to the outcome of neonatal seizures. Methods : Seventy-six newborns with seizure were reviewed. The outcomes were analyzed according to etiologic diseases, gestational ages, characteristics of seizure, and neuroimaging and...
Case Report
A Case of Burkitt's Lymphoma with Bilateral Renal Enlargement
Jun Hee Park, In Kyu Lee, Jong Woon Choi, Soon Ki Kim, Byong Kwan Son, Jin Ju Kim
Clin Exp Pediatr. 1995;38(1):122-128.   Published online January 15, 1995
Burkitt's lymphoma is a distinct pathologic entity characterized as a diffuse undifferentiated malignant lymphoma of B-lymphocyte origin. We experienced a case of Burkitt's lymphoma with bilateral renal enlargement in which a 3 year-old male patient was admitted with complaints of abdominal distention and facial edema. Laboratory examination revealed positivity for CD 19, CD 10, CD 20 and c-myc on flow cytometry, bilateral...