• Search
  • Advanced Search

Search

  • HOME
  • Search
Case Report
Cytogenetic evaluation of a patient with ring chromosome 9 presenting failure to thrive and developmental delay
Yun Mi Park, Han Nae Nho, Sook Za Kim, Young Min Ahn
Clin Exp Pediatr. 2008;51(4):426-430.   Published online April 15, 2008
We report clinical, cytogenetic, and fluorescence in situ hybridization (FISH) studies of a patient with ring chromosome 9. She presented with failure to thrive, facial dysmorphysm and mild psychomotor development delay in the absence of major malformations. Peripheral blood karyotype of the patient was 46,XX,r(9)(p24q34). G-band analysis suggested no loss of material in the ring chromosomes. FISH analysis using the...
Original Article
Neuroprotective effects of geneticin (G418) via apoptosis in perinatal hypoxic-ischemic brain injury
Mi Ju, Hyun Ju Lee, Sun Ju Lee, Eo Su Seo, Hye Jin Park, Kye Yang Lee, Gyeong Hoon Lee, Eun Jin Choi, Jin Kyung Kim, Jong Won Lee, Hai Lee Chung, Woo Taek Kim
Clin Exp Pediatr. 2008;51(2):170-180.   Published online February 15, 2008
Purpose : Some antibiotics were known to exert neuroprotective effects in the animal model of hypoxic-ischemic (H-I) brain injury, but the mechanism is still unclear. A recent study reported that geneticin (G418), an aminoglycoside antibiotic, increased survival of human breast cancer cells by suppressing apoptosis. We investigated the neuroprotective effects of systemically administrated geneticin via anti-apoptosis following the H-I brain...
The optimal conditions to improve retrovirus-mediated transduction efficiency to NIH 3T3 cells
Jun Ah Lee, Kang-Min Lee, Hyun Jae Lee, Yun Jeong Lee, Dong Ho Kim, Jung Sub Lim, Kyung-Duk Park
Clin Exp Pediatr. 2007;50(10):1011-1017.   Published online October 15, 2007
Purpose : We tried to assess the optimal conditions to improve low transduction efficiency and their effect on target cells. Methods : Cultured NIH 3T3 cells were incubated with retroviral vectors bearing an enhanced green fluorescent protein (eGFP) gene. We varied the ratio of viral vectors to target cells (1:1-1:8) and the number of transfections (X1, X2), and compared transduction...
Chromosomal analyses of 4,500 cases of the peripheral blood : An experience in a single hospital for 25 years
Hye-Eun Seo, Ji Hye Lee, Ji Yoon Kim, Dong Ha Lee, Heung Kyo Lee, Kun Soo Lee
Clin Exp Pediatr. 2007;50(9):875-881.   Published online September 15, 2007
Purpose : Chromosome analysis is important in genetic study and genetic counseling. This study was performed to evaluate the type and incidence of chromosome abnormalities in a single hospital for 25 years. Methods : Chromosome analyses were performed on peripheral blood lymphocytes, obtained from 4,856 patients with suspected chromosomal aberrations, referred to cytogenetic laboratory in Department of Pediatrics, Kyungpook National...
Review Article
The etiologies of neonatal cholestasis
Jae Sung Ko, Jeong Kee Seo
Clin Exp Pediatr. 2007;50(9):835-840.   Published online September 15, 2007
Any infant noted to be jaundiced at 2 weeks of age should be evaluated for cholestasis with measurement of total and direct serum bilirubin. With the insight into the clinical phenotype and the genotypephenotype correlations, it is now possible to evaluate more precisely the neonate who presents with conjugated hyperbilirubinemia. Testing should be performed for the specific treatable causes of...
Hematopoietic stem cell transplantation : overview for general pediatrician
Tai Ju Hwang
Clin Exp Pediatr. 2007;50(7):613-621.   Published online July 15, 2007
Hematopoietic stem cell transplantation (HSCT) has expanded and evolved substantially in the last decades to treat various malignant and nonmalignant diseases. However, the conditioning regimen can lead to transplantation related death by major organ dysfunction, severe infection and bleeding. In the allogeneic setting, graft versus host disease may also develop, making post-transplant management complex. To overcome these problems, new stem...
Case Report
Identification of a de novo mutation (H435Y) in the THRB gene in a Korean patient with resistance to thyroid hormone
Jin Young Shin, Chang-Seok Ki, Jin Kyung Kim
Clin Exp Pediatr. 2007;50(6):576-579.   Published online June 15, 2007
The syndrome of resistance to thyroid hormone (RTH) is characterized by reduced tissue sensitivity to thyroid hormone (TH). In the majority of subjects, RTH is caused by mutations in the thyroid hormone receptor beta (TRβ) gene, located on the chromosome locus 3p24.3. RTH is inherited in an autosomal dominant manner. The clinical presentation of RTH is variable, but common features...
Original Article
Polymorphism in the promoter region of the plasminogen activator inhibitor-1 (PAI-1) gene in Kawasaki disease
Mi Young Han
Clin Exp Pediatr. 2007;50(6):570-575.   Published online June 15, 2007
Purpose : To demonstrate genetic background of pathogenesis of Kawasaki disease (KD), I examined the genetic polymorphism of plasminogen activator inhibitor-1 (PAI-1) in KD patients. Methods : PCR-RFLP of PAI- 1 promotor gene was analyzed in 56 KD patients admitted to Kyunghee University Hospital, Gachon Medical School Gil Hospital, and Eulji Hospital from March to August 2000 and 206 normal...
Review Article
Aplastic anemia
Hack Ki Kim
Clin Exp Pediatr. 2007;50(6):519-523.   Published online June 15, 2007
Aplastic anemia is a rare disease, which is characterized by pancytopenia and hypocellular bone marrow without infiltration of abnormal cells or fibrosis. The incidence in Asia is higher than in the West and new cases are diagnosed at a rate of 5.1 per million pediatric populations per year in Korea. The pathophysiology is understood roughly by defective hematopoiesis, impaired bone...
Case Report
A case of idiopathic renal hypouricemia
Moon Hee Han, Sang Uk Park, Deok-Soo Kim, Jae Won Shim, Jung Yeon Shim, Hye Lym Jung, Moon Soo Park
Clin Exp Pediatr. 2007;50(5):489-492.   Published online May 15, 2007
Idiopathic renal hypouricemia is a disorder characterized by impaired urate handling in the renal tubules. This disease usually produces no symptoms, but hematuria, uric acid nephrolithiasis or acute renal failure may develop. A defect in the SLC22A12 gene, which encodes the human urate transporter, is the known major cause of this disorder. We describe a 10-month-old boy with idiopathic renal...
Original Article
The immunogenicity and safety of three-component DTaP vaccine in Korean infants
Jin Han Kang, Jong Hyun Kim, Jung Hyun Lee, Soo Young Lee, Young Jin Hong, Chang Hwi Kim
Clin Exp Pediatr. 2007;50(4):355-362.   Published online April 15, 2007
Purpose : We conducted the study to evaluate the immunogenicity and safety of three component DTaP vaccine (Infanrix ) in a group of Korean healthy infants on a three-dose primary vaccination. And we compared the immunogenicity of this DTaP vaccine with two component DTaP vaccine which has been widely used in Korea. Methods : We enrolled one hundred fifty one healthy...
The relation between angiotensin converting enzyme (ACE) gene polymorphism and neonatal hyperbilirubinemia in Korea
Mi Yeoun Kim, Jae Myoung Lee, Ji Sook Kim, Eun Ryoung Kim, Hee Jae Lee, Seo Hyun Yoon, Joo Ho Chung
Clin Exp Pediatr. 2007;50(1):28-32.   Published online January 15, 2007
Purpose : Human angiotensin converting enzyme (ACE) gene shows an insertion/deletion polymorphism in 16 intron, and three genotypes are determined by whether a 287 bp fragment of the DNA is present or not; II, ID and DD genotype. DD genotype has been suggested as a risk factor of chronic nephrotic disease such as IgA nephropathy and diabetic nephropathy, various cardiovascular...
Analysis of cytosine adenine(CA) repeat polymorphism of the IGF-I gene and influence on serum IGF-I levels in healthy children and adolescents
Myung Jin Ko, Tae Gyu Hwang, Jeong Nye Lee, Woo Yeong Chung
Clin Exp Pediatr. 2006;49(12):1340-1347.   Published online December 15, 2006
Purpose : The aim of the present study was to investigate the role of polymorphic cytosine adenine (CA) repeat of the IGF-I gene in the age-related alterations of serum IGF-I levels in healthy children. Methods : Two hundred and forty three normal healthy children (136 boys; 107 girls) aged between 7 and 15 years were enrolled in the present study. The...
A study of neuropeptides related to headaches in children with meningeal irritation signs
Bo Gil Seo, Myung Hwan Yoo, Jae Won Shim, Jung Yeon Shim, Hye Lim Jung, Moon Soo Park, Deok-Soo Kim
Clin Exp Pediatr. 2006;49(5):533-538.   Published online May 15, 2006
Purpose : The headache, one of the symptoms of meningitis, is related to abrupt elevation of intracranial pressure(ICP) or stimulation of intracranial nociceptive structure. However, in cases of mild elevation of ICP or normal findings of cerebrospinal fluid(CSF) analysis, patients sometimes complain of headaches. Therefore, other pathways may contribute to the occurrence of headaches in aseptic meningitis or meningismus. We...
CMV antigenemia following pediatric hematopoietic stem cell transplantation : risk factors and outcomes
Eun-Young Cho, Young-Shil Park, Dae-Hyung Lee, Ji Kyoung Park, Sangrhim Choi, Sun Young Kim, Pil-Sang Jang, Dong-Gun Lee, Nak-Gyun Chung, Jong Hyun Kim, Dae-Chul Jeong, Bin Cho, Jae Gyun Hur, Jin Han Kang, Hack-Ki Kim
Clin Exp Pediatr. 2006;49(2):173-180.   Published online February 15, 2006
Purpose : Cytomegalovirus(CMV) infection still remains as a major cause of morbidity and mortality after stem cell transplantation. In this study, we analyzed the results of antigenemia-guided pre- emptive therapy among children with allogeneic hematopoietic stem cell transplantation to determine the incidence and risk factors associated with CMV antigenemia, and evaluated the efficacy of the CMV antigenemia based preemptive therapy....
1828G>A polymorphism of the UDP-glucuronosyltransferase gene (UGT1A1) for neonatal hyperbilirubinemia in Koreans
Ja Young Kim, Mi Yeoun Kim, Ji Sook Kim, Eun Ryoung Kim, Seo Hyun Yoon, Hee Jae Lee, Joo Ho Chung
Clin Exp Pediatr. 2006;49(1):34-39.   Published online January 15, 2006
Purpose : The incidence of neonatal hyperbilirubinemia is twice as high in East Asians as in Caucasians. However, its metabolic basis has not been clearly explained. The UDP-glucuronosyltransferase gene(UGT1A1) mutation was found to be a risk factor of neonatal hyperbilirubinemia. We studied whether neonatal hyperbilirubinemia is associated with the 1828G>A(rs 10929303) polymorphism of the UGT1A1 gene, which encodes for a...
A Cytogenetic Study in Patients with Sex Chromosome Abnormalities
Hyun Ji Seo, Ji Hye Lee, Heung Kyo Lee, Seung Hee Jung, Kun Soo Lee
Clin Exp Pediatr. 2005;48(12):1317-1323.   Published online December 15, 2005
Purpose : This study was performed to evaluate the recent frequency of karyotypes in different sex chromosome abnormalities and to evaluate the age and clinical manifestations at diagnosis. Methods : Peripheral blood leukocytes were obtained from subjects who were clinically suspected to have sex chromosome abnormalities and referred to the cytogenetic laboratory in the Department of Pediatrics, Kyungpook National University Hospital...
Tumor Necrosis Factor and Lymphotoxin-α Gene Polymorphism in Korean Children with Type 1 Diabetes
Jin Soon Suh, So Young Park, Min Ho Jung, Byung Kyu Suh, Tae Gyu Kim, Byung Churl Lee
Clin Exp Pediatr. 2005;48(8):871-876.   Published online August 15, 2005
Purpose : Recently, it was reported that tumor necrosis factor(TNF) and lymphotoxin-α(LT-α) gene regions might be a susceptible loci to type 1 diabetes in Japanese. The purpose of this study was to investigate the association of TNF and LT-α gene polymorphisms with disease susceptibility in Korean children with type 1 diabetes. Methods : Forty-nine Korean children with type 1 diabetes(29...
Medical Lecture Course
Endogenous Neurogenesis in Postnatal Brain
Yun Sil Chang
Clin Exp Pediatr. 2005;48(8):806-812.   Published online August 15, 2005
Repair mechanisms in the postnatal and mature central nervous system(CNS) have long been thought to be very limited. However recent works have shown that the mature CSN contains neural progenitors, precursors, and stem cells that are capable of generating new neurons, astrocytes, and oligodendrocytes especially in germinative areas such as the subventricular zone of the lateral ventricles, the dentate gyrus...
Original Article
Association of Leukotriene C4 Synthase Gene Polymorphism with Clinical Response to Montelukast in Childhood Asthma
Kyung-Sue Shin, Youn Woo Kim
Clin Exp Pediatr. 2005;48(7):766-771.   Published online July 15, 2005
목 적 : 류코트리엔 수용체 길항제는 천식의 병리 반응에 관여하는 cysteiny leukotriene의 생성과 작용을 억제하여 급성기 천식 증상의 치료와 천식 증상의 조절 요법에 사용할 수 있다. 본 연구에서는 소아 천식환자에서 cysteinyl leukotriene 생성에 관여하는 LTC4S 유전자 다형태와 류코트리엔 수용체 길항제인 montelukast의 임상적 효과를 조사하여 약물유전학적 연관성 유무를 알고자 하였다. 방 법 : 환자군은 경증 지속성 천식과 중등증 지속성 천식환자 161명을 대상으로...
Case Report
A Case of Wiskott-Aldrich Syndrome with Novel Mutation in Exon 2 of the WASP Gene
Hyuk Lee, Jung In Park, Sun Young Kim,, Kyeung Hee Moon, Ho Keun Yi, Pyoung Han Hwang
Clin Exp Pediatr. 2005;48(5):551-556.   Published online May 15, 2005
Wiskott-Aldrich syndrome(WAS) is an X-linked recessive immunodeficiency characterized by thrombocytopenia with small platelet volume, eczema, and recurrent infections, and is also characterized by increased incidence of auto immune diseases and malignancies. The phenotype observed in this syndrome is caused by mutation in the Wiskott-Aldrich syndrome protein(WASP) gene localized to the proximal short arm of the X chromosome and recently isolated...
Original Article
Gene Expression of Metalloproteinases, Tissue Inhibitors of Metalloproteinases and Cytokines in Adriamycin-induced Cardiomyopathy
Young Mi Hong
Clin Exp Pediatr. 2005;48(2):197-203.   Published online February 15, 2005
ity has been reported to occur in both clinical and experimental forms of dilated cardiomyopathy. There was no report about MMP in adriamycin(ADR)-induced cardiomyopathy. The purpose of this study was to investigate gene expression of MMP and tissue inhibitor of metalloproteinases(TIMP) in ADR-induced cardiomyopathy and clarify the relationship between MMP and cytokines. Methods : Male Sprague-Dawley rats were divided into two...
Allogeneic Hematopoietic Stem Cell Transplantation in Juvenile Myelomonocytic Leukemia
Keon Hee Yoo, Dong Kil You, Soo Hyun Lee, Ki Woong Sung, Eun Joo Cho, Hong Hoe Koo
Clin Exp Pediatr. 2005;48(2):178-185.   Published online February 15, 2005
Purpose : The purpose of this study was to evaluate the outcome of children with juvenile myelomonocytic leukemia(JMML) treated with allogeneic hematopoietic stem cell transplantation(allo- HSCT). Methods : Eleven JMML patients aged 8-39 months underwent allo-HSCT. The sources of grafts were unrelated donors(n=7), HLA-matched siblings(n=3) and an HLA 1-antigen mismatched familial donor. All patients had received chemotherapy ?13-cis-retinoic acid(CRA) before...
Case Report
A Case of Fetal Alcohol Syndrome with Persistent Pulmonary Hypertension of the Newborn
Jin-Ha Chang, Ran Namgung, Min-Soo Park, Kook In Park, Jin-Sung Lee, Chul Lee
Clin Exp Pediatr. 2004;47(11):1220-1224.   Published online November 15, 2004
Fetal alcohol syndrome can be suspected in infants born to mothers with a prenatal history of alcohol abuse if the child exhibits characteristic facial features, together with intrauterine growth retardation, multiple neurological abnormalities, and multiorgan defects. If only a few of the above criteria are satisfied, the term fetal alcohol effects is used. We experienced a neonate who presented with...
The VACTERL Association : Tracheal Stenosis, Tracheal Bronchus and Partial Pulmonary Agenesis, Instead of Tracheoesophageal Fistula
Ji Sook Park, Hae Young Lee, Jong Sil Lee, Ji Hyeon Seo, Jae Young Lim, Myong Bum Choi, Chan Hoo Park, Hyang Ok Woo, Hee Sang Youn
Clin Exp Pediatr. 2004;47(10):1119-1123.   Published online October 15, 2004
VACTERL association is a disease with multiple congenital anomalies of the vertebrae, anus, cardia, tracheoesophageal(TE) fistula, renal and limb. This disease is derived from VATER anomaly, accompanied by cardiac and limb anomalies. We experienced a case of a 1-day-old boy with anal atresia, who represented multiple anomalies during hospital course. The multiple anomalies were hemivertebra, anal atresia, complex heart disease(coarctation...
Medical Lecture Course
Factors Involved in Lung Development and Alveolarization
Min Soo Park
Clin Exp Pediatr. 2004;47(10):1031-1035.   Published online October 15, 2004
Lung development is a sum of processes that involve harmonized orchestration of expressions of various factors in time and space. The mastermind governing these phenomena is not known, but cumulative efforts so far have helped us gain some insights as to what are involved in and how complex the developmental process is. Beginning as primitive foregut, lungs undergo processes called...
Regulatory T Cells and Allogeneic Transplantation
Dae Chul Jeong
Clin Exp Pediatr. 2004;47(9):919-925.   Published online September 15, 2004
Allogeneic organ or hematopoietic stem cell transplantation(HSCT) is the treatment of choice for end-stage organ diseases or various hematologic disorders. The induction of alloantigen specific T cell tolerance and its maintenance are critical for preventing immune responses, including graft rejection or graft-versus-host disease(GVHD) in allogeneic transplantation. CD4＋ T cells are classified as immune functions : Th1 CD4＋ cells for cellular...
Original Article
The Tumor Suppressor Function of PTEN/MMAC1 through the Regulation of IGFs and IGFBPs
Ho Keun Yi, Dong Jin Hwang, Sun Young Kim, Dae Yeol Lee, Pyoung Han Hwang
Clin Exp Pediatr. 2004;47(8):884-891.   Published online August 15, 2004
Purpose : PTEN/MMAC1, a novel tumor suppressor gene, is mutated in a variety of advanced and metastatic cancers. It acts as a phosphatase, and thereby, regulates the PI-3 kinase/Akt pathway. In this study, we examined to evaluate the new function of anti-tumor effects of PTEN/MMAC1 through the regulation of the IGFs-IGFBPs in gastric cancer cells. Methods : PTEN/MMAC1 was expressed in...
Medical Lecture Course
Impact of Host Genetics on Susceptibility and Outcome of Viral Infections
Eun Hwa Choi
Clin Exp Pediatr. 2004;47(8):815-820.   Published online August 15, 2004
The generation of a draft sequence of the human genome has lead to an opportunity to characterize human diversity, including the differences in host response to numerous pathogens. Host responses upon exposure to a pathogen can determine the wide spectrum of illness from subclinical or mild to severe diseases. Host factors, particularly genetic backgrounds, influence the pathogenesis of infectious diseases....
Original Article
Diagnostic Approach of Wiskott-Aldrich Syndrome
Dong Jin Hwang, Jun Won Yang, Sun Young Kim, Ho Keun Yi, Dae Yeol Lee, Pyoung Han Hwang
Clin Exp Pediatr. 2004;47(7):726-734.   Published online July 15, 2004
Objective : A probable diagnosis of Wiskott-Aldrich syndrome(WAS) should be considered in any boy presenting with unusual bleeding, congenital thrombocytopenia and small platelets. The definitive diagnosis of WAS is usually made by the detection of WASP gene mutation or a decrease or absence of the WAS protein(WASP) in blood cells using molecular genetic analysis. However, these methods are too time-consuming...
  • PubMed Central
  • PubMed
  • Scopus
  • Directory of Open Access Journals (DOAJ)