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Original Article
A Catalogue of Gene Expression Difference in Biliary Cirrhosis due to Biliary Atresia Using Differential Expressed Sequence Tags(EST) Screening
Byung-Ho Choe, Hyun-Mi Lee, Moon-Kyu Kim, Jung-Chul Kim
Clin Exp Pediatr. 2000;43(1):60-69.   Published online January 15, 2000
Purpose : Extrahepatic biliary atresia is the most common indication for liver transplantation in children, but the etiology of this disorders remains unknown. It would be very signficant to identify genes that are specifically expressed in pathologic liver tissue of biliary atresia and analyze the pattern of expression in those genes. Methods : We made dot blot panels consisting of 1,730 different EST(expressed sequence...
Molecular Cloning and Characterization of ETV1 : a New Member of the ETS Family Transcription Factor that is Implicated in Ewing's sarcoma
In-sang Jeon, David N. Shapiro
Clin Exp Pediatr. 1999;42(6):833-843.   Published online June 15, 1999
Purpose : Ewing's sarcoma is characterized by accompanying specific chromosome translocations. In the present study, we report ETV1, the third member of the human ETS family that is implicated in Ewing's sarcoma by reciprocal translocation (7;22)(p22;q12). Methods : Primarily, cDNA library made from the Ewing's sarcoma cell line accompanying the t(7;22)(p22;q12) was screened using the 5' portion of EWS(including the...
MELAS Syndrome Confirmed by Mitochondrial DNA Analysis in Siblings
Young Ghil Rah, Soo Ahn Chae, In Suk Lim, Dong Keun Lee, Byoung Hun Yoo, Tae Sung Ko, Han Wook Yoo
Clin Exp Pediatr. 1999;42(3):412-418.   Published online March 15, 1999
MELAS(mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) syndrome is a major subgroup of mitochondrial myopathy. Recent advances in molecular genetics revealed specific mutations in mitochondrial DNA which cause MELAS. We described here clinical and molecular genetic findings of sister and brother with MELAS syndrome. For molecular genetic studies, DNAs from peripheral blood nucleated cells were used. And the substitution...
Case Report
A Case of FGFR2 Exon Ⅲc Mutation in Crouzon Syndrome
Seon Chan Bae, Eun Ha Lee, Moon Sung Park, Si Houn Hah, Chang Ho Hong
Clin Exp Pediatr. 1998;41(12):1717-1721.   Published online December 15, 1998
Crouzon syndrome, an autosomal dominant disorder, has characteristic features of craniosynostosis, hypertelorism, exophthalmos, maxillary hypoplasia and relative mandibular prognathism. Mutations of fibroblast growth factor receptor 2(FGFR2) gene are associated with craniosynostotic conditions, such as Crouzon syndrome, Jackson-Weiss syndrome, Pfeiffer syndrome, Apert syndrome and Beare-Stevenson cutis gyrata. We found one child with common morphological features of Crouzon syndrome. Interestingly, she...
A Case of Generalized Putular Psoriasis after Varicella Infection
Han Cheol Kim, Ran Lee, Jee Hae Kang, Gyu Young Jung, Jung Gee Lee, Mi Kyung Jee
Clin Exp Pediatr. 1998;41(11):1606-1609.   Published online November 15, 1998
Generalized pustular psoriasis is the most servere form of psoriasis. This disorder is characterized by pustular skin lesions general symptoms such as high fever, weakness and peripheral blood leukocytosis. We have experienced a case of generalized pustular psoriasis after suffering from chickenpox which was diagnosed by clinical symptoms and pathologic features from a skin biopsy. This 4-year-old male patient was...
Original Article
Interaction of the mec Regulator Genes in Methicillin Resistant Staphylococcus
Young Choi, In Seok Lim, Tae Sub Shim, Mi Kyung Lee, Ae Ja Park
Clin Exp Pediatr. 1998;41(9):1224-1233.   Published online September 15, 1998
Purpose : Low-affinity penicillin-binding protein PBP 2a encoded by mecA is closely related to methicillin resistance in staphylococci, and the expression of PBP 2a is controlled by regulator elements encoded by mecR1 and mecI. Deletion or mutation which occurred in mecI is considered to be associated with constitutive production of PBP 2a. We investigated the distribution of mec regulator genes...
Case Report
A Case of Congenital Nephrotic Syndrome due to Diffuse Mesangial Sclerosis
Jung-Jin Yu, Dong Kyu Jin, Hae Il Cheong, Hyun Soon Lee, Yong Choi
Clin Exp Pediatr. 1998;41(3):415-419.   Published online March 15, 1998
Diffuse mesangial sclerosis(DMS) is one of the underlying pathology of congenital and infantile nephrotic syndrome. Infants with DMS develop nephrotic syndrome before 2 years of age and progress to end stage renal disease within 3 years of age. The authors experienced a case of isolated DMS in a 4-month-old male infant who had nephrotic syndrome for 1 month. The diagnosis...
Original Article
Expression of Tumor Suppression Gene in Childhood Cancer
Ji Eun Lee, Myung Ik Lee, Chang Soo Park
Clin Exp Pediatr. 1998;41(3):383-389.   Published online March 15, 1998
Purpose : Childhood cancer is closely related to the mutation of tumor suppressor gene. The mutant gene may evoke congenital anomaly and development of cancer. The common solid tumors in childhood are Wilms' tumor, retinoblastoma and neuroblastoma. The cytogenetic study has been performed. The cytogentic study revealed structural abnormality of chromosome in Wilms' tumor and retinoblastoma. The oncogene and mutation...
Congenital Asymptomatic Cytomegalovirus Infection; A Comparison of Specific IgM Antibody Test and pp65 Antigenemia Assay
Jong Hyun Kim, Eun Ah Seo, Ji Hyang Lim, Sang Hee Park, Won Bae Lee, Kyong Su Lee, Sin Ho Jung
Clin Exp Pediatr. 1998;41(2):163-169.   Published online February 15, 1998
Purpose : It is increasingly important to diagnosis asymptomatic infections which make up a majority(90%) of congenital cytomegalovirus(CMV) infections and that they may have sequeles such as sensorineural hearing loss and mental retardation. Recently antigenemia assay has been developed by using monoclonal antibodies against early structural protein pp65 of CMV. This CMV antigenemia assay seems to be more quicker to...
Developmental mRNA Expression of Cellular Retinoic Acid Binding Protein I and Ⅱ in Rat
Young Yoo, Hyung Suk Kim, Chang Sung Son, Young Chang Tockgo, Young Hyuk Jeon
Clin Exp Pediatr. 1998;41(2):154-162.   Published online February 15, 1998
Purpose : Retinoic acid(RA) is well known as a potent teratogenic agent in both deficiency and excess. Cellular retinoic acid binding proteins(CRABPs) are involved in RA. We carried this study in order to determine the possible relations of CRABPs with RA-induced teratogenesis through observation of the expression patterns of CRABP Ⅰand Ⅱ in developing rats. Methods : 35S-labeled RNA probes were...
The Prevalence of A985G Mutation in Medium Chain Acyl-Coenzyme A Dehydrogenase(MCAD) Gene in Neonates Determined from Guthrie Card
Baeck Hee Lee, Hye Won Park, Moon Soo Park, Ho Jin Park, Yong Choi, Hae Il Cheong
Clin Exp Pediatr. 1997;40(12):1645-1650.   Published online December 15, 1997
Purpose : Medium chain acyl-CoA dehydrogenase(MCAD) deficiency is an autosomal recessive disoder of β oxidation of fatty acids and characterized by episodic hypoglycemia, vomiting, convulsion, encephalopathy, apnea, and sudden death related to fasting or infection resembling Reye syndrome or sudden infant death syndrome. In acute stage, mortality rate is very high and survivors have significant risk of developmental disability and chronic somatic illness. However,...
Case Report
A Case of Neuronal Heterotopia
Jeong Hae Joo, Eun Joo Seok, Min Jeong Kim, Son Sang Seo
Clin Exp Pediatr. 1997;40(8):1173-1177.   Published online August 15, 1997
Neuronal migrational disorders of the brain represent abnormalities in the formation of the neocortex caused by faulty migration of the subependymal neuroblasts. The neuroblasts normally migrate between the sixth and 15th gestational week and in doing so form the six-layered neocortex. When the migration does not occur in a normal fashion the resultant brain anomalies include lissencephaly, pachygyria, schizencephaly, hemimegalencephaly, heterotopia, and polymicrogyria. Neuronal heterotopia is...
Original Article
Seizure Types and EEG Findings of Juvenile Onset Idiopathic Generalized Epilepsy
Hyunmi Kim, Won Seop Kim, Jong Shin Kim, Kangho Cho, Ki Joong Kim, Yong Seung Hwang
Clin Exp Pediatr. 1997;40(7):991-998.   Published online July 15, 1997
Purpose : Juvenile myoclonic epilepsy, juvenile absence epilepsy, and epilepsy wth generalized tonic clonic seizure(GTCS) on awakening are the three syndromes of idiopathic generalized epilepsy of adolescent onset currently included in the classification of epilepsy syndromes of the International League Against Epilepsy(ILAE). Although they differ in their predominant seizure types, the syndromes share several seizure types. Also, there are no unique electrophysiologic or genetic markers....
Clinical Study of Symptoms and Various Anomalies of Patients with Joubert Syndrome
Hang Bo Jeong, Se Hee Hwang, Ki Joong Kim, Yong Seung Hwang, Seung Cheol Kim, In-One Kim
Clin Exp Pediatr. 1997;40(3):385-392.   Published online March 15, 1997
Purpose : Joubert syndrome is known tobean autosomal recessive disorder characterized by cerebellar vermian dysgenesis with many symptoms and variety of other malformations. We studied the relevant symptoms and various malformations of seven patients diagnosed as Joubert syndrome at our institution. Methods : Seven children with cerebellarvermian dysgenesis consistent with Joubert syndrome were included in ourstudy. Each child was diagnosed at the Seoul National University Children's...
Case Report
An Autopsy Case of Tracheal Agenesis Type 2
Hyun Joo Lee, Eun Ae Park, Seung Joo Lee, Mi Jeong Kim, Soon Hee Seong
Clin Exp Pediatr. 1996;39(12):1759-1762.   Published online December 15, 1996
Tracheal agenesis is the rare and uniformly lethal anomaly that presents with severe respiratory distress and aphonia after birth. In this anomaly, the trachea is usually absent and air is reaching the bronchi through a communication with the esophagus. The diagnosis should be suspected in a nowborn infant with respiratory distress whose intubation is difficult. We report an autopy case of tracheal...
Original Article
Diagnosis and Treatment of Fetal Cardiac Anomalies
Nam Su Kim, Myung Kul Yum, Hahng Lee, Sung Ro Jung, Jung Bae Yoo, Jae Ek Lee
Clin Exp Pediatr. 1996;39(10):1395-1404.   Published online October 15, 1996
Purpose : Fetal echocardiography is used for the prenatal diagnosis of congenital heart disease. Fetal echocardiography allows decisions to be made in advance where the fetal abnormality is not compatible with life after delivery or where early correction is required. Our fetal echocardiographic experience was analysed retrospectively to guide future clinical application. Methods : 138 mothers had fetal echocardiography from April 1992 to December...
Molecular Genetic Screening for the SRY(Sex Determining Region of the Y chromosme) Gene in Turner Syndrome Patients
Jung-Yeon Shim, Han-Wook Yoo
Clin Exp Pediatr. 1996;39(7):915-923.   Published online July 15, 1996
Purpose : Turner syndrome is among the most common cytogenetic abnormalities associated with X chromosome. In only 40-60% of Turner syndrome, 45,X monosomy is found and the high prenatal mortality of non-mosaic 45,X has led to the hypothesis that liveborn 45,X individuals may be cryptic mosaics. The presence of Y chromosome is significant because it predisposes affected individuals with Turner syndrome to gonadoblastoma formation....
Bacteriological Survey of beta-Hemolytic Streptococci from the Throats of Elementary School Children in Chinju -Compared with the Results of Children in Kangwon, Chungnam and Seoul-
Seon-Ju Kim, Kook-Young Maeng, Hyang-Im Lee, Yun-Kyong Cho, Hee-Sang Yun
Clin Exp Pediatr. 1996;39(2):238-245.   Published online February 15, 1996
Purpose : Throat culture for streptococcal pharyngitis is a gold standard to diagnose, but it may be misleading to interpret due to the carriers. The isolation rates of beta-hemolytic streptococci (BHS) and Streptococcus pyogenes in the school children in Chinju were investigated and compared with those of Kangwon, Chungnam and Seoul previously reported. Methods : Throat cultures were taken from the...
Use of Fluorescent in Situ Hybridization to Evaluate the Number of Chromosomes in Buccal Smear Cells in Normal Newborn Infants
Byoung Chan Lee, Jee Yeon Song, So Young Kim, Hyun Hee Kim, Seunghoon Han, Jong-In Byun, Wonbae Lee, Kyong Su Lee
Clin Exp Pediatr. 1995;38(11):1470-1475.   Published online November 15, 1995
Purpose : The diagnosis for chromosomal anomality has been made by obtaining cells in metaphase from peripheral blood and fresh tissue culture. But this method is difficult to perform because somewhat invasive and necessary time for cell culture and staining(48-72hr). Recently, the method to find numerical abnormalities in, autosome and sex chromosome of adult buccal mucosal smear by FISH was...
Case Report
A Case of Agenesis of the Right Lung Accompanied by Cleft Lip
Dong Joon Lee, Moon Soo Han, Won Bae Lee, Joon Sung Lee
Clin Exp Pediatr. 1995;38(2):252-256.   Published online February 15, 1995
This paper describes a case of agenesis of the right lung in a male neonate, who suffered respiratory difficulty. He was evaluated by plain X-ray, bronchography, lung perfusion scan, chest CT, and brain CT. After he died, autopsy was performed. The results revealed multiple anomalies which included cleft lip and palate, absence of left thumb and radius bone, hemivertebra between L1...
A Case of Late Infantile Batten's Disease
Kyung-Tae Whang, Jong-Wan Kim, Young-Hoon Kim, Seung-Yun Chung, In-Goo Lee, Je-Geun Chi
Clin Exp Pediatr. 1994;37(12):1745-1751.   Published online December 15, 1994
We experienced a case of late infantile Batten's disease in a 4-year-7-month-old boy who was admitted to child neurology service of Kangnam St. Mary's hospital for evaluation of progressive psychomotor deterioration. He was in quit normal state of development until 3 years of age when his mother first became concerned because he showed such emotional change as crying and fear. Since...
A Case of Severe Pituitary Dwarfism due to Agenesis of Anterior Pituitary Gland with Pituitary Stalk Transection
Myoung Ju Yoo, Dong Ki Han, Jeh Hoon Shin, In Jun Seul, Seung Ro Lee
Clin Exp Pediatr. 1994;37(9):1305-1311.   Published online September 15, 1994
We experienced one case of severe pituitary dwarfism in a 10 years old female girl. Magnetic resonance image(MRI) revealed transection of the pituitary stalk with the formation of high intensity ectopic posterior lobe located at the median eminence and agenesis of an anterior lobe of pituitary gland. The serum Growth Hormone(GH) response to clonidine and L-dopa revealed severe GH deficiency. The patient...
A Case of Anti-Neutrophil Cytoplasmic Antibodies (ANCA) Positive Wegener's Granulomatosis
Won Tae Kim, Woo Jeong Kim, Joon Sik Kim, Chin Moon Kang, Kwan Kyu Park
Clin Exp Pediatr. 1994;37(8):1175-1181.   Published online August 15, 1994
Wegener's granulomatosis is a disease of unknown etiology that is characterized by the clinicopathologic complex of necrotizing granulomatous vasculitis of the upper and lower respiratory tract, glomerulonephritis, and variable degrees of small vessel vasculitis. Recently Antineutrophil Cytoplasmic Antibody (ANCA) has been reported to be a highly specific test for the diagnosis of Wegener's granulomatosis. We have experienced a patient of Wegener's...
Original Article
Rapid Detection Test for Streptococcus pyogenes in Normal Carriers of Group A Beta-Hemolytic Streptococci
Sung Ho Cha, Seon Ju Kim
Clin Exp Pediatr. 1994;37(6):812-815.   Published online June 15, 1994
Streptococcus pyogenes has been regarded very importantly because of its severe sequelae, namely rheumatic fever and acute glomerulonephropathy. Rapid tests to identify this organism have been studied widely in developed countries in 1980s. We proceeded the rapid test(A Strept ADTM, Denka Seiken Co., Japan) of S. pyogenes on 141 children who were known to be carriers of this organism to...
The Change of Anti-HBs Titer after Hepatitis B Vaccination in Newborn According to Dosage and Time
Joon Young Lee, Yong Sik MIn, Chang hwi Kim, Sang Jhoo Lee
Clin Exp Pediatr. 1993;36(5):656-663.   Published online May 15, 1993
We studied anti-HBs titer, positive and effective rate in relation to dosages(5, 10) and time interval after third vaccination in 23 infants born to HBsAg negative mother. The babies were divided into two groups. In one group(n=12), 5 of Hepavax was administered intramusculary at 1 month, 2 months and 6 months age, in other group (n=11), 10 of Hepavax at...
Case Report
Three Cases of Listeria Infection in the Immunocompromised Children
Mee Ran Kim, Bo Young Yun, Hye Young Kang, Sung Hee Jang, Hoan Jong Lee, Yong Seung Hwang, Eui Chong Kim
Clin Exp Pediatr. 1992;35(10):1419-1426.   Published online October 15, 1992
Infection by Listeria monocytogenes, an uncommon pathogen in immunocompromised host, has been reported in neonates, pregnant women and adults with defective cell mediated immunity but not in children in Korea. It can cause sepsis, meningitis, abortion, premature labor, intrauterine fetal infection. etc. We have experienced L. monocytogenes sepsis and/or meningitis in three children under immunosuppresive therapy for lymphoma-leukemia, cytophagic histiocytic...
A Case of Unilateral Absence of Pulmonary Artery
Joon Ho Bang, Sang Nyen Kim, Jong In Byun, Won Bae Lee, Byung Churl Lee, Kyong Su Lee, Sung Hoon Cho
Clin Exp Pediatr. 1992;35(6):873-878.   Published online June 15, 1992
A Unilateral Absence of Pulmonary Artery(UAPA), which develops occasionally as one of the associated anomaly in congenital cardiovascular defect like as tetralogy of Fallot, is rare anomaly as an isolated congenital defect. We have recently experienced a case of UAPA in a 9 years old boy, which was diagnosed by perfusion scan, digital subtraction angiography. So we report this case...
A Case of Agenesis of the Right Lung with H-type Tracheoesophageal Fistula
Yong Seok Choi, Kyung Hee Kim, Young Chul Ahn, Baik Lin Eun, Kwang Je Beck
Clin Exp Pediatr. 1992;35(6):816-821.   Published online June 15, 1992
Agenesis of the lung is a developmental defect with complete absence or profound hypoplasia of one or both lung : absence of one lung is more common. Absence of both lung is very rare and is incompatible with life. Unilateral or bilateral agenesis of the lung often associated with the skeletal, cardiovascular, gastrointestinal and genitourinary anomalies. H-type tracheoesophageal fistula in...
A Case of Cloacal Deformity
Young Mi Jee, Seung Jin Lee, In Kyung Sung, Byung Churl Lee
Clin Exp Pediatr. 1992;35(5):667-670.   Published online May 15, 1992
We experienced a case of cloacal deformity. This one day-old female neonate had hydrometrocolpos with vaginal atresia, imperforated anus, cloaca associated with hemivertebrae, left renal agenesis and right hydronephrosis. A brief review of related literature was made.
A Case of Right Lung Agenesis
Seung Hyun Seo, Yu Sub Shin, Ki Sik Min, Jong Wan Kim, Kwang Nam Kim, Ki Yang Ryoo
Clin Exp Pediatr. 1992;35(3):428-433.   Published online March 15, 1992
Lung agenesis is the very rare disease which is defined as total absence of the pulmonary parenchyma, its vascular supporting structure, and bronchi beyond the carina. In many cases, there are coexisting anomalies involving the skeletal, cardiovascular, gastrointestinal, and genitourinary systems. Also, severe respiratory infections are common in infancy and may lead to pneumonia and death. When associated anomalies are...