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Case Report
A Case of Saldino-Noonan Type Short Rib-Polydactyly Syndrome
Hye Young Han, Gwang Hoon Lee, Eell Ryoo, Kang Ho Cho, Mi Jin Jung, Gil Hyun Kim, Hak Soo Lee, Hyuni Cho
Clin Exp Pediatr. 2000;43(4):578-582.   Published online April 15, 2000
Short rib-polydactyly syndrome(SRPS) is a rare type of skeletal dysplasia characterized by short limb dysplasia, thoracic hypoplasia, polydactyly and multiple visceral anomalies. It is transmitted as a autosomal recessive trait. There have been 4 classic types of SRPS, of which Saldino-Noonan type is the most common, and is characterized by very narrow thorax, short limb, postaxial polydactyly, striking metaphyseal dysplasia...
Original Article
Characterization of Molecular Defects in Korean Families with Inherited Ornithine Transcarbamylase Deficiency and Their Genotype-Phenotype Correlations
Han-Wook Yoo
Clin Exp Pediatr. 1999;42(7):900-910.   Published online July 15, 1999
Purpose : This study was undertaken to characterize molecular defects in Korean families with ornithine transcarbamylase(OTC) deficiency, correlate it with phenotype using in vitro expression study, and utilize it for making prenatal molecular diagnosis. Methods : To investigate molecular lesions resulting in OTC deficiency in 15 unrelated Korean families, the OTC genes of probands were amplified exon by exon and analyzed...
Immunogenicity of Haemophilus influenzae PRP-D Conjugate Vaccine in Korean Infants
Soo Young Choi, Hee Taek Kim, Yeon Woo Kim, Yun Jong Kang, Yeon Chung Chung, Jin Keun Chang, Hoan Jong Lee
Clin Exp Pediatr. 1999;42(6):771-777.   Published online June 15, 1999
Purpose : Infection by Haemophilus influenzae Type B(Hib) occurs most often in infants and children who are 5 years old and less. The incidence is highest around 6 months of age, and then decreases thereafter as infants gain natural immunity. Hi PRP-D conjugate vaccine is poorly immunogenic in infants. However, immunogenicity PRP-D vaccine in Korean infants is unknown. This...
Usefulness of Minimal Model Analysis : Measurement of Insulin Sensitivity, Glucose Effectiveness, and Insulin Secretory Capacity from Pancreatic Islet Cells in Children with Simple Obesity or Type 2 Diabetes Mellitus
Se Young Kim, Sei Won Yang
Clin Exp Pediatr. 1999;42(4):561-570.   Published online April 15, 1999
Purpose : It is known that insulin resistance and compensatory hyperinsulinemia from pancreatic islet cells to overcome insulin resistance could develop in children with simple obesity. When insulin resistance is aggravated by decompensation of high insulin secretion, obese children frequently progress to overt type 2 diabetes mellitus(DM). The purpose of the present study was to measure insulin sensitivity, glucose effectiveness,...
Prevalence and Identification of Rotaviruses in Stool Specimens of Patients with Acute Diarrhea from Several Regions of Korea
Dong Soo Kim, Beom Soo Park, Dong Hyuk Jung, Jae Moon Ahn, Chul Joong Kim, Shien Young Kang
Clin Exp Pediatr. 1999;42(4):501-509.   Published online April 15, 1999
Purposes : Rotaviruses are the main cause of infantile diarrheal diseases worldwide. The purpose of this study is to obtain epidemiologic data of rotavirus infections in Korea. Methods : Stool specimens were collected from 150 patients with acute diarrheal symptoms, who were admitted to Yonsei Medical Center and Chungbuk National University Hospital. After isolating the virus from the specimens, the viruses...
Clinical Significance of CD7 Expression in Acute Myelocytic Leukemia
Gye Jin Yoon, Pill Sang Jang, Young Choi, Jun A Lee, Hyo Jung Han, Hyoung Soo Choi, Hee Young Shin, Joong Gon Kim, Hyo Seop Ahn
Clin Exp Pediatr. 1999;42(3):374-382.   Published online March 15, 1999
Purpose : It has been shown that a considerable number of acute myeloid leukemia(AML) patients had both myeloid and lymphoid antigens. CD7 is a lymphoid antigen, often expressed in AML cells. We investigated 40 AML patients to clarify the relationship between the cellular characteristics and clinical features. Methods : We reviewed 8 CD7 positive(CD7+) AML patients and 32 CD7 negative(CD7-)...
A Clinical Study of Migraine and Tension-type Headache in Children
Sang-Soo Park, Nam-Cheol Cho, Gyue-Gun Hwang
Clin Exp Pediatr. 1999;42(3):364-373.   Published online March 15, 1999
Purpose : The purpose of this study is to help diagnosis migraine and tension-type headache in children with chronic recurrent headache by comparing clinical characteristics of migraine and tension-type headache Methods : We performed a clinical analysis of 89 children diagnosed as migraine and/or tension- type headache by using international headache society classification with the aid of Prenky’s criteria of migraine...
Case Report
A Case of Type Ⅱ Ehlers-Danlos Syndrome
Dong Hwan Oh, Jin Kuk Kim, Beuyng Do Nam, Ju Eun Lee, Je Hong Park
Clin Exp Pediatr. 1999;42(2):268-273.   Published online February 15, 1999
Ehlers-Danlos syndrome represents a group of inherited connective tissue disorders characterized by varying degrees of joint laxity, skin fragility and hyperextensibility, and a bleeding tendency. The essential defect is a quantitative deficiency of collagen. At present, 10 clinical forms have been recognized on the basis of extent and severity of the principal features, in combination with other abnormalities and the...
Original Article
Effects of Two Different Surfactants on RBC Membrane and Type Ⅱ Alveolar Epithelial Cell in Vitro
Eun Ae Park, Gyoung Hee Kim
Clin Exp Pediatr. 1999;42(1):32-39.   Published online January 15, 1999
Purpose : Respiratory distress syndrome(RDS) is a major cause of death in premature babies. For the treatment of RDS, various artificial pulmonary surfactants have been used. The incidence of pulmonary hemorrhage is increased in association with surfactant therapy in extremely low birth weight infants. But the pathogenesis of this increased incidence is not clear. So we conducted this study...
Case Report
A Case of Type 1 Gaucher Disease Treated with Enzyme Replacement
Jae-Bok Kim, Han-Wook Yoo
Clin Exp Pediatr. 1998;41(11):1590-1595.   Published online November 15, 1998
Type 1 Gaucher disease is one of the most common genetic lysosomal storage disease caused by the deficiency of glucocerobrosidase. Deficiency of this enzyme results in accumulation of glucoceramide in the macrophage and leads to hepatosplenomegaly, pancytopenia, bone damage and sometimes can be fatal. Recently, enzyme replacement has been considered as a major therapeutic strategy and about 2,000 patients have...
Erratum
A Case of Type I Autoimmune Hepatitis in Children
Soeng Hun Kim, Su Eun Park, Jeong Hwa Choi, Jae Hong Park, Su Yung Kim
Clin Exp Pediatr. 1998;41(7):979-983.   Published online July 15, 1998
Autoimmune hepatitis is an inflammatory liver disease characterized histologically by a dense mononuclaear cell infiltration of the portal tract, serologically by the presence of non-organ and liver specific autoantibodies and increased concentrations of IgG in the absence of a known etiology. Two types of autoimmune hepatitis are classified in the peripheral blood of antinuclear antibody and/or in antismooth muscle antibody(ANA/ASMA)...
Original Article
Type I Vitamin D Dependent Rickets
Soo Ja Hwang, Jung Soo Kim, Hae Il Cheong, Yong Choi
Clin Exp Pediatr. 1998;41(7):877-882.   Published online July 15, 1998
Purpose : Vitamin D dependent rickets(VDDR) is a rare, autosomal recessively transmitted disorder characterized by hypocalcemia, hypophosphatemia, increased alkaline phosphatase, secondary hyperparathyroidism and many other clinical features. Type Ⅰ VDDR arises from primary deficiency in the renal 1α-hydroxylase that produces 1,25(OH)2D3. So patients with type I VDDR require life long administration of vitamin D. Methods : There had been 6 children(4...
Case Report
A Case of Choledochal Cyst Type IVa Complicated by Multiple Choledocholithiasis and Recurrent Cholangitis : Therapeutic Endoscopic Retrograde Cholangiopancreatography and Endoscopic Nasobiliary Drainage
Yong Joo Kim, Eon Woo Shin, Soo Jung Choi, Ho Soon Choi, Jeh Hoon Shin
Clin Exp Pediatr. 1998;41(1):115-119.   Published online January 15, 1998
A 5-year-old male patient was admitted due to fever, and right upper abdominal pain for 2 weeks. He showed severe right upper quadrant tenderness on palpation, hepatomegaly 5 cm below the right costal margin, no mass, and no splenomegaly. On biochemical studies, ALT was 380IU/ml, AST 462IU/ml, alkaline phosphatase 1,069IU/ml, γGTP 239IU/ml, and total bilirubin 2.1mg/dl. Endoscopic retrograde cholangiopancreatography (ERCP) showed cylindrical dilatations of...
A Case of Type IV-4 Renal Tubular Acidosis
Young A Jo, Dong Un Kim, Yoon Kyung Lee, Byung Jun Choi, Jin Tack Kim, Ik Jun Lee
Clin Exp Pediatr. 1997;40(11):1603-1607.   Published online November 15, 1997
Type IV renal tubular acidosis(RTA) is due to renal tubular bicarbonate wasting associated with mineralocorticoid deficiency. In its five subtypes, IV-4 is due to pseudohypoaldosteronism(PHA) evidenced by increased plasma renin and aldosterone. PHA is believed to result from distal tubular unresponsiveness to circulating aldosterone and has normal renal and adrenal fuction. Hypoaldosteronism can easily be suspected when the patient shows typical electrolyte imbalance (hyponatremia coupled with...
Original Article
Immunophenotypic Analysis of Umbilical Cord Blood Stem Cells
Won Ho Kang, Tai Ju Hwang, Hoon Kook, Byung Ju Kim
Clin Exp Pediatr. 1997;40(11):1572-1581.   Published online November 15, 1997
Purpose : Since umbilical cord blood (UCB), which used to be discarded, was found to be a source of enriched hematopoietic stem and progenitor cells, basic research to elucidate characteristics of UCB hematopoietic stem cells (HSCs) and its clinical application to bedside transplantation have been attempted. Moreover, stem cell transplantation (SCT) has expanded its role, not only in hematopoietic reconstitution, but in cancer therapy,...
Case Report
A Case of Maple Syrup Urine Disease
Dong Hyun Cho, Hyun Mi Lee, Soon Young Kim, Chang Soo Ra
Clin Exp Pediatr. 1997;40(9):1297-1302.   Published online September 15, 1997
Original Article
Serum Lipids and Fatty Acids According to the Type of Feeding in Children
Kyung Hwan Oh, Jae Ock Park, Chang Hwi Kim, Sang Mann Shin
Clin Exp Pediatr. 1997;40(8):1098-1103.   Published online August 15, 1997
Purpose : Lipids and fatty acids are very important for brain and nervous system in growing children. This study was carried out to compare the composition of serum lipids and fatty acids according to the type of feeding in children. Methods : One hundred and twenty two children aged from 5 month to 24 month who visited Soonchunhyang University Hospital from Mar. 1995 to...
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....
Case Report
A Case of Peripheral Pulmonary Artery Aneurysm without Pulmonary Hypertension
Kyeung Hee Moon, Woo Suk Juhng, Chan Uhng Joo
Clin Exp Pediatr. 1997;40(2):284-287.   Published online February 15, 1997
Aneurysm of the pulmonary artery is a rare entity. Aneurysm of the peripheral artery are even less common. An 14-year-old girl was admitted for the evaluation of cardiac murmur. There was a variable grade 2/6 systolic murmur along the left sternal border. The chest x-ray showed a round mass in the right perihilar region. Echocardiogram demonstrated a small muscular ventricular septal defect with mild...
Original Article
Changes of Anti-H.influenzae Type b IgG in the Sera of Korean Infants and Children after Birt
Jong Man Park, Keoung Hie Moon, Kyung Mee Lee, Sun Jun Kim, Soo Chul Cho, Jung Soo Kim
Clin Exp Pediatr. 1997;40(2):181-188.   Published online February 15, 1997
Purpose : Most of invasive Haemophilus influenzae diseases occur in children under 5 years of age, and are due almost exclusively to type b strain. Although antibodies to several surface antigens of H.influenzae play a role in conferring immunity, antibody to the type b capsular polysaccharide appeared to have the most important protective functions. However, the antibody response to vaccines or natural...
Case Report
A Case of Pseudohypoparathyroidism TypeⅡ 1
Eun Young Kim, Dae Kjun Kim, Hong Jun Lee, Eun Kyung Jung, Young Bong Park
Clin Exp Pediatr. 1996;39(9):1326-1330.   Published online September 15, 1996
Pseudohypoparathyroidism is characterized by target cell resistance to the effects of parathyroid hormone and classified into various types depending on the phenotypic and biochemical findings. Pseudohypoparathyroidism type II differs from type I in that the urinary excretion of cAMP is elevated both in the basal state and after stimulation with PTH. We experienced a case of pseudohypoparathyroidism type II in 12year old man who...
Original Article
Evaluation of Chromosomal Analyses done on the Parents with Chromosomal Anomalous Children and Recurrent Abortion
Kyoung Sim Kim, Kibok Kim, Won Jin Kee
Clin Exp Pediatr. 1996;39(9):1216-1223.   Published online September 15, 1996
Purpose : To gather reference data for better genetic counseling, we have evaluated the outcomes of chromosomal analyses performed on the parents with chromosomal anomalous children and recurrent abortion in this hospital for the last 20 years. Methods : Subjected to study were 108 parents (50 fathers & 58 mothers) who had children with Down syndrome, other chromosomal and congenital anomalies, and those who...
Case Report
Acute Tyrosinemia Type 1 in a 5 Month Old Korean Boy
Si Houn Hahn, Ki Soo Pai, Ki Bum Lee, Kwang Hwa Park, Ok Hwa Kim, Chang Ho Hong, Baek Lin Eun, Seiji Yamaguchi
Clin Exp Pediatr. 1996;39(6):866-872.   Published online June 15, 1996
Tyrosinemia type 1 is an autosomal recessive disorder caused by deficiency of the enzyme fumarylacetoacetate hydrolase(FAH). The disease is characterized by hepatic dysfuntion, hepatocellular carcinomas, renal tubular dysfunction, rickets, and neurologic crises. Two forms of the disease, acute and chronic, are thought to be from the residual enzyme activity in the liver. The diagnosis of the tyrosinemia type 1 is suggested by...
Acanthosis Nigricans and TypeII Diabetes in Childhood
In Na Jeong, Hyung Ro Moon
Clin Exp Pediatr. 1996;39(3):404-410.   Published online March 15, 1996
The authors report two cases of type II diabetes with and without a acanthosis nigricans in children and a case of obese child with acanthosis nigricans encountered at Seoul Eul Ji Hospital in 1994 with review of literatures on relationship of obesity, acanthosis nigricans and type II diabetes. In case 1, 14-year old girl, BMI was 24 (weight, 63.5Kg ; height,...
Original Article
Cytogenetic Analysis of Chorionic Villi of 240 Spontaneous Abortions
S. J. Kim, S. H. Lee, K. S. Cha, S. H. Park
Clin Exp Pediatr. 1995;38(12):1610-1619.   Published online December 15, 1995
Purpose : Chromosomal abnormality is one of the major causes of spontaneous abortion, especially in abortion of first trismester. To detect the incidence and kinds of chromosomal abnormalities, we analyzed karyotypes of 240 cases of spontaneous abortus. Methods : We analyzed karyotypes of 240 cultured chorionic villi of products of conceptus from pregnant women with spontaneous abortions visiting CHA general hospital...
Case Report
A case of Neurologic Sequelae and a Case of Peripheral Gangrene of Extremities Associated with Haemophilus influenzae Type b Meningitis
Clin Exp Pediatr. 1995;38(10):1429.   Published online October 15, 1995
Haemophilus influenzae type b(Hib) is one of the most common organisms causing bacterial meningitis in children aged between 2 months and 6 years. Since introduction of Hib vaccination, the mortality from Hib meningitis has fallen, but major neurologic sequelae, ie, mental retardation, seizure, blindness, and persistent motor deficits, are serious problems. Cerebral infarction was rarely complicated during the course of meninigitis...
Original Article
Natural Anti-PRP Antibody Levels to Haemophilus Influenzae Type b(Hib) and Changes of Antibody Levels after Three Doses of Vacination
Eun Sun Yoo, Eun Ae Park, Gyoung Hee Kim
Clin Exp Pediatr. 1995;38(9):1201-1209.   Published online September 15, 1995
Purpose : The Haemophilus influenzae type b(Hib) was the most common cause of meningitis and invasive bacterial disease mainly in children 2 months to 5 years old in the United States. The conjugated Hib vaccines have recently been licensed by the US Food and Drug Administration for routine use in infants beginning at 2 months of age, and the Infectious...
Case Report
A Case of the Non-rhizomelic Chondrodysplasia Punctata
Son Ill Jin, Kyung Rye Moon, Sang Kee Park, Young Bong Park, Young Suk Kim
Clin Exp Pediatr. 1995;38(7):1000-1005.   Published online July 15, 1995
Chondrodysplasia punctata is a rare congenital disorder of bone, which is characterized by radiographic manifestation of punctate calcification in epiphyseal areas, preformed in cartilage. We experienced a case of the non-rhizomelic chondrodysplasia punctata in a male neonate who showed cataract, saddle nose, stippled calcification on X-ray without coronal cleft of verte-brae and rhizomelia.
Laryngotracheoesophageal Cleft Type III A Report of 1 Case
Myung Su Lee, Young Eun Lee, Eun Ae Park, Gyoung Hee Kim, Eun Chul Chung, Hac Soo Gyu
Clin Exp Pediatr. 1995;38(5):719-724.   Published online May 15, 1995
Laryngotracheoesophageal cleft is rare congenital anomaly due to failure of fusion of the e sophagus and the larynx. We experienced 1 case of larygotracheoesophageal cleft type III in neonate which was confirmed by autopsy. One day of age male newborn infant with grunting, retraction, and copious secretion canofirm diagnosis as laryngotracheoesophageal cleft type Ill by several radiographic studies and sutopsy. Brief review and...
Original Article
A Clinical Study on Pauciarticular Juvenile Rheumatoid Arthritis(JRA)
Youn Soon Hahn, Jeoong Gon Kim
Clin Exp Pediatr. 1995;38(3):386-396.   Published online March 15, 1995
Purpose : The purpose of this study was to analyse clinical and laboratory patterns in patients in Korea with juvenile Rheumatoid Arthritis(JRA), pauciarticular type and to know the characteristics of pauciarticular JRA in Korea. Methods : Twenty-three cases of pauciarticular juvenile rheumatoid arthritis(JRA) who were diagnosed in the department of Pediatrics, Seoul National University hospital (from june 1988 to May 1994)...


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