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Original Article
Clinical Findings of Genotypes in Korean Patients with Glycogen Storage Disease Type Ia
Jae Sung Ko, Hye Ran Yang, Jong Won Kim, Jeong Kee Seo
Clin Exp Pediatr. 2005;48(8):877-880.   Published online August 15, 2005
Purpose : Glycogen storage disease type Ia(GSD Ia) is an autosomal recessive disorder caused by the deficiency of glucose-6-phosphatase(G6Pase). The aim of the study was to investigate the spectrum of G6Pase gene mutations and relationship between genotype and clinical findings in Korean patients with GSD Ia. Methods : Genomic DNA was extracted from peripheral leukocytes of 20 patients with GSD...
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...
Etiology and Clinical Features of Viral Lower-respiratory Tract Infections in Children in Winter, 2003
Byung Ho Yun, Hee Chul Lee, Jung Mi Chun, So Young Yoon, Woo Gill Lee, Son Moon Shin
Clin Exp Pediatr. 2005;48(7):723-730.   Published online July 15, 2005
Purpose : This study was performed to characterize the etiology and clinical features of acute viral lower-respiratory tract infections(LRI). Methods : Etiologic agents and clinical features of acute viral LRI were studied from October. 2003 through March. 2004 in hospitalized children with LRI(253 cases) at Samsung Cheil Hospital. The viruses were identified by indirect immunofluorescent method. Medical records of patients with...
Human Leukocyte Antigen(HLA) Genotypes and Thyroid Autoimmunity in Korean Patients with Type 1 Diabetes
So Young Kang, Chung Ho Shin, Sei Won Yang, Myoung Hee Park, Jeesuk Yu
Clin Exp Pediatr. 2005;48(6):624-633.   Published online June 15, 2005
Purpose : This study analyzed the expression of HLA-DR and DQ genotypes and anti-thyroid autoantibodies[anti-thyroid peroxidase(TPO) and anti-thyroglobulin(TG) antibodies] in Korean patients with type 1 diabetes(T1DM) to investigate the susceptible HLA alleles to T1DM in Korea and the prevalence of thyroid autoantibodies and their significance for the development of thyroid disorders. Methods : A total of 59 Korean patients with type...
Functional Immunity to Cross-Reactive Serotype 6A Induced by Serotype 6B in Pneumococcal Polysaccharide Vaccine
Kyung Hyo Kim
Clin Exp Pediatr. 2005;48(5):506-511.   Published online May 15, 2005
Purpose : Streptococcus pneumoniae serotype 6B and 6A are important pathogens in pneumococcal infections. It is commonly assumed that the 6B vaccines elicit antibodies cross-reacting with the 6A serotype and the cross-reactive antibodies protect against infections of 6A. To examine this assumption, we measured the opsonophagocytic capacity to serotype 6A and 6B in adults. Methods : Twenty-four adults were immunized...
Difference in the Transcriptional Activity of the Interleukin-4 Promoter Haplotypes
Eun Hwa Choi, Hee Sup Kim, Stephen J. Chanock, Hoan Jong Lee
Clin Exp Pediatr. 2005;48(5):495-499.   Published online May 15, 2005
Purpose : Interleukin-4(IL-4) is a critical component of the Th2 cytokine pathway and contributes to severity of respiratory syncytial virus(RSV) bronchiolitis. Previous studies observed an association between severe RSV bronchiolitis in Korean children with a common haplotype of the IL4 promoter. This study was performed to investigate functional differences of the variant IL4 promoter haplotypes. Methods : Genomic DNA was obtained...
Clinical Characteristics of Autoimmune Thyroid Disease Developed in Patients with Type 1 Diabetes Mellitus
Se Min Lee, Hye Rim Chung, Su Young Hong, Choong Ho Shin, Sei Won Yang
Clin Exp Pediatr. 2005;48(3):292-297.   Published online March 15, 2005
Purpose : It is known that 3-50 percent of type 1 diabetes mellitus(T1DM) patients develop autoimmune thyroid disease. We analyzed the clinical characteristics of autoimmune thyroid disease(AITD) developed in patients with T1DM in Korean. Methods : The medical records of 139 patients, who were followed up in Department of Pediatrics, Seoul National University Children's Hospital from Jan. 1981 to Jul. 2004,...
Case Report
A Case of Moyamoya Disease with Neurofibromatosis Type I
Mi A Lee, Joo Pil Eum, Hae Young Lee, Byung Ho Cha
Clin Exp Pediatr. 2005;48(1):93-96.   Published online January 15, 2005
Neurofibromatosis type I is an autosomal dominant disorder with varied manifestations in bone, soft tissue, the nervous system and skin. This is characterized by cafe-au-lait spots, neurofibromas, Lisch nodules, optic glioma, bony displasia, and intertriginous freckling. One of the more serious aspect of the disease relates to the arterial involvement. Vascular changes in neurofibromatosis may occur in any arterial tree...
Original Article
Bronchial Hyperresponsiveness and Atopy in 6-8 Year Old Children According to the History of Wheezing in Early Childhood
Jinho Yu, Young Yoo, Hee Kang, Young Yull Koh
Clin Exp Pediatr. 2004;47(8):873-878.   Published online August 15, 2004
Purpose : It is becoming generally recognized that wheezing in early childhood is a heterogeneous condition and does not always develop into asthma. This study aimed to determine characteristics of wheezing phenotypes in early childhood and investigate their relation to asthma. Methods : Two hundreds and sixty 6-8 year old children with past or present wheezeing were enrolled, and their history...
The Prevalence of Maturity Onset Diabetes of the Young(MODY) 3 in Children with Type 2 Diabetes Mellitus
In Kyoung Choi, Duk Hee Kim, Ho-Seong Kim, Nam Huh, Sang Hyun Paek, Seoung Young Jung
Clin Exp Pediatr. 2004;47(6):641-646.   Published online June 15, 2004
Purpose : Maturity-onset diabetes of the young(MODY) is a subtype of type 2 diabetes defined by autosomal dominant mode of inheritance, onset of diabetes usually before the age of 25 yrs, and a primary defect in the function of the beta cells of the pancreas. MODY3 is known as the most common form and is caused by mutations in hepatocyte...
Epidemiological Study of Pneumococcal Nasal Carriage and Serotypes Among Korean Children
Sun Mi Kim, Jae Kyun Hur, Kyung Yil Lee, Young Kil Shin, Su Eun Park, Sang Hyuk Ma, Ahn Youn Min, Jin Han Kang
Clin Exp Pediatr. 2004;47(6):611-616.   Published online June 15, 2004
Purpose : The aim of this study was to determine the prevalence of pneumococcal nasal carriage and confirm the distribution of pneumococcal capsular serotypes in Korean children below aged 5 years old. Another reason this study was performed was to identify the theoretical coverage by seven valent conjugate pneumococcal vaccine, and confirm the penicillin resistant rate. Methods : This study included...
Case Report
Neurofibromatosis Type 1 with Cerebellar Piloytic Astrocytoma
In-Sang Jeon, Jung Sun Kim, Ji Hye Kim, Na Rae Kim
Clin Exp Pediatr. 2004;47(4):458-461.   Published online April 15, 2004
Neurofibromatosis type 1(NF1) is one of the most common inherited disorders, clinically characterized by caf -au-lait spots, Lisch nodules and neurofibromas. In addition, the affected individuals usually develop benign and malignant tumors of the nervous system. One of the most common tumors is the optic nerve glioma. NF1-associated glioma, however, rarely occurs in the cerebellum. Recently, we experienced a NF1-associated...
A Case of Tyrosinemia Type 1 with Cytomegalovirus Infection
Jin Hyung Cho, Kyu Jin Shim, Sung Koo Kim, Seon Hee Shin, Kon Hee Lee, Hae Sun Yun
Clin Exp Pediatr. 2004;47(1):111-114.   Published online January 15, 2004
Tyrosinemia type 1 is an autosomal recessive inborn error of tyrosine metabolism that caused a mutation in the gene coding for the enzyme fumarylacetoacetate hydrolase(FAH). As a result, maleylacetoacetate(MAA) and fumarylacetoacetate(FAA) are formed. The accumulated FAA is converted into succinylacetone(SA) and succinylacetoacetate(SAA) which are excreted in urine. The first report with typical clinical and biochemical findings was presented by Sakai...
Original Article
Causative Organisms in Children with Bacterial Meningitis(1992-2002)
Hyun-Jung Kim, JI-Won Lee, Kyung-Yil Lee, Hyung-Shin Lee, Ja-Hyun Hong, Seung-Hoon Hahn, Kyung-Tai Whang
Clin Exp Pediatr. 2003;46(11):1085-1088.   Published online November 15, 2003
Purpose : This study was performed to assess the difference of organisms causing bacterial meningitis according to time. Methods : We analyzed retrospectively 40 medical records of bacteriologically proven meningitis from 1992 to 2002. We divided them into two groups; neonate's group(14 cases), and children's group(26 cases). The results of the neonate's group were compared with those of previously reported articles...
Case Report
A Case of 21-Monosomy with Holoprosencephaly(Semilobar Type)
So Young Lee, Sung Min Cho
Clin Exp Pediatr. 2003;46(8):831-835.   Published online August 15, 2003
Holoprosencephaly of unknown definite causes, has been associated with several chromosome abnormalities involving the autosomes and the sex chromosomes. The most commonly reported associations include dup(3p), del(7q), deletions of chromosome 13, trisomy 13, trisomy 18, and triploidy. In previously reported cases in Korea, none were associated with chromosome 21 anomalies. In conclusion, we reported the first case of holoprosencephaly(semilobar type)...
A Case of Goltz Syndrome
Dong Hoon Lee, Chul Han Park, Ji Min Park, Set Byul Park, Heung Sik Kim, Young Wook Ryoo, Kyu Suk Lee, Hee Jung Lee
Clin Exp Pediatr. 2003;46(6):606-609.   Published online June 15, 2003
Goltz syndrome(focal dermal hypoplasia) is a rare disorder characterized by ectodermal and mesodermal dysplasia described in 1962 by Goltz. In Korea, one case of Goltz syndrome was reported in 1994. The inheritance mode is mostly X-linked dominant. Skin abnormality is the most common manifestation including hypoplasia of the dermis. Skeletal involvement such as syndactyly, polydactyly, scoliosis, kyphosis and spina bifida...
Original Article
A Study of Epstein-Barr Virus, and Human Leukocyte Antigen Typing in Children with Acute Infectious Mononucleosis
Seung-Hoon Hahn, Wan-Shik Shin, Hoon Han, Jin-Han Kang
Clin Exp Pediatr. 2003;46(5):467-473.   Published online May 15, 2003
Purpose : The Epstein-Barr virus(EBV), gamma herpesvirus, is an important pathogen that is widespread around the world. The EBV causes various diseases depending on the geographic location, and on the immunity or the premorbid condition of the person exposed to EBV. To evaluate EBV typing may be the most important step to figure out the pathogenesis of EBV associated diseases,...
Case Report
A Case of Glutaric Aciduria Type I with Macrocephaly
Woo Jong Shin, Yeo Ok Moon, Hye Ran Yoon, Eun Sil Dong, Young Min Ahn
Clin Exp Pediatr. 2003;46(3):295-301.   Published online March 15, 2003
Glutaric aciduria type 1(GA1) is an autosomal recessive disorder of the lysine, hydroxylysine and tryptophan metabolism caused by the deficiency of mitochondrial glutaryl-CoA dehydrogenase. This disease is characterized by macrocephaly at birth or shortly after birth and various neurologic symptoms. Between the first weeks and the 4-5th year of life, intercurrent illness such as viral infections, gastroenteritis, or even routine...
A Case of Glutaric Aciduria Type 1
Joon Young Song, Cheol Min Kim, Young Lim Shin, Han Wook Yoo
Clin Exp Pediatr. 2002;45(10):1278-1282.   Published online October 15, 2002
Glutaric aciduria(type 1) is characterized clinically by progressive dystonia and dyskinesia in childhood, pathologically by degeneration of caudate and putamen, biochemically by tissue deficiency of glutaryl-CoA dehydrogenase(GCDH), and is transmitted as an autosomal recessive traits. Mutations of the GCDH gene on chromosome 19 have been implicated in the causation of glutaric aciduria(type 1). Macrocephaly in infancy and crossing of percentiles for head circumference are real...
Original Article
Renal Anomalies in Children with Turner Syndrome
Ji Young Kim, Sun Young Hong, Young Mi Park, Yong Hoon Park, Woo Yeong Chung
Clin Exp Pediatr. 2002;45(7):891-895.   Published online July 15, 2002
Purpose : The prevalence of renal anomalies in Turner syndrome(TS) has been reported to vary from 33% to 60%. The purpose of this study was to clarify the true incidence of renal malformations in Korean TS. Methods : We evaluated 33 patients with Turner syndrome diagnosed by karyotype in Inje University Busan Paik hospital and Youngnam University from January 1995....
Clinical Characteristics of Type 2 Diabetes in Children and Adolescents
Seong Yong Lee, Choong Ho Shin, Sei Won Yang
Clin Exp Pediatr. 2002;45(6):754-763.   Published online June 15, 2002
Purpose : The incidence of type 2 diabetes in children and adolescents has been reported to increase recently. The aim of this study is to investigate the clinical features of type 2 diabetes developing during childhood and adolescent period. Methods : The medical records of 33 patients with type 2 diabetes were reviewed. We analysed clinical manifestations, demographic data, and modes...
Type 2 Diabetes Mellitus in Children
Jee Min Park, Eun Gyong Yoo, Duk Hee Kim
Clin Exp Pediatr. 2002;45(5):646-653.   Published online May 15, 2002
Purpose : The incidence of type 2 diabetes mellitus in children has been increasing worldwide recently, which is thought to be related to the increasing prevalence of obesity. We investigated to evaluate the incidence and the characteristics of type 2 diabetes mellitus in children and also analysed the relationship between intrauterine growth retardation and type 2 diabetes mellitus. Methods :...
Case Report
Nonrhizomelic Type of Chondrodysplasia Punctata Suspected in the Brothers
Jeum-Su Kim, Hae-Seoung Jung, Yong-Suk Kim, Chan-Hoo Park, Myoung Bum Choi, Hyang-Ok Woo, Hee-Shang Youn
Clin Exp Pediatr. 2001;44(10):1187-1192.   Published online October 15, 2001
Chondrodysplasia punctata is a heterogenous skeletal dysplasia characterized by small focal calcifications in articular and other cartilages in infancy, with subsequent epiphysial dysplasia and associated anomalies of the face, eyes, and skin. Chondrodysplasia punctata is classified with autosomal recessive rhizomelic type, autosomal dominant nonrhizomelic type(Conradi-Hunermann type), and X-linked dominant type. These types have different clinical manifestations respectively. We report cases...
A Case of Hereditary Motor and Sensory Neuropathy Type III
Su Hyun Cho, Soo-Jin Kim, Young-Hoon Kim, Yun Tae Kim, Yoon-Kyung Lee, Dong-Un Kim, Seung-Hoon Han, Seung-Yun Chung, In-Goo Lee, Kyung-Tai Whang, Je Geun Chi
Clin Exp Pediatr. 2001;44(9):1057-1061.   Published online September 15, 2001
Hereditary motor and sensory neuropathy type III, which is also known as Dejerine-Sottas disease, is a severe demyelinating polyneuropathy which presents from birth or infancy, and is sometimes presented as a hypotonic or floppy infant. The disease is inherited autosomal recessively and includes clinical findings of generalized muscle weakness and atrophy, with the greatest severity in distal limb muscles, areflexia, and sensory loss. The...
Chondrodysplasia Punctata(Rhizomelic Type) Associated with Pneumothorax
Ji Sun Mok, Hye Won Hwang, Jin Eun Kim, Dong Seok Lee, Doo Kwun Kim, Seong Min Choi
Clin Exp Pediatr. 2001;44(8):965-970.   Published online August 15, 2001
Chondrodysplasia punctata is a rare congenital syndrome caused by a peroxisomal dysfunction. Chondrodysplasia punctata is classified into four main types-Coradi-Hunermann's type, rhizomelic type, X-linked dominant form and X-linked recessive form. A male patient with this condition was born at 39 weeks gestation, the pregnancy being complicated by polyhydroamnios, breech presentation, and anomalies of congenital limbs. At delivery, there was no...
Original Article
Factors Related to the Development of Microalbuminuria in Children and Adolescents with Type 1 Diabetes Mellitus
Min Ho Jung, Pei Tai Wan, Choong Ho Shin, Sei Won Yang
Clin Exp Pediatr. 2001;44(5):577-586.   Published online May 15, 2001
Purpose : We observed the prevalence rate of microalbuminuria(MA) and its relationship with the various clinical factors in children and adolescents with type 1 diabetes mellitus(DM). Methods : Seventy two children and adolescents(26 males and 46 females, 17.1±3.0 years) were included. MA was defined as 24 hour urine microalbumin >30mg/day(20μg/min). Subjects were classified into three groups(normoalbuminuria, transient MA, or persistent MA)....
The Clinical Types and Characteristics of Diabetes Mellitus in Korean Children
Eun Gyong Yoo, Hye Jung Shin, Duk Hi Kim
Clin Exp Pediatr. 2000;43(12):1591-1598.   Published online December 15, 2000
Purpose : Diabetic children should be classified into type 1 or 2 for adequate diabetic control. However, there is a shortage of information of the appropriate criteria in Korea. This study is desinged to discover the clinical types and characteristics of diabetes mellitus(DM) in Korean children. Methods : We studied the clinical characteristics and laboratory findings of 177 diabetic children. Classification...
Epidemiologic Characteristics of T Serotyping in Relation to the Outbreak of Erythromycin Resistant Streptococcus pyogenes
Sung-Ho Cha, Kyu Jam Hwang, Young Hee Lee
Clin Exp Pediatr. 2000;43(10):1323-1329.   Published online October 15, 2000
Purpose : The identification of antigenic specificity of Streptococcus pyogenes using T serotyping is important to understand biologic characteristics of microorganisms. We would like to disover the association of the occurrence of predominant T type, with possible outbreak of erythromycin resistant Streptococcus pyogenes in this country, which has been documented since the late 1990s. Methods : Throat swab cultures were taken...
Factors Influencing the Onset of Honeymoon Period in Children with Type I Diabetes Mellitus
Jin Soon Hwang, Sei Won Yang
Clin Exp Pediatr. 2000;43(8):1106-1110.   Published online August 15, 2000
Purpose : Type I diabetes mellitus(DM) is an autoimmune disease which decreases insulin secretion of pancreatic β-cell. The honeymoon period in type I DM is known to be related to the partial recovery of C-peptide and preservation of pancreatic β-cell function. The aim of this study was to determine factors influencing the onset of honeymoon period in children with type...
Typing of Epstein-Barr Virus in Healthy Korean Children and Adults
Jin Han Kang, Jae Kyun Hur, Joeng Hyun Kim, Ahn Hee Lee
Clin Exp Pediatr. 2000;43(5):644-649.   Published online May 15, 2000
Purpose : Recently, the list of Epsterin-Barr Virus(EBV)-associated diseases has been growing. It is now known that there are two types(type 1 & 2) of EBV, but it has yet to be fully investigated as to whether type B EBV differs in any way from type A virus in terms of geographical distribution or disease association. We performed this study...
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