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Clinical Lecture
Differential Diagnosis and Treatment of Anemia in Children
Young Tak Lim
Clin Exp Pediatr. 2005;48(2):121-125.   Published online February 15, 2005
Anemia can be defined as a reduction in blood hemoglobin concentration or red cell mass relative to age matched normal values. Clinical presentation may range from obviously pale and lethargy to an incidental finding during screening of an otherwise well appearing child. The differential diagnosis of anemia in each instance is broad with numerous possible etiologies. A careful history and...
Original Article
Iron Deficiency Anemia and Iron Nutrition in Adolescent Female Athletes
Yang Kyong Kim, Bo Young Kang, Young Jin Hong, Byong Kwan Son, Kwang Hoi Kim, Soon Ki Kim
Clin Exp Pediatr. 2004;47(10):1041-1046.   Published online October 15, 2004
Purpose : Iron deficiency, particularly iron deficiency anemia(IDA) often not only decreases athletic performance but also impairs immune function and leads to other physiologic dysfunctions. This study was designed to assess and compare iron status and the IDA prevalence in female adolescent athletes with those of general adolescent students. Methods : Physical measurements and hematologic examinations were performed for adolescent...
Case Report
A Case of Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency Presenting as Uric Acid Lithiasis
Ji Hae Kim, Mi Jung Kim, Kee Hwan Yoo, Young Sook Hong, Joo Won Lee, Soon Kyum Kim
Clin Exp Pediatr. 2004;47(9):1020-1023.   Published online September 15, 2004
The deficiency of enzyme hypoxanthine-guanine phosphoribosyltransferase(HPRT) results in hyperuricemia and subsequently manifests in diverse symptoms. Lesch-Nyhan syndrome is a disorder characterized by hyperuricemia, mental retardation, choreoathetosis, spasticity and self-mutilation, resulting from complete deficiency of the enzyme, whereas partial deficiency of the enzyme shows symptoms of milder forms more often without abnormal neurologic signs. A 7-year-old boy with normal growth and...
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....
Case Report
A Case of Hereditary C7 Deficiency Associated with Meningococcal Meningitis
Hyun Woo We, Won Duck Kim, Sun Ju Lee, Dong Seok Lee, Doo Kwun Kim, Sung Min Choi, Gyoung Yim Ha
Clin Exp Pediatr. 2004;47(7):799-802.   Published online July 15, 2004
The complement system is composed of more than 25 different proteins and is usually divided into classical and alternative pathways. Complement component 7(C7) is one of the five terminal complement proteins that, upon activation of either the classical or the alternative pathway, interacts sequentially to form a large protein-protein complex, called membrane attack complex(MAC). Assembly of the MAC on target...
Clinical Lecture
Detection and Diagnosis of Primary Immunodeficiency Diseases
Youn-Soo Hahn
Clin Exp Pediatr. 2004;47(5):475-479.   Published online May 15, 2004
Primary immunodeficiency diseases result from innate defects of immune system. As a consequence, recurrent viral, bactrial, fungal, and protozoal infections of varying severity ensue. Although primary immunodeficiency diseases are relatively rare, intensive study of these disorder has expanded our understanding of immunity. Recent progress in immunobiology and genetics has identified the causes of many of the primary immunodeficiency diseases. Diagnosis...
Case Report
A Case of Teratocarcinoma with Central Diabetes Insipidus
Jong Hoon Kim, In Seok Lim, Eung Sang Choi, Byoung Hoon Yoo
Clin Exp Pediatr. 2004;47(4):453-457.   Published online April 15, 2004
Central diabetes insipidus is a rare disorder that can result as a consequence of diverse etiologies, including malformations, autoimmune, infiltrative(e.g. neoplastic or histiocytosis) or traumatic processes, as well as mutations in the gene encoding arginine vasopressin. Idiopathic central diabetes insipidus is a diagnosis of exclusion, one that has been made less frequently through the decades. Idiopathic central diabetes insipidus in...
Original Article
The Effect of Growth Hormone on Patients with Growth Hormone Deficiency and Idiopathic Short Stature
Jeong Cheol Kang, Yoon Suk Choi, In Kyong Choi, Ho Sung Kim, Duk Hee Kim
Clin Exp Pediatr. 2004;47(3):310-318.   Published online March 15, 2004
Purpose : This study was designed to evaluate the effect of growth hormones on children with growth hormone deficiency(GHD) or idiopathic short stature(ISS). Methods : Between January 1988 to July 2003, 45 patients(M26, F19) with GHD and 24 patients (M13, F11) with ISS were enrolled in this study. Height standard deviation score(Ht SDS) for chronological age(CA) and Ht SDS for bone...
Factors Affecting on Final Adult Height and Total Height Gain in Children with Idiopathic and Organic Growth Hormone Deficiency after Growth Hormone Treatment
Im Jeong Choi, Jin Soon Hwang, Choong Ho Shin, Sei Won Yang
Clin Exp Pediatr. 2003;46(8):803-810.   Published online August 15, 2003
Purpose : The purpose of this study was to evaluate the factors affecting the final adult height and total height gain in idiopathic and organic growth hormone deficient(GHD) children after growth hormone(GH) treatment. Methods : Thirteen patients with idiopathic GHD and 22 patients with organic GHD who had been treated with GH and attained adult final height were included in this...
Endocrine Function and Growth in Children with Craniopharyngioma
Yoo Mi Chung, Choong Ho Shin, Sei Won Yang
Clin Exp Pediatr. 2003;46(3):277-283.   Published online March 15, 2003
Purpose : Craniopharyngiomas are often accompanied by severe endocrine disorders. Although there is universal growth hormone deficiency(GHD), the resulting growth pattern is very heterogeneous. We report the growth and endocrine outcome of 44 children with craniopharyngioma, with emphasis on initial symptoms, growth before and during growth hormone(GH) treatment and spontaneous growth in spite of GHD. Methods : We performed a...
Nutritional Assessment and the Effectiveness of Dietary Counseling in Infants and Young Children with Iron Deficiency Anemia
Ja Kyoung Kim, Eun Young Ko, Yu Jin Lee, Yong Hun Jun, Soon Ki Kim
Clin Exp Pediatr. 2003;46(1):11-16.   Published online January 15, 2003
Purpose : Iron deficiency is still the most common nutrient deficient disorder despite the improvement in general health and nutrition. This study is designed to evaluate the dietary history of infants and young children with iron deficiency anemia(IDA) and the effects of nutritional counseling. Methods : This study was conducted on 120 children from 6 to 36 months of age with...
Case Report
A Case of Thyroxine Binding Globulin Deficiency with Hypothyroidism
Dong-Chul Lee, Sun-Hee Lee, Jae-Hong Yu
Clin Exp Pediatr. 2002;45(6):796-799.   Published online June 15, 2002
A child diagnosed with congenital hypothyroidism after newborn screening and follow up thyroid function test at 1 month of life in another general hospital demonstrated euthyroid state with thyroxine(T4) supplementation until the age of 22 months of life, when he was transferred to our hospital, where he was diagnosed as thyroxine binding globulin(TBG) deficiency with low T4 and TBG. Withdrawal...
Original Article
Anemia and Serum Iron Status in Adolescent Female
Ju Rae Cho, Soon Ki Kim, Sang Kyu Park, Jeong Ok Hah
Clin Exp Pediatr. 2002;45(3):362-369.   Published online March 15, 2002
Purpose : Anemia is still the most common nutrient deficiency worldwide, especially in adolescence because of an insufficient supply of iron, an increased iron requirement due to accelerated physical growth and blood loss due to menstruation in girls. This study was designed to assess the anemia and serum iron status of middle school girls. Methods : Hematologic examinations, physical examinations and...
Case Report
A Case Of Common Variable Immunodeficiency with Fatal Measles
Su Jin Cho, So Hyun Kim, Soo Jung Lee, Kyung Ha Yoo, Kyung Hyo Kim
Clin Exp Pediatr. 2001;44(12):1463-1468.   Published online December 15, 2001
Common variable immunodeficiency(CVID) is a heterogeneous immunodeficiency syndrome characterized by hypogammaglobulinemia, recurrent bacterial infections, and a variety of immunological abnormalities. We report a 10-year-old boy diagnosed with CVID and a fatal case of measles. He was admitted for fever, cough, conjunctival injection with purulent discharge and maculopapular rash with some scattered pinpoint sized petechial lesions on the whole body for...
A Case of Congenital Methemoglobinemia Due to NADH-Methemoglobin Reductase Deficiency
Do Hyeon Kim, Jin A Lee, Sung Jae Lee, Heui Seung Jo, Yun Kyoung Lee, June Dong Park, Beyong Il Kim, Jung-Hwan Choi, Dong Soon Lee, Han Ik Cho, Kyung Ran Park
Clin Exp Pediatr. 2001;44(6):699-704.   Published online June 15, 2001
Congenital methemoglobinemia is caused by NADH-methemoglobin reductase deficiency in more than half of the total reported cases. NADH-methemoglobin reductase deficiency is an uncommon hereditary disorder producing methemoglobinemia and cyanosis in the homozygous subject. A majority of the patients born with these abnormalities have only a cosmetic defect-asymptomatic cyanosis. Congenital methemoglobinemia due to NADH-methemoglobin reductase deficiency is an autosomal recessive disorder...
An Infant with Vertical Transmission of Human Immunodeficiency Virus Infection Detected Due to Failure to Thrive
Byung Wook Eun, Ho Kyung Lim, Yun Kyung Kim, Yuong Ho Kwak, Jung Youn Hong, He Sun Jung, Kyung Mo Kim, Hoan Jong Lee
Clin Exp Pediatr. 2001;44(5):592-596.   Published online May 15, 2001
Five to fifteen percent of patients affected by human immunodeficiency virus(HIV) are children in developing countries. In Korea, most of HIV infections in children have been transfusion-related, and cases of vertical transmission have been very rare so far and are usually suspected due to a maternal positive history. We experienced a case of vertical transmission of HIV in a 19...
Original Article
A Case of Xp21 Contiguous Gene Deletion Syndrome with Hyperglycerolemia, Congenital Adrenal Hypoplasia and Duchenne Muscular Dystrophy
Dae-Won Shin, Jun Huh, Hong-Jin Lee, Won-Ill Park, Kyung-Ja Lee, Yoon-Sook Shin, D.R. Sjarif, B.T. Poll-The
Clin Exp Pediatr. 2001;44(1):83-88.   Published online January 15, 2001
On Xp21 region several genes such as adrenal hypoplasia congenita(AHC) gene, glycerol kinase (GK) gene and Duchenne muscular dystrophy(DMD) gene are located contiguously. If there is a long deletion in that region, various combination of genetic defect can be occurred from one kind of genetic defect to all three kinds of genetic defect simultaneously. In case of more than two...
Factors Affecting the Presence of Menarche and Final Adult Height in Adult Female Patients with Congenital Adrenal Hyperplasia of 21-Hydroxylase Deficiency
Seong Yong Lee, Chae Kyoung Song, Min Ho Jung, Jin Soon Hwang, Sei Won Yang
Clin Exp Pediatr. 2001;44(1):75-82.   Published online January 15, 2001
Purpose : Amenorrhea and short stature are serious complications in patients with congenital adrenal hyperplasia of 21-hydroxylase deficiency(CAH). We analysed several factors influencing the presence of menarche and final adult height in these patients. Methods : We retrospectively reviewed medical records of 24 female patients with CAH. We analysed possible factors affecting the menarche and final adult height, such as clinical...
Immunologic Characteristics of CATCH 22 Syndrome
Hye Young Ryu, Eun Kyung Jo, Eun Jung Cheon, Hong Ryang Kil, Jae Ho Lee
Clin Exp Pediatr. 2000;43(11):1423-1429.   Published online November 15, 2000
Purpose : Microdeletion of chromosome 22q11.2 are associated with DiGeorge syndrome(DGS), velocardiofacial syndrome(VCFS) and conotruncal anomaly face syndrome(CTAFS). DGS was originally described as an immunodeficiency disorder secondary to impaired T cell production due to thymic aplasia or hypoplasia. But the frequency & severity of immunodeficiency of other clinical syndromes associated with the chromosome 22q11 deletion has not been investigated. This...
Effect of Growth Hormone Secretion on Serum Concentration of Leptin
Se-Eun Kim, Jeong-Nyeo Lee, Sang-Ook Nam, Woo-Yeong Chung
Clin Exp Pediatr. 2000;43(7):959-966.   Published online July 15, 2000
Purpose : To investigate the effect of growth hormone(GH) secretion on serum concentration of leptin, we evaluated the differences in serum concentration of leptin between patients with growth hormone deficiency(GHD) and GH normal short stature in prepubertal male children, and the relationship between GH and serum leptin level. Also, we analyzed the correlation between serum concentrations of leptin and insulin-like growth factor-I(IGF-I), insulin-like growth...
Red Blood Cell Indices, Serum Iron and Total Iron Binding Capacity in Children with Helicobacter pylori Infection
Soo Joon Park, Chang Han Lee, Ki Sup Chung
Clin Exp Pediatr. 2000;43(6):755-762.   Published online June 15, 2000
Purpose : H. pylori infection was recently reported to be associated with unexplained iron-deficiency anemia(IDA) in children and adolescents. H. pylori-related IDA was thought to occur due to GI blood loss, scavenging of iron by H. pylori and iron malabsorption. The aim of this study was to examine how the status of H. pylori infection and age of children affected...
Case Report
A Case of Factor Ⅶ Deficiency Presenting as Hemarthroses
Han Seong Ko, Kee Hwan Yoo, Kwang Chul Lee, Young Sook Hong, Joo Won Lee, Soon Kyum Kim
Clin Exp Pediatr. 2000;43(3):428-431.   Published online March 15, 2000
Factor Ⅶ deficiency has an estimated incidence of 1/500,000 in the general population and autosomal recessive pattern of inheritance. Factor Ⅶ deficiency is characterized by prolonged prothrombin time(PT), and normal activated partial thromboplastin time(aPTT) and bleeding time(BT). Definite diagnosis of this condition requires a specific Factor Ⅶ assay. The clinical features are variable and do not always correlate with the...
A Case of Ornithine Transcarbamylase(OTC) Deficiency
Soonhak Kwon, Yejhin Lee, Byung-Ho Choe, Sangkwon Lee
Clin Exp Pediatr. 2000;43(1):123-127.   Published online January 15, 2000
OTC deficiency is an X-linked disorder in which the synthesis of urea is impaired. OTC catalyzes the synthesis of citrulline from carbamyl phosphate and ornithine. Complete or partial deficiencies of this enzyme may lead to Reye syndrome like picture such as encephalopathy, hepatic dysfunction, hyperammonemia, etc. We recently had a case that was presented as recurrent Reye syndrome, and was...
A Case of Common Variable Immunodeficiency with Autoimmune Hemolytic Anemia
Kyung-Yil Lee, Yon-Joo Lee, Sang-Won Cha, Dong Joon Lee, Ji-Whan Han, Kyung-Tae Whang, Joong-Gon Kim
Clin Exp Pediatr. 2000;43(1):117-122.   Published online January 15, 2000
Common variable immunodeficiency(CVID) is a heterogeneous collection of disorders with hypogammaglobulinemia with recurrent bacterial infections and high incidence of autoimmune disorders as its hallmark. We report a 7-year-old girl suffering from CVID with Coombs' test positive hemolytic anemia. She had been relatively well until 23-months old when she was admitted to Taejon St. Mary' s Hospital with pneumonia 5 years ago. Afterwards, she had...
Original Article
A Comparative Study of Red Blood Cell Indices and Anemia by Feeding Patterns
Pill-Jin Shin, Chong-Woo Bae, Yong-Mook Choi
Clin Exp Pediatr. 1999;42(8):1104-1110.   Published online August 15, 1999
Purpose : Iron-deficiency anemia is the most common nutritional deficiency in young infants. This study was designed to determine feeding patterns in infants, and determine a correlation between feeding patterns and incidence of anemia. Methods : This study was conducted by taking blood tests (hemoglobin, hematocrit, and red cell indices) by venipuncture with the electronic counters from 221 infants aged 9-12...
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...
Case Report
A Case of Ornithine Transcarbamylase Deficiency Successfully Treated with Protein Restriction and Living Related Liver Transplantation
Bong Seong Kim, Kyung Mo Kim, Han-Wook Yoo, Sung Gyu Lee
Clin Exp Pediatr. 1999;42(6):868-873.   Published online June 15, 1999
Ornithine transcarbamylase deficiency(OTCD), the most common inborn error of the urea cycle, is inherited in X-linked manner. In affected hemizygote males, OTCD manifests hyperammonemic coma that often leads to death during the newborn period. Our patient was at high risk for inborn error of urea cycle metabolism, since his two elder brothers died a few days after birth due to...
Original Article
Gastrointestinal Disease in Children with Iron Deficiency Anemia
Yong Joo Kim, Sung Kyun Park, Ho Joon Lim, Hahang Lee
Clin Exp Pediatr. 1999;42(5):697-703.   Published online May 15, 1999
Purpose : The authors performed this study to find out the associated GI disease and H. pylori infection in children with iron-deficiency anemia(IDA). Methods : Twenty-six children older than 2 years with IDA and no history of insufficient iron intake were investigated from 1994 to 1998. Gastrofiberoscopic examination and biopsy and rapid urease test were performed with serum H. pylori IgG....
Case Report
A Case of Congenital Factor Ⅶ Deficiency Associated with Intraventricular Hemorrhage and Hydrocephalus
Hyoung Jun Kim, Jin Hwa Jung, Jeong Ho Lee, Jong Dae Jo
Clin Exp Pediatr. 1998;41(12):1726-1730.   Published online December 15, 1998
Congenital factor Ⅶ deficiency is a rare bleeding disorder with an estimated incidence of 1 in 500,000. It is inherited as an autosomal recessive pattern with variable expression and high penetrance. In severely affected patients, repeated hemarthroses, chronic crippling hemarthropathy, and dangerous hematomas can occur. Other types of hemorrhage include epistaxis, menorrhagia, hematuria, gastrointestinal and gingival bleeding. Fetal cerebral hemorrhage...
Original Article
Clinical Features and Endoscopic Findings of Helicobacter pylori Infection in Children
Seon Hee Kim, Cheol Ho Chang, Churl Young Chung
Clin Exp Pediatr. 1998;41(10):1359-1364.   Published online October 15, 1998
Purpose : Helicobacter pylori(H. pylori) is recognized as the cause of primary or unexplained gastrointestinal diseases in children as well as in adults. However, it is unclear whether H. pylori causes specific clinical symptoms or diseases. Therefore, we studied the clinical manifestations associated with H. pylori infection in consecutive symptomatic children undergoing diagnostic endoscopy. Methods : This study included 42...
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