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Review Article
Diagnosis of inherited metabolic disorders based on their diverse clinical features and laboratory tests
Han-Wook Yoo
Clin Exp Pediatr. 2006;49(11):1140-1151.   Published online November 15, 2006
Inherited metabolic disorders are individually rare but as a whole, they are nor rare. Since Archibald Garrod introduced a concept of “inborn error of metabolism” or “chemical individuality”, more than 500 diseases are currently known, affecting approximately one in 500 newborns cumulatively. They frequently manifest with acute, life-threatening crisis that require immediate specific intervention or they present with insidious diverse...
Hemophilia
Ki Young Yoo
Clin Exp Pediatr. 2006;49(8):821-829.   Published online August 15, 2006
Hemophilia is the most common coagulation disorder. It has a long history. Hemophilia A is caused by FVIII gene mutation, and hemophilia B by FIX gene mutation. Those genes are located on X chromosome long arm. Bleedings in hemophiliacs predominantly occur in joints and muscles. Because those site are insufficient in tissue factor to induce hemostasis. Among joints knee, ankle...
Original Article
Diagnostic limitation and usefulness of 99mTc-DISIDA hepatobiliary scanning on neonatal cholestasis
Jung Mi Kim, Byung-Ho Choi, You Cheol Jang, Ki Won Oh, Min Hyun Cho, Kyung Hee Lee, Jin-Young Park, Heng Mi Kim
Clin Exp Pediatr. 2006;49(7):737-744.   Published online July 15, 2006
Purpose : To assess the usefulness of 99mTc-DISIDA scanning in the early evaluation of neonatal cholestasis and to verify the diagnostic value of this test in the differential diagnosis of biliary atresia. Methods : DISIDA scannings were performed and analyzed in 87 children(58 males and 29 females; age, 18-139 days, mean, 59.1 days) with neonatal cholestasis. Five groups according to the...
Evaluation of diagnostic methods in children with nonpalpable undescended testis
Noh Sung Seok, Hong Jin Suh, Dong Hwan Lee
Clin Exp Pediatr. 2006;49(7):732-736.   Published online July 15, 2006
Purpose : Numerous methods exist for diagnosing nonpalpable testis in treatment of cryptochidism. However, there is no clinically established data for the rational diagnostic tool of nonpalpable testis in terms of expenses. We tried to establish a current conventional diagnostic course of nonpalpable testis. We then evaluated the efficacy of ultrasonography, physical examination under general anesthesia and laparoscopy for diagnosing...
Review Article
Allergic rhinitis in children : diagnosis and treatment
Yeong-Ho Rha
Clin Exp Pediatr. 2006;49(6):593-601.   Published online June 15, 2006
Allergic rhinitis is a common disease of childhood characterized by nasal, throat, and ocular itching, rhinorrhea, sneezing, nasal congestion. Those affected with allergic rhinitis often suffer from associated inflammatory conditions of the mucosa, such as allergic conjunctivitis, rhinosinusitis, asthma, otitis media with effusion, and other atopic conditions, such as eczema and food allergies. Allergic rhinitis must be diagnosed and treated...
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
Quantification of Organic Acids in Amniotic Fluid for Prenatal Diagnosis of Organic Acidemia
Chang Bum Koh, Dong Soo Shin, Eun Joo Bae, Won Il Park, Kyeung Ja Lee, Hong Jin Lee, Young Jo, Seung Won Lee, Ui Sun Noh
Clin Exp Pediatr. 2004;47(10):1047-1052.   Published online October 15, 2004
Purpose : Since 1997, the quantification of organic acids in urine has become possible in Korea. This helped to diagnose a great variety of inborn errors of metabolism. However, we still don't know the normal value of organic acids in amniotic fluid, therefore it is impossible for doctors to make a correct diagnosis of inborn errors of metabolism in prenatal...
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...
Original Article
Values of Lung CT in Children with a Vague History of Aspiration
Myoung-Bum Choi, Hyang-Ok Woo, Jum-Su Kim, Ji-Hyoun Seo, Jae-Young Lim, Chan-Hoo Park, Jin-Jong You, Hee-Shang Youn
Clin Exp Pediatr. 2004;47(4):399-404.   Published online April 15, 2004
Purpose : The purpose of this study was to investigate the diagnostic value of spiral computed tomography (CT) using contiguous slices with partially thin sections around the hilar level in the bronchial foreign bodies of children with a vague history of aspiration. Methods : Fourteen children were identified to be examined with spiral CT due to obscure histories of aspiration episodes....
Clinical Lecture
Food Allergy
Soo-Young Lee
Clin Exp Pediatr. 2004;47(3):240-246.   Published online March 15, 2004
Food allergy is one of the clinical clusters due to food-induced allergic inflammation against dietary proteins which induced by IgE-mediated and/or non-IgE mediated mechanisms. Food allergic reactions are responsible for a variety of clinical symptoms involving the skin, gastrointestinal tract, and respiratory tract. Sometimes the life threatening anaphylactic reactions would be induced, especially by peanuts, tree nuts and buckwheat allergy....
Helicobacter pylori Infection in Children : Recommendations for Diagnosis and Treatment
Yon Ho Choe
Clin Exp Pediatr. 2004;47(3):235-239.   Published online March 15, 2004
Helicobacter pylori(H. pylori) infection is mainly acquired in childhood. The prevalence of infection is still highest in children in the developing world. There has been a need for clinical guidelines for H. pylori infection in children. Therefore, the North American Society for Pediatric Gastroenterology and Nutrition and the European Paediatric Task Force on H. pylori achieved consensus and developed clinical...
Original Article
Detection of Helicobacter pylori by Pre-embedding Immunoelectron Microscopy -Comparison with Immunoblotting Method
Hae-Seoung Jung, Eun-Jung Kim, Eun-A Kim, Ji-Hoe Park, Jin-Su Jun, Ji-Hyoun Seo, Jae-Young Lim, Myoung-Bum Choi, Hyang-Ok Woo, Hee-Shang Youn, Gyung-Hyuck Ko, Seung-Chul Baik, Woo-Kon Lee, Myung-Je Cho, and Kwang-Ho Rhee
Clin Exp Pediatr. 2002;45(7):862-874.   Published online July 15, 2002
Purpose : We tried to evaluate whether the detection rate of Helicobacter pylori in gastric biopsy specimens could be improved by using pre-embedding immunoelectron microscopy. Methods : A total of 119 children who complained of upper gastrointestinal symptoms were endoscoped at the Gyeongsang National University Hospital from July, 1996 to July, 1999. Five biopsy specimens(three for urease test, one for...
The Diagnostic Usefulness of Endoscopic Findings and Detection Rates of CLO and HpKit Test for Helicobacter pylori Infection in Children
Seung Yeon Lee, Ji Hyung Yoo, Ki Sup Chung
Clin Exp Pediatr. 2002;45(4):482-488.   Published online April 15, 2002
Purpose : We performed this study to evaluate the diagnostic usefulness of endoscopic finding of nodular gastritis, CLO and HpKit test for H. pylori infection in children. Methods : Gastroduodenal endoscopy and mucosal biopsy were performed on 212 children who visited our hospital between Jul. 1999 and May 2000 due to abdominal pain. We performed CLO and HpKit test for H....
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...
Usefulness of the Flexible Bronchoscopy for Pediatric Respiratory Diseases
Chang Keun Kim, Churl Young Chung
Clin Exp Pediatr. 1999;42(6):783-789.   Published online June 15, 1999
Purpose : Flexible bronchoscopy is an important diagnostic and sometimes therapeutic tool that can be used on infants and children using light sedation and local anaesthesia. The purpose of this study is to evaluate the contribution of the flexible bronchoscopy to clinical diagnosis and therapy in children. Methods : We examined the first 100 consecutive flexible bronchoscopies performed in children under...
Erratum
Echocardiographic Evaluation of the Natural Processes in Uncomplicated Ventricular Septal Defect
Hyang Suk Yoon, Du Young Choi
Accepted January 1, 1970  
We studied, with echocardiography as a main tool, the natural processes of 211 patients with uncomplicated ventricular septal defect(VSD)(incidence, 5.33 per 1,000 live births); 146(69.2%) had a perimembranous VSD and 32 (15.2%) had a subarterial, 25(11.8%) had a muscular type of VSD. Cumulative rate of spontaneous closure was 26.1%. In the closure processes, about three-fourth of perimembranous VSd showed a...
Original Article
A Clinical Study on Early Diagnosis in Neonatal Sepsis
Jong Kwang Lee, Hae Won Cheon, Jee Hee Park, Jung Hwa Lee, Joo Won Lee, Soon Kyum Kim
Clin Exp Pediatr. 1993;36(1):49-56.   Published online January 15, 1993
Neonatal sepsis is a major contributing factor for increased mortality and morbidity in the newborn and its successful outcome depends on early detection and prompt institution of an effective antimicrobial therapy. Accurate diagnosis of the neonatal septicemia, however, is quite difficult because its early signs and symptoms are rather subtle. This study was conducted in an attempt to search for useful...
Congenital cytomegalovirus infection: incidence and clinical outcome.
Young Mo Sohn, Kook In Park, Chul Lee, Dong Kwan Han, Won Young Lee
Clin Exp Pediatr. 1991;34(10):1365-1372.   Published online October 31, 1991
In order to assess the rate of congenital cytomegalovirus (CMV) infection in newborns, CMV IgG antibody was studies at about 37.5 weeks gestation in 309 mothers and a positive rate of 96.4% was obtained. Virus culture for CMV from urine of 514 neonates less than 1 week after birth resulted in CMV growth in 6 neonates showing a 1.2% congenital infection rate. In...
Diagnostic Significance in Case with Growth Hormone Deficient Dwarfs.
Duk Hi Kim, Mi Jung Park, Yan Kyu Lee
Clin Exp Pediatr. 1990;33(12):1699-1704.   Published online December 31, 1990
As the scope for treatment with GH widens, it is of interest to evaluate those criteria that are used conventionally for diagnosis of GH deficiency. 11 patients with hypotha lamic-pituitay lesions and 11 patients with idiopathic GH deficiency underwent retesting GH secretion with insulin or arginine stimulation test. All 11 parients with organic GH deficiency remained GH deficient. Of the 11 retested patients with...
A Clinico-Epidemilological Study of 55 Cases of Chidhood Idiopathic Thrombocytopenic Purpura.
Won Ho Kang, Myung Hee Kook, Yong Sang Yoo, Jae Suk Ma, Tai Ju Hwang
Clin Exp Pediatr. 1987;30(11):1207-1212.   Published online November 30, 1987
Fifty-five children with idiopathic thrombocytopenic purpura (ITP) were admitted to the Department of pediatrics, Chonnam University Hospital during 6 years and 5 months from January 1980 to May 1986. We Compared clinical pictures and effects of steroids and platelet concentrates on acute and chronic ITP. No significant sexual predominance was found in total patients with ITP, but also between acute and chronic types,...