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Correspondence
Erratum: Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA
Na Hee Lee, Sung Yoon Cho, Se Hyun Maeng, Tae Yeon Jeon, Young Bae Sohn, Su Jin Kim, Hyung-Doo Park, Dong Kyu Jin
Clin Exp Pediatr. 2013;56(3):143-143.   Published online March 18, 2013
Original Article
Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA
Na Hee Lee, Sung Yoon Cho, Se Hyun Maeng, Tae Yeon Jeon, Young Bae Sohn, Su Jin Kim, Hyung-Doo Park, Dong Kyu Jin
Clin Exp Pediatr. 2012;55(11):430-437.   Published online November 23, 2012
Purpose

Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is rare lysosomal storage disorder caused by N-acetylgalactosamine-6-sulfatase (GALNS) deficiency. Only a few MPS IVA cases have been reported in the Korean literature; there is a paucity of research about clinical or radiologic findings for this disorder. Therefore, we studied clinical findings, radiological features, and genetic data of Korean MPS IVA patients for...

Review Article
Systematic review of the clinical and genetic aspects of Prader-Willi syndrome
Dong Kyu Jin
Clin Exp Pediatr. 2011;54(2):55-63.   Published online February 28, 2011

Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder that is caused by the lack of expression of paternally inherited imprinted genes on chromosome 15q11-q13. This syndrome has a characteristic phenotype including severe neonatal hypotonia, early-onset hyperphagia, development of morbid obesity, short stature, hypogonadism, learning disabilities, behavioral problems, and psychiatric problems. PWS is an example of a genetic condition caused...

Original Article
Clinical and Laboratory Features of Korean Mucopolysaccharidoses (MPSs)
Woo Yun Sohn, Jee Hyun Lee, Kyung Hoon Paik, Eun Kyoung Kwon, Ahn Hee Kim, Dong Kyu Jin
Clin Exp Pediatr. 2005;48(10):1132-1138.   Published online October 15, 2005
Purpose : The mucopolysaccharidoses (MPSs) are a heterogeneous group of lysosomal storage disorders. They are caused by a deficiency of the enzymes involved in the degradation of glycosaminoglycans. Early recognition is important because recombinant enzyme replacement therapy is now available for MPS. We studied the clinical characteristics of 80 MPS children with the object of determining the epidemiological, clinical and...
Expression of Expanded Polyglutamine Disease Proteins in Drosophila (Drosophila Polyglutamine Disease Models)
Sang Min Shin, Kyung Hoon Paik, Dong Kyu Jin
Clin Exp Pediatr. 2005;48(4):425-432.   Published online April 15, 2005
Purpose : Polyglutamine diseases are a group of diseases caused by the expansion of a polyglutamine tract in the protein. The present study was performed to verify if polyglutamine disease transgenic Drosophila models show similar dysfunctions as are seen in human patients. Methods : Polyglutamine disease transgenic Drosophila were tested for their climbing ability. And using genetic methods, the effects of...
Clinical Characteristics and Genetic Analysis of Prader-Willi Syndrome
Ji Eun Lee, Kwang Bin Moon, Jong Hee Hwang, Eun Kyung Kwon, Sun Hee Kim, Jong Won Kim, Dong Kyu Jin
Clin Exp Pediatr. 2002;45(9):1126-1133.   Published online September 15, 2002
Purpose : Prader-Willi syndrome(PWS) is a complex disorder affecting multisystems with characteristic clinical features. Its genetic basis is an expression defect in the paternally derived chromosome 15q11-q13. We analyzed the clinical features and genetic basis of PWS patients for early detection and treatment. Methods : We retrospectively studied 24 patients with PWS in Department of Pediatrics, Samsung Medical Center, from...
Case Report
Zellweger Syndrome : First Confirmed Neonatal Case in Korea
Sung Sin Kim, Yun Hwa An, Yun Sil Chang, Dong Kyu Jin, Won Soon Park, Moon Hang Lee, Jong Won Kim, Hye Kyoung Yoon, Bo Kyoung Kim
Clin Exp Pediatr. 2001;44(6):694-698.   Published online June 15, 2001
We describe below a case of Zellweger syndrome case with facial dysmorphism, profound hypotonia, and hepatomegaly. He died at the age of 2 months. Zellweger syndrome is a disease marked by the absence of hepatic and renal peroxisomes. Because peroxisomes have many vital anabolic and catabolic functions within the cell, their absence results in profound cellular dysfunction. A biochemical study...
Original Article
Clinical Evaluation of Hypoglycemic Symptoms Reported by Children with Insulin-dependent Diabetes Mellitus and by Their Parents
Byeong Eul Lee, Hwa Young Park, Cheong Mi Cheon, Eun Kyeong Kwon, Seung Mee Song, Jung Sim Kim, Dong Kyu Jin
Clin Exp Pediatr. 2001;44(4):450-455.   Published online April 15, 2001
Purpose : The following study has been carried out to find the symptoms of hypoglycemia and the symptoms of transient focal neurologic deficit, which were complained by insulin dependent diabetes mellitus patients and their parents. Methods : The subjects of this study were 16 insulin dependent diabetic patients who were admitted to the pediatric department of Samsung Medical Center. From the...
Central Diabetes Insipidus in Children Related to Craniotomy for a Brain Tumor
Seung Mi Song, Eun Jung Park, Jung Sim Kim, Hong Hoe Koo, Mun Hyang Lee, Hyung Jin Shin, Dong Kyu Jin
Clin Exp Pediatr. 1999;42(12):1702-1710.   Published online December 15, 1999
Purpose : Diabetes insipidus(DI) has been known to be a relatively common complication after craniotomy. We have investigated the incidence and clinical course of DI in children related to craniotomy for a brain tumor and determined the risk factors of postoperative DI. Methods : Sixty-two pediatric patients, who have undergone craniotomy for a brain tumor(including stereotactic biopsy) from February 1995 through...
The Clinical Study on Marfan Syndrome
Jung Sim Kim, Dong Kyu Jin, See Hwan Ko, Jee Yeon Min, I-Seok Kang, Kye Won Jeon, Yung Lan Choi, Heung Jae Lee, Seung Woo Park, Won Ro Lee, Chong Suh Lee, Sei Yeul Oh, Chang Won Ki, Han Wook Yoo, In Sook Park, Jae Kon Ko
Clin Exp Pediatr. 1998;41(10):1411-1416.   Published online October 15, 1998
Purpose : The aim of this study was to assess the involvement of several organs patients with Marfan syndrome in Korea. Also the clinical features in childhood patients with Marfan syndrome were assessed. Methods : Thirty-eight cases of Marfan syndrome were enrolled in this study. Clinical evaluations of the musculoskeletal, cardiovascular and occular system were performed in all cases. Results : The...
Case Report
Two Cases of Wolman's in Siblings
Joon Sung Kim, Tai Huyng Cho, Hoon Kook, Seung Hee Choi, Young Youn Choi, Chang Soo Park, Heoung Keun Kang, Dong Kyu Jin, Tai Ju Hwang
Clin Exp Pediatr. 1998;41(4):529-537.   Published online April 15, 1998
Wolman' disease is a rare autosomal recessive disorder in which a deficiency of lysosomal acid lipase leads to the accumulation of cholesteryl esters and trigycerides in most of the body tissues. Clinically, it is characterized by abdominal distention, hepatosplenomegaly, vomiting, intractable diarrgeam steatorrhea, malabsorption, inanitionm failure to thrive, and bilateral enlargement and calcification of the adrenal glands demonstrated by roentgenographic...
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
Constipation in Children-Colonic Transit Time and the Barr-Score
Nam-Seon Beck, I Sok Kang, Dong Kyu Jin, Munhyang Lee, Sang Il Lee, Heung Jae Lee, Bokyung Kim, Tae Sung Park
Clin Exp Pediatr. 1997;40(10):1427-1434.   Published online October 15, 1997
Purpose : We have assessed the clinical usefulness of solid maker transit technique and Barr-score in 31 patients with idiopathic constipation (male:female; 17:14, mean age; 6.7 years, range 1.4-12 years). Methods : All patients underwent full history taking and physical examination including rectal examination. On first visit to gastroenterology clinic a plain abdominal film was taken for Barr-score which evaluated by two observers without the...
Case Report
Three Cases of Cardiac Arrythmias Associated with Intravenous Methylprednisolone Pulse Therapy
Jun Ho Lee, Jun Huh, Myung Dong Shin, Dong Kyu Jin, Il Soo Ha, Hae Il Cheong, Chung Il Noh, Yong Choi
Clin Exp Pediatr. 1997;40(3):393-407.   Published online March 15, 1997
Methylprednisolone(MP) is administered by means of intravenous pulse therapy especially in the patients with focal segmental glomerulosclerosis(FSGS). There have been reports of its complications in a few increasing frequency. We experienced three cases of cardiaccomplications during intravenous pulsetherapy.Therewere onecaseof2¡ÆA-V block(Mobitztype I) and two cases of bradycardia and hypotension. In the former,2¡ÆA-V block in the first case deveoloped 45 hours after...
Medical Lecture Course
Molecular Genetics on the Hereditary Neurodegenerative Disorders caused by Trinucleotide Expansion
Dong Kyu Jin
Clin Exp Pediatr. 1996;39(7):894-900.   Published online July 15, 1996
Original Article
Production and characterization of monoclonal antibodies against human albumin.
Ja Wook Koo, Dong Kyu Jin, Yong Choi, Kwang Wook Ko, Suhnggwon Kim, Jung Sang Lee, Chung Gyu Park, Chang Yong Cha
Clin Exp Pediatr. 1991;34(8):1070-1079.   Published online August 31, 1991
Hybridoma technology를 이용하여 human albumin에 선택적으로 반응하는 4 종류의 단세포군 항 처 1(HSA-1，HSA-2, HSA-3, HSA-4) 를 개발하였다. 단세포군의 isotype 및 subclass를 효소 결합 면역 측정법으로 검색한 결과 IgGi 이었다. 단세포군 항체 HSA-1 을 제외한 HSA-2, HSA-3, HSA-4 모두 human albumin에 선택적으로 반 응함을 효소 결합면역 측정 법과 Western blot immunoassay로 알아내 었다. HSA-1, HSA-2, HSA-3는 albumin의 reduction 여부와 관계 없이 albumin molecule과 반응하였 으나，HSA-4는 albumin을 reduction하지...
Acute renal failure with back pain after exercise.
Hae Jung Park, Mi Jung Kim, Dong Kyu Jin, Hae Il Cheong, Yong Choi, Kwang Wook Ko, Jung Mi Park, Kyung Mo Yeun
Clin Exp Pediatr. 1991;34(6):863-868.   Published online June 30, 1991
We have experienced one case of acute renal failure without clinical rhabdomyolysis characterized by preceding exercise and back pain. This patient showed patch renal increased uptakes in bone scan with 99mTechnetium-methylene diphosphonate, and delayed wedge-shaped contrast enhancements in renal computed tomography. These findings can be explained by focal renal vasoconstriction of interlobar arteries or arcuate arteries, which may be considered as one of the...
IgA Nephropathy in Childhood.
Yong Choi, Dong Woo Son, Ja Wook Koo, Dong Kyu Jin, Hae Il Cheong, Kwang Wook Ko, Hyun Soon Lee, Yong Il Kim
Clin Exp Pediatr. 1990;33(9):1237-1243.   Published online September 30, 1990
In this study we compared between the patients with recurrent gross hematuria (group 1, n=45) and * with nephrotic range proteinuria (group 2, n=21) in IgA nephropathy who were admitted to Seoul National University Children’s Hospital during the period from January, 1980 to December, 1989. The results of the study were as follows. 1) Age of onset and sex ratio were not different between the...
A Clinical Study on the Posterior Subcapsular Cataracts in Childhood Nephrotic Syndrome.
Dong Kyu Jin, Ja Wook Koo, Hae Il Cheong, Yong Choi, Kwang Wook Ko, Jong Hoon Lee, Young Suk Yu
Clin Exp Pediatr. 1990;33(8):1097-1103.   Published online August 31, 1990
A clinical study was carried out in 73 children with nephrotic syndrome who had had regular ophthalmologic examination annually at Seoul National University Children’s Hospital from March 1976 to February 1990 with the aim of finding the relationship between the posterior subcapsular cataract (PSC) and the effect of corticosteroids. The results were summarized as follows: 1) The number of patients with PSC were 23 cases...
Recombinant Human Erythropoietin Therapy in Anemia Accompanied by Chronic Renal Failure.
Dong Kyu Jin, Hae Il Cheong, Yong Choi, Kwang Wook Ko
Clin Exp Pediatr. 1990;33(7):970-976.   Published online July 31, 1990
A clinical study was carried out to evaluate the efficacies of rHuEPO (recombinant human erythropoietin) in anemia of 7 chronic renal failure patients under dialysis at Seoul National University Children's Hospital from Feb. 1989 to Nov. 1989. The results were as follows; - 1) There was progressive increase of hematocrit levels in all 6 hemodialysis patients and mainte- nance dosage of rHuEPO to sustain hemoglobin...
Hypophosphatemic Rickets.
Kyung Mo Kim, Seong Hoon Ha, Dong Kyu Jin, Kwang Wook Ko
Clin Exp Pediatr. 1990;33(4):437-447.   Published online April 30, 1990
Seventeen patients who were diagnosed as primary hypophosphatemic rickets at Department of Pediatrics, Seoul National University Children’s Hospital were analyzed to assess its clinical aspect and effect of treatment, especially on height and growth velosity. The average age of onset was 2 years, and their chief complaints were bowleg and short stature. Sex ratio was l.l:l(male: female). Familial hypophoshatemic rickets was known as X-linked...
A Clinical Study of Staphylococcus Aureus Infection in Children.
Yong Joon Shin, Young Pyo Chang, Dong Kyu Jin, Byung Kiu Park, Hoan Jong Lee, Hyung Ro Moon
Clin Exp Pediatr. 1990;33(1):35-41.   Published online January 31, 1990
We reviewed 113 patients with Staphylococcus aureus infection and 219 strains of Staphylococcus aureus isolated from pediatric patients of Seoul National University Hospital from Jan. 1, 1987 to Dec. 31, 1987. The results were as follows: 1) The proportion of MSSA was 50.2% of total Staphylococcus aureus isolated and that of MRSA was 49.8%. Staphylococcus aureus were isolated from pus (33.8%), urine (16.9%), ear discharge (8. 2%),...
Continuous Arteriovenous Hemofiltration in Children.
Hae Il Cheong, Dong Kyu Jin, Young Seo park, Yong Choi, Kwang Wook Ko
Clin Exp Pediatr. 1989;32(2):230-238.   Published online February 28, 1989
Among those who were admitted to the Pediatric Intensive Care Unit (PICU), Seoul National University Children’s Hospital and developed acute renal failure (ARF) during the disease course, 11 children received continuous arteriovenous hemofiltration (CAVH) by pediatricians during a 3-year- period from Nov. 85 to Oct. 88. Their clinical findings were analyzed retrospectively, and the results were as follows; 1) They were 5 boys and 6...
A Case of Familial Dysautonomia.
Hong Jin Lee, Dong Kyu Jin, Sei Won Yang, Jeong Kee Seo, Hyung Ro Moon, Je Geun Chi
Clin Exp Pediatr. 1988;31(5):648-654.   Published online May 31, 1988
Few documented cases of Familial dysautonomia fulfilling current diagnostic criteria have been recognized in non-Jews especially in orientals. In our case diagnosis was established in 8 year old Korean girl. She fulfilled 8 out of 9 essential diagnostic criteria of Riley. It represents a report of this syndrome with achalasia and improved with modified Heller’s myotomy.
Burkitt Lymphoma in Children.
Soo Jong Hong, Dong Kyu Jin, Hee Young Shin, Hyo Seop Ahn, Chang Yee Hong, Je G Chi
Clin Exp Pediatr. 1988;31(4):482-491.   Published online April 30, 1988
Seventeen cases of Burkitt lymphoma under 15 years of age who were admitted to Dept, of Ped., Seoul National University Hospital from Jan. 1979 to Dec. 1986 were reviewed and analysed. One hundred and six cases of non-Hodgkin lymphoma were seen during the same period. 1) Burkitt lymphoma accounted for 16% of non-Hodgkin lymphoma. 2) The age ranged from 10/12 year to 15 5/12 years, with...
Acute Tumor Lysis Syndrome in Burkitt Lymphoma.
Dong Kyu Jin, Soo Jong Hong, Il Soo Ha, Hyo Seop Ahn, Yong Choi, Chang Yee Hong
Clin Exp Pediatr. 1988;31(3):362-369.   Published online March 31, 1988
To assess the tumor lysis syndrome in Burkitt lymphoma, we analyzed the clinical and laboratory findings of 17 patients with Burkitt lymphoma who were admitted to the Department of Pediatrics, Seoul National University Hospital from January 1979 to December 1986. The acute tumor lysis syndrome was diagnosed when two of the five following metabolic abnormal- ities were met: ① hyperuricemia (≥8.0mg/dl), ② hyperphosphatemia (≥5.5 mg/dl),...