- Case Report
- A case of Becker muscular dystrophy with early manifestation of cardiomyopathy
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Ki Hyun Doo, Hye Won Ryu, Seung Soo Kim, Byung Chan Lim, Hui Hwang, Ki Joong Kim, Yong Seung Hwang, Jong-Hee Chae
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Clin Exp Pediatr. 2012;55(9):350-353. Published online September 14, 2012
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An 18-year-old boy was admitted with chest discomfort, nausea, and dyspnea at rest. At the age of 3 years, he underwent muscle biopsy and dystrophin gene analysis owing to an enlarged calf muscle and elevated serum kinase level (6,378 U/L) without overt weakness; based on the results, Becker muscular dystrophy (BMD) was diagnosed. The dystrophin gene showed deletion of exons... |
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- A case of isodicentric chromosome 15 presented with epilepsy and developmental delay
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Jon Soo Kim, Jinyu Park, Byung-Joo Min, Sun Kyung Oh, Jin Sun Choi, Mi Jung Woo, Jong-Hee Chae, Ki Joong Kim, Yong Seung Hwang, Byung Chan Lim
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Clin Exp Pediatr. 2012;55(12):487-490. Published online December 20, 2012
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We report a case of isodicentric chromosome 15 (idic(15) chromosome), the presence of which resulted in uncontrolled seizures, including epileptic spasms, tonic seizures, and global developmental delay. A 10-month-old female infant was referred to our pediatric neurology clinic because of uncontrolled seizures and global developmental delay. She had generalized tonic-clonic seizures since 7 months of age. At referral, she could... |
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- A case of Rubinstein-Taybi Syndrome with a CREB-binding protein gene mutation
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Se Hee Kim, Byung Chan Lim, Jong Hee Chae, Ki Joong Kim, Yong Seung Hwang
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Clin Exp Pediatr. 2010;53(6):718-721. Published online June 23, 2010
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Rubinstein-Taybi syndrome (RTS) is a congenital disorder characterized by typical facial features, broad thumbs and toes, with mental retardation. Additionally, tumors, keloids and various congenital anomalies including congenital heart defects have been reported in RTS patients. In about 50% of the patients, mutations in the CREB binding protein (CREBBP) have been found, which are understood to be associated with cell... |
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- A case of Menkes disease with unusual hepatomegaly
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Go Un Jeong, Anna Cho, Hee Hwang, Yong Seung Hwang, Ki Joong Kim, Jong Hee Chae, Jeong Kee Seo
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Clin Exp Pediatr. 2008;51(5):538-541. Published online May 15, 2008
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Menkes disease is an X-linked recessive copper transport disorder characterized by neurological deterioration, connective- tissue damage, and abnormal hair growth. It is caused by the mutation of the ATP7A gene. This report describes a four- month-old boy with neurological symptoms typical of Menkes disease plus unusual liver involvement. He developed seizures at three months of age and exhibited hypotonia, cephalhematoma,... |
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- Original Article
- Diagnostic classification and clinical aspects of floppy infants in the neonatal and pediatric intensive care units
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Eun Sun Kim, Kyung Eun Jung, Sang Duk Kim, Eo Kyung Kim, Jong Hee Chae, Han Suk Kim, June Dong Park, Ki Joong Kim, Beyong Il Kim, Yong Seung Hwang, Jung-Hwan Choi
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Clin Exp Pediatr. 2006;49(11):1158-1166. Published online November 15, 2006
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Purpose : The purpose of this study is to make a diagnostic classification and discuss a diagnostic strategy of floppy infants by investigating clinical, neurological, electrophysiological, and genetic analysis of infants admitted to intensive care units with the complaint of hypotonia.
Methods : A retrospective study was performed from Jan. 1993 to Dec. 2005 in neonatal and pediatric intensive care units... |
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- Analysis of Treatment in Pediatric Germ Cell Tumor
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Young Dai Kim, Su Hyun Kim, Ki Joong Kim, Ho Joon Im, Hahng Lee
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Clin Exp Pediatr. 2002;45(1):103-108. Published online January 15, 2002
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Purpose : This report is an analysis of our experience with surgery, multi-agent chemotherapy
and radiotherapy, in pediatric germ cell tumors(GCTs).
Methods : This report included all children(age < 15 years) who were registered between November
1985 and May 2001 with a histologically confirmed diagnosis of GCT and received surgery,
chemotherapy and radiotherapy. Retrospective analysis of the medical records of these patients
was performed. In... |
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- Original Article
- A Clinical Study on Varicella zoster Virus Infection, Relating
Factors and Treatment in Pediatric Cancer Patients
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Yoon Sook Chung, Su Hyun Kim, Ki Joong Kim, Hahng Lee
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Clin Exp Pediatr. 2001;44(11):1289-1294. Published online November 15, 2001
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Purpose : We performed this study to contribute to the prevention and treatment of Varicella zoster virus infection in pediatric cancer patients through understanding of VZV infection, acyclovir efficacy and varicella vaccination.
Methods : A retrospective study was performed by reviewing chart from January 1988 to January 2001.
Results : The diseases among 19 cases were leukemia. 12 cases were solid... |
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- Factors Related to the Outcome of Neonatal Seizures
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Sung Koo Kim, Ran Lee, In Kyu Lee, Ki Joong Kim, Young Seung Hwang
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Clin Exp Pediatr. 2000;43(2):267-273. Published online February 15, 2000
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Purpose : Seizures during the neonatal period may be an important indicator of serious neurologic abnormalities and can cause permanent neurologic sequelae. We attempted to find and analyze the factors related to the outcome of neonatal seizures.
Methods : Seventy-six newborns with seizure were reviewed. The outcomes were analyzed according to etiologic diseases, gestational ages, characteristics of seizure, and neuroimaging and... |
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- Seizure Types and EEG Findings of Juvenile Onset Idiopathic Generalized Epilepsy
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Hyunmi Kim, Won Seop Kim, Jong Shin Kim, Kangho Cho, Ki Joong Kim, Yong Seung Hwang
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Clin Exp Pediatr. 1997;40(7):991-998. Published online July 15, 1997
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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.... |
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- Clinical Study of Symptoms and Various Anomalies of Patients with Joubert Syndrome
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Hang Bo Jeong, Se Hee Hwang, Ki Joong Kim, Yong Seung Hwang, Seung Cheol Kim, In-One Kim
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Clin Exp Pediatr. 1997;40(3):385-392. Published online March 15, 1997
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Purpose : Joubert syndrome is known tobean autosomal recessive disorder characterized
by cerebellar vermian dysgenesis with many symptoms and variety of other
malformations. We studied the relevant symptoms and various malformations of seven
patients diagnosed as Joubert syndrome at our institution.
Methods : Seven children with cerebellarvermian dysgenesis consistent with Joubert
syndrome were included in ourstudy. Each child was diagnosed at the Seoul National
University Children's... |
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- Case Report
- Nutcracker Syndrome: Report of A Case
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Ki Joong Kim, Bu Heon Lee, In Cheol Park, Kwang Woo Ko, In One Kim
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Clin Exp Pediatr. 1995;38(11):1588-1592. Published online November 15, 1995
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The Nutcracker syndrome refers to compression of the left renal vein between the aorta and the superior mesenteric artery, associated with hematuria, abdominal pain, and varicocele formation.
We report a 13-year-old boy with intermittent gross hematuria for 14 months before admission. Ultrasonography shows narrowing of proximal left renal- vein and dilatation of distal left renal vein at the point of superior... |
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- Original Article
- Neurologic Complications after Open-Heart Surgery in Children
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Tae Sung Ko, Ki Joong Kim, Dong Wook Kim, Yong Seung Hwang, Yong Jin Kim, Joon Ryang Rho
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Clin Exp Pediatr. 1993;36(9):1245-1257. Published online September 15, 1993
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Neurologic complications after open-heart surgery are not only relatively common but also often fatal. In order to know the clinical characteristics and carsative risk factors, we carried out the retrospective study on 655 patients who had been admitted and undergone OHS at Seoul National University Children's Hospital during 2-year period from July 1990 to June 1992. The results... |
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- The Effectf Zonisamide in Children with Refractory Epilepsies
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Ki Joong Kim, Soo Ahn Chae, Tae Sung Ko, Dong Wook Kim, Yong Seung Hwang
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Clin Exp Pediatr. 1993;36(8):1139-1145. Published online August 15, 1993
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Zonisamide was amministered to 20 patients with refractory epileptic seizures. The mean duration of the administration was 6 months, and the mean dosage was 7.2mg/kg/day. The efficacy of zonisamide was rated remarkable in 15% of the cases, improvement in 40%, and no change in 45%.
The response rates of zonisamide were 62.5% for myoclonic seizures, 50% for tonic-clonic seizures, 80% for... |
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- Clinical Significance of Rheumatoid Factor in Juvenile Rheumatoid Arthritis
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Ki Joong Kim, Bo Young Yun, Joong Gon Kim
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Clin Exp Pediatr. 1992;35(5):639-645. Published online May 15, 1992
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Rheumatoid factor is a commonly used laboratory test by clinicians to assess the children with possible juvenile rheumatoid arthritis. To assess its diagnositc value and clinical significance we reviewed the case histories of the patients in whom latex agglutinating rheumatoid factor was tested during November 1988 to April 1991 at Seoul National University Children's Hospital. There were 61 patients with... |
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- A Clinical Study on Duchenne Muscular Dystrophy
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Moon Sun Yang, Su Ahn Chae, Ki Joong Kim, Yong Seung Hwang
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Clin Exp Pediatr. 1992;35(5):652-658. Published online May 15, 1992
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Twenty-five cases of Duchenne muscular dystrophy(DMD) who were diagnosed in the department of pediatrics, Seoul national university hospital (from Jan. 1985 to June 1991) were reviewed. The results were as follows.
1) All of the patients were male.
2) The onset of symptoms was between two and eight years of age. The peak incidence was at four years of age.
3) Chief complaints... |
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- A Case of MELAS Syndrome.
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Ki Joong Kim, Yong Seung Hwang, Young In Choi, Sung Hye Park, Je Geun Chi
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Clin Exp Pediatr. 1990;33(11):1586-1592. Published online November 30, 1990
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MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode)
syndrome is a rare but clinicopathologically distinctive mitochondrial disorder. We experienced a
case of MELAS syndrnmp in A 11 year-old girl who showed repeated attacks of stroke-like episodes,
vomitng, cortical blindness, hearing deficit and alternating hemiplegia. Serum lactic acid level was
elevated (6.4 mmol/Z). The diagnosis was confirmed by muscle biopsy which revealed dispersed
ragged-red fibers. |
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