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Case Report
Genetics and Metabolism
The first Korean case with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing
Eun Mi Choi, Dong Hyun Lee, Seok Jin Kang, Ye Jee Shim, Heung Sik Kim, Jun Sik Kim, Jong In Jeong, Jung-Sook Ha, Ja-Hyun Jang
Clin Exp Pediatr. 2018;61(12):403-406.   Published online September 16, 2018
Floating-Harbor syndrome is a rare autosomal dominant genetic disorder associated with SRCAP mutation. To date, approximately 50 cases of Floating-Harbor syndrome have been reported, but none have been reported in Korea yet. Floating-Harbor syndrome is characterized by delayed bony maturation, unique facial features, and language impairment. Here, we present a 6-year-old boy with a triangular face, deep-set protruding eyes, low-set...
Original Article
Assessment of parental understanding of epilepsy and effects of educational programs in an epilepsy camp
Sung Min Cho, Soon Hak Kwon, Doo Kwun Kim, Jun Sik Kim, Han Koo Moon, Hye-Eun Se, Kye Hyang Lee, Eun Ju Lee, Jun Hwa Lee, Nho Eun Kim
Clin Exp Pediatr. 2009;52(5):549-556.   Published online May 15, 2009
Purpose : To assess parental knowledge and understanding of epilepsy including social stigma and evaluate the effects of educational programs on parents in an epilepsy camp. Methods : We conducted an epilepsy camp on August 23-24, 2008, at Gyeongsan. Twenty families with an epileptic child each participated in the camp. We performed a survey before and after the camp to...
Change of absolute neutrophil count after intravenous immunoglobulin administration for the children with idiopathic thrombocytopenic purpura
Hyun Jung Shin, In Kug Bang, Byung Kyu Choe, Jin-Bok Hwang, Jun Sik Kim, Heung Sik Kim
Clin Exp Pediatr. 2007;50(10):982-986.   Published online October 15, 2007
Purpose : Intravenous immunoglobulin (IVIG) is effective for the treatment of idiopathic thrombocytopenic purpura (ITP) in children. Recently, several reports have been published that show its impact on the absolute neutrophil count. The present study was performed to confirm these findings. Methods : Data on 26 ITP patients were analyzed. Patients with febrile illness or increased C-reactive protein levels...
CNS Complications in Childhood Cancer
Yoo Jin Jeong, Yeon Kyong Seo, Seung Ah Hong, Heung Sik Kim, Jun Sik Kim, Hee Jung Lee
Clin Exp Pediatr. 2003;46(11):1112-1117.   Published online November 15, 2003
Purpose : Recent advances in the methods of treating cancer in young patients have led to both an increased frequency of CNS complications as well as prolonged life expectancy. We intend to analyze the clinical aspects and laboratory findings of patients with CNS complications during and after treatment. Methods : We reviewed the medical records of 174 childhood cancer...
The Significance of the Early Electroencephalographic Findings in Severely Asphyxiated Newborn Infants
Jong Uk Lee, Won Joung Choi, Chun Soo Kim, Sang Lak Lee, Jun Sik Kim
Clin Exp Pediatr. 2003;46(8):784-788.   Published online August 15, 2003
Purpose : Perinatal asphyxia occurring in newborn is one of the major causes of acute mortality and chronic neurological disability in survivors. We have studied the relationship between early electroencephalography(EEG) findings and clinical course and neurologic outcome in severe asphyxiated neonates. Methods : Between the period of July 1999 and June 2002, 25 neonates who were diagnosed with severe perinatal asphyxia(1-minute...
Case Report
A Case of Distal Renal Tubular Acidosis Associated with Medullary Sponge Kidney
Sung Jun Jang, Jo Yun Jung, Jun Sik Kim, Heung Sik Kim, Hee Jung Lee
Clin Exp Pediatr. 2001;44(1):89-93.   Published online January 15, 2001
Renal tubular acidosis is a clinical state of systemic hyperchloremic acidosis resulting from impaired urine acidification. Medullary sponge kidney is a renal parenchymal malformation characterized by cystic dilatation of the collecting ducts. Although medullary sponge kidney is a congenital disease, it is rarely identified in childhood and is usually discovered in adulthood. Medullary sponge kidney patients may have defects in...
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