- Case Report
- A case of Bickerstaff's brainstem encephalitis in childhood
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Ji Youn Kim, Young Ok Kim, Young Jun Son, Young Jong Woo
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Clin Exp Pediatr. 2010;53(4):607-611. Published online April 15, 2010
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Bickerstaff's brainstem encephalitis (BBE) is a rare disease diagnosed by specific clinical features such as 'progressive, relatively symmetric external ophthalmoplegia and ataxia by 4 weeks' and 'disturbance of consciousness or hyperreflexia' after the exclusion of other diseases involving the brain stem. Anti-ganglioside antibodies (GM, GD and GQ) in the serum or cerebrospinal fluid (CSF) are sometimes informative for the diagnosis... |
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- An Arg1239His mutation of the CACNL1A3 gene in a Korean family
with hypokalemic periodic paralysis
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Chae Young Yeo, Young Ok Kim, Myeong Kyu Kim, Ji Youn Kim, Young Kuk Cho, Chan Jong Kim, Young Jong Woo
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Clin Exp Pediatr. 2008;51(7):771-774. Published online July 15, 2008
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Familial hypokalemic periodic paralysis (hypoPP) is a rare inherited channelopathy that often presents with episodic weakness accompanied by hypokalemia. Thus far, mutations in the gene encoding two ion channels (CACNL1A3, L-type calcium channel alpha-1 subunit and SCN4A, a sodium channel type IV alpha subunit) have been identified. Several cases of familial hypoPP in children have been reported in Koreans, but... |
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- A case of megalencephalic leukoencephalopathy with subcortical cysts
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Eun Young Park, Young Ok Kim, Ji Youn Kim, Chae Young Yeo, Hee Jo Baek, Chan Jong Kim, Eun Young Kim, Young Jong Woo
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Clin Exp Pediatr. 2008;51(12):1342-1345. Published online December 15, 2008
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Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare white matter disorder, first described in the early 1990s. The brain in patients with MLC appears swollen on MRI, with diffuse white matter abnormalities; in addition, there is an invariable presence of subcortical cysts, primarily in the anterior temporal region sparing the deep white matter, basal ganglia, thalami, and cerebellum. Patients... |
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- Costello syndrome: three sporadic cases
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Ji Youn Kim, Mi Jeong Kim, Eun Song Song, Young Kuk Cho, Young Youn Choi, Jae Sook Ma
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Clin Exp Pediatr. 2007;50(10):1024-1029. Published online October 15, 2007
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Costello syndrome (CS) is a rare multiple congenital abnormality syndrome characterized by a typical coarse face, developmental delay, psychomotor and growth retardation, neurologic abnormalities, cardiac and cutaneous anomalies, severe feeding difficulties with postnatal growth failure, and increased risk of tumors. Since Costello first described it in 1971 and again in 1977, over 100 cases have been reported worldwide. It was... |
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- Original Article
- Influences of the Intrapulmonary R→L Shunt on PaO2 and PaCO2 after Instillation of Exogenous Pulmonary Surfactant to Premature Neonates with Respiratory Distress Syndrome
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Yoon Hyung Park, Sei Woo Chung, Seung Baik Han, Young Se Kwon, Ji Youn Kim, Woo Sik Cheong, Dae Hyun Lim, Byong Kwan Son
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Clin Exp Pediatr. 1997;40(11):1508-1519. Published online November 15, 1997
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Purpose : We are inclined to analyze the relationship between the intrapulmonary
right-to-left shunt and the PaO2/PaCO2 after endotracheal single-dose surfactant instillation
to premature neonates with respiratory distress syndrome within 6 hours after
birth.
Methods : From Jan. 1993 to Jun. 1995, we have conducted a clinical trial of surfactant
replacement therapy to the premature neonates with respiratory distress syndrome at
the neonatal intensive care unit... |
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