- Original Article
- Direct detection of hemophilia B F9 gene mutation using
multiplex PCR and conformation sensitive gel electrophoresis
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Ki Young Yoo, Hee Jin Kim, Kwang Chul Lee
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Clin Exp Pediatr. 2010;53(3):397-407. Published online March 15, 2010
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Purpose : The F9 gene is known to be the causative gene for hemophilia B, but unfortunately the detection rate for restriction fragment length polymorphism-based linkage analysis is only 55.6%. Direct DNA sequencing can detect 98% of mutations, but this alternative procedure is very costly. Here, we conducted multiplex polymerase chain reactions (PCRs) and conformation sensitive gel electrophoresis (CSGE) to... |
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- Drug resistance of Mycobacterium tuberculosis in children
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Soo Jin Lee, Young Min Ahn, Hee Jin Kim
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Clin Exp Pediatr. 2009;52(1):61-67. Published online January 15, 2009
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Purpose : The rate of drug-resistant tuberculosis (DR-TB) in children is an indicator of the effectiveness of TB control programs in the community. This study aimed to assess the prevalence of DR-TB in children and evaluate TB management.
Methods : Between January 1999 and July 2007, drug susceptibility tests for anti-TB drugs were employed for patients aged less than 19... |
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- Case Report
- A Case of Intestinal Perforation in Henoch-Sch nlein Purpura
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Won Sik Kang, Chang Hwan Oh, Jae Young Kim, Young Taek Lee, Hye Jin Lee, Hee Jin Kim, Sung Won Kim
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Clin Exp Pediatr. 2002;45(3):406-412. Published online March 15, 2002
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Henoch-Sch nlein purpura(HSP) is one of the most common vasculitic diseases of childhood, referred to as a leukocytoclastic vasculitis affecting small vessels. Although HSP related gastrointestinal symptoms are seen in up to 80% of patients during acute illness, these symptoms are usually transient. However, some patients with HSP have gastrointestinal major surgical complications such as intussusception, bowel infarction, necrosis, stricture,... |
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- Morquio's Syndrome Accompanied by Respiratory Failure
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Jun Hur, Hyeon Jeong Lee, Jeong Hwa Whang, Hee Jin Kim, Chan Yung Kim
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Clin Exp Pediatr. 1997;40(7):1015-1020. Published online July 15, 1997
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Authors experienced a case of Morquio’s syndrome accompanied by respiratory failure
in a aged fifteen year old boy. Patient showed normal intelligence, but stunted growth with
short trunk and unproportionately large head, pectus carinatum, kyposcoliosis, muscular
weakness, paralysis and genu valgum. No other member of family was affected with this
syndrome.
There were radiological findings of subluxation between first and second cervical
vertevrae, central beaking with... |
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- Two Cases of Familial β-Thalassemia Minor
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Jeong Hwa Hwang, Hyeon Jeong Lee, Jun Hur, Gae Soon Yeo, Hee Jin Kim, Chan Yung Kim, Tae Jun Yun
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Clin Exp Pediatr. 1995;38(6):867-871. Published online June 15, 1995
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The β-thalassemia minor is a hereditary microcytic, hypochromic anemia characterized by decerased producion of β-globin polypeptide chain. The β-thalassemia minor should be clinically differentiated from iron deficiency anemia.
The thalassemia are common in the Medeterranean region, the Middle Ease, the Africa, Indea, and Thailand, but rare in Korea.
The authors experienced two cases of familial β-thalassemia minor 4-year 7-month-old female patient and... |
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- A Case of Congenitial Pyloric Atresia
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Hyeon Jeong Lee, Jun Hoe, Jeong Hwa Whang, Gae Soon Yeo, Hee Jin Kim, Chan Yung Kim, Jun Hyeon Kim
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Clin Exp Pediatr. 1995;38(12):1713-1717. Published online December 15, 1995
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In the newborn, a complete occlusion of the pyloric outlet is an extremely rare event. Authors experienced a case of pyloric atresia in a 2-day old boy, Who was admitted because of nonbilious vomiting. The plain radiograph of the abdomen showed gas in the huge stomach, but no gas noted distally.
At operation, 3 days after birth, the pylorus was atretic... |
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- Original Article
- Clinical Significance of Selectivity Index in Nephrotic Syndrome.
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Hoan Jong Lee, Hee Jin Kim, Yong Choi, Kwang Wook Ko
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Clin Exp Pediatr. 1984;27(1):68-73. Published online January 31, 1984
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Slectivity I nd ices (CIgG/Ctransf erri n) of 114 nephrotic children, who were admitted to the Pediatric ward of SNUH from January, 1979 to December 1982, were, analyzed in relation to pathology, response to steroid treatment and the variability in the individual patients. In Summary 1)83% of MPGN, and 74% of FSGS showed S.I of more than 0.2 while 36%... |
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