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Case Report
Genetics and Metabolism
A nonsense PAX6 mutation in a family with congenital aniridia
Kyoung Hee Han, Hye Jin Lee, Il-Soo Ha, Hee Gyung Kang, Hae Il Cheong
Clin Exp Pediatr. 2016;59(Suppl 1):S1-S4.   Published online November 30, 2016

Congenital aniridia is a rare ocular malformation that presents with severe hypoplasia of the iris and various ocular manifestations. Most cases of congenital aniridia are known to be related to mutations in the paired box gene-6 (PAX6), which is an essential gene in eye development. Herein, we report a familial case of autosomal dominant congenital aniridia with four affected members...

A case of hemolytic uremic syndrome preceded by intussusception
Eun Young Ko, Joo Young Kim, Hye Jin Lee, Hyun Seung Lee, Ji Whan Han, Young Hoon Kim, Jin Tack Kim, Hae Il Cheong, Pil Sang Jang
Clin Exp Pediatr. 2011;54(4):176-178.   Published online April 30, 2011

Hemolytic-uremic syndrome (HUS) is the most common cause of acute renal failure in young children. It is classically characterized by the triad of microangiopathic hemolytic anemia, thrombocytopenia, and uremia. Further, not only is intussusception one of the differential diagnoses of HUS but it may also become a complication during disease progression. We report a case of HUS preceded by intussusception...

Original Article
Utility of polymerase chain reaction(PCR) according to sampling time in CSF and stool specimens from patient with aseptic meningitis
Myo Jing Kim, Hye Jin Lee, Jung Mi Choi, Soo Jin Jung, Jae Won Huh
Clin Exp Pediatr. 2006;49(7):745-750.   Published online July 15, 2006
Purpose : Enteroviruses are the most common cause of aseptic meningitis in patients of all ages. A definite diagnosis of enteroviral meningitis can be established by detection of virus directly in CSF specimens. But this is time-consuming and lacks sensitivity, so polymerase chain reaction(PCR) detecting of viral RNA in patient specimens such as CSF, stool has been demonstrated. But little...
Outbreak of Acinetobacter septicemia in a neonatal intensive care unit
Myo Jing Kim, Hye Jin Lee, Sang Hee Son, Jae Won Huh
Clin Exp Pediatr. 2006;49(5):494-499.   Published online May 15, 2006
Purpose : Acinetobacter baumannii is increasingly recognized as an important cause of nosocomial infection, especially in neonatal intensive care units. But little is known about the clinical significance and hospital epidemiology of Acinetobacter species other than A. baumannii. The objective of this study is to describe the clinical characteristics and epidemiology of septicemia due to Acinetobacter species other than A....
Factors which contribute to time of first stool and first urine passage in Newborns
Hye Jin Lee, Hyun Gon Jae, Sang Hee Son
Clin Exp Pediatr. 2006;49(5):482-488.   Published online May 15, 2006
Purpose : To evaluate the factors which contribute to the time of the first stool and the first urine passage. Methods : We retrospectively reviewed a chart of 1,221 infants ≥34 weeks of gestational age admitted to the normal newborn nursery of Il Sin Christian Hospital, Busan, from November 2004 to April 2005. We compared the time to first stool and...
Case Report
A Case of Intestinal Perforation in Henoch-Sch nlein Purpura
Won Sik Kang, Chang Hwan Oh, Jae Young Kim, Young Taek Lee, Hye Jin Lee, Hee Jin Kim, Sung Won Kim
Clin Exp Pediatr. 2002;45(3):406-412.   Published online March 15, 2002
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,...
Original Article
Evaluation of Pulmonary Function Test by Pneumotachography and Passive Expiratory Flow-volume Technique in Newborns with Respiratory Diseases with Respiratory Diseases
Hye Jin Lee, Kyung Hyo Kim, Gyoung Hee Kim
Clin Exp Pediatr. 1996;39(4):482-490.   Published online April 15, 1996
Purpose : Pulmonary function test is an important diagnostic tool in neonatal intensive care. These tests provide a detailed assessment an infant's pulmonary status that can be used in several ways: to monitor the progression of lung disease, to streamline ventilator management, and to assess the infant's response to new treatments, such as surfactant replacement therapy or bronchodilator. The purpose...
Case Report
A Case of Meckel-Gruber Syndrome
Hye Jin Lee, Eun Ae Park, Gyoung Hee Kim
Clin Exp Pediatr. 1995;38(9):1299-1303.   Published online September 15, 1995
We report a case of male neonate that showed multiple congenital anomalies that could be designated as Meckel-Gruber syndrome. The principle signs of Meckel-Gruber syndrome are encephaolcelem, polydactly, and polycystic kidneys with normal karyotype. Due to rarity of the Meckel-Gruber syndrome, the cause was still unknown. At present, autosomal recessive is thought to be as one of the causes. This malformation...
Original Article
Clinical Observation for Low Birth Weight Infants
Hye Jin Lee, Soon Wan Kwon, Soon Ok Byun, Ji Sub Oh
Clin Exp Pediatr. 1993;36(7):928-935.   Published online July 15, 1993
Clinical observations were made on 338 low birth weight infants, who were delivered at Pusan Wallace Memorial Baptist Hospital, during the 3 year periods from 1989 to 1991. The results were as follows; 1) The incidence of LBWI was 5.6% and sex ratio was 1:1.09. Among them AGA was 62.7%. 2) Of all infants, 47.3% were in the birth weight range of 2251-2500...
Case Report
Two Cases of Pseudolhypoparathyroidism in Sibling
Sun Whan Kwon, Hye Jin Lee, Seon Young Choi, Un Ki Yoon
Clin Exp Pediatr. 1993;36(6):882-887.   Published online June 15, 1993
Pseudohypoparathyroidism is a medical disorder characterized by a complex disorder of renal resistance to parathyroid hormone and the mechanism underlying the disease is still unclear. The autors described two cases of Pseudohypoparathyroidism in sibling, who had metabolic anomalies(hypocalcemia and hyperphosphatemia, high circulating immunoreactive PTH) and basal ganglia calcification. Bilateral basa ganglia calcifications, which was not visible on plain skull fim, was...
Original Article
A Study of Serum and Spinal Fluid Enzyme Such as CPK and LDH as Predictors of Neurologic Disability Following Perinatal Asphyxia
Min Hye Kim, Hye Jin Lee, Gyoung Hee Kim
Clin Exp Pediatr. 1993;36(5):664-670.   Published online May 15, 1993
Perinatal asphyxia is an insult to fetus or newborn due to lack of oxygen or perfusion to various organsm especially to brain, resulting in the important complication known as hypoxic inchemic encephalopathy. A clinical study was conducted on 30 newborns with perinatal asphyxia, who were admitted to Pediatric department of Ewha Women's University Hospital during 19 months period from Sep. 1990...
A case of a variant of Pierre Robin syndrome -cerebrocostomandibular syndrome-.
Hye Jin Lee, Eun Jin Mun, Ock Seung Jeong, Son Sang Seo, Jeong Ja Kang
Clin Exp Pediatr. 1991;34(7):1022-1028.   Published online July 31, 1991
We experienced a case of cerebrocostomandibular syndrome in newborn consisted of costal deficiency, and micrognathia. It is a variant of Pierre Robin syndrome, and cleft palate and glossoptosis are frequently present. Respiratory difficulty due to rib dysplasia result in poor prognosis for survival. Brief review of literature was made.
A Clinical Study on Neonatal Polycythemia.
Gyu Ja Jeong, Hye Jin Lee, Yaung Sook Choi, Son Sang Seo
Clin Exp Pediatr. 1990;33(11):1495-1502.   Published online November 30, 1990
We observed 34 cases of newborn, who were diagnosed as having polycythemia, out of 3,312 newborns who were admitted to our nursery between January 1, 1989 and December 31, 1987. The following results were obtained; 1) The incidence of neonatal polycythemia was 1% and male to female ratio was 1.8:1. The birth weight of 2000 g to 2500 g was the most common (35.3%). 2) Gestational age...
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