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Case Report
A Case of 18 Ring Chromosome
Joong Hyun Bin, Moon Young Song, In Goo Lee, Won Bae Lee, Byung Churl Lee
Clin Exp Pediatr. 2001;44(6):683-686.   Published online June 15, 2001
A ring 18 chromosome(18r) karyotype is a rare disorder characterized by short stature, obesity, microcephaly, mental retardation, micropenis, cryptorchidism, hypertelorism, epicanthal folds, micrognathia, and small hands with short tapering fingers. A 22-month-old girl was referred to our department of pediatrics because of ptosis and delayed development. Karyotype revealed ring 18 and dicentric ring 18 chromosome(46,XX,r(18)[45]/45,XX,-18[7]/46,XX,dic r(18)[3]). Fluorescent in situ hybridization...
Original Article
Neonatal Cord Blood Leptin : Its Relationship to Birth Weight
Byung Churl Lee, In Kyung Sung, Byung Kyu Suh, Moon Young Song
Clin Exp Pediatr. 1999;42(5):637-643.   Published online May 15, 1999
Purpose : The purpose of this study was to correlate birth weight, skinfold thickness, gestational age, BMI and ponderal index of neonates and maternal status with cord serum leptin concentration. Methods : Sixty newborns were enrolled in this study. Standard growth curves were used to categorize infants as appropriate(AGA), large(LGA), or small for gestational age(SGA). Gestational age, birth weight, length, skinfold...
Serum Leptin Levels in Children with Obesity
Byung Churl Lee, Moon Young Song, Byung Kyu Suh
Clin Exp Pediatr. 1998;41(6):785-790.   Published online June 15, 1998
Purpose : The identification of the ob gene and its adipocyte-specific protein leptin has provided the first physiologic links to the regulatory system controlling body weight. In adults, elevations of serum leptin concentrations correlated closely with the percentage of body fat. This study investigated whether leptin concentrations were elevated in obese children, and the relationship between leptin concentrations and gender and pubertal stage. Methods :...
Case Report
A Case of von Gierke Disease
Young A Joe, Moon Young Song, Bin Cho, Soon Ju Lee, In Kyung Sung, Kyong Su Lee
Clin Exp Pediatr. 1997;40(12):1756-1760.   Published online December 15, 1997
von Gierke disease(type Ia glycogen storage disease) is an inherited disease associated with accumulation of glycogen in the liver, kidney, intestine and erythrocytes due to the defect of glucose-6-phosphatase activity. Hepatomegaly, doll face, anemia, bleeding tendency and increased susceptability to infection are common features observed during infancy. Hypoglycemia especially fasting hypoglycemia is typical metabolic derangement in this disease, followed by metabolic acidosis, lactic acidemia, hyperlipidemia, hyperuricemia,...
Original Article
Clinical Study of Graves` Diseasein Children : Remission and Relaps
Moon Young Song, Bin Cho, Byung Churl Lee
Clin Exp Pediatr. 1996;39(3):389-396.   Published online March 15, 1996
Purpose : This study was carried out to evaluate the age and sex distribution, clinical manifestation, presence of the antithyroid antibody, the clinical outcome following antithyroid drug treatment in children with Graves' disease. Methods : A total 45 children with Graves' disease were entered into the study. Diagnosis was based on clinical manifestation, elevated thyroid function and increased homogeneous 99mTc thyroid...
Case Report
A Case of Eosinophilic Gastroenteritis
Moon Young Song, Jong Wan Kim, Joon Sung Lee
Clin Exp Pediatr. 1994;37(10):1457-1462.   Published online October 15, 1994
Eosinophilic gastroenteritis is a rare disorder of unknown etiology characterized by protein losing enteropathy, peripheral eosinophilia and iron deficiency anemia secondary to gastrointestinal blood loss. It is often accompanied by signs of systemic allergy. This case of a 26-month-old male patient who developed scrotal edema and diarrhea for a month had peripheral eosinophilia ranged from 24 to 32% of total leukocyte,...
A Case of Rhizomelic Chondrodysplasia Punctata
Yeon Dong Lee, Moon Young Song, Hyun Hi Kim, Seunghoon Han, Wonbae Lee
Clin Exp Pediatr. 1994;37(9):1312-1316.   Published online September 15, 1994
Chondrodysplasia punctata is a rare congenital disorder of bone, occuring in infants, which is characterized by raiographic manifestation of premature deposition of punctate calcific densitiy in epiphyseal areas, preformed in carilage. We experienced a case of rhizomelic type-chondrodysplsia punctata in a two day old female who showed short stature, symmetric shortening of proximal limbs, cataract, icthyositic skin lesion and characteristic coronal...