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Original Article
Clinical characteristics of congenital myotonic dystrophy diagnosed by molecular genetic method
Sook Hyun Nam, Young Bae Son, Bo Lyun Lee, Jeehun Lee, Chang-seok Ki, Munhyang Lee
Clin Exp Pediatr. 2007;50(9):868-874.   Published online September 15, 2007
Purpose : We performed this study to investigate the perinatal and developmental features of the patients with congenital myotonic dystrophy (CDM) confirmed by the molecular genetic method and the clinical characteristics of their mother, and to identify the relation between the number of CTG repeats and the clinical severity. Methods : A retrospective review of the medical records and the results...
Clinical features and results of recent neonatal cardiac surgery - A review of 82 cases in one hospital
Ki Won Oh, Jung Ok Kim, Joon Yong Cho, Myung Chul Hyun, Sang Bum Lee
Clin Exp Pediatr. 2007;50(7):665-671.   Published online July 15, 2007
Purpose : The purpose of this study was to investigate the clinical features and outcome in newborns undergoing cardiac surgery. Methods : Eighty two neonates underwent heart surgery for congenital heart defect at Kyungpook National University Hospital between March 2000 and February 2006. Patient characteristics (sex, age, diagnosis), pre-operative conditions, operation type, postoperative complications and mortality were reviewed retrospectively. Results : In...
Evaluation of short-term cardiac function by tissue Doppler imaging in pre and postoperative period of congenital heart disease
Jun-Hwa Lee, Yeo-Hyang Kim, Myung-Chul Hyun, Sang-Bum Lee
Clin Exp Pediatr. 2007;50(5):476-483.   Published online May 15, 2007
Purpose : The objective of this study was to assess ventricular function by tissue Doppler imaging (TDI) in children with congenital heart disease (CHD) who have been undergoing open heart surgery (OHS) using cardiopulmonary bypass. We tried to compare the parameters of tissue Doppler imaging before and after OHS in patients with congenital heart disease. Methods : This study was conducted...
Case Report
A case of adrenocortical adenoma following long-term treatment in a patient with congenital adrenal hyperplasia
Seung Rim Lho, So Hyun Park, Min Ho Jung, Byung Churl Lee
Clin Exp Pediatr. 2007;50(3):302-305.   Published online March 15, 2007
As a result of the widespread use and enhanced quality of high-resolution radiological techniques, a recent report has revealed a relatively high prevalence of small adrenal tumors in patients with untreated congenital adrenal hyperplasia due to 21-hydroxylase deficiency. However, there are scarcely any pediatric cases of adrenocortical tumor following long-term treatment in patients suffering with congenital adrenal hyperplasia. We report...
Original Article
Impact of fetal diagnosis of congenital heart disease on parents
Eun Young Choi, Chang Hoon Lee, Myung Ja Yoon, Eun Sook Han, Joon Suk Hong, Yun Sook Jung, Jung Yun Choi
Clin Exp Pediatr. 2006;49(10):1073-1078.   Published online October 15, 2006
Purpose : This study was performed to assess how a fetal diagnosis of congenital heart disease affects parents, as regards pregnancy management and care of infants after birth. Methods : Database search to find out abnormal fetal echocardiography performed at Seoul National University Children's Hospital from July 1988 to June 2003 revealed 370 examinations. After excluding both arrhythmias without structural cardiac...
Analysis of newborn hearing screening using automated auditory brainstem response
Sung Won Park, Byung Ho Yun, Kyung Ah Kim, Sun Young Ko, Yeon Kyung Lee, Son Moon Shin, Sung Hwa Hong
Clin Exp Pediatr. 2006;49(10):1056-1060.   Published online October 15, 2006
Purpose : As hearing ability affects language and cognitive development, early detection and intervention of congenital hearing defects is very important. We analyzed the result of newborn hearing screening using automated auditory brainstem response and estimated the incidence of congenital hearing defects in newborn infants in Korea. Methods : Hearing screening tests were done on 7,218 newborn infants who were...
Frequency and clinical characteristics of prenatally diagnosed congenital hydronephrosis and outcomes of ureteropelvic junction stenosis
Hyun Soo Kang, June Seung Sung, Sun Hui Kim, Hee Jo Back, Young Ok Kim, Chan Jong Kim, Young Youn Choi, Tai Ju Hwang
Clin Exp Pediatr. 2006;49(8):870-874.   Published online August 15, 2006
Purpose : Popular use of fetal ultrasonography has increased to detect congenital hydronephrosis(CH) which is the most common anomaly prenatally detected. We'd like to determine the frequency and clinical characteristics of prenatally diagnosed CH and outcome of ureteropelvic junction stenosis(UPJS). Methods : The records of births between January 1994 and June 2003 in Chonnam National University Hospital(CNUH), and the records of...
Case Report
A case of multicystic dysplastic kidney and cystic adenomatoid malformation of the lung identified as incidental findings
Sun-Joo Lee, Ji-Hun Lee, Hyun-Hee Kim, So-Young Kim, Seung-Hoon Hahn, Ja-Young Hwang, Wonbae Lee
Clin Exp Pediatr. 2006;49(7):796-799.   Published online July 15, 2006
Multicystic dysplastic kidney and congenital cystic adenomatoid malformation of the lung are independent disorders, but both result from abnormal morphogenesis during embryogenesis. Congenital cystic adenomatoid malformation of the lung is associated with renal anomalies as well as other extrapulmonary anomalies and almost all cases with these anomalies are stillborn. We report a case of a 21-month-old male who was...
Original Article
Relationship between depression and resilience in adolescents with congenital heart disease
Ju Ryoung Moon, Yoen Yi Jung, June Huh, I-Seok Kang, Seung Woo Park, Ji-Hyuk Yang, Tae-Gook Jun, Myung Ja Kim, Heung Jae Lee
Clin Exp Pediatr. 2006;49(5):523-528.   Published online May 15, 2006
Purpose : The purpose of this study was to investigate the relationship between depression and resilience in adolescents with congenital heart disease(CHD) and to identify the variables associated with depression. Methods : The Resilience Scale(cronbach’s α=0.92), Children's Depression Inventory(cronbach’s α= 0.72) and Maternal Behavior Research Instrument(cronbach’s α=0.88) were applied and analyzed to assess depression and resilience among 231 adolescents after...
Case Report
Congenital central I42hypoventilation syndrome combined with Hirschsprung disease diagnosed in the neonatal period
Jin Hyun Choi, Jin Hee Oh, Jong-Hyun Kim, Dae Kyun Koh, Seung-Chul Hong
Clin Exp Pediatr. 2006;49(4):446-450.   Published online April 15, 2006
Congenital central hypoventilation syndrome (CCHS) or Ondine's curse is a very rare sleep disorder that is the result of a congenital failure of the autonomic control of ventilation caused by insensitivity of the chemoreceptor to hypercapnea during sleep. Gastrointestinal motility disorders, particularly a congenital megacolon (Hirschsprung disease) is often combined with CCHS. This combination can be explained by a defect...
Original Article
Outcome of pregnant mothers with systemic lupus erythematosus(focusing on congenital heart block)
Hey Sung Baek, Jae Hyung Choi, Nam Su Kim, Chang Ryul Kim, Su Ji Moon
Clin Exp Pediatr. 2006;49(4):381-387.   Published online April 15, 2006
Purpose : Neonatal lupus is characterized by congenital complete heart block(CCHB), cutaneous rash, and laboratory abnormalities in infants born to mothers with systemic lupus erythematosus(SLE). This study aims to examine the incidence of CCHB and clinical outcome in neonates born to mothers with SLE. Methods : The study group consisted of 49 neonates, born from 57 pregnancies of 55 women with...
Clinical features and surgical results of ruptured sinus of valsalva aneurysm
Tae Ho Lee, Dong Won Lee, Joon Yong Cho, Myung Chul Hyun, Sang Bum Lee
Clin Exp Pediatr. 2006;49(3):287-291.   Published online March 15, 2006
Purpose : Aneurysms of sinus valsalva are rare anormalies thought to be primarily congenital in origin, progressing into death by acute heart failure in cases of rupture. Surgical correction is the only method of treatment. With these clinical implications, we reviewed the clinical characteristics and surgical results of patients with ruptured sinus of valsalva aneurysm. Methods : Between January 1991...
Clinical Lecture
Hypothyroidism
Jong Duck Kim
Clin Exp Pediatr. 2005;48(8):779-805.   Published online August 15, 2005
Hypothyroidism is a deficiency in thyroid hormone secretion by the thyroid gland and a defect in thyroid hormonal receptor activity. It is categorized by the two major forms in children, the one is congenital hypothyroidism and the other is acquired hypothyroidism. Congenital hypothyroidism is one of the commonest treatable causes of mental retardation and occurs in 1 in 3,000-4,000 infants...
Case Report
A Case of Congenital Nephrogenic Diabetes Insipidus Confirmed by Gene Analysis
Eun Young Cho, Jin Hee Oh, Dae Kyun Koh
Clin Exp Pediatr. 2005;48(6):669-674.   Published online June 15, 2005
Nephrogenic diabetes insipidus (NDI) is a disorder in which the secretion of antidiuretic hormone is normal, but the response of the renal collecting tubules to vasopressin is impaired. Compared with acquired NDI (a-NDI), which is secondary to chronic bilateral incomplete urinary tract obstruction with hydronephrosis, congenital NDI (c-NDI) is a very rare heritable disorder that usually follows the X- linked...
A Case of Congenital Laryngeal Atresia with Single Umbilical Artery Who Required a Tracheotomy
Ho Sung Wi, Hey Sung Baek, Jae Won Oh, Myung-Kul Yum, Yong Joo Kim, Soo Jee Moon, Kyung Tae, Chang-Ryul Kim
Clin Exp Pediatr. 2005;48(5):557-560.   Published online May 15, 2005
Congenital laryngeal atresia is a rare cause of airway obstruction that is almost always lethal within a few minutes after birth. Therefore congenital laryngeal atresia should be diagnosed in the prenatal period. If not, it should be considered in newborn infant with life-threatening symptoms at birth such as cyanosis and dyspnea that need emergent procedures like a tracheotomy. We report...
Original Article
Reevaluation of the Neonatal Screening Test for Congenital Hypothyroidism
So Young Kang, Young Pyo Chang, Jeesuk Yu
Clin Exp Pediatr. 2005;48(4):387-394.   Published online April 15, 2005
Purpose : We performed this study to compare the TSH and free T4 levels according to gestational age and birth weight, and to reevaluate the cut-off values in the neonatal screening test for congenital hypothyroidism. Methods : Total 2,133 neonates(1,749 healthy newborns and 384 sick neonates) were screened in Dankook University Hospital from May 2000 to January 2003. Neonates with abnormal...
A Cost-benefit Analysis on Neonatal Screening of Phenylketonuria and Congenital Hypothyroidism in Korea
Hoe Cheol Yoon, Nyeon Cheon Kim, Dong Hwan Lee
Clin Exp Pediatr. 2005;48(4):369-375.   Published online April 15, 2005
Purpose : Many inborn errors of metabolism can be completely cured with early detection and early treatment. This is why neonatal screening on inborn errors of metabolism is implemented worldwide. In this study, a cost-benefit analysis was performed on the neonatal screening of phenylketonuria and congenital hypothyroidism in Korea. Methods : This study included 2,908,231 neonates who took the neonatal screening...
Usefulness of Intraoperative Transesophageal Echocardiography
Dong Won Lee, Byung Mok Kim, Sei Young Kim, Yeo Hyang Kim, Myung Chul Hyun, Sang Bum Lee
Clin Exp Pediatr. 2004;47(12):1281-1286.   Published online December 15, 2004
Purpose : This study was undertaken to learn the usefulness, cost-effectiveness and safety of intraoperative transesophageal echocardiography(ITEE) during open heart surgery for congenital heart diseases. Methods : The usefulness and safety of ITEE were assessed in 254 patients who underwent open heart surgery for congenital heart diseases from January 1, 2001 to June 30, 2003, with retrospective chart reviews and a...
Case Report
Congenital Pulmonary Vein Stenosis Manifested by Severe Cyanosis in Infancy
Jae Ju Cho, Woo Sung Park, I-Seok Kang, Tae-Gook Jun, Mi-Jin Jung
Clin Exp Pediatr. 2004;47(10):1114-1118.   Published online October 15, 2004
Congenital pulmonary vein stenosis(CPVS) with anatomically normal connection, a rare anomaly, usually leads to progressive pulmonary hypertension, cardiac failure in infancy, and death if untreated. Most are combined with other anomalies, particularly left to right shunt lesions. Very often, the detection of CPVS is overlooked on the initial cardiac echocardiogram, because it may be mild in its severity initially, but...
Original Article
Evaluation of Intrauterine Growth in Neonates with Congenital Heart Disease
Ji Hyun Yeo, Hee Jung Lee, Eun Sil Lee, Young Hwan Lee
Clin Exp Pediatr. 2004;47(7):746-750.   Published online July 15, 2004
Purpose : Intrauterine growth retardatation(IUGR) is very important because of high mortality and morbidity in the neonatal period. We studied the intrauterine growth retardation pattern in neonates with congenital heart disease(CHD). Methods : One hundred seventeen cases with CHD(acyanotic, 73 cases; cyanotic, 44 cases) who had no other congenital malformation or maternal diseases that might affect fetal growth were enrolled in...
Case Report
Surgical Correction of Congenital Heart Disease In 18 Trisomy
Jinyoung Song, Yun Hee Moon, Ki Young Jang, Jae Young Lee, Soo Jin Kim, Woo Seup Shim, Woong Han Kim
Clin Exp Pediatr. 2004;47(4):462-464.   Published online April 15, 2004
18 trisomy(Edwards syndrome) is a fatal disease with a congenital heart anomaly. Patients usually receive less aggressive care because caregivers expect them to die very young. Although they have a very poor prognosis due to severe multi-organ dysfunction, symptomatic simple cardiac anomaly with left to right shunt can be repaired. We experienced a case of 18 trisomy with ventricular septal...
Original Article
Characteristics of Pulmonary Atresia and Ventricular Septal Defect According to Morphologic Classification and Changes of Pulmonary Artery after Modified B-T Shunt
Kise Nam, Jeong Hoon Kim, Jae Young Choi, Jun Hee Sul, Sung Kue Lee, Young Hwan Park
Clin Exp Pediatr. 2004;47(3):304-309.   Published online March 15, 2004
Purpose : The purpose of this study is to help determine the optimal time and method for operation of pulmonary atresia(PA) with ventricular septal defect(VSD). Methods : Seventy patients who were diagnosed as PA with VSD in the Pediatric Department of Cardiology, Severance Hospital between May, 1991 and April, 1995, were included in our study. Subjects were divided into two groups...
Congenital Heart Disease in Jeju : Postnatal Incidence and Clinical Features
Jung Ha Lee, Gyu Hong Shim, Kyung Sue Shin, Jung Yun Hong, Yeoun Woo Kim, Seong Ho Kim, Chung Il Noh
Clin Exp Pediatr. 2004;47(3):294-303.   Published online March 15, 2004
Purpose : This is a retrospective descriptive study to determine the incidence of congenital heart disease(CHD) in Jeju and to estimate the suitability of the Jeju population as the subject for a regional birth cohort study. Methods : All patients with CHD diagnosed by two dimensional echocardiography in Cheju National University Hospital and Halla General Hospital from January 1999 to...
Case Report
A Therapeutic Experience of Congenital Bilateral Neuroblastoma
Yeon Kyong Seo, Heung Sik Kim, Kun Young Kwon, Hee Jung Lee, Hong Hoe Koo
Clin Exp Pediatr. 2003;46(12):1279-1282.   Published online December 15, 2003
Neuroblastoma is the most common intraabdominal malignant tumor of childhood, with 40% arising from the adrenal gland. Bilateral adrenal involvement from synchronous development or metastatic spread of tumor is rarely seen in children with neuroblastoma. The patient was born with a spontaneous vaginal delivery. Birth weight was 3,200 g. Fetal ultrasonography showed a left adrenal cystic mass. At two weeks...
A Case of Congenital Malaria
Eun Jin Lee, Hyen Ho Chang, Chong Guk Lee, Chong Rae Cho
Clin Exp Pediatr. 2003;46(8):821-825.   Published online August 15, 2003
Malaria is known to have been eradicated for a few decades through the persistent efforts of the national health program in South Korea. However, malaria caused by Plasmodium vivax has started to reappear incidiously among military personnel near to the De-militarized Zone since 1993. From that time on the number of malarial cases have increased abruptly year by year. However,...
A Case of True Precocious Puberty Complicating Congenital Adrenal Hyperplasia
Su Jin Kim, Ju Suk Lee, Su Yung Kim
Clin Exp Pediatr. 2003;46(4):400-403.   Published online April 15, 2003
Congenital adrenal hyperplasia(CAH) is a recognized cause of precocious pseudopuberty. Some children with CAH also develop true precocious puberty with early maturation of the hypothalamic-pituitary-gonadal axis. We review a case of CAH who eventually developed central precocious puberty nine months after initial treatment with corticosteroid. A 3-year-old boy visited complaining of rapid growth, a large penis and frequent penile erections....
A Case of Congenital Chloride Diarrhea in Premature Infant
Sung Kwan Yoon, Eun Young Kim, Kyung Rye Moon, Sang Kee Park
Clin Exp Pediatr. 2003;46(3):308-311.   Published online March 15, 2003
Congenital chloride diarrhea is a serious autosomal recessive disease, and defect of intestinal electrolyte absorption that involves, specifically, Cl－/HCO3－ exchange in the distal part of the ileum and colon. The clinical feature is dominated by profuse, watery diarrhea containing high concentrations of chloride(>90 mmol/L) and sodium. The chloride loss results in severe dehydration with a hypochloremic alkalosis. The molecular pathology...
A Case of Ring Chromosome 21 with Multiple Congenital Anomalies
Jun-Hwa Lee, Eul-Ju Seo
Clin Exp Pediatr. 2003;46(3):291-294.   Published online March 15, 2003
Ring chromosome 21 causes a multitude of phenotypes, ranging from severe abnormalities to normal. The proposed mechanism of ring formation, breakage of both short and long arms of a chromosome with subsequent end to end fusion, remains unproven. We encountered a 4-year-old boy who presented developmental delay, microcephaly, micrognathia, hypertelorism, low-set ears, mild optic nerve hypoplasia, cleft lip and palate,...
A Case of Congenital Solitary Liver Abscess
Sang Hee Kim, So Young Kim, You Jeong Kim, Hyun Hee Kim, Won Bae Lee, Kyung Tai Whang
Clin Exp Pediatr. 2002;45(11):1426-1429.   Published online November 15, 2002
Congenital solitary liver abscess in newborns is an extremely rare and serious disease. Only one case was reported in the literature. Most a liver abscesses have a postnatal origin. We encountered a premature infant who had a low. Apgar score and an elevated right diaphragm at birth. Pyogenic solitary liver abscess was diagnosed by ultrasound and computed tomography. Staphylococcus aureus...
A Case of Centronuclear Myopathy
Yun Hee Kim, Yun Hee Kim, Young Se Kwon, Young Se Kwon, Dae Hyun Lim, Dae Hyun Lim, Yong Hun Jun, Yong Hun Jun, Soon Ki Kim, Soon Ki Kim, Young Jin Hong, Young Jin Hong, Byong Kwan Son, Byong Kwan Son, Hae Seung Han, Hea Seung Han
Clin Exp Pediatr. 2002;45(9):1170-1174.   Published online September 15, 2002
Centrinuclear myopathy, an uncommon condition, is one of the congenital myopathies. It is characterized by the presence of central nuclei of muscle cells which can be detected on electronmicroscopy. It is believed to arise as a result of maturational arrest with persistence of microtubes postnatally. We report a boy with generalized hypotonia and muscle weakness who was diagnosed as centrinuclear...