• Clinical and Experimental Pediatrics
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• v.45 no.7
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• pp.917-922
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• 2002

An unbalanced translocation is frequently the result of inheritance of an unbalanced haploid set from a parent with a balanced translocation. Families in which one parent is a balanced translocation carrier fall into the following classes : Those in which none of the possible abnormal offsprings is viable; Those in which one type of offspring, usually the one with the smaller deletion, is born alive; Those in which two types of abnormal offspring are viable. We report a neonate whose karyotype was 46,XX,der(2)t(2;7)(q21;p21.2),der(20)t(2;20)(q21;p13). She was small for her gestational age and had multiple anomalies such as exophthalmos, corneal opacity, short neck, tongue tie, clinodactyly, atrial septal defect, patent ductus arteriosus and ventriculomegaly. Moreover, her mother's karyotype was 46,XX,der(2)t(2;7)(q21;p21.2),del(16)(q22.1),der(20)t(2;20)(q21;p13) but her father had normal karyotype. The same derivative chrosomes were found between mother and her infant, except for del(16)(q22.1) in her mother and these same unbalanced translocations in a two-generation family are extremely rare.

• Journal of Yeungnam Medical Science
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• v.15 no.1
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• pp.67-74
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• 1998

Successful management of duodenal obstruction in newborn infant implies not only satisfactory nutrition but also achievement of normal growth. To aid early diagnosis and management, we evaluated the diagnostic methods, operative interventions and clinical characteristics of thirty-nine infants with congenital duodenal obstructions. In the 11-year period from July 1986 through June 1997, thirty-nine patients with congenital duodenal obstruction (23 males and 16 females) were treated and reviewed at the Department of Pediatric Surgery, Yeungnam University Hospital. The ratio of male to female was 1.4:1, and 29 cases(74.1%) among total 39 patients were newborn. There were 5 premature patients and 16 patients of small for gestational age. The most common causes of the congenital duodenal obstruction was malrotation (26 cases, 66.7%) and followed by annular pancreas (9 cases, 23.1 %), type 1 atresia (3 cases, 7.7%) and wind-sock anomaly (1 case, 2.6%). Common symptoms were vomiting, abdominal distention, jaundice. Plain abdominal X-ray study combined with upper gastrointestinal series was the most commonly used diagnostic method. The operative procedures were performed by same pediatric surgeon utilizing Ladd's procedure in 26, duodenoduodenostomy in 8, duodenojejunostomy in 4, excision of wind-sock membrane in 1. A total of 15 associated congenital anomalies were found in 9 patients. Postoperative complications occurred in 13(33.3%). Overall mortality was 2.6%(1/39). Bilious vomiting and plain abdominal radiologic study were most useful for the diagnosis of congenital duodenal obstruction. Early diagnosis and operative intervention were important to prevent complications such as sepsis and peritonitis.

• Neonatal Medicine
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• v.28 no.1
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• pp.29-35
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• 2021

Purpose: Intussusception is the most common cause of bowel obstruction in children; however, it is rarely diagnosed in newborn infants. This study aimed to describe the clinical features of intussusception in newborn infants. Methods: Medical records of eight patients diagnosed with intussusception during the newborn period at Ulsan University Hospital between March 2007 and March 2020 were retrospectively reviewed. Results: Among the eight cases, two occurred in the intrauterine period and six occurred in the postnatal period. Intrauterine intussusception presented with symptoms of bowel obstruction within 1 to 2 days after birth, and ileal atresia was diagnosed simultaneously through exploratory laparotomy. All the postnatal patients were extremely low birth weight infants (median gestational age and birth weight: 25⁺⁶ weeks and 745 g, respectively). Four cases were diagnosed preoperatively using abdominal ultrasonography. One patient was diagnosed by exploratory laparotomy because the clinical symptoms were nonspecific and difficult to differentiate from those of necrotizing enterocolitis, a more prevalent complication in preterm infants. The site of intussusception in all six patients was the small bowel. Meckel's diverticulum (one case) and meconium obstruction (two cases) were found to be the lead point. Conclusion: Neonatal intussusception tends to show different clinical features according to its period of occurrence. Intussusception, especially in preterm infants, has nonspecific clinical features; therefore, clinicians should always be cautious of this disease for its early diagnosis.

• Clinical and Experimental Pediatrics
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• v.50 no.11
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• pp.1061-1066
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• 2007

Purpose : Early identification of developmental disabilities allows intervention at the earliest possible point to improve the developmental potential. The Ages and Stages Questionnaire (ASQ), a parent- completed questionnaire, can be used as a substitute for formal screening tests. The purpose of this study was to evaluate the validity of the Korean version of the ASQ (K-ASQ) as a screening tool for detecting developmental delay of young Korean children in the setting of a busy pediatric outpatient clinic. Methods : Parents completed the K-ASQ in the waiting room of the pediatric outpatient clinic of St. Mary's Hospital, Catholic University Medical College. Out of 150 completed the ASQ, 67 who were born term and had no previous diagnosis of developmental delay, congenital anomalies, or neurological abnormalities were enrolled. The cut-off values of less than 2 standard deviations (SD) below the mean for the ASQ were used to define a "fail", and children who failed in one or more domains tested were classified as "screen-positive". Diagnosis of developmental delay was made when the developmental indices fell below -1 SD of the Bayley Scales of Infant Development-II. Results : (1) The mean age of children was $16.4{\pm}7.4$ months. Ten children (14.9%) were small-for- gestational age infants. The mean birth weight and gestational age were $3.1{\pm}0.6kg$ and $38.8{\pm}1.4$ weeks. Nine children (13.4%) were twins and 33 (49.0%) were male. The mean maternal education in years was $13.6{\pm}2.4$, and 31.3% had full-time jobs. The time for completing the ASQ was $10.2{\pm}3.0$ minutes. (2) Seventeen children (25.4%) were classified as screen-positive, four of them were delayed in development. Among eight children diagnosed with developmental delay, four were screen-positive and the other four were screen-negative by the ASQ. (3) The test characteristics of the ASQ were as follows: sensitivity (50.0%); specificity (78.0%); positive predictive value (23.5%); negative predictive value (92.0%). Conclusion : The high negative predictive value of the K-ASQ supports its use as a screening tool for developmental delay in the setting of a pediatric outpatient clinic.

• Journal of Korean Medical Science
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• v.33 no.47
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• pp.296.1-296.7
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• 2018

Background: Antepartum, intrapartum, and postpartum preventive measures with antiretroviral drugs, appropriate delivery methods, and discouraging breastfeeding significantly decrease the risk of mother-to-child transmission of human immunodeficiency virus (HIV) infection. Herein, we investigated the pregnancy outcomes in HIV-infected Korean women. Methods: We retrospectively reviewed medical records of childbearing-age HIV-infected women between January 2005 and June 2017 at four tertiary care hospitals in Korea. Results: Among a total of 95 HIV infected women of child-bearing age with 587.61 years of follow-up duration, 15 HIV-infected women experienced 21 pregnancies and delivered 16 infants. The pregnancy rate was 3.57 per 100 patient-years. Among the 21 pregnancies, five ended with an induced abortion, and 16 with childbirth including two preterm deliveries at 24 and 35 weeks of gestation, respectively. The two preterm infants had low birth weight and one of them died 10 days after delivery due to respiratory failure. Among the 14 full-term infants, one infant was small for gestational age. There were no HIV-infected infants. Conclusion: The pregnancy rate of HIV-infected women in Korea is lower than that of the general population. Although several adverse pregnancy outcomes were observed, mother-to-child transmission of HIV infection was successfully prevented with effective preventive measures.

• Journal of Yeungnam Medical Science
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• v.11 no.1
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• pp.35-41
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• 1994

Newborns with ileal atresia freqently present with abdominal distension, bilious vomiting. and failure to pass meconium. Diagnosis is usually established on plain x-ray of the abdomen by the findings of distended small bowel loops and air-fluid levels. In the period of October 1988 to February 1994, 8 patients with congenital ileal atresia were operated and the following results were obtained. 1. Eight patients were comprised of 4 males and 4 females, the ratio of male and female was 1 : 1. 2. Six patients(75%) had been admittted to our hospital during three days of life. 3. Congenital ileal atresia was in 8 cases : Type I in two(25%), Type II in two(25%), Type IIIa in three(37.5%), Type IIIb in one(12.5%). 4. There was one premature patient who was small for gestational age. 5. Overall, abdominal distension and bilious vomiting occurring in seven patients, were frequent presenting complaints. 6. Diagnosis was possible with clinical symptom and simple abdomen. 7. Operative treatment was undertaken as soon as the diagnosis was made. In seven cases a primary end-to-end anastomosis was performed after resection of dilated proximal loop. 8. A total of four associated congenital anomalies were found in one patient. 9. Postoperative complications occurred in three cases(37.5%).

• Clinical and Experimental Pediatrics
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• v.53 no.2
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• pp.173-177
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• 2010

Purpose : Methicillin-resistant Staphylococcus aureus (MRSA) is an important pathogen that causes nosocomial infection in NICU. It contributes to neonatal morbidity and mortality with variable complications. This study was conducted to identify the risk factors associated with complicated MRSA bacteremia in neonates. Methods : We reviewed the medical records of 44 neonates with positive blood culture for MRSA who were admitted to the NICU of Pusan National University Hospital from January 2002 to December 2007. We compared various factors of the complicated and uncomplicated MRSA bacteremia cases. Results : Of the 44 neonates, 31 were male and 13, female. The mean gestational age and birth weight were $33.2{\pm}4.9$ weeks and $1,859.9{\pm}962.2g$, respectively. Twenty-one of infants were treated with a mechanical ventilator during a mean of $8.8{\pm}13.8$ days. There were 13 cases of complicated and 31 cases of uncomplicated MRSA bacteremia. Between the 2 groups, we compared the following variables: gestational age, birth weight, ventilator use, umbilical catheter use and central catheter insertion, $O_2$ inhalation, first oral feeding day after birth, underlying disease, transfusion, and initial vancomycin use. The underlying disease and transfusion were the risk factors related to complicated MRSA bacteremia. Conclusion : Complicated MRSA bacteremia is related to underlying disease and transfusion. Since this was a retrospective study with a small sample size, it offered limited capacity to compare complicated and uncomplicated MRSA bacteremia. A prospective study with a larger population is needed to determine the exact characteristics of MRSA bacteremia in NICU.

• Journal of Yeungnam Medical Science
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• v.2 no.1
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• pp.103-111
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• 1985

Childhood epilepsy which has high prevalence rate and inception rate is one of the commonest problem encountered in pediatrician. In contrast with epilepsy of adult, in childhood epilepsy, more variable and varying manifestations are found because the factors of age, growth and development exert their influences in the manifestations and the courses of childhood epilepsy. Moreover epileptic children have associated problems such as physical and mental handicaps, psychologicaldisorders and learning disability. For these reasons pediatrician who deals with epileptic children experiences difficulties in making diagnosis and managing them. In order to improve understanding and management of childhood epilepsy, authors reviewed 103 cases of epileptic patients seen at pediatric department of Yeungnam University Hospital retrospectively. The patients were classified according to the type of epileptic seizure. Suspected causes of epilepsy, associated conditions of epileptic patients, age incidence and the findings of brain CT were reviewed. Large numbers of epileptic patients (61.2%) developed their first seizures under the age of 5. The most frequent type of epileptic seizure was generalized ionic-clonic, tonic, clonic seizure (49.5%), followed by simple partial seizure with secondary generalization (17.5%), simple partial seizure (7.8%), a typical absence (5.8%) and unclassified seizure (5.8%). In 83.5% of patients, we could not find specific cause of it, but in 16.5% of cases, history of neonatal hypoxia (4.9%), meningitis (3.9%), prematurity (1.9%), small for gestational age (1.0%), CO poisoning (1.0%), encephalopathy (1.0%), DPT vaccination (1.0%), cerebrovascular accident (1.0%) and neonatal jaundice (1.0%) were found, 30 cases of patients had associated diseases such as mental retardation, hyperactivity, delayed motor milestones or their combinations. The major abnormal findings of brain CT performed in 42 cases were cortical atrophy, cerebral infarction, hydrocephalus and brain swelling. This review stressed better designed classification of epilepsy is needed and with promotion of medical care, prevention of epilepsy is possible in some cases. Also it is stressed that childhood epilepsy requires multidisplinary therapy and brain CT is helpful in the evaluation of epilepsy with limitation in therapeutic aspects.

• Journal of Yeungnam Medical Science
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• v.7 no.2
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• pp.39-48
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• 1990

Congenital duodenal obstruction in the newborn infant may be due to a variety of causes. Duodenal obstruction often presents with bilious vomiting and upper abdominal distention. Diagnosis is usually established on plain x-ray of the abdomen by the classic finding of the double-bubble. In the period July 1986 to June 1990, 16 patients with congenital duodenal obstruction were operated and the following results were obtained. 1. Sixteen patients were comprised of 11 males and 5 females, the ratio of male and female was 2.2:1. 2. Thirteen patients(81%) had been admitted to our hospital during one month of life. 3. Congenital duodenal obstruction was in 16 cases; malrotation in eight(50%), annular pancreas in six(38%), type 1 atresia in one(6%), and wind-sock anomaly in one(6%). 4. There were two premature patients and six patients of small for gestational age. 5. Overall, bilious vomiting, occurring in three fourths, was the single most frequent presenting complaint. 6. Polyhydramnios occurred in two of the patients. 7. Diagnosis was possible with clinical symptom and simple abdomen. 8. The operative procedures performed were ; duodenoduodenostomy in five, duodenojejunostomy in two, excision of wind-sock membrane in one, and Ladd's procedure in eight. 9. A total of ten asociated congenital anomalies were found in six patients. 10. Postoperative complications occurred in five cases(31%).

• Clinical and Experimental Pediatrics
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• v.52 no.8
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• pp.922-929
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• 2009

Purpose : The aim was to investigate the clinical characteristics and responses to growth hormone (GH) therapy in children with attenuated growth who showed normal GH responses to GH stimulation tests (GHST). Methods : The study included 39 patients with height velocity (HV) of less than 4 cm/yr and normal GHST results. Clinical characteristics of patients were analyzed retrospectively. Results : Eleven were born as small for gestational age (SGA) and 28 as appropriate for age (AGA). In the SGA group, the standard deviation score (SDS) of age and height measured at their first visit was significantly low. Sixteen patients were treated with GH and six of 23 without GH therapy were followed for 1 year after GHST. The mean (range) of HV was 7.7 (4.9 to 11.1) cm/yr in patients with GH therapy and 3.7 (2.7 to 4.5) cm/yr in those without GH therapy, which was statistically significant (P<0.001). In the GH-treated group, HV and difference in height SDS during the treatment increased significantly (P<0.001; P< 0.001, respectively). HV increased after 1 year of GH therapy in the SGA and AGA groups (SGA, P=0.043; AGA, P=0.003). The level of Insulin-like growth factor-I was significantly lower in GH-treated patients with height SDS <-3 than those with ${\geq}3$ (P=0.023). Conclusion : In children with growth failure and normal GHST, HV increases significantly by short-term GH therapy. The assessment of long-term effects of GH therapy is necessary. Moreover, further studies should be considered to evaluate the GH-IGF-I axis due to the possibility of GH insensitivity syndrome.