• Clinical and Experimental Pediatrics
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• v.48 no.9
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• pp.939-945
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• 2005

Purpose : The purpose of this study was to report outcome of fetal infants with birth weight below 500 g known as lower limit of viability and to evaluate treatment characteristics and short-term morbidity of their survivors. Methods : We retrospectively analyzed the medical records of all fetal infants with birth weight below 500 g who were delivered at Samsung Medical Center(SMC), or transferred to neonatal intensive care unit(NICU) of SMC within 24 hrs after birth between 1994 and 2004. Data for all interventions and morbidity outcome were analyzed for infants who were admitted to the NICU and were compared between NICU survivors and deaths. Results : Among 53 infants with birth weights of 400 to 499 g who were born in SMC during the study period, 8(15.1%) infants were admitted to the NICU and one was transferred to NICU from other hospital. Overall, 4(44%) of 9 survived and were discharged from the NICU. The smallest infant who survived weighed 439 grams. The least gestational age was $23^{+3}$ among the survivors. Compared with NICU deaths, NICU survivors had larger gestational age($24^{+2}{\pm}1^{+3}$ vs. $25^{+4}{\pm}2^{+3}$) and birth weight($424{\pm}17$ vs. $453{\pm}19$)(P<0.05). Median survival duration of NICU deaths was 15 days. None of NICU survivors had severe IVH, but 3(75%) had laser therapy for retinopathy of prematurity and bronchopulmonary dysplasia, respectively. Conclusion : Fetal infants with birth weight below 500 g known as lower limit of viability survived successfully. Study for their long-term follow-up will be needed to define our limit of viability and indication for their active resuscitation.

• Clinical and Experimental Pediatrics
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• v.50 no.9
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• pp.875-881
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• 2007

Purpose : Chromosome analysis is important in genetic study and genetic counseling. This study was performed to evaluate the type and incidence of chromosome abnormalities in a single hospital for 25 years. Methods : Chromosome analyses were performed on peripheral blood lymphocytes, obtained from 4,856 patients with suspected chromosomal aberrations, referred to cytogenetic laboratory in Department of Pediatrics, Kyungpook National University Hospital from May 1981 to October 2005. Results : We analyzed 4,567 cases. Children were 3,014 cases (66.0%) and adult were 1,553 cases (34.0 %). The most common purpose of the chromosomal analysis was growth and developmental abnormality in children and infertility in adults. Total chromosomal aberration rate was 16.9% (770/4,567). Among those cases, the numerical abnormalities were 12.2% (558 cases), the structural abnormalities were 4.1% (187 cases), and others were 0.5% (25 cases). The relative frequencies of autosomal abnormalities were 6.4% (294 cases) in Down syndrome; 0.2% (7 cases) in Edwards syndrome; 0.1% (4 cases) in Patau syndrome; 0.2% (10 cases) in other abnormalities, of sex chromosome, 2.9% (131 cases) in Klinefelter syndrome; 2.2% (99 cases) in Turner syndrome; 0.2% (8 cases) in 47, XXX; 0.1% (3 cases) in 47, XYY. Among the structural abnormalities, translocation was 1.8% (84 cases), inversion was 0.8% (37 cases), deletion was 0.4% (17 cases), and insertion was 0.3% (13 cases), in order of frequency. Conclusion : In this study, the type, incidence and distribution of cytogenetic abnormalities by karyotype were reviewed. We hope that our study could be used as a basic information on the diagnosis, treatment and genetic counseling for chromosome abnormalities in Korea.

• Women's Health Nursing
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• v.6 no.4
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• pp.632-642
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• 2000

This study was carried out to investigate effect of education for breastfeeding on practice of breastfeeding 171 primiparae (experimental group with education 83 and control group without education 88) who gave birth in hospitals located in Taegu City from October 25, 1999 to December 25, 1999 and planned to breastfeed their children after childbirth. The results of this study were as follows. 1) The experimental group's practice rate of breast-feeding was statistically higher than the control group's at the points of two weeks, four weeks, eight weeks and twelve weeks after childbirth(p<0.05). However, the rate at the points of sixteen weeks and twenty weeks after childbirth was higher in the experimental group than in the control group but there was no significant difference between both groups. 2) The experimental group's discontinuance rate of breast-feeding was lower than the control group's at all the points of two weeks, four weeks, eight weeks, twelve weeks, sixteen weeks and twenty weeks after childbirth, and it was statistically significant(p<0.05). The discontinuance rate of breast-feeding at the point of four weeks after childbirth was the highest in both groups. It accounted for 25.5% in the experimental group and 36.8% in the control group. 3) The reason of which the rate appeared to be the highest among those for discontinuance of breast-feeding was the lack of breast milk. The rate accounted for 65.5% in the experimental group and 50.7% in the control group. In conclusion, the study suggested that the education for encouraging breast-feeding provided to the primiparae after childbirth has an positive effect on the practice of breast-feeding.

• Journal of Yeungnam Medical Science
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• v.3 no.1
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• pp.293-299
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• 1986

Obstetric problems concerning macrosomia were evaluated by retrospective review of 91 pregancies that resulted in the delivery of an infant weighing 4,000gm or more at the Yeungnam University Hospital during 3 1/2 years from Jun. 1983 to Oct. 1986. The results obtained were as follows. 1. Macrosomic infants weighing 4.000gm or more occured in 2.8% of the deliveries. 2. 65.9% of macrosomic infants and 53.5% of total infants were male. The ratio of male was statistically higher in the macrosomic infants than in the total infants(P<0.05). 3. The incidence of macrosomia was higher with increasing qestational age, and deliveries at 42 weeks or more gestation were more common in the macrosomic infants than in the total infants(P<0.01). 4. The incidence of macrosomia was highter with increasing parity, and stastically higher in the multipara than in the primipara(P<0.01). 5. There was no difference in the incidence of macrosomia between the mothers aged 24 or less and that of 30 or more. 6. The cesarean section rate of macrosomia(30.8%) was stastically higher than that of the total infants(15.7%)(P<0.01) 7. With the pregnacy and delivery of macrosomic infants, 22 antepartum anemia(24.2%), 10 postpartum hemorrhage(11.0%), 9 birth canal injury(10.0%), 7 prolonged second stage of labor (7.7%), 4 breech presentation, and 3 pregancy induced hypertension occured in the mothers, and 10 asphyxia(or Apgar score 6 or less), 2 shoulder dystocia, 1 intrauterine fetal death, and 1 sacrococcygeal teratoma occured in the infants.

• Clinical and Experimental Pediatrics
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• v.48 no.10
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• pp.1090-1095
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• 2005

Purpose : In the case of serious respiratory distress syndrome(RDS) or relapse of clinical appearances after single treatment, we obtained more effective results with multiple-dose surfactant replacement therapy. We carried out this investigation for comparing and observing clinical progress between single-dose(group S) and multiple-dose(group M) pulmonary surfactant treatment group of neonatal RDS. Methods : We investigated 48 neonates who were diagnosed as RDS and treated with pulmonary surfactant(PS) replacement therapy in NICU of Kyunghee University hospital from January 2002 to March 2004, then we compared and verified clinical progress of 32 neonates in group S with that of 16 neonates in group M. Results : There were no significant statistical differences in average birth weights, average gestational periods, initial pH values of birth, whether operation of resuscitation at that time of birth was made or not, whether prenatal steroid prescription for mother, RDS classification standardized by Bomsel, and ventilation index(VI) before instillation of PS of two groups. However, there was significant statistical difference in a/A $PO_2$(P<0.05). We could observe changes of VI and a/A $PO_2$ within 72 hours have been continuously improved at group S rather than group M. In spite of relapses, group M changed for the better after second dose. There were also no significant differences between the two groups in duration of ventilator therapy, mortality within 28 days after birth, intraventricular hemorrhage by complication, retinopathy of premature, necrotizing enterocolitis, chronic lung diseases, sepsis, and DIC. Conclusion : In these relapse cases, as there were no significant differences in the mortality rate and the occurence of complication between group S and group M, the requirement of multiple-dose PS replacement therapy which brought improvement of prognosis was emphasized.

• Clinical and Experimental Pediatrics
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• v.48 no.10
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• pp.1096-1101
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• 2005

Purpose : Recently, early surfactant replacement and tidal volume based gentle ventilation has been a fundamental treatment of respiratory distress syndrome(RDS). The aims of this study were to survey the changes in ventilator care duration and rate of complication in RDS groups. Methods : We performed a retrospective study of 255 newborn infants less than 1,500 g admitted to the neonatal intensive care unit(NICU) and discharged from January 1999 to December 2003. 141 of 255 newborn infants were RDS groups that required invasive management, such as endotracheal intubation, surfactant replacement and assisted ventilation. We analyzed epidemiologic data to study the changes in ventilator care duration and outcome of RDS groups. Results : Of 141 RDS groups, 135 were mild to moderate RDS groups and only 6 were severe RDS groups. 24(17.8%) of 135 mild to moderate RDS groups and 3(50%) of 6 severe RDS groups were antenatal no use of maternal dexamethasone. 127(90.1%) of 141 RDS groups underwent replacement of surfactant during 3 hours after birth. 121(85.9%) weaned within 48 hours. Conclusion : Our study shows a decreased frequency of severe RDS by a antenatal use of maternal dexamethasone and decreased duration of ventilator care by early surfactant replacement and gentle ventilation.

• Clinical and Experimental Pediatrics
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• v.49 no.4
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• pp.381-387
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• 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 SLE, diagnosed at Hanyang University Hospital for the period between January 1997 and January 2005. Clinical and laboratory data were retrospectively identified from medical record. Results : There were 5(8.8 percent) spontaneous abortions and one(1.8 percent) still births among 57 pregnancies of 55 mothers. Of 49 live births, 15(26.3 percent) were premature and eight(12.3 percent) were small for their gestational age. There was one(1.8 percent) CCHB suspected during pregnancy on fetal echocardiograpy in a fetus of mother with systemic lupus erythematosus and the fetus was not born by artificial abortion because of mother. There was no CCHB among EKG findings of 49 newborns. Laboratory testing showed hematologic abnormalities among 25.6 percent(10/39) of the babies. 5.1 percent(2/39) and 7.7 percent(3/39) of them were diagnosed as neutropenia, and thrombocytopenia was seen respectively. Anti-SSA(Ro) and antiphospholipid antibodies were predictive factors for prematurity(P=0.003, P=0.049). Anticardiolipin antibodies were predictive factors for ventilatory care(P=0.018). Conclusion : The incidence of CCHB among neonates born to mothers with SLE, which was measured in this study, was lower than that in earlier studies. A high incidence of hematologic abnormalities was found in our study. It is suggested that careful examination should be made of skin for the diagnosis of neonatal lupus.

• Journal of Genetic Medicine
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• v.5 no.2
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• pp.139-144
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• 2008

We report on two cases of pericentric inversion of X chromosome. The cases were found in a 40-year-old man with azoospermia and in a family of a 38-year-old pregnant woman. The first case with 46,Y,inv(X)(p22.1q27) had concentrations of LH, prolactin, estradiol, and testosterone that were within normal ranges; however, FSH levels were elevated. Testis biopsy revealed maturation arrest at the primary and secondary spermatocytes without spermatozoa. There were no microdeletions in the 6 loci of chromosome Y. For the second case, the cytogenetic study of thepregnant woman referring for advanced maternal age and a family history of inversion X chromosome was 46,X,inv(X)(p22.11q27.2). The karyotype of her fetus was 46,X,inv(X)(p22.1q27). Among other family members, the karyotypes of an older sister in pregnancy and her fetus were 46,X,inv(X)(p22.11q27.2), and 46,Y,?inv(X), respectively. The proband's father was 46,Y,inv(X)(p22.11q27.2). All carriers in the family discussed above were fertile and phenotypically normal. In addition, the ratio of inactivation of inv(X) by RBG-banding was discordant between the two sisters, with the older sister having only 4.1% of cells carrying inactivated inv(X) while the proband had a 69.5% incidence of late replicating inv(X). Therefore, we suggest that the cause of azoospermia in the first case might be related to inversion X chromosome with positional effect. Also, the family of the second case showing normal phenotype of the balanced inv(X) might be not affected any positional effect of genes.

• Clinical and Experimental Pediatrics
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• v.45 no.9
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• pp.1126-1133
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• 2002

Purpose : Prader-Willi syndrome(PWS) is a complex disorder affecting multisystems with characteristic clinical features. Its genetic basis is an expression defect in the paternally derived chromosome 15q11-q13. We analyzed the clinical features and genetic basis of PWS patients for early detection and treatment. Methods : We retrospectively studied 24 patients with PWS in Department of Pediatrics, Samsung Medical Center, from September 1997 to September 2001. We performed cytogenetic and molecular genetic techniques using high resolution GTG banding techniques, fluorescent in situ hybridization and methylation-specific PCR for CpG island of SNRPN gene region. Results : The average birth weight of PWS patients was $2.67{\pm}0.47kg$ and median age at diagnosis was 1.3 years. The average height and weight of PWS patients under one year at diagnostic time were located in a 3-10 percentile relatively, and a rapid weight gain was seen between two and six years. Feeding problems in infancy and neonatal hypotonia were the two most consistently positive major criteria in over 95% of the patients. In 18 of the 24 cases(75%), deletion of chromosome 15q11-q13 was demonstrated and one case among 18 had an unbalanced 14;15 translocation. In four cases without any cytogenetic abnormality, it may be considered as maternal uniparental disomy and the rest showed another findings. Conclusion : We suggest diagnostic testing for PWS in all infants/neonates with unexplained feeding problems and hypotonia. It is necessary for clinically suspicious patients to undergo an early genetic test. As the genetic basis of PWS was heterogenous and complex, further study is required.

• Clinical and Experimental Pediatrics
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• v.51 no.9
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• pp.964-970
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• 2008

Purpose : Methylmalonic aciduria (MMA) and propionic aciduria (PA) are inborn errors in the catabolism of branched-chain amino acids. The study was undertaken to investigate the genotypes and clinical features of Korean patients with MMA and PA. Methods : This study examined 12 patients with MMA and eight with PA. We analyzed various clinical features, laboratory findings, treatments, and neuro-developmental outcomes. Diagnoses were based on the presence of characteristic compounds detected by amino acid analysis in serum and organic acid analysis in urine. Mutation analysis was performed in the genes of MUT, MMAA, MMAB, and MMACHC for MMA and PCCA and PCCB for PA. Results : Among the 20 patients, six patients were diagnosed before one month of age and nine patients were diagnosed after the newborn period. Five patients were diagnosed via a neonatal screening test. Patients with early-onset forms had more severe illness at presentation and generally poor outcomes. A favorable outcome was obtained in 55% patients; most of them were of a late-onset type or diagnosed by neonatal mass screening test without symptoms. Genotypes were confirmed in all patients with MMA. We detected 11 different mutations by MUT gene analysis in 10 patients, and three different mutations in MMACHC genes in two patients. PCCA and PCCB gene mutations were identified in 14 of the 16 alleles, in eight patients with PA. Conclusion : Organic aciduria is a fatal disease; however, better outcomes are expected whenever early diagnosis and prompt management are made possible. Mutation analysis is useful for confirming diagnoses and planning management strategies.