• Clinical and Experimental Reproductive Medicine
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• v.30 no.3
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• pp.223-231
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• 2003

Objective: The aim of the present study was to evaluate the clinical efficiency of fluorescent in situ hybridization (FISH) in the prenatal diagnosis of chromosomal aneuploidy. Methods: We reviewed data of 268 cases to identify women undergoing genetic amniocentesis at cytogenetic laboratory, from January 2000 to December 2002. Amniotic fluid was submitted for both rapid FISH on uncultured interphase amniocytes using a commercially available DNA probe for chromosome 13, 18, 21, X, Y and standard karyotyping on cultured metaphase amniocytes. Results from FISH and full karyotype were compared. Results: There were 251 cases (84%) normal and 17 cases (16%) abnormal in FISH results. All 17 cases of trisomy 13, 18, 21 including two cases of mosaicism and sex chromosome aneuploidies which are detected by FISH were confirmed with conventional cytogenetics and there was no false positive result. Twenty two cases had karyotypically proven abnormalities that could not have been detected by the targeted FISH. Conclusion: Interphase FISH analysis of uncultured amniotic fluid cells has been shown to be an effective and reliable technique for rapid fetal aneuploidy screening during pregnancy as an adjunctive test to conventional cytogenetics.

• Journal of Yeungnam Medical Science
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• v.16 no.1
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• pp.52-59
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• 1999

This study was conducted to evaluate the effect of the antenatal ambroxol administration to mothers who were in danger of imminent preterm delivery in preventing the neonatal respiratory distress syndrome(RDS). Forty-two preterm newborn infants who were delivered at Yeungnam University Hospital from January 1996 to December 1997 were divided into two groups, 21 in ambroxol-treated group and 21 in control group. Six cases of the respiratory distress syndrome were developed from 21 ambroxol-treated infants, but 13 cases of RDS, from 21 control infants. This result indicated a significant reduction of the occurrence of RDS by antenatal administration o[ ambroxol (p<0.05). There were no differences in the occurrence of adverse effects of ambroxol in mothers between the two groups. There was also no difference between pre- and post-treatment hematologic and biochemical parameters in ambroxol-treated group. In conclusion, when premature delivery is expected, the administration of ambroxol before delivery enhances lung maturation in premature newborn infants and prevents the occurrence of respiratory distress syndrome without significant adverse effects.

• Clinical and Experimental Pediatrics
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• v.45 no.4
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• pp.512-518
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• 2002

Purpose : Cerebral palsies are the most common and severe motor disabilities in childhood. There is currently increased interest in their occurrence and patterns of likely cause for a variety of reasons. Therefore, a retrospective study was carried out to understand the clinical features of cerebral palsy. Methods : A retrospective chart review was conducted of all children with cerebral palsy who were diagnosed at St. Benedict Hospital between March 1999 and March 2001. Results : Cerebral palsy patients were classified into 6 major groups. Of six groups, spastic diplegia is the most common type of cerebral palsy(55.3%). The risk factors of cerebral palsy were placenta previa(1 case), placenta abruption(1 case), cytomegalovirus infection(1 case), prematurity (53 cases), neonatal asphyxia(12 cases), dystocia(2 cases), breech delivery(1 case), multiple birth(5 cases), head trauma(3 cases), meningitis(2 cases) and unknown(26 cases). Among the 59 in the preterm group, 37 patients showed MR or CT images of periventricular leukomalacia. Among the 44 in the term group, 15 patients showed MR or CT images of atrophy. Among 103 patients, 29 patients(28.2%) had a seizure disorder. Conclusion : It is very importent to understand the clinical features and risk factors of cerebral palsy for physicians to diagnose and manage cerebral palsy patient.

• Clinical and Experimental Pediatrics
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• v.45 no.2
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• pp.223-231
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• 2002

Purpose : We review our experience with pyeloplasty for unilateral ureteropelvic junction obstruction of moderate to severe hydronephrosis observed by prenatal ultrasonography to assess the appropriate timing of operation for recovery of renal function and obstruction. Methods : We retrospectively reviewed the records of the total 28 patients who underwent pyeloplasty between 1995 and 2001 at Asan Medical Center. We compared pre and postoperative differentials in renal function and diuretic renogram as measured by technetium-99m-mercaptoacetyl-triglycerine scan and the degree of hydronephrosis by renal ultrasonography. Results : In all 28 patients postoperative follow-up renal ultrasonography revealed significant improvement in hydronephrosis. In 10 poorly functioning hydronephrotic kidneys in which relative renal function function was less than 35%, renal function was improved postoperatively in 3 cases, but not improved in 7 cases. In all 28 patients postoperative follow-up diuretic renogram revealed significant improvement. Conclusion : We believe that the early pyeloplasty should be considered when ultrasonography and diuretic renography suggest obstruction because renal function does not improve significantly after pyeloplasty over preoperative value.

• Clinical and Experimental Pediatrics
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• v.52 no.2
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• pp.242-246
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• 2009

The clinical features of ring chromosome 13 include mental and growth retardation, CNS anomalies, facial dysmorphism, cardiac defects, genital malformations, limb anomalies, skeletal deformities and anal malformations. Although many cases of ring chromosome 13 have been reported worldwide, only 6 cases have been reported in Korea, and the latter cases were not mosaic but pure ring chromosome 13. Here we report a case with mosaic ring chromosome 13. The baby boy was born at 37 weeks of gestation by induced vaginal delivery due to intrauterine growth restriction (IUGR). He was the second baby of a 28-year-old hepatitis B carrier mother and a 32-year-old father. There was no family history of chromosomal anomalies. The baby was a symmetric IUGR with a birth weight of 1,860 g, length of 44.8 cm, and head circumference of 29.4 cm. The physical examination revealed microcephaly, trigonocephaly, flat occiput, large ears, short neck and dysmorphic facial features, including microophthalmia, hypertelorism, antimongoloid slanting palpebral fissures, a flat nasal bridge, and micrognathia. The karyotype of this patient performed by peripheral blood lymphocytes was 46,XY,r(13)(p13q34)/45,XY,-13/46,XY,dic r(13;13)(p13q34;p13q34). The baby showed failure to thrive, hypotonia, and developmental delay. We report the first case of mosaic ring chromosome 13 in a male baby in Korea and compare this case with other Korean cases of non-mosaic ring chromosome 13.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.21 no.3
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• pp.153-160
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• 2010

Objectives: The purpose of this study was to evaluate the prenatal, perinatal, and infancy history of children with autism spectrum disorder (ASD) as compared to unaffected siblings (SIB) and typically developing children (TC). Methods: Subjects with ASD, their SIB, and TC were recruited. All subjects were assessed using both the Korean version of Autism Diagnostic Interview-Revised (K-ADI-R) and the Korean version of Autism Diagnostic Observation Schedule (K-ADOS) and were subsequently identified as affected or unaffected. Prenatal, perinatal, and infancy history was obtained from the primary caregivers and each facet was compared in those with ASD, the SIB, and the TC groups using SPSS ver. 17.0 (p<.05). Results: 70 individuals with ASD (63 males, 87.94${\pm}$37.8months), 53 SIB (27 males, 85.4087.94${\pm}$48.06 months), and 32 TC (19 males, 104.1987.94${\pm}$23.409 months) were analyzed. The ASD group showed significantly higher rates of insufficient vaccination as they aged age ($x^2$=15.54, p=.000). Among the scheduled vaccinations, the DPT vaccination ($x^2$=10.08, p=.006) was insufficient in ASD groups. The ASD group also showed higher rates of sleep disturbances from infancy. Differences in maternal/paternal age at conception, gestational age, and growth parameters at birth were not significantly difference among the three groups. Conclusion: These results do not support the previous controversies regarding the relationship between prenatal/perinatal complications and ASD. However, these results indicate that perinatal and prenatal factors may contribute to the development of ASD.

• Child Health Nursing Research
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• v.20 no.4
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• pp.275-282
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• 2014

Purpose: The purpose of this study was to identify effects of a maternal-child health education program for nurses in Tigray, Ethiopia. Methods: One-group pre-posttest design was used. The maternal-child health (MCH) education program was given to nurses from 5 health centers in Tigray, Ethiopia. Knowledge and confidence levels were measured before and after each education session. Data were analyzed using paired t-test. Results: The topics of the 5 educational sessions were family planning, antenatal care, care during labor, immunization, and integrated management of neonate, and child illness. Knowledge scores (1st: Z=3.931, p=.001; 2nd: Z=6.189, p <.001; 3rd: Z=5.658, p <.001, 4th: Z=8.734, p <.001, 5th: Z=14.167, p <.001) and confidence levels (1st: Z=8.467, p <.001; 2nd: Z=4.183, p <.001; 3rd: Z=4.992, p <.001) improved significantly. Conclusion: The findings of this study imply that the MCH education program for nurses was effective in developing the maternal-child health capacity of the nurses in Tigray, Ethiopia.

• Advances in pediatric surgery
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• v.10 no.2
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• pp.99-106
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• 2004

Intestinal atresia is a frequent cause of intestinal obstruction in the newborn. We reviewed the clinical presentation, associated anomalies, types of atresias, operative managements, and early postoperative complications in 36 cases of intestinal atresia treated at the Department of Surgery, Kyungpook National University Hospital between January 1994 and February 2003. Location of the lesion was duodenum in 17 patients, jejunum in 11 patients and ileum in 8 patients. The male to female ratio was 1:1.4 in duodenal atresia (DA), 2.7:1 in jejunal atresia (JA) and 7:1 in ileal atresia (IA). The most common type was type III (41.1 %) in DA, and type I (52.6 %) in JA and IA. The most common presenting symptoms was vomiting(88.2 %) in DA, but in jejunoileal atresia, vomiting(89.4 %) and abdominal distension(89.4 %) were the most common sign and symptom. All cases of DA were diagnosed by plain abdominal radiography. There were 6 cases of DA with congenital heart disease, 3 cases of DA with Down syndrome and 3 cases of JA with meconium peritonitis. Segmental resection was performed in 13 cases, duodenoduodenostomy in 11 cases, membrane excision in 7 cases, jejunojejunostomy in 2 cases, gastroduodenostomy in 2 cases and ileocolic anastomosis in 1 case. There were 9 postoperative complications including 3 each of anastomotic leakage, wound infection, and intestinal obstruction 3 cases. The mortality rate for DA was 11.8 %(2/17). Both deaths in DA were attributed to congenital heart disease. The mortality rate for JA was 18% (2/11). Both cases died with sepsis and short bowel syndrome.

• Journal of Genetic Medicine
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• v.5 no.2
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• pp.131-135
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• 2008

Classical galactosemia is an autosomal recessive disorder of galactose metabolism, caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT). Buildup of galactose-1-phosphate is toxic at high levels and can damage the liver, brain, eyes, and other vital organs. The case presented here was that of an 11-day-old female infant who had elevated galatose levels upon initial neonatal screening test with persistent cholestatic jaundice, coagulopathy, and hepatomegaly. The patient was transferred due to aggravation of clinical symptoms including bleeding and jaundice. She had a delayed galactose free diet because of an inappropriate diagnosis. We quickly provided her with a lactose/galactose-restricted diet as per her final diagnosis. Clinical and laboratory results were improved after a few days of treatment. For confirmatory testing for classical galactosaemia, we simultaneously analyzed for GALT enzyme activity and allele-specific PCR/fragments for seven mutations and two polymorphisms in the GALT gene. We were able to find several GALT-deficient and compound heterozygous mutations of the GALT gene.

• Journal of Genetic Medicine
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• v.6 no.2
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• pp.131-145
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• 2009

Preimplantation genetic diagnosis (PGD) has become an assisted reproductive technique for couples who are at risk that enables them to have unaffected baby without facing the risk of pregnancy termination after invasive prenatal diagnosis. The molecular biology and technology for single-cell genetics has reached an extremely high level of accuracy, and has enabled the possibility of performing multiple diagnoses on one cell using whole genome amplification. These technological advances have contributed to the avoidance of misdiagnosis in PGD for single gene disorders. Polymerase chain reaction (PCR)-based PGD will lead to a significant increase in the number of disorders diagnosed and will find more widespread use, benefiting many more couples who are at risk of transmitting an inherited disease to their baby. In this review, we will focus on the molecular biological techniques that are currently in use in the most advanced centers for PGD for single gene disorders, including biopsy procedure, multiplex PCR and post-PCR diagnostic methods, and multiple displacement amplification (MDA) and the problems in the single cell genetic analysis.