• Clinical and Experimental Pediatrics
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• v.48 no.4
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• pp.380-386
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• 2005

Purpose : The incidence of nonphysiologic neonatal hyperbilirubinemia is twice as high in East Asians as in whites. Recently, UGT1A1 mutation was found to be a risk factor for neonatal hyperbilirubinemia. In congenitally-jaundiced Gunn rats, which lack expression of UDP-glucuronosyltransferase, alternative pathways can be stimulated by inducers of CYP1A1 and CYP1A2 enzymes. CYP1A2 plays a major role in bilirubin degradation of the alternate pathway. We studied the relationship between UGT1A1 and CYP1A2 gene polymorphism of neonatal hyperbilirubinemia in Koreans. Methods : Seventy-nine Korean full term neonates who had hyperbilirubinemia(serum bilirubin >12 mg/dL) without obvious causes of jaundice, were analyzed for UGT1A1 and CYP1A2 gene polymorphism; the control group was sixty-eight. We detected the polymorphism of Gly71Arg of UGT1A1 gene by direct sequencing and T2698G of CYP1A2 by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) using MboII and direct sequencing. Results : Allele frequency of Gly71Arg mutation in the hyperbilirubinemia group was 32 percent, which was significantly higher than 11 percent in the control group(P<0.0001). Mutant gene frequency of T2698G was 41.8 percent in patients and 32.3 percent in the control group(P=0.015), but allele frequency was 21 percent in patients and 19 percent in the control group, which was not significantly higher(P=0.706). There was no relationship between mutations of two genes(P=0.635). Conclusion : The polymorphism of UGT1A1 gene(Gly71Arg) and CYP1A2 gene(T2698G) was detected in Korean neonatal hyperbilirubinemia. Only polymorphisms of Gly71Arg in UGT1A1 were significantly higher than control group.

• Clinical and Experimental Pediatrics
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• v.50 no.1
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• pp.28-32
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• 2007

Purpose : Human angiotensin converting enzyme (ACE) gene shows an insertion/deletion polymorphism in 16 intron, and three genotypes are determined by whether a 287 bp fragment of the DNA is present or not; II, ID and DD genotype. DD genotype has been suggested as a risk factor of chronic nephrotic disease such as IgA nephropathy and diabetic nephropathy, various cardiovascular diseases and several other diseases. ACE activity increases in acute hepatitis, chronic persistent hepatitis, chronic active hepatitis and cirrhosis. On the other hand, patients with fatty livers have normal ACE activity. This study was designed to find out the relation between polymorphsims of the ACE genes and neonatal hyperbilirubinemia in Koreans. Methods : The genomic DNA was isolated from 110 full-term Korean neonates who had hyperbilirubinemia with no obvious causes (serum bilirubin$${\geq_-}12mg/dL$$) and 164 neonates of a control population (serum bilirubin <12 mg/dL). We performed polymerase chain reaction (PCR) to see the allele of the ACE gene. Electrophoresis was done in the PCR products in 1.5 percent agarose gel, and then DNA patterns were directly visualized under ethidium bromide staining. Results : ACE genotypes in the hyperbilirubinemia group are as follows; 26.36 percent for II, 53.64 percent for ID, 20.00 percent for DD, 0.532 for I allele and 0.468 for D allele. These distributions were not significantly different from those in the control group; 24.39 percent for II, 51.83 percent for DI, 23.78 percent for DD, 0.503 for I allele and 0.497 for D allele. Conclusion : In this study, ACE gene polymorphism was detected in the neonatal hyperbilirubinemia and control group. The most frequent genotype was ID. Our results indicate that the ACE gene polymorphism is not associated with the prevalence of neonatal hyperbilirubinemia in Koreans.

• Clinical and Experimental Pediatrics
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• v.48 no.2
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• pp.148-153
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• 2005

Purpose : The aim of this study was to determine the reference ranges of serum albumin levels depending on the gestational ages of preterm infants. We also intended to compare the mean serum albumin levels between groups of preterm infants that did not develop clinical disorders later, and groups that did develop clinical disorders such as respiratory distress syndrome, intraventricular hemorrhage, retinopathy of prematurity, apnea and bronchopulmonary dysplasia. We also examined the significance of serum albumin as a predictor for the development of clinical disorders. Methods : The records of 208 neonates with gestational ages from 23 weeks to 41 weeks were reviewed retrospectively. The mean albumin concentrations with reference ranges by gestational ages were determined. Statistics for each two of group were compared. Logistic regression analysis was used to model odd ratio, and 95 percent confidence interval as a mean of the association between predictors and outcome. Results : Serum albumin levels were at 23-24 weeks gestation was 2.36 g/dL, rising to 3.43 g/dL in full term babies. There were significant mean differences between the clinical groups and control groups for each clinical disorder such as respiratory distress syndrome, intraventricular hemorrhage, retinopathy of prematurity and apnea in premature babies of 30-36 weeks of gestation. Low serum albumin appeared to be associated with increased risks of clinical disorders. Conclusion : The normal serum albumin levels in preterm infants should be defined according to the gestational ages. Lower albumin levels increase the risks of the later development of clinical disorders, which are common in premature infants.

• Childhood Kidney Diseases
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• v.9 no.1
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• pp.8-14
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• 2005

Purpose : This study was peformed to study normative blood pressure data in full-term neonates that may be used to facilitate Identification of neonatal hypertension.Methods : 383 newborns born in our hospital from May 2003 to January 2004 were enrolled in this study Using an oscillometric device(BP-88 NEXT, COLIN Corp.), their blood pressures were measured more than one time within a week after birth. According to each clinical variable such as sex, delivery mode, birth weight, gestational age and presence of maternal disease or perinatal problems, we divided the population into groups and calculated the mean blood pressures of each group. We compared mean blood pressures between the divided groups according to each clinical variable statistically.Results : Mean systolic and diastolic blood pressure of the Population was 70.8$\pm$ 10.9 mmHg and 43.4 $\pm$ 8.0 mmHg, respectively. There was no satistically significant difference in blood pressure according to clinical variables. Mean systolic pressure showed positive correlation with birth weight and gestational age(r=0.1420, 0.03130).Conclusion : Our results are almost in agreement with Zubrow's data from 695 newborns in U.S.A, 1995. Our data may be helpful for early detection and management of neonatal hypertension, thereby maintaining renal function ,and preventing possible complications of renal disease.

• Journal of the Korean Society of Radiology
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• v.81 no.6
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• pp.1412-1423
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• 2020

Purpose Some patients with neonatal seizures show diffuse, symmetric diffusion-restricted lesions in the cerebral white matter. The aim of this study was to describe clinical and imaging findings of patients with neonatal seizures who had diffuse, symmetric diffusion-restricted lesions without any structural or metabolic etiology. Materials and Methods A total of 56 neonates aged less than 1 week underwent brain magnetic resonance imaging (MRI) for evaluation of seizures from November 2008 to February 2017. After excluding 43 patients, 13 patients showed diffuse white matter abnormality on diffusion-weighted imaging. Initial and follow-up clinical and MRI findings were analyzed retrospectively. Results All 13 patients were born at full term. Among the ten patients who underwent a stool test for viruses, six were positive for rotavirus and one for astrovirus. MRI revealed diffuse, symmetric diffusion-restricted lesions distributed along the cerebral white matter, thalami, and midbrain variably. Conclusion Diffuse, symmetric diffusion-restricted lesions involving the cerebral white matter can be seen in patients with neonatal seizures without any structural or metabolic etiology. Rotavirus is commonly but not exclusively detected in these patients. Nevertheless, viral infection-associated encephalopathy should be considered for patients with characteristic clinical and MRI findings.