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1956G>C Polymorphism of the UDP-glucuronosyltransferase Gene (UGT1A1) for Neonatal Hyperbilirubinemia in Koreans.

Jun Ho LIM ; Mi Yeoun KIM ; Ji Sook KIM ; Eun Ryoung KIM ; Seo Hyun YOON ; Hee Jae LEE ; Joo Ho CHUNG

Journal of the Korean Society of Neonatology.2005;12(2):158-164.

PURPOSE: The incidence of neonatal hyperbilirubinemia is twice as high in Eastern Asians as in Caucasians. Although it has not been clearly defined, the UDP-glucuronosyltransferase gene (UGT1A1) mutation was found to be a risk factor of neonatal hyperbilirubinemia. This study is to find an association of 1956G>C polymorphism of the UGT1A1 gene, which encodes for a key enzyme of bilirubin metabolism and neonatal hyperbilirubinemia in Korean infants. METHODS: The genomic DNA was isolated from 80 Korean full term neonates whose serum bilirubin greater than 12 mg/dL with no obvious cause. The genomic DNA was also isolated from 164 Korean neonates of the control population. We studied a single nucleotide polymorphism (SNP) of 1956G>C in the untranslated region of the UGT1A1 gene by direct sequencing. RESULTS: Three of the 80 neonates with a serum bilirubin level above 12 mg/dL had homozygous mutation and 10 of the neonates with a serum bilirubin level above 12 mg/dL had heterozygous mutation. Thirteen of the 164 neonates of the control group had homozygous mutation and 16 neonates of the control group had heterozygous mutation. The allele frequency of 1956G>C polymorphism of UGT1A1 in the hyperbilirubinemia group was 10.0 percent, which was not significantly different from the allelic frequency of 12.8 percent in the control group. CONCLUSIONS: In this study, the 1956G>C polymorphism of the UGT1A1 gene was detected in the Korean neonates with neonatal hyperbilirubinemia. Our results indicated that this SNP is not associated with the prevalence of hyperbilirubinemia in Korean.
Asian Continental Ancestry Group ; Bilirubin ; DNA ; Gene Frequency ; Humans ; Hyperbilirubinemia ; Hyperbilirubinemia, Neonatal* ; Incidence ; Infant ; Infant, Newborn ; Metabolism ; Polymorphism, Single Nucleotide ; Prevalence ; Risk Factors ; Untranslated Regions

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Early Prediction of Bronchopulmonary Dysplasia in Very Low Birth Weight Infants with Mechanical Ventilation in the First Week of Life.

Eun Na CHOI ; Ran NAMGUNG ; Hoe Kyoung KOO ; Min Soo PARK ; Kook In PARK ; Chul LEE

Journal of the Korean Society of Neonatology.2005;12(2):150-157.

PURPOSE: Multifactorial in pathogenesis, bronchopulmonary dysplasia is difficult to predict based on any single factor, especially early in life. We evaluated clinical and ventilatory parameters in the first week of life, and their combinations were tested for early prediction of BPD. METHODS: Eighty-one very low birth weight (VLBW) infants born at gestational ages<32 weeks and mechanically ventilated for at least first 7 days were selected and classified into BPD (n=48, radiological findings and oxygen dependency at postconceptional age of 36 weeks) and non-BPD (n=33) groups. Clinical and ventilatory parameters on days 1, 4 and 7 were analyzed. Chi-square and t-test were used to compare individual variables between two groups. Multiple logistic regression analysis was done to identify risk factors for BPD. RESULTS: The mean gestational age and birth weight were lower in BPD group. In multivariate analysis, significant risk factors that predict BPD were gestational age<30 weeks (OR 0.112, 95% CI 0.016-0.767), maximum MAP > or =4.5 on day 7 (OR 3.982, 95% CI 1.046-15.162) and maximum FiO2> or =0.3 on day 7 (OR 7.626, 95% CI 1.570-37.054). The combination of these factors for prediction of BPD had a 79% positive predictive value with an 85% sensitivity. CONCLUSION: A number of clinical and ventilatory parameters in combination (gestation, maximum MAP and FiO2 on day 7) can predict BPD in VLBW infants early in life with a relatively high sensitivity and positive predictiveness. With early identification of infants prone to BPD, the clinicians may resort to more active measures to minimize lung injury and to prevent BPD.
Birth Weight ; Bronchopulmonary Dysplasia* ; Gestational Age ; Health Resorts ; Humans ; Infant* ; Infant, Newborn ; Infant, Very Low Birth Weight* ; Logistic Models ; Lung Injury ; Multivariate Analysis ; Oxygen ; Respiration, Artificial* ; Risk Factors

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Usefulness of Plasma B-type Natriuretic Peptide Assay as a Screening Tool for Infants with Suspected Congenital Heart Disease.

Young Shin YOON ; Jin LEE ; Bo Kyung JE ; So Hee EUN ; Hyung Jin KIM ; Byung Min CHOI ; Jong Tae PARK ; Kee Hwan YOO ; Young Sook HONG ; Chang Hee CHOI

Journal of the Korean Society of Neonatology.2005;12(2):141-149.

PURPOSE: B-type natriuretic peptide (BNP) is a cardiac neurohormone secreted predominantly from the ventricle in response to increased left and right ventricular pressure loads as well as volume loads. The aim of our study is to investigate the usefulness of plasma BNP assay as a screening tool for infants with suspected congenital heart disease (CHD). METHODS: Ninety-five infants less than 3 months of age with suspected CHD were enrolled and divided into a healthy control group (n=40) and a CHD group (n=50) according to physical examination, chest X-ray, electrocardiography and echocardiography. The CHD group was divided into the treatment group (n=15), requiring urgent treatment and the observation group (n=35), not requiring any treatment. Plasma BNP concentrations were measured using a commercial kit, Triage BNP(R) test kit. RESULTS: The mean BNP concentration of the CHD group was higher than that of the control group (639+/-1, 147 pg/mL versus 26+/-25 pg/mL, P<0.001). The mean BNP concentration of the treatment group was significantly higher than that of the observation group (1, 732+/-1, 629 pg/mL versus 171+/-229 pg/mL, P<0.001). The area under the Receiver Operating Characteristic curve for the detection of CHD was high: 0.821 (95% CI, 0.737-0.905, P<0.001). The best cut-off value of BNP concentration for the screening of CHD requiring urgent treatment was determined to be 282 pg/mL (sensitivity: 100%, negative predictive value: 100%). CONCLUSION: In infants, the plasma BNP measurement is useful and objective in screening the CHD infant without any specific professional skills. Especially in the outpatient department, it is very helpful to determine CHD infant requiring urgent treatment and thus an efficient consultation can be made to the pediatric cardiologist.
Echocardiography ; Electrocardiography ; Heart Defects, Congenital* ; Humans ; Infant* ; Mass Screening* ; Natriuretic Peptide, Brain* ; Outpatients ; Physical Examination ; Plasma* ; ROC Curve ; Thorax ; Triage ; Ventricular Pressure

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A Case of Neonatal Cholelithiasis Induced by Prolonged Lack of Enteral Feeding and Total Parenteral Nutrition.

Jung Sub SHIM ; Bum Chul PARK ; Young Jun HWANG ; Min Jung CHO ; Ji Young SEO ; Soo Jin JUNG ; Kyu Hyung LEE

Journal of the Korean Society of Neonatology.2004;11(1):93-98.

Cholelithiasis in infancy is a rare disorder. A number of conditions that occur in the neonatal period predispose to the development of cholelithiasis. Cholelithiasis is more marked in the premature than adult, because of the immaturity of the enterohepatic circulation of bile acids which renders the newborn more susceptible to the cholestatic effect of total parenteral nutrition (TPN). Parenteral nutrition associated cholelithiasis is the major indication for cholecystectomy in the pediatric age group because of severe complication, but a number of recent studies report spontaneous resolution of the stones. We report a case of a female infant with cholelithiasis diagnosed by ultrasonogram at 88 days of age which is probably induced by prolonged lack of enteral feeding and TPN.
Adult ; Bile Acids and Salts ; Cholecystectomy ; Cholelithiasis* ; Enteral Nutrition* ; Enterohepatic Circulation ; Female ; Humans ; Infant ; Infant, Newborn ; Parenteral Nutrition ; Parenteral Nutrition, Total* ; Ultrasonography

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Intrahepatic Arterio-Venous Shunts in a Patient with Hypergalactosemia Detected by Neonatal Screening.

Joo Hee HONG ; Joo Pil UM ; Byung Ho CHA ; Baek Keun LIM ; Jong Soo KIM

Journal of the Korean Society of Neonatology.2004;11(1):87-92.

We report a case of 15 days old newborn presenting with hypergalactosemia detected by newborn screening who had intrahepatic arterio-venous shunts with multiple pin-head sized cutaneous hemangiomas. Plasma level of galactose was elevated to 11.3 mg/dL at age of 7 days, but the activity of galactose-metabolizing enzymes including galactose-1- phosphate uridyltransferase, galactokinase, and uridine diphosphate galactose-4-epimerase were all normal. Intrahepatic arterio-venous shunts were diagnosed by abdominal ultrasonography with color doppler ultrasonography and abdominal computed tomography. At age of 3 months, the plasma level of galactose further elevated to 14.73 mg/dL, at which time lactose-free cows milk formula was started. At age of 6 months, the plasma level of galactose decreased to within normal range with disappearance of previously noted multiple cutaneous hemangiomas. In hypergalactosemia of the newborn, the intrahepatic shunts should be considered as a possible cause, once hereditary enzyme deficiencies have been ruled out.
Galactokinase ; Galactose ; Hemangioma ; Humans ; Infant, Newborn ; Mass Screening ; Milk ; Neonatal Screening* ; Plasma ; Reference Values ; Ultrasonography ; Ultrasonography, Doppler, Color ; Uridine Diphosphate

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Successful Long Term Antifungal Agent Therapy for Renal Candidiasis without Surgical Drainage in a Very Low Birth Weight Infant.

Ji Hyun PARK ; Im Jung CHOI ; Sung Mi KIM ; Jin Hwa JUNG ; Gil Hyun KIM

Journal of the Korean Society of Neonatology.2004;11(1):81-86.

Improved survival rate of premature infants requiring intensive care lead into an increased risk for nosocomial infections such as disseminated fungal infection. Neonatal candida sepsis has become one of the most important causes of neonatal morbidity and mortality. The most common site of end organ involvement in premature infants with candidemia is the kidney. But no consensus has been reached concerning the treatment of candidemia in the newborn. We recently experienced a case of premature infant who was diagnosed as renal candidiasis with microabscess formation due to Candida Albicans and patient was treated successfully with long term liposomal amphotericin B and fluconazole therapy without surgical drainage.
Amphotericin B ; Candida ; Candida albicans ; Candidemia ; Candidiasis* ; Consensus ; Cross Infection ; Drainage* ; Fluconazole ; Humans ; Infant, Newborn ; Infant, Premature ; Infant, Very Low Birth Weight* ; Critical Care ; Kidney ; Mortality ; Sepsis ; Survival Rate

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Spontaneous Ileal Perforation in Very Low Birth Weight Infant without Evidence of Necrotizing Enterocolitis.

So Young CHOI ; Im Jung CHOI ; Sung Mi KIM ; Jin Hwa JUNG ; Gil Hyun KIM ; Chang Mok SON

Journal of the Korean Society of Neonatology.2004;11(1):77-80.

Ongoing advances in the treatment of very-low-birth-weight infants have confronted us with a growing number of infants susceptible to acquired illnesses of the gastrointestinal tract. Although necrotizing enterocolitis has been regarded as the major cause of gastrointestinal perforation in preterm infants, the incidence of spontaneous perforation occurred in an apparently normal bowel is increasing. The risk factors for spontaneous intestinal perforation include prematurity, twin pregnancies, perinatal asphyxia, prior use of umbilical artery catheter, use of indomethacin and/or steroid, and bacterial or fungal sepsis. We report a case of spontaneous ileal perforation occurred in very low birth weight infant who was successfully treated with emergency operation.
Asphyxia ; Catheters ; Emergencies ; Enterocolitis, Necrotizing* ; Gastrointestinal Tract ; Humans ; Incidence ; Indomethacin ; Infant ; Infant, Newborn ; Infant, Premature ; Infant, Very Low Birth Weight* ; Intestinal Perforation ; Pregnancy, Twin ; Risk Factors ; Sepsis ; Umbilical Arteries

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A Case of Ondine's Curse with Hirschsprung Disease.

In Ok HWANG ; Eun Sil LEE

Journal of the Korean Society of Neonatology.2004;11(1):72-76.

Ondine's curse, also called congenital central alveolar hypoventilation, is a rare disorder involving failed automatic control of respiration in the absence of cardiopulmonary disease, resulting in inadequate ventilation with progressive hypercapnia and hypoxia during sleep. Although the exact pathophysiological mechanism remains unknown, it is thought that congenital defects in central chemoreceptor that originates from the neural crest cells may be responsible. This syndrome is often reported in association with Hirschsprung disease, and their co-occurrence suggests a common etiology, involving abnormal distribution and/or migration of neutral crest cells. We report a case of Ondine's curse with Hirschsprung disease in a 1-day-old neonate required endotracheal intubation and assisted ventilation.
Anoxia ; Congenital Abnormalities ; Hirschsprung Disease* ; Humans ; Hypercapnia ; Infant, Newborn ; Intubation, Intratracheal ; Neural Crest ; Respiration ; Sleep Apnea, Central ; Ventilation

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Analgesic Effect of Oral Glucose and Pacifiers in Term Neonates during Minor Procedures.

Ki Soo KIM ; Eun Young CHO ; Jae Woo LIM ; Eun Jung CHEON ; Kyong Og KO ; Young Hyuk LEE ; Kir Young KIM

Journal of the Korean Society of Neonatology.2004;11(1):65-71.

PURPOSE: Newborns may undergo many kinds of minor procedures. Since painful events during procedures may cause adverse effects on growth and/or development, nonpharmacological way to relive pain have been extensively studied including oral glucose and pacifiers. This study was undertaken to evaluate the analgesic effects of orally administered glucose and pacifiers in term neonates during minor procedures using validated behavioral pain rating system. METHODS: Randomized prospective studies with 81 term infants were assigned to one of three treatment groups: placebo (2 ml sterile water), glucose (2 ml 30% glucose), and pacifier (2 ml 30% glucose followed by a pacifier) during heelsticks. Intensity of pain was assessed by Douleur Aigue Nouveau-ne scale (DAN scale). RESULTS: Median pain scores (interquartile) during minor procedure and after 30 seconds were 7 (6-10), 4 (3-8) for sterile water; 7 (3-8), 1 (0-5) for 30% glucose; 4 (2-6), 1 (0-1) for 30% glucose and pacifiers, respectively. P values for comparisons of sterile water versus 30% glucose, and 30% glucose versus 30% glucose plus pacifiers were 0.019, 0.035 for during the procedure and 0.006, 0.034 for after 30 seconds, respectively. CONCLUSION: The analgesic effect of oral glucose during minor procedure is clinically apparent in full term neonates. Pacifiers plus glucose have a synergetic analgesic effect in neonates. These simple and safe interventions should be widely used during minor procedures in term neonates.
Glucose* ; Humans ; Infant ; Infant, Newborn* ; Pacifiers* ; Prospective Studies ; Water

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Cumulative Effects of Positive Pressure Ventilation on the Development of Chronic Lung Disease in Very Low Birth Weight Infants.

Bo Hoon KANG ; Ji Hyun YOON ; Min Soo PARK ; Ran NAMGUNG ; Chul LEE

Journal of the Korean Society of Neonatology.2004;11(1):54-64.

PURPOSE: Barotrauma is one of the most important risk factors of chronic lung disease (CLD) in neonates. However, so-often called `high pressure' does not specify the magnitude or duration of positive pressure ventilation in relation to development of CLD. We investigated whether cumulative effect of positive pressure ventilation over time was more closely associated with CLD than the magnitude of maximal peak inspiratory pressure (PIP) or mean airway pressure (MAP). METHODS: Clinical data were collected from 53 very low birth weight (VLBW) infants (24; CLD and 29; non-CLD) who were treated with mechanical ventilation due to respiratory distress syndrome (RDS) at the neonatal intensive care unit (NICU) in Yonsei University Medical Center. Areas under the pressure-time curve for peak inspiratory pressure (AUCPIP), mean airway pressure (AUCMAP), and FiO2 (AUCFiO2) were calculated from hourly changes of the ventilatory parameters plotted against time during the first 5 days of life, and were compared with the magnitudes of episodic, maximum PIP, MAP or FiO2. RESULTS: The AUCMAP and AUCPIP in CLD group was significantly higher than in non-CLD group (639.8+/-142.9 cmH2O hr vs. 474.2+/-148.0 cmH2O hr, P<0.001 1412.2+/-480.3 cmH2O hr vs. 992.7+/-517.0 cmH2O hr, P=0.004, respectively). But there were no significant differences between two groups in maximum MAP and maximum PIP (P> 0.05). After statistical correction for independent factors related to development of CLD, AUCMAP was shown to be most meaningful. CONCLUSION: Our data are suggestive of the importance of cumulative barotrauma over time in CLD rather than episodic barotrauma caused by cross-sectional or intermittent high peak pressures.
Academic Medical Centers ; Barotrauma ; Humans ; Infant* ; Infant, Newborn ; Infant, Very Low Birth Weight* ; Intensive Care, Neonatal ; Lung Diseases* ; Lung* ; Positive-Pressure Respiration* ; Respiration, Artificial ; Risk Factors

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