Regional Disparities in the Infant Mortality Rate in Korea Between 2001and 2021

Background@#The infant mortality rate (IMR) has been considered an important indicator of the overall public health level. Despite improvements in recent decades, regional inequalities in the IMR have been reported worldwide. However, there are no Korean epidemiological studies on regional disparities in the IMR. @*Methods@#We extracted causes of death data from the Statistics Korea through the Korean Statistical Information Service database between 2001 and 2021. The total and regional IMRs were calculated to determine regional disparities. Based on causes of death and using Seoul as a reference, the excess infant deaths and population attributable fractions (PAFs) were calculated for 15 other metropolitan cities and provinces. The average annual percent changes by region from 2001 to 2021 were obtained using a joinpoint regression program. To assess inequities in IMR trends, the rate ratios (RRs) and rate differences (RDs) of the 15 regions were calculated by dividing the study period into period 1 (2001–2007), period 2 (2008–2014), and period 3 (2015–2021). @*Results@#The overall IMR in Korea was 3.64 per 1,000 live births, and the IMRs in the 14 regions were relatively higher than that in Seoul, with RRs ranging from 1.15 (95% confidence interval [CI], 1.04, 1.27) in Jeju-do to 1.62 (95% CI, 1.54, 1.71) in Daegu, over the total study period. Significant differences in infant deaths by region were observed for all causes of death, with PAFs ranging from 2.2% (95% CI, 1.7, 2.6) in Gyeonggi-do to 38.4% (95% CI, 38.1, 38.6) in Daegu. The leading cause of excess infant deaths was perinatal problems. The IMR disparities in the relative and absolute measures decreased from 1.44 (1.34, 1.54) to 1.21 (1.10, 1.31) for RRs and from 0.79 (0.63, 0.96) to 0.30 (0.15, 0.45) for RDs between periods 1 and 2, followed by an increase from 1.21 (1.10, 1.31) to 1.36 (1.21, 1.53) for RRs and from 0.30 (0.15, 0.45) to 0.51(0.36, 0.67) for RDs between period 2 and 3. @*Conclusion@#Infant death is associated with place of residence and regional gaps have recently widened again in Korea. An in-depth investigation of the causes of regional disparities in infant mortality is required for effective governmental policies to achieve equality in infant health.

Neonatal Pneumothorax in Late Preterm and Full-Term Newborns with respiratory Distress: A Single-Center Experience

Purpose@#To evaluate the incidence rate, clinical characteristics, and perinatal outcomes of pneumothorax in late preterm and full-term newborns with respiratory distress and analyze the risk factors associated with pneumothorax. @*Methods@#Infants born at ≥34 weeks’ gestation with respiratory distress and pneumothorax admitted between February 2014 and December 2020 were enrolled in this study. The pneumothorax group (n=36) was matched to the control group (n=144) in a 1:4 ratio, based on gestational age and birth weight. Risk factors were identified using logistic regression analysis with backward stepwise selection. @*Results@#The incidence of pneumothorax during the study period was 1.36% (38/2,788). All patients were diagnosed with pneumothorax within 48 hours after birth, and increased oxygen demand was the most common symptom. The proportion of mortality and perinatal morbidity, such as intraventricular hemorrhage ≥grade 3, was significantly higher in the pneumothorax group than in the control group. The risk factors associated with pneumothorax were the need for positive pressure ventilation in the delivery room (odds ratio [OR], 3.40; 95% confidence interval [CI], 1.26 to 9.12; P=0.015) and a higher fraction of inspired oxygen to achieve an oxygen saturation of ≥90% on admission (OR, 1.06; 95% CI, 1.03 to 1.09; P<0.001). @*Conclusion@#Pneumothorax should be suspected in late preterm and full-term newborns with respiratory distress within the first 3 days of life. Based on these risk factors, early diagnosis can reduce perinatal mortality and morbidity.

Association between the Nutritional Status at Birth and Need for Respiratory Support on the First Day of Life

PURPOSE: Nutritional markers, such as total protein, albumin, and vitamin D have been reportedly associated with neonatal outcomes. This study aimed to assess the correlation between nutritional markers at birth and the need for respiratory support on the first day of life. METHODS: This retrospective study included 94 newborns admitted to the neonatal intensive care unit of Kyungpook National University Children's Hospital between March and December 2017. We measured levels of nutritional markers, including serum total protein, albumin, ferritin, 25-hydroxyvitamin D (25-OHD), and prealbumin, from cord blood or blood sample within 24 hours after birth. Respiratory support was defined as the use of nasal continuous positive airway pressure, humidified high-flow nasal cannula, or mechanical ventilation on the first day of life. RESULTS: The mean gestational age and birth weight were 36.6±2.3 weeks and 2,714±575 g, respectively. Serum total protein, albumin, prealbumin, and ferritin levels at birth were significantly correlated with gestational age and birth weight. Total protein, albumin, ferritin, and 25-OHD levels were not correlated with the time to recover birth weight after adjusting for gestational age. Moreover, prealbumin levels at birth were significantly lower in small-for-gestational-age infants than in appropriate-for-gestational-age infants. The need for respiratory support on the first day of life decreased 0.058- and 0.001-fold for every 1 g/dL increase in serum total protein (95% confidence interval [CI], 0.004 to 0.833; P=0.036) and albumin (95% CI, 0.000 to 0.136; P=0.009) levels, respectively. CONCLUSION: Nutritional status at birth could be associated with the need for respiratory support on the first day of life, regardless of the Apgar score.

Erratum: Correction of Error in Result: Comparison of Follow-up Courses after Discharge from Neonatal Intensive Care Unit between Very Low Birth Weight Infants with and without Home Oxygen

An important error in the result of Table 3 was confirmed in the article.

Neonatal Thrombocytopenia: Diagnostic Approach and Platelet Transfusion Guideline / 임상소아혈액종양

Neonatal thrombocytopenia, defined as platelet counts of less than 150,000/µL, is a frequent hematologic abnormality in neonatal period. Differential diagnosis of neonatal thrombocytopenia may be challenging to pediatric hematologists and neonatologists because neonatal thrombocytopenia is associated with diverse maternal or neonatal clinical conditions. An accurate diagnosis for neonatal thrombocytopenia will lead to appropriate evaluation and management. Platelet transfusion is the primary management of neonatal thrombocytopenia. Most thrombocytopenic newborns received platelet concentrates to prevent major hemorrhage or treat ongoing bleeding according to institutional policy. However, scientific evidences for benefit and consistent guideline for platelet transfusion in neonates are lacking, further investigation to establish the standard recommendation for platelet transfusion is needed. This article reviewed the diagnostic approach and current guideline for platelet transfusion management for neonatal thrombocytopenia.

Baller-Gerold Syndrome in a Premature Infant with a Mutation in the RECQL4 Gene

Baller-Gerold syndrome is a rare autosomal recessive disorder characterized by premature fusion of the cranial sutures and malformation of the upper limb extremities at birth. Although the pathogenesis of Baller-Gerold Syndrome is not fully understood, it is mainly caused by mutations in the RecQ like helicase 4 (RECQL4) gene located on chromosome 8q24.3, which encodes the RECQL4 protein involved in normal DNA replication and repair. This study reports the case of a female premature infant with craniosynostosis of bilateral coronal sutures, resulting in a dysmorphic face and hypoplastic thumbs on both hands at birth, which are consistent with the core characteristics of Baller-Gerold syndrome. Diagnostic whole exome sequencing of the patient revealed a homozygous deletion from exon 13 to 18 in the RECQL4 gene. To the best of my knowledge, this is the first reported case of Baller-Gerold syndrome with RECQL4 gene mutation confirmed by diagnostic whole exome sequencing in Korea.

Three-dimensional (3D) printing of mouse primary hepatocytes to generate 3D hepatic structure

PURPOSE: The major problem in producing artificial livers is that primary hepatocytes cannot be cultured for many days. Recently, 3-dimensional (3D) printing technology draws attention and this technology regarded as a useful tool for current cell biology. By using the 3D bio-printing, these problems can be resolved. METHODS: To generate 3D bio-printed structures (25 mm × 25 mm), cells-alginate constructs were fabricated by 3D bio-printing system. Mouse primary hepatocytes were isolated from the livers of 6–8 weeks old mice by a 2-step collagenase method. Samples of 4 × 10⁷ hepatocytes with 80%–90% viability were printed with 3% alginate solution, and cultured with well-defined culture medium for primary hepatocytes. To confirm functional ability of hepatocytes cultured on 3D alginate scaffold, we conducted quantitative real-time polymerase chain reaction and immunofluorescence with hepatic marker genes. RESULTS: Isolated primary hepatocytes were printed with alginate. The 3D printed hepatocytes remained alive for 14 days. Gene expression levels of Albumin, HNF-4α and Foxa3 were gradually increased in the 3D structures. Immunofluorescence analysis showed that the primary hepatocytes produced hepatic-specific proteins over the same period of time. CONCLUSION: Our research indicates that 3D bio-printing technique can be used for long-term culture of primary hepatocytes. It can therefore be used for drug screening and as a potential method of producing artificial livers.

Comparison of Follow-up Courses after Discharge from Neonatal Intensive Care Unit between Very Low Birth Weight Infants with and without Home Oxygen

In order to investigate the clinical impact of home oxygen use for care of premature infants, we compared the follow-up courses after neonatal intensive care unit (NICU) discharge between very low birth weight infants (VLBWIs) with and without home oxygen. We retrospectively identified 1,232 VLBWIs born at 22 to 32 weeks of gestation, discharged from the NICU of 43 hospitals in Korea between April 2009 and March 2010, and followed them up until April 2011. Clinical outcomes, medical service uses, and readmission and death rates during follow-up after the NICU discharge were compared between VLBWIs with (HO, n = 167) and those without (CON, n = 1,056) home oxygen at discharge. The HO infants comprised 13.7% of the total VLBWIs with significant institutional variations and showed a lower gestational age (GA) and birth weight than the CON infants. The HO infants had more frequent regular pediatric outpatient clinic visits (12.7 ± 7.5 vs. 9.5 ± 6.6; P < 0.010) and emergency center visits related to respiratory problems (2.5 ± 2.2 vs. 1.8 ± 1.4; P < 0.010) than the CON infants. The HO infants also had significantly increased readmission (adjusted hazard ratio [HR], 1.60; 95% confidence interval [CI], 1.25–2.04) and death risks (adjusted HR, 7.40; 95% CI, 2.06–26.50) during up to 2 years following the NICU discharge. These increased readmission and death risks in the HO infants were not related to their prematurity degree. In conclusion, home oxygen use after discharge increases the risks for healthcare utilization, readmission, and death after NICU discharge in VLBWIs, regardless of GA, requiring more careful health care monitoring during their follow-up.

Comparison of Safety of Sedatives Versus General Anesthesia in Laser Therapy for Retinopathy of Prematurity

PURPOSE: Laser therapy for retinopathy of prematurity (ROP) is commonly performed under general anesthesia (GA). However, the use of GA for laser therapy in neonates who have already undergone invasive ventilation may lead to postoperative complications such as severe apnea or the development of ventilator dependency. This study aimed to examine the safety of administering only sedatives instead of GA in extremely low birth weight (ELBW) infants, who are the usual recipients of laser therapy for ROP. METHODS: Among ELBW infants who were admitted to the neonatal intensive care unit (NICU) at Samsung Medical Center between January and December 2012, we studied 30 patients treated with laser therapy for ROP. RESULTS: The mean gestational age of the patients was 24.6±1.9 weeks, with a mean birth weight of 646±140 g. The mean age and weight of patients at the time of laser therapy for ROP was 36.3±2.3 weeks and 1,470±423 g. In terms of sedatives, 14 patients (46.7%) were administered chloral hydrate alone, 14 (46.7%) were administered a combination of chloral hydrate and midazolam, one was administered midazolam alone, and one received fentanyl. Prior to laser therapy, 16 patients (53.5%) had established self-respiration, 13 (43.3%) relied on non-invasive ventilation and one patient relied on invasive mechanical ventilation. Following laser therapy, two patients who initially had exhibited self-respiration required respiratory assistance via non-invasive positive pressure ventilation and no patient required intratracheal intubation. CONCLUSIONS: We conclude that the use of sedatives may be safe for ELBW infants who undergo laser therapy for ROP.

Clinical Characteristics of Early Onset Sepsis in Micropreemie Born at 25 or Less than 25 Weeks of Gestational Age / 대한주산의학회잡지

PURPOSE: The aim of this study is to determine the clinical characteristics of early onset sepsis (EOS) in micropreemie. METHODS: We retrospectively reviewed medical records of 107 extremely preterm infants born at 25 or less than 25 weeks of gestation and admitted to the neonatal intensive care unit of Samsung Medical Center from January 2013 to August 2015. Infants were divided into two groups based on the presence of culture-proven EOS in the first 7 days of life. Retrospective analysis of perinatal factors and laboratory findings within the first week of life was done between two groups. We compared the neonatal outcomes among two groups. RESULTS: Culture-proven EOS was diagnosed in 11 of 107 infants (10.3%). Main pathogen of EOS was Staphylococcus epidermidis (45.5%). There were no significant differences between control group and EOS group in gestational age, birth weight, Apgar score, delivery type and pathologic chorioamnionitis. Among 11 infants with EOS, 9 showed fetal tachycardia (P=0.001). And EOS group presented lower platelet count at 3rd day and 7th day of life than that of control group (P=0.033, P=0.045). Neonatal outcomes in EOS group were compatible with control group. Main cause of death was sepsis in EOS group. CONCLUSION: In micropreemie, EOS is important factor of mortality. Our data suggest that fetal tachycardia and low platelet count during the first 7 days of life were associated with EOS.

Clinical Characteristics of Early Onset Sepsis in Micropreemie Born at 25 or Less than 25 Weeks of Gestational Age / 대한주산의학회잡지

PURPOSE: The aim of this study is to determine the clinical characteristics of early onset sepsis (EOS) in micropreemie. METHODS: We retrospectively reviewed medical records of 107 extremely preterm infants born at 25 or less than 25 weeks of gestation and admitted to the neonatal intensive care unit of Samsung Medical Center from January 2013 to August 2015. Infants were divided into two groups based on the presence of culture-proven EOS in the first 7 days of life. Retrospective analysis of perinatal factors and laboratory findings within the first week of life was done between two groups. We compared the neonatal outcomes among two groups. RESULTS: Culture-proven EOS was diagnosed in 11 of 107 infants (10.3%). Main pathogen of EOS was Staphylococcus epidermidis (45.5%). There were no significant differences between control group and EOS group in gestational age, birth weight, Apgar score, delivery type and pathologic chorioamnionitis. Among 11 infants with EOS, 9 showed fetal tachycardia (P=0.001). And EOS group presented lower platelet count at 3rd day and 7th day of life than that of control group (P=0.033, P=0.045). Neonatal outcomes in EOS group were compatible with control group. Main cause of death was sepsis in EOS group. CONCLUSION: In micropreemie, EOS is important factor of mortality. Our data suggest that fetal tachycardia and low platelet count during the first 7 days of life were associated with EOS.

Delayed Cord Clamping Compared with Cord Milking in Preterm Neonates

PURPOSE: To evaluate the safety and feasibility of delayed cord clamping compared with umbilical cord milking in premature infants less than 32 weeks of gestation. METHODS: This study was performed by 1:2 case-control match. Infants received delayed cord clamping (DCC) for one minute (DCC group, n=10, May 2014-October 2015) were compared with perinatal factors-matching controls, who received umbilical cord milking (CM, CM group, n=20, May 2014-October 2015) or who received immediate cord clamping (ICC, ICC group, n=20, January 2008-December 2008). The primary outcome was hematocrit during the first 28 days. Secondary outcomes included delivery room management, selected neonatal morbidities and mortality. RESULTS: Baseline characteristics were comparable in all the three groups. The median hematocrit level at 1st day and 3rd day was significantly higher in the DCC group (54.3±6.2%, 53.6±5.6%) as compared with the CM group (48.0±7.7%, 43.2±7.8%) or ICC group (47.2±7.5%, 45.8±6.3%). The DCC group had reductions in red blood cell transfusion within the first two weeks of life compared to the CM group (10% vs. 50%, P=0.03). The DCC group compared to the CM group had no increment in respiratory intervention in the delivery room and hypothermia on admission. There was no difference between DCC and CM in mortality, intraventricular hemorrhage, bronchopulmonary dysplasia, necrotizing enterocolitis, severe retinopathy of prematurity and sepsis. CONCLUSION: Delayed cord clamping for 1 minute in preterm infants may be a safe and feasible method to increase initial hematocrit and reduce transfusion compared with umbilical cord milking.

A Case of Late Onset Neonatal Bacteremia and Meningitis Caused by Streptococcus lutetiensis / 소아감염

Invasive infection of the Streptococcus bovis group in a neonate is rare. In cases reported to date, the pathogen of neonatal S. bovis infections is usually Streptococcus gallolyticus subsp. pasteurianus (S. bovis biotype II/2). Streptococcus lutetiensis (S. bovis biotype II/1) was identified using 16S rRNA and tuf gene sequence analysis of the isolates from blood and cerebrospinal fluid (CSF) of a fever-presenting 28-day-old male. Blood culture analysis was performed using automatic equipment (VITEK 2) and identified Streptococcus infantarius supsp. infantarius, yet we were unable to get accurate results from the CSF culture. The fever subsided on the second day of hospitalization, and the patient was discharged without neurologic complication after 14 days of antibiotic therapy. In this case, we were able to accurately identify the pathogen using molecular genetic methods. To our knowledge, this is the first case of late onset neonatal bacteremia and meningitis caused by S. lutetiensis.

Treatment Outcomes and Prognostic Factors in Children with Non-Hodgkin Lymphoma at a Single Institution / 임상소아혈액종양

BACKGROUND: Treatment outcomes of children with non-Hodgkin lymphoma (NHL) have dramatically improved in recent years. However, there are few studies on the outcomes of pediatric NHL in Korea.METHODS: We retrospectively analyzed the outcomes of 34 children diagnosed with NHL and treated at Kosin University Gospel Hospital from Jan. 1987 to Dec. 2009, according to age, lactate dehydrogenase (LDH) level, histology, stage and involved site.RESULTS: The mean age of the subjects was 9.0 years. The abdomen and head/neck regions were the most common primary sites. On histologic classification, Burkitt lymphoma was the most common, followed by lymphoblastic lymphoma, diffuse large B-cell lymphoma, anaplastic large cell lymphoma, and unclassifiable, with respective incidences of 35.3%, 23.5%, 17.6%, 17.6%, and 5.9%. Various combination chemotherapies according to the diagnosis with mean treatment duration of 14.9 months showed 5 year event free survival (EFS) and 5 year overall survival (OS) rate of 67.7+/-8.0% and 79.3+/-7.0%, respectively. Nine out of the 34 patients relapsed, and the 5 year OS rates for those who relapsed vs. 25 patients without relapse were 44.4+/-16.6%, vs. 92.0+/-5.4%, respectively (P<0.01). Although 5 year EFS rate varied according to stage, 5 year OS rate were not different according to age, sex, LDH, stage, histology, or treatment period.CONCLUSION: The outcome of children with NHL treated in our setting was comparable to those of other large centers in Korea. No factor other than stage, including LDH, histologic subtype showed significant prognostic value.

Treatment Outcomes and Prognostic Factors in Children with Non-Hodgkin Lymphoma at a Single Institution / 임상소아혈액종양

BACKGROUND: Treatment outcomes of children with non-Hodgkin lymphoma (NHL) have dramatically improved in recent years. However, there are few studies on the outcomes of pediatric NHL in Korea. METHODS: We retrospectively analyzed the outcomes of 34 children diagnosed with NHL and treated at Kosin University Gospel Hospital from Jan. 1987 to Dec. 2009, according to age, lactate dehydrogenase (LDH) level, histology, stage and involved site. RESULTS: The mean age of the subjects was 9.0 years. The abdomen and head/neck regions were the most common primary sites. On histologic classification, Burkitt lymphoma was the most common, followed by lymphoblastic lymphoma, diffuse large B-cell lymphoma, anaplastic large cell lymphoma, and unclassifiable, with respective incidences of 35.3%, 23.5%, 17.6%, 17.6%, and 5.9%. Various combination chemotherapies according to the diagnosis with mean treatment duration of 14.9 months showed 5 year event free survival (EFS) and 5 year overall survival (OS) rate of 67.7+/-8.0% and 79.3+/-7.0%, respectively. Nine out of the 34 patients relapsed, and the 5 year OS rates for those who relapsed vs. 25 patients without relapse were 44.4+/-16.6%, vs. 92.0+/-5.4%, respectively (P<0.01). Although 5 year EFS rate varied according to stage, 5 year OS rate were not different according to age, sex, LDH, stage, histology, or treatment period. CONCLUSION: The outcome of children with NHL treated in our setting was comparable to those of other large centers in Korea. No factor other than stage, including LDH, histologic subtype showed significant prognostic value.

The relationship between catechol-O-methyltransferase gene polymorphism and coronary artery abnormality in Kawasaki disease / 소아과

PURPOSE: Many gene polymorphisms are associated with coronary artery abnormalities in Kawasaki disease. Catechol-O-methyltransfe rase (COMT) plays an important role in the metabolism of catecholamines, catechol estrogen, and catechol drugs. Polymorphisms of the COMT gene are reported to be associated with myocardial infarction and coronary artery abnormalities. The aim of this study was to evaluate the relationship between COMT gene polymorphisms and coronary artery abnormalities in Kawasaki disease patients. METHODS: One hundred and one Korean children with Kawasaki disease and 306 healthy Korean control subjects were enrolled in this study. The polymorphisms of the COMT gene were analyzed by direct sequencing. RESULTS: There were no differences in the genotype and allelic frequency of the rs4680 and rs769224 polymorphic sites between Kawasaki disease and control subjects. Further, no significant difference was found in the rs4680 polymorphism between patients with coronary artery abnormalities and patients without coronary artery abnormalities (codominant P=0.32, dominant P=0.74, recessive P=0.13). However, the distribution of the rs769224 polymorphism was significantly different between patie nts with coronary artery abnormalities and patients without coronary artery abnormalities (codominant P=0.0077, dominant P=0.0021, recessive P=0.16). CONCLUSION: Our results indicate that the polymorphisms of the rs769224 gene might be related to the development of coronary artery abnormalities in Kawasaki disease.

Regional Variation in the Expression of 'Tight Junction' Protein 'Occludin' in the Epidermis / 대한피부과학회지

BACKGROUND: 'Tight junctions (TJ)' have recently been identified in the granular cell layer of the human epidermis, where they contribute to the normal adhesion between keratinocytes and to the physiologic barrier function of the epidermis. Among the TJ proteins in the epidermis, occludin is an important transmembrane protein, which is considered as a major component among the TJ. OBJECTIVE: The purpose of this study is to investigate whether regional variation exists in the expression of tight junction protein occludin in normal human epidermis. METHODS: The immunofluorescence staining for occludin was performed with specimens taken from different areas of normal skin (4 from each of 7 different anatomical sites, including the scalp, face, posterior neck, upper arm, abdomen, lower back, and inner thigh). The degrees of the expression-intensity in each specimen were estimated with the reciprocals of positive end-point titer of occludin in an immunofluorescence study. RESULTS: The highest degree expression-intensity of the TJ protein occludin among the different areas of normal epidermis was observed on the face and abdomen with a titer of 600. The lowest intensity of expression of occludin was seen in the epidermis from the upper arm. Skin specimens from the scalp, neck, back, and leg demonstrated intermediate degrees of the expression in intensity. CONCLUSION: The expression of occludin in the skin samples obtained from different locations of the body showed a statistically significant variation. This suggests that there is a certain degree of regional variation in the expression-intensity of TJ protein 'occludin' in the human epidermis.

The relationship between Gly71Arg and TATA box polymorphism of UGT1A1 gene and prolonged hyperbilirubinemia of breast milk feeding infant in Korean / 소아과

PURPOSE: It has been known that breast milk cause prolonged unconjugated hyperbilirubinemia. UGT1A1 is a important gene of uridine diphosphate glucuronosyltransferase (UGT) which has a major role of bilirubin metabolism. These findings suggest that there is a relationship between UGT1A1 gene mutation and prolonged jaundice of breast feeding infant. The aim of study was to investigate whether a polymorphism of the UGT1A1 gene exist in prolonged hyperbilirubinemia of breast milk feeding Korean infant. METHODS: The genomic DNA was isolated from 50 full term Korean neonates, who had greater than a 10 mg/dL of serem bilirubin after 2 weeks of birth with no significant cause, and the other genomic DNA was isolated from 162 full term Korean neonates of the control population. Both group fed breast milk. We performed direct sequencing of TATA box and Gly71Arg polymorphism of the UGT1A1 gene. RESULTS: Two of the 50 neonates with hyperbilirubinemia had AA polymorphism, and 40 had GA polymorphism. Five of the 129 neonates of the control group had AA polymorphism, and 4 had GA polymorphism. The allele frequency of G>A polymorphism in the hyperbilirubinemia group was 44.0%; it was significantly higher than 5.4% of the control group. TATA box polymorpism was not different both group significantly. CONCLUSION: Our result indicated that Gly71Arg polymorphism is associated with the prolonged hyperbilirubinemia of breast milk-feeding infant in Korean, while TATA box polymorphism is not associated with the prolonged hyperbilirubinemia of breast milk-feeding infant in Korean.

Glutathione S-transferase polymorphism of neonatal hyperbilirubinemia in Korean neonates / 소아과

PURPOSE: Glutathione S-transferase (GST) is a polymorphic supergene family of detoxification enzymes that are involved in the metabolism of numerous diseases. Several allelic variants of GSTs show impaired enzyme activity and are suspected to increase the susceptibility to diseases. Bilirubin is bound efficiently by GST members. The most commonly expressed gene in the liver is GSTM1, and GSTT1 is expressed predominantly in the liver and kidneys. To ascertain the relationship between GST and neonatal hyperbilirubinemia, the distribution of the polymorphisms of GSTT1 and GSTM1 were investigated in this study. METHODS: Genomic DNA was isolated from 88 patients and 186 healthy controls. The genotypes were analyzed by polymerase chain reaction (PCR). RESULTS: The overall frequency of the GSTM1 null was lower in patients compared to controls (P=0.0187, Odds ratio (OR) =0.52, 95% confidence interval (CI), 0.31-0.88). Also, the GSTT1 null was lower in patients compared to controls (P=0.0014, OR=0.41, 95% CI=0.24-0.70). Moreover, the frequency of the null type of both, in the combination of GSTM1 and GSTT1, was significantly reduced in jaundiced patients (P=0.0008, OR=0.31, 95% CI=0.17-0.61). CONCLUSION: We hypothesized that GSTM1 and GSTT1 might be associated with neonatal hyperbilirubinemia. However, the GSTT1 and GSTM1 null type was reduced in patients. Therefore the null GSTT1, null GSTM1, and null type of both in the combination of GSTM1 and GSTT1 may be not a risk factor of neonatal jaundice.

The relation between angiotensin converting enzyme (ACE) gene polymorphism and neonatal hyperbilirubinemia in Korea / 소아과

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?12 mg/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.