Blood Culture Proven Early Onset Sepsis and Late Onset Sepsis in Very-Low-Birth-Weight Infants in Korea

Lee, Soon Min,Chang, Meayoung,Kim, Ki-Soo The Korean Academy of Medical Sciences 2015 JOURNAL OF KOREAN MEDICAL SCIENCE Vol.30 No.suppl1

<P>Neonatal sepsis remains one of the most important causes of death and co-morbidity in very-low-birth-weight (VLBW) infants. The aim of this study was to determine the current incidences of early-onset sepsis (EOS) and late-onset sepsis (LOS), the distribution of pathogens, and the impact of infection on co-morbidities in VLBW infants. We analyzed the data including sepsis episode from 2,386 VLBW infants enrolled in Korean Neonatal Network from January 2013 to June 2014. We defined EOS as a positive blood culture occurring between birth and 7 days of life and LOS after 7 days of life. Sepsis was found in 21.1% of VLBW infants. The risk of sepsis was inversely related to birth weight and gestational age. EOS was found in only 3.6% of VLBW infants, however the mortality rate was as high as 34.1%. EOS was associated with the increased odds for bronchopulmonary dysplasia and intraventricular hemorrhage. The vast majority of EOS was caused by Gram-positive organisms, particularly coagulase-negative staphylococci (30.6%). LOS developed in 19.4% of VLBW infants with a 16.1% mortality rate. Pathogens in LOS were dominated by coagulase-negative staphylococci (38.3%). Twenty-five percent and fifty percent of first LOS episode occurred after 12 days and 20 days from birth, respectively. Younger and smaller VLBW infants showed the earlier occurrence day for the 25% of first LOS episode. This study provides a recent nationwide epidemiology of sepsis in VLBW infants in Korea. Based on this study, successful strategies to reduce infections would improve survival and reduce morbidity.</P>

Clinical Study of 31 Polydactyly Cases Admitted to Neonatal Intensive Care Unit

( Yongwook Lee ),( Mihyeon Gang ),( Meayoung Chang ),( Wungjoo Song ),( Sookza Kim ) 대한주산의학회 2019 Perinatology Vol.30 No.3

Objective: To investigate polydactyly in neonates who were admitted to neonatal intensive care unit (NICU) due to urgent medical needs. Methods: Retrospective chart review of polydactyly neonates admitted to NICU of Chungnam National University Hospital between September 1997 and September 2018 was carried out. Patient data, type of polydactyly accompanying anomalies, genetic testing and clinical follow-up after discharge were reviewed and analyzed. Results: Thirty-one neonates with polydactyly were admitted to NICU during the selected period. 61.3% were male. Most were admitted for the evaluation and treatment for other congenital anomalies. Ten neonates (32%) were small for gestational age. The most frequently observed forms of polydactyly were preaxial hand polydactyly and postaxial foot polydactyly. Cardiac anomalies (35%) were more frequent in the population than genitourinary tract anomalies (22%), central nervous system anomalies (22%), gastrointestinal tract anomalies (19%) and congenital hypothyroidism. Four neonates showed abnormal genetic finding. Three neonates were diagnosed syndromic disorder after discharge (CATCH22 syndrome, VACTERL association, Joubert syndrome). Pregnancy of these neonates was complicated by maternal diabetes (13%), hepatitis B virus (6%), exposure to herbal medicine or smoking (6%), pre-eclampsia and hypertension. Only one case in the study had positive family history for polydactyly. Conclusion: Polydactyly could serve as a clue to syndromes and genetic disorders if associated with multiple major organ anomalies.

종교상의 이유로 수혈을 거부하여 사망한 메틸 말로닌산 혈증 환아 2례

장하원,이용욱,장미영,길홍량,김숙자,Jang, Ha Won,Lee, Yong Wook,Chang, Meayoung,Kil, Hong Ryang,Kim, Sook Za 대한유전성대사질환학회 2018 대한유전성대사질환학회지 Vol.18 No.2

Jehovah's Witnesses do not accept blood transfusions, because of their particular interpretation of the Old and New Testaments. When people with such religious convictions are in need of medical care, their faith and belief may become an obstacle for proper treatment, and pose legal, ethical, and medical challenges for the health care providers. We report two inherited metabolic disorder cases in South Korea where the infants died whilst under medical care because of parental refusal of blood transfusions for religious reasons. Case 1 had methylmalonic acidemia, Down syndrome and associated congenital cardiac anomalies requiring surgery. Case 2 had anemia and methylmalonic acidemia requiring dialysis to treat hyperammonemia and metabolic acidosis. For effective medical management, they needed life-saving blood transfusions. As a part of alternative treatment, Erythropoietin was administered in both cases. As a result, two babies died from their extremely low hemoglobin and hematocrit. The hemoglobin concentrations below 2.7 g/dL without cardiac problem and 5.4 g/dL with cardiac anomaly complicated by pulmonary hypertension are considered life-threatening hemoglobin threshold. The medical professional must respect and accommodate religious beliefs of the patients who can make informed decisions. However, when parents or legal guardians oppose medical treatment of their babies and incompetent care receivers on cultural and religious grounds, the duty to assist and save persons exposed to serious danger, particularly life-threatening events must come first.

융모양막염 산모로부터 출생한 극소저체중아에서 발생한 선천성 피부 칸디다증 1예

김경민 ( Kyungmin Kim ),김도연 ( Doyeon Kim ),홍동균 ( Dongkyun Hong ),정경은 ( Kyung Eun Jung ),서영준 ( Young-joon Seo ),장미영 ( Meayoung Chang ),이영 ( Young Lee ) 대한피부과학회 2023 대한피부과학회지 Vol.61 No.1

Congenital cutaneous candidiasis (CCC) is a rare disease caused by Candida spp. that occurs within the first six days of life. Its exact pathogenesis remains unclear; however, the suspected pathomechanisms include maternal vulvovaginal candidiasis and ascending infections. A preterm, 1,550-g male infant presented with generalized maculopapules and pustules on his whole body. The patient’s mother had undergone cervical cerclage at a gestational age (GA) of 29 weeks due to an incompetent internal os of the cervix. The pregnancy was terminated at GA 37-week because the mother developed chorioamnionitis. We performed a potassium hydroxide microscopic examination, skin biopsy, and fungal culture test on the baby. Microscopic examination of the skin scrapings revealed pseudohyphae with yeasts, and Candida albicans was identified in the culture test. Maternal placental biopsy revealed fungal organisms, and the baby was diagnosed with CCC due to an ascending infection. The skin lesions completely disappeared after intravenous liposomal amphotericin B treatment. (Korean J Dermatol 2023;61(1):52∼56)

A neonate with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome from a consanguineous Pakistani family

Kim, Yoo-Mi,Lim, Han Hyuk,Gang, Mi Hyeon,Lee, Yong Wook,Kim, Sook Za,Kim, Gu-Hwan,Yoo, Han-Wook,Ko, Jung-Min,Chang, Meayoung Korean Society of Medical Genetics and Genomics 2019 대한의학유전학회지 Vol.16 No.2

Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive urea cycle disorder. HHH is caused by a deficiency of the mitochondrial ornithine transporter protein, which is encoded by the solute carrier family 25, member 15 (SLC25A15) gene. Recently, government supported Korean newborn screening has been expanded to include a tandem mass spectrometry (MS/MS) measurement of ornithine level. We report a case of a neonate with HHH syndrome showing a normal MS/MS measurement of ornithine level. A female newborn was admitted to neonatal intensive unit due to familial history of HHH syndrome. Her parents were consanguineous Parkistani couple. The subject's older sister was diagnosed with HHH syndrome at age of 30 months based on altered mental status and liver dysfunction. Even though the subject displayed normal ammonia and ornithine levels based on MS/MS analysis, a molecular test confirmed the diagnosis of HHH syndrome. At 1 month of age, amino acid analysis of blood and urine showed high levels of ornithine and homocitrulline. After 11 months of follow up, she showed normal growth and development, whereas affected sister showed progressive cognitive impairment despite no further hyperammonemia after protein restriction and standard therapy. Our report is in agreement with a previous Canadian study, which showed that neonatal samples from HHH syndrome patients demonstrate normal ornithine levels despite having known mutations. Considering the delayed rise of ornithine in affected patients, genetic testing, and repetitive metabolic testing is needed to prevent patient loss in high risk patients.

A neonate with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome from a consanguineous Pakistani family

김유미,임한혁,Mi Hyeon Gang,Yong Wook Lee,Sook Za Kim,Gu-Hwan Kim,Han-Wook Yoo,Jung-Min Ko,Meayoung Chang 대한의학유전학회 2019 대한의학유전학회지 Vol.16 No.2

Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive urea cycle disorder. HHH is caused by a deficiency of the mitochondrial ornithine transporter protein, which is encoded by the solute carrier family 25, member 15 (SLC25A15) gene. Recently, government supported Korean newborn screening has been expanded to include a tandem mass spectrometry (MS/MS) measurement of ornithine level. We report a case of a neonate with HHH syn-drome showing a normal MS/MS measurement of ornithine level. A female newborn was admitted to neonatal intensive unit due to familial history of HHH syndrome. Her parents were consanguineous Parkistani couple. The subject’s older sister was diagnosed with HHH syndrome at age of 30 months based on altered mental status and liver dysfunction. Even though the subject displayed normal ammonia and ornithine levels based on MS/MS analysis, a molecular test conἀrmed the diagnosis of HHH syndrome. At 1 month of age, amino acid analysis of blood and urine showed high levels of ornithine and homoc-itrulline. After 11 months of follow up, she showed normal growth and development, whereas affected sister showed progres-sive cognitive impairment despite no further hyperammonemia after protein restriction and standard therapy. Our report is in agreement with a previous Canadian study, which showed that neonatal samples from HHH syndrome patients demonstrate normal ornithine levels despite having known mutations. Considering the delayed rise of ornithine in affected patients, ge-netic testing, and repetitive metabolic testing is needed to prevent patient loss in high risk patients.

The Readmission of Preterm Infants of 30-33 Weeks Gestational Age within 1 Year Following Discharge from Neonatal Intensive Care Unit in Korea

Lee, Jang Hoon,Kim, Myo Jing,Kim, Young Don,Lee, Soon Min,Song, Eun Song,Ahn, So Yoon,Kim, Chun Soo,Lim, Jae Woo,Chang, Meayoung,Jin, Hyun-Seung,Hwang, Jong Hee,Lee, Woo Ryoung,Chang, Yun Sil The Korean Society of Neonatology (KAMJE) 2014 Neonatal medicine Vol.21 No.4