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A Case of Incontinentia Pigmenti with Multiple Brain Infarction.

Tae Hee KIM ; Young Jin CHOI ; Hyun Kyung PARK ; Chang Ryul KIM ; Hyun Ju LEE

Neonatal Medicine.2013;20(2):228-232. doi:10.5385/nm.2013.20.2.228

Incontinentia pigmenti (IP) is a rare X-linked dominant disease that is typically lethal to males and usually affect female patients. IP is a neurocutaneous disorder, involving the ectodermal tissues such as the skin, eyes, teeth, hair, and central nervous system. The pathogenesis of IP is linked to the gene mutation in the NF-kappa B essential modulator (NEMO) on chromosome Xq28. We experienced one case of newborn with multiple vesiculobullous skin lesions over the entire body after birth. Skin biopsy and histologic studies revealed suspected IP stage I and the genetic analysis of the NEMO confirmed IP diagnosis. A brain MRI showed multiple cerebral infarctions and the infant has shown delayed development in follow-up clinic.
Biopsy ; Brain ; Brain Infarction ; Central Nervous System ; Cerebral Infarction ; Ectoderm ; Eye ; Female ; Follow-Up Studies ; Hair ; Humans ; Incontinentia Pigmenti ; Infant ; Infant, Newborn ; Male ; Neurocutaneous Syndromes ; NF-kappa B ; Parturition ; Skin ; Tooth

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Breastfeeding Rate in Below 6 Months Infants during Recent 6-year in Korea Based on Childcare Database.

Won Seok LEE ; Jahyang CHO ; Yong Sung CHOI ; Sung Hoon CHUNG ; Chong Woo BAE ; Ji A JUNG

Neonatal Medicine.2013;20(2):221-227. doi:10.5385/nm.2013.20.2.221

PURPOSE: Breastfeeding is ideal diet for young infant and worldwidely recommended by many guidelines of authoritative centers. We investigated breastfeeding rate of young infant during recent 6-year in Korea and analyzed the tendency of it. METHODS: The subjectives were young infants whose mothers registered in childcare database of Mail dairies Co., Ltd. We surveyed exclusive breast feeding rate, mixed feeding rate, exclusive artificial milk feeding rate and ever breastfed rate at 1st week after birth and every months of age from the first to sixth months and assessed the changes of them during recent 6-year (2007-2012) in Korea. RESULTS: During the recent 6-year (2007-2012), the means of exclusive breastfeeding rates from the birth to 6th month in age were 34% for 1 week, 38% for 1 month, 42% for 2 months, 39% for 3 months, 33% for 4 months, 27% for 5 months and 25% for 6 months. The exclusive breastfeeding rate had been increased at 1 week, 1 month, 4 to 6 months aged infants during the recent 6-year. The mixed feeding rate had not been changed significantly and the exclusive artificial milk feeding rate had been decreased. Also, ever breastfed rate had been increased at 1 week to 2 months aged infants and had not been changed significantly at 4 to 6 months aged infants. CONCLUSION: The young infant's breastfeeding rate in Korea had been increased in recent 6-year from 2007 to 2012 and should be further increased.
Aged ; Breast Feeding ; Diet ; Humans ; Infant ; Korea ; Milk ; Milk, Human ; Mothers ; Parturition ; Postal Service

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Clinical Features and Neurodevelopmental Outcomes of Infants with Congenital Cytomegalovirus Infection: Single NICU Experience.

Ji Hee KIM ; Sung Hun CHUNG ; Yong Sung CHOI ; Byong Sop LEE ; Ki Soo KIM ; Ellen Ai Rhan KIM

Neonatal Medicine.2013;20(2):214-220. doi:10.5385/nm.2013.20.2.214

PURPOSE: To assess the clinical features, hearing loss and neurodevelopmental outcomes of infants with congenital cytomegalovirus (CMV) infection and to discover significant brain magnetic resonance imaging (MRI) findings that predict poor neurodevelopmental outcomes. METHODS: The medical records of 31 infants who were diagnosed with congenital CMV infection at the Neonatal Intensive Care Unit of Asan Medical Center between 2002 and 2012 after CMV was isolated from their urine within the second week of their life were retrospectively reviewed. The long-term neurodevelopmental outcomes of the infants were monitored using the Bayley Scale of Infant Development II, the Korean Infants' Development Screening Test and the Wechsler Scale of Intelligence, as appropriate. RESULTS: The infants' mean gestational age was 36.3+/-3.2 weeks and their mean birth weight was 2,395+/-715 g. Microcephaly were detected in three of them (9.7%), and petechiae and hepatosplenomegaly were detected in one (3.2%). Ten infants (32.2%) and nine infants (29.0%) showed preterm and intrauterine growth retardation, respectively. Of the 27 infants with whom long-term follow-up was possible, six (22.2%) showed developmental disabilities. The brain MRI findings, which included ventriculomegaly, periventricular calcification, polymicrogyria, microcephaly and cerebellar hypoplasia, were correlated with the poor neurodevelopmental outcomes, but no correlation was found between the presence of periventricular cysts and that of white matter disease. Of the infants who survived, six (20.0%) had sensorineural hearing loss at the median age of 30.6 months. CONCLUSION: Congenital cytomegalovirus infection is one of the most frequent causes of intrauterine viral fetal infection and need to be distinguished if congenital infection is suspected. On the follow up observation, the hearing loss was observed in 20% of the patients. A long term neurological observation is required for the patients who had unusual impression on MRI.
Birth Weight ; Brain ; Cerebellum ; Child ; Child Development ; Cytomegalovirus ; Cytomegalovirus Infections ; Developmental Disabilities ; Fetal Growth Retardation ; Follow-Up Studies ; Gestational Age ; Hearing Loss ; Hearing Loss, Sensorineural ; Humans ; Infant ; Infant, Newborn ; Intelligence ; Intensive Care, Neonatal ; Leukoencephalopathies ; Magnetic Resonance Imaging ; Malformations of Cortical Development ; Mass Screening ; Medical Records ; Microcephaly ; Nervous System Malformations ; Purpura ; Retrospective Studies

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Comparison of Curosurf(R) versus Surfacten(R) in the Treatment of Respiratory Distress Syndrome.

Jeong Nam KIM ; Eun Jung SHIM

Neonatal Medicine.2013;20(2):207-213. doi:10.5385/nm.2013.20.2.207

PURPOSE: The goal of this study was to compare the effects of treatment of newborn babies with two different surfactants, Curosurf(R) and Surfacten(R). METHODS: We retrospectively reviewed the medical records from 2007 to 2009 and divided the patients into two groups: those who received Curosurf(R) (n=20) and those who received Surfacten(R) (n=21). We compared the groups for sex, gestational age (GA), birth weight, type of delivery, apgar score, maternal history, age at treatment, bronchopulmonary dysplasia (BPD), administration indomethacin for patent ductus arteriosus(PDA), necrotizing enterocolitis (NEC), intraventricular hemorrhage (IVH), periventricular leucomalacia (PVL), retinopathy of prematurity (ROP), pulmonary hemorrhage (PH), pneumothorax (PTX), duration of ventilation, need for oxygen, and administration. RESULTS: The demographic and clinical variables were similar in both groups. The gestational age for Curosurf(R) and Surfacten(R) were 32.7+/-3.1 and, 30.5+/-4.3 weeks, respectively (P=0.08). Six newborns in the Curosurf(R) group and 8 in the Surfacten(R) group developed BPD (P=0.59). No significant differences were noted for NEC, IVH, PVL, ROP, PH, PTX between the two groups (IVH, P=0.14; PVL, P=0.94; ROP P=0.94; PTX P=0.34). The mean duration of ventilation was 16.8 days with Curosurf(R) and 23.7 days with Surfacten(R), but these differences were not statistically significant (P=0.43). The differences in duration of need for oxygen and administration were also not statistically significant (P=0.92, 0.91, respectively). CONCLUSION: This study indicated no significant differences between Curosurf(R) and Surfacten(R). However, because of its convenience and the merit of minimal touching of the babies, the use of Curosurf(R) is recommended.
Apgar Score ; Birth Weight ; Bronchopulmonary Dysplasia ; Diterpenes ; Enterocolitis, Necrotizing ; Gestational Age ; Hemorrhage ; Humans ; Hydrogen-Ion Concentration ; Indomethacin ; Infant, Newborn ; Leukomalacia, Periventricular ; Medical Records ; Oxygen ; Pneumothorax ; Retinopathy of Prematurity ; Retrospective Studies ; Surface-Active Agents ; Ventilation

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Effect of Short-term Exposure of Different Concentrations of Hyperoxia on Fetal Alveolar Type II Cell Death.

Hyeon Soo LEE

Neonatal Medicine.2013;20(2):199-206. doi:10.5385/nm.2013.20.2.199

PURPOSE: Lung injury imposed by hyperoxia is the most important cause of bronchopulmonary dysplasia (BPD) in premature lungs, and hyperoxia has the chief biological effect of inducing cell death. The objective of this study was to investigate the response of cell death in fetal alveolar type II cells (FATIICs) exposed to different concentrations of hyperoxia for 36 h. METHODS: FATIICs were isolated on embryonic day 19 and exposed to 65%- or 85%-oxygen for 36 h. Cells in room air were used as controls. FACScan was performed in hyperoxic and control samples at 0/6/12/24/36 h, and the patterns of cell death were compared at each time point using flow-cytometry. RESULTS: Cell necrosis as measured by selective propidium iodide staining increased significantly from 12 h of 65%-hyperoxia and 6 h of 85%-hyperoxia, respectively. Cell necrosis increased 1.6-fold, 3.0-fold and 4.6-fold after 12 h, 24 h, and 36 h, respectively during 65%-hyperoxia and increased by 2.4-fold, 3.1-fold, 6.3-fold, and 8.8-fold after 6 h, 12 h, 24 h, and 36 h, respectively during 85%-hyperoxia compared to controls. Apoptotic cells as measured by selective Annexin-V staining peaked at 1.3% at 24 h of 65%-hyperoxia and peaked at 1.2% at 6 h of 85%-hyperoxia, respectively and then decreased rapidly. CONCLUSION: This study shows that exposure to sublethal and lethal hyperoxia increases necrosis of FATIICs remarkably from the early stage of hyperoxia. These findings support the idea that short-term exposure to oxygen from birth may contribute to the evolution of "new" BPD in preterm lungs.
Bronchopulmonary Dysplasia ; Cell Death ; Humans ; Hyperoxia ; Infant, Newborn ; Lung ; Lung Injury ; Necrosis ; Oxygen ; Parturition ; Propidium

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Denaturing Gradient Gel Electrophoresis for Detection of Bacterial Population and Diversity in Amniotic Fluids and Neonatal Gastric Fluids.

Young Don KIM ; Sun Nyoung YU ; Seong Chol KIM ; Soon Cheol AHN

Neonatal Medicine.2013;20(2):189-198. doi:10.5385/nm.2013.20.2.189

PURPOSE: Intra-amniotic infection (IAI) is often polymicrobial, and the 16S rDNA PCR assay has a major limitation that its interpretation is difficult in the presence of multiple 16S rDNAs. Denaturing gradient gel electrophoresis (DGGE) can overcome this limitation by separating PCR products based on sequence. We performed the DGGE analysis to investigate bacterial prevalence and diversity in amniotic fluids from pregnant women with preterm births and gastric fluids from their newborns. METHODS: DNA was extracted from bacterial cells in amniotic fluid (AF) and gastric fluid (GF) and was amplified with universal 16S rDNA primers. For DGGE analysis, the PCR products were loaded onto polyacrylamide gels that were made with denaturing gradients. RESULTS: Bacterial 16S rDNA was detected by PCR from all AF and GF samples. The bacterial species in AF samples were the following: Lactobacillus reuteri (87.0%), uncultured Enterococcus species (65.2%), Ureaplasma urealyticum (13.0%), and Enterococcus faecalis (4.3%). The bacterial species in GF samples were the following: Lactobacillus reuteri (95.2%), uncultured Enterococcus species (42.9%), and Ureaplasma urealyticum (4.8%). Two or more species were identified from 69.6% of AF and 47.6% of GF samples. CONCLUSION: We suggest that DGGE analysis allows improved understanding of microbial diversity and community in AF and GF.
Acrylic Resins ; Amniotic Fluid ; Collodion ; Denaturing Gradient Gel Electrophoresis ; DNA ; DNA, Ribosomal ; Enterococcus ; Enterococcus faecalis ; Female ; Gels ; Humans ; Infant, Newborn ; Infant, Premature ; Lactobacillus reuteri ; Polymerase Chain Reaction ; Pregnant Women ; Premature Birth ; Prevalence ; Ureaplasma urealyticum

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Functional Analysis of Neonatal Intensive Care Centers and Effective Operation Plan.

Eun Sun KIM ; Seung Han SHIN ; Han Suk KIM

Neonatal Medicine.2013;20(2):179-188. doi:10.5385/nm.2013.20.2.179

Regional hub neonatal intensive care centers are opening supported by Ministry of Health and Welfare, with the need for more neonatal intensive care unit (NICU) beds response to increasing number of prematurity. Besides beds expansion, functional role of NICU is important and the evaluation tool of functional analysis of NICU is necessary. In this review, admission of preterm infant born before 32 gestational weeks was considered as a functional component and the annual number of those babies was used as an activity marker. The activity of NICU was higher with increased bed number, but also increased equipment, NICU personnel, obstetric personnel were independent factors for the higher NICU activity. Levels of NICU can be defined according to the activity, and reference bed size, equipment, personnel can be defined according to each level. In reverse, functional analysis of NICU can be performed with known bed size or equipment predicting activity level. Meanwhile, the evaluation of 13 regional hub NICU revealed that they partially contributed to the regionalization of NICU, and the activity was increased in all regional hub NICUs. Three regional hub NICUs showed markedly increased activity after opening, and those centers showed increased NICU personnel and obstetric personnel compared to other centers. In terms of regional hub government support, multilateral plan should be operated, besides simple bed size, considering distribution of different functional level of regional NICUs and leaking patient in the region.
Hospital Bed Capacity ; Humans ; Infant, Newborn ; Infant, Premature ; Intensive Care, Neonatal

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A Case of Wolf-Hirschhorn Syndrome with Periventricular Nodular Heterotopia Presenting with Status Epilepticus.

Bong Sul SUH ; Keun Hyeok KO ; Kon Hee LEE ; Tae Jung SUNG

Neonatal Medicine.2015;22(4):233-237. doi:10.5385/nm.2015.22.4.233

Wolf-Hirschhorn syndrome is a congenital disorder associated with partial deletion of the short arm of chromosome 4. The majority of patients showed characteristic facial anomalies - so called "Greek-Helmet" appearances - mental retardation, growth retardation, and developmental delay. Here we report the case of a 3-year-old girl who was diagnosed as having Wolf-Hirschhorn syndrome immediately at birth with distinct facial anomalies and an abnormal chromosomal karyotype [46,XX,del(4)(p14)]. The patient later presented with status epilepticus and magnetic resonance imaging showed periventricular nodular heterotopia.
Arm ; Child, Preschool ; Chromosomes, Human, Pair 4 ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Female ; Humans ; Intellectual Disability ; Karyotype ; Magnetic Resonance Imaging ; Parturition ; Periventricular Nodular Heterotopia* ; Status Epilepticus* ; Wolf-Hirschhorn Syndrome*

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A Novel MUT Gene Mutation Detected in a Female Infant with Methylmalonic Acidemia.

Woo Sun SONG ; Byung Jin SONG ; Hyung Doo PARK ; Won Duck KIM

Neonatal Medicine.2015;22(1):51-54. doi:10.5385/nm.2015.22.1.51

Methylmalonic acidemia (MMA) is an autosomal recessive metabolic disease. MMA results from a deficiency of L-methylmalonyl-CoA mutase (encoded by MUT), its cofactor 5-deoxyadenosylcobalamin (MMAA, MMAB, and MMADHC), or a deficiency of methylmalonyl CoA-epimerase (MCEE). We report the case of a 5-day-old infant with MMA in which a missense and a novel nonsense mutation in MUT were present. Direct sequencing analysis of MUT revealed a heterozygous c.1106G>A (p.Arg369His) mutation in exon 6 and a heterozygous c.362_368dupAGTTCTA (p.Tyr123*) mutation in exon 2; the latter results in a premature stop codon.
Codon, Nonsense ; Exons ; Female ; Humans ; Infant* ; Metabolic Diseases

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Cleft Palate Associated with Congenital Lipoma of the Palate in a Newborn.

Jae Hee LEE ; Min Seon CHOI ; Jeong Yeol YANG ; Sang Kee PARK

Neonatal Medicine.2015;22(1):48-50. doi:10.5385/nm.2015.22.1.48

Lipoma is relatively uncommon in the oral cavity, representing 1-5% of benign oral tumors. Lipoma of the oral cavity may occur in any region; the buccal mucosa, tongue, lip, and mouth floor are among the common sites. The majority of cases of oral lipoma occur after the age of 40 years, and it is not observed frequently in children. Congenital lipoma of the palate is extremely rare. Here we present a rare case of congenital lipoma of the palate associated with cleft palate of a neonate, and review the relevant literature. Surgical excision of the tumor was successful. The present case is the third case of congenital lipoma of the palate associated with cleft palate reported in the literature.
Child ; Cleft Palate* ; Humans ; Infant, Newborn* ; Lip ; Lipoma* ; Mouth ; Mouth Floor ; Mouth Mucosa ; Palate* ; Tongue

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