Association of Moderate Hypothermia at Admission with Short-Term and Long-Term Outcomes in Extremely Low Birth Weight Infants

Purpose@#Extremely low birth weight (ELBW) infants exhibit immature thermoregulation and are easily exposed to hypothermia. We investigated the association between hypothermia on admission with short- and long-term outcomes. @*Methods@#Medical records of ELBW infants admitted to the neonatal intensive care unit of a tertiary medical center between June 2012 and February 2017 were retrospectively analyzed. Upon admission, the axillary body temperature was measured. Moderate hypothermia was defined as admission temperature below 36 ℃. @*Results@#A total of 208 infants with gestational age of 26.4±2.3 weeks and birth weight of 746.7±154.9 g were included. Admission temperature ranged from 33.5 to 36.8 ℃ (median 36.1 ℃). Univariate analyses of maternal and infant characteristics were performed for moderately hypothermic and control (normothermic to mildly hypothermic) infants. Lower gestational age, lower birth weight, and vaginal delivery correlated with moderate hypothermia. Logistic regression analyses adjusted for confounders revealed that the incidence of hemodynamically significant patent ductus arteriosus (hsPDA) was associated with moderate hypothermia in ELBW infants. Moreover, abnormal mental developmental index scores on the Bayley Scales of Infant Development II at a corrected age of 18 to 24 months were associated with moderate hypothermia, but not with the psychomotor developmental index, incidence of blindness, deafness, or cerebral palsy. @*Conclusion@#Moderate hypothermia at admission is not only correlated with short-term neonatal morbidities such as hsPDA, but may also be associated with long-term neurodevelopmental impairment in ELBW infants. Future large-scale studies are required to clarify the long-term consequences of hypothermia upon admission.

Effects of Recombinant Human Erythropoietin Administration in Premature Infants with Severe Intraventricular Hemorrhage: A Single-Center Experience

Purpose@#We investigated the effects of early postnatal administration of erythropoietin (EPO) on neurodevelopmental outcomes and morbidities in preterm infants with severe grades of intraventricular hemorrhage (IVH). @*Methods@#We retrospectively reviewed the medical records of preterm infants of gestational age 23+0 weeks to 31+6 weeks, who were diagnosed with severe grades of IVH and received EPO over at least 2 weeks. We compared clinical characteristics, major complications, and neurodevelopmental impairment between the two groups. The primary outcome was severe neurodevelopmental impairment at 18 to 26 months of corrected age. Severe neurodevelopmental impairment was defined as a mental developmental index or psychomotor developmental index of <70 on the Bayley Scales of Infant Development II or diagnosis of cerebral palsy. @*Results@#The study included 33 preterm infants (mean gestational age 25.2±1.6 weeks and mean birth weight 775.1±224.5 g). EPO was administered at a dose of 400 or 1,000 IU/kg thrice weekly and was maintained over a mean period of 58.6± 25.9 days beginning from 10.7±6.9 days after birth. We observed no difference in perinatal characteristics between the EPO (n=14) and the control group (n=19). Similarly, severe neurodevelopmental impairment rates did not differ between the EPO (85.7%) and control groups (78.9%). The incidence of neonatal morbidities including bronchopulmonary dysplasia, necrotizing enterocolitis, and retinopathy of prematurity was also similar between the EPO and control groups. @*Conclusion@#Early administration of EPO did not reduce the risk of severe neurodevelopmental impairment in preterm infants with severe IVH.

Survey on current preparedness of neonatal resuscitation in delivery rooms in Korea

Purpose@#We aimed to survey current status of preparedness for neonatal resuscitation in delivery rooms in Korea. @*Methods@#We analyzed data regarding preparedness for the resuscitation in terms of personnel, equipment, and education using a questionnaire, which was developed by the Korean Association of Cardiopulmonary Resuscitation. From August 2020 through January 2021, the questionnaires were sent to hospitals affiliated with the Korean Association of Maternity Hospitals or the Korean Neonatal Network (KNN) operated by the Korean Society of Neonatology. As per the affiliated society, the hospitals were grouped as the maternity hospitals or the KNN hospitals. The questionnaires were delivered in 3 steps: mailout, electronic mail, and phone calls. @*Results@#Response rate was 21.3% (115 of 541) and 65.3% (49 of 75) in the maternity and KNN hospitals, respectively. The maternity hospitals showed a higher mean number of delivery and fewer pediatricians. In the KNN hospitals, pediatricians played a leading role during the resuscitation, but in the maternity hospitals, their role as a leader was less conspicuous. The KNN hospitals were better equipped with masks of variable sizes, oxygen blender, T-piece resuscitator, and electrocardiographic monitor (all Ps < 0.001). In the maternity hospitals, the preparedness of oxygen blender or T-piece resuscitator was positively associated with the number of pediatricians (P = 0.005). Although bag-mask ventilation was mostly feasible in both groups, endotracheal intubation was less feasible in the maternity hospitals (P = 0.007). The annual participation in resuscitation training for providers was higher in the KNN hospitals (P < 0.001). In the maternity hospitals, the annual participation was positively associated with the numbers of deliveries, obstetricians, and pediatricians. @*Conclusion@#This preliminary survey indicates the need for further improvement in preparing in personnel, equipment, and education, particularly in maternity hospitals.

A Multi-Center Educational Research Regarding Breastfeeding for Pediatrics Residents in Korea

Purpose@#Pediatricians have a significant responsibility to educate mothers about the importance of breastfeeding. However, there have been minimal efforts in the courses of resident training in Korea. The purpose of this study is to evaluate the change in knowledge and attitude before and after a 4-week breastfeeding educational intervention among multicenter residents. @*Methods@#Prospective interventional educational research was designed for residents at eight training hospitals in Korea. Institutional reviews were obtained in each hospital. The education curriculum consisted of 14 courses regarding breastfeeding theory and practice. These materials were used to teach pediatric residents for 4 weeks. Knowledge-based tests were administered before the course, and re-tests were administered after the course using different test items of similar levels. Test scores and survey responses were compared before and after the intervention. @*Results@#A total of 73 residents (1st year 20, 2nd year 23, 3rd year 16, and 4th year residents 14) from eight training hospitals completed the intervention. Their average age was 30.3±2.9 years, 17 (23.3%) were male, 22 (30.1%) were married, and eight had more than one child of their own. The mean pre-test score was 61.8±13.4 and the mean post-test score was 78.3±7.5 (P<0.001). The inter-grade difference in the score was significant in the pre-test (P=0.005), but not significant in the post-test (P=0.155). There were more responses of obtaining confidence after the intervention (P<0.001). @*Conclusion@#In our study, pediatric residents showed improvement in their knowledge and confidence level after 4 weeks of the breastfeeding curriculum. This will provide a basis for future policymaking in the training of pediatric residents regarding breastfeeding in Korea.

Survey on the Status of Breastfeeding in Korean Medical Institution Workers

Background@#Human breast milk is essential and provides irreplaceable nutrients for early humans. However, breastfeeding is not easy for various reasons in medical institution environments. Therefore, in order to improve the breastfeeding environment, we investigated the difficult reality of breastfeeding through questionnaire responses from medical institution workers. @*Methods@#A survey was conducted among 179 medical institution workers with experience in childbirth within the last five years. The survey results of 175 people were analyzed, with incoherent answers excluded. @*Results@#Of the 175 people surveyed, a total of 108 people (61.7%) worked during the day, and 33 people (18.9%) worked in three shifts. Among 133 mothers who stayed with their babies in the same nursing room, 111 (93.3%) kept breastfeeding for more than a month, but among those who stayed apart, only 10 (71.4%) continued breastfeeding for more than a month (P = 0.024). Ninety-five (88.0%) of daytime workers, 32 (94.1%) two-shift workers, and 33 (100%) three-shift workers continued breastfeeding for more than a month (P = 0.026). Workers in general hospitals tended to breastfeed for significantly longer than those that worked in tertiary hospitals (P = 0.003). A difference was also noted between occupation categories (P = 0.019), but a more significant difference was found in the comparison between nurses and doctors (P = 0.012). Longer breastfeeding periods were noted when mothers worked three shifts (P = 0.037). Depending on the period planned for breastfeeding prior to childbirth, the actual breastfeeding maintenance period after birth showed a significant difference (P = 0.002). Of 112 mothers who responded to the question regarding difficulties in breastfeeding after returning to work, 87 (77.7%) mentioned a lack of time caused by being busy at work, 82 (73.2%) mentioned the need for places and appropriate circumstances. @*Conclusion@#In medical institutions, it is recommended that environmental improvements in medical institutions, the implementation of supporting policies, and the provision of specialized education on breastfeeding are necessary to promote breastfeeding.

Targeting Risk Factors for the Control of Central Line-Associated Bloodstream Infection in the Neonatal Intensive Care Unit: A Single Tertiary Center Experience

Purpose@#The aim of this study was to estimate the effect of targeting risk factors for the control of central line-associated bloodstream infection (CLABSI) among high-risk infants in a tertiary neonatal intensive care unit (NICU). @*Methods@#Infants admitted to the NICU and diagnosed with CLABSI from January to December 2013 were eligible for inclusion to the study. The CLABSI group (n=47) was matched in a 1:2 ratio to the control group (n=94) based on gestational age, birth weight, and Score for Neonatal Acute Physiology-II. Risk factors for CLABSI were identified using the Cox proportional hazard model, and analysis of the effect of these risk factors targeting infection control was performed. @*Results@#The risk factors associated with CLABSI were prolonged central line dwell days (adjusted hazard ratio [HR], 1.028; 95% confidence interval [CI], 1.011 to 1.045; P=0.001), use of a silicone catheter (adjusted HR, 5.895; 95% CI, 1.893 to 18.355; P=0.002), surgical treatment (adjusted HR, 3.793; 95% CI, 1.467 to 9.805; P=0.006), and less probiotic supplementation (adjusted HR, 0.254; 95% CI, 0.068 to 0.949; P=0.042). By targeting these risk factors with a quality improvement initiative, the mean CLABSI incidence rate per 1,000 catheter-days decreased from 6.6 to 3.1 (P=0.004). @*Conclusion@#Targeting risk factors for infection control significantly reduced the rate of CLABSI among high-risk infants in the NICU.

Survival and Morbidities in Infants with Birth Weight Less than 500 g:a Nationwide Cohort Study

Background@#This study aimed to investigate the survival and morbidities of infants in the Korean Neonatal Network (KNN) with birth weight (BW) < 500 g. @*Methods@#The demographic and clinical data of 208 live-born infants with a BW < 500 g at a gestational age of ≥ 22 weeks who were treated in the neonatal intensive care units of the KNN between 2013 and 2017 were reviewed. @*Results@#The survival rate of the infants was 28%, with a median gestational age and BW of 24 3/7 weeks (range, 22 0/7 –33 6/7 ) and 440 g (range, 220–499), respectively. Multivariable Cox proportional hazards analysis demonstrated that survival to discharge was associated with longer gestation, higher BW, female sex, singleton gestation, use of any antenatal corticosteroids, and higher Apgar scores at 5 minutes. The overall survival rates were significantly different between the BW categories of < 400 g and 400–499 g. However, there was no significant difference in the incidence of any morbidity between the BW groups.Half of the deaths of infants with BW < 500 g occurred within a week of life, mainly due to cardiopulmonary and neurologic causes. The major causes of death in infants after 1 week of age were infection and gastrointestinal disease. Among the surviving infants, 79% had moderate to severe bronchopulmonary dysplasia, 21% underwent surgical ligation of patent ductus arteriosus, 12% had severe intraventricular hemorrhage (grade III–IV), 38% had sepsis, 9% had necrotizing enterocolitis (stage ≥ 2), and 47% underwent laser treatment for retinopathy of prematurity. The median length of hospital stay was 132 days (range, 69–291), and 53% required assistive devices at discharge. @*Conclusion@#Despite recent advances in neonatal intensive care, the survival and morbidity rates of infants with BW < 500 g need further improvement.

Targeting Risk Factors for the Control of Central Line-Associated Bloodstream Infection in the Neonatal Intensive Care Unit: A Single Tertiary Center Experience

Purpose@#The aim of this study was to estimate the effect of targeting risk factors for the control of central line-associated bloodstream infection (CLABSI) among high-risk infants in a tertiary neonatal intensive care unit (NICU). @*Methods@#Infants admitted to the NICU and diagnosed with CLABSI from January to December 2013 were eligible for inclusion to the study. The CLABSI group (n=47) was matched in a 1:2 ratio to the control group (n=94) based on gestational age, birth weight, and Score for Neonatal Acute Physiology-II. Risk factors for CLABSI were identified using the Cox proportional hazard model, and analysis of the effect of these risk factors targeting infection control was performed. @*Results@#The risk factors associated with CLABSI were prolonged central line dwell days (adjusted hazard ratio [HR], 1.028; 95% confidence interval [CI], 1.011 to 1.045; P=0.001), use of a silicone catheter (adjusted HR, 5.895; 95% CI, 1.893 to 18.355; P=0.002), surgical treatment (adjusted HR, 3.793; 95% CI, 1.467 to 9.805; P=0.006), and less probiotic supplementation (adjusted HR, 0.254; 95% CI, 0.068 to 0.949; P=0.042). By targeting these risk factors with a quality improvement initiative, the mean CLABSI incidence rate per 1,000 catheter-days decreased from 6.6 to 3.1 (P=0.004). @*Conclusion@#Targeting risk factors for infection control significantly reduced the rate of CLABSI among high-risk infants in the NICU.

Survival and Morbidities in Infants with Birth Weight Less than 500 g:a Nationwide Cohort Study

Background@#This study aimed to investigate the survival and morbidities of infants in the Korean Neonatal Network (KNN) with birth weight (BW) < 500 g. @*Methods@#The demographic and clinical data of 208 live-born infants with a BW < 500 g at a gestational age of ≥ 22 weeks who were treated in the neonatal intensive care units of the KNN between 2013 and 2017 were reviewed. @*Results@#The survival rate of the infants was 28%, with a median gestational age and BW of 24 3/7 weeks (range, 22 0/7 –33 6/7 ) and 440 g (range, 220–499), respectively. Multivariable Cox proportional hazards analysis demonstrated that survival to discharge was associated with longer gestation, higher BW, female sex, singleton gestation, use of any antenatal corticosteroids, and higher Apgar scores at 5 minutes. The overall survival rates were significantly different between the BW categories of < 400 g and 400–499 g. However, there was no significant difference in the incidence of any morbidity between the BW groups.Half of the deaths of infants with BW < 500 g occurred within a week of life, mainly due to cardiopulmonary and neurologic causes. The major causes of death in infants after 1 week of age were infection and gastrointestinal disease. Among the surviving infants, 79% had moderate to severe bronchopulmonary dysplasia, 21% underwent surgical ligation of patent ductus arteriosus, 12% had severe intraventricular hemorrhage (grade III–IV), 38% had sepsis, 9% had necrotizing enterocolitis (stage ≥ 2), and 47% underwent laser treatment for retinopathy of prematurity. The median length of hospital stay was 132 days (range, 69–291), and 53% required assistive devices at discharge. @*Conclusion@#Despite recent advances in neonatal intensive care, the survival and morbidity rates of infants with BW < 500 g need further improvement.

Perinatal outcome of fetuses with congenital high airway obstruction syndrome: a single-center experience

Objective@#To report our experience with management of fetuses with congenital high airway obstruction syndrome (CHAOS). @*Methods@#We retrospectively reviewed the cases of fetuses who were prenatally diagnosed and postnatally confirmed with CHAOS between 2010 and 2019 at Asan Medical Center, Seoul, Korea. @*Results@#Of 13 fetuses prenatally diagnosed with CHAOS, 7 were lost to follow-up and 6 were postnatally confirmed as having CHAOS. All fetuses, except one were delivered via cesarean section with an ex utero intrapartum treatment (EXIT) procedure. Two patients had coexisting congenital heart diseases requiring several cardiac surgeries following birth. Both of these patients demonstrated developmental delay; however, the remaining 4 had a normal development except for expressive language. Two infants died of respiratory complications, and the remaining 4 were alive at the end of the follow-up period. All 4 live patients underwent tracheostomy with planned reconstruction surgery. Three children are now able to phonate, and 1 can maintain a conservation. @*Conclusion@#The proper management of CHAOS using the EXIT procedure results in high survival and low hypoxemia-induced complication rates. Therefore, an accurate prenatal diagnosis is necessary for an appropriate perinatal management.

Campomelic Dysplasia with Sex Reversal Harboring a Novel Frameshift Mutation

Campomelic dysplasia (CD) is a rare genetic disease characterized by skeletal dysplasia that also affects several other organ systems. CD is caused by a SOX9 mutation. We here report a case of CD with a 46, XY karyotype and female external genitalia. This child was born with a weight of 3.12 kg after 37 weeks of gestation. She exhibited a number of characteristic features including a small thoracic cage, bowing of both femurs, clubbed feet, hypoplastic scapula, 11 pairs of ribs, a bell-shaped narrow thorax, micrognathia, macroglossia, a cleft palate, a flattened nasal bridge, and low set ears. She experienced additional distress because of the presence of a tracheal ring and because she had tracheomalacia. CD was diagnosed through nucleotide sequence analysis. A frameshift mutation, c.235delC (p.Gln79Argfs*31), was identified in the SOX9 gene that has not previously been reported.

Morbidity and Mortality of Very Low Birth Weight Infants with Congenital Heart Disease

Background and Objectives@#This study aimed to provide morbidity and mortality information on very low birth weight (VLBW) infants with congenital heart disease (CHD-VLBWs). @*Methods@#The study used a 10-year cohort of VLBW infants from a single institution. CHD was classified according to International Classification of Diseases, Version 9, Clinical Modification. Mortality and neonatal outcomes were assessed by comparing the CHD-VLBWs with gestational age- and birth weight-matched controls. @*Results@#The prevalence of CHD-VLBWs was 7.5% (79/1,050), mean gestational age was 31.1±3.2 weeks, and mean birth weight was 1,126.2±268.3 g; 50.6% of the infants were small for the gestational age. The CHD-VLBWs more commonly had bronchopulmonary dysplasia (BPD), and the longer they were exposed to oxygen, the more frequently they developed BPD. Those with cyanotic heart disease developed severe BPD more frequently. Necrotizing enterocolitis (NEC) occurred frequently in the CHD-VLBWs and was not associated with their feeding patterns. CHD-VLBWs had a higher mortality rate; prematurity-related diseases were the leading cause of death before surgery, while heart-related problems were the leading cause of death after surgery. We found no significant difference in mortality from prematurity-related disease between the CHD-VLBWs and controls. In the subgroup analysis of CHD, the cyanotic CHD group had a higher incidence of BPD and higher mortality rate than the acyanotic CHD group. @*Conclusions@#CHD-VLBWs showed higher BPD, NEC, and mortality rates than those without CHD. There was also a higher incidence of BPD and mortality in VLBW infants with cyanotic CHD than in those with acyanotic CHD.

Campomelic Dysplasia with Sex Reversal Harboring a Novel Frameshift Mutation

Campomelic dysplasia (CD) is a rare genetic disease characterized by skeletal dysplasia that also affects several other organ systems. CD is caused by a SOX9 mutation. We here report a case of CD with a 46, XY karyotype and female external genitalia. This child was born with a weight of 3.12 kg after 37 weeks of gestation. She exhibited a number of characteristic features including a small thoracic cage, bowing of both femurs, clubbed feet, hypoplastic scapula, 11 pairs of ribs, a bell-shaped narrow thorax, micrognathia, macroglossia, a cleft palate, a flattened nasal bridge, and low set ears. She experienced additional distress because of the presence of a tracheal ring and because she had tracheomalacia. CD was diagnosed through nucleotide sequence analysis. A frameshift mutation, c.235delC (p.Gln79Argfs*31), was identified in the SOX9 gene that has not previously been reported.

A Novel COL4A1 Mutation in a Neonate with Intrauterine Intraventricular Hemorrhage and Porencephaly

Collagen type IV alpha 1 (COL4A1) plays an important role in construction of the basement membranes of all human tissues, especially vessels. Mutations in COL4A1 lead to various multisystemic dysfunctions, including hereditary porencephaly, hemorrhagic stroke, hemiplegia, cerebral small vessel disease, and nephropathy. In this study, we describe a neonatal case featuring a novel de novo COL4A1 mutation, manifesting as fetal intraventricular hemorrhage and porencephaly. This patient is one of the youngest to have been diagnosed with the most severe phenotype. Our experience may assist clinicians in the diagnosis and management of this extremely rare genetic condition.

Response to Inhaled Nitric Oxide and Clinical Outcome in Very Low Birth Weight Infants with Early Pulmonary Hypertension

Purpose@#To determine the efficacy of inhaled nitric oxide (iNO) in very low birth weight (VLBW) infants with early pulmonary hypertension (PH). @*Methods@#We reviewed the medical records of 22 preterm infants who were born 20% and/or oxygenation index (OI) >20% from the baseline values at 1 hour after beginning iNO therapy. Cardiorespiratory support indices including OI, oxygen saturation index, and vasoactive-inotropic score (VIS) were serially obtained for 96 hours following iNO therapy. @*Results@#The mean gestational age of the patients was 26.1±2.0 weeks and the mean birth weight was 842±298 g. The mean OI at the start of iNO was 63.8±61.0. Impro vement in oxygenation indicated by prompt decrease in FiO 2 and OI from the base line values were observed 1 hour after beginning iNO therapy and lasted up to 96 hours. After iNO therapy, VIS increased until 24 hours and decreased thereafter. At 1 hour after iNO, 16 patients (73%) were classified as responders and six (27%) as nonresponders. Compared with nonresponders, responders did not demonstrate the beneficial effect of iNO in terms of short-term survival and neonatal complications.The 1-year mortality rate did not differ between responders (56%) and nonresponders (67%). @*Conclusion@#Although iNO treatment immediately improved oxygenation in most VLBW infants with early severe PH, the long-term mortality rate was high. A largescale study is needed to determine whether the initial response to iNO can predict patients’ survival.

Validity of the Korean Developmental Screening Test for very-low-birth-weight infants / 소아과

PURPOSE: The importance of the neurodevelopmental outcomes of very-low-birth-weight (VLBW) infants has been emphasized as their mortality rate has markedly improved. This study aimed to assess the validity of the Korean Developmental Screening Test (K-DST), a developmental screening tool approved by the Korean Society of Pediatrics, for the timely diagnosis of neurodevelopmental delay in VLBW infants. METHODS: Subjects included VLBW infants enrolled in the Korean Neonatal Network database between January 2012 and December 2014. The collected data were analyzed for sensitivity, specificity, positive predictive value, and negative predictive value (NPV) in the K-DST compared to those in the Bayley Scales of Infant Development-II for VLBW infants. RESULTS: A total of 173 patients were enrolled. Their mean gestational age and mean birth weight were 27.5±2.8 weeks and 980.5±272.1 g, respectively. The frequency of failed psychomotor developmental index (PDI) <85 was similar to that in at least one domain of K-DST <1 standard deviation. Failure in more than one K-DST domain compared with a mental developmental index (MDI) <85 showed a sensitivity and NPV of 73.2% and 75.0%, respectively. Failure in more than one K-DST domain compared with PDI <85 showed a sensitivity and NPV of 60.3% and 71.6%, respectively. Each K-DST domain had a stronger correlation with predicting a failing MDI <85 than a failing PDI <85 (P<0.05). CONCLUSION: K-DST could be a useful screening tool for predicting mental developmental delay in VLBW infants and referring them for neurodevelopmental assessments.

Chronic Placental Inflammation as a Risk Factor of Severe Retinopathy of Prematurity

BACKGROUND: Chronic placental inflammation (CPI) has been implicated in the pathogenesis of diseases in premature infants, whereas retinopathy of prematurity (ROP) is a major complication primarily affecting preterm and very low-birth-weight (VLBW) infants. This study aims to investigate the association between CPI and ROP in VLBW infants. METHODS: We performed a retrospective review of clinical records of VLBW infants born between 2013 and 2016. Placental pathology findings including CPI cases were analyzed using logistic regression to study infants’ morbidities and other clinical characteristics. RESULTS: A total of 402 infants with a mean (standard deviation) gestational age of 28.5 (2.8) weeks and birth weight of 1,027.2 (304.4) g were included. The incidence of ROP was 24.1%. CPI was found in 90 infants (22.4%), among which 28.9% (26 of 90) developed ROP, and 21.1% (19 of 90) underwent laser photocoagulation. Lower gestational age, lower birth weight, longer duration of oxygen supply, and presence of CPI were associated with the development of ROP. After adjustment for gestational age, birth weight, sex, duration of oxygen supply, and other overlapping placental pathology, CPI was associated with the odds for type 1 ROP that required laser photocoagulation (adjusted odds ratio, 2.739; 95% confidence interval, 1.112 to 6.749; p = .029). CONCLUSIONS: CPI was associated with severe ROP requiring treatment with laser photocoagulation in VLBW infants.

Case of mucinous adenocarcinoma of the lung associated with congenital pulmonary airway malformation in a neonate / 소아과

Congenital pulmonary airway malformation (CPAM), previously known as congenital cystic adenomatoid malformation, is a rare developmental lung abnormality associated with rhabdomyosarcoma, pleuropulmonary blastoma, and mucinous adenocarcinoma of the lung. We report an unusual case of a 10-day-old male newborn with a left lower lobe pulmonary cyst who underwent lobectomy, which revealed type II CPAM complicated by multifocal mucinous adenocarcinoma. KRAS sequencing revealed a somatic mutation in Codon12 (GGT → GAT), suggesting the development of a mucinous adenocarcinoma in the background of mucinous metaplasia. Mucinous adenocarcinoma is the most common lung tumor associated with CPAM, but it generally occurs in older children and adults. Further, all cases in the literature are of type I CPAM. This case in a neonate indicates that malignant transformation can occur very early in type II CPAM.

RNA-Seq for Gene Expression Profiling of Human Necrotizing Enterocolitis: a Pilot Study

Necrotizing enterocolitis (NEC) characterized by inflammatory intestinal necrosis is a major cause of mortality and morbidity in newborns. Deep RNA sequencing (RNA-Seq) has recently emerged as a powerful technology enabling better quantification of gene expression than microarrays with a lower background signal. A total of 10 transcriptomes from 5 pairs of NEC lesions and adjacent normal tissues obtained from preterm infants with NEC were analyzed. As a result, a total of 65 genes (57 down-regulated and 8 up-regulated) revealed significantly different expression levels in the NEC lesion compared to the adjacent normal region, based on a significance at fold change ≥ 1.5 and P ≤ 0.05. The most significant gene, DPF3 (P < 0.001), has recently been reported to have differential expressions in colon segments. Our gene ontology analysis between NEC lesion and adjacent normal tissues showed that down-regulated genes were included in nervous system development with the most significance (P = 9.3 × 10⁻⁷; P(corr) = 0.0003). In further pathway analysis using Pathway Express based on the Kyoto Encyclopedia of Genes and Genomes (KEGG) database, genes involved in thyroid cancer and axon guidance were predicted to be associated with different expression (P(corr) = 0.008 and 0.020, respectively). Although further replications using a larger sample size and functional evaluations are needed, our results suggest that altered gene expression and the genes' involved functional pathways and categories may provide insight into NEC development and aid in future research.

First reported case of fetal aortic valvuloplasty in Asia

Prenatal intervention of severe fetal aortic valve stenosis by ultrasound-guided percutaneous balloon valvuloplasty has been performed to prevent the progression to hypoplastic left heart syndrome, and achieve biventricular circulation in neonates. Here we report a case of fetal aortic valvuloplasty prenatally diagnosed with aortic stenosis at 24 weeks of gestation and showed worsening features on a follow-up echocardiography. Prenatal aortic valvuloplasty was performed at 29 weeks of gestation, and was a technical success. However, fetal bradycardia sustained, and an emergency cesarean delivery was performed. To the best of our knowledge, this is the first reported case of fetal aortic valvuloplasty which was performed in Asia.