• Clinical and Experimental Pediatrics
• /
• v.54 no.10
• /
• pp.425-428
• /
• 2011

Ornithine transcarbamylase (OTC) deficiency is well known as the most common inherited disorder of the urea cycle, and 1 of the most common causes of hyperammonemia in newborns. We experienced a case of a 3-day-old boy with OTC deficiency who appeared healthy in the first 2 days of life but developed lethargy and seizure soon afterwards. His serum ammonia level was measured as > $1,700{\mu}g/dL$ (range, 0 to $45{\mu}g/dL$). Continuous renal replacement therapy (CRRT) in the mode of continuous venovenous hemodiafiltration was immediately applied to correct the raised ammonia level. No seizure occurred after the elevated ammonia level was reduced. Therefore, CRRT should be included as 1 of the treatment modalities for newborns with inborn errors of metabolism, especially hyperammonemia. Here, we report 1 case of successful treatment of hyperammonemia by CRRT in a neonate with OTC deficiency.

• Journal of Korean Academy of Nursing
• /
• v.28 no.4
• /
• pp.920-930
• /
• 1998

The purpose of this study was to evaluate maternal perception of the newborn, confidence and gratification of mothering role, and contribute to maternal nursing and neonatal nursing. The questionnaire, maternal perception of the newborn(Ⅰ) was completed by 47 mothers at three hospitals in the Kyoung-In area during the first to third day after birth. The questionnaire, maternal perception of the newborn(Ⅱ), confidence and gratification of mothering role were completed at fourth to sixth week after birth. The data were analyzed by a SPSS program. The results were as follows ; 1) The means of perception of the newborn(Ⅰ) and (Ⅱ) were 2.28±4.81 and 3.83±4.84. The means of confidence and gratification of mothering role were 40.38±5.51 and 39.30±6.70. 2) Half of the mothers(48.9%) rated their newborn as better than average newborn at first to third day after birth, and 74.5% of mothers did at fourth to sixth week after birth. 3) The score of maternal perception of the newborn (Ⅰ) was significantly correlated with the score of confidence and gratification of mothering role. The score of maternal perception of the newborn(Ⅱ) was correlated with the score of confidence and gratification of mothering role. The score of confidence and gratification of mothering role was related. 4) Maternal gratification of mothering role was significantly different by maternal perception of the newborn(Ⅰ), and maternal confidence was different by maternal perception of the newborn (Ⅱ). 5) Mothers who had religions and who wanted the pregnancy had higher perception of the newborn(Ⅰ) than those who did not. Mothers whose newborns were boys had higher perception of the newborn(Ⅱ) than those whose newborns were girls. Mothers who wanted the pregnancy had higher confidence of mothering role than those who did not. Mothers who planed cow's milk had lower gratification of mothering role than those who did not. The above findings indicate that mothers who have a different level of perception of the newborn, confidence and gratification of mothering role. Therefore, it is important that maternal perception of the newborn, confidence and gratification of mothering role were precisely evaluated, and nursing intervention for improving perception of the newborn should be provided for mothers.

• Clinical and Experimental Pediatrics
• /
• v.63 no.8
• /
• pp.329-334
• /
• 2020

Background: Birth asphyxia is a leading cause of neonatal mortality. Ischemia-modified albumin (IMA) levels may have a predictive role in the identification and prevention of hypoxic disorders, as they increase in cases of ischemia of the liver, heart, brain, bowel, and kidney. Purpose: This study aimed to assess the value of IMA levels as a diagnostic marker for neonatal hypoxic-ischemic encephalopathy (HIE). Methods: Sixty newborns who fulfilled 3 or more of the clinical and biochemical criteria and developed HIE as defined by Levene staging were included in our study as the asphyxia group. Neonates with congenital malformation, systemic infection, intrauterine growth retardation, low-birth weight, cardiac or hemolytic disease, family history of neurological diseases, congenital or perinatal infections, preeclampsia, diabetes, and renal diseases were excluded from the study. Sixty healthy neonates matched for gestational age and with no maternal history of illness, established respiration at birth, and an Apgar score ≥7 at 1 and 5 minutes were included as the control group. IMA was determined by double-antibody enzyme-linked immunosorbent assay of a cord blood sample collected within 30 minutes after birth. Results: Cord blood IMA levels were higher in asphyxiated newborns than in controls (250.83±36.07 pmol/mL vs. 120.24±38.9 pmol/mL). Comparison of IMA levels by HIE stage revealed a highly significant difference among them (207.3±26.65, 259.28±11.68, 294.99±4.41 pmol/mL for mild, moderate, and severe, respectively). At a cutoff of 197.6 pmol/mL, the sensitivity was 84.5%, specificity was 86%, positive predictive value was 82.8%, negative predictive value was 88.3%, and area under the curve was 0.963 (P<0.001). Conclusion: IMA levels can be a reliable marker for the early diagnosis of neonatal HIE and can be a predictor of injury severity.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.6 no.1
• /
• pp.96-107
• /
• 2006

Citrin deficiency resulting from mutations of SLC25A13is associated with two major clinical phenotypes; neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and adult-onset type 2 citrullinemia (CTLN2). In Korea, 7 cases of citrin deficiency have been diagnosed based on biochemical and molecular findings. Four NICCD cases were identified by newborn screening using MS/MS or presenting symptoms like cholestatic jaundice. They are all males, presenting with conjugated hyperbilirubinemia, elevated liver enzymes, hypoalbuminemia, mild hyperammonemia, elevated citrullin, methionine and threonine. All of them have been spontaneously recovered from hepatic manifestation by the age of 6-8 months. Mutation analysis has been performed using their genomic & cDNAs obtained from skin fibroblasts. They turned out to be compound heterozygotes carrying each of 851del4, IVS11+1G>A, and IVS13+1G>A. Three CTLN2 patients were identified. Two adult male patients presented with a sudden loss of consciousness, seizure, vomiting, hyperammonemia and citrullinemia in their twenties. They carried an IVS13+1G>A, 851del4, and IVS11+1G>A mutant alleles. The other CTLN2 patient was 52 year old female patient, manifesting lethargy, altered consciousness, irritability and hyperammonemia. Similar clinical symptoms had recurred at the delivery of first and second babies in her past medical history. She was managed by hemodialysis and survived with neurological sequellae. Also, we screened the presence of 9 common mutations in 500 Korean newborns using dried blood spot of filter papers. Only a allele carried 854del4 mutation. In conclusion, the entire picture of citrin deficiency in Korea including incidence, genotype, clinical features and natural courses, is still vague at the present time.

• Journal of Periodontal and Implant Science
• /
• v.42 no.6
• /
• pp.212-216
• /
• 2012

Purpose: The aim of this study was to evaluate the relationship between maternal periodontal disease and the health status of newborns using Apgar scores. Methods: One hundred pregnant women with periodontal disease were included in the case series and 100 pregnant women without periodontal disease were placed in the control group, respectively. The periodontal parameters of bleeding on probing (BOP), clinical attachment loss (CAL), probing depth (PD), birth weight, and Apgar scores were recorded in both groups. T-tests and Pearson's correlation coefficient were used to determine the birth weight odds ratio to analyze the relationship between the periodontal parameters of BOP, CAL, and PD on the one hand and an Apgar score of less than 7. An unpaired Student's t-test was used to analyze differences in means between the case and control groups using SPSS ver. 13. Results: The means of the ages, periodontal pocket depths, attachment loss, areas with BOP, Apgar score in the first 5 minutes and infant birth weight exhibited statistically significant differences between the case and control groups. The ratio of an Apgar score of <7 to periodontal disease was 3.14; the ratio of low birth weight risk in mothers with periodontal disease to that in mothers without periodontal disease was 2.74. Pearson's correlation coefficient revealed a significant correlation between the infant birth weight and BOP, CAL, and PD of the mother. In addition, there was a significant correlation between the Apgar score and BOP, CAL, and PD and also between the Apgar score and infant birth weight. Conclusions: The results of this study showed a significant relationship between periodontal disease and infant birth weight; in addition, there was a significant relationship between the periodontal indexes of BOP, CAL, and PD on the one hand and the Apgar score on the other.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.28 no.2
• /
• pp.310-315
• /
• 2001

The soft tissue tumors that occur commonly in newborn infants include palatal and gingival cyst of the newborn, congenital epulis, hemangioma, teratoma, pyogenic granuloma, and irritation fibroma. Such soft tissue tumors in the alveolar ridge of newborns are usually treated by surgical excision. If untreated, they can cause airway obstruction and breathing difficulty due to aspiration. They also cause discomfort during oral feeding. If nasal feeding is tried, since vomitting is impossible, there is a risk of aspiration pneumonia. In this case, a newborn infant visited our hospital with soft tissue tumor as chief complaint, and the infant was treated by surgical excision. It appeared to be similar to pyogenic granuloma and irritation fibroma upon histologic exam. However, it was different from those diseases since multinucleated giant cells were observed and it was congenital. The pathologic process of this neoplasm is not clear. This case is reported, since it is difficult to classify it as a specific disease.

• Journal of Genetic Medicine
• /
• v.7 no.1
• /
• pp.87-90
• /
• 2010

Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea Hyperammonemia in the newborn often leads to severe fatal illness associated with hyperammonemic encephalopathy. Transient hyperammonemia in newborns (THAN) is characterized by self-limiting, transient hyperammonemia during the neonatal period. THAN may have favorable long-term outcomes if it is diagnosed early and appropriately managed. However, severe hyperammonemia can develop even in newborns with THAN, which may require emergent management. Here we report a case of THAN with severe hyperammonemia during the neonatal period that was successfully treated with continuous renal replacement therapy and nitrogen-scavenging medications. Our patient went on to develop normally and has not re-experienced a hyperammonemic episode until 9 months of age without the administration of a protein restricted diet or medications.

• Journal of Yeungnam Medical Science
• /
• v.31 no.2
• /
• pp.89-93
• /
• 2014

Background: This study was conducted to investigate the epidemiological features, clinical courses, and diagnoses of neonates who are transferred to neonatal intensive care unit of Yeungnam University Hospital due to tachypnea soon after birth. Methods: Based on medical records, we performed a retrospective study of neonatal intensive care unit admissions due to tachypnea from January 2010 to December 2013. Results: A total of 311 neonates were included in this study. The patient characteristics showed male predominance at 2.65:1. Among the 311 neonates with tachypnea, 127 (40.8%) neonates needed oxygen supply, and 54 (17.4%) neonates needed assisted mechanical ventilation. Transient tachypnea of the newborns (TTN) (158, 50.8%) showed the highest incidence, followed by pneumonia (63, 20.3%), extrapulmonary infection (37, 11.9%), respiratory distress syndrome (21, 6.8%), air leak (16, 5.1%), meconium aspiration syndrome (12, 3.9%), congenital heart disease (5, 1.6%), metabolic acidosis (3, 1%), primary pulmonary hypertension of newborns (2, 0.6%) and anemia (2, 0.6%). Conclusion: Although the neonates with tachypnea showed no other respiratory distress symptom, clinicians should be aware of the possibility of other pulmonary diseases as well as TTN and their extra-pulmonary causes. If tachypnea does not improve within a few hours, the clinician should consider further evaluation and management as soon as possible.

• Clinical and Experimental Pediatrics
• /
• v.64 no.5
• /
• pp.239-246
• /
• 2021

Background: The consequences of severe acute respiratory syndrome corona virus 2 on mother and fetus remain unknown due to a lack of robust evidence from prospective studies. Purpose: This study evaluated the effect of coronavirus disease 2019 (COVID-19) on neonatal outcomes and the scope of vertical transmission. Methods: This ambispective observational study enrolled pregnant women with COVID-19 in North India from April 1 to August 31, 2020 to evaluate neonatal outcomes and the risk of vertical transmission. Results: A total of 44 neonates born to 41 COVID-19-positive mothers were evaluated. Among them, 28 patients (68.3%) (2 sets of twins) were delivered within 7 days of testing positive for COVID-19, 23 patients (56%) (2 sets of twins) were delivered by cesarean section; 13 newborns (29.5%) had low birth weight; 7 (15.9%) were preterm; and 6 (13.6%) required neonatal intensive care unit admission, reflecting an increased incidence of cesarean delivery and low birth weight but zero neonatal mortality. Samples of cord blood, placental membrane, vaginal fluid, amniotic fluid, peritoneal fluid (in case of cesarean section), and breast milk for COVID-19 reverse transcription-polymerase chain reaction tested negative in 22 prospective delivery cases. Nasopharyngeal swabs of 2 newborns tested positive for COVID-19: one at 24 hours and the other on day 4 of life. In the former case, biological samples were not collected as the mother was asymptomatic and her COVID-19 report was available postdelivery; hence, the source of infection remained inconclusive. In the latter case, all samples tested negative, ruling out the possibility of vertical transmission. All neonates remained asymptomatic on follow-up. Conclusion: COVID-19 does not have direct adverse effects on the fetus per se. The possibility of vertical transmission is almost negligible, although results from larger trials are required to confirm our findings.

• Journal of Chest Surgery
• /
• v.54 no.5
• /
• pp.348-355
• /
• 2021

Background: Congenital diaphragmatic hernia (CDH) is a rare disease often requiring mechanical ventilation after birth. In severe cases, extracorporeal membrane oxygenation (ECMO) may be needed. This study analyzed the outcomes of patients with CDH treated with ECMO and investigated factors related to in-hospital mortality. Methods: Among 254 newborns diagnosed with CDH between 2008 and 2020, 51 patients needed ECMO support. At Asan Medical Center, a multidisciplinary team approach has been applied for managing newborns with CDH since 2018. Outcomes were compared between hospital survivors and nonsurvivors. Results: ECMO was established at a median of 17 hours after birth. The mean birth weight was 3.1±0.5 kg. Twenty-three patients (23/51, 45.1%) were weaned from ECMO, and 16 patients (16/51, 31.4%) survived to discharge. The ECMO mode was veno-venous in 24 patients (47.1%) and veno-arterial in 27 patients (52.9%). Most cannulations (50/51, 98%) were accomplished through a transverse cervical incision. No significant between-group differences in baseline characteristics and prenatal indices were observed. The oxygenation index (1 hour before: 90.0 vs. 51.0, p=0.005) and blood lactate level (peak: 7.9 vs. 5.2 mmol/L, p=0.023) before ECMO were higher in nonsurvivors. Major bleeding during ECMO more frequently occurred in nonsurvivors (57.1% vs. 12.5%, p=0.007). In the multivariate analysis, the oxygenation index measured at 1 hour before ECMO initiation was identified as a significant risk factor for in-hospital mortality (odds ratio, 1.02; 95% confidence interval, 1.01-1.04; p=0.05). Conclusion: The survival of neonates after ECMO for CDH is suboptimal. Timely application of ECMO is crucial for better survival outcomes.