• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.22 no.5
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• pp.487-492
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• 2019

Waardenburg syndrome (WS) type IV is characterized by pigmentary abnormalities, deafness and Hirschsprung's disease. This syndrome can be triggered by dysregulation of the SOX10 gene, which belongs to the SOX (SRY-related high-mobility group-box) family of genes. We discuss the first known case of a SOX10 frameshift mutation variant defined as c.895delC causing WS type IV without Hirschsprung's disease. This female patient of unrelated Kuwaiti parents, who tested negative for cystic fibrosis and Hirschsprung's disease, was born with meconium ileus and malrotation and had multiple surgical complications likely due to chronic intestinal pseudo-obstruction. These complications included small intestinal necrosis requiring resection, development of a spontaneous fistula between the duodenum and jejunum after being left in discontinuity, and short gut syndrome. This case and previously reported cases demonstrate that SOX10 gene sequencing is a consideration in WS patients without aganglionosis but with intestinal dysfunction.

• Clinical and Experimental Pediatrics
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• v.50 no.10
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• pp.959-964
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• 2007

Purpose : The purpose was to investigate the clinical considerations of patients affected by meconium aspiration syndrome (MAS) and the effect of suctioning through endotracheal intubation immediately after delivery on the prognosis of MAS. Methods : A total of 44 inpatients diagnosed as MAS in the Neonatal Intensive Care Unit (NICU) at Cheil Hospital were selected from January 2004 to June 2006. They were divided into two groups. In the early aspiration group (12 patients), suctioning through endotracheal intubation was performed according to the neonatal resuscitation program of the American Academy of Pediatrics and the American Heart Association because infants born through meconium-stained amniotic fluid (MSAF) were not vigorous after birth. In the early non-aspiration group (32 patients), endotracheal intubation was not performed because the infants born through MSAF were vigorous after birth. These two groups were analyzed retrospectively by medical records in the fields of clinical features, obstetric risk factors, complications, treatment, and duration of hospitalization. Results : There was no significant difference in mean gestational age, mean birth weight, sex, and delivery mode between the early aspiration group and the early non-aspiration group. Mean Apgar score of the early aspiration group both in 1 and 5 minute score was significantly lower than in the early non-aspiration group. Lengths of hospitalization and duration of mechanical ventilator care were longer in the early non-aspiration group, but there was no significant difference. Total duration of oxygen therapy was significantly longer in the early non-aspiration group than in the early aspiration group. Conclusion : In this study, the early non-aspiration group used surfactant more and had a longer duration of mechanical ventilator and hospitalization, but there was no significant difference. Total duration of oxygen therapy was significantly longer in the early non-aspiration group. Therefore, more detailed guidelines for vigorous infants born through MSAF are needed and we should study and follow up the long term prognosis of neurological complications of MAS.

• Neonatal Medicine
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• v.28 no.1
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• pp.29-35
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• 2021

Purpose: Intussusception is the most common cause of bowel obstruction in children; however, it is rarely diagnosed in newborn infants. This study aimed to describe the clinical features of intussusception in newborn infants. Methods: Medical records of eight patients diagnosed with intussusception during the newborn period at Ulsan University Hospital between March 2007 and March 2020 were retrospectively reviewed. Results: Among the eight cases, two occurred in the intrauterine period and six occurred in the postnatal period. Intrauterine intussusception presented with symptoms of bowel obstruction within 1 to 2 days after birth, and ileal atresia was diagnosed simultaneously through exploratory laparotomy. All the postnatal patients were extremely low birth weight infants (median gestational age and birth weight: 25⁺⁶ weeks and 745 g, respectively). Four cases were diagnosed preoperatively using abdominal ultrasonography. One patient was diagnosed by exploratory laparotomy because the clinical symptoms were nonspecific and difficult to differentiate from those of necrotizing enterocolitis, a more prevalent complication in preterm infants. The site of intussusception in all six patients was the small bowel. Meckel's diverticulum (one case) and meconium obstruction (two cases) were found to be the lead point. Conclusion: Neonatal intussusception tends to show different clinical features according to its period of occurrence. Intussusception, especially in preterm infants, has nonspecific clinical features; therefore, clinicians should always be cautious of this disease for its early diagnosis.

• Neonatal Medicine
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• v.18 no.2
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• pp.189-196
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• 2011

Purpose: Surfactants have been used to improve oxygenation for infants with meconium aspiration syndrome (MAS). We evaluated the change of pulmonary indices after surfactant therapy for MAS through a systematic meta-analysis. Methods: Relevant randomized controlled studies (RCTs) were identified by database searches in MEDLINE, EMBASE, and CENTRAL, up to June 2011, and by additional hand searches. Data were extracted regarding pulmonary indices, such as the oxygen index and arterial alveolar oxygen gradient. Meta-analyses were separately conducted for the studies of surfactant lavage therapy and surfactant bolus therapy. The risk of bias was assessed, and clinical as well as statistical heterogeneities were also investigated. Results: Two RCTs for bolus surfactant therapy and two RCTs for surfactant lavage therapy were identified. The oxygenation index results were heterogeneous between the two studies in which bolus surfactant therapy was given, while a/A $PO_2$ showed significantly better results in the treatment group over time after use of surfactant (12 hours: WMD 0.08, 95% CI 0.04-0.12; 24 hours: WMD 0.17, 95% CI 0.06-0.28). For surfactant lavage therapy, both studies consistently suggested an interventional benefit in terms of the pulmonary indices although it did not reach statistical significance. Conclusion: Surfactant therapy appeared to improve oxygenation of infants with MAS. Since a limited number of RCTs are available in the current literature and those studies were also clinically heterogeneous in terms of illness severity and the method of surfactant use, further research is needed to gather evidence to support surfactant therapy in MAS.

• Clinical and Experimental Pediatrics
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• v.51 no.7
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• pp.713-721
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• 2008

Purpose : This study aims to describe the clinical characteristics of severe meconium aspiration syndrome (MAS) which required mechanical ventilation over 48 h and to delineate the progress of respiratory failure and radiographic findings in severe MAS. Methods : Twelve infants admitted to the Neonatal Intensive Care Unit (NICU) of the Seoul National University Bundang Hospital diagnosed with severe MAS from January 2004 to July 2007 were analyzed retrospectively. Results : The presence of persistent pulmonary hypertension of the newborn (PPHN) is the only independently significant risk factor for a longer hospital stay and longer duration of mechanical ventilation. Surfactant replacement therapy (SRT) was not randomized but only performed in infants with radiographic findings for respiratory distress syndrome (RDS). In the presence of radiographic findings for RDS, the duration of high-frequency oscillatory ventilation was significantly longer. PPHN developed in 8 infants (75%). The PPHN group had a significantly longer duration of mechanical ventilation. All infants who received SRT showed radiographic improvement within 12 h, but there was no significant change in the severity score during the same period. Infants without the PPHN complications showed significant decrease in the severity score within 12 h after SRT, whereas infants with PPHN complications did not. Conclusion : The clinical course of severe MAS differed significantly depending on the development of PPHN. SRT conferred radiographic improvement in infants who showed radiographic findings for RDS, but did not influence the clinical course of MAS significantly.

• Clinical and Experimental Pediatrics
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• v.51 no.2
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• pp.219-221
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• 2008

Intestinal obstruction is not uncommon in infants. The common causes of intestinal obstruction in the neonatal period are Hirschsprung disease, intestinal atresia, meconium ileus, and intussusception. However, small bowel obstruction caused by a congenital band is very rare. We report a 27-day-old baby who was admitted with abdominal distension and fever. The abdominal X-ray revealed massive bowel dilatation and the contrast gastrografin enema suggested a distal small bowel obstruction. The explolaparotomy showed small bowel entrapment due to an unusual anomalous congenital band.

• Advances in pediatric surgery
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• v.1 no.2
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• pp.186-189
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• 1995

Neonatal intestinal perforation is mainly caused by necrotizing enterocolitis, intestinal atresia, meconium ileus or unknown etiology. Occasionally, Hirschsprung's disease presents with neonatal intestinal perforation, of which, it is known that total colonic aganglionosis is common. Therefore, Hirschsprung's disease should be considered as a cause of neonatal intestinal perforation. The authors have experienced 3 cases of neonatal Hirschsprung's disease associated with colonic perforations. Cecal perforations were noted in 2 cases with aganglionosis from descending colon and sigmoid perforation in a case with aganglionosis in rectum. These cases will be discussed with literature review.

• Advances in pediatric surgery
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• v.3 no.2
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• pp.168-171
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• 1997

Appendiceal perforation is uncommon in the neonate. Diess reported the first case in 1908. Approximately 111 additional cases have been reported since that time. However, with exclusion of neonatal appendicitis associated with inguinal or umbilical hernias, necrotizing enterocolitis, meconium plug, and Hirschsprung's disease, there are only 36 cases of primary neonatal appendicitis. We treated a 12 days old boy with perforation of the appendix. The infant was 3000 g at birth and had a normal spontaneous vaginal delivary at 35 weeks of gestation. The mother was 31-year-old and had premature rupture of membrane. After normal feeding for the first 5 days of life, the infant had emesis of undigested milk, decreased activity and jaundice. The baby was admitted to the Pediatrics. Progressive abdominal distension, fever, decreased activity, and vomitting developed over the next six days. Erect abdominal radiography showed pneumoperitoneum. At exploratory laparotomy, a $0.8{\times}0.6$ cm sized perforation was noted at antime-senteric border of midportion of the appendix. Trasmural inflammation and the presence of ganglion cells were noticed on histology.

• Advances in pediatric surgery
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• v.8 no.1
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• pp.48-53
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• 2002

Diagnosing Hirschprungs disease (HD) is a clinical challenge to pediatric surgeons. The cardinal symptoms are failure of passage of meconium within first 24 hours of life, abdominal distension, and vomiting. The severity of these symptoms and the degree of consitpation vary considerably between patients. HD is suspected on the basis of history and clinical findings and the diagnosis is established by radiological examination, anorectal manometry, and histochemical analysis of biopsy specimens. In this review, the advantages and pitfalls of each diagnostic modality are discussed. And a diagnostic approach utilizing these diagnostic modalities in children with suspicious HD is presented.

• Clinical and Experimental Pediatrics
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• v.51 no.4
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• pp.367-371
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• 2008

Purpose : The surfactant dysfunction may play an important role in meconium aspiration syndrome (MAS). We aim to evaluate the effect of surfactant lavage in the treatment of term infants with MAS. Methods : The medical records of 15 neonates with severe MAS admitted at Yongdong Severance Hospital from 2005 to 2007 were reviewed and analyzed. Seven infants with severe MAS necessitating mechanical ventilation underwent tracheobronchial lavage with 20 mL/kg of diluted (5.3 mg phospholipid/mL) surfactant saline suspension ($Newfactan^{(R)}$). Data regarding clinical outcomes was assessed by comparison with 8 control infants with equally severe MAS retrospectively. Results : In the lavage group, radiological improvement was evident after 6 hours of treatment. The duration of artificial ventilation and duration of hospital day were also significantly shorten in the lavage group compared with the control group. The mean oxygen index, mean ventilation index improved significantly within the first 6 hours after treatment. No differences were found in the incidence of major complications and mortality between the two groups. Conclusion : The surfactant lavage seems to be an effective and safe method for treatment of severe MAS. A multicenter, large scaled randomized controlled trial is needed for further study.