• Journal of Interdisciplinary Genomics
• /
• v.3 no.2
• /
• pp.30-34
• /
• 2021

Campomelic dysplasia (CD) is a rare genetic disorder characterized by multiple skeletal anomalies and the abnormal development of male reproductive organs. To date, the SOX9 gene is the only known causal gene for CD, and approximately 90 causative mutations in SOX9 have been identified worldwide. CD is diagnosed based on clinical characteristics of skeletal dysplasia (e.g., short bowed long bones, kyphoscoliosis, bell-shaped thoracic cage with 11 pairs of ribs, and hypoplastic scapulars), typical facial features of Pierre Robin sequence with cleft palate, and gonadal dysgenesis in 46,XY individuals. Most patients with CD exhibit life-threatening respiratory failure owing to laryngotracheomalacia and hypoplastic thorax during the neonatal period. Although fatal complications decrease after infancy, several medical conditions continue to require proper management. A better understanding of this rare but lethal condition may lead to more appropriate treatments for patients.

• Korean Journal of Radiology
• /
• v.22 no.9
• /
• pp.1441-1450
• /
• 2021

Anomalous origin of the coronary artery from the pulmonary artery is a rare and potentially fatal congenital heart defect. Up to 90% of infants with an anomaly involving the left coronary artery die within the first year of life if left untreated. Patients who survive beyond infancy are at risk of sudden cardiac death. Cardiac CT and MRI are increasingly being used for the accurate diagnosis of this anomaly for prompt surgical restoration of the dual coronary artery system. Moreover, life-long imaging surveillance after surgery is necessary for these patients. In this pictorial review, multimodal cardiac imaging findings of this rare and potentially fatal coronary artery anomaly are comprehensively discussed, and representative images are provided to facilitate the understanding of this anomaly.

• Journal of Chest Surgery
• /
• v.37 no.2
• /
• pp.139-145
• /
• 2004

This study describes our surgical results of transventricular complete repair of tetralogy of Fallot in infants. Material and Method: Eight hundred and forty children underwent complete repair of TOF between January 1990 and April 2002 in our institute. One hundred sixty infants of them were included to this survey. Mean age at repair was 8.1$\pm$2.6 months (3∼12). Correction was accomplished through a short right ventriculotomy less than 30% of ventricular height in all patients. A transannular patch was necessary in 78 patients (49%). Result: There were four early deaths. There were no late deaths. Follow-up with mean duration of 66 months was completed in all survivors, All patients are currently in New York Heart Association functional class I or II. Twenty patients required late reoperations. Actuarial freedom from reoperation at 1 and 10 years were 94% and 87% respectively. Two-dimensional and Doppler echocardiographic follow-up studies showed good right ventricular function in all patients except three. Conclusion: Our results suggested that early complete repair of TOF yield the acceptable results with low mortality and morbidity. Transventricular repair of intracardiac pathology can be safely applied to these patient population, yielding good postoperative right ventricular function.

• Journal of Chest Surgery
• /
• v.48 no.5
• /
• pp.307-310
• /
• 2015

Background: To evaluate our experience of early surgical plication for diaphragmatic eventration (DE) in infancy and childhood. Methods: This study evaluated infants and children with symptomatic DE who underwent plication through an open transthoracic approach in our childhood development department between January 2005 and December 2012. Surgical plication was performed in several rows using polypropylene U-stitches with Teflon pledgets. Results: The study included 12 infants and children (7 boys and 5 girls) with symptomatic DE (9 congenital and 3 acquired). Reported symptoms included respiratory distress (91.7%), wheezing (75%), cough (66.7%), and recurrent pneumonia (50%). Preoperative mechanical ventilatory support was required in 41.7% of the patients. The mean length of hospital stay was $6.3{\pm}2.5days$. The mean follow-up period was $24.3{\pm}14.5months$. Preoperative symptoms were immediately relieved after surgery in 83.3% of patients and persisted in 16.7% of patients one year after surgery. All patients survived to the end of the two-year follow-up and none had recurrence of DE. Conclusion: Early diagnosis and surgical plication of the diaphragm for symptomatic congenital or acquired diaphragmatic eventration offers a good clinical outcome with no recurrence.

• The Journal of Pediatrics of Korean Medicine
• /
• v.24 no.3
• /
• pp.1-15
• /
• 2010

Objectives: By analyzing data of pediatric patients who had visited the emergency room of an oriental medical hospital, we can understand their characteristics and diseases. The purpose of this study was to introduce the excellence of Oriental medicine, to develop various treatments and to revitalize pediatric emergency care at oriental medical hospital. Methods: The study was composed of 371 pediatric patients who had visited the emergency room of the $\bigcirc\bigcirc$ university oriental hospital from January 2008 to December 2009. Results: 1. Average age of the pediatric patients was 4.28 years old, and it has showed that 1 to 3 years old patients (36.7%) were the most common age. 2. The number of pediatric patients was increased in June. According to the weekly distribution data, the number of pediatric patients who had visited on Sunday was the most (29.1%). Also, the number of pediatric patients who had visited ER for 18 to 21 hours(35.6%) were the most common. 3. The major problems of hospitalization were digestive symptoms and nervous symptoms. The nervous symptoms were the most at infancy. The musculoskeletal symptoms were the most common in adolescence. The digestive symptoms were common in other stages of development. 4. The time interval between arrival and onset; within 6 hours were the most(48.0%). Acupuncture and herbal medication treatment(75.2%) were the most common medical treatments. Most of the pediatric patients(97.3%) were discharged after medical treatments. Conclusions: Pediatric patients who had visited emergency room at the oriental medical hospital were mostly not due to acute form of serious diseases. The most common disease states that have preferred to treat with oriental medicine were dyspepsia, crying, febrile fit, and ankle sprain. We have to introduce the excellence of oriental medicine, and we need to try to develop other treatments such as magnetic acupuncture, moxa therapy, aroma therapy and revitalize pediatric emergency care at oriental medical hospital.

• Journal of Chest Surgery
• /
• v.38 no.5 s.250
• /
• pp.335-348
• /
• 2005

Background: This retrospective review examines the preoperative condition, postoperative course, mortality and cause of death for the patients who underwent modified Blalock-Taussig shunt for complex congenital heart defects in early infancy. Material and Method: Fifty eight patients underwent modified Blalock-Taussig shunts from January 2000 to November 2003. The mean age at operation was $23.1\pm16.2$ days ($5\~81\;days$), and the mean body weight was $3.4\pm0.7\;kg\;(2.1\~4.3\;kg)$. Indications for surgery were pulmonary atresia with ventricular septal defect in 12 cases, pulmonary atresia with intact ventricular septum in 17, single ventricle (SV) in 18, and hypoplastic left heart syndrome (HLHS) in 11. Total anomalous pulmonary venous return (TAPVR) was associated with SV in 4 cases. Result: There were 11 ($19.0\%$) early, and 5 ($10.6\%$) late deaths. Causes of early death included low cardiac output in 9, arrhythmia in 1, and multiorgan failure in 1. Late deaths resulted from pneumonia in 2, hypoxia in 1, and sepsis in 1. Risk factors influencing mortality were preoperative pulmonary hypertension, metabolic acidosis, use of cardiopulmonary bypass, HLHS and TAPVR. Twenty four patients ($41.4\%$) had hemodynamic instability during the 48 postoperative-hours. Six patients underwent shunt revision for occlusion, and 1 shunt division for pulmonary overflow. Conclusion: Modified Blalock-Taussig shunt for complex congenital heart defects in early infancy had satisfactory results except in high risk groups. Many patients had early postoperative hemodynamic instability, which means that continuous close observation and management are mandatory in this period. Aggressive management may appear warranted based on understanding of hemodynamic changes for high risk groups.

• Pediatric Gastroenterology, Hepatology & Nutrition
• /
• v.19 no.1
• /
• pp.44-53
• /
• 2016

Purpose: Parenteral nutrition (PN) not only provides nutritional support but also plays a crucial role in the treatment of children with intestinal failure. The aim of this study was to evaluate the clinical significance and clinical outcomes of long-term PN. Methods: Retrospective cohort study was conducted using the medical records of patients treated at Seoul National University Children's Hospital. This study included 19 patients who received PN for over six months. Most patients received home PN. Results: The indications for PN included short bowel syndrome, chronic intestinal pseudo-obstruction, and intractable diarrhea of infancy. The median age of PN initiation was 1.3 years, and the median treatment duration was 2.9 years. Two patients were weaned from PN; 14 continued to receive PN with enteral feedings; and 3 patients died. The overall survival rates at 2 and 5 years were 93.3% and 84.0%, respectively. The incidence of catheter-related bloodstream infections was 2.7/1,000 catheter-days and was associated with younger age at PN initiation and lower initial height Z-score. Six patients developed catheter-related central vein thrombosis, with an incidence of 0.25/1,000 catheter-days. Eleven patients experienced PN-associated liver disease (PNALD), and one patient underwent multi-visceral transplant. The patients with PNALD exhibited lower final heights and body weight Z-scores. All patients experienced micronutrient deficiencies transiently while receiving PN. Conclusion: PN is an important and safe treatment for pediatric intestinal failure. PNALD was linked to final anthropometric poor outcomes. Micronutrient deficiencies were common. Anthropometric measurements and micronutrient levels must be monitored for successful PN completion.

• Clinical and Experimental Pediatrics
• /
• v.54 no.2
• /
• pp.55-63
• /
• 2011

Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder that is caused by the lack of expression of paternally inherited imprinted genes on chromosome 15q11-q13. This syndrome has a characteristic phenotype including severe neonatal hypotonia, early-onset hyperphagia, development of morbid obesity, short stature, hypogonadism, learning disabilities, behavioral problems, and psychiatric problems. PWS is an example of a genetic condition caused by genomic imprinting. It can occur via 3 main mechanisms that lead to the absence of expression of paternally inherited genes in the 15q11.2-q13 region: paternal microdeletion, maternal uniparental disomy, and an imprinting defect. Over 99% of PWS cases can be diagnosed using DNA methylation analysis. Early diagnosis of PWS is important for effective long-term management. Growth hormone (GH) treatment improves the growth, physical phenotype, and body composition of patients with PWS. In recent years, GH treatment in infants has been shown to have beneficial effects on the growth and neurological development of patients diagnosed during infancy. There is a clear need for an integrated multidisciplinary approach to facilitate early diagnosis and optimize management to improve quality of life, prevent complications, and prolong life expectancy in patients with PWS.

• The Journal of Korea Assosiation for Disability and Oral Health
• /
• v.3 no.1
• /
• pp.26-30
• /
• 2007

Leukocyte adhesion deficiency(LAD) is a rare autorecessive defect of phagocytic function resulting from a lack of leukocyte cell surface expression of ${\beta}_2$ integrin molecules(CD 18) that are essential for leukocyte adhesion to endothelial cells and chemotaxis. As a results, patients with LAD suffer from severe bacterial infections and impaired wound healing. A small number of patients with leukocyte adhesion deficiency-1 have a milder defect, with residual expression of CD18. These patients tend to survive beyond infancy; they manifest progressive severe periodontitis, alveolar bone loss, periodontal pocket formation, and partial or total premature loss of the primary and permanent dentitions. In this report, we report on a 7 year old girl with severe oral involvement. The most import focus should be to control infections to reduce the risk for future infection.

• Advances in pediatric surgery
• /
• v.4 no.1
• /
• pp.27-33
• /
• 1998

Of 72 patients with vitelline duct and vessel remnants, 45 (62.5 %) had symptomatic lesions. The mean age of the patients was 27.9 months. Males predominated (4.6 : 1). There were 22 cases of Meckel's diverticulum, 6 of Meckel's diverticulum attatched to the umbilicus with a fibrous band, 6 cases of patent vitelline duct, 5 cases of vitelline artery remnants as a fibrous band and 2 cases each of umbilical sinus and polyp, and vitelline cyst. Twenty-three patients (51 %) presented with intestinal obstruction, 6(13 %) with rectal bleeding, 4(9 %) with perforated Meckel's diverticulum, 5 with intestinal juice drainage through umbilicus, 5 with umbilical lesions, 1 with abdominal mass, and 1 with sepsis. Intestinal obstruction due to fibrous band developed during infancy(average age; 4.6 months). Seventeen asymptomatic Meckel's diverticulum, 8 obliterated vitelline artery remnants and 1 vitelline vein remnant as fibrous band, and 1 vitelline cyst were found incidentally at laparotomy. About 82 % of the complicated Meckel's diverticulum presented in infants and children less than 4 years of age.