• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.1
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• pp.18-23
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• 2016

Objective: Newborn screening leads to improved treatment and disease outcomes, but false-positive newborn screening results may impact include parental stress and anxiety, perception of child as unhealthy, parent-child relationship dysfunction, and increased infant hospitalizations. The purpose of this study was to investigate of the false positive rates and the causative factors of false positive results in Tandem Mass Spectrometry (TMS) in single center. Methods: Records were reviewed for all 18,872 subjects who were born in Cheill General Hospital, during January 1st, 2012 to December 31st, 2014. 17,292 neonates (91.62%) were tested for tandem mass screening almost in 2-5th day of life. Newborn babies whose first results were abnormal had been tested repeatedly by same methods in 7-14 day. If the results were abnormal again, further evaluation was performed. TMS analysis included data for the 43 disorders screened for using TMS broken down into three categories: fatty acid oxidation disorders, organic acidurias, and aminoacidopathies. The impact of several factors on increased false positive rates was analyzed using a multivariate analysis: time from birth to sample collection, birth weight, birth height, BMI, gender, gestational age, delivery type. Results: Males of the subjects were 8942 (51.7%), female 8350 (48.3%), the mean gestational age was $38.6{\pm}1.7$ weeks, the average birth weight $3,155.6{\pm}502.4g$, the average birth height $49.1{\pm}2.9cm$, and the average BMI $13.0{\pm}3.8(kg/m^2)$. Vaginal delivery cases were 9713 (56.2%), caesarean section 7,579 (43.8%). The average date of the inspection was $2.8{\pm}1.1$ days. 224 cases were identified as TMS positive. All the subjects were false positive (222/17,292, 1.30%) except 2 cases (1 male; benign phenylketonuria and 1 female; Short chain acyl-CoA dehydrogenase deficiency). The false positive rates were 0.61% in fatty acid oxidation disorders, 0.25% in organic acidurias, and 0.45% in aminoacidopathies. In our study, the date of inspection got late, the false positive rates got higher. Because almost the cases of late test date were in treatment in neonatal intensive care unit so their test date was affected by their medical conditions. False positive rate was higher in extreme immaturity${\leq}27$ weeks than newborns of gestational age >27 weeks [OR=6.957 (CI=1.273-38.008), p<0.025] and extremely low birth weight<1,000 g than newborns of birthweight ${\geq}1,000g$ [OR=5.616 (CI=1.134-27.820), p<0.035]. Conclusion: False positive rate of TMS was 1.30% in Cheil General Hospital. Lower gestational age and birth weight impacted on increased false positive rates. Better understanding of factors that influence the reporting of screening tests, and the ability to modify these important factors, may improve the screening process and reduce the need for retesting. of screening tests, and the ability to modify these important factors, may improve the screening process and reduce the need for retesting.

• Childhood Kidney Diseases
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• v.11 no.1
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• pp.41-50
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• 2007

Purpose : Dialysis in children with chronic renal failure presents with many difficulies. The purpose of this study is to find an improved method in chronic dialysis in infants and children less than 2 years of age by analyzing the experience with 10 cases. Methods : A retrospective review of the medical records of 10 patients(6 boys and 4 girls) was conducted. The patients had chronic renal failure and underwent chronic dialysis at Samsung medical center from March 1999 to February 2007. Results : At Initiation of dialysis, the median age was 3 months old(22 days-20 months), the median body weight was 3.75 kg(2.2-10.3 kg), and the median serum creatinine level was 4.3 mg/dL(2.0-11.4 mg/dL). The median duration of dialysis was 29.5 months(3-62 months). Dysplastic kidney disease was the most common underlying renal disease. Two patients were treated with hemodialysis, 4 patients with peritoneal dialysis, and 4 patients eventually switched dialysis modality. Nine of the 10 patients took erythropoietin and anti-hypertensive drugs. At the end of the follow up period, 1 patient received kidney transplantation, 2 patients died due to sepsis, and 5 patients were treated with peritoneal dialysis. Two patients were lost to follow up. The most common complication of dialysis was infection. Achieving vascular access and maintaining proper catheter function were the most important factors in treating patients with hemodialysis. The growth status of patients was aggravated after 6 month of dialysis but improved after 1 year of dialysis. Patients showed better growth on peritoneal dialysis than hemodialysis. Conclusion : Chronic dialysis can be performed successfully in infants and children under 2 years of age. Vascular access was the main limitation of hemodialysis, and infection was the common problem in both hemodialysis and peritoneal dialysis. To improve the patients survival rate and quality of life, major efforts should be directed toward the prevention of infection and preservation of catheter function. (J Korean Soc Pediatr Nephrol 2007;11:41-50)

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.11 no.2
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• pp.116-121
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• 2008

Purpose: Cricopharyngeal incoordination is a rare cause of swallowing difficulties in newborns and infants; it is characterized by delayed pharyngeal contractions related to cricopharyngeal relaxation. Dysphagia and repeated aspiration are common findings despite normal sucking. We conducted this study to assess the clinical features of cricopharyngeal incoordination in newborns and infants. Methods: An analysis of the clinical data from 17 patients with cricopharyngeal incoordination who were admitted to the Department of Pediatrics, Pusan National University Hospital, between 2000 and 2006 was conducted retrospectively. The diagnosis of cricopharyngeal incoordination was established by the clinical characteristics and the videofluoroscopic swallowing studies. Results: The male to female ratio was 1:1.1 (males 8, females 9) the age range 1 to 60 days. The body weight of 11 patients (64.7%) was less than the $10^{th}$ percentile at diagnosis. Six patients (35.3%) were born prematurely. The associated anomalies or diseases were chromosomal anomaly (2 cases), congenital heart disease (3 cases), and laryngomalacia, hypoxic brain damage or neonatal seizures (1 case each). The chief complaints of patients were recurrent aspiration pneumonia (10 cases), feeding difficulty (9 cases), dyspnea (4 cases), and chocking (4 cases). The severity of aspiration on the videoesophagogram or esophagogram was mild in 12 cases. The correlation between the severity of aspiration and the duration of tube feeding after the diagnosis was significant (p<0.05). Conclusion: Cricopharyngeal incoordination should be considered in the differential diagnosis of newborns and infants, without known risk factors associated with swallowing dysfunction, when they present with unexplained respiratory problems. Although the prognosis of cricopharyngeal incoordination is good, early diagnosis and tube feeding are recommended to prevent the complications associated with this disorder.

• Neonatal Medicine
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• v.18 no.1
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• pp.111-116
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• 2011

Purpose: To evaluate the impact of delayed interval delivery on neonatal outcomes. Methods: This was a retrospective study of infants who were born at Seoul National University Hospital by delayed interval delivery from June 2005 to July 2010. Outcomes (neonatal mortality and morbidity) of later babies were compared to those of the first babies and the control group whose gestational ages and birth weights were similar to them. Results: There were 4 twin and 5 triplet pregnancies. The first babies (group 1, n=9) were delivered at $22^{+6}$ to $27^{+5}$ weeks of gestational age, and the later babies (group 2, n=14) were born at $24^{+6}$ to $28^{+0}$ weeks. The mean interval between the first and later deliveries was 10 days, and there was no delay between the second and third deliveries in all triplet pregnancies. There were more small for gestational age (SGA) infants in group 1 than group 2 (66.7% and 21.4% respectively, P=0.03). Two of three babies who died in group 1 were born before 24 weeks of gestational age and expired within a week after birth. The mortality rate of group 2 (7.1%) was lower than group 1 (33.3%), but not significantly (P=0.106). The control group matched to group 2 consisted of 28 infants. There were no significant differences in neonatal mortality and morbidity between the two groups. Conclusion: Although there is a limitation to the number of infants in this study, it suggested that delayed delivery in a multiple pregnancy could decrease the incidence of SGA of the remaining fetuses and that prolonged gestation would not be harmful to those fetuses after birth.

• Journal of Preventive Medicine and Public Health
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• v.1 no.1
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• pp.9-23
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• 1968

A survey was conducted by the staff of the College of Medicine and School of Public Health, Seoul National University in cooperation with Seoul Special City from 1 December 1967 through 28 February 1968, on such events as delivery, death, abortion and pregnancy. The survey directed to a total population of 47,811 residing in 9,157 households led us to the following findings: 1. Two year averages of crude birth rate, crude death rate and natural increase rate were 30.1, 5.6 and 24.5, respectively. 2. Of all deliveries, home and hospital deliveries constituted 61.1 per cent and 35.5 per cent, respectively. 3. Deliveries other than hospital deliveries were found to be attended more often by mother-in-laws (26.5 per cent) than by doctors or midwives(23.4 per cent). 4. About 51 per cent of all women having experiences in pregnancy during the last two years had an experience of consulting a doctor at least one time throughout whole period of pregnancy. 5. In most cases scissors were used to cut umbilical cords, of which 71.0 per cent were not sterilized and only 20.3 per cent sterilized. 6. In many cases placenta was incinerated(48.2 per cent) and on many other occasions it was thrown away into water(28.3 per cent). 7. Cement bags(37.4 per cent), gauze and absorbent cotton(29.8 per cent) were found to be most frequently used to receive new-born babies. 8. In 1966 8. 8 per cent of the women had at least one abortion induced and in 1967 the percentage was 9.2 per cent. 9. Nearly all(95.8 per cent) of the induced abortions reportedly were done at doctor's clinics. 10. Of all the abortions induced 65.3 per cent were done by specialists in obstetrics, 30.3 per cent by general practitioners and 2.7 per cent by midwives. 11. Those who experienced spontaneous abortions were 1.9 per cent of all women both in 1966 and 1967. 12. About 9.2 per cent of women investigated were found to be currently pregnant. 13. Age specific death rate turned out to be highest among those under 1 year of age. 14. Ten major causes of death in their order of frequency were: 15. Places of death can be classified into homes(75.3 per cent) and hospitals(13.2 per cent). 16. Method of disposing of corpses comprised burials(54.2 per cent) and cremations(44.6 per cent). 17. Infant, neonatal and hebdomadal mortality rates have been computed at 32.2, 18.9 and 13.7, respectively. 18. Infants were found to have died either at homes(81.5 per cent) or at hospitals(18.5 per cent). 19. Birth registrations had been done for about 18.5 per cent of the dead infants.

• Pediatric Infection and Vaccine
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• v.16 no.2
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• pp.167-174
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• 2009

Purpose : Pertussis was very common in the past, but reported cases have dramatically decreased. The improvement of vaccination programs and unreadiness of laboratory confirmation seems to have developed this situation. This study investigated the frequency of pertussis among infants with a paroxysmal cough and compared the clinical characteristics between infants with and without pertussis. Methods : Between June and November 2006, 27 infants admitted to the hospital that were 15-90 days old with a history of a cough for more than seven days were enrolled. The cough was described as: paroxysmal, whooping, and post-tussive vomiting. PCR and cultures for Bordetella pertussis with nasopharyngeal aspirates were obtained. The patients were divided into two groups: (1) the pertussis group that had positive results by PCR or culture; (2) the control group that had negative results by PCR and culture. Clinical and laboratory characteristics were compared between the two groups. Results : Among the 27 cases, five (18.5%) were finally diagnosed with pertussis. Only one out of the five pertussis cases was initially diagnosed with a pertussis-like syndrome on admission. Compared to the group without pertussis, the pertussis group had a significantly higher frequency of: no fever (P =0.043), a paroxysmal cough (P =0.040), cyanosis (P =0.001), non-immunized status for DTaP (P =0.047), normal auscultation (P =0.028), normal chest X-ray findings (P =0.027), high absolute lymphocyte count (P =0.039), and low CRP (P =0.046). The patients with the diagnosis of pertussis had a significantly longer duration of coughing (27.2${\pm}$10.6 vs. 12.6${\pm}$5.6 days, P =0.039). Conclusion : Pertussis should be suspected in any infant with typical symptoms of pertussis in addition to: a persistent cough without fever, accompanied by paroxysms or cyanosis prior to the age of DTaP immunization. Active laboratory confirmation should be carried out to confirm more cases with pertussis.

• Neonatal Medicine
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• v.16 no.2
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• pp.190-196
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• 2009

Purpose: Candida infection has increased in neonatal intensive care units (NICU). However, recent reports on systemic candida infections in preterm newborns are rare in Korea. The aim of this study was to examine the epidemiological features of systemic candida infection in very low birth weight infants (VLBW) over the past five years. Methods: We retrospectively reviewed the medical records of 19 patients with systemic candida infections in VLBW that were admitted to the neonatal intensive care units of three hospitals affiliated with the College of Medicine, The Catholic University of Korea from January 2004 to December 2008. We analyzed the birth weight, gestational age, age at diagnosis, risk factors, co-morbidity, antifungal treatment, and mortality rates among the 19 patients. Results: Systemic candida infections occurred in 19 cases (4.7%) among the VLBW infants. The mean birth weight and gestational age were 959.0$\pm$255.9 g and 26.7$\pm$2.1 weeks. The isolated Candida species were C. albicans (4), C. parapsilosis (9), C. glabrata (2), C. famata (2), and unkown subspecies (2). Most patients had various associated risk factors, including a central venous catheter, broad spectrum antibiotics, parenteral nutrition, intravenous lipid emulsion, endotracheal intubation and $H_2$ blocker therapy. There was no significant difference in the risk factors between newborns that survived and those that died with regard to the systemic candida infection, except for gestational age. Nine (47.4%) out of 19 patients with a candida infection died and four cases (21.2%) were directly related to the candida infection. Conclusion: The prevalence of systemic candida infection is increasing in VLBW infants. The majority of Candida species has shifted to C. non-albicans, especially C. parapsilosis. Because of the high mortality associated with candida infection in the NICU, prophylaxis and early treatment based on epidemiological features is necessary.

• Neonatal Medicine
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• v.16 no.2
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• pp.146-153
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• 2009

Purpose: The aim of this study is to investigate the current use of dexamethasone rescue therapy (DRT) for bronchopulmonary dysplasia (BPD). Methods: This is a retrospective study of 251 BPD patients managed in the neonatal intensive care units at Seoul National University Childrens Hospital and Seoul National University Bundang Hospital between March 2004 and August 2008. The demographic data and clinical characteristics of the mothers and infants were analyzed. The infants were compared based on DRT responsiveness. The DRT complications were investigated. Results: Ninety-three patients (37.1%) were classified with severe BPD, DRT was only given to patients with severe BPD. Dexamethasone was administered to 24 patients (9.6%) whose respiratory status had precluded extubation, which indicated that conventional BPD management had failed. Fourteen patients (58.3%) who received DRT were responsive. DRT non-responders required more oxygenation and more complicated with pulmonary arterial hypertension (PAH). Responder had shorter length's of hospitalization and lower mortality rates. High dose dexamethasone was no more effective in weaning neonates from the ventilatior than low dose dexamethasone. Sepsis was the most common complication of DRT. Conclusion: DRT is a valuable treatment for severe BPD ahead of PAH development. DRT should not be performed in BPD patients with PAH due to the possibility of complications.

• Journal of Food Hygiene and Safety
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• v.27 no.1
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• pp.103-107
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• 2012

We compared between an automated most-probable-number technique $TEMPO^{(R)}$TVC and traditional plating methods $Petrifilm^{TM}$ for estimating populations of total aerobic bacteria in various livestock products. 257 samples randomly selected in local retail stores and 87 samples inoculated with $E.$ $coli$ ATCC 25922, $Staphylococcus$ $aureus$ ATCC 12868 were tested in this study. The degree of agreement was estimated according to the CCFRA (Campden and Chorleywood Food Research Association Group) Guideline 29 and the agreement indicates the difference of two kinds methods is lower than 1 log base 10($log_{10}$). The samples of hams, jerky products, ground meat products, milks, ice creams, infant formulas, and egg heat formed products were showed above 95% in the agreement of methods. In contrast, proportion of agreement on meat extract products, cheeses and sausages were 93.1%, 92.1%, 89.1%, respectively. One press ham and five sausages containing spice and seasoning, two pork cutlets containing spice and bread crumbs, two meat extract product and two natural cheeses and one processing cheese with a high fat content, and one ice cream containing chocolate of all samples showed the discrepancy. Our result suggest that $TEMPO^{(R)}$TVC system is efficient to analyses total aerobic bacteria to compare manual method in time-consuming and laborious process except livestock products having limit of detection.

• Journal of Genetic Medicine
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• v.8 no.1
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• pp.71-75
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• 2011

A male infant was diagnosed with obstetric brachial plexus injury, congenital muscular torticollis and cleft palate 17 days after birth. His mother presented with gestational diabetes and premature rupture of membranes. Although it is possible that these three disorders arose independently, it is very likely that all three have the same etiologic cause, and we propose that a possible mechanism for this concurrence is related to maternal gestational diabetes. Maternal hyperglycemia mostly affects fetal structures deriving from the neural crest, including the palatine bone, and may have caused the cleft palate observed in this case. Gestational diabetes is also associated with increased frequency of large for gestational age infants and, by extension, with increased risk of birth injuries such as obstetric brachial plexus injury or congenital muscular torticollis associated with large for gestational age infants. Since the children of mothers with gestational diabetes are at increased risk for congenital defects such as cleft palate as well as being large for gestational age, precautions indicated for each respective disorder must be taken during prenatal testing and during birth. However, further studies of more cases are required to evaluate whether the concurrence of obstetric brachial plexus injury, congenital muscular torticollis and cleft palate in this case are complications specifically associated with gestational diabetes or just a simple coincidence.