• Clinical and Experimental Pediatrics
• /
• 제56권8호
• /
• pp.351-354
• /
• 2013

Isovaleric aciduria (IVA) is caused by an autosomal recessive deficiency of isovaleryl-CoA dehydrogenase (IVD). IVA presents either in the neonatal period as an acute episode of fulminant metabolic acidosis, which may lead to coma or death, or later as a "chronic intermittent form" that is associated with developmental delays, with or without recurrent acidotic episodes during periods of stress, such as infections. Here, we report the case of a 2-year old boy with IVA who presented with the chronic intermittent form. He was admitted to Asan Medical Center Children's Hospital with recurrent vomiting. Metabolic acidosis, hyperammonemia, elevated serum lactate and isovalerylcarnitine levels, and markedly increased urine isovalerylglycine concentration were noted. Sequence analysis of the IVD gene in the patient revealed the novel compound mutations-a missense mutation, c.986T>C (p.Met329Thr) and a frameshift mutation, c.1083del (p.Ile361fs$^*11$). Following stabilization during the acute phase, the patient has remained in a stable condition on a low-leucine diet.

• Clinical and Experimental Pediatrics
• /
• 제45권4호
• /
• pp.540-544
• /
• 2002

저자들은 임상적으로 Rett 증후군이 의심된 2세 환아에서 MECP2 유전자의 직접 염기 서열 분석을 통해 P152R 돌연변이를 확인하였다. 이에 대한 문헌 고찰과 함께 보고하는 바이다.

• Clinical and Experimental Pediatrics
• /
• 제45권4호
• /
• pp.524-528
• /
• 2002

Citrullinemia는 유전성 대사 질환 중 하나로서 argininosuccinic acid synthetase 결손에 의해 발생하는 질병이다. 구토, 기면 또는 보챔, 경련, 의식장애와 같은 증상이 고암모니아혈증에 의해 초래되고 고암모니아혈증을 신속히 치료해야만 비가역적인 뇌손상을 줄일 수 있다. 저자들은 소변 유기산 분석과 혈중 및 요중 아미노산 분석에 의해 citrullinemia 1례를 경험했기에 이에 문헌 고찰과 함께 보고하는 바이다.

• Clinical and Experimental Pediatrics
• /
• 제45권3호
• /
• pp.325-330
• /
• 2002

목 적 : 신생아 집중치료실에서 치료 중인 미숙아에서 적혈구 수혈 후의 백혈구수의 변화를 조사해 보고자 하였다. 그리고 그 정도가 신생아 감염을 의미할 만한 정도인지 알아보고자 하였다. 방 법 : 2년 1개월간 본원 신생아 집중 치료실에서 농축 적혈구를 수혈 받은 환아 33명(총 수혈횟수 48회)을 대상으로 수혈 전후의 백혈구수, 호중구수, 대호중구수를 후향적으로 비교, 분석하였다. 결 과 : 적혈구 수혈 후 최초 8시간(제 1기)에 백혈구와 호중구가 각각 평균값이 $1.33{\times}10^3/mm^3$(P=0.03), $0.55{\times}10^3/mm^3$(P=0.05 )증가하였으나, 수혈 후 17-24시간(제 3기)에는 수혈 전과 큰 차이가 없었다. 대호중구수는 모든 대상 환아에서 수혈 전후에 큰 변화가 없었다. 결 론 : 적혈구 수혈 후 일시적으로 호중구 상승에 의한 백혈구 상승이 나타나지만, 24시간경에는 수혈전 수치에 가까워지고, 초기의 그 상승 정도가 크지 않아 신생아 감염으로 혼동되지는 않을 것 같다.

• Perspectives in Nursing Science
• /
• 제17권2호
• /
• pp.90-98
• /
• 2020

Purpose: This study examined the effects of breastfeeding education among preterm mothers. Methods: A nonequivalent control group, repeated measure, quasi-experimental study design was used. The participants comprised 46 preterm mothers recruited from the neonatal intensive care unit of a university hospital who were divided into two groups: 23 in the control group and 22 in the experimental group. The breastfeeding education program intervention to promote preterm mothers' self-efficacy used was devised based on the self-efficacy theory. The intervention program consisted of individual breastfeeding education with demonstrations and discharge education, and telephone follow-up education within one week after being discharged. The participants were surveyed before and after the intervention, and four weeks after being discharged from the newborn intensive care unit. Results: The intervention group showed a significant increase in breastfeeding self-efficacy compared with the control group (F=6.92, p=.003) and showed a significant increase in their breastfeeding attitude score (F=3.49, p=.039). Four weeks after discharge, the breastmilk volume of the intervention group increased significantly (t=-2.87, p=.006), and the same group continued to breastfeed more compared with the control group (χ²=4.50, p=.049). Conclusion: This study suggests that the preterm breastfeeding program had a positive effect on breastfeeding self-efficacy, breastfeeding attitude, and extending the breastfeeding period among preterm mothers.

• 대한간호학회지
• /
• 제30권1호
• /
• pp.171-182
• /
• 2000

This study was performed to investigate the effect of kangaroo care on body weight, physiological responses and behavioral states in premature infants. The subjects were 32 premature infants, fifteen for the kangaroo care group and seventeen for the control group, who hospitalized in a neonatal intensive care unit at a university-affiliated hospital. The kangaroo care was applied 8 times during the twenty five days with 40 minutes for each session. The kangaroo care provides the skin-to-skin contact during which a premature infant wearing a diaper and a hat is placed on its mother's chest. As for the measures, body weight was measured everyday. The levels of epinephrine, norepinephrine and 17-OHCS were measured twice, before beginning the first intervention and after finishing the last intervention. While each session of the care is undergoing, such physiological responses were measured periodically as heart rate, respiration rate, oxygen saturation, core temperature and skin temperature. The results were as follows : 1. The weight gain was significantly greater in the kangaroo care group than that in the control group during the period of performing the kangaroo care. 2. No significant difference was revealed between the two groups in heart rate, respiration rate, oxygen saturation and core temperature. The kangaroo care group also showed significant increases in the skin temperature. 3. The differences in the levels of epinephrine, norepinephrine and 17-OHCS were not significant between the kangaroo care and the control groups. The level of norepinephrine in the two groups was significantly increased over time. 4. Sleep pattern changed significantly in the kangaroo group from a very restless sleep to a very quiet sleep. These results suggest that kangaroo care is an effective nursing intervention for premature infants in gaining weight, achieving stable physiological responses and facilitating a quiet sleep.

• Advances in pediatric surgery
• /
• 제7권2호
• /
• pp.112-117
• /
• 2001

With the advances in neonatal intensive care, pediatric surgeons experience very low birth weight infants, weighing <1,500 g, more frequently. We report our 14 cases of very low birth weight infants with intestinal perforations without congenital causes, at the Asan Medical Center during the 11-year period from 1989 to 2000. The average birth weight was 919 g(563-1,490), and average gestational age was 206 days(161-286). There were nine males and five females, Operation was performed at an average age of 14.0 days(3-38). Ten neonates with symptomatic PDA were given indomethacin in an attempt to close the ductus. Bowel perforation involved the jejunum in two and ileum in twelve. At laparotomy, there were seven focal intestinal perforations, five typical NEC, one intussusception, and an unknown cause, Four neonates underwent resection and anastomosis of the bowel, and nine underwent exteriorization. One underwent resection and anastomosis after peritoneal drainage. Four patients had postoperative complications; two leakage of anastomosis, one stoma necrosis, and one internal herniation. Seven of fourteen patients survived(50.0 %). Seven patients died of septic complication. There was a significant difference in the birth weight and gestational age in survivors compared with those who died(p<0.05). There was an increased risk of bowel perforation in indomethacin treatment for PDA. Careful clinical observation and keen judgment are essential for this particular group of infants.

• Advances in pediatric surgery
• /
• 제4권1호
• /
• pp.16-26
• /
• 1998

Parenteral nutrition has been an essential part of postoperative care of neonates requiring major surgery who are unable to tolerate enteral feeding for long periods during the postoperative period. However, TPN via central venous catheters(central TPN), used in increasing trend, still presents significant morbidity. To find out whether TPN via peripheral veins(peripheral TPN) could be used as a viable alternative for postoperative parenteral nutrition in neonates, a clinical study was carried out by a retrospective analysis of 53 neonates subjected to peripheral TPN for more than 7 days after surgery. Operations consisted of procedures for esophageal atresia with tracheoesophageal fistula, gastroschisis and omphalocele. Surgery was performed at the Division of Pediatric Surgery, Department of Surgery, Hanyang University Hospitall, from 1983 to 1994. The mean total duration of TPN was 13.3 days (range; 7-58 days), the average daily total fluid intake was 117.6 ml/kg during TPN and 158.6 ml/kg during subsequent oral feeding. The average daily total calorie intake was 57.7 kcal/kg during full strength TPN and 101.3 kcal/kg during subsequent oral feeding. The mean urine output was maintained at 3.5 ml/kg/ hour during TPN and at 3.6 ml/kg/hour during subsequent oral feeding. The increment of body weight observed during TPN was 132 g in TEF, 53 g in gastroschisis and 3 g in omphalocele patients, while loss of body weight was not observed. The mortality rate was 5.7 %(3/53) and was related to the underlying congenital anomalies, not the TPN. The most common complication of peripheral TPN observed was laboratory findings suggestive of liver dysfunction in 23 cases(43.4 %) with no significant clinical symptom or signs in any case, transient pulmonary edema in one case, and generalized edema in one case. None of the major complications usually expected associated with central TPN were observed. The result of this study suggest that peripheral TPN can be used for adeguate postoperative nutritional support in neonates requiring 2 to 3 weeks of TPN.

• Advances in pediatric surgery
• /
• 제12권1호
• /
• pp.1-10
• /
• 2006

Recent advances in neonatal management have resulted in a dramatic increase in survival of very low birth weight infants. These critically ill infants, however, continue to pose significant challenges in management and ethics. There is little information on the outcome of the micropremie (birth weight less than 800 g) that require surgery. The records of 171 micropremies treated over a 15 year period (beginning in 1989) at Asan Medical Center was reviewed retrospectively. Forty-one (24.0 %) infants required surgical interventions by pediatric surgeons. There were 90 boys and 81 girls. The smallest infant, weighed 396g at birth, had esophageal atresia and died before surgery. The smallest survivor, birth weight 645 g, received anenterostomy for necrotizing enterocolitis at the weight of 590 g. The gestational age of the group rangedfrom 21 to 36 weeks. The most common surgical problem was inguinal hernia. There were 20 inguinal hernias, and repairs were performed on17 infants. Excluding 2 cases, hernia repair was performed at the time of discharge. There was only one recurrence of adirect inguinal hernia. Necrotizing enterocolitis developed in 17 patients, 11 were operated upon, two had peritoneal drainages, and 9 had enterostomies. Five of 11 surgical infants died after operation and three of the nonsurgical infants died of various complications. Although micropremies have potentially high risks of serious complications and death, the outcome can improve with careful surgical observation and judgment.

• 대한유전성대사질환학회지
• /
• 제15권2호
• /
• pp.55-58
• /
• 2015

Tetrahydrobiopterin ($BH_4$) can normalize blood phenylalanine (Phe) levels in $BH_4$ deficiency, but typically not in phenylketonuria (PKU). In 1999, Kure et al. reported that some PKU patients showed decreased blood Phe levels after $BH_4$ loading, and thereafter, those PKU patients were identified by neonatal PKU screening. A natural cofactor for phenylalanine hydroxylase (PAH) is a 6R-isomer of $BH_4$, which is first synthesized in Japan as Sapropterin dihydrochloride (Biopten$^{(R)}$) in 1982. In Japan, Biopten$^{(R)}$ is first approved for the treatment of $BH_4$ deficiency in 1992, and then for $BH_4$-responsive PAH deficiency (BPKU) in 2008. The discovery of BPKU has vast clinical implications. After Biopten$^{(R)}$ (Kuvan$^{(R)}$) is available for the treatment of BPKU, the QOL of both patients and their families were improved very much, since the serum phenylalanine levels were controlled within 4 mg/dL by $BH_4$ mono-therapy with a normal diet or $BH_4$ combined use of mild phenylalanine-restricted diet. Biopten$^{(R)}$ therapy in patients with BPKU is highly efficacious (70%) at maintaining serum Phe levels within recommended control range and provides excellent safety at least average use period of 10 years (range, 1-17 years) with no unwarranted side effects in Japan. In addition it has been confirmed that sapropterin therapy initiated before 4 years of age was very effective to maintain plasma Phe levels within the favorable range and was safe in Japanese patients with BPKU.