• Perinatology
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• 제29권4호
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• pp.189-194
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• 2018

Congenital neuroblastoma is a rare disease. Placental metastasis is extremely rare and poor prognosis has been reported in neonates. Mirror syndrome could occur in mother with placental metastasis with possibilities of hypertension and edema. We report a case of detection of left suprarenal mass in fetus at $31^{+5}weeks^{\prime}$ gestation. Mother presented with palpitation, edema, headache, and hypertension. Maternal 24 hours urine vanillylmandelic acid (VMA) and normetanephrine (NME) level at 34 weeks' gestation were elevated. Consequently, emergent cesarean section was done. Based on abdominal ultrasonography and whole body magnetic resonance imaging, left adrenal tumor with liver metastasis was suspected. Neuroblastoma was confirmed by liver and placenta biopsy. Chemotherapy was started with Pediatric Oncology Group 9243 at day 7 and changed into Children's Oncology Group 3961 due to cholestasis and poor response during 2nd cycle. Plasma exchange was done for aggravated direct hyperbilirubinemia. The baby expired at 73 days due to multi-organ failure. Maternal symptoms were completely resolved in 2 weeks after delivery along with normalization of the elevated level of VMA and NME. We report a first case of mirror syndrome in Korean mother and fetus resulting from metastatic congenital neuroblastoma to placenta.

• 한국실내디자인학회논문집
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• 제25권4호
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• pp.113-124
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• 2016

This research examines domestic and oversea's barrier-free design guidelines provided exclusively for children and their implementations in the common spaces of the outpatient clinics in two pediatric rehabilitation hospitals in Seoul. Based on literature review, a checklist was developed to compare various barrier-free design guidelines in consideration of children's accessibility in space. In addition, four spatial areas in the outpatient clinics of the two hospitals were investigated based on the checklist. As a result, the domestic and Japanese guidelines were aiming primarily to all user groups regardless of ages. Whereas in other oversea's guidelines, a number of barrier-free design standards exclusive for children were found in the facility items such as handrail, sink, urine, toilet, water fountain, chair, table, shelve, and so on, throughout the indoor waiting and sanitary spaces. Concerning implementations, most of the items in the indoor passage, waiting, and sanitary spaces of the two hospitals were not sufficiently facilitated enough to meet with the barrier-free design standards exclusive for children. As such, it is recommended to review and improve the current domestic barrier-free design guideline to accommodate various physical and spatial needs of children in all age groups and regardless of disability types, in the design of a pediatric rehabilitation hospital in the future.

• 한국식품영양학회지
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• 제15권1호
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• pp.7-11
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• 2002

학령전 아동의 zinc absorption, excretion, balance에 대하여 연구한 결과는 다음과 같다. Zinc absorption은 남자아동의 경우 29.7%, 여자아동의 경우 23.3%, 평균 25.8%로 나타났다. 대상자기 zinc absorption은 zinc intake와는 상관성이 나타나지 않았으며, zinc balance와 유의적 상관(p<0.01)을 보였다. Zinc balance는 남자아동의 경우 평균 3.25mg/day , 여자아동의 경우 1.78mg/day , 평균 2.34mg/day 로 1명의 대상자를 제외하고 모두 positive balance를 보였다. Fecal zinc loss는 평균 6.31mg/day, urinary ziilc loss는 평균 0.16mg/day 였다. zinc intake는 focal zinc loss및 zinc balance에 유의적 영향을 미치는 것으로 나타났으며(p<0.01), urinary zinc는 intake의 영향을 받지 않았다. 우리나라 학령전 아동의 zinc absorption 및 balance 는 양호한 것으로 나타났다. 그러나 이 방면의 연구 자료가 많지 않아, 성장기 아동을 대상으로 한 zinc nutrition에 대한 구체적이고 지속적인 연구가 필요하다.

• Journal of Nutrition and Health
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• 제31권8호
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• pp.1283-1294
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• 1998

This study was conducted to investigate nutritional status by anthropometric meas-urement and to assess the validity of indicators for nutritional status of preschool children. Health examinations, including blood and urine tests, were done for 799 childern aged 2 to 6 years. The mean anthropometric measurements of height, weight , head circumference, and chest circumference were 90.2cm, 13.9kg, 47.7cm, 50.9cm for 2 years (n=13), 94.8cm, 15.2kg, 43.3cm, 47.0cm for 3 years(n=125), 100.7cm, 16.4kg, 46.2cm, 50.5cm for 4 years(n=272), 106.5cm, 18.1kg, 48.8cm, 53.8cm for 5 years(n=253), 113.0cm 20.4kg, 50.4cm 56.9cm for 6 years(n=136), respectively. All anthropometric measureemnts were significantly different by age and sex. The results of physical examinations excluding dental examination were normal for all studied children. Urine test results were also normal for the subjects. The most common blood type was A and the rarest one was type AB. The mean hemoglobin concentration was 11.84g/dl for boys(n=398), 11.86g/dl for girls, and 11.85kg/dl for all. The percentage of childeren whose hemoglobin concentration was less than 11.0g/dl was 21.6% for boys and 18.9% for girls. The percentage of children whose height for age, weight for age, and weight for height were in the rang of median $\pm$1 standard devication(S.D) was 71.7% , 65.6%, and 67.0% for each indicator. Obese childeren whose weight for height or weigth for age was more than median +2S.D. were 5.2% while tall children whose height for age was more than median +2S.D, were 1.8% . Past and recent nutritional status of most children(87.2%) were assessed as normal by the combination of three indicators(height for age, weight for age, weight for height). The percentate of coincidence between for height) and one assessed by anthropometric measurements (height for age, weight for age, weight for height) and one assessed by physicial was 59.6%, 69.3% and 67.8% for each indicator, respectively. The distribution of subjects by height for age was significantly different between normal and anemic groups. With these results , the nutritional status of children the studied was normal. The anthropometric measurements reflected the nutritional status of childeren relatively well. In conclusion, in comparison with biochemical meausurements anthropometric measurements are relatively simple and effective indicators for nutritional assessement of children in large health and nutrition suveys in Korea.

• 한국식품영양과학회지
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• 제28권3호
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• pp.722-731
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• 1999

The purpose of this study is to analyze the factors associated with health and diet by nutritional status. The subjects were the children aged 2 to 6. Physicians and nurses measured children's anthropometries and examined their blood and urine. Interviewers questioned children's food habits to their mothers. 24 hour recall was done for children with their mother. The nutritional status was classified to 'underweight', 'normal weight' and 'overweight' by weight for height(median±1 S.D.) of the reference population. The number of subjects in each group(under, normal, over) was 25, 130 and 49. Factors including anthropometry and hemoglobin concentration were not significantly dif ferent by the nutritional status. The birth weight of children was correlated positively to mothers' BMI. Z scores of weight for height were related to the birth weight positively by the analysis of variance. The children of the underweight group used nutritional supplements more frequently than those of normal and overweight group. The nutrient intakes of normal weight group were higher than those of low and overweight group. Particularly, the intakes of energy, carbohydrate and calcium were significantly high among the groups. In terms of number of foods, food groups and dishes consumed per day, the children of the normal weight group ate more diversely than other groups but the differences were not significant. In conclusion, the children of normal weight group had similar characteristics with other groups but had more desirable dietary intakes than other groups in this study. Because the diet of children may be different by the nutritional status, nutrition education for children should be conducted according to the characteristics of each group's diet.

• Childhood Kidney Diseases
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• 제22권2호
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• pp.52-57
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• 2018

Purpose: Rhabdomyolysis is a metabolic disorder in which the content of damaged muscle cells is released into plasma. Its manifestations include asymptomatic, myalgia, gross hematuria, and complications of acute kidney injury. Because of limited data on rhabdomyolysis in children, we performed this study to determine clinical characteristics of rhabdomyolysis in children. Methods: We retrospectively reviewed the records of patients with rhabdomyolysis who were treated at the Pusan National University Children's hospital from January 2011 to July 2016. The diagnostic criteria were serum myoglobin level of ${\geq}80ng/mL$, exclusive of acute myocardial injury, cardiac arrest, and brain damage. Results: Forty-five patients were enrolled; mean age, $116{\pm}68$ months. Of these, 35 were boys and 10 were girls. Twenty-six patients experienced myalgia and 12 patients showed gross hematuria. Among these, seven patients initially had both myalgia and gross hematuria. The most common causes of rhabdomyolysis were infection, physical exertion, prolonged seizures, metabolic abnormalities, and drug addiction. Acute kidney injury (AKI) was the most common complication, followed by disseminated intravascular coagulation. Thirty-seven patients improved with sufficient fluid supply but two patients underwent hemodialysis due to deterioration of kidney function. Gross hematuria, positive occult blood test, and positive urine protein were more common in patients with AKI than in those without AKI. Conclusions: In children, infection was the most common cause of rhabdomyolysis. Most patients recovered by sufficient fluid therapy. However, in severe cases, especially in patients with underlying kidney disease, hemodialysis may be necessary in the present study.

• Clinical and Experimental Pediatrics
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• 제53권8호
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• pp.809-813
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• 2010

Bartter syndrome (BS) is an autosomal recessively inherited rare renal tubular disorder characterized by hypokalemic metabolic alkalosis and hyperreninemic hyperaldosteronism with normal to low blood pressure due to a renal loss of sodium. Genetically, BS is classified into 5 subtypes according to the underlying genetic defects, and BS is clinically categorized into antenatal BS and classical BS according to onset age. BS type I is caused by loss-of-function mutations in the $SLC12A1$ gene and usually manifests as antenatal BS. This report concerns a male patient with compound heterozygous missense mutations on $SLC12A1$ (p.C436Y and p.L560P) and atypical clinical and laboratory features. The patient had low urinary sodium and chloride levels without definite metabolic alkalosis until the age of 32 months, which led to confusion between BS and nephrogenic diabetes insipidus (NDI). In addition, the clinical onset of the patient was far beyond the neonatal period. Genetic study eventually led to the diagnosis of BS type I. The low urinary sodium and chloride concentrations may be caused by secondary NDI, and the later onset may suggest the existence of a genotype-phenotype correlation. In summary, BS type I may have phenotype variability including low urine sodium and chloride levels and later onset. A definitive diagnosis can be confirmed by genetic testing.

• Journal of Genetic Medicine
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• 제14권2호
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• pp.80-85
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• 2017

Methylmalonic acidemia (MMA) is an autosomal recessive metabolic disorder characterized by an abnormal accumulation of methylmalonyl-CoA and methylmalonate in body fluids without hyperhomocysteinemia. Cardiac disease is a rarely known lethal complication of MMA, herein, we report a Korean neonate diagnosed with MMA on the basis of biochemical and genetic findings, who developed cardiomyopathy, resulting in sudden death. The patient presented vomiting and lethargy at 3 days of age. Initially, the patient had an increased plasma propionylcarnitine/acetylcarnitine concentration ratio of 0.49 in a tandem mass spectrometry analysis and an elevated ammonia level of $537{\mu}mol/L$. Urine organic acid analysis showed increased excretion of methylmalonate. Subsequent sequence analysis of the methylmalonyl-CoA mutase (MUT) gene revealed compound heterozygous mutations c.323G>A (p.Arg108His) in exon 1 and c.1033_1034del (p. Leu345Serfs*15) in exon 4, the latter being a novel mutation. In summary, this is the first case of MMA and cardiomyopathy in Korea that was confirmed by genetic analysis to involve a novel MUT mutation.

• Childhood Kidney Diseases
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• 제8권2호
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• pp.239-243
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• 2004

저자들은 두통, 안면 부종, 고열 및 옆구리 통증 등을 주소로 내원한 5세 여아에서 특징적인임상 양상과 검사 소견 등을 통하여 첫 발병시에 E. coli 감염에 의한 급성 신우신염이 병발한 급성 연쇄상구균 감염후 사구체신염으로 진단하고 치료한 증례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

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