• Clinical and Experimental Pediatrics
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• 제61권11호
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• pp.348-354
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• 2018

Purpose: The purpose of this study was to identify the causes, symptoms, and complications of hypoproteinemia to prevent hypoproteinemia and provide appropriate treatment to children with atopic dermatitis. Methods: Children diagnosed with atopic dermatitis with hypoproteinemia and/or hypoalbuminemia were retrospectively reviewed. The patients' medical records, including family history, weight, symptoms, treatment, complications, and laboratory test results for allergies and skin cultures, were examined. Results: Twenty-six patients (24 boys) were enrolled. Seven cases had growth retardation; 7, keratoconjunctivitis; 6, aural discharges; 5, eczema herpeticum; 4, gastrointestinal tract symptoms; and 2, developmental delays. In 21 cases, topical steroids were not used. According to the blood test results, the median values of each parameter were elevated: total IgE, 1,864 U/mL; egg white-specific IgE, $76.5kU_A/L$; milk IgE, $20.5kU_A/L$; peanut IgE, $30kU_A/L$; eosinophil count, $5,810/{\mu}L$; eosinophil cationic protein, $93.45{\mu}g/L$; and platelet count, $666.5{\times}10^3/{\mu}L$. Serum albumin and total protein levels decreased to 2.7 g/dL and 4.25 g/dL, respectively. Regarding electrolyte abnormality, 10 patients had hyponatremia, and 12, hyperkalemia. Systemic antibiotics were used to treat all cases, and an antiviral agent was used in 12 patients. Electrolyte correction was performed in 8 patients. Conclusion: Hypoproteinemia accompanying atopic dermatitis is common in infants younger than 1 year and may occur because of topical steroid treatment continuously being declined or because of eczema herpeticum. It may be accompanied by growth retardation, keratoconjunctivitis, aural discharge, and eczema herpeticum and can be managed through skin care and topical steroid application without intravenous albumin infusion.

• Advances in pediatric surgery
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• 제14권2호
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• pp.117-124
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• 2008

Children who underwent reparative operations for esophageal atresia (EA) with or without tracheoesophageal fistula (TEF), are confronted with many gastrointestinal or respiratory problems, especially during the early years of life. We reviewed the medical records of 50 patients who underwent repairs of EA with or without TEF at the Division of Pediatric Surgery, Samsung Medical Center, from December 1994 to December 2005. Current status of children was accessed by telephone-interview, but only 27 of them were accessible. Of 50 patients, 3 patients (6 %) were type A, 45 patients (90 %) were type C, and 2 patients (4 %) were type E. The mean interval between primary operation and interview was 5.5 years. The incidences of growth retardation (<10 percentile of height/weight) were 39 % and 21 % during the first 5 years after repairs, respectively. The incidences of dysphagia or gastroesophageal reflux and recurrent respiratory infections were 33 % and 39 %, respectively. However, these problems were likely to improve as the children grew. The incidences of growth retardations (<10 percentile of height/weight) were 11 % and 11 % for the children more than five years postoperative. The incidences of dysphagia or gastroesophageal reflux and recurrent respiratory infections were 22 % and 22 %, respectively. Children with EA with or without TEF are faced with many obstacles. Close observation and adequate treatment for delayed postoperative complications are necessary to improve the quality of life for these children.

• Journal of Korean Neurosurgical Society
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• 제66권6호
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• pp.642-651
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• 2023

Objective : Endothelial colony-forming cells (ECFCs) have been reported to play an important role in the pathogenesis of moyamoya disease (MMD). We have previously observed stagnant growth in MMD ECFCs with functional impairment of tubule formation. We aimed to verify the key regulators and related signaling pathways involved in the functional defects of MMD ECFCs. Methods : ECFCs were cultured from peripheral blood mononuclear cells of healthy volunteers (normal) and MMD patients. Low-density lipoproteins uptake, flow cytometry, high content screening, senescence-associated β-galactosidase, immunofluorescence, cell cycle, tubule formation, microarray, real-time quantitative polymerase chain reaction, small interfering RNA transfection, and western blot analyses were performed. Results : The acquisition of cells that can be cultured for a long time with the characteristics of late ECFCs was significantly lower in the MMD patients than the normal. Importantly, the MMD ECFCs showed decreased cellular proliferation with G1 cell cycle arrest and cellular senescence compared to the normal ECFCs. A pathway enrichment analysis demonstrated that the cell cycle pathway was the major enriched pathway, which is consistent with the results of the functional analysis of ECFCs. Among the genes associated with the cell cycle, cyclin-dependent kinase inhibitor 2A (CDKN2A) showed the highest expression in MMD ECFCs. Knockdown of CDKN2A in MMD ECFCs enhanced proliferation by reducing G1 cell cycle arrest and inhibiting senescence through the regulation of CDK4 and phospho retinoblastoma protein. Conclusion : Our study suggests that CDKN2A plays an important role in the growth retardation of MMD ECFCs by inducing cell cycle arrest and senescence.

• Childhood Kidney Diseases
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• 제24권2호
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• pp.115-119
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• 2020

Distal renal tubular acidosis (dRTA) is a rare renal tubular disorder characterized by normal anion gap metabolic acidosis, hypokalemia, and high urine pH. It can be inherited or acquired. In untreated pediatric patients with dRTA, rickets and growth retardation are common. We report the case of a 12-year-old Lao girl who presented with typical clinical features of dRTA with severe bone deformities that developed after a bed-ridden state due to a bicycle accident at the age of 8 years. Initial laboratory tests revealed metabolic acidosis with a normal anion gap, hypokalemia, and alkali urine. Renal ultrasonography revealed bilateral medullary nephrocalcinosis. Whole exome sequencing revealed no pathogenic mutations. After treatment with oral alkali, potassium, and vitamin D, she could walk and run. Later, she underwent corrective orthopedic surgeries for bony deformities. Thus, in pediatric dRTA patients, despite severe symptoms remaining untreated, accurate diagnosis and proper management can improve quality of life.

• Journal of Nutrition and Health
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• 제8권4호
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• pp.9-14
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• 1975

Growth retardation and a variable degree of body disproportion are recognized features of malnutrition, and mild and moderate protein-calorie malnutrition(PCM). Among the various body measurements suggested to assess the prevalence of all grades of PCM as judged by growth retardation and by body disproportion, the 'mid-upper-arm circumference'-abbreviated to 'arm-circumference' has been suggested as a potential useful simple field index for the assessment of PCM showing that the measurement would give composite information simultaneously on three important effects on PCM-deficit in the muscle protein reservoirs, availability of calorie stores in the form of subcutaneous fat, and growth failure. And this is selected because of its easy accessibility, and less involvement with clinical edema. This study is conducted to make a comparison between the percentage of Korean weight for age standards and the percentage of mid-upper-arm circumference for age standards of 175 preschool children aged $3{\sim}72$ months who are selected among the low-income residents in Seoul. In this study, a comparison is made between the results obtained by expressing the observed weight of the child as a percentage of Korean standard, referred to as 'weight-for-age' and the observed arm-circumference expressed as a percentage of the age-specific arm standard of Jelliffe, referred to as 'arm-for-age'. All the measurements were taken following the techniques described by Jelliffe. The left mid upper arm was measured using a glass-fibre tape and the Fairbanks Morse beam balance was used for weighing. 80% level of weight for age Korean standard and 85% level of arm for are Jelliffe standard were used as an upper borderline limit for PCM. Comparing the 80% weight-for-age and the 85% arm-for-age standard as an upper limit for PCM, for children aged $3{\sim}72$ months, results in 84.6% agreement with the sensitivity of 86.4% and its specificity of 83.5%. If arm circumference alone had been measured and judgement made on this basis, then only 5.1% of the children would have been 'wrongly' classified. And there is a moderately close correlation between arm circumference and weight for age as the data in Table 4 shows. The problem therefore lies in the standard for arm circumference in normal children and in determining what is the lower limit of normal. Once this is clearly difined, one can rely more confidently on arm circumference measurements alone for the nutritional assessment of early childhood.

• Clinical and Experimental Pediatrics
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• 제61권7호
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• pp.221-225
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• 2018

Purpose: Congenital hypothyroidism (CH) is the most common endocrine disorder in children. Thyroid hormone deprivation results not only in mental retardation but also growth retardation. This study investigates the final height (FH) in Korean patients with CH detected by newborn screening and examines factors that may affect the FH. Methods: The medical records of Korean CH patients (n=45) were reviewed. The FH was examined and target height (TH) was calculated based on mid-parental height. The FH z score (FHZ) and TH z score (THZ) were computed using the 2007 Korean National Growth Chart. The FHZ and THZ were compared with a Student t test. The impact of the etiology of CH (athyreosis, dyshormonogenesis, ectopic thyoid, hypoplastic thyroid), initial serum thyroid stimulating hormone (TSH) level, initial free thyroxine (T4) level, and time of therapy initiation based on FH was assessed. Results: The mean FHZ was $0.10{\pm}1.01$ for male patients and $-0.11{\pm}1.09$ for female patients. There were no significant differences between FHZ and THZ for both female (P=0.356) and male patients (P=0.237). No significant relationship was found between FH and the etiology of CH, initial TSH level, initial free T4 level, and the time of therapy initiation. Conclusion: Early intervention and satisfactory management do not appear to impede growth in Korean patients with CH. Thus, early detection and proper management of patients with CH detected by newborn screening program are necessary.

• Clinical and Experimental Pediatrics
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• 제60권12호
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• pp.408-412
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• 2017

Combined oxidative phosphorylation deficiency-17 (COXPD-17) is very rare and is caused by homozygous or compound heterozygous mutations in the ELAC2 gene on chromosome 17p12. The ELAC2 gene functions as a mitochondrial tRNA processing gene, and only 4 different pathogenic mutations have been reported in ELAC2-associated mitochondrial dysfunction involving oxidative phosphorylation. Affected patients show various clinical symptoms and prognosis, depending on the genotype. We report a novel mutation in the ELAC2 gene (c.95C>G [p.Pro32Arg], het), in an infant with COXPD-17 who presented with encephalopathy including central apnea and intractable epilepsy, and growth and developmental retardation. During hospitalization, consistently elevated serum lactic acid levels were noted, indicative of mitochondrial dysfunction. The patient suddenly died of shock of unknown cause at 5 months of age. This is the first case report of COXPD-17 in Korea and was diagnosed based on clinical characteristics and genetic analysis.

• Childhood Kidney Diseases
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• 제9권1호
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• pp.102-107
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• 2005

저자들은 신성 골이양증을 내과적으로 치료하였으나 호전되지 않아 골격계 변형을 초래하여수술적 치료를 시행한 1례를 경험하였기에 보고하는 바이다.

• 대한소아치과학회지
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• 제31권1호
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• pp.120-125
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• 2004

Cornelia de Lange Syndrome은 이형성적 특징들에 의해 특징 지워지는 증후군으로서 정확히 알려지지 않은 원인을 가진 이상증이다. 이 증후군은 이형성적 임상증상에 의거하여 진단되기 때문에 염색체 검사, 유전자 검사 등의 진단 목적의 다른 검사들은 유효하지 않다고 할 수 있다. 임상증상으로는 전반적 발육 장애 정신지체, 외소증 다모증(hypertrichosis), 갈매기 모양의 눈썹(confluent eye brows), 낮은 헤어라인, 낮고 평평한 코, 위로 들린 코끝, 사지 기형, 발가락의 합지증(webbing), 심장기형, 위식도 역류 질환, 청력 이상, 그리고 안 질환 등이 나타나며 구강관련 증상으로는 왜소악 치아 맹출 지연, 구순 구개열, 높은 구개궁, 얇은 상순, 그리고 처진 구각 등이 나타난다. 본 증례에서는 전북대학교병원 소아치과에 치아 우식증을 주소로 내원한 Cornelia do Lange Syndrome을 가진 3세 및 4세 여환의 치료 예를 보고하는 바이다.

• 대한소아치과학회지
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• 제37권1호
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• pp.124-129
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• 2010

Seckel 증후군은 상염색체 열성 유전질환으로 태내에서의 성장지연에 따른 출생 후의 소인증, 심한 소두증을 나타내며, 큰 눈과 돌출된 코, 후퇴된 하악을 동반한 새 모양의 안모가 특징적이다. 다른 임상증상으로는 관절의 결함, 내반족, 드문드문 난모발, 비뇨생식기의 이형성, 정신지체, 혈액학적 이상 등이 나타날 수 있다. Seckel 증후군의 구강 내 소견으로는 부정교합, 법랑질 저형성증, 일부 치아의 선천적 결손, 우상치 등이 나타날 수 있다. 본 증례는 Seckel 증후군을 보이는 두 증례에서 발육부전, 새 모양의 안모, 비뇨기과적 기형, 치아의 저형성과 부정교합 등 다양한 전신증상과 구강 내 증상들을 보였기에 이를 보고하는 바이다.