• Clinical and Experimental Pediatrics
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• 제48권7호
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• pp.701-705
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• 2005

목 적 : 부모에게서 받은 유전정보는 자손의 유전표현에 필수적인 역할을 한다. 만일 어머니나 아버지로부터 받는 유전자가 서로 전좌가 일어날 경우 자손에게 부여되는 유전정보는 충분하지 않거나 필요이상으로 많이 받게 되어 자손에게 임상적 문제점을 일으킬 수가 있다. 임상적으로 정상인 부모로부터 태어나 정신발달이상과 행동발달지연을 보인 한 가족의 세포 유전학적인 연구와 임상 소견들을 관찰하여 원인규명과 앞으로의 예후를 평가할 목적으로 이 연구를 실시하였다. 방 법 : 대상 환아는 충남대학교병원 소아과에 입원한 11세의 여아와 가족의 총 5명으로 하였다. 환자의 병력청취와 이학적 검사, 가족력조사를 시행하였으며 원인을 밝히기 위하여 염색체 분석, FISH, 대사질환 분석, 정신 사회학적 검사인 소아정신과 상담과 치료받은 기록 및 사회성숙도 검사, 심리평가, EEG를 실시하였고, 성장발달검사를 위해 혈액검사와 방사선학적 검사, 내분비 검사를 시행하였다. 결 과 : 염색체 검사는 환아의 아버지와 언니는 정상이었고 환아의 어머니는 임상적으로 정상이었지만, 46, XX. t(15,18)(p11.2;p11.3)을 보였고, 남동생은 복부비만, 과식, 난폭한 행동, 괴성, 주의력 산만, 학습장애, 언어 발달 지연 등의 임상 소견을 보이면서 46, XY der(15) t(15;18)(p11.2;p11.3)이며 환아는 46, XX. der(18) t(15;18)(p11.2;p11.3)로 대사이상 검사상 미토콘드리아 기능 저하를 의심할 수 있는 소견과 내분비 검사상 성장호르몬 결핍소견을 보였고, 운동 및 신경정신과적 발달 검사상 행동발달 지연, 언어발달 지연, 사회성 발달지연 및 중등도의 정신 지체를 보였다. 결 론 : 정상인 아버지와 임상적으로 정상이면서 균형전좌(balanced translocation)인 46, XX. t(15,18)(p11.2;p11.3)를 갖는 어머니로부터 태어난 자녀들이 염색체 15번 장완과 18번 장완의 비균형 전좌(unbalanced translocation)로 인해 이형성(dysmorphogenesis)을 유발하고, 뇌의 전반적인 기능저하, 얼굴 모양의 기형, 성장지연, 면역력의 저하 등 다양한 임상소견을 보임을 알 수 있었다.

• Clinical and Experimental Pediatrics
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• 제55권2호
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• pp.35-41
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• 2012

Passive exposure to tobacco smoke significantly contributes to morbidity and mortality in children. Children, in particular, seem to be the most susceptible population to the harmful effects of environmental tobacco smoke (ETS). Paternal smoking inside the home leads to significant maternal and fetal exposure to ETS and may subsequently affect fetal health. ETS has been associated with adverse effects on pediatric health, including preterm birth, intrauterine growth retardation, perinatal mortality, respiratory illness, neurobehavioral problems, and decreased performance in school. A valid estimation of the risks associated with tobacco exposure depends on accurate measurement. Nicotine and its major metabolite, cotinine, are commonly used as smoking biomarkers, and their levels can be determined in various biological specimens such as blood, saliva, and urine. Recently, hair analysis was found to be a convenient, noninvasive technique for detecting the presence of nicotine exposure. Because nicotine/cotinine accumulates in hair during hair growth, it is a unique measure of longterm, cumulative exposure to tobacco smoke. Although smoking ban policies result in considerable reductions in ETS exposure, children are still exposed significantly to tobacco smoke not only in their homes but also in schools, restaurants, child-care settings, cars, buses, and other public places. Therefore, more effective strategies and public policies to protect preschool children from ETS should be consolidated.

• Neonatal Medicine
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• 제16권2호
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• pp.131-136
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• 2009

Preterm infants are frequently discharged from the hospital with growth retardation. Given the potentially lifelong effects of growth impairmnet during a critical time of development, considerable effort should be focused on improving growth after discharge. Growth monitoring must be based on regular measurements of weight, length, and head circumference to identify those preterm infants with poor growth that may need additional nutritional support. Although prior studies vary in design and the intervention used, the evidence supports the use of fortified formulas in formula-fed preterm infants after discharge. The situation for infants fed human milk is much less clear, it seems prudent to concentrate our efforts on the encouragement of breast-feeding in this population. Catch up growth may have many benefits, and may lead to improved development. However, its long-term metabolic consequences are currently unclear. Understanding the optimal means of providing nutrition after discharge is an ongoing process.

• 한방재활의학과학회지
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• 제18권3호
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• pp.133-145
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• 2008

Objectives : The aim of this study was to observe and analysis the effectiveness of clinical treatments on the growth of children treated with Korean herbal medicine (KHM). Methods : Forty-two children of growth retardation were evaluated from January 2007 to May 2008. All children were administered KHM with diet and exercise guidance. Height percentile and predictive height were calculated following the General Growth Statistics Result (2007), and compared those of pre-treatment with post-treatment. Results : Thirty-one of them were improved (73.8%) and eleven were not (26.2%). The mean growth rate was 7.2cm/yr for male and 6.8cm/yr for female. The mean growth percentile of male showed 7.6% improvement (p=0.003), female 4.4% respectively (p=0.036). The mean predictive height of male showed 2.2cm improvement (p=0.005), female 1.0cm respectively (p=0.007). Change of growth percentile and height were significantly higher on period of prepuberty, and in small children below 50% of height percentile. About inter-relations between growth improvement and compliance of diet, exercise or medication, meaningful statistics were shown in diet control than the others (p=0.077). Diet compliance was in close connection with exercise, but others were not shown close correlations. Conclusions : These results showed that KHM showed promising results on children growth and healthy diet would be an important factor for growth of children. And it was recommended that KHM should be applied on period of prepuberty and smaller than average height.

• Clinical and Experimental Pediatrics
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• 제56권10호
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• pp.417-423
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• 2013

Vitamin D is an essential component of bone and mineral metabolism; its deficiency causes growth retardation and skeletal deformities in children and osteomalacia and osteoporosis in adults. Hypovitaminosis D (vitamin D insufficiency or deficiency) is observed not only in adults but also in infants, children, and adolescents. Previous studies suggest that sufficient serum vitamin D levels should be maintained in order to enhance normal calcification of the growth plate and bone mineralization. Moreover, emerging evidence supports an association between 25-hydroxyvitamin D (25[OH]D) levels and immune function, respiratory diseases, obesity, metabolic syndrome, insulin resistance, infection, allergy, cancers, and cardiovascular diseases in pediatric and adolescent populations. The risk factors for vitamin D insufficiency or deficiency in the pediatric population are season (winter), insufficient time spent outdoors, ethnicity (non-white), older age, more advanced stage of puberty, obesity, low milk consumption, low socioeconomic status, and female gender. It is recommended that all infants, children, and adolescents have a minimum daily intake of 400 IU ($10{\mu}g$) of vitamin D. Since the vitamin D status of the newborn is highly related to maternal vitamin D levels, optimal vitamin D levels in the mother during pregnancy should be maintained. In conclusion, given the important role of vitamin D in childhood health, more time spent in outdoor activity (for sunlight exposure) and vitamin D supplementation may be necessary for optimal health in infants, children, and adolescents.

• Clinical and Experimental Pediatrics
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• 제48권8호
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• pp.799-805
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• 2005

Hypothyroidism is a deficiency in thyroid hormone secretion by the thyroid gland and a defect in thyroid hormonal receptor activity. It is categorized by the two major forms in children, the one is congenital hypothyroidism and the other is acquired hypothyroidism. Congenital hypothyroidism is one of the commonest treatable causes of mental retardation and occurs in 1 in 3,000-4,000 infants worldwide. Acquired hypothyroidism is a diseases that have an onset usually after 6 months of age and it may be relate to deceleration in linear growth. The objectives of this article are obtain general and practical concepts of congenital and acquired hypothyroidism during infancy, childhood, and adolescence.

• Reproductive and Developmental Biology
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• 제34권2호
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• pp.81-88
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• 2010

Our objective of current study was to investigate the development of bone and heart in association with diabetes mellitus (DM). DM was induced by administering an intraperitoneal injection of streptozotocin (STZ; 60 mg/kg) to 4-week-old Sprague-Dawley rats. Body weight and blood glucose were monitored, and rats were sacrificed after 2 or 5 weeks. The left ventricle (LV), including the interventricular septum, was weighed, and body weight and tibial bone length were assessed. Young diabetic rats showed reduced growth in terms of tibial length and body weight compared to controls. Moreover, diabetic males showed more significant growth suppression and reduced LV size than diabetic females. Morphometric analysis of tibiae from diabetic rats revealed suppressed bone growth at 2 and 5 weeks, with no difference between genders. STZ-induced diabetes decreased bone growth and retarded pre-pubertal heart development. As a result, diabetes may increase cardiovascular risk factors and lead to eventual heart failure. Therefore, new therapeutic approaches are required for diabetic children exhibiting growth retardation. Heart growth factor, exercise, and cardiopulmonary physical therapy may be required to promote heart development and physiological function.

• Journal of Genetic Medicine
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• 제11권1호
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• pp.36-39
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• 2014

Chromosome 3 (3p) deletion syndrome is a rare genomic disorder caused by a deletion at the terminal end of the short arm of chromosome 3. The primary characteristics of the syndrome are delayed development, dysmorphic features, and several other congenital anomalies. Here, we describe the case of a 2-year-old Korean girl with typical features of 3p deletion syndrome, including dysmorphic facial features, low birth weight, developmental delay, growth and cognitive retardation, and congenital heart disease. This case represents the first report of 3p deletion syndrome in Korea. Although phenotypes can be variable among patients, a clinically recognizable pattern has been described for this genetic defect, and our report helps to identify other cases with 3p deletion syndrome from a clinical and genetic perspective.

• Journal of Genetic Medicine
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• 제11권2호
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• pp.74-78
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• 2014

Sotos syndrome (SS, OMIM 117550) is characterized by prenatal and postnatal overgrowth with multiple congenital anomalies. However, there have been few cases of growth retardation caused by renal failure from infancy. We report a case of dysplasia of the bilateral kidneys with renal failure and poor postnatal growth. A 2-month-old boy visited the emergency room owing to poor oral intake and abdominal distension. He was born at the gestational age of 38 weeks with a birth weight of 4,180 g. After birth, he had feeding difficulty and abdominal distension. Upon physical examination, his height and weight were in less than the 3rd percentile, while his head circumference was in the 50th percentile on the growth curve. He also showed a broad and protruding forehead and high hairline. Blood laboratory tests showed severe azotemia; emergent hemodialysis was needed. Abdominal ultrasonography revealed bilateral renal dysplasia with multiple cysts and diffuse bladder wall thickening. A posterior urethral valve was suggested based on vesicoureterography and abdominal magnetic resonance findings. Results of a colon study to rule out congenital megacolon did not reveal any specific findings. The conventional karyotype of the patient was 46, XY. Array comparative genomic hybridization study revealed a chromosome 5q35 microdeletion including the NSD1 gene, based on which SS was diagnosed. We describe a case of SS presenting with end stage renal disease due to posterior urethral valve. The typical somatic overgrowth of SS in the postnatal period was not observed due to chronic renal failure that started in the neonatal period.

• Clinical and Experimental Pediatrics
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• 제45권5호
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• pp.646-653
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• 2002

목 적 : 최근에 비만증의 증가와 함께 소아에서 2형 당뇨병의 발생 빈도가 증가하는 경향이 있어 우리나라 소아 연령에서 2형 당뇨병의 발생빈도 및 그 특성을 규명하고자 본 연구를 시행하였으며 자궁내 성장지연과의 관계도 분석하였다. 방 법 : 1990년 3월에서 2000년 12월까지 연세의료원 소아과에서 2형 당뇨병으로 진단받은 소아 25명을 대상으로 분석하였다. 결 과 : 소아에서 1형 당뇨병과 2형 당뇨병은 1990년 이후에 모두 증가하였으며 소아에서 발병한 당뇨병 중 2형이 차지하는 비율은 연도별로 볼 때 1990년에 5.3%(1/19)였던 것이 2000년에 21.0%(8/38)로 급격히 증가하였다. 총 25명 중 비만군이 68%(17/25)였고 비비만군이 32%(8/25)였다. 진단 당시의 주증상은 다음, 다뇨, 다식 증상이 48%(12/25), 학교 신체 검사에서 무증상 당뇨로 발견된 경우가 40%(10/25)였고 그외 체중 감소, 비만으로 우연히 발견된 경우였다. 진단당시 평균 연령은 $12.9{\pm}1.8$세였다. 25명 중 64%(16/25)에서 당뇨병의 가족력이 있었다. 자가항체 검사는 18.1%(4/22)에서 양성이었다. 총 7례에서 동반 질환이 있었으며 비만과 관련하여 지방간 등이 있었다. 치료는 모두 진단 후 경구용 혈당 강하제를 사용하였고 혈당 조절이 잘 되지 않았던 3명에서 인슐린을 추가하였다. 장기 합병증은 4명에서 발생하였다. 자궁내 성장지연은 9명에서 있었고 이들 중 8명은 비 비만군 당뇨병이었다. 결 론 : 최근 비만증과 관련되어 소아에서 2형 당뇨병이 증가하는 추세이고 비비만군 당뇨병 환아에서는 자궁내 성장 지연이 상관관계가 있으리라고 생각되며 소아에서 2형 당뇨병은 국가적인 차원에서 예방 및 치료책이 제시되어야 할 것이다.