• 대한족부족관절학회지
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• 제1권2호
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• pp.75-80
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• 1997

정상 아동 124명에서 족부 단순방사선촬영 소견에서 편평족과 관련하여 방사선학적 계측치를 나이에 따라 비교한 결과 나이가 어릴수록 대부분이 편평족 소견을 보였고 나이가 많아짐에 따가 차츰 발아치가 형성되어 13세 이후에는 대부분의 예에서 성인과 비슷한 소견을 보였다. 따라서 아동에서는 방사선학적 계측에서 편평족 소견을 보이더라도 이를 치료할 필요가 있을지 결정하는데는 임상 소견이 더 중요할 것으로 사료된다. 본 연구는 정상아동에 대한 횡적 조사연구이므로 향후 종적 조사를 시행하면 나이에 따른 발아치의 변화를 좀 더 정확하게 파악할 수 있을 것으로 사료된다.

• Clinical and Experimental Pediatrics
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• 제55권5호
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• pp.171-176
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• 2012

Purpose: The aim of this study was to investigate the natural history of epilepsy and response to anti-epileptic drug treatment in patients with Angelman syndrome (AS) in Korea. Methods: We retrospectively reviewed the clinical records of 14 patients diagnosed with epilepsy out of a total of 17 patients with a genetic diagnosis of AS. These patients were seen at the Department of Pediatric Neurology at Severance Children's Hospital from March 2005 to March 2011. Results: Fourteen (9 males and 5 females) subjects (82.3%) were diagnosed with epilepsy in AS. The most common seizure types were generalized tonic-clonic (n=9, 27%) and myoclonic (n=9, 27%), followed by atonic (n=8, 24%), atypical absence (n=4, 12%) and complex partial seizure (n=3, 9%). The most commonly prescribed antiepileptic drug (AED) was valproic acid (VPA, n=12, 86%), followed by lamotrigine (LTG, n=9, 64%), and topiramate (n=8, 57%). According to questionnaires that determined whether each AED was efficacious or not, VPA had the highest response rate and LTG was associated with the highest rate of seizure exacerbation. Complete control of seizures was achieved in 6 patients. Partial control was achieved in 7 patients, while one patient was not controlled. Conclusion: Epilepsy is observed in the great majority of AS patients. It may have early onset and is often refractory to treatment. There are few reports about epilepsy in AS in Korea. This study will be helpful in understanding epilepsy in AS in Korea.

• Clinics in Orthopedic Surgery
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• 제10권4호
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• pp.484-490
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• 2018

Background: The use of three-dimensional multi-segment foot models (3D MFMs) is increasing since they have superior ability to illustrate the effect of foot and ankle pathologies on intersegmental motion of the foot compared to single-segment foot model gait analysis. However, validation of the repeatability of the 3D MFMs is important for their clinical use. Although many MFMs have been validated in normal adults, research on MFM repeatability in children is lacking. The purpose of this study is to validate the intrasession, intersession, and interrater repeatability of an MFM with a 15-marker set (DuPont foot model) in healthy children. Methods: The study included 20 feet of 20 healthy children (10 boys and 10 girls). We divided the participants into two groups of 10 each. One group was tested by the same operator in each test (intersession analysis), while the other group was tested by a different operator in each test (interrater analysis). The multiple correlation coefficient (CMC) and intraclass correlation coefficient (ICC) were calculated to assess repeatability. The difference between the two sessions of each group was assessed at each time point of gait cycle. Results: The intrasession CMC and ICC values of all parameters showed excellent or very good repeatability. The intersession CMC of many parameters showed good or better repeatability. Interrater CMC and ICC values were generally lower for all parameters than intrasession and intersession. The mean gaps of all parameters were generally similar to those of the previous study. Conclusions: We demonstrated that 3D MFM using a 15-marker set had high intrasession, intersession, and interrater repeatability in the assessment of foot motion in healthy children but recommend some caution in interpreting the hindfoot parameters.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제22권1호
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• pp.72-79
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• 2019

Purpose: The efficacy of exclusive enteral nutrition (EEN) with a polymeric diet has not been confirmed in Korean pediatric patients with Crohn's disease (CD). This study aimed to compare the effectiveness of EEN with a specific polymeric diet ($Encover^{(R)}$) and corticosteroids (CSs) for the induction of remission in Korean pediatric CD patients. Methods: We retrospectively compared data from 51 pediatric CD patients who underwent induction therapy with EEN (n=19) or CSs (n=32) at Severance Children's Hospital or Incheon St. Mary's Hospital in Korea. The primary endpoint of this study was the rate of clinical remission, defined as a Pediatric Crohn's Disease Activity Index (PCDAI) score <10, after 8 weeks of induction treatment. Clinical, laboratory, and growth data at post-induction as well as their changes from baseline were also compared between groups. Results: After 8 weeks of induction therapy, clinical remission rates were 78.9% (15/19) and 65.6% (21/32) in the EEN and CS groups, respectively (p=0.313). No significant differences in PCDAI scores, laboratory variables, and growth parameters were noted between the two groups at post-induction. However, significant changes in albumin levels at post-induction were observed in the EEN group compared to the CS group (p=0.038). Conclusion: Our results suggest that the effectiveness of EEN with a polymeric diet and CSs for induction therapy did not differ in Korean pediatric CD patients. EEN with a polymeric diet is a good first-line treatment option for the induction of remission in these patients.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제32권1호
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• pp.35-40
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• 2021

Objectives: Among the many intervention programs for children with autism spectrum disorder (ASD), the Early Start Denver Model (ESDM) is one of the few approaches that has succeeded in demonstrating clinical efficacy in randomized control trials. Here, we investigate the clinical efficacy of ESDM intervention in young children with ASD in a community setting within Japan. Methods: All subjects were children with ASD who received ESDM intervention during the study period. Each ESDM session lasted 75 min and occurred once per week for at least 12 weeks. The outcome measures consisted of the Kyoto Scale of Psychological Development (K-test), Aberrant Behavior Checklist-Japanese version (ABC-J), and the Clinical Global Impression-Severity scale (CGI-S). Results: Twenty-seven subjects (29.4±6.4 months old) received ESDM intervention that lasted for 8.0±2.6 months on average. The score on Language and Social developmental quotient on the K-test increased significantly after the intervention. The total scores on the ABC-J and CGI-S significantly decreased after completion of the ESDM intervention. Conclusion: Our results suggest that ESDM intervention could reduce the severity of distinct clinical features of ASD, such as impairments in social interaction and communication assessed by the K-test, and maladaptive behavior rated by the ABC-J and CGI-S. We believe that the ESDM adapted to each institution might become one of the standard options for children with ASD in Japan.

• Journal of Microbiology and Biotechnology
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• 제32권6호
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• pp.699-708
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• 2022

Antibiotic exposure during pregnancy have an adversely effects on offspring behavior and development. However, its mechanism is still poorly understood. To uncover this, we added ceftriaxone sodium to the drinking water of rats during pregnancy and conducted three-chamber sociability test, open-field test, and Morris water maze test in 3- and 6-week-old offspring. The antibiotic group offspring showed lower sociability and spatial learning and memory than control. To determine the role of the gut microbiota and their metabolites in the changes in offspring behavior, fecal samples of 6-week-old offspring rats were sequenced. The composition of dominant gut microbial taxa differed between the control and antibiotic groups. KEGG pathway analysis showed that S24-7 exerted its effects through the metabolic pathways including mineral absorption, protein digestion and absorption, Valine, leucine, and isoleucine biosynthesis. Correlation analysis showed that S24-7 abundance was negatively correlated with the level of VEGF, and metabolites associated with S24-7-including 3-aminobutanoic acid, dacarbazine, L-leucine, 3-ketosphinganine, 1-methylnicotinamide, and N-acetyl-L-glutamate-were also significantly correlated with VEGF levels. The findings suggest that antibiotic exposure during pregnancy, specifically ceftriaxone sodium, will adversely affects the behavior of offspring rats due to the imbalance of gut microbiota, especially S24-7, via VEGF and various metabolic pathways.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제5권1호
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• pp.62-67
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• 2002

목적: 국내 소아에서 유당 흡수장애 유병률이 변화하는 연령을 파악하고 생리적 용량의 db당부하 호기 수소검사 시 유병률을 알아보고자 본 연구를 시행하였다. 방법: 1998년 5월부터 1998년 8월까지 서울의 초등학교 및 유치원 한 곳, 어린이집 두 곳의 건강한 소아를 대상으로 표준 유당부하 호기내 수소검사는 생후 25개월에서 96개월까지 총 129명(남아 75명, 여아 52명), 생리적 용량의 유당부하 호기내 수소검사는 생후 25개월에서 84개월까지 총 126명(남아 72명, 여아 51명)에서 시행하였다. 호기 검체는 공복시 기저치, 유당부하 60분, 120분 후에 각각 수집하여 Model 12i Microlyzer (Quintron, USA)를 이용하여 분석하였다. 결과: 1) 표준 유당부하 호기내 수소검사에서 유당 흡수장애의 유병률은 생후 25~36개월에서 7%, 생후 37~48개월에서 19%, 생후 49~60개월에서 35%, 생후 61~72개월에서 55%, 생후 73~84개월에서 82%, 생후 84~96개월에서 80%였다. 2) 표준 유당부하 호기내 수소검사에서 유당불 내성의 유병률은 생후 25~36개월에서 0%, 생후 37~48개월에서 9%, 생후 49~60개월에서 17%, 생후 61~72개월에서 22%, 생후 73~84개월에서 41%, 생후 84~96개월에서 70%였다. 3) 생리적 용량의 유당부하 호기내 수소검사에서 생후 25개월부터 84개월까지 총 126명의 소아중 한 명에서만 유당 흡수장애를 보였으며 유당불 내성은 한명도 없었다. 결론: 한국인 소아의 유당 흡수장애 유병률은 생후 37개월부터 60 개월에 증가하며 생후 72개월 이후에는 성인의 유병률에 도달하게 된다. 유당 흡수장애군에서도 생리적 용량의 유당을 포함한 우유의 섭취는 임상적으로 문제가 되지 않음을 확인할 수 있었다.

• Journal of Genetic Medicine
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• 제16권2호
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• pp.67-70
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• 2019

Limb-girdle muscular dystrophy (LGMD) is a group of muscular dystrophies that has extremely heterogeneous clinical features and genetic background. The caveolin-3 gene (CAV3) is one of the causative genes. LGMD appears as a clinical continuum, from isolated skeletal muscle involvement to long QT syndrome. Here we report two patients without apparent muscle weakness in a family with CAV3 mutation. A 7-month-old Korean boy visited our muscle clinic because of an incidental finding of elevated serum creatine kinase (CK) concentration (680 IU/L, reference range, 20-270 IU/L) without clinical symptoms. The patient was born after an uneventful pregnancy and showed normal developmental milestones. He developed pseudohypertrophy of his calf muscle during the follow-up. We obtained a muscle biopsy at age 14 months, which showed size variations and degenerating/regenerating myofibers with endomysial fibrosis and immunohistochemical evidence of normal dystrophin. Under the impression of LGMD, we performed target panel sequencing and identified a heterozygous in-frame mutation of CAV3, c.307_312delGTGGTG (p.Val103_Val104del). Immunohistochemical staining of muscle indicated complete loss of caveolin-3 compared with normal control muscle, which supported the variant's pathogenicity. We performed segregation analysis and found that the patient's mother had the same variant with elevated serum CK level (972 IU/L). We report on autosomal dominant familial caveolinopathy caused by a pathogenic variant in CAV3, which was asymptomatic until the fourth decade. This case highlights the utility of next generation sequencing in the diagnosis of muscular dystrophies and the additive role of muscle biopsy to confirm the variants.

• Childhood Kidney Diseases
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• 제24권1호
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• pp.58-61
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• 2020

Pseudohypoaldosteronism type 1 (PHA1) is a rare salt-wasting disorder caused by resistance to mineralocorticoid action. PHA1 is of two types with different levels of disease severity and phenotype as follows: systemic type with an autosomal recessive inheritance (caused by mutations of the epithelial sodium channel) and renal type with an autosomal dominant inheritance (caused by mutations in the mineralocorticoid receptor). The clinical manifestations of PHA1 vary widely; however, PHA1 commonly involves hyponatremia, hyperkalemia, metabolic acidosis and elevated levels of renin and aldosterone. The earliest signs of both type of PAH1 also comprise insufficiency weight gain due to chronic dehydration and failure to thrive during infancy. Here, we report a case of renal PAH1 in a 28-day-old male infant harboring a novel heterozygous mutation in NR3C2 gene (c.1341_1345dupAAACC in exon 2), showing only failure to thrive without the characteristic of dehydration.

• Childhood Kidney Diseases
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• 제24권1호
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• pp.27-35
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• 2020

Purpose: Urinary tract infections (UTIs) are the most common and serious bacterial infections in children. Therefore, early diagnosis of vesicoureteral reflux (VUR) for treatment planning and the identification of noninvasive markers that can predict renal injury are important in patients with UTIs. We analyzed the clinical features of pediatric UTIs commonly encountered by general practitioners and reinterpreted the blood tests and imaging findings to identify the important clinical predictive markers of VUR in order to selectively perform VCUG. Methods: This retrospective study was performed among 183 children diagnosed with a UTI or acute pyelonephritis. Results: The most significant predictor of high grade and bilateral VUR identified using area under the curve analyses was hydronephrosis on kidney ultrasound images with renal cortical defects on dimercaptosuccinic acid (DMSA) kidney scan simultaneously, followed by hydronephrosis only on kidney ultrasound. Conclusion: The presence of hydronephrosis on kidney ultrasound images or cortical defects or asymmetric kidneys on the DMSA kidney scans can be predictive markers of VUR, reducing the need for VCUG. Our study can thus help minimize the exposure to radiation among patients through selective VCUG.