• Genomics & Informatics
• /
• v.1 no.2
• /
• pp.94-100
• /
• 2003

Motivation: Many have observed a nonlinear relationship between the signal intensity and the transcript abundance in microarray data. The first step in analyzing the data is to normalize it properly, and this should include a correction for the nonlinearity. The commonly used linear normalization schemes do not address this problem. Results: Nonlinearity is present in both cDNA and oligonucleotide arrays, but we concentrate on the latter in this paper. Across a set of chips, we identify those genes whose within-chip ranks are relatively constant compared to other genes of similar intensity. For each gene, we compute the sum of the squares of the differences in its within-chip ranks between every pair of chips as our statistic and we select a small fraction of the genes with the minimal changes in ranks at each intensity level. These genes are most likely to be non-differentially expressed and are subsequently used in the normalization procedure. This method is a generalization of the rank-invariant normalization (Li and Wong, 2001), using all available chips rather than two at a time to gather more information, while using the chip that is least likely to be affected by nonlinear effects as the reference chip. The assumption in our method is that there are at least a small number of non­differentially expressed genes across the intensity range. The normalized expression values can be substantially different from the unnormalized values and may result in altered down-stream analysis.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
• /
• v.24 no.3
• /
• pp.132-140
• /
• 2013

Objectives : This study aims to investigate the effectiveness of an internet-based anger management program for school-aged children. Methods : Forty-eight elementary school students took part in an anger management training program; subsequently, participants, their parents, and their teachers answered questionnaires assessing the participants' anger, aggressiveness, and other emotional/behavioral problems, pre- and post-training. Results : At the post-training self-assessment, the participants showed significant reductions in their "anger-out" tendencies and physical aggressiveness. In addition, the effects of the program on "anger-out" tendencies, aggressiveness, anger and peer relational problem were found to be more significant in participants who reported depressive symptoms. Teachers rated the participants' peer-relational problems as having decreased after the training. Conclusion : The proposed internet-based anger management program had a significant effect on the school-aged children's abilities to control their anger.

• Genomics & Informatics
• /
• v.18 no.1
• /
• pp.6.1-6.9
• /
• 2020

Acute leukemia represents the most common pediatric malignancy comprising diverse subtypes with varying prognosis and treatment outcomes. New and targeted treatment options are warranted for this disease. Patient-derived xenograft (PDX) models are increasingly being used for preclinical testing of novel treatment modalities. A novel approach involving targeted error-corrected RNA sequencing using ArcherDX HemeV2 kit was employed to compare 25 primary pediatric acute leukemia samples and their corresponding PDX samples. A comparison of the primary samples and PDX samples revealed a high concordance between single nucleotide variants and gene fusions whereas other complex structural variants were not as consistent. The presence of gene fusions representing the major driver mutations at similar allelic frequencies in PDX samples compared to primary samples and over multiple passages confirms the utility of PDX models for preclinical drug testing. Characterization and tracking of these novel cryptic fusions and exonal variants in PDX models is critical in assessing response to potential new therapies.

• Childhood Kidney Diseases
• /
• v.23 no.2
• /
• pp.111-115
• /
• 2019

Vitamin D dependent rickets type 1A (VDDR1A) is an autosomal recessive disorder caused by mutations in CYP27B1. Clinical findings are growth retardation, hypotonia, muscle weakness, hypocalcemic seizures, and radiological features of rickets. We aimed to present the VDDR1A case with a genetic study of CYP27B1. The 14-month-old boy was admitted to the hospital due to a seizure. Serum calcium, phosphorus, alkaline phosphatase, parathyroid hormone (PTH), 25(OH) vitamin D, and 1,25(OH)2 vitamin D values were 5.1 mg/dL, 3.7 mg/dL, 705 IU/L, 429 pg/mL, 24.9 ng/mL, and 8.8 pg/mL, respectively. Radiological study showed cupping and fraying of the distal ulna and radius. The molecular genetic study revealed that the patient had a compound heterozygous mutation, $Phe443Profs^*24$ and c.589+1G>A, in CYP27B1. Genetic analysis of the family members presented that the mother was heterozygous for the mutation c.589+1G>A, and that the father was heterozygous for $Phe443Profs^*24$. The patient was treated with calcium lactate and calcitriol. Until now, six Korean patients with VDDR1A have been studied. Including this case, Korean patients with VDDR1A were found to have only three different mutations in 14 alleles, indicating that the mutation in the CYP27B1 gene is homogeneous in the Korean population.

• The Journal of Korean Academy of Sensory Integration
• /
• v.13 no.2
• /
• pp.21-29
• /
• 2015

Objective : This study compares sensory processing ability of children with and without spastic diplegia. In addition, it investigates characteristics of sensory processing differentiated by developmental phase such as pre-school age versus school age. Methods : Participants in this study are ordinal children without specific condition and children with spastic diplegia who are aged 3 to 10 years olds. Using Short Sensory Profile (SSP), sensory processing function of the participants was measured. The survey was distributed to caregivers of the children from November, 2013 to February, 2014, and it was suggested that the caregivers to record the questionnaire directly after approval from a rehabilitation hospital, a university hospital, welfare center, day care center, preschool and elementary school to participate in our study. Results : Group of children with spastic diplegia showed lower score than group of children with no special condition in the total score and the each score of all items of Short Sensory Profile. There was significant difference between the two groups in terms of the total score of sensory processing and the 5 factors except tactile sensitiveness and taste/smell sensitiveness among the 7 factors of test. In the comparison of different age groups, pre-school age group showed lower total score than school age group. Conclusion : This study provides a foundational evidence that can be used when therapist evaluate sensory processing function of children with spastic diplegia. There is need for more study about sensory processing functions of various types of children with cerebral palsy.

• Clinical and Experimental Pediatrics
• /
• v.59 no.sup1
• /
• pp.1-4
• /
• 2016

Congenital aniridia is a rare ocular malformation that presents with severe hypoplasia of the iris and various ocular manifestations. Most cases of congenital aniridia are known to be related to mutations in the paired box gene-6 (PAX6 ), which is an essential gene in eye development. Herein, we report a familial case of autosomal dominant congenital aniridia with four affected members in 3 consecutive generations and describe the detailed ophthalmologic findings for one of these members. As expected, mutational analysis revealed a nonsense mutation (p.Ser122*) in the PAX6 gene. Thus, our findings reiterate the importance of PAX6 mutations in congenital aniridia.

• Journal of Korean Neurosurgical Society
• /
• v.67 no.3
• /
• pp.289-298
• /
• 2024

Pediatric intracranial arteriovenous malformations (AVMs) are challenging lesions managed by pediatric neurosurgeons. The high risk of hemorrhage and neurologic injury is compounded by the unique anatomy of each malformation that requires individualizing treatment options. This article reviews the current status of pediatric AVM epidemiology, pathophysiology and clinical care, with a specific focus on the rationale and methodology of surgical resection.

• Mood & Emotion
• /
• v.16 no.3
• /
• pp.109-122
• /
• 2018

Objectives : The objective of this study was to revise the Korean Medication Algorithm Project for Bipolar Disorder (KMAP-BP) 2014: Children and Adolescents. Methods : We performed the survey, using a questionnaire comprising 22 questions according to each situation, in children and adolescents with bipolar disorder. Results : First-line pharmacotherapeutic strategies for manic episode in children with bipolar disorder were a combination of mood stabilizer (MS) and an atypical antipsychotics (AAP), monotherapy with an AAP, risperidone, and aripiprazole. Aripiprazole was selected as first-line medication for depressive episode in children with bipolar disorder, and aripiprazole, and risperidone were selected as first-line at high-risk children. First-line pharmacotherapeutic strategies for manic episode in adolescents were a combination of MS and an AAP, monotherapy with an AAP valproate, lithium, risperidone (Treatment of Choice, TOC), aripiprazole, and quetiapine. First-line pharmacotherapeutic strategies for depressive episode in adolescents, were a combination of an atypical antipsychotics and lamotrigine, valproate, aripiprazole (TOC), risperidone, and quetiapine. For depressive episodes in adolescents at high risk for bipolar disorder, valproate, aripiprazole (TOC), and risperidone were selected as first-line medication. Conclusion : We expect that the present KMAP-BP 2018-children and adolescents, is useful for clinicians to treat children and adolescents with bipolar disorder.

• Clinical and Experimental Pediatrics
• /
• v.63 no.3
• /
• pp.104-109
• /
• 2020

Background: It is challenging to diagnose asthma in preschool children. The asthma predictive index (API) has been used to predict asthma and decide whether to initiate treatment in preschool children. Purpose: This study aimed to investigate the association between questionnaire-based current asthma with API, pulmonary function, airway hyperreactivity (AHR), fractional expiratory nitric oxide (FeNO), and atopic sensitization in preschool children. Methods: We performed a population-based cross-sectional study in 916 preschool children aged 4-6 years. We defined current asthma as the presence of both physician-diagnosed asthma and at least one wheezing episode within the previous 12 months using a modified International Study of Asthma and Allergies in Childhood questionnaire. Clinical and laboratory parameters were compared between groups according to the presence of current asthma. Results: The prevalence of current asthma was 3.9% in the study population. Children with current asthma showed a higher rate of positive bronchodilator response and loose and stringent API scores than children without current asthma. The stringent API was associated with current asthma with 72.2% sensitivity and 82.0% specificity. The diagnostic accuracy of the stringent API for current asthma was 0.771. However, no intergroup differences in spirometry results, methacholine provocation test results, FeNO level, or atopic sensitization rate were observed. Conclusion: The questionnaire-based diagnosis of current asthma is associated with API, but not with spirometry, AHR, FeNO, or atopic sensitization in preschool children.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
• /
• v.28 no.2
• /
• pp.106-114
• /
• 2017

Objectives: This study was to examine the effectiveness of computerized cognitive ability enhancement program (CCAEP) using Smarttoy. The CCAEP using Smart-toy which can interact with children via bluetooth is a kids-friendly and convenient method for improving children's cognitive abilities by increasing their motivation for performing the program. We developed the CCAEP which designed to train auditory-verbal memory, visual-spatial memory, auditory-verbal working memory, and visual-spatial working memory. Methods: Eighteen children aged 8 to 10 participated in CCAEP individual training composed of 8 sessions of 40 minutes each for 4 weeks. The effect of the training was measured with Smart Toyweb's cognitive assessment tasks (smart device based assessment) as well as traditional neuropsychological tests before and after the training. Results: Children showed significant improvement in auditory-verbal memory, visual-spatial memory, auditory-verbal working memory and visual-spatial working memory abilities after the training. Conclusion: This study demonstrated promising results suggesting the effectiveness of CCAEP using Smart-Toy in clinical settings as well as school and home situations. Further controlled study with larger sample size including various clinical groups is needed to confirm the present results.