• Clinical and Experimental Pediatrics
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• 제59권sup1호
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• pp.25-28
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• 2016

Phelan-McDermid syndrome is a rare genetic disorder caused by the terminal or interstitial deletion of the chromosome 22q13.3. Patients with this syndrome usually have global developmental delay, hypotonia, and speech delays. Several putative genes such as the SHANK3, RAB, RABL2B, and IB2 are responsible for the neurological features. This study describes the clinical features and outcomes of Korean patients with Phelan-McDermid syndrome. Two patients showing global developmental delay, hypotonia, and speech delay were diagnosed with Phelan-McDermid syndrome via chromosome analysis, fluorescent in situ hybridization, and multiplex ligation-dependent probe amplification analysis. Brain magnetic resonance imaging of Patients 1 and 2 showed delayed myelination and severe communicating hydrocephalus, respectively. Electroencephalography in patient 2 showed high amplitude spike discharges from the left frontotemporoparietal area, but neither patient developed seizures. Kidney ultrasonography of both the patients revealed multicystic kidney disease and pelviectasis, respectively. Patient 2 experienced recurrent respiratory infections, and chest computed tomography findings demonstrated laryngotracheomalacia and bronchial narrowing. He subsequently died because of heart failure after a ventriculoperitoneal shunt operation at 5 months of age. Patient 1, who is currently 20 months old, has been undergoing rehabilitation therapy. However, global developmental delay was noted, as determines using the Korean Infant and Child Development test, the Denver developmental test, and the Bayley developmental test. This report describes the clinical features, outcomes, and molecular genetic characteristics of two Korean patients with Phelan-McDermid syndrome.

• Journal of Genetic Medicine
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• 제12권1호
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• pp.38-43
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• 2015

Purpose: Spinocerebellar ataxias (SCAs) are progressive neurodegenerative disorders with diverse modes of inheritance. There are several subtypes of SCAs. SCA 8, SCA 12, and SCA 17 are the less common forms of SCAs with limited information available on their epidemiological profiles in Korea. The purpose of this study was to investigate the prevalence of SCA8, SCA12, and SCA17 in Korea. Materials and Methods: Ninety-six unrelated Korean patients were enrolled and showed normal trinucleotide repeats through polymerase-chain reaction (PCR) for the genes ATXN1, ATXN2, ATXN3, CACNA1A, and ATXN7, which correspond to SCA1, SCA2, SCA3, SCA6, and SCA7, respectively. PCR products from patients were further analyzed by capillary electrophoresis using fluorescence labeled primers for the genes ATXN8OS, PPP2R2B, and TBP, which correspond to SCA8, SCA12, and SCA17. Results: Three patients had 104, 97, and 75 abnormal expanded repeats in the ATXN8OS gene, the causative gene for SCA8. None of the patients exhibited abnormal repeats in SCA12 and SCA17. Normal trinucleotide repeat ranges of the cohort in this study were estimated to be 17-34 copies (average, $24{\pm}4copies$) for SCA8, 7-18 copies (average, $13{\pm}3copies$) for SCA12, and 26-43 copies (average, $35{\pm}2copies$) for SCA17. Conclusion: This study demonstrated that SCA8, SCA12, and SCA17 are rare in Korean patients with SCA, and further genetic studies are warranted to enhance the mutation detection rate in the Korean SCA population.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제24권3호
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• pp.288-294
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• 2021

Purpose: Despite aggressive medical and nutritional management, patients with methylmalonic acidemia (MMA) often suffer from multi-organ damage. Early deceased donor liver transplantation (DDLT) has emerged as an intervention to prevent disease progression. We investigated the efficacy of living donor LT (LDLT) with a potential carrier of MMA and a small volume of graft in patients with MMA as an alternative to DDLT. Methods: Of five patients (three male, two female; median age 5.7 years; range, 1.3-13.7 years), four underwent carrier LDLT, while one underwent non-carrier auxiliary LDLT. All patients received pre- and post-LT continuous renal replacement therapy and were provided with minimal restriction diet according to serum MMA level after LT. MMA levels in the serum and urine, the incidence of metabolic crisis, and clinical findings before and after LT were compared. Results: The survival rate was 100% during 2.2 years of follow up period after LT. In all five cases, MMA titer in the serum after transplantation decreased with less restrictive diet. Metabolic crisis was not observed during the follow-up period. In addition, no patient showed progression of severe renal impairment requiring hemodialysis. Progression of delayed cognitive development was not observed. Social functioning with improved neuropsychiatric development was observed. Conclusion: This study showed that LDLT achieved improved quality of life with less restrictive diet, therefore it could be a feasible alternative option to DDLT for the treatment of patients with MMA, even with an auxiliary LT.

• 부모자녀건강학회지
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• 제12권2호
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• pp.177-187
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• 2009

Purpose: Mothers are primary care taker for hospitalized children and they have an important role for the management of children's pain. This study was purposed to provide basic data needed in constructing the educational contents about pain management for the hospitalized children. Method: The research subjects were 165 mothers of children hospitalized at a general hospital in Busan. The questionnaire were composed of knowledge of, using attitude toward and education demand on analgesics. The data were collected from August 1 to September 30, 2009. Data were analyzed by SPSS 17.0 program. Results: The overall mean score of correct answers on knowledge about analgesics was 26.9% and using attitude toward analgesics was $25.55{\pm}4.03$. And demand of education was $3.98{\pm}0.66$. Conclusions: The level of mothers' knowledge about analgesics was very low and using attitude toward analgesics was passive. The hospitalized children's mothers need more knowledge and liberalness attitude toward analgesics. And various and sufficient educational program about analgesics and pain management for hospitalized children's mothers can be contribute to improve the quality of life of them.

• Childhood Kidney Diseases
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• 제27권1호
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• pp.26-33
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• 2023

Purpose: Hematuria and proteinuria have various causes and consequential outcomes in children. Immunosuppressants are needed in some children with biopsy-proven glomerulonephropathy but have many adverse effects. Since the clinical practice patterns of Korean pediatric nephrologists are diverse, we surveyed their opinions. Methods: Using a clinical vignette, the survey was emailed to all Korean Society of Pediatric Nephrology members. The questionnaires included diagnosis, examination, medications, and dietary recommendations for patients with hematuria and proteinuria. Results: A total of 32 clinicians (5.48%, 22 pediatric certificated nephrologists) responded to the survey. Most responders (87.5%) suspected immunoglobulin A nephropathy, and 68.8% replied that kidney biopsies were a diagnostic tool. Renin-angiotensin system inhibition (62.5%) or steroids (18.8%) were selected as the treatment. Salt and protein intakes were usually encouraged as dietary reference intakes (34.4% and 65.6%, respectively). Conclusions: Children with abnormal urinalysis have various causes, treatments, and prognoses. As treatments such as immunosuppressants can have many adverse effects, it is necessary to confirm an accurate diagnosis and indications of treatments before starting the treatment. Recommendations for a diet should not hinder growth.

• 대한감각통합치료학회지
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• 제3권1호
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• pp.49-56
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• 2005

Objective : The purpose of this study was to indicate the foundational data to standardize MVPT-R for Koreans. Method : This study was conducted on 221 children ranging in all preschool age from 4 to 6 years residing in Busan and Kyungsangnam-do. It was performed from January 12, 2004 to April 30, 2004. Result : First, similar to American children, as Korean children grow older, the mean raw score of MVPT-R increased. Second, Korean children's mean raw score was higher than that of American children; 3.51 in 4 age, 1.52 in 4.6 age, 2.93 in 5 age, 1.72 in 5.6 age, 1.84 in 6 age and 0.48 in 6.6 age. Third, the mean of PQ(106.57) in Korean children was higher than that of PQ in American children. Fourth, The raw score in Korean children was higher than the raw score in American children in most of the subjects(excluding visual closure subjects). Conclusion : The visual perception skill of Korean children is higher than that of American children. If we apply MVPT-R developed in U.S to Korean children, it will be difficult for Korean children to achieve the adequate results. Therefore, we must use the standardized MVPT-R for Korean that can minimize the differences between American and Korean children's visual perception skills.

• Clinical and Experimental Pediatrics
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• 제61권3호
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• pp.90-94
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• 2018

Purpose: The present study aimed to determine the relationship between serum 25-hydroxyvitamin D (25(OH)D) level and Urinary tract infections (UTIs) in children. Methods: In this case-control study, 70 children with UTI (case group) were compared with 70 healthy children (control group) in terms of serum 25(OH)D levels. The children were between 1 month and 12 years of age. Serum 25(OH)D levels were measured using enzyme-linked immunosorbent assay (ELISA). The results were analyzed and compared between both groups. Results: Among 70 children with UTI (case group), 5 children (7.2%) were male and 65 (92.8%) were female. Among the healthy children (control group), 9 (12.8%) and 61 children (87.2%) were male and female, respectively (P=0.39). The $mean{\pm}standard$ deviation of age in the case and control groups were $53.2{\pm}35.6$ and $36.1{\pm}60.2months$, respectively (P=0.24). The mean level of serum 25(OH)D in the case group was significantly higher than that of the control group ($20.4{\pm}8.6ng/mL$ vs. $16.9{\pm}7.4ng/mL$, P=0.01) Conclusion: This study showed that there was a relationship between serum 25(OH)D levels and UTI in children. It seems that 25(OH)D plays a role in the pathogenesis of UTI.

• Pediatric Infection and Vaccine
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• 제29권2호
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• pp.61-69
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• 2022

Coronavirus disease 2019 (COVID-19) has been a global pandemic for over 2 years. During the Omicron (B.1.1.529) variant-predominant period in South Korea, confirmed cases among children and adolescents surged. This review found that, although younger children may be less susceptible to COVID-19 than adolescents, more research is needed on the role of children and adolescents in the disease's spread. Detailed epidemiological information about the transmissibility of the novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) strain in children and adolescents is currently scarce, and more research is needed on the role of children and adolescents in disease's spread. There may be a difference in the proportion of cases with severe disease requiring hospitalization depending on the dominant mutant strain; however, COVID-19 generally presents with a mild-to-moderate course in children aged 5-11 years old.

• Clinical and Experimental Pediatrics
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• 제58권2호
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• pp.64-68
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• 2015

Purpose: The purpose of this study was to investigate the importance of initial screening tests for depression and anxiety disorders in children with headache. In addition, this study evaluated whether the Children's Depression Inventory (CDI) and Revised Children's Manifest Anxiety Scale (RCMAS) are suitable for screening symptoms of depression and anxiety. Methods: A retrospective chart review was conducted of 720 children aged 7-17 years who had visited a pediatric neurology clinic for headaches and were referred to a pediatric psychiatric clinic for psychiatric symptoms from January 2010 to December 2011. All patients completed the CDI and RCMAS. Among them, charts of patients with clinically significant total scores (cutoff>15) for psychiatric symptoms, as defined by the CDI and RCMAS scoring scales, were reviewed. Results: Nineteen patients had headaches and clinically significant total scores for psychiatric symptoms. The mean age at headache diagnosis was 11.7 years, and 57% were male. Mean duration of headache was 11.5 months. Two point eight percent of the patients were diagnosed with psychiatric disorders including major depression (1.7%), generalized anxiety disorder (1.1%), and bipolar disorder (0.1%). Four patients (0.6%) were diagnosed with attention deficit/hyperactivity disorder (ADHD). Total mean CDI and RCMAS scores of patients referred to the psychiatric clinic were 18.8 and 22.2, respectively. There was no correlation between CDI or RCMAS total scores and headache frequency, duration, or severity. Conclusion: We recommend that all patients with headache should be screened for depression and anxiety by CDI and RCMAS scores.

• 대한불안의학회지
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• 제9권1호
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• pp.19-24
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• 2013

Objectives: The objective of this study is to examine the association between the children's psychopathology and age, intellectual quotient, and parental psychopathology in children with post-traumatic stress disorder (PTSD). Methods: The emotional and behavioral problems of 35 children with PTSD (23 boys, 12 girls, mean age, $10.26{\pm}2.47$ years) were investigated by retrospective chart review. Their parents' anxiety and depression symptoms were also investigated. We examined the correlations between children's psychopathology and their parents' anxiety and depression symptoms, as well as their age and IQ. Results: There were positive correlations between maternal trait anxiety and depression, and children's emotional problems. State and trait anxiety of children with PTSD were positively correlated with age, and attention-deficit hyperactivity disorder symptoms were negatively correlated with age. Conclusion: Our results suggest that psychiatric manifestation of children who experienced trauma could differ according to the development stage, and the treatment of children with PTSD should involve parental education about the effect of maternal emotional states on children.