• BMB Reports
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• v.39 no.4
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• pp.400-405
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• 2006

A 16-month old boy was referred to our hospital for evaluation of recurrent generalized tonic clonic seizures. Metabolic evaluation revealed significant hyperammonemia ($1,112\;{\mu}g/dl$). Amino acid/acylcarnitine screening using tandem mass spectrometry showed markedly increased plasma levels of citrulline ($1,350\;{\mu}M/l$) with undetectable levels of arginine and arginosuccinic acid. Urinary excretion of citrulline was markedly increased ($38,617\;{\mu}M/g$ creatinine). Brain MRI findings showed diffuse high-signal intensity lesions, that involved gray and white matter in both frontal lobes and insula with edematous changes; these findings were consistent with the acute stage of citrullinemia (CTLN). Mutation analysis of the argininosuccinate synthetase (ASS) gene, in this patient, showed a Gly324Ser mutation in exon 13, and a 67-bp duplication mutation in exon 15 (c.1128-6_1188dup67). The patient was confirmed as having late-onset CTLN1 and treated with anticonvulsants, lactulose enema, protein restricted diet and arginine. Here we describe a case of late-onset CTLN1 in a patient by biochemical analyses and ASS gene mutation confirmation. This is the first report of a Korean patient with late-onset CTLN1 confirmed by ASS gene mutation identification.

• Clinical and Experimental Pediatrics
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• v.54 no.1
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• pp.22-28
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• 2011

Purpose: To investigate the clinical characteristics of late-onset epilepsy combined with autism spectrum disorder (ASD), and the relationship between certain types of electroencephalography (EEG) abnormalities in ASD and associated neuropsychological problems. Methods: Thirty patients diagnosed with ASD in early childhood and later developed clinical seizures were reviewed retrospectively. First, the clinical characteristics, language and behavioral regression, and EEG findings of these late-onset epilepsy patients with ASD were investigated. The patients were then classified into 2 groups according to the severity of the EEG abnormalities in the background rhythm and paroxysmal discharges. In the severe group, EEG showed persistent asymmetry, slow and disorganized background rhythms, and continuous sharp and slow waves during slow sleep (CSWS). Results: Between the two groups, there was no statistically significant difference in mean age (P=0.259), age of epilepsy diagnosis (P=0.237), associated family history (P=0.074), and positive abnormal magnetic resonance image (MRI) findings (P=0.084). The severe EEG group tended to have more neuropsychological problems (P=0.074). The severe group statistically showed more electrographic seizures in EEG (P=0.000). Rett syndrome was correlated with more severe EEG abnormalities (P=0.002). Although formal cognitive function tests were not performed, the parents reported an improvement in neuropsychological function on the follow up checkup according to a parent's questionnaire. Conclusion: Although some ASD patients with late-onset epilepsy showed severe EEG abnormalities, including CSWS, they generally showed an improvement in EEG and clinical symptoms in the longterm follow up. In addition, severe EEG abnormalities tended to be related to the neuropsychological function.

• Pediatric Infection and Vaccine
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• v.25 no.1
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• pp.45-49
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• 2018

Group B streptococcus (GBS) is the leading cause of neonatal morbidity and mortality. Late-onset GBS disease commonly manifests as occult bacteremia or meningitis. Approximately 50% of survivors of late-onset meningitis have long-term neurologic sequelae. Cerebrovascular complications are often associated with unfavorable clinical outcomes of GBS meningitis. There have been a few reports of cerebral infarction accompanied by GBS meningitis. We report a 29-day-old girl with severe, widespread cerebral infarction due to late-onset GBS meningitis. Isolated GBS strain from this patient was serotype III, ST-19. Currently, she has cortical blindness and significant developmental delay.

• Clinical and Experimental Pediatrics
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• v.57 no.12
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• pp.514-519
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• 2014

Hemorrhagic cystitis is a common stem cell transplantation-related complication. The incidence of early-onset hemorrhagic cystitis, which is related to the pretransplant conditioning regimen, has decreased with the concomitant use of mesna and hyperhydration. However, late-onset hemorrhagic cystitis, which is usually caused by the BK virus, continues to develop. Although the BK virus is the most common pathogenic microorganism of poststem cell transplantation late-onset hemorrhagic cystitis, pediatricians outside the hemato-oncology and nephrology specialties tend to be unfamiliar with hemorrhagic cystitis and the BK virus. Moreover, no standard guidelines for the early diagnosis and treatment of BK virus-associated hemorrhagic cystitis after stem cell transplantation have been established. Here, we briefly introduce poststem cell transplantation BK virus-associated hemorrhagic cystitis.

• Korean Journal of Biological Psychiatry
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• v.19 no.1
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• pp.65-69
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• 2012

Objectives : Much is still unknown about the neurophysiological mechanisms or dynamics of the sleep onset process. Detrended fluctuation analysis (DFA) is a new tool for the analysis of electroencephalography (EEG) that may give us additional information about electrophysiological changes. The purpose of this study is to analyze long-range correlations of electroencephalographic signals by DFA and their changes in the sleep onset process. Methods : Thirty channel EEG was recorded in 61 healthy subjects (male:female=34:27, age=$27.2{\pm}3.0$ years). The scaling exponents, alpha, were calculated by DFA and compared between four kinds of 30s sleep-wakefulness states such as wakefulness, transition period, early sleep, and late sleep (stage 1). These four states were selected by the distribution of alpha and theta waves in O1 and O2 electrodes. Results : The scaling exponents, alpha, were significantly different in the four states during sleep onset periods, and also varied with the thirty leads. The interaction between the sleep states and the leads was significant. The means (${\pm}$ standard deviation) of alphas for the states were 0.94 (${\pm}0.12$), 0.98 (${\pm}0.12$), 1.10 (${\pm}0.10$), 1.07 (${\pm}0.07$) in the wakefulness, transitional period, early sleep and late sleep state respectively. The mean alpha of anterior fifteen leads was greater than that of posterior fifteen leads, and the two regions showed the different pattern of changes of the alpha during the sleep onset periods. Conclusions : The characteristic findings in the sleep onset period were the increasing pattern of scaling exponent of DFA, and the pattern was slightly but significantly different between fronto-temporal and parieto-occipital regions. It suggests that the long-range correlations of EEG have a tendency of increasing from wakefulness to early sleep, but anterior and posterior brain regions have different dynamical process. DFA, one of the nonlinear analytical methods for time series, may be a useful tool for the investigation of the sleep onset period.

• Journal of Korean Neurosurgical Society
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• v.46 no.2
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• pp.93-98
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• 2009

Objective: Although prophylactic antiepileptic drug (AED) use in patients with aneurysmal subarachnoid hemorrhage (SAH) is a common practice, lack of uniform definitions and guidelines for seizures and AEDs rendered this prescription more habitual instead of evidence-based manner. We herein evaluated the incidence and predictive factors of seizure and complications about AED use. Methods: From July 1999 to June 2007, data of a total of 547 patients with aneurysmal SAH who underwent operative treatments were reviewed. For these, the incidence and risk factors of seizures and epilepsy were assessed, in addition to complications of AEDs. Results: Eighty-three patients (15.2%) had at least one seizure following SAH. Forty-three patients (79%) had onset seizures, 34 (6.2%) had perioperative seizures, and 17 (3.1%) had late epilepsy. Younger age (< 40 years), poor clinical grade, thick hemorrhage, acute hydrocephalus, and rebleeding were related to the occurrence of onset seizures. Cortical infarction and thick hemorrhage were independent risk factors for the occurrence of late epilepsy. Onset seizures were not predictive of late epilepsy. Moreover, adverse drug effects were identified in 128 patients (23.4%) with AEDs. Conclusion: Perioperative seizures are not significant predictors for late epilepsy. Instead, initial amount of SAH and surgery-induced cortical damage should be seriously considered as risk factors for late epilepsy. Because AEDs can not prevent early postoperative seizures (< 1 week) and potentially cause unexpected side effects, long-term use should be readjusted in high-risk patients.

• Clinical and Experimental Pediatrics
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• v.62 no.2
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• pp.55-61
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• 2019

Purpose: Myotonic dystrophy, also known as dystrophia myotonica (DM), is an autosomal dominant disorder with 2 genetically distinct forms. DM type 1 (DM1) is the more common form and is caused by abnormal expansion of cytosine/thymine/guanine (CTG) repeats in the DM protein kinase (DMPK ) gene. Our study aimed to determine whether the age of onset is correlated with CTG repeat length in a population of pediatric patients with DM1. Methods: We retrospectively identified 30 pediatric patients with DM1 that underwent DMPK testing, of which the clinical data of 17 was sufficient. The cohort was divided into 2 subgroups based on the clinical phenotype (congenital-onset vs. late-onset) and number of CTG repeats (<1,000 vs. ${\geq}1,000$). Results: We found no significant difference between the age of onset and CTG repeat length in our pediatric patient population. Based on clinical subgrouping, we found that the congenital-onset subgroup was statistically different with respect to several variables, including prematurity, rate of admission to neonatal intensive care unit, need for respiratory support at birth, hypotonia, dysphagia, ventilator dependence, and functional status on last visit, compared to the late-onset subgroup. Based on genetic subgrouping, we found a single variable (poor feeding in neonate) that was significantly different in the large CTG subgroup than that in the small CTG subgroup. Conclusion: Clinical variables exhibiting statistically significant differences between the subgroups should be focused on prognosis and designing tailored management approaches for the patients; our findings will contribute to achieve this important goal for treating patients with DM1.

• Journal of Dental Anesthesia and Pain Medicine
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• v.23 no.1
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• pp.29-37
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• 2023

Background: A high incidence (40-73%) of postoperative nausea and vomiting (PONV) has been reported following orthognathic surgery, and various risk factors have been associated with it. Identifying PONV risk factors based on initial onset time will help establish preventive measures. This study aimed to identify factors that are significantly related to PONV based on the initial onset time after orthognathic surgery. Methods: This study included 590 patients who underwent orthognathic surgery. Multivariate logistic regression analysis was performed to identify the risk factors that are significantly related to PONV. The objective variables were classified into three categories: no PONV, early PONV (initial onset time: 0-2 h after anesthesia), and late PONV (initial onset time: 2-24 h after anesthesia). The explanatory variables included relevant risk factors for PONV, as considered in previous studies. Results: Total intravenous anesthesia with propofol was a significant depressant factor for early PONV (adjusted odds ratio [aOR] = 0.340, 95% confidence interval [CI] = 0.209-0.555) and late PONV (aOR = 0.535, 95% CI = 0.352-0.814). The administration of a combination of intraoperative antiemetics (vs. no administration) significantly reduced the risk of early PONV (aOR = 0.464, 95% CI = 0.230-0.961). Female sex and young age were significant risk factors for late PONV (aOR = 1.492, 95% CI = 1.170-1.925 and unit aOR = 1.033, 95% CI = 1.010-1.057, respectively). Conclusion: We identified factors that are significantly related to PONV based on the initial onset time after orthognathic surgery. Total intravenous anesthesia with propofol significantly reduced the risk of PONV not only in the early period (0-2 h after anesthesia) but also in the late period (2-24 h after anesthesia).

• Clinical and Experimental Pediatrics
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• v.53 no.4
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• pp.477-480
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• 2010

Advances in research and medical and supportive care have contributed to a growing population of adults formerly treated for childhood cancer. History of cancer and its therapy can have significant life-long health implications. Late effects of cancer therapy can be insidious on onset, occur outside the pediatric age, and contribute to premature morbidity and mortality. In this review, I have focused on the key long-term effects of pediatric cancer therapy, particularly on the metabolic syndrome, including cardiopulmonary complications, infertility, and secondary neoplasm.

• Clinical and Experimental Pediatrics
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• v.49 no.6
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• pp.623-629
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• 2006

Purpose : The mortality rate of neonatal sepsis has been decreased, however, the incidence has not significantly decreased because of increased invasive procedures. This study was designed to make guidelines for choosing antibiotics by analyzing the causative microorganisms and their antibiotics sensitivity test according to the onset of neonatal sepsis. Methods : One hundred seven cases of culture proven sepsis in 89 patients admitted to the NICU of Chonnam University Hospital from Jan. 2000 to Dec. 2004, were enrolled. By reviewing the medical records, clinical data, laboratory findings, causative organisms and their antibiotics sensitivity, and mortality were analyzed. Results : The incidence of neonatal sepsis was 1.7 percent and more prevalent in premature and low birth weight infants. 85.4 percent of neonatal sepsis was late onset. Almost all microorganisms(92.9 percent) were gram-positive in early onset, however, two thirds were gram-positive and one third were gram-negative and Candida in late onset. Gram-negative organisms and Candida were more prevalent in patients who had central line. Gram-positive organisms were sensitive to vancomycin, teicoplanin, and gram-negative were sensitive to imipenem, and cefotaxime. Conclusion : Neonatal sepsis was more prevalent in premature and low birth weight infants. More than 90 percent were gram-positive in early onset, however, one third was gram-negative and Candida in late onset. The first choice of antibiotics were a combination of third generation cephalosporin and clindamycin in early onset, and third generation cephalosporin and glycopeptide in late onset. If there is no response to antibiotics treatment, the use of antifungal agents should be considered.