• BMB Reports
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• 제39권4호
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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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• 제54권1호
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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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• 제25권1호
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• pp.45-49
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• 2018

B군 사슬알균은 3개월 미만 영아에서 발생하는 침습성 감염증의 주요한 원인균이다. 신생아 침습성 B군 사슬알균 수막염에 의한 뇌혈관 합병증은 드물게 보고되고 있다. 발열을 주소로 내원한 생후 29일 신생아에서 세균성 수막염이 진단되었다. 입원 3일째 경련이 발생하였고 뇌 자기공명영상에서 다발성의 광범위한 대뇌피질(양측 전두엽, 측두엽 및 후두엽)과 뇌량 및 좌측 후두엽에서 급성 뇌경색증 합병된 소견을 보였다. 환아의 혈액과 뇌척수액에서 B군 사슬알균이 분리되었고 serotype III, ST-19으로 확인되었다. 현재 환아는 피질맹과 발달 지연을 보이고 있다.

• Clinical and Experimental Pediatrics
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• 제57권12호
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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.

• 생물정신의학
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• 제19권1호
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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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• 제46권2호
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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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• 제62권2호
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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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• 제23권1호
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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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• 제53권4호
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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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• 제49권6호
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• pp.623-629
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• 2006

목 적 : 신생아 의료의 발전으로 신생아 사망률은 감소하였으나 여러 가지 침습적 시술의 증가로 신생아 패혈증의 발생은 줄어들지 않고 있으며, 아직도 신생아 이환과 사망의 상당한 비중을 차지하고 있다. 전남대학교병원 신생아중환자실에서 신생아 패혈증의 발생시기에 따른 흔한 원인균 및 항생제 감수성 결과를 분석하여 가장 적절한 항생제 선택의 지침을 정하고자 하였다. 방 법 : 2000년 1월 1일부터 2004년 12월 31일까지 전남대학교병원 신생아중환자실에 입원한 환아 중 혈액배양 검사에서 1회(피부 상재균인 경우 2회) 이상 동정된 경우는 89명이었다. 이 중 74명은 패혈증에서 회복된 후 재발하지 않았으며(74례), 12명은 임상증상 재출현과 함께 혈액배양 검사상 균이 1회 더 동정되었고(24례), 3명은 2회 더 동정되어(9례) 총 107례에 대한 입원기록지를 후향적으로 조사하였다. 재태연령, 출생체중, 성별, 주산기 위험인자와 임상증상, 원인균 및 항생제 감수성, 사망률 등을 조사하였다. 결 과 : 신생아 패혈증의 발생빈도는 1.7%였으며, 30주 미만, 출생체중 1,500 g 미만에서 빈발하였다(P<0.05). 조발형의 거의 대부분(92.9%) gram-양성균이 원인이었으나, 지발형에서는 약 2/3(67.4%)가 gram-양성균이고 나머지 1/3은 gram-음성균(20.0%)과 칸디다(12.6%)가 차지하였다. Gram-음성균과 칸디다 감염은 중심정맥 카테테르가 있는 경우에서 많았다. 항생제 감수성 검사상 gram-양성균은 vancomycin, teicoplanin, chloramphenicol 순이었고, gram-음성균은 ciprofloxacin, imipenem, cefotaxime, ceftazidime 순이었다. 결 론 : 신생아 패혈증은 저출생체중 미숙아에서 흔하고, coagulase-negative staphylococci, Candida, S. aureus가 가장 흔한 원인균이었다. 항생제 감수성 검사상 1차 항생제 선택에 조발형은 3세대 cephalosporin 계열과 clindamycin, 지발형은 3세대 cephalosporin 계열과 glycopeptide 계열의 병용이 추천되며, 지발형에서 충분한 항생제 치료에도 반응이 없다면 칸디다 패혈증을 의심하고 예방적 항진균제 사용이 필요할 것으로 사료되었다.