• 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.

• Journal of Ginseng Research
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• 제18권3호
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• pp.165-174
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• 1994

To investigate the significant indicators Improving the undisturbed memory in animal behavior, we employed several behavioral methods (learning, relearning in radial maze, and active avoidance) with ginseng components. Results showed that the repeated intranasal administration of $Rb_1$ and total saponins from Korean red ginseng induced direct effects on the brain mechanisms in rats, and improved the spatial memory during the learning, relearning and retention in the 12-arm radial maze test. The intranasal treatment of the total saponins also effectively improved the disturbed memory (amnesia) by pentylentetrazole, and simultaneously protected the brain by decreasing the severity of motor epileptic seizures. The intraperitonial administration of polysaccharide fraction of Korean red ginseng could improve avoidance behavior (amount of the total ecapes) in the active-avoidance test. In addition, local changes of the temperature and resistance of skin observed after Rb, administration were suggested to reflect some action of sympathetic nerve Key words Memory, intranasal administration, pentylenetetrazole, Korea red ginseng.

• 대한유전성대사질환학회지
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• 제22권1호
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• pp.15-20
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• 2022

The most common urea cycle disorder is ornithine transcarbamylase deficiency. More than 80 percent of patients with symptomatic ornithine transcarbamylase deficiency are late-onset, which can present various phenotypes from infancy to adulthood. With no regards to the severity of the disease, characteristic fluctuating courses due to hyperammonemia may develop unexpectedly, and can be precipitated by various metabolic stressors. Late-onset ornithine transcarbamylase deficiency is not merely related to a type of genetic variation, but also to the complex relationship between genetic and environmental factors that result in hyperammonemia; therefore, it is difficult to predict the prevalence of neurological symptoms in late-onset ornithine transcarbamylase deficiency. Most common acute neurological manifestations include psychological changes, seizures, cerebral edema, and death; subacute neurological manifestations include developmental delays, learning disabilities, intellectual disabilities, attention-deficit/hyperactivity disorder, executive function deficits, and emotional and behavioral problems. This review aims to increase awareness of late-onset ornithine transcarbamylase deficiency, allowing for an efficient use of biochemical and genetic tests available for diagnosis, ultimately leading to earlier treatment of patients.

• Clinical and Experimental Pediatrics
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• 제50권7호
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• pp.672-677
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• 2007

목 적 : 두통과 간질은 소아기에 흔한 질환이다. 두통 환자에서 간질의 발생이 높고, 간질 환자에서 두통 발생이 높다. 소아 간질 환자에서 동반된 두통과 간질 발작과 동반되는 두통에 대한 보고는 드물다. 실제 임상에서 간질 환자와 의사들은 간질의 치료에 관심을 갖고 있기 때문에, 간질에 동반된 두통의 평가와 치료를 적절히 하지 못하고 있는 실정이다. 이에 저자는 소아청소년 간질 환자에 동반된 두통과 편두통의 빈도, 임상적인 특징과 치료에 대해서 알아보고자 하였다. 방 법 : 조선대학교병원 소아과 간질 클리닉의 초진과 재진 간질 환자 229명(남녀 비 1.1:1.0)을 대상으로 전향적으로 연구 하였다. 평균 나이는 $10.0{\pm}4.1$세(나이 범위 4-17세)이었다. 간질 환자 중 두통 환자는 86명(남녀 비 1.05:1.0)이었고, 평균 나이는 $10.7{\pm}3.6$세이었다. 두통 환자 중 편두통 환자는 64명(남녀 비 1.0:1.0)이었고, 평균 나이는 $10.6{\pm}3.7$세이었다. 대상 환자 모두에게 질문지를 배포하여 환자와 보호자가 상의하여 답하게 하였고, 질문지를 통하여 간질에 동반된 두통과 간질 발작시 두통에 대하여 자세히 조사하였으며, 두통의 심한 정도의 평가는 VAS (visual analogue scale; 0-10; 0, 통증 없음, 10, 가장 심한 통증)를 사용하였다. 두통에 의한 장애는 PedMIDAS를 사용하여 평가하였다. 두통의 분류는 2004년에 개정된 국제 두통 질환분류를 이용하였다. 간질의 분류는 1981년 항간질연맹(ILAE)에서 발표한 분류법을 사용하였다. 결 과 : 소아 간질 환자에서 동반된 두통은 229명 중 86명(37.6%)이었고, 편두통은 64명(27.9%)이었다. 두통의 유형은 편두통이 74.4%로 가장 흔하였으며, 전조 편두통이 48.8%로 가장 높았다. 두통 환자의 한 달 평균 빈도는 $7.2{\pm}8.4$이었고, 평균 지속 시간 $2.2{\pm}4.0$, 평균 심한 정도(VAS) $5.2{\pm}2.2$이었으며, 두통에 의한 장애는 평균 PedMIDAS $13.0{\pm}35.4$이었다. 간질에 동반된 두통은 부분발작의 69.8%(복잡 부분 발작 51.2%, 단순 부분 발작 18.6%)이었고, 전신발작의 30.2%로 두통의 동반은 부분 발작에서 통계학적으로 의미 있게 높았으며(P=0.025), 특히 복합 부분 발작에서 통계학적으로 의미 있게 높았다(P=0.007). 간질에 동반된 편두통은 부분 발작, 특히 복잡 부분 발작에서 높았으나 통계학적인 의미는 없었다. 편두통과 동반된 발작 후 두통은 18.8%이었으며, 발작 전 두통은 17.2%, 발작 중 두통 7.8 %이었다. 간질과 동반된 두통의 치료는 처방전을 받아서 치료하고 있는 경우는 8.1%로 매우 적었으며, 처방전 없이 진통제를 복용하는 경우 59.3%, 약물을 복용하지 않는 경우도 22.1%이었다. 간질과 동반된 두통 환자 중 간질 진단 후에 두통이 발생하는 경우는 66.3%이었고, 초진 환자인 경우보다 재진인 경우에 두통 발생이 더 높았고, 초진인 경우 여자에서 더 높았다. 두통 발생 후에 간질 발작이 있는 경우는 33.7%이었고, 초진 환자인 경우에 재진인 경우보다 두통 발생이 더 높았고, 초진인 경우 남자에서 두통 발생 후 간질 발작이 많았다. 결 론 : 간질에 동반된 두통의 유병률은 일반 소아에서의 두통의 유병률보다 높고, 이 중에서 편두통이 가장 많았다. 이것은 피질의 과흥분이 피질의 확산 억제를 증가시킨다는 점으로 설명되어진다. 간질 환자에 동반된 두통은 간질의 예후에 나쁜 영향을 주기 때문에 임상의들은 간질을 진단하고 치료할 때 두통을 염두에 두고 간질 발작 동안이나 간질 간기의 두통에 대한 질문과 적절한 치료를 하여야 한다. 더 나아가 항경련제 반응으로 각각의 약물에 따른 두통의 빈도, 심한 정도와 지속 시간의 효과를 알아보고자 한다.

• Korean Journal of Acupuncture
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• 제24권4호
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• pp.99-110
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• 2007

Objectives : Epilepsy is one of the most common serious brain disorders that affect people of all ages, and it is characterized by recurrent unprovoked seizures. We examined whether acupuncture can reduce both the incidence of seizures and hippocampal cell death in dentate gyrus (DG) using a mouse model of kainic acid (KA)-induced epilepsy. Methods : ICR mice ($20{\sim}25$ g) were given acupuncture once a day at acupoint HT8 (sobu) bilaterally during 2 days before KA injection. After an intracerebroventricular injection of 0.1${\mu}g$ of KA, acupuncture treatment was subsequently administered once more (total 3 times), and the degree of seizure was observed for 20 min. Three hours after injection, we confirmed the neural cell death using cresyl violet staining and silver impregnation staining, and determined the expressions of c-Fos and glutamate decarboxylase (GAD)-67 using immunohistochemistry techniques in the DG. Results : KA induced epileptic seizure, neural cell death, increased c-Fos expression and decreased GAD-67 expression in the DG. Acupuncture treatment at HT8 reduced the severity of the epileptic seizure and inhibited neural cell death from KA. In addition, acupuncture normalized the expressions of c-Fos and GAD-67 in the same areas. Conclusions : These results demonstrated that acupuncture treatment at HT8 may reduce the KA-induced epileptic seizure and neural cell death in the DG possibly by normalizing c-Fos expressions and the gamma-aminobutyric acid neurons.

• BMB Reports
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• 제32권4호
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• pp.339-344
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• 1999

We studied the effects of ginsenosides in immature rats based upon the previous results that ginseng has a suppressive or anticonvulsive activity. To examine the suppressive effect of ginsenosides on kainic acid-induced seizures, the severities and frequencies were observed for 4 h after injection of kainic acid (KA; i.p., 2 mg/kg b.w.) using 10-day-old male Sprague-Dawley rats ($22{\pm}2\;g$). Protopanaxadiol saponins such as ginsenoside-Rb1 (Rb1), ginsenoside-Rb2 (Rb2), ginsenoside-Rc (Rc), and ginsenoside-Rd(Rd) generally reduced the seizure activities while protopanaxatriol saponins such as ginsenoside-Rg1 (Rg1) and ginsenoside-Re (Re) rather increased stereotypic "paddling-like" movements. When vinyl-GABA (v-G) was injected together with Rb1 or Rc, KA-induced seizure severities were additionally reduced only by the injection of Rc, but not by Rb1. The level of gamma isozyme of protein kinase C (PKC-${\gamma}$) in the hippocampus increased about three times as much as that of normal rats at 4 h after KA injection. The increased level of PCK-${\gamma}$ by KA was significantly reduced to about 35% by the coinjection with v-G alone, but it was not changed by v-G together with Rb1 or Rc. The increased level of PKC-${\gamma}$ at 4 h after injection of KA was not consistent with the reduction of seizure severities between Rb1 and Rc. These results suggest that Rc and Rb1 may reduce seizure severity independent of PKC-${\gamma}$ levels, and Rc may additionally act with v-G regarding the GABA metabolism during the stage of KA-induced seizures in the immature rats.

• Clinical and Experimental Pediatrics
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• 제51권3호
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• pp.286-292
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• 2008

목 적 : FDG-PET에서 발작기와 발작간기에 따라 뇌혈류량에 따른 대사의 변화는 다양하게 나타날 수 있다. 이에 저자들은 뇌파를 통해 발작기와 발작간기를 구분하고 발작간기의 간질파와 비간질파가 포도당 대사에 어떤 영향을 미치는지를 분석하기 위해 PET과 동시에 뇌파를 시행하여 PET의 결과와 뇌파를 비교 분석하고자 한다. 방 법 : 우리는 소아 간질 환아 중에서 PET과 동시에 뇌파를 시행한 73명을 대상으로 임상적 발작 및 발작간기의 간질파와 비간질파의 빈도, 심각도 정도를 분류하여 PET의 결과와 비교 분석하였다. 그리고 수술을 시행한 환자에서 PET과 뇌파 결과의 일치 유무에 따른 조직병리의 연관성에 대해서도 분석하였다. 결 과 : 간질파의 빈도는 없음/드뭄, 간헐성, 빈발성 그룹으로 분류하였으며 PET의 포도당 대사 증가 또는 감소의 병변과의 일치율은 각각 없음/드뭄은 0%, 간헐성은 42.9%, 빈발성은 67.9 % 이었다(P<0.05, r=0.491). 비간질파의 심한 정도는 없음, 드뭄, 중등도, 지속성 그룹으로 분류하였으며 PET 결과와의 일치율은 13.3%, 52.0%, 64.7%, 68.8%로 각 변수들의 빈도 차이는 의미 있게 분석되었다(P<0.05, r=0.365). FDG 추적자가 흡수되는 동안 임상적 발작이 있었던 환아는 3명 이었으며 모두 발작기의 PET 영상소견인 대사 증가소견을 보였다. 무증상의 발작이 있었던 2명의 환아 중 1명은 간질 발작기와 발작간기의 대사가 혼합되는 소견을 보였다. 수술을 시행한 환아는 10명으로 6명은 PET 결과와 뇌파의 병변이 일치하였으며 6명 중에서 4명은 비디오 뇌파, 뇌 자기공명영상과도 일치 소견을 보였다. 이들 모두 수술 후 발작은 멈추었으며 조직검사상 뇌피질 이형성증 소견 또는 미세반응 소견을 보였다. 결 론 : PET과 동시에 뇌파를 시행함으로써 발작기의 경우 무증상의 경련, 임상적 경련을 명확히 구분할 수 있었으며 국소 서파의 심각도와 다극파나 높은 빈도의 극파 또는 예파를 정확히 파악하여 false lateralization의 판독을 최소화할 수 있었다.

• Journal of Interdisciplinary Genomics
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• 제3권1호
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• pp.21-24
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• 2021

Purpose: Activating mutations of the calcium-sensing receptor (CASR) are a rare genetic disorder, and result in autosomal dominant hypocalcemia with hypercalciuria (ADHH). ADHH exhibited varying degrees of hypocalcemia. In this study, we report the clinical and molecular characteristics of activating variants in CASR patients diagnosed in Korea. Methods: This study included three patients with activating variants of CASR confirmed by biochemical and molecular analysis of CASR. Clinical and biochemical findings were reviewed chart retrospectively. Mutation analysis of CASR was performed by Sanger sequencing. Results: Subject 1 showed severe symptoms from the neonatal period and had difficulty in controlling the medications that were administered. Subject 2 was identified as having a novel variant of CASR with hypocalcemia and a low parathyroid hormone that were found in the neonatal period. During a course without medication, hypocalcemia occurred suddenly around 2 years of age. Subject 3 was diagnosed with hypoparathyroidism with hypocalcemic seizures starting from the neonatal period. About 4 years without taking medication with any symptom. However, at 10 years old revisited by repetitive hypocalcemic seizure events. Subject 1 and 3, were heterozygous for c.2474A>T (p.Y825F), c.2395G>A (p.E799K) located in the transmembrane domain (TMD) of CASR. Subject 2 was heterozygous for c.403A>C (S430L) located in the extracellular domain (ECD) of CASR. Conclusion: We reported 3 patients who have activating CASR variant with different onset and severity of symptoms. In the future, further study is needed to determine how the protein level according to the location of the mutation of CASR affects the degree of symptoms.

• 동의생리병리학회지
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• 제28권6호
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• pp.614-620
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• 2014

Kainic acid (KA) is a excitatory agonist causing epileptic seizure and excitotoxicity in the hippocampus. Gastrodia Elata (GE) is known to have anti-convulsant and anti-oxidant effects. This study was investigated a possible role of GE in suppressing epileptic seizure using KA-induced epilepsy mouse model. Eight-week-old male C57BL/6 mice were administrated GE (50 or 500 mg/kg) once a day for 5 days, and then injected KA (30 mg/kg) intraperitoneally. Behavioral changes in mice by KA were evaluated for 90 minutes immediately after the KA administration. Six hours after the KA administration, their brains were harvested and the expressions of glutamate decarboxylase 67 (GAD-67) and K+-Cl- cotransporter 2 (KCC2) in the hippocampus of the mice were measured by immunohistochemistry.GE delayed the onset of epileptic seizure after KA administration, suppressed the severity of the seizure and decreased the number of severe seizures dose dependently. Moreover, GAD-67 and KCC2 expressions in the cornu ammonis (CA) 1 and CA3 of 500 mg/kg GE administrated mice were significantly increased compared to those in KA-treated mice.GAD-67 and KCC2 play an important role in regulating GABAergic system. Our results suggest that GE has anti-convulsant effect against KA-induced epileptic seizure through enhancing GABAergic system.

• 대한임상독성학회지
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• 제18권2호
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• pp.94-101
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• 2020

Purpose: This study examined the clinical and epidemiological characteristics of intensive care unit (ICU) patients admitted or died in the emergency medical center with acute-poisoning to investigate the variables related to the prognosis. Methods: The data were collected from poisoning patients admitted or died in the emergency medical center of a general hospital located in Seoul, from January 2014 to February 2020. The subjects of this study were 190 patients. The medical records were screened retrospectively, and the clinical and epidemiological characteristics of the patients in the emergency room (ER) and ICU were examined to investigate the contributing factors that influence the poor prognosis. Results: The study analyzed 182 patients who survived after being admitted to the intensive care unit (ICU). The results are as follows. The mental change (87.4%) was the most common symptom. Sedative poisoning (49.5%) was the commonest cause. For most patients, pneumonia (26.9%) was the most common complication. Hypotension (23.7%), tachycardia (42.1%), fever (15.8%), seizures (10.5%), dyspnea (2.6%), high poisoning severity score (PSS), type of toxic material, mechanical ventilator application (39.5%), inotropes application (39.5%), and pneumonia (55.3%) were correlated the LOS over 5 days in the ICU. 8 patients died. In the case of death pesticides and carbon monoxide were the main toxic materials; tachycardia, bradycardia, and hypotension were the main symptoms, and a mechanical ventilator and inotropes were applied. Conclusion: Patients with unstable vital signs, high PSS, and non-pharmaceutical poisoning had a prolonged LOS in the ICU and a poor prognosis.