• 전기전자학회논문지
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• 제22권4호
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• pp.1175-1179
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• 2018

본 논문에서는 뇌파 신호를 이용하여 환자의 경련을 감지하는 순환 CNN (Convolutional Neural Networks)을 제안한다. 제안 된 방법은 뇌파 신호의 스펙트럼 특성과 전극의 위치를 보존하기 위해 영상으로 데이터를 매핑하여 처리하였다. 스펙트럼 전처리 과정을 거친 후 CNN에 입력하고 공간 및 시간 특성을 웨이블릿 변환(wavelet transform)없이 추출하여 발작을 검출하였다. 여기에 사용된 보스턴 매사추세츠 공과 대학 (Boston Massachusetts Institute of Technology, CHB-MIT) 아동 병원의 데이터셋 결과는 시간당 0.85의 민감도와 90 %의 위양성 비율 (FPR)을 보였다.

• Journal of Genetic Medicine
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• 제16권1호
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• pp.19-22
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• 2019

The infantile convulsions and choreoathetosis (ICCA) syndrome is defined when two overlapping clinical features of benign familial infantile epilepsy (BFIE) and paroxysmal kinesigenic dyskinesia (PKD) are present in an individual or a family. Since the gene encoding proline-rich transmembrane protein 2 (PRRT2) was first identified in Han Chinese families with PKD, mutations of PRRT2 have additionally been reported in patients with BFIE and ICCA. We attempted to identify the genetic etiology in an ICCA family where the proband, her elder sister, and a maternal male cousin had BFIE, and her mother had PKD. Whole-exome sequencing performed in the proband and her sister and mother identified a novel pathogenic mutation of PRRT2 (c.640delinsCC; p.Ala214ProfsTer11), which was verified by Sanger sequencing. This frameshift PRRT2 mutation located near the genetic hot spot of base 649_650 results in the premature termination of the protein, as do most previously reported mutations in BFIE, ICCA, and PKD.

• 한국군사과학기술학회지
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• 제24권1호
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• pp.144-150
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• 2021

This study was designed to evaluate the prophylactic efficacy of a combinational patch system containing physostigmine and procyclidine against sarin and soman using guinea pig. The median lethal dose values of two nerve agents were calculated by a probit analysis of deaths occurring within 24 h. In this study, the values of median lethal dose of sarin and soman were determined to be 33.0 and 26.7 ㎍/kg in guinea-pigs, respectively. The guinea pigs treated with a prophylactic patch(4×5 ㎠) for 24 h were 100 % protected against a challenge of 1.5 LD50. The combinational KMARK-1(atropine and 2-PAM) and prophylactic patch were more effective than a single KMARK-1, a combination of pyridostigmine and KMARK-1 significantly. Epileptiform seizures in the guinea pigs treated with the combinational antidotes led to neuropathological changes, in comparison with intact feature of brain of the animal treated with the patch.

• 대한정형외과학회지
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• 제55권3호
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• pp.266-270
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• 2020

뇌전증에 의한 전신 발작 시 발생한 강력한 근육 수축에 의한 근골격계 손상이 발생할 수 있다. 외상 및 기저질환 없이 전신 발작 후 발생한 다발성 흉추 골절에 대한 국외 증례는 많지만 국내의 연구나 증례보고는 없다. 이전에 골다공증이나 특이 질환이 없는 42세 남자 환자의 수면 중 전신 간대성 발작에 의한 다발성 흉추 골절을 진단하였기에 증례를 보고하는 바이다.

• 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.

• Journal of Genetic Medicine
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• 제19권2호
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• pp.111-114
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• 2022

Many monogenic neurodevelopmental disorders have been newly identified in recent years owing to the rapid development of genetic sequencing technology. These include variants of the epigenetic machinery - up to 300 known epigenetic factors of which about 50 have been linked to specific clinical phenotypes. Chromodomain, helicase, DNA binding 1 (CHD1) is an ATP-dependent chromatin remodeler, known to be the causative gene of the autosomal dominant neurodevelopmental disorder Pilarowski-Bjornsson syndrome. Patients exhibit various degrees of global developmental delay, autism, speech apraxia, seizures, growth retardation, and craniofacial dysmorphism. We report the first case of Pilarowski-Bjornsson syndrome in Korea, due to a de novo missense variant of the CHD1 gene (c.862A>G, p.Thr288Ala) in a previously undiagnosed 17-year-old male. His infantile onset of severe global developmental delay, intellectual disability, speech apraxia, and failure to thrive are compatible with Pilarowski-Bjornsson syndrome. We also noted some features not previously reported in this syndrome such as skeletal dysplasia and ichthyosis. Further studies are needed to discover the specific phenotypes and pathogenic mechanisms behind this rare disorder.

• Journal of Yeungnam Medical Science
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• 제40권2호
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• pp.207-211
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• 2023

Fat embolism syndrome is a rare but alarming, life-threatening clinical condition attributed to fat emboli entering the circulation. It usually occurs as a complication of long-bone fractures and joint reconstruction surgery. Neurological manifestations usually occur 12 to 72 hours after the initial insult. These neurological complications include cerebral infarction, spinal cord ischemia, hemorrhagic stroke, seizures, and coma. Other features include an acute confusional state, autonomic dysfunction, and retinal ischemia. In this case series, we describe three patients with fat embolism syndrome who presented with atypical symptoms and signs and with unusual neuroimaging findings. Cerebral fat embolism may occur without any respiratory or dermatological signs. In these cases, diagnosis was established after excluding other differential diagnoses. Neuroimaging using brain magnetic resonance imaging is of paramount importance in establishing a diagnosis. Aggressive hemodynamic and respiratory support from the beginning and consideration of orthopedic surgical intervention within the first 24 hours after trauma are critical to decreased morbidity and mortality.

• 한국자원식물학회:학술대회논문집
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• 한국자원식물학회 2021년도 춘계학술대회
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• pp.45-45
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• 2021

This study aimed to explore research on bibliometric features of cannabis by applying scientometric analysis method, and to approach experimental research evaluation based on it. A total of 30,352 articles on cannabis published since 2001 from SCOPUS were analyzed using KnowledgeMatrix Plus and VOSviewer software. Results showed differences in research activities in countries where cannabis is legalized (Canada, the United States, the Netherlands) and Asian countries where its use is illegal. Related to medical cannabis, there has been a noticeable increase in the number of studies on pain, epilepsy, seizures and brain diseases such as multiple sclerosis. In the field of basic research, the number of pharmacological studies of cannabis on the cannabinoid type 1 receptor signaling pathway and inflammation and obesity has increased significantly. Subsequent experimental studies have compared the anti-inflammatory effects of four parts of Korean cannabis such as root, stem, leaf, and bark. Consistent with the predicted results of the scientometric analysis, all parts of C. sativa showed inhibitory effects on COX-2, NO/iNOS and TNF-α expression in LPS-stimulated RAW264.7 cells. These attempts provide an experimental research approach based on scientometric assessment.

• Biomolecules & Therapeutics
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• 제16권2호
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• pp.118-125
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• 2008

Gardenia jasminoides (G. jasminoides) is traditionally used to treat insomnia, jaundice, emotional disorders, hepatic disease, and inflammatory disease. Previously, we found that geniposide and the water extract of G. jasminoides increased $Cl^-$ influx in neuroblastoma. Here we examined the sychopharmacological activities of G. jasminoides and its constituents. G. jasminoides extract was orally administered at 100 and 200 mg/kg, and genipin and geniposide were intraperitoneally injected at 2, 10, and 20 mg/kg. G. jasminoides extract (200 mg/kg) significantly decreased total open field activity but increased rearing activity in the center of the open field, suggesting an increase in exploratory activity. Genipin and geniposide did not change open field activity, but geniposide (20 mg/kg) increased rearing activity in the central area. The extract (200 mg/kg) significantly decreased rotarod and wire-balancing activity, but genipin and geniposide did not. No compounds influenced thiopental-induced sleeping or electroshock-induced seizures. The extract (200 mg/kg) significantly increased staying time in the open arms of the elevated plus maze and the entry ratio into the open arms, and geniposide (20 mg/kg) also increased open arm entry. Electroshock stress decreased open arm activity, but the extract and geniposide (20 mg/kg) significantly reversed that effect. This results indicate that G. jasminoides extract and geniposide alleviated anxiety with greater efficacy in stressed animals than normal animals.

• The Korean Journal of Physiology and Pharmacology
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• 제24권1호
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• pp.81-88
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• 2020

Regulator of calcineurin 1 (RCAN1) can be induced by an intracellular calcium increase and oxidative stress, which are characteristic features of temporal lobe epilepsy. Thus, we investigated the spatiotemporal expression and cellular localization of RCAN1 protein and mRNA in the mouse hippocampus after pilocarpine-induced status epilepticus (SE). Male C57BL/6 mice were given pilocarpine hydrochloride (280 mg/kg, i.p.) and allowed to develop 2 h of SE. Then the animals were given diazepam (10 mg/kg, i.p.) to stop the seizures and sacrificed at 1, 3, 7, 14, or 28 day after SE. Cresyl violet staining showed that pilocarpine-induced SE resulted in cell death in the CA1 and CA3 subfields of the hippocampus from 3 day after SE. RCAN1 immunoreactivity showed that RCAN1 was mainly expressed in neurons in the shammanipulated hippocampi. At 1 day after SE, RCAN1 expression became detected in hippocampal neuropils. However, RCAN1 signals were markedly enhanced in cells with stellate morphology at 3 and 7 day after SE, which were confirmed to be reactive astrocytes, but not microglia by double immunofluorescence. In addition, realtime reverse transcriptase-polymerase chain reaction showed a significant upregulation of RCAN1 isoform 4 (RCAN1-4) mRNA in the SE-induced hippocampi. Finally, in situ hybridization with immunohistochemistry revealed astrocytic expression of RCAN1-4 after SE. These results demonstrate astrocytic upregulation of RCAN1 and RCAN1-4 in the mouse hippocampus in the acute and subacute phases of epileptogenesis, providing foundational information for the potential role of RCAN1 in reactive astrocytes during epileptogenesis.