주민참여를 통한 도시개발과정의 민주화에 대한 연구

Kim,Hunmin 한국행정학회 1995 한국행정학회 학술발표논문집 Vol.1995 No.-

Generalized Tonic-Clonic Seizures after Self-Limited Epilepsy with Centrotemporal Spikes: A Case Series

Hye Jin Kim(Hye Jin Kim),Young Joon Ko(Young Joon Ko),Soo Yeon Kim(Soo Yeon Kim),Anna Cho(Anna Cho),Hunmin Kim(Hunmin Kim),Byung Chan Lim(Byung Chan Lim),Hee Hwang(Hee Hwang),Jong-Hee Chae(Jong-Hee Ch 대한소아신경학회 2022 대한소아신경학회지 Vol.30 No.4

Purpose: Patients with self-limited epilepsy with centrotemporal spikes (SLECTS) rarely experience generalized tonic-clonic seizures (GTCS) after remission, and post-remission GTCS has not been thoroughly described in earlier studies. Herein, we describe the clinical and electrographic features of GTCS after a substantial period of seizure freedom in patients with SLECTS. Methods: This study included six patients (three boys and three girls) diagnosed with SLECTS who later developed GTCS after or near remission. Medical records, including clinical data and serial electroencephalography (EEG) recordings, were retrospectively reviewed for all patients. Results: Patients’ age at SLECTS onset ranged from 5.2 to 10.2 years (mean, 8.4 years), while seizure cessation was achieved between 8 and 12.2 years. During SLECTS, typical centrotemporal spikes were observed in all patients, and generalized spike-and-wave discharges were observed in three patients. The age at the first episode of subsequent GTCS ranged from 14.4 to 17.3 years (mean, 15.8 years), constituting an average interval of 5.6 years after the last episode of seizures (range, 4.1 to 8.1 years). EEG at subsequent episodes of GTCS revealed generalized discharges in two patients, focal discharges in two other patients, and normal discharges in the remaining two patients. Two patients had multiple episodes of GTCS. Conclusion: Although rare, GTCS may occur near or after remission in patients with SLECTS, and clinicians should be aware of this. Subsequent GTCS may be a manifestation of idiopathic generalized epilepsy. However, large-scale studies are needed to determine the nature of such episodes of GTCS and their associated risk factors.

Clinical and Genetic Spectrum of STXBP1 Encephalopathy in the Korean Pediatric Population

Woo Joong Kim,Young Kyu Shim,Young Jun Ko,Soo Yeon Kim,Hunmin Kim,Byung Chan Lim,Hee Hwang,Jieun Choi,Ki Joong Kim,Jong-Hee Chae 대한소아신경학회 2021 대한소아신경학회지 Vol.29 No.2

Purpose: Syntaxin-binding protein 1 (STXBP1) mutations are known to result in various phenotypes including Ohtahara syndrome, West syndrome, and autism, collectively referred as STXBP1 encephalopathy. This study aimed to expand our understanding of the genotype–phenotype spectrum of STXBP1 encephalopathy in the Korean pediatric population. Methods: Ten patients with STXBP1 mutations were enrolled for a retrospective chart review. The patients were investigated for developmental delay of unknown cause and epileptic encephalopathy at a single center. Results: Ten different STXBP1 mutations were identified. Three mutations had not previously been reported (c.1212A>C, c.1497C>G, c1030-2A>G). Eight patients showed early-onset epileptic encephalopathy as the main feature, while the main feature was developmental delay and non-epileptic movements in two patients. The most commonly seen electroencephalographic change was focal/ multifocal epileptiform discharges, which were observed in nine patients (90%). The classical burst-suppression pattern was observed in four patients, two of which evolved to show hypsarrthymia. All patients with seizures had drug-resistant epilepsy. The patients suffered from severe developmental delay regardless of seizure frequency. Six patients showed an associated movement disorder or behavioral disorder. Conclusion: This study describes the STXBP1 encephalopathy patients in Korean pediatric population, further expanding knowledge of its phenotype spectrum.

A Case of Japanese Encephalitis Presenting with Fever and Seizure in a 7-month old Infant

김수연(Soo Yeon Kim),김존수(Jon Soo Kim),이현주(Hyun Ju Lee),김헌민(Hunmin Kim),임병찬(Byung Chan Lim),황희(Hee Hwang),채종희(Jong-Hee Chae),최지은(Jieun Choi),김기중(Ki Joong Kim),황용승(Yong Seung Hwang) 대한소아신경학회 2013 대한소아신경학회지 Vol.21 No.3

Japenses encephalitis (JE)는 동아시아에서 가장 흔한 뇌염의 원인 중 하나이며 사망률과합병증 발생률이 높은 질환이다. 그러나 최근 국내에서는 국가차원의 예방접종 및 숙주 조절로 인해 JE의 발생빈도가 급격히 줄었으며, 특히 최근 10년간 9세 이하의 소아에서는 보고된 예가 없다. 따라서 소아에서 발생한 뇌염의 원인으로 먼저 고려하지 않는 것이 일반적이나 특징적인 MRI 소견과 함께 혈액 및 뇌척수액의 일본뇌염바이러스 항체 양성으로 진단된 소아의 JE 1례가 발견되었다. 환자는 발병 당시 생후 9개월로, 발열 및 열성경련을 주소로 내원하였으며 이후 경련 및 의식저하가 지속되고 호흡부전 및 자율신경계 기능이상을 동반한 나쁜 경과를 보였으나 스테로이드 및 면역글로불린 치료를 병행하면서 서서히 호전되었다. 이와 같이 특히 접종 이전의 소아에서 특히 특징적인 MRI 이상을 동반한 뇌염의 경우 JE를 반드시 감별해야 하며 의심되는 경우 예후 향상을 위해 스테로이드 및 면역글로불린 등의 치료를 고려할 수 있겠다. Japanese encephalitis is one of the leading causes of acute encephalitis in Asia. But in Korea, the number of Japanese encephalitis cases has dropped considerably due to mass vaccination and vector control. Especially, there were no case reports under the age of 9 years during the last ten years. We will describe a case of a previously healthy 7-month old boy who presented with fever and seizure. The patient was diagnosed with Japanese encephalitis, based on the cerebrospinal fluid and serum antibody analyses for the Japanese encephalitis virus. Typical brain magnetic resonance image findings of Japanese encephalitis were observed. The patient received extensive conservative treatment including high dose intravenous corticosteroid treatment and immunoglobulin. In spite of severe hemodynamic instability, the patient survived, and he is currently in a vegetative state with respiratory assist by a home ventilator. Although the incidence of Japanese encephalitis dropped dramatically in Korea, pediatricians should always consider the diagnosis as one of the possibilities for patients with encephalitis, especially if the patient is not immunized for JEV. Since there is no specific treatment for JEV, timely and comprehensive conservative care is critical to reduce the mortality and morbidity.

A familial case of limb-girdle muscular dystrophy with CAV3 mutation

Lee, Seungbok,Jang, Sesong,Shim, Youngkyu,Kim, Woo Joong,Kim, Soo Yeon,Cho, Anna,Kim, Hunmin,Kim, Jong-Il,Lim, Byung Chan,Hwang, Hee,Choi, Jieun,Kim, Ki Joong,Chae, Jong Hee Korean Society of Medical Genetics and Genomics 2019 대한의학유전학회지 Vol.16 No.2

Limb-girdle muscular dystrophy (LGMD) is a group of muscular dystrophies that has extremely heterogeneous clinical features and genetic background. The caveolin-3 gene (CAV3) is one of the causative genes. LGMD appears as a clinical continuum, from isolated skeletal muscle involvement to long QT syndrome. Here we report two patients without apparent muscle weakness in a family with CAV3 mutation. A 7-month-old Korean boy visited our muscle clinic because of an incidental finding of elevated serum creatine kinase (CK) concentration (680 IU/L, reference range, 20-270 IU/L) without clinical symptoms. The patient was born after an uneventful pregnancy and showed normal developmental milestones. He developed pseudohypertrophy of his calf muscle during the follow-up. We obtained a muscle biopsy at age 14 months, which showed size variations and degenerating/regenerating myofibers with endomysial fibrosis and immunohistochemical evidence of normal dystrophin. Under the impression of LGMD, we performed target panel sequencing and identified a heterozygous in-frame mutation of CAV3, c.307_312delGTGGTG (p.Val103_Val104del). Immunohistochemical staining of muscle indicated complete loss of caveolin-3 compared with normal control muscle, which supported the variant's pathogenicity. We performed segregation analysis and found that the patient's mother had the same variant with elevated serum CK level (972 IU/L). We report on autosomal dominant familial caveolinopathy caused by a pathogenic variant in CAV3, which was asymptomatic until the fourth decade. This case highlights the utility of next generation sequencing in the diagnosis of muscular dystrophies and the additive role of muscle biopsy to confirm the variants.

A familial case of limb-girdle muscular dystrophy with CAV3 mutation

Seungbok Lee,Sesong Jang,Youngkyu Shim,Woo Joong Kim,Soo Yeon Kim,Anna Cho,Hunmin Kim,Jong-Il Kim,Byung Chan Lim,Hee Hwang,Jieun Choi,Ki Joong Kim,Jong Hee Chae 대한의학유전학회 2019 대한의학유전학회지 Vol.16 No.2

Limb-girdle muscular dystrophy (LGMD) is a group of muscular dystrophies that has extremely heterogeneous clinical fea-tures and genetic background. The caveolin-3 gene (CAV3) is one of the causative genes. LGMD appears as a clinical contin-uum, from isolated skeletal muscle involvement to long QT syndrome. Here we report two patients without apparent muscle weakness in a family with CAV3 mutation.A 7-month-old Korean boy visited our muscle clinic because of an incidental ἀnding of elevated serum creatine kinase (CK) concentration (680 IU/L, reference range, 20-270 IU/L) without clinical symptoms. The patient was born after an uneventful pregnancy and showed normal developmental milestones. He developed pseudohypertrophy of his calf muscle during the follow-up. We obtained a muscle biopsy at age 14 months, which showed size variations and degenerating/regenerating myo-ἀbers with endomysial ἀbrosis and immunohistochemical evidence of normal dystrophin. Under the impression of LGMD, we performed target panel sequencing and identiἀed a heterozygous in-frame mutation of CAV3, c.307_312delGTGGTG (p.Val103_Val104del). Immunohistochemical staining of muscle indicated complete loss of caveolin-3 compared with normal control muscle, which supported the variant’s pathogenicity. We performed segregation analysis and found that the patient’s mother had the same variant with elevated serum CK level (972 IU/L). We report on autosomal dominant familial caveolinopathy caused by a pathogenic variant in CAV3, which was asymptom-atic until the fourth decade. This case highlights the utility of next generation sequencing in the diagnosis of muscular dystro-phies and the additive role of muscle biopsy to conἀrm the variants.

Hypokalemic periodic paralysis; two different genes responsible for similar clinical manifestations

Hunmin Kim,Hee Hwang,Hae Il Cheong,Hye Won Park 대한소아청소년과학회 2011 Clinical and Experimental Pediatrics (CEP) Vol.54 No.11

Primary hypokalemic periodic paralysis (HOKPP) is an autosomal dominant disorder manifesting as recurrent periodic flaccid paralysis and concomitant hypokalemia. HOKPP is divided into type 1 and type 2 based on the causative gene. Although 2 different ion channels have been identified as the molecular genetic cause of HOKPP, the clinical manifestations between the 2 groups are similar. We report the cases of 2 patients with HOKPP who both presented with typical clinical manifestations, but with mutations in 2 different genes (CACNA1S p.Arg528His and SCN4A p.Arg672His). Despite the similar clinical manifestations, there were differences in the response to acetazolamide treatment between certain genotypes of SCN4A mutations and CACNA1S mutations. We identified p.Arg672His in the SCN4A gene of patient 2 immediately after the first attack through a molecular genetic testing strategy. Molecular genetic diagnosis is important for genetic counseling and selecting preventive treatment.

Migration and Distribution : A Critical Examination of the Relative Deprivation Approach to Migration

Hunmin Kim(金憲珉) 한국인구학회 1990 한국인구학 Vol.13 No.1

本 論文에서는 人口移動과 所得分配의 관계를 分析하기 위하여 相對的 剝奪感 ?念을 적용한 人口移動模型을 바탕으로 個人과 社會의 分配要素가 人口移動과 어떤 相互聯關性을 갖는가를 理論的으로 檢討하였다. 人口移動으로 인한 個人의 相對的 剝奪感의 변화는 移動者와 非移動者의 移動 以前과 以後의 상대적 位置와 그들의 準據集團이 누구를 포함하는가에 따라 增加할 수도 있다. 또한 各 個人의 相對的 剝奪感의 변화에 따라 社會的 所得分配는 人口移動으로 인하여 더욱 惡化될 수도 있다는 것을 論議하였다.

Magnetoencephalography in Pediatric Lesional Epilepsy Surgery

Hunmin Kim,Byung Chan Lim,Woorim Jeong,김준식,채종희,김기중,정천기,황용승,황희 대한의학회 2012 Journal of Korean medical science Vol.27 No.6

This study was performed to assess the usefulness of magnetoencephalography (MEG) as a presurgical evaluation modality in Korean pediatric patients with lesional localizationrelated epilepsy. The medical records and MEG findings of 13 pediatric patients (6 boys and 7 girls) with localization-related epilepsy, who underwent epilepsy surgery at Seoul National University Children’s Hospital, were retrospectively reviewed. The hemispheric concordance rate was 100% (13/13 patients). The lobar or regional concordance rate was 77% (10/13 patients). In most cases, the MEG spike sources were clustered in the proximity of the lesion, either at one side of the margin (nine patients) or around the lesion (one patient); clustered spike sources were distant from the lesion in one patient. Among the patients with clustered spike sources near the lesion, further extensions (three patients)and distal scatters (three patients) were also observed. MEG spike sources were well lateralized and localized even in two patients without focal epileptiform discharges in the interictal scalp electroencephalography. Ten patients (77%) achieved Engel class I postsurgical seizure outcome. It is suggested that MEG is a safe and useful presurgical evaluation modality in pediatric patients with lesion localization-related epilepsy.

Magnetoencephalography in pediatric epilepsy

Kim, Hunmin,Chung, Chun Kee,Hwang, Hee The Korean Pediatric Society 2013 Clinical and Experimental Pediatrics (CEP) Vol.56 No.10

Magnetoencephalography (MEG) records the magnetic field generated by electrical activity of cortical neurons. The signal is not distorted or attenuated, and it is contactless recording that can be performed comfortably even for longer than an hour. It has excellent and decent temporal resolution, especially when it is combined with the patient's own brain magnetic resonance imaging (magnetic source imaging). Data of MEG and electroencephalography are not mutually exclusive and it is recorded simultaneously and interpreted together. MEG has been shown to be useful in detecting the irritative zone in both lesional and nonlesional epilepsy surgery. It has provided valuable and additive information regarding the lesion that should be resected in epilepsy surgery. Better outcomes in epilepsy surgery were related to the localization of the irritative zone with MEG. The value of MEG in epilepsy surgery is recruiting more patients to epilepsy surgery and providing critical information for surgical planning. MEG cortical mapping is helpful in younger pediatric patients, especially when the epileptogenic zone is close to the eloquent cortex. MEG is also used in both basic and clinical research of epilepsy other than surgery. MEG is a valuable diagnostic modality for diagnosis and treatment, as well as research in epilepsy.