A case of isodicentric chromosome 15 presented with epilepsy and developmental delay

김존수,Jinyu Park,민병주,Sun Kyung Oh,Jin Sun Choi,Mi Jung Woo,Jong Hee Chae,Ki Joong Kim,Yong Seung Hwang,Byung Chan Lim 대한소아청소년과학회 2012 Clinical and Experimental Pediatrics (CEP) Vol.55 No.12

We report a case of isodicentric chromosome 15 (idic(15) chromosome),the presence of which resulted in uncontrolled seizures,including epileptic spasms, tonic seizures, and global developmental delay. A 10-month-old female infant was referred to our pediatric neurology clinic because of uncontrolled seizures and global developmental delay. She had generalized tonic-clonic seizures since 7 months of age. At referral, she could not control her head and presented with generalized hypotonia. Her brain magnetic resonance imaging scans and metabolic evaluation results were normal. Routine karyotyping indicated the presence of a supernumerary marker chromosome of unknown origin (47, XX +mar). An array-comparative genomic hybridization (CGH) analysis revealed amplification from 15q11.1 to 15q13.1. Subsequent fluorescence in situ hybridization analysis confirmed a idic(15) chromosome. Array-CGH analysis has the advantage in determining the unknown origin of a supernumerary marker chromosome, and could be a useful method for the genetic diagnosis of epilepsy syndromes associated with various chromosomal aberrations.

소아기 양성돌발현기증

김존수 대한의사협회 2022 대한의사협회지 Vol.65 No.2

Background: Benign paroxysmal vertigo (BPV), one of the most common causes of pediatric vertigo, is characterized by recurrent sudden short-lived attacks of vertigo, which resolve spontaneously without residual disability in otherwise healthy children. In this report, we present a literature review on BPV in childhood. Current Concepts: A child with BPV appears frightened and experiences a spinning sensation with occasional nystagmus and vomiting. Episodes usually last less than a minute and are not associated with hearing loss and altered consciousness. Most patients present with a relapsing-remitting clinical course for weeks to years, after which they usually resolve spontaneously. Based on current evidence, BPV of childhood is considered a variant of migraine, and vasospasm observed in patients with migraine plays an important role in the pathogenesis of this disorder. It is important to differentiate BPV from other diseases that present with vertigo, including basilar migraine, closed head injury, psychiatric dizziness, and acute labyrinthitis. Discussion and Conclusion: BPV is a common but important disorder observed in children and should be considered in the differential diagnosis in children with the aforementioned clinical presentation. It is important to reassure patients and parents regarding the benign course of BPV.

Silicide-Enhanced Rapid Thermal Annealing을 이용한 다결정 Si 박막의 제조 및 다결정 Si 박막 트랜지스터에의 응용

김존수,문선홍,양용호,강승모,안병태,Kim, Jone Soo,Moon, Sun Hong,Yang, Yong Ho,Kang, Sung Mo,Ahn, Byung Tae 한국재료학회 2014 한국재료학회지 Vol.24 No.9

Amorphous (a-Si) films were epitaxially crystallized on a very thin large-grained poly-Si seed layer by a silicide-enhanced rapid thermal annealing (SERTA) process. The poly-Si seed layer contained a small amount of nickel silicide which can enhance crystallization of the upper layer of the a-Si film at lower temperature. A 5-nm thick poly-Si seed layer was then prepared by the crystallization of an a-Si film using the vapor-induced crystallization process in a $NiCl_2$ environment. After removing surface oxide on the seed layer, a 45-nm thick a-Si film was deposited on the poly-Si seed layer by hot-wire chemical vapor deposition at $200^{\circ}C$. The epitaxial crystallization of the top a-Si layer was performed by the rapid thermal annealing (RTA) process at $730^{\circ}C$ for 5 min in Ar as an ambient atmosphere. Considering the needle-like grains as well as the crystallization temperature of the top layer as produced by the SERTA process, it was thought that the top a-Si layer was epitaxially crystallized with the help of $NiSi_2$ precipitates that originated from the poly-Si seed layer. The crystallinity of the SERTA processed poly-Si thin films was better than the other crystallization process, due to the high-temperature RTA process. The Ni concentration in the poly-Si film fabricated by the SERTA process was reduced to $1{\times}10^{18}cm^{-3}$. The maximum field-effect mobility and substrate swing of the p-channel poly-Si thin-film transistors (TFTs) using the poly-Si film prepared by the SERTA process were $85cm^2/V{\cdot}s$ and 1.23 V/decade at $V_{ds}=-3V$, respectively. The off current was little increased under reverse bias from $1.0{\times}10^{-11}$ A. Our results showed that the SERTA process is a promising technology for high quality poly-Si film, which enables the fabrication of high mobility TFTs. In addition, it is expected that poly-Si TFTs with low leakage current can be fabricated with more precise experiments.

Successful Experience of Cyclic Progesterone Supplementation in Catamenial Epilepsy

김존수,홍승화,김원섭 대한신경과학회 2020 Journal of Clinical Neurology Vol.16 No.4

급성 감염성 질환을 가진 영유아에서 철결핍 진단 지표로서의 망상적혈구혈색소량

김존수,최준석,최두영,유철우 대한소아청소년과학회 2008 Clinical and Experimental Pediatrics (CEP) Vol.51 No.8

Purpose:Early identification of iron deficiency in young children is essential to prevent damaging long-term consequences. It is often difficult for the pediatrician to know which indices should be used when diagnosing these conditions especially in hospitalized young children. This study investigated the clinical significances of reticulocyte hemoglobin content in young children with acute infection. Methods:We studied 69 young children aged from 6 to 24 months admitted with acute infection in a single center. Venous blood was drawn to determine hemoglobin (Hb), mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), hemoglobin content (CH), reticulocyte hemoglobin content (CHr), and red blood cell distribution width (RDW) using ADVIA 120 (Bayer Diagnostics, NY, USA). For evaluating iron status, iron, total iron binding capacity, ferritin and transferrin saturation (Tfsat) were determined. Iron deficiency was defined as Tfsat less than 20%, and iron deficiency anemia as Tfsat less than 20% and Hb level less than 11 g/dL. Results:In all, 47 were iron deficient; 17 of these had iron deficiency anemia. CHr was the only significant predictor of iron deficiency (likelihood ratio test=71.25; odds ratio=0.67; P<0.05). Plasma ferritin level had no predictive value (P=0.519). Subjects with CHr less than 27.4 pg had lower Hb level, MCH, CH, Tfsat, and iron levels than those with CHr 27.4 pg or more (P<0.05 for all). Conclusion:CHr level was a sensitive screening tool and the strongest predictor of iron deficiency in hospitalized infants with acute infection; it was cost saving and avoiding additional sampling. However its reference range should be established. (Korean J Pediatr 2008;51:827-833) Purpose:Early identification of iron deficiency in young children is essential to prevent damaging long-term consequences. It is often difficult for the pediatrician to know which indices should be used when diagnosing these conditions especially in hospitalized young children. This study investigated the clinical significances of reticulocyte hemoglobin content in young children with acute infection. Methods:We studied 69 young children aged from 6 to 24 months admitted with acute infection in a single center. Venous blood was drawn to determine hemoglobin (Hb), mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), hemoglobin content (CH), reticulocyte hemoglobin content (CHr), and red blood cell distribution width (RDW) using ADVIA 120 (Bayer Diagnostics, NY, USA). For evaluating iron status, iron, total iron binding capacity, ferritin and transferrin saturation (Tfsat) were determined. Iron deficiency was defined as Tfsat less than 20%, and iron deficiency anemia as Tfsat less than 20% and Hb level less than 11 g/dL. Results:In all, 47 were iron deficient; 17 of these had iron deficiency anemia. CHr was the only significant predictor of iron deficiency (likelihood ratio test=71.25; odds ratio=0.67; P<0.05). Plasma ferritin level had no predictive value (P=0.519). Subjects with CHr less than 27.4 pg had lower Hb level, MCH, CH, Tfsat, and iron levels than those with CHr 27.4 pg or more (P<0.05 for all). Conclusion:CHr level was a sensitive screening tool and the strongest predictor of iron deficiency in hospitalized infants with acute infection; it was cost saving and avoiding additional sampling. However its reference range should be established. (Korean J Pediatr 2008;51:827-833)

소아 두부 외상 후 경련발작의 임상양상

김존수(Jon Soo Kim),류혜원(Hye Won Ryu),변성환(Sung Hwan Byun),김헌민(Hunmin Kim),임병찬(Byung Chan Lim),채종희(Jong-Hee Chae),최지은(Jieun Choi),김기중(Ki Joong Kim),황용승(Yong Seung Hwang),황희(Hee Hwang) 대한소아신경학회 2012 대한소아신경학회지 Vol.20 No.4

목 적 : 두부 외상 후 경련이 발생했던 소아 환자들에서의 임상적 특징들 및 여러 진단도구들의 소견을 분석함으로써 병의 경과 및 치료에 대한 이해를 높이고자 한다. 방 법 : 분당서울대학교병원에 두부 외상으로 입원 치료한 18세 미만의 환아중 경련이 발생한 환자를 대상으로 의무기록을 후향적으로 분석하였다. 자료분석은 환자의 내원 당시 나이, 성별, 경련의 잠복기, 뇌 전산화 단층 촬영 또는 뇌 자기 공명 영상 소견, 뇌파 소견, 항경련제 투여 유무 및 기간과 이후 추가적인 경련의 발생을 조사하였다. 결 과 : 두부 외상 후 경련이 발생한 환자는 총 31명으로 남자는 13명이고 여자는 18명이었다. 외상 당시 평균 나이는 3.2세(4개월 ~ 6.8세)이었으며, 추적 관찰 기간은 외상 후 평균 26.0개월(12개월 ~ 54개월)이었다. 전체31명의 환자 중 21명 (67.7%)는 외상 후 24시간이내에 경련이 발생하였다. 경련이 발생한 환아에서 83.8%가 내원 당시 영상의학적이상 소견을 보였고 두개내 출혈성 병변(경막외 또는 경막하 출혈 25.8%, 뇌실질내 출혈 19.3%) 및 뇌 실질내 병변(51.6%)으로 나타났다. 뇌파 검사에서 배경파 이상을 보인 경우는 32.2%, 발작간 간질파는 45.1%에서 나타났다. 두부 외상 후 경련을 보인 모든 환자에서 항경련제를 사용하였으며 평균 12.5 주(4-40주)의 치료기간을 나타내었다. 추적 관찰 기간동안 추가 경련이 발생한 환자는 8명(25.8%)이었고 이 중 2명(6.5%)이 두부 외상 후 간질로 진단받았다. 결 론 : 두부 외상 후 발생하는 소아에서의 경련은 일반적으로 양성 임상 경과를 갖는다. 이러한 환자들의 영상의학적 소견 및 뇌파 소견이 임상 경과를 예측하는데 도움을 줄 수 있다. Purpose : Post-traumatic seizures (PTS) are well-recognized complications from head injuries and children are particularly more vulnerable to them. The aim of this study was to investigate the clinical characteristics of PTS in children and the findings of several diagnostic tools and to determine the role of prophylactic anticonvulsants. Methods : We retrospectively reviewed the medical records of patient under 18 years of age who presented with seizures after traumatic brain injuries. Data analyzed included patient’s demographics, clinical presentations, radiological and electroencephalographic findings, management and outcomes. Results : Thirty one patients with PTS were included in the study and consisted of 13 males and 18 females. A mean age of the accident was 3.2 years (4 months-6.8 years) and a mean duration of follow-up was 26.0 months (12 months-54 months). Twenty one patients (67.7%) developed seizures within 24 hours after injury. Focal radiological findings were observed in 83.8% and described as subdural or epidural hematoma (25.8%), intraparenchymal hemorrhage (19.3%) and intracerebral parenchymal lesions (51.6%). Electroecephalographic findings included background abnormalities in 32.2% and interictal epileptiform discharges in 45.1%. All patients were treated with anticonvulsants for a certain period of time and a mean duration of treatment was 12.5 weeks (4-40 weeks). Eight patients (25.8%) developed subsequent seizures during follow-up period and 2 patients (6.5%) were diagnosed afterward with post-traumatic epilepsy. Conclusion : PTS generally take a benign clinical course, but subsequent seizures including epileptic seizures can occur in minor proportion. In these cases, radiological and electroencephalographic findings are helpful in prediction of clinical course of PTS.

소아뇌전증 환자에서의 항경련제 유해반응

서아영, 김원섭, 김존수 충북대학교 의과대학 충북대학교 의학연구소 2019 忠北醫大學術誌 Vol.29 No.1

본문 참고

척수성 근위축증 환자에서의 안티센스 올리고뉴클레오타이드 치료

윤희정, 김원섭, 김존수 충북대학교 의학연구소 2021 忠北醫大學術誌 Vol.31 No.1

본문참고

소아의 뇌전증 지속증에서 포스페니토인의 효용성과 안전성

홍원기,유일한,김존수,류혜원,변성환,김헌민,임병찬,채종희,최지은,김기중,황용승,황희 대한소아신경학회 2013 대한소아신경학회지 Vol.21 No.1

목적: 본 연구에서는 소아 뇌전증 지속증 환자를 대상으로 fPHT의 효과와 안전성을 후향적으로 분석 하였다. 이 결과를 토대로 소아 뇌전증 지속증에서 fPHT을 fPHT으로 대체할 수 있음에 대해 알아보고자 하였다. 방법: 총 20명의 뇌전증 지속증 환자를 대상으로 향후적 의무 기록 조사를 하였다. fPHT을 투여한 환자들을 대상으로 임상정보와 투여 용량, 투여속도, 반응 여부, 부작용에 대해서 조사하여 효능과 안전성을 확인하였다. 결과: 남자는 12명 여자는 8명이었으며 투여 당시 평균 연령은 3.98±4.74세(범위: 0-18.6세)였다. 전체 20명중 15명이 뇌전증 지속증 발병 이전에 신경학적으로 건강하였으며, 5명은 경련을 동반한 신경학적 질환으로 이미 항경련제를 쓰고 있었다. 정맥용 fPHT을 투여한 후 전체 20명중 15명(75%)에서 발작 소실의 반응을 보였다. 부작용은 모든 환자에서 발생하지 않았다. 결과: 본 연구에서는 PHT과 비교하였을 때 fPHT이 효능이 떨어지지 않으며 부작용이 적어 소아 뇌전증 지속증에서 PHT을 대체할 수 있음을 확인할 수 있었다. Purpose: The study was aimed 10 investigate the effectiveness and tolerability of intravenous fosphenytoin ([PHT) in the treatment of pediatric status epilepticus (SE). Methods: Medical-records of patients who received intravenous (IV) fPHT for the treatment of SE were retrospectively reviewed and their clinical data were analyzed regarding age. gender. seizure types. underlying neurologic status. use of other anticonvulsants. loading dose. response and adverse events of IV fPHT. Results: Twenty patients (12 boys and 8 girls) were included in the study. The mean age at administration of IV fPHT was 3.98 years (range 0-18.6 years). Of the 20 patients. 15 patients had no underlying neurological conditions. but five patients were on anticonvulsants. IV fPHT terminated the seizures in 15 of the 20 patients (75%). No adverse events occurred during or after the infusions. Conclusion: This study demonstrated that IV fPHT was as effective as phenytoin and was well-tolerated in the treatment of pediatric SE. IV fPHT can be considered as a substitute for phenytoin in the management of pediatric SE.

청소년 연령에서의 볼거리 뇌수막염 유행

이효은,곡진진,최은혜,김존수 대한소아신경학회 2017 대한소아신경학회지 Vol.25 No.4

Purpose: We report sharp rise of incidence of mumps meningitis at our institute and describe the clinical manifestations, laboratory findings, and complications. Methods: This is a retrospective study involving 34 patients with mumps meningitis at Eulji University Hospital from July 2012 to June 2014. They were diagnosed by definite parotid gland swelling and leukocytosis in cerebrospinal fluid (CSF) study. Results: Nineteen (55.9%) of the 34 patients with mumps meningitis were confirmed as positive by the mumps virus-specific immunoglobulin M (IgM) antibody in serum or CSF and the remaining 15 patients (44.1%) were classified as probable cases. We identified 31 boys and 3 girls clearly showing male predominance. The median age of the patients was 15.8 years and all patients were in the middle school and high school age group. Sixteen patients (47.1%) had unilateral mumps and 29 patients (85.3%) were diagnosed with meningitis after parotid swelling. Six patients (17.6%) were accompanied by testicular involvement and one (2.9%) showed hearing loss. The positivity of mumps virus specific IgM was 17 of 34 (50.0%) in serum and 4 of 34 (11.8%) in CSF. The total duration of illness including hospitalization was 5 to 21 days, median being 11 days. There was no serious neurologic deficit but 5 of 34 (14.7%) complained dizziness after discharge. It caused delay in back-to-work. Conclusion: It is worthy to notice that recent outbreak of mumps among adolescents are more complicated. We need to be more aggressive about prevention of mumps outbreak which bring on substantial socioeconomic loss. 목적: 최근 대전지역에서 집단 발생한 청소년 연령에서의 볼거리뇌수막염에 대한 임상적 특징을 분석하고자 한다. 방법: 2012년 7월부터 2014년 6월까지 을지대학교병원에서 볼거리뇌수막염으로 진단받은 34명을 대상으로 의무기록을 후향적으로 조사하였다. 볼거리 감염환자와의 접촉, 뚜렷한 이하선 부종 및 혈청 또는 뇌척수액에서 볼거리 바이러스 특이 IgM 항체 유무, 그리고 뇌척수액내 백혈구 증가증 여부에 따라 진단하였다. 결과: 31명이 남자였고 3명이 여자로 남성 우세를 분명히 나타내었다. 환자의 중간 연령은 15.8세였고 모든 환자는 중학교 및 고등학교연령 그룹에 속하였다. 16명(47.1%)에서 일측성 유행성 이하선염이 있었고, 29명(85.3%)은 이하선 부종이후 뇌수막염으로 진단하였다. 모든 환자는 발열, 두통, 구역 또는 구토의 수막 자극 징후가 확인되었다. 6명(17.6%)은 고환염이 동반되었으며, 1명(2.9%)은 청력 소실이 발생하였다. 볼거리 바이러스 특이 IgM의 양성율은 혈청에서 총 34명중 17명(50.0%)이었으며, 뇌척수액에서는 34명 중 4명(11.8%)이었다. 입원기간을 포함한 질병의 총 지속 기간은 5일에서 21일이며 중앙값은 11일이었다. 중대한 신경학적 손상은 없었으나 퇴원 후 34명 중 5 명(14.7%)이 현기증을 호소하였고, 이로 인해 일상생활의 복귀가 지연되었다. 결론: 청소년 연령에서 발생한 최근의 볼거리 대유행은 좀 더 합병증이 동반되었다는 사실은 주목할 만하다. 상당한 사회경제적 손실을유발하는 볼거리 대유행에 대한 적극적인 예방이 필요할 것으로 사료된다.