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Nam, Tai-Seung,Kim, Jin Hee,Chang, Chi-Hsuan,Yoon, Woong,Jung, Yoon Seok,Kang, Sa-Yoon,Shin, Boo Ahn,Perng, Ming-Der,Choi, Seok-Yong,Kim, Myeong-Kyu Macmillan Publishers Limited 2015 European journal of human genetics Vol.23 No.1
Alexander disease (AxD) is an astrogliopathy that primarily affects the white matter of the central nervous system (CNS). AxD is caused by mutations in a gene encoding GFAP (glial fibrillary acidic protein). The GFAP mutations in AxD have been reported to act in a gain-of-function manner partly because the identified mutations generate practically full-length GFAP. We found a novel nonsense mutation (c.1000 G>T, p.(Glu312Ter); also termed p.(E312*)) within a rod domain of GFAP in a 67-year-old Korean man with a history of memory impairment and leukoencephalopathy. This mutation, GFAP p.(E312*), removes part of the 2B rod domain and the whole tail domain from the GFAP. We characterized GFAP p.(E312*) using western blotting, in vitro assembly and sedimentation assay, and transient transfection of human adrenal cortex carcinoma SW13 (Vim<SUP>+</SUP>) cells with plasmids encoding GFAP p.(E312*). The GFAP p.(E312*) protein, either alone or in combination with wild-type GFAP, elicited self-aggregation. In addition, the assembled GFAP p.(E312*) aggregated into paracrystal-like structures, and GFAP p.(E312*) elicited more GFAP aggregation than wild-type GFAP in the human adrenal cortex carcinoma SW13 (Vim<SUP>+</SUP>) cells. Our findings are the first report, to the best of our knowledge, on this novel nonsense mutation of GFAP that is associated with AxD and paracrystal formation.
Glioblastoma Mimicking Herpes Simplex Encephalitis
Nam, Tai-Seung,Choi, Kang-Ho,Kim, Myeong-Kyu,Cho, Ki-Hyun The Korean Neurosurgical Society 2011 Journal of Korean neurosurgical society Vol.50 No.2
We report a case of 70-year-old man with glioblastoma presenting as acute encephalitic illness. The patient exhibited sudden onset of cognitive impairment and headache for 2 days. Initial brain MRI showed left temporal lobe hyperintensity, and cerebrospinal fluid cytology revealed a mild pleocytosis. The patient had initially improved after medical treatment with a presumptive diagnosis of herpes simplex encephalitis (HSE). After 8 months, the patient complained of recurrent seizures. A follow-up brain MRI revealed marked increases in size and surrounding perilesional edema in the left temporal lesion on T2-weighted images and a new contrast-enhancing lesion on gadolinium-enhanced T1-weighted images. Stereotactic brain biopsy revealed a glioblastoma. The atypical encephalitic presentation of glioblastoma should be considered if definitive evidence for the diagnosis of HSE cannot be obtained.
So-Young Huh,Su-Hyun Kim,Ki Hoon Kim,Young Nam Kwon,Sung-Min Kim,Seung Woo Kim,Ha Young Shin,Yeon Hak Chung,Ju-Hong Min,Jungmin So,Young-Min Lim,Kwang-Kuk Kim,Nam-Hee Kim,Tai-Seung Nam,Sa-Yoon Kang,Je 대한신경과학회 2022 Journal of Clinical Neurology Vol.18 No.6
Background and Purpose Fingolimod (FTY) inhibits lymphocyte egress from lymphoid organs to cause lymphopenia, but the clinical implications of FTY-induced lymphopenia are not fully understood. We aimed to determine the frequency and severity of lymphopenia during FTY treatment among Korean patients with multiple sclerosis (MS), and its association with infections. Methods We retrospectively reviewed the medical records of patients with MS treated using FTY from 12 referral centers in South Korea between March 2013 and June 2021. Patients were classified according to their nadir absolute lymphocyte count (ALC) during treatment: grade 1, 800–999/μL; grade 2, 500–799/μL; grade 3, 200–499/μL; and grade 4, <200/μL. Results FTY treatment was administered to 69 patients with a median duration of 18 months (range=1–169 months), with 11 patients being treated for ≥7 years. During FTY treatment, mean ALCs were reduced after the first month (653.0±268.9/μL, mean±standard deviation) (p<0.0001) and remained low during treatment lasting up to 84 months. During follow-up, 41 (59.4%) and 7 (10.1%) patients developed grade-3 and grade-4 lymphopenia, respectively. No significant difference was found in age at FTY initiation, sex, baseline ALC, body mass index, or prior disease-modifying treatment between patients with and without grade-4 lymphopenia. Infections were observed in 11 (15.9%) patients, and the frequencies of patients with and without grade-4 lymphopenia were similar. Conclusions FTY treatment induced grade-4 lymphopenia in 10% of South Korean patients with MS, but did not appear to be associated with an increased infection risk.
남기상,박승태,이영범,이기종,김자홍 全北大學校 科學敎育硏究所 1976 과학과 과학교육 논문지 Vol.1 No.-
In this paper the relation between science and mathematics has been tested, mathematical expressions in the textbooks have been counted according to the functions such as measure ment or computation, description and evaluation and the number of the expressions has been compared with that in the foreign text books. As a result, we have found that mathemhcal expressions for the purpose of description were the most in the text books, that algebraic formulae were the most among the descriptive expressions, and that algebraic formulae are introduced most in physics and least in biology. Among the contents of mathematics in the text books, simple equation, exponential, logarithm, triangnlation, probability and statistics are used frequeutly, while series or sequence and integration are not very frequently. Some mathematical models for science teachng have been presented after the criteria of the functions. They are consisted of several parts, i.e., statements concerning concepts or theories, questions challenging students, answers and discussions through which students can get intensive concepts. They have been arranged according as the mathematical functions without discrimimating the four fields of science subjects.