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혈액에서 분리된 Anaerobiospirillum succiniciproducens 1예
장우리,남정현,문연숙,제영수,용동은,김진주 대한임상미생물학회 2012 Annals of clinical microbiology Vol.15 No.2
Anaerobiospirillum succiniciproducens는 나선형의 그람음성 무산소성 세균이다. A. succiniciproducens는 특히 면역력이 저하된 환자에서 드물게 균혈증을 일으킨다. 이 균은 자동화균주 동정기계에서 다른 균으로 동정되거나 그람염색상에서 Campylobacter spp.로 동정될 수도 있다. 저자들은 위암으로 항암치료를 받던 69세 환자에서 catalase, oxidase, urease에 음성이고, 16S rRNA 염기서열분석에서 A. succiniciproducens로 동정된 균혈증 1예를 국내에서 처음으로 경험하였기에 보고하는 바이다.
CDKN2B downregulation and other genetic characteristics in T-acute lymphoblastic leukemia
장우리,박준홍,권아림,최하영,김지연,이건동,한은희,제갈동욱,채효진,한경자,윤재호,이석,정낙균,조빈,김명신,김용구 생화학분자생물학회 2019 Experimental and molecular medicine Vol.51 No.-
We identified principal genetic alterations in 97.1% (99/102) of patients with T-acute lymphoblastic leukemia (T-ALL) using integrative genetic analyses, including massive parallel sequencing and multiplex ligation-dependent probe amplification (MLPA). A total of 133 mutations were identified in the following genes in descending order: NOTCH1 (66.7%), FBXW7 (19.6%), PHF6 (15.7%), RUNX1 (12.7%), NRAS (10.8%), and DNMT3A (9.8%). Copy number alterations were most frequently detected in CDKN2B, CDKN2A, and genes on 9p21.3 in T-ALL (45.1%). Gene expression data demonstrated the downregulation of CDKN2B in most cases of T-ALL, whereas CDKN2A downregulation was mainly restricted to deletions. Additional quantitative methylation analysis demonstrated that CDKN2B downregulation stemmed from deletion and hypermethylation. Analysis of 64 patients with CDKN2B hypermethylation indicated an association with an older age of onset and early T cell precursor ALL, which involved very early arrest of T cell differentiation. Genes associated with methylation and myeloid neoplasms, including DNMT3A and NRAS, were more commonly mutated in T-ALL with CDKN2B hypermethylation. In particular, a CDKN2B biallelic deletion or high methylation level (≥45%), the age of onset, and the GATA3 and SH2B3 mutations were factors associated with a poor prognosis. This study clarifies that one of the most important genetic events in T-ALL, namely, CDKN2B downregulation, occurs mechanistically via deletion and hypermethylation. Different susceptible genetic backgrounds exist based on the CDKN2B downregulation mechanism.
張宇超(장우초) 한국교통대학교 동아시아연구소 2020 동아문헌연구 Vol.- No.-
《문필안심초(文筆眼心抄)》는 일반적으로 《문경비부론(文鏡秘府論)》의 축약본으로 인식되고 있다. 《문경비부론》은 일본 승려 편조 금강(遍照金剛, 속명은 좌백 공해/佐伯空海:774 ~ 835)이 편찬한 중국문론사 저서이다. 남북조에서 중당시기에 이르기까지 시가 작법이라거나 시가 이론에 관한 저작을 모은 것인데, 이들 중 다수가 이미 중국에서는 실전되어 문학연구에서 자료 가치가 높은 책이다. 그러나 《문필안심초》는 현존본 《문경비부론》과 완전히 포함관계에 있지 않다. 대표적으로, 《문경비부론》에 보이지 않는 시가작품으로 5언시 15수 (행 수는 30구), 7언시 1수(행은 2구)가 수록되어 있다. 때문에 진충(陳翀) 같은 경우는 《문필안심초》가 위서(僞書)라고까지 하였는데 자세히 관찰 해 보면 이것은 《문필안심초》가 완성 된 뒤 후세 사람들이 끊임없이 수정하였기 때문임을 알 수 있다. 한편, 진충은 《문필안심초》의 저본이 일본의 와카(和歌) 창작 지도를 위한 교재라고도 하였다. 이것은 겸창(가마쿠라:鐮倉)막부 시대의 《화원천황신기(하나조노텐노신키:花園天皇宸記》에 《문필안심초》가 언급되어 있다는 것에 근거를 두고 있다. 그러나 이것은 원문에 보이는 “兼”자를 일본어 훈독으로 보아 “予て(かねて)”, 즉 “애당초부터, 처음 시작할 때부터 이미”의 의미로 본 것인데, 이 부분에서 “爲兼”은 인명으로 보는 것이 타당하다. 그래서 와카 창작의 지도용 서적 같은 것은 아니며, 《시인옥설(詩人玉屑)》 같은 시론, 시화서의 성질을 갖는 것이고, 아울러 일본 평안(헤이안:平安)시대 한시학(漢詩學)가 밀접한 관련을 갖는다. Wenbiyanxinchao is generally considered to be the abridged version of Wenjingmifulun, in which poems not quoted in Wenjingmifulun are retained, including, 15 poems 30 sentences of five characters poem, 1 poem 2 sentences of seven characters poem. Almost all of them come from the newly added contents of Wenbiyanxinchao, which reflects that the appearance of Wenbiyanxinchao is constantly modified by later generations, rather than the original appearance of Konghai at that time. At the same time, Wenbiyanxinchao is not a guide book for Waka writing. Its nature is similar to Shirenyuxie, and it is still closely related to the Chinese character poetics in the Heian era of Japan.
장우리,김용구,한은희,박준홍,채효진,권아름,최하영,김지연,손정옥,이상지,홍보영,장대현,한지윤,이정현,김소영,이인구,성인경,문연숙,김명신,박주현 대한진단검사의학회 2019 Annals of Laboratory Medicine Vol.39 No.3
Background: To validate the clinical application of chromosomal microarray analysis (CMA) as a first-tier clinical diagnostic test and to determine the impact of CMA results on patient clinical management, we conducted a multicenter prospective study in Korean patients diagnosed as having developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), and multiple congenital anomalies (MCA). Methods: We performed both CMA and G-banding cytogenetics as the first-tier tests in 617 patients. To determine whether the CMA results directly influenced treatment recommendations, the referring clinicians were asked to complete a 39-item questionnaire for each patient separately after receiving the CMA results. Results: A total of 122 patients (19.8%) had abnormal CMA results, with either pathogenic variants (N=65) or variants of possible significance (VPS, N=57). Thirty-five well-known diseases were detected: 16p11.2 microdeletion syndrome was the most common, followed by Prader–Willi syndrome, 15q11-q13 duplication, Down syndrome, and Duchenne muscular dystrophy. Variants of unknown significance (VUS) were discovered in 51 patients (8.3%). VUS of genes putatively associated with developmental disorders were found in five patients: IMMP2L deletion, PTCH1 duplication, and ATRNL1 deletion. CMA results influenced clinical management, such as imaging studies, specialist referral, and laboratory testing in 71.4% of patients overall, and in 86.0%, 83.3%, 75.0%, and 67.3% of patients with VPS, pathogenic variants, VUS, and benign variants, respectively. Conclusions: Clinical application of CMA as a first-tier test improves diagnostic yields and the quality of clinical management in patients with DD/ID, ASD, and MCA.