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        정신분열병 환자에서의 혈중 Homocysteine 농도와 MTHFR C677T, A1298C의 유전자 다형성

        이영식,전창무,나철,채석래,Lee, Young Sik,Jeon, Chang Moo,Na, Chul,Chae, Seok Lae 대한생물정신의학회 2005 생물정신의학 Vol.12 No.2

        Objectives:Recently in schizophrenia high incidence of MTHFR(methylenetetrahydrofolate reductase), which is a main relating enzyme that reduce homocysteine level, genetic variations were reported. So we examined serum homocysteine level and MTHFR gene polymorphism in Korean schizophrenics. Method:We compared serum homocysteine level and MTHFR polymorphism between 235 schizophrenics (100male, 135female) and 235 normal controls(100male, 135female). C677T and A1298C polymorphism of MTHFR gene were analyzed. Results:1) C677T genetic mutation(CT and TT) were more frequent in schizophrenia group than normal control group(p<0.01). But the difference of A1298C mutation frequency was not found between two groups. 2) In schizophrenia patients, TT genotype of C677T mutation showed significantly higher homocysteine level (29.99uM/L) than other group(CT:13.34uM/L, CC:9.34uM/L p<0.01). 3) MTHFR 677 TT homogeneous mutation genotype showed two times more risk(odds ratio=2.15) than 677CC normal genotype in schizophrenia. Conclusion:Some schizophrenia patients with high homocysteine serum level may have C677T TT genotype. In that case, folate ingestion could be a good management for clinical improvement.

      • KCI등재
      • KCI등재
      • KCI등재후보

        한국 정신분열병 환자에서의 혈중 Homocysteine, 엽산, Vitamin B12 농도 비교연구

        김태호,이영식,송성용,민경준,기백석,나철,채석래,Kim, Tae Ho,Lee, Young Sik,Song, Seong Yong,Min, Kyung Joon,Kee, Baik Seok,Na, Chul,Chae, Seok Lae 대한생물정신의학회 2004 생물정신의학 Vol.11 No.2

        Objective:There have been a kind of transmethylation theory that high homocysteine serum concentration affects schizophrenia by neurotoxic mechanism and clinical reports that some schizophrenic patients with high homocysteine were improved by high folate ingestion. This study was done to confirm previous research results and find the clinical characteristics of schizophrenia showing high serum homocysteine and low folate. Method:We compared the serum levels of homocysteine, folate and vitamin B12 level between 234 schizophrenic patients(male 99, female 135) group and 234 normal controls(male 99, female 135) group. The subjects of two groups were age and sex matched. The evaluated clinical characteristics items were sex, age, onset of disease, hereditary loading, disease course, hallucination and subtype of schizophrenia. Results:1) Homocysteine level of the schizophrenia group was significantly higher than the normal control group and folate level of the schizophrenia group was significantly lower than the normal control group. Homocysteine level was more negatively correlated with folate level in the schizophrenia group than the normal control group. 2) The percentage of high homocysteine(above 12.46umol/L;90 percentile of normal control) was 33.8% of schizophrenia patients and 51.5% of male schizophrenia. The percentage of low folate(below 3.8nM/L;bottom tertile of normal control) was 66.2% of schizophrenia. 3) In low folate group and not-low folate group, schizophrenia showed significantly higher homocysteine level than normal control. Especially, low folate schizophrenia group showed significantly higher homocysteine level than low folate normal control group. Conclusions:Some schizophrenia patients with high serum homocysteine may be genetic defector and having low folate serum level. In that case, folate ingestion could be a good management for clinical improvement.

      • SCIESCOPUSKCI등재
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      • 혈액질환에서 세포유전학적 이상

        채석래,차영주 중앙대학교 의과대학 의과학연구소 1998 中央醫大誌 Vol.23 No.3

        1991년 3월부터 1998년 7월까지 중대 부속 용산병원 임상병리과에 의뢰된 혈액질환 환자 및 림프종의 골수 전이 여부를 알고자 했던 환자 218명의 골수 흡인 검체를 대상으로 고정도분염법에 의한 염색체 검사를 실시하여 다음과 같은 결과를 얻었다. 1. 급성골수성백혈병 40예 중 23예(58%)에서 염색체 이상소견을 보였으며, 중요한 염색체 이상으로는 8;21 전좌(4예), 15;17 전좌(3예), 11번 전좌(2예), 5번 결실(1예), 7번 결실(4예), 8번 획득(2예) 등이 있었으며, 3개 이상의 염색체 결함이 있는 경우가 3예 있었다. 2. 림프구성 백혈병 15예 중 7명(47%)에서 염색체 이상소견을 보였으며, 중요한 염색체 이상으로는 9;22 전좌(3예) 및 과배수성 염색체(1예)가 있었다. 3. 만성골수증식성질환 20명 중 만성골수성백혈병 7명 모두에서 9;22 전좌가 있었다. 4. 골수이형성증후군 16예 중 10예(63%)에서 염색체 이상소견을 보였으며, 특히 RA에서의 염색체 결함의 빈도가 대체로 높았다. International prognostic scoring system에 따른 염색체 예후양호군은 6예, intermediate group은 7예, 불량군은 3예이었으며, 주요 결함으로서 5번 결실(2예), 7번 결실(1예), 8번 획득(3예) 및 5;22 전좌 1예등이었다. 5. 다발성골수종, 림프종 및 기타 혈액질환 환자에서는 특이한 염색체 결함은 발견되지 않았다. 이상과 같은 결과로서 염색체 검사는 혈액질환의 진단 및 예후결정에 중요한 역할을 한다고 사료되지만 염색체 제작과정이 까다롭고 시간이 걸리며, 판독자의 실력에 따라 판독에 차이가 있을 수 있으므로 많은 경험을 쌓아야 하며, 분자생물학적 진단을 병행한다면 감도 및 특이도를 더 높일 수 있으리라 사료된다. Cytogenetic analyses of 218 patients with hematologic diseases and lymphoma were performed by MTx-treated high-resolution banding technique and the results were as follows. 1. Twenty three cases (58%) of 40 acute myelogenous leukemias revealed cytogenetic defects, and main defects were t(8;21), t(15;17), t(11q23;variable), -5, -7/del(7q), +8, and complex defects. 2. Seven cases (47%) of 15 lymphocytic leukemias revealed cytogenetic defects, and main defects were 5(9;22) and hyperdiploid chromosome. 3. In 20 cases of chronic myeloproliferative disorders, all of 7 chronic myelogenous leukemia had t(9;22). 4. Sixteen cases(63%) of 16 myelodysplastic syndromes revealed cytogenetic defects, and main defects were del(5q), -7, +8, and 5(5;12). The frequency of cytogenetic defects in the refractory anemia appeared high. According to the international prognostic scoring system(IPSS), 6 cases were classified as good, 7 cases as intermediate and 3 cases as poor karyotype group. 5. Other hematologic disease, lymphoma or multiple myeloma cases did not have disease-specific cytogenetic abnormalities. In conclusion, cytogenetic study plays an important role in the diagnosis and differential diagnosis of hematologic diseases as well as prediction of prognosis, and molecular study together with cytogenetic interpretation by skilled expert would raise sensitivity and specificity in the detection of genetic defects.

      • 자동화 매독 검사법인 Architect Syphilis TP assay와 Mediace TPLA의 일치율 및 위양성 평가

        허희진,채석래 동국대학교 의학연구소 2009 東國醫學 Vol.16 No.1

        자동화장비로 검사 가능한 Mediace Treponema pallidum latex agglutination (Sekisui, Japan; 이하 Mediace TPLA)와 Architect Syphilis TP assay (Abbott, Germany; 이하 Syphilis TP)의 결과치를 비교하여 일치율을 조사하였다. 트레포네마검사에서 위양성의 가능성이 높은 환자 검체를 대상으로 두 검사법의 위양성률을 구하여 두 자동화검사법의 유용성을 평가하고자 하였다. Mediace TPLA 양성이었던 161 예를 대상으로 Syphilis TP 검사를 시행하였다. 위양성률을 평가하기 위해 항핵항체 양성이거나 B형간염표면항원 양성, 항-C형간염바이러스항체 양성, rheumatoid factor 양성, CRP 양성 또는 70세 이상의 고령 환자 검체 234예를 연구 대상으로 Mediace TPLA와 Syphilis TP 검사를 시행하였다. 두 검사 결과의 차이를 보이는 예는 line-blot immunoassay (Innolia Syphilis score, Innogenetics, Belgium)로 확인하였다. Mediace TPLA 양성이었던 161예중 4예 (2.5%)는 Syphilis TP 음성이었고, 이 중 2예는 line-blot immunoassay 양성, 2에는 음성이었다. 중화후 Mediace TPLA, 중화전 Mediace TPLA와 Syphilis TP의 위양성률은 각각 0%(0/234), 1.7%(4/234), 1.7%(4/234)였다. 두 검사의 일치율은 98%(387/395) 였다. 자통화 매독검사인 Mediace TPLA와 Syphilis TP는 양성으로 나온 검체에서의 일치율이 높고 기존의 트레포네마검사 보다 낮은 위양성률을 보이므로, 수기법을 대체할 수 있는 유용한 검사로 생각된다. We compared the results of Mediace Treponema pallidum latex agglutination (TPLA) (Sekisui Chemical Co., Ltd, Japan) with Architect Syphilis TP assay (Syphilis TP) (Abbott, Germany), automated treponemal tests for the diagnosis of syphilis. To establish false positive rates, two methods were tested with patients' sera with laboratory results reported to be related with false positivity of treponemal test. One hundred sixty one patients' sera with Mediace TPLA positivity underwent Syphilis TP. Two hundred thirty four patients' sera with positivity for anti-nuclear antibody, HBs Ag, Anti-HCV, rheumatoid factor or CRP, or old age (≥70) were included in the evaluation of false positive rates. Discrepancies between Mediace TPLA and Syphilis TP results were confirmed by line-blot immunoassay (Innolia Syphilis score, Innogenetics, Belgium). Among 161 patients' sera with Mediace TPLA positivity, 4 cases (2.5%) showed discrepancy between Mediace TPLA and Syphilis TP results: Among 4 cases, 2 cases showed positive line-blot immunoassay results and 2 showed negative results. False positive rate of Mediace TPLA after neutralization, Mediace TPLA before neutralization and Syphilis TP was 0.0% (0/234), 1.7% (4/234) and 1.7% (4/234), respectively. The concordance rate of Mediace TPLA and Syphilis TP was 98% (387/395). The results of comparison data demonstrated that Mediace TPLA and Syphilis TP had high concordance. False positivity of Mediace TPLA and Syphilis TP were low compared with previously reported that of treponemal test. Therefore, automated treponemal tests would be considered to be a valid alternative to traditional treponemal test for confirmation of syphilis.

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