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한민수(M . S . Han),홍성화(S . H . Hong),이상목(S . M . Lee),장린(R . Chang),이정일(J . I . Lee),장영운(Y . W . Chang),김병호(B . H . Kim),김효종(H . J . Kim),동석호(S . H . Dong) 대한내과학회 1996 대한내과학회지 Vol.50 No.2
N/A Objectives: There is no difficulty in the diagnosis of hilar cholangiocarcinoma because of early occurrence of obstructive jaundice. Though prolonged survival can be expected with surgical resection, being advanced stage at the time of diagnosis, radical resection has been impossible in most cases. Recently the significant interest has been focused on this lesion and the aggressive surgical resection increased, but the results were various. Thus, the present study was performed to evaulate the clinical characteristics of hilar cholangiocarcinoma. Methods: We evaluated retrospectively 63 cases of hilar cholangiocarcinoma which were diagnosed at Kyung Hee University Hospital from January 1988 to July 1994. Results: 1) The mean age of the patients was 58±12.0 years and the ratio of male to female was 2.9: 1. 2) Jaundice was the most common symptom (85.7%) followed by abdominel pain(53.9%), weight loss (34.9%) and pruritus(30.1%). 3) Of 13 cases(20.6%) who underwent surgical resection, 7 cases(11.1%) had curative resection. PTBD was performed in 4i cases(73%), radiotherapy in 7 cases(11.1%), chemotherapy in 4 cases (6.3%) and metallic stent insertion in 7 cases (11.1%). 4) The mean survival time was 15.3±3.0 months in resection group(13 cases, 20.6%) and 4.8±0.5 months in non-resection group(50 cases, 79.4%). The survival time of resection group was longer than that of non-resection group(p<0.01). Conclusion: In conclusion, the prognosis of hilar cholangiocarcinoma is extremely poor and the prolonged survival can be expected with surgical resection. Thus, to determine the resectability, early diagnosis is important and accurate preoperative staging is necessary
가족성선종성용종증과 Gardner 증후군가계의 유전학적 병전진단
김효종(H . J . Kim),동석호(S . H . Dong),김병호(B . H . Kim),이정일(J . I . Lee),장영운(Y . W . Chang),이기형(K . H . Lee),장린(R . Chang),최영길(Y . K . Choi) 대한내과학회 1995 대한내과학회지 Vol.48 No.4
N/A Objectives: Familial adenomatous polyposis(FAP) and Gardner syndrome(GS) are inherited in an autosomal dominant manner and predispose affected family memebers to the development of colorectal cancer. Presymptomatic diagnosis of FAP/GS have been difficult to perform effectively in the past be- cause RFLP DNA markers surrounding the APC gene on chromosome 5q have not been very informative. But several polymorphic markers are now available for genetic diagnosis of the disease. We performed genetic linkage studies on both FAP and GS families by using CA repeat polymorphism at the DSS82, proximal to APC gene. Methods: Genomic DNA was extracted from the peripheral lymphocytes from 8 members of affected families with FAP and 5 members with GS. Using FCR with[α? 32P] dC'TP incorporated for labelling, DNA fragments were amplified and identified by ethidium bromide staining after agarose gel electrophoresis. The products of the PCR are loaded on 10 % denaturing(8M urea) polyacrylamide gels in TAE buffer, and the gels dried on the filter paper and the reactions visualized by autography. Results: Five and two alleles were detected in FAP and GS family members respectively. But two affected individuals in FAP family do not share a common D5S82 allele. Conclusion: A CA-repeat polymorphism offers improved diagnostic sensitivity for FAP/GS compared with RFLP DNA marker. But for the more accurate presymptomatic diagnosis, CA ? repeat. markers, more highly polymorphic and closer to the APC gene are preferable.
Probe EF 5.44 를 이용한 가족성선종성용종증 ( FAP ) 과 Gardner 증후군 ( GS ) 가계의 Linkage Analysis
김효종(H . J . Kim),김영관(Y . K . Kim),동석호(S . H . Dong),김병호(B . H . Kim),이정일(J . I . Lee),장영운(Y . W . Chang),장린(R . Chang),최영길(Y . K . Choi),이기형(K . H . Lee) 대한내과학회 1993 대한내과학회지 Vol.45 No.3
N/A Background: Familial adenomatous polyposis (FAP) and Gardner's syndrome (GS) are conditions, inherited in an autosomal dominant fashion, that predispose affected family members to the development of colorectal cancer. The gene(s) responsible for FAP/GS is on the chromosome 5q21-22. Several RFLP markers for the chromosome 5q21-22 region are now available and can be used clinically for premobid diagnosis in affected FAP/GS family members. Probe EF5.44 is an RFLP marker that is tightly linked (Lod Score>3.0) to the FAP/GS locus. Methods: In FAP family, 10 mL of peripheral blood was sampled from the index case, his parents, brother and sister, and his wife and children. In GS family, similiar amount of blood was sampled from the index case, his wife and children. DNA was purified and five micrograms of each DNA was digested with restriction enzyme Msp I, and Southern blotting and hybridization using the probe EF5.44 were performed. Results: Probe EF 5.44 yielded only one band of 2.0 Kb without RFLP in al1 FAP/GS family members of this studay. Conclusion: Probe EF5.44 was found to be uninformative in both FAP/GS family members of this study. These results reveal that linked DNA probe has several limitations due to it's inherent low heterozygosity and so new DNA markers, such as microsatellite VNTRs, are preferable for genetic linkage analysis.