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류마티스 관절염환자와 골관절염환자의 요중 Hydroxypyridinium Crosslinks 의 측정과 임상적 유용성에 관하 연구
정성광(Sung Kwang Jung),이윤우(Yun Woo Lee),신보문(Bo Moon Shin),김종원(Jong Won Kim) 대한내과학회 1997 대한내과학회지 Vol.53 No.2
N/A Objectives: To evaluate the urinary concentrations of hydroxyridinium crosslinks of collagen in patients with osteoarthritis(OA) or rheumatoid arthritis(RA), and to compare its clinical correlation with the classic indices of the disease activity of RA. Methods: Concentrations of urinary pyridinoline (Pyd) and deoxypyridinoline(Dpd) were measured in urinary samples collected from 18 control patients, 35 patients with OA, 45 patients with RA by competitive enzyme immunoassay using microplate coated with monoclonal antibody. Results: 1) Mean urinary concentrations of Pyd in OA patients were 33.5nmol/mmol creatinine, in RA patients were 50.0nmol/mmol creatinine which were higher than the values in controls (25.1 nmol/mmol creatinine). Also, mean concentrations of Dpd in OA patients were 9.2nmol/mmol creatinine, in RA patients were 10.1nmol/mmol creatinine which were higher than the values in controls(5.6nmol/mmol creatinine)(p<0.01). 2) Mean urinary concentration of Pyd was 50.0 nmol/mmol creatinine in RA patients, which was significantly higher than the values in OA(33.5 nnmol/mmol creatinine)(p<0.05), but the mean Dpd concentratians were not significantly different between the two groups. 3) The concentrations of urinary Pyd in RA patients was significantly correlated with the biologic markers indicating inflammatory activity such as ESR(r=0.68, p<0.001), CRP(r=0.72, p<0.001) and the number of tender joint(r=0.66, p<0.01) Conclusion : Urinary concentrations of Pyd and Dpd were significantly higher in OA and RA patients than in controls, Especially urinary Pyd concentrations were significantly increased in RA patients than in OA patients, and strongly correlated with disease activity index of rheumatoid arthritis. The mean Dpd concentration, bone specific analogue, in RA patients was not significantly different from that of OA patients and it was not correlated with disease activity index Thus measurement of urinary Pyd might provide a sensitive, noninvasive biochemical marker for studying activity of RA.
가족적으로 발생한 쿠싱증후군 : 색소침착성 다결절성 부신피질 이형성증 3 예
정성광,김신우,서인수,장세국,박윤규,김법완,손윤경,김보완,서예경,김정국,하승우,곽정식 대한내과학회 1995 대한내과학회지 Vol.49 No.2
Pigmented multinodular adrenocortical dysplasia is a rare cause of Cushing's syndrome in infants, children and young adults. The disease is characterized by an ACTH independent adrenocortical hyperfunction without autonomously functioning adrenocortical neoplasm. Clinical symptoms are features of Cushing's syndrome and spotty facial pigmentation (lentigines and blue nevi). The biochemical findings include: 1) no suppression of urinary corticosteroid excretion after administration of dexamethasone. 2) no response to metyrapone or ACTH administraion; and 3) undetectable, low, or normal plasma levels of ACTH. Adrenal glands are normal or slightly enlarged and may or may not have discernible nodules on computed tomography scans. Bilateral total adrenalectomy cures the Cushing's syndrome. The familial occurrence, especially when to be found in combination with extra adrenal disorders, was considered indicative of 'Carney's complex'. Recently we experienced 3 cases of Cushing's syndrome due to pigmented multinodular adrenocortical dysplasia in one family, so we report the cases with a review of literatures.
김법완,권태균,노기석,정성광,장세국,정운복,김정완 경북대학교 병원 1997 경북대학교병원의학연구소논문집 Vol.1 No.1
The objective of this study was to characterise the pattern of p53 mutations in bladder turmor. In this study, 25 bladder transitional cell carcinomas were analyed by immunohistochemistry (IHC) for p53 nuclear overexpression, and the results were compared with those of polymerase chain reaction-single strand conformational polymorphism (PCR-SSCP) analysis in exon 5-8 of the p53 gene and DNA sequencing analysis. 15 out of 20 cases (75%) showed p53 nuclear immunoreactivities on IHC. On PCR-SSCP analysis, 10 out of 25 cases(40%) had abnormal shifts on mobility. 62% of the mutations were in exon 8. Direct DNA sequencing analysis were performed in these 10 cases to confirm the presence of mutated p53 genes and to determine the type of mutations. Sixteen point mutations were detected in 10 cases. Tow specimens had double mutations and another two had triple mutations. G:C→A:T transitions were the most frequent patterns (62.5%). One mutation was a premature stop codon and two were silent mutations. There out of 10 had a point mutation at codon 285 (GAG/Glu→AAG/Lys) and two had at codon 280(GAG/Glu→AAG/Lys). One of 16 mutations was transition at hot spot codon 273 with CpG site. These results suggest that altered expressions and point mutations of p53 occured in all grade of bladder cancer, but are more associated with hight grade bladder tumors. To elucidate the carcinogenesis of bladder cancer, further studies should be carried out.
방광이행세포암종에서 종양억제유전자 부위의 Microsatellite Instability와 p53 유전자의 돌연변이 분석
권태균,정성광,김법완,김진아,김정완 경북대학교 병원 2001 경북대학교병원의학연구소논문집 Vol.5 No.1
Purprose: The objectives of this study is to eveluate the role of microsatellite instability(MI) and p53 gene inactivation in transitional cell carcinoma(TCC) of the bladder. Meterials and Methods: TOtal 31 cases of TCC patients, not treated with radiation or anticancer chemotherapy, were included in this study.Fifteen out of 31 patients were superficial and 16 were invasive TCC according to pathologic stage, while 16 were low grade and 15 were high grade TCC according to Ash grading system.The presence of MI was investigated in 3 loci of 9p site(D9S162, IFNA,D9S1747), and 6 loci of 17p site(D17S261, D17S513, D17S654, D17S695,D17S796, TP53) using a method based on the polymerase chain reaction(PCR).And the p53 point mutations were detected using polymerase chain reaction-single stranded conformation polymorphism(PCR-SSCP)analysis.The p53 protein overexpression was determined by immunohistochemical stain using DO-7 parimary antibody on formalin fixed, paraffin embedded tissue sections. Results: On MI anaylsis, altered band pattern were detected in 16 of 31 case (51.6%) in 9p region and 15 of 31 cases(48.4%) in 17p region.MI of the 9p region showed no association with tumor grade or stage.MI of the 17p site also showed no difference between superficial and invasive tumor group,but were higher in high grade(73.3%) than low grade tumor group(25.0%).On PCR-sscp analysis, total 8 mutations were found in 6 cases(19.4%) and 4 of 8 mutations (50%) were at exon 8.On immunohchemical staining, p53 nuclear overexpressions were found in 18 cases(58.1%)and more common in high grade and invasive tumor group(p<0.05). Fifteen out of 18 cases(83.3%) showed MI of the 9p or 17p regions. Conclusions: These results suggest that the p16 alterations may associated with high grade/invasive tumor.And DNA mismatch repair system may play an important role in tumorigenesis of bladder tumor.MI analysis can be a useful method to detect early genetic alterations in transitional cell carainoma of the bladder.(Korean J Urol 1999;40:1449~58)