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RISS 인기검색어
- 검색키워드
- 저자 : ( Marcin Cybulski ) (검색결과 3 건)
- 무료
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Marcin R. Lener,Aniruddh Kashyap,Wojciech Kluzniak,Cezary Cybulski,Agnieszka Soluch,Sandra Pietrzak,Tomasz Huzarski,Jacek Gronwald,Jan Lubinski 대한암학회 2017 Cancer Research and Treatment Vol.49 No.2
Purpose Familial pancreatic cancer describes families with at least two first-degree relatives with pancreatic cancer that do not fulfil the criteria of other inherited tumor syndromes with increased risks of pancreatic cancer. Although much has been learned regarding the aggregation of pancreatic cancer in some families, the genetic basis for this familial aggregation is poorly understood. This study evaluated the prevalence of 10 Polish founder mutations in four genes among individuals from families with diagnosed familial pancreatic cancer syndrome and assessed their possible association with the familial pancreatic cancer (FPC) risk in Poland. Materials and Methods In this study, 400 FPC individuals and 4,000 control subjects were genotyped for founder mutations in BRCA1 (5382insC, 4153delA, C61G), CHEK2 (1100delC, IVS2+1G>A, del5395, I157T), NBS1 (657del5), and PALB2 (509_510delGA, 172_175delTTGT) genes. Results A statistically significant association was observed between the 172_175delTTGT mutation of the PALB2 gene and an increased risk of FPC syndrome (odds ratio [OR], 10.05; p=0.048). In addition, an increased risk of cancer was observed in the FPC family members with a BRCA1 mutation (OR, 6.72; p=0.006). Novel associations were found between the FPC family members with cancer and CHEK2mutations (OR, 2.26; p=0.008) with a noticeable contribution of the missense variant, I157T of CHEK2 (OR, 2.17; p=0.026). Conclusion The founder mutations in the genes, BRCA1, PALB2, and CHEK2, cause a small percentage of familial pancreatic cancer syndrome in the Polish population. Following confirmation in larger studies, these mutations can be added to the panel of genes to be tested in families with a diagnosis of FPC syndrome.
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Stressful Events and Serum Concentration of Substance P in Acne Patients
( Anita Rokowska Waluch ),( Mariola Pawlaczyk ),( Marcin Cybulski ),( Jakub Zurawski ),( Mariusz Kaczmarek ),( Michał Michalak ),( Ewa Mojs ) 대한피부과학회 2016 Annals of Dermatology Vol.28 No.4
Background: Psychological stress is an important factor of acne pathogenesis. Stress related production of hormones, cytokines and neuropeptides may result in the chronic course and exacerbations of the disease. Objective: The aim of the study was to evaluate the relationship between acne severity, intensity of emotional stress and serum concentration of substance P (scSP), to compare the intensity of adversities, psychological stress and scSP in acne patients with healthy controls and to compare coping techniques for stress. Methods: The study consisted of 80 patients. Emotional stress was analyzed with the use of social readjustment rating scale, whereas the methods of coping with stress were assessed with the coping inventory for stressful situation questionnaire. The blood concentration of substance P was analyzed by enzyme-linked immunosorbent assay method in a group of 40 patients with acne vulgaris and in control subjects. Results: There was no statistically significant difference between the severity of acne and the intensity of stress. Acne patients presented a higher average scSP than the controls. No statistically significant correlation was observed between the severity of acne and scSP; however, the intensity of stress correlated with scSP in the control group. The evaluation of methods of coping with stress showed significantly higher rate for the avoidance-oriented coping among acne patients. Conclusion: The number of stressful events is not a factor that determines the severity of acne. The course of the disease may depend on tolerance to stress and methods of coping with stress. (Ann Dermatol 28(4) 464∼469, 2016)
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Tadeusz Debniak,Rodney J Scott,Rodney A Lea,Bohdan Górski,Bartlomiej Masojc,Cezary Cybulski,Andrzej Kram,Romuald Maleszka,Tomasz Gromowski,Katarzyna Paszkowska-Szczur,Aniruddh Kashyap,Marcin R. Lener 대한암학회 2019 Cancer Research and Treatment Vol.51 No.1
Purpose Germline mutations within melanoma susceptibility genes are present only in minority of melanoma patients and it is expected that additional genes will be discovered with next generation sequence technology and whole-exome sequencing (WES). Materials and Methods Herein we performed WES on a cohort of 96 unrelated Polish patients with melanoma diagnosed under the age of 40 years who all screened negative for the presence of CDKN2Avariants. A replication study using a set of 1,200 melanoma patient DNA samples and similarly large series of healthy controls was undertaken. Results We selected 21 potentially deleterious variants in 20 genes (VRK1, MYCT1, DNAH14, CASC3, MS4A12, PRC1, WWOX, CARD6, EXO5, CASC3, CASP8AP2, STK33, SAMD11, CNDP2, CPNE1, EFCAB6, CABLES1, LEKR1, NUDT17, and RRP15), which were identified by WES and confirmed by Sanger sequencing for an association study. Evaluation of the allele distribution among carriers and their relatives in available family trios revealed that these variants were unlikely to account for many familial cases of melanoma. Replication study revealed no statistically significant differences between cases and controls. Conclusion Although most of the changes seemed to be neutral we could not exclude an association between variants in VRK1, CREB3L3, EXO5, and STK33 with melanoma risk.
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