RESUMEN
BACKGROUND: To establish the contribution of eight founder alleles in three DNA damage repair genes (BRCA1, CHEK2 and NBS1) to prostate cancer in Poland, and to measure the impact of these variants on survival among patients. METHODS: Three thousand seven hundred fifty men with prostate cancer and 3956 cancer-free controls were genotyped for three founder alleles in BRCA1 (5382insC, 4153delA, C61G), four alleles in CHEK2 (1100delC, IVS2+1G>A, del5395, I157T), and one allele in NBS1 (657del5). RESULTS: The NBS1 mutation was detected in 53 of 3750 unselected cases compared with 23 of 3956 (0.6%) controls (odds ratio (OR)=2.5; P=0.0003). A CHEK2 mutation was seen in 383 (10.2%) unselected cases and in 228 (5.8%) controls (OR=1.9; P<0.0001). Mutation of BRCA1 (three mutations combined) was not associated with the risk of prostate cancer (OR=0.9; P=0.8). In a subgroup analysis, the 4153delA mutation was associated with early-onset (age ≤ 60 years) prostate cancer (OR=20.3, P=0.004). The mean follow-up was 54 months. Mortality was significantly worse for carriers of a NBS1 mutation than for non-carriers (HR=1.85; P=0.008). The 5-year survival for men with an NBS1 mutation was 49%, compared with 72% for mutation-negative cases. CONCLUSION: A mutation in NBS1 predisposes to aggressive prostate cancer. These data are relevant to the prospect of adapting personalised medicine to prostate cancer prevention and treatment.
Asunto(s)
Proteínas de Ciclo Celular/genética , Proteínas Nucleares/genética , Neoplasias de la Próstata/genética , Neoplasias de la Próstata/mortalidad , Adulto , Anciano , Anciano de 80 o más Años , Proteína BRCA1/genética , Biomarcadores de Tumor/genética , Quinasa de Punto de Control 2 , Genes BRCA1 , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Estimación de Kaplan-Meier , Masculino , Persona de Mediana Edad , Mutación , Pronóstico , Proteínas Serina-Treonina Quinasas/genéticaRESUMEN
Computer assisted image analysis is used for qualitative assessment of radiographs more and more often. The aim of this study was to define a method enabling objective assessment of changes in bone structure, using standard radiographs during limb elongation. Application of such analysis for assessment of bone and regenerate during limb elongation is described. The method of estimation of the obtained results is also presented. The obtained results encourage the authors to continue their studies, so as to make objective assessment of bone using standard radiographs a common method.
Asunto(s)
Alargamiento Óseo , Diferencia de Longitud de las Piernas/diagnóstico por imagen , Diferencia de Longitud de las Piernas/terapia , Intensificación de Imagen Radiográfica/métodos , Regeneración Ósea , Humanos , Técnica de Ilizarov , Diferencia de Longitud de las Piernas/fisiopatologíaRESUMEN
Various possibility of computerized analysis of radiographic image of bone and joint are presented. The principle of digital image recording and processing are described. Practical application of computer programs of bone structure analysis and measurement of joint width using image analysis procedure are presented.