985 resultados para genotype distribution
Resumo:
Colorectal cancer is one of the most frequent neoplasms and an important cause of mortality in the developed world. Mendelian syndromes account for about 5% of the total burden of CRC, being Lynch syndrome and familial adenomatous polyposis the most common forms. Lynch syndrome tumors develop mainly as a consequence of defective DNA mismatch repair associated with germline mutations in MLH1, MSH2, MSH6 and PMS2. A significant proportion of variants identified by screening these genes correspond to missense or noncoding changes without a clear pathogenic consequence, and they are designated as "variants of uncertain significance'', being the c.1852_1853delinsGC (p.K618A) variant in the MLH1 gene a clear example. The implication of this variant as a low-penetrance risk variant for CRC was assessed in the present study by performing a case-control study within a large cohort from the COGENT consortium-COST Action BM1206 including 18,723 individuals (8,055 colorectal cancer cases and 10,668 controls) and a case-only genotype-phenotype correlation with several clinical and pathological characteristics restricted to the Epicolon cohort. Our results showed no involvement of this variant as a low-penetrance variant for colorectal cancer genetic susceptibility and no association with any clinical and pathological characteristics including family history for this neoplasm or Lynch syndrome.
Resumo:
By introducing the scattering probability of a subsurface defect (SSD) and statistical distribution functions of SSD radius, refractive index, and position, we derive an extended bidirectional reflectance distribution function (BRDF) from the Jones scattering matrix. This function is applicable to the calculation for comparison with measurement of polarized light-scattering resulting from a SSD. A numerical calculation of the extended BRDF for the case of p-polarized incident light was performed by means of the Monte Carlo method. Our numerical results indicate that the extended BRDF strongly depends on the light incidence angle, the light scattering angle, and the out-of-plane azimuth angle. We observe a 180 degrees symmetry with respect to the azimuth angle. We further investigate the influence of the SSD density, the substrate refractive index, and the statistical distributions of the SSD radius and refractive index on the extended BRDF. For transparent substrates, we also find the dependence of the extended BRDF on the SSD positions. (c) 2006 Optical Society of America.
Resumo:
The far-field intensity distribution (FFID) of a beam generated by a phase-unifying mirror resonator was investigated based on scalar diffraction theory. Attention was paid to the parameters, such as obscuration ratio and reflectivity of the phase-unifying mirror, that determine the FFID. All analyses were limited to the TEM00 fundamental mode. (c) 2005 Optical Society of America.
Resumo:
The far-field intensity distribution of hollow Gaussian beams was investigated based on scalar diffraction theory. An analytical expression of the M-2 factor of the beams was derived on the basis of the second-order moments. Moreover, numerical examples to illustrate our analytical results are given. (c) 2005 Optical Society of America.
Resumo:
Based on scalar diffraction theory, we investigated far-field intensity distribution (FFID) of beam generated by Gaussian mirror resonator. We found usable analytical expressions of diffracted field with respect to variation of diffraction parameters. Particular attention was paid to the parameters such as mirror spot size and radius of the Gaussian mirror, which determine the FFID. All analyses were limited to TEM00 fundamental mode. (c) 2004 Elsevier B.V. All rights reserved.
Resumo:
From several sources of data, the authors study seasonal variations of larval abundance for five species of tuna in Eastern Tropical Atlantic and its relation to the hydrological conditions. Distributional maps and TS graphs are given.
Resumo:
We investigated M-2 factor and far-field distribution of beams generated by Gaussian mirror resonator. And we found usable analytical expressions of the M2 factor and the far-field distribution intensity with respect to variation of diffraction parameters. Particular attention was paid to the parameters such as mirror spot size and reflectance of the Gaussian mirror. (c) 2006 Elsevier GrnbH. All rights reserved.
Resumo:
Electric field distributions inside resonant reflection filters constructed using planar periodic waveguides are investigated in this paper. The electric fields may be intensified by resonance effects. Although the resonant reflection peaks can be quite narrow using weakly modulated planar periodic waveguides, the strong electric field enhancement limits their use in high-power laser systems. Strongly modulated waveguides may be used to reduce the electric field enhancement and a cover layer may be used to narrow the bandwidth at the same time. Desired results (i.e. almost no electric field enhancement together with narrow bandwidth) can be realized using this simple structure.
Resumo:
Distribution, movements, and habitat use of small (<46 cm, juveniles and individuals of unknown maturity) striped bass (Morone saxatilis) were investigated with multiple techniques and at multiple spatial scales (surveys and tag-recapture in the estuary and ocean, and telemetry in the estuary) over multiple years to determine the frequency and duration of use of non-natal estuaries. These unique comparisons suggest, at least in New Jersey, that smaller individuals (<20 cm) may disperse from natal estuaries and arrive in non-natal estuaries early in life and take up residence for several years. During this period of estuarine residence, individuals spend all seasons primarily in the low salinity portions of the estuary. At larger sizes, they then leave these non-natal estuaries to begin coastal migrations with those individuals from nurseries in natal estuaries. These composite observations of frequency and duration of habitat use indicate that non-natal estuaries may provide important habitat for a portion of the striped bass population.
Resumo:
Little is known about the seasonality and distribution of grouper larvae (Serranidae: Epinephelini) in the Gulf of Mexico and Atlantic Ocean off the coast of the southeast United States. Grouper larvae were collected from a transect across the Straits of Florida in 2003 and 2004 and during the Southeast Area Monitoring and Assessment Program spring and fall surveys from 1982 through 2005. Analysis of these larval data provided information on location and timing of spawning, larval distribution patterns, and interannual occurrence for a group of species not easily studied as adults. Our analyses indicated that shelf-edge habitat is important for spawning of many species of grouper—some species for which data were not previously available. Spawning for some species may occur year-round, but two peak seasons are evident: late winter and late summer through early fall. Interannual variability in the use of three important subregions by species or groups of species was partially explained by environmental factors (surface temperature, surface salinity, and water depth). A shift in species dominance over the last three decades from spring-spawned species (most of the commercial species) to fall-spawned species also was documented. The results of these analyses expand our understanding of the basic distribution and spawning patterns of northwest Atlantic grouper species and indicate a need for further examination of the changing population structure of individual species and species dominance in the region.