15,806 research outputs found
Three dimensional Lifshitz black hole and the Korteweg-de Vries equation
We consider a solution of three dimensional New Massive Gravity with a
negative cosmological constant and use the AdS/CTF correspondence to inquire
about the equivalent two dimensional model at the boundary. We conclude that
there should be a close relation with the Korteweg-de Vries equation.Comment: 4 page
Organização da diversidade de acessos de mandioca com alta similaridade genética com base em marcadores SNPs e microssatélites.
O fato de a mandioca (Manihot esculenta Crantz) ser uma planta nativa do Brasil e a ampla gama de locais de cultivo no país amplificam a diversidade fenotípica observada nos acessos de germoplasma desta espécie. Por outro lado, muitos nomes são dados a um mesmo genótipo e ao mesmo tempo diferentes acessos possuem um mesmo nome
Development and validation of a multiplex-PCR assay for X-linked intellectual disability
BACKGROUND:
X-linked intellectual disability is a common cause of inherited cognitive deficit affecting mostly males. There are several genetic causes implicated in this condition, which has hampered the establishment of an accurate diagnosis. We developed a multiplex-PCR assay for the mutational hotspot regions of the FMR1, AFF2 and ARX genes.
METHODS:
The multiplex-PCR was validated in a cohort of 100 males selected to include known alleles for the FMR1 repetitive region: five full mutations (250-650 CGGs), ten premutations (70-165 CGGs) and eighty-five in the normal range (19-42 CGGs). Sequencing or Southern blotting was used to confirm the results, depending on the allele class. In this cohort, with the exception of one sample showing an AFF2 intermediate-sized allele, all other samples were normal (8-34 CCGs). No ARX variant was found besides the c.429_452dup. The validated assay was applied to 5000 samples (64.4% males and 35.6% females).
RESULTS:
The normal-allelic range of both FMR1 and AFF2 genes as well as the nature of ARX variants identified was similar in both genders. The rate of homozygosity observed in female samples, 27.5% for FMR1 and 17.8% for AFF2 alleles, is comparable to that published by others. Two FMR1 premutations were identified, in a male (58 CGGs) and a female case [(CGG)(47)/(CGG)(61)], as well as several FMR1 or AFF2 intermediate-sized alleles. One AFF2 premutation (68 CCGs) and two putative full expansions were picked up in male subjects, which seems relevant considering the rarity of reported AFF2 mutations found in the absence of a family history.
CONCLUSIONS:
We developed a robust multiplex-PCR that can be used to screen the mutational hotspot regions of FMR1, AFF2 and ARX genes. Moreover, this strategy led to the identification of variants in all three genes, representing not only an improvement in allele-sizing but also in achieving a differential diagnosis. Although the distinction between females who are truly homozygous and those with a second pre- or full mutation sized allele, as well as a definitive diagnosis, requires a specific downstream technique, the use of this multiplex-PCR for initial screening is a cost-effective approach which widens the scope of detection
Desenvolvimento de revestimentos poliméricos para liberação controlada de ureia.
Entrada padronizada: RIBEIRO, C
Suppression of Anderson localization of light and Brewster anomalies in disordered superlattices containing a dispersive metamaterial
Light propagation through 1D disordered structures composed of alternating
layers, with random thicknesses, of air and a dispersive metamaterial is
theoretically investigated. Both normal and oblique incidences are considered.
By means of numerical simulations and an analytical theory, we have established
that Anderson localization of light may be suppressed: (i) in the long
wavelength limit, for a finite angle of incidence which depends on the
parameters of the dispersive metamaterial; (ii) for isolated frequencies and
for specific angles of incidence, corresponding to Brewster anomalies in both
positive- and negative-refraction regimes of the dispersive metamaterial. These
results suggest that Anderson localization of light could be explored to
control and tune light propagation in disordered metamaterials.Comment: 4 two-column pages, 3 figure
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