Frax
Mostrando 13-24 de 29 artigos, teses e dissertações.
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13. Diretrizes para prevenção e tratamento da osteoporose induzida por glicocorticoide
Os glicocorticoides (GC) são prescritos por praticamente todas as especialidades médicas, e cerca de 0,5% da população geral do Reino Unido utiliza esses medicamentos. Com o aumento da sobrevida dos pacientes com doenças reumatológicas, a morbidade secundária ao uso dessa medicação representa um aspecto importante que deve ser considerado no manejo
Revista Brasileira de Reumatologia. Publicado em: 2012-08
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14. Avaliação da remodelação óssea: um bom marcador substituto?
O método mais utilizado para avaliação do risco de fraturas é a densitometria óssea pela técnica de DXA (absorciometria por raios-X duo-energética). A pesquisa de condições clínicas de risco também é recomendada e fornece uma estimativa da probabilidade de fratura em 10 anos (modelo FRAX). Outro fator importante é o grau de remodelação óssea.
Arquivos Brasileiros de Endocrinologia & Metabologia. Publicado em: 2010-03
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15. FRAX TM: construindo uma ideia para o Brasil
Diferenças genéticas, raciais e antropométricas, bem como da composição corporal, densidade óssea, dieta, atividade física e outros hábitos de vida, contribuem para explicar as divergências na incidência e prevalência de baixa densidade óssea e fraturas em diversos países do mundo. Recentemente, foi desenvolvida uma ferramenta, denominada FRAX T
Arquivos Brasileiros de Endocrinologia & Metabologia. Publicado em: 2009-08
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16. Frontostriatal deficits in fragile X syndrome: Relation to FMR1 gene expression
Fragile X syndrome (fraX) is the most common known cause of inherited developmental disability. fraX is associated with a CGG expansion in the FMR1 gene on the long arm of the X chromosome. Behavioral deficits, including problems with impulse control and distractibility, are common in fraX. We used functional brain imaging with a Go/NoGo task to examine the
National Academy of Sciences.
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17. The fragile X syndrome: no evidence for any recent mutations.
Fragile X (fra(X)) syndrome, the most common form of familial mental retardation, is caused by heritable unstable DNA composed of CGG repeats. As reproductive fitness of fra(X) patients is severely compromised, a high mutation rate has been proposed to explain the high prevalence. However, we have been unable to show any new mutation for 84 probands referred
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18. Intelligence and cognitive profile in the fra(X) syndrome: a longitudinal study in 18 fra(X) boys.
A longitudinal study of IQ and cognitive profile in 18 fra(X) positive boys is reported. At the time of diagnosis, four of the boys were mildly retarded, seven were moderately retarded, and five were severely mentally retarded. Intelligence was borderline in one child and normal in another. A decline in intellectual performance with age in the fra(X) syndrom
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19. Fragile Xq27.3 in female heterozygotes for the Martin-Bell syndrome.
X inactivation studies have been carried out on lymphocytes from eight unrelated females heterozygous for the Martin-Bell syndrome. Four of these carriers were of normal IQ and four were mentally handicapped. When BrdU was used to differentiate between the active and inactive X chromosome an average of 55% of fra(X) were active in the retarded subjects, but
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20. Frequent small amplifications in the FMR-1 gene in fra(X) families: limits to the diagnosis of 'premutations'.
In five of 40 fra(X) families reinvestigated using the new intragenic probe StB12.3, small amplifications of the DNA fragment appeared unexpectedly in addition to the mutations found in the probands. This suggests that enlargements of the FMR-1 gene detectable by Southern blotting using this probe must be present at an appreciable frequency in the general po
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21. Selection and use of a method for the culture of blood leucocytes to reveal the fra(x) site.
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22. The fragile X syndrome in a large family. III. Investigations on linkage of flanking DNA markers with the fragile site Xq27.
In a large family with the fragile X syndrome, we performed linkage investigations with six probes, detecting RFLPs at both sides of the fragile site Xq27. The nearest flanking markers were cX55.7 (DXS105) on the centromeric side (theta = 0.04, lod 5.0) and St14 (DXS52) on the telomeric side (theta = 0.08, lod 4.0). Non-penetrance could be shown by the prese
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23. The fragile X syndrome in a large family. II. Psychological investigations.
Intelligence levels and intelligence profiles were investigated in 52 members of a large family with the fragile X syndrome. The mental abilities were evaluated by the three Wechsler intelligence tests (WAIS, WISC-R, and WPPSI). Chromosomal and psychological data were then compared. In 22 non-retarded fra(X) negative family members, a mean IQ of 102 was foun
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24. Demonstration of the fra(X) in lymphocytes, fibroblasts, and bone marrow in a patient with a testicular tumour.
A man aged 34, whose mental retardation and appearance were consistent with the fra(X)(q28) syndrome, had a craggy lump in his left testis. The fragile X was found in lymphocytes, fibroblasts, and bone marrow. The testicular tumour was benign and inflammatory in nature and within the testis spermatogenesis was absent.