2 resultados para Growth disorders -- Genetic aspects

em Cambridge University Engineering Department Publications Database


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OBJECTIVE: To examine the role of androgens on birth weight in genetic models of altered androgen signalling. SETTING: Cambridge Disorders of Sex Development (DSD) database and the Swedish national screening programme for congenital adrenal hyperplasia (CAH). PATIENTS: (1) 29 girls with XY karyotype and mutation positive complete androgen insensitivity syndrome (CAIS); (2) 43 girls and 30 boys with genotype confirmed CAH. MAIN OUTCOME MEASURES: Birth weight, birth weight-for-gestational-age (birth weight standard deviation score (SDS)) calculated by comparison with national references. RESULTS: Mean birth weight SDS in CAIS XY infants was higher than the reference for girls (mean, 95% CI: 0.4, 0.1 to 0.7; p=0.02) and was similar to the national reference for boys (0.1, -0.2 to 0.4). Birth weight SDS in CAH girls was similar to the national reference for girls (0.0, -0.2 to 0.2) and did not vary by severity of gene mutation. Birth weight SDS in CAH boys was also similar to the national reference for boys (0.2, -0.2 to 0.6). CONCLUSION: CAIS XY infants have a birth weight distribution similar to normal male infants and birth weight is not increased in infants with CAH. Alterations in androgen signalling have little impact on birth weight. Sex dimorphism in birth size is unrelated to prenatal androgen exposure.

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Large, single grain Nd-Ba-Cu-O (NdBCO) composite samples of NdBa2Cu3O7-δ (Nd-123) containing 15 and 20 mol. % non-superconducting Nd4Ba2Cu2O10 (Nd-422) phase inclusions have been fabricated successfully by a variety of techniques based on top-seeded melt growth under reduced oxygen partial pressure. Specifically, individual grains up to 2cm in diameter have been grown using (100) oriented MgO seeding, self (NdBCO) seeding at elevated temperature and self-seeding of Ag and Au doped precursor pellets. The latter exhibit a reduced peritectic decomposition temperature compared with the undoped compound. These techniques, which vary in degree of difficulty and hence reliability, yield grains with a range of microstructural homogeneity. This paper describes the general aspects of large NdBCO grain fabrication and presents the results of the different fabrication techniques.