9 research outputs found

    Microstructure and magnetization of doped Y-Ba-Ca-O materials prepared by melt quench and post annealing method

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    Y-Ba-Cu-O bulk materials prepared using the melt quench and post annealing method were shown to have very high maximum as well as remanent magnetization. Studies were carried out on materials prepared using this method which deviate from the Y:Ba:Cu = 1:2:3 stoichiometry. In one series of materials, only the stoichiometry was changed, in particular by introducing an excess of yttrium. In other cases, dopants including several rare earths were introduced. Effects of variations in composition on microstructure and phase evolution are discussed, as well as effects on the magnetic susceptibility and on the magnetization. The results show that doped materials can exhibit improvements in magnetic properties. Furthermore, the use of dopants sheds light on the role of defect sites in flux pinning

    Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect (PDAC) syndrome due to STRA6 mutations--what are the minimal criteria?

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    Microphthalmic syndrome 9 (OMIM601186) is a genetically and phenotypically variable condition, comprising anophthalmia, pulmonary hypoplasia, diaphragmatic hernia, and cardiac malformations (PDAC syndrome). Reported cases have all been associated with fetal/neonatal death or developmental delay. Recessive stimulated by retinoic acid gene 6 homolog (STRA6) mutations have recently been identified as the cause of cases of PDAC in which distinct, "bushy" eyebrows have been observed. We describe a patient with clinical anophthalmia, bushy eyebrows, patent ductus arteriosus, and normal development at age 30 months, who is a compound heterozygote for two novel STRA6 missense mutations. This patient's phenotype is consistent with the multisystemic malformations of PDAC syndrome, but is somewhat milder. This is the first living patient with compound heterozygous STRA6 mutations, which may explain her milder phenotype. We conclude that STRA6 analysis should be considered in all patients with clinical anophthalmia. Genetic counseling should be cautious with respect to long-term developmental outcomes

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