16 research outputs found

    Gamma phonons and microscopic structure of orthorhombic KNbO3 from first-principles calculations

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    {}From a series of total energy calculations by the full-potential linear muffin-tin orbital method, the total energy hypersurface as function of atomic displacements from equilibrium positions has been fitted for different Gamma phonon modes in orthorhombic KNbO3. Frequencies and eigenvectors of all TO Gamma phonons have been calculated in the harmonic approximation, and in the quantum oscillator scheme -- for A2 and B2 modes. The microscopic structure of the orthorhombic phase has been analyzed in a series of supercell calculations for different patterns of Nb displacements, providing indications in favour of the chain structure, with oppositely directed neighboring chains.Comment: 10 pages, including 3 LaTeX figure

    Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome.

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    International audienceThe hereditary stomatocytoses are a series of dominantly-inherited hemolytic anemias in which the permeability of the erythrocyte membrane to monovalent cations is pathologically increased. The causative mutations for some forms of hereditary stomatocytosis have been found in the transporter protein genes, RHAG and SLC4A1. Glut1 deficiency syndromes (glut1DS) result from mutations in SLC2A1, encoding glucose transporter 1 (glut1). Glut1 is the major glucose transporter in the mammalian blood-brain barrier and glut1DS are manifested by an array of neurological symptoms. We have previously reported two cases of stomatin-deficient cryohydrocytosis (sdCHC), a very rare form of stomatocytosis associated with a cold-induced cation leak, hemolytic anemia and hepatosplenomegaly but also with cataracts, seizures, mental retardation and movement disorder. We now show that sdCHC is associated with mutations in SLC2A1 that cause both loss of glucose transport and a cation leak, as shown by expression studies in Xenopus oocytes. Based on a 3D model of glut1, we propose potential mechanisms underlying the phenotypes of the two mutations found. We investigated the loss of stomatin during erythropoiesis and find this occurs during reticulocyte maturation and involves endocytosis. The molecular basis of the glut1DS, paroxysmal exercise-induced dyskinesia (PED) and sdCHC phenotypes are compared and discussed

    Peso à cobrição e ganho de peso durante a gestação de cabras nativas, exóticas e mestiças no semi-árido Mating weight and weight gain during gestation of native, exotic and crossbred goats in the semi-arid

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    Avaliaram-se os efeitos de mês, ano, ordem de parto e tipo de parto sobre o peso à cobrição (PC) e o ganho de peso durante a gestação (GP), respectivamente, de 753 e 527 cabras nativas Canindés, 463 e 333 cabras exóticas Anglo-nubianas, 374 e 296 Alpinas, 151 e 87 de mestiças ½ Alpina (A) ½ Sem Raça Definida (SRD), 92 e 73 ¾ Alpina (A) ¼ SRD, criadas na Estação Experimental de Pendência - EMEPA-PB, Soledade-PB, na microrregião semi-árida da Paraíba, em regime semi-intensivo, no período de 1980 a 1994. O mês foi significativo sobre os pesos à cobrição das matrizes Canindés, Anglo-nubianas, ½ A ½ SRD e ¾ A ¼ SRD. O ano influenciou o PC de todos os grupos genéticos. O efeito do ano sobre o GP foi significativo para as cabras Canindés, Anglo-nubianas, ½ A ½ SRD e Alpinas. O peso à cobrição elevou-se com o aumento da ordem de parto e o GP foi mais evidente entre as cabras de primeiro parto. O tipo de parto foi significativo sobre o GP das matrizes nubianas, ¾ A ¼ SRD e Alpina, que tiveram maiores ganhos quando pariram apenas um cabrito. A raça influenciou o PC e o GP de todas as matrizes. A raça nativa foi a mais leve e com o melhor ganho de peso; as exóticas, as mais pesadas e com GP inferiores aos da raça Canindé e da mestiça ½ A ½ SRD; e a mestiça ¾ A ¼ SRD, a raça com peso corporal (PC) e GP semelhantes às exóticas. Concluiu-se que a composição genética dos animais e os fatores ambientais, como mês, ano, ordem e tipo de parto, refletiram sobre o peso à cobrição e o ganho de peso durante a gestação das matrizes estudadas.<br>The effects of month, year, order and type parturition on mating weight (MW), weight gain during gestation (WG), respectively, of 753 and 527 Caninde native goats, 463 and 333 exotic Anglo Nubian and 374 and 296 Alpine goats, 151 and 87 crossbred ½ Alpine ½ SRD, and 92 and 73 ¾Alpine ¼SRD goats, raised in the Experimental Station of the Governmental Research Institute (EMEPA-PB), Soledade - Paraiba - Brazil, in the period from 1980 to 1994. The effect of month was significant on MW of the Caninde, Anglo Nubian and crossbred goats. The year influenced MW of all genetic groups and effect on WG was significant for Caninde, Anglo Nubian, ½A ½SRD and Alpine goats. Mating weight increased as parturition order increased and WG was evident in the goats of first kidding. Type parturition showed significant effect on WG of Nubian, ¾ A ¼ SRD and Alpine goats, that showed higher WG when had single kidding. Significant difference among genetic groups was observed for MW and WG. The native goats were more weightless than the exotic and crossbred goats, however showed better weight gain during gestation. There was superiority of mating weights of exotic than the native and crossbred goats. The animal genetic composition and environmental factors, as month, year, order and type of birth, affected mating weight and weight gain during the gestation of the studied flock
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