218 resultados para sisters


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Bound in dark blue-green cloth; stamped in gold and blind.

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Mode of access: Internet.

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Group photo of Levon and Satenig Kevorkian (Jack Kevorkian's parents), his sisters Flora and Margo, Jack Kevorkian as a teenager and a child, and Satenig Kevorkian.

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Mode of access: Internet.

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A range of environmental risk factors, with childbirth the most notable, have been associated with the development of pelvic organ prolapse and urinary incontinence. However, indications of genetic influence (positive family histories, ethnic differences) have prompted research into the heritability of measures of pelvic organ descent and joint mobility, which have also been associated with prolapse and incontinence. Genes appear to influence about half of the variation in these measures and, furthermore, the pelvic organ measures are associated with elbow hyperextension at a phenotypic level (r approximate to .2). We examined these measures in young, nulligravid women to determine if their association is due to a common genetic source. Data were collected from 178 Caucasian female co-twins and non-twin sisters, 50 of whom returned to be retested, which allowed reliability to be estimated and unreliable variance to be isolated in the multivariate analyses. Structural equation modeling was used to estimate genetic associations between latent elbow and bladder mobility factors for which heritabilities were estimated to be 0.80 and 0.64 respectively. The association between these factors appeared to be mediated by common genes (genetic r = .48, non-shared environmental r = -.06), with genes influencing latent elbow mobility accounting for 14% of the variation in latent bladder mobility. We speculate that genes influencing connective tissue structure may underlie this association.

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A loss of function mutation in growth differentiation factor 9 (GDF9) in sheep causes increased ovulation rate and infertility in a dosage-sensitive manner. Spontaneous dizygotic (DZ) twinning in the human is under genetic control and women with a history of DZ twinning have an increased incidence of multiple follicle growth and multiple ovulation. We sequenced the GDF9 coding region in DNA samples from 20 women with DZ twins and identified a four-base pair deletion in GDF9 in two sisters with twins from one family. We screened a further 429 families and did not find the loss of function mutation in any other families. We genotyped eight single nucleotide polymorphisms across the GDF9 locus in 379 families with two sisters who have both given birth to spontaneous DZ twins (1527 individuals) and 226 triad families with mothers of twins and their parents (723 individuals). Using case control analysis and the transmission disequilibrium test we found no evidence for association between common variants in GDF9 and twinning in the families. We conclude that rare mutations in GDF9 may influence twinning, but twinning frequency is not associated with common variation in GDF9.

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This thesis considers management decision making at the ward level in hospitals especially by ward sisters, and the effectiveness of the intervention of a decision support system. Nursing practice theories were related to organisation and management theories in order to conceptualise a decision making framework for nurse manpower planning and deployment at the ward level. Decision and systems theories were explored to understand the concepts of decision making and the realities of power in an organisation. In essence, the hypothesis was concerned with changes in patterns of decision making that could occur with the intervention of a decision support system and that the degree of change would be governed by a set of `difficulty' factors within wards in a hospital. During the course of the study, a classification of ward management decision making was created, together with the development and validation of measuring instruments to test the research hypothesis. The decision support system used was rigorously evaluated to test whether benefits did accrue from its implementation. Quantitative results from sample wards together with qualitative information collected, were used to test this hypothesis and the outcomes postulated were supported by these findings. The main conclusion from this research is that a more rational approach to management decision making is feasible, using information from a decision support system. However, wards and ward sisters that need the most assistance, where the `difficulty' factors in the organisation are highest, benefit the least from this type of system. Organisational reviews are needed on these identified wards, involving managers and doctors, to reduce the levels of un-coordinated activities and disruption.

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We report on two Portuguese sisters with a very similar phenotype characterized by severe intellectual disability, absent speech, relative macrocephaly, coarse face, cerebellar hypotrophy, and severe ataxia. Additional common features include increased thickness of the cranial vault, delayed dental eruption, talipes equino-varus, clinodactyly, and camptodactyly of the fifth finger. The older sister has retinal dystrophy and the younger sister has short stature. Their parents are consanguineous. We suggest this condition constitutes a previously unreported autosomal recessive entity.

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Dissertação de Mestrado, Tradução e Assessoria Linguística, 12 de Setembro de 2016, Universidade dos Açores.

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Cadastral map.