27 resultados para inborn-errors

em Deakin Research Online - Australia


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Zinc deficiency, causing impaired growth and development, may have a nutritional or genetic basis. We investigated two cases of inherited zinc deficiency found in breast-fed neonates, caused by low levels of zinc in the maternal milk. This condition is different from acrodermatitis enteropathica but has similarities to the "lethal milk" mouse, where low levels of zinc in the milk of lactating dams leads to zinc deficiency in pups. The mouse disorder has been attributed to a defect in the ZnT4 gene. Little is known about the expression of the human orthologue, hZnT4 (Slc30A4). Sequence analysis of cDNA, real-time PCR and Western blot analysis of hZnT4, carried out on control cells and cells from unrelated mothers of two infants with zinc deficiency, showed no differences. The hZnT4 gene was highly expressed in mouthwash buccal cells compared with lymphoblasts and fibroblasts. The hZnT4 protein did not co-localise with intracellular free zinc pools, suggesting that hZnT4 is not involved in transport of zinc into vesicles destined for secretion into milk. This observation, combined with phenotypic differences between the "lethal milk" mouse and the human disorder, suggests that the "lethal milk" mouse is not the corresponding model for the human zinc deficiency condition.

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The copper-transporting ATP7B protein is defective in patients with Wilson disease, which causes the accumulation of toxic levels of copper in the body particularly in the liver. This thesis provides new information about how ATP7B maintains copper levels in the body within safe limits.

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In this study proteins were identified that interact with the key liver enzyme, ATP7B that is affected in the copper toxicity disorder Wilson disease. Detailed characterisation of the interaction with glutaredoxin and dynactin subunit p62 contributes significantly towards our understanding of the mechanisms that regulate copper balance in the body.

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The complexity of the forging process ensures that there is inherent variability in the geometric shape of a forged part. While knowledge of shape error, comparing the desired versus the measured shape, is significant in measuring part quality the question of more interest is what can this error suggest about the forging process set-up? The first contribution of this paper is to develop a shape error metric which identifies geometric shape differences that occur from a desired forged part. This metric is based on the point distribution deformable model developed in pattern recognition research. The second contribution of this paper is to propose an inverse model that identifies changes in process set-up parameter values by analysing the proposed shape error metric. The metric and inverse models are developed using two sets of simulated hot-forged parts created using two different die pairs (simple and 'M'-shaped die pairs). A neural network is used to classify the shape data into three arbitrarily chosen levels for each parameter and it is accurate to at least 77 per cent in the worst case for the simple die pair data and has an average accuracy of approximately 80 per cent when classifying the more complex 'M'-shaped die pair data.

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It is widely agreed that measurement is of paramount importance to students’ overall development in mathematics. This paper describes a developmental ‘map’ of students’ understanding and skills in measurement, focussed on the topic of Time, that integrates correct and incorrect student ideas. The map is based on a Rasch analysis of data from a large-scale UK national survey for standardising assessment for children from 5 to 14 years of age. It is demonstrated how a partial credit strategy enables a developmental map to be constructed to show students’ strengths and weaknesses in a meaningful and useful summative and formative manner. This map provides evidence, of both a summative and a formative nature, which may enable teachers to craft appropriate and successful learning experiences for children.

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Nurses globally are required and expected to report nursing errors. As is clearly demonstrated in the international literature, fulfilling this requirement is not, however, without risks. In this discussion paper, the notion of ‘nursing error’, the practical and moral importance of defining, distinguishing and disclosing nursing errors and how a distinct definition of ‘nursing error’ fits with the new ‘system approach’ to human-error management in health care are critiqued. Drawing on international literature and two key case exemplars from the USA and Australia, arguments are advanced to support the view that although it is ‘right’ for nurses to report nursing errors, it will be very difficult for them to do so unless a non-punitive approach to nursing-error management is adopted.

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