976 resultados para Medical genetics.


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Modern genetic research holds out the promise of a bold new future in which humanity has identified and conquered the genetic roots of many diseases. Genetic science also promises to shed light on who we are, what it is that makes us tick, what it is that makes us the way we are — in short, what it is that makes us human. Yet while genetics are a potential saviour (saving us from disease), it also appears as a threat that at the extremes appears to be the stuff of our worst nightmares, such as the prospect, probably more imagined than real, of rows of cloned individuals. The new genetics hold out the promise that through genetics we will be able to determine what we are, a promise that is simultaneously appealing and terrifying. This chapter discusses the cloning of people and parts, the law’s response to cloning, genetics and diversity, a framework for law reform.

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During the past couple of decades health law has been transformed. Within that period we have been confronted with advances in medical science, particularly in genetics, reproductive technology and life-sustaining treatments. Health care has become more expensive, more consumer oriented and more litigious. In addition, the ethical implications of these developments, and the role for law, both as a regulator of health care and in its responses to emerging challenges, have occupied policy-makers, law reformers, health professionals, ethicists and the broader community in Australia and overseas. While many issues have emerged from these developments, there have been few easy solutions...

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The discovery by Watson and Crick of the structure of DNA is one of the great scientific discoveries. In the period since that discovery new areas of genetic research have opened up which hold out the hope of developing treatments or cures for many illnesses and diseases. Yet with these discoveries have also come an array of ethical and legal dilemmas about the use of genetic information and concerns about the potential for those with genetic diseases or conditions to be stigmatised and discriminated against. The discussion about the developments in genetic science has become increasingly, a debate about the use of genetic information within our society. Graeme Laurie’s book, Genetic Privacy: A Challenge to Medico-Legal Norms, guides the reader through the complexities of these debates by considering what we mean by privacy and asking whether our existing concepts are adequate to meet the challenges posed by the new genetics.

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Recent developments in genetic science will potentially have a significant impact on reproductive decision-making by adding to the list of conditions which can be diagnosed through prenatal diagnosis. This article analyses the jurisdictional variations that exist in Australian abortion laws and examines the extent to which Australian abortion laws specifically provide for termination of pregnancy on the grounds of fetal disability. The article also examines the potential impact of pre-implantation genetic diagnosis on reproductive decision-making and considers the meaning of reproductive autonomy in the context of the new genetics.

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This thesis is concerned with understanding the roles of four alternate healing systems and medical practice in the community's health behaviour. The four alternate systems are naturopathy, homoeopathy, osteopathy and chiropractic. The research reported developed from work supported by the Committee of Inquiry into Chiropractic, Osteopathy, Homoeopathy and Naturopathy conducted under the chairmanship of Professor E. C. Webb set up by the Australian Government in 1975. The study concentrates on the factors which influence individual clients in their decisions to consult healers for treatment. An underlying assumption is that an analysis of the processes that effect such decisions will lead to further knowledge of the community's attitudes towards the functions of alternate healing and medicine. A review of the historical backgrounds and current status of the four alternate healing systems leads to the conclusion that they differ in a variety of areas. These areas include treatment modalities, historical backgrounds, occupational development and rapprochement with medicine. Homoeopathy, osteopathy and chiropractic emerged as distinct approaches to healing late in the nineteenth century. Naturopathy tends to be a philosophy or style of life as much as a health system in its own right. Their relationships with medicine also vary; osteopathy and naturopathy receive some acceptance, some homoeopaths are tolerated, whilst chiropractic is ostracised and vilified. A common paradigm of treatment underlies all four alternate approaches to healing. They all eschew the use of synthetic pharmaceuticals and invasive treatments and accept an indigenous theory of disease and a belief in the vis medicatrix naturae or the healing power of nature. An inevitable concomitant of this paradigm is that they believe that healing and health must be self-engendered. They rest within the client and his or her actions, not within the hands, skills or power of the healer. It is these characteristics combined with the alternate healers ' claims to espouse a similar scientific rationale for their approaches, and their functioning as parallel healers to medicine, that establishes their special relationship with medicine. This relationship become s more problematic in the face of medicine's hegemony and claim to unique legitimacy as the community's sole healing system. The interaction between these systems and medical practice can be gauged through articles related to the four alternate healing systems that have appeared in the medical literature. Interest has been cyclical but appears to have markedly increased in the past two decades. In this period it has included exploratory and descriptive writing; concern with controlling and/or eradicating the healers; desire to protect an ignorant and vulnerable public and. finally understanding and exploration of what the alternate healers might have to offer. At the same time, the public or institutionalized role has been one of denial and suppression through ostracism and legal constraints. In spite of medicine's position the alternate healing systems have found growing community acceptance so that it is problematical and probably unacceptable now to consider their use as a 'deviant ' health action. Increasing interest in the characteristics of clients has provided a consensus that they are similar to the adult population and are more likely to suffer from musculoskeletal and chronic illnesses. They are no more likely to be neurotic or gullible than the general community, but probably more practical and more oriented towards an active involvement in the healing process. The impact of these issues is explored, through comparing the strategies taken into account when choosing a treatment. These include attending one of the alternate healers exclusively for a condition; attending an alternate healer and a medical practitioner for the same problem; attending a medical practitioner solely or not consulting any healer. Respondents from surveys of alternate healer clients and the general community were classified according to their use of these four strategies, and the influences on their decisions at different stages of the treatment decision making process were compared.

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Oral endotracheal tubes (ETTs) and nasogastric tubes (NGT) are common devices used in adult intensive care and numerous options exist for safe and comfortable securement of these devices. The aim of this project was to identify the available range of ETT and NGT securement devices in Australia as a resource for clinicians seeking to explore options for tube stabilisation. This article reports part A of this project: ETT securement options. Part B will report NGT device fixation options. Securing ETTs to ensure a patent airway with minimal ETT movement, promotion of patient comfort and absence of adverse events such as ETT dislodgement, unplanned extubation and device-related injury1, are essential critical care nursing actions. The ETT requires a fixation method that is robust yet does not traumatise or injure the mucosal tissues of the mouth and soft tissue of the lips.2,3 Choice of a securement apparatus is often determined by product availability in our units or hospitals but is also driven by evidence-based practice and clinician preference. Trying to put this information together can be difficult and time-consuming for the bedside clinician...

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This article is the second part of a two-part series examining securement options for commonly used therapeutic devices in the adult intensive care unit. Part A focused on endotracheal device securement.1 This article addresses nasogastric tube (NGT) securement options and with the aim of identifying the available range of NGT securement devices in Australia as a resource for clinicians seeking to explore options for tube stabilisation. Nasogastric feeding or gastric decompression tubes are commonly inserted via the nostril/nares. The National Pressure Ulcer Advisory Panel (NPUAP) 2011 position statement on mucosal pressure injuries, highlighted that mucosal tissues are vulnerable to pressure from devices.2 Securing of these devices sometimes leads to pressure-related injury to the internal mucosa due to difficulty visualising the mucosa and failure to reposition the nasogastric tube to relieve the pressure in a particular area.3 The nasal orifice is much smaller than the oral cavity and regular tube position changes are vital to minimise the risk of mucosal damage and ulcer development.

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In a recent paper, Wang and colleagues described the genomes of two turtles, the Chinese soft-shell turtle (Pelodiscus sinensis) and the green sea turtle (Chelonia mydas)1. A salient finding was an apparent absence of GHRL, the gene encoding the only known circulating orexigen, the peptide hormone ghrelin. The highly conserved GHRL encodes at least two bioactive peptide hormones, ghrelin2 and obestatin3, which are recognized to have a diverse range of functions in a number of cell types and physiological systems4, 5. Wang and colleagues hypothesized that the absence of ghrelin was associated with the low metabolic rate observed in these turtle species1.

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LexisNexis Questions and Answers: Medical Law is designed to facilitate both continuous review and preparation for assignments and examinations. This book provides a clear and concise revision guide for each of the major topics covered in the typical health law course. It provides an understanding of medical law in each Australian jurisdiction and gives a clear and systematic approach to analysing and answering problem and essay questions. Each chapter commences with an identification of the key issues, including a summary of the relevant cases and legislation. Each question is followed by a suggested answer plan, a sample answer and comments on how the answer might be assessed by an examiner. The author also offers advice on common errors to avoid and practical hints and tips on how to achieve higher marks.

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In Christensen v Salter [2002] QDC 082 the District Court of Queensland considered some issues on the limitation period applying to claims arising out of a failed sterilisation procedure

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This study investigates if and why assessing relevance of clinical records for a clinical retrieval task is cognitively demanding. Previous research has highlighted the challenges and issues information retrieval systems are faced with when determining the relevance of documents in this domain, e.g., the vocabulary mismatch problem. Determining if this assessment imposes cognitive load on human assessors, and why this is the case, may shed lights on what are the (cognitive) processes that assessors use for determining document relevance (in this domain). High cognitive load may impair the ability of the user to make accurate relevance judgements and hence the design of IR mechanisms may need to take this into account in order to reduce the load.

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Electronic Medical Record (EMR) systems are being implemented increasingly worldwide. Saudi Arabia is one of the developing countries that commenced implementing such systems in 1988. Whilst EMR uptake has been low in Saudi Arabia until now, a number of hospitals have implemented EMR systems successfully. This paper analyses available studies (n = 28) in the literature regarding EMR implementation in Saudi Arabia to identify the progress of EMR implementation to date and to identify the facilitators and barriers to implementation.

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This study explored the stress and wellbeing of Emergency Medical Dispatchers (EMD) who remotely provide crisis intervention to medical emergencies through telehealth support. Semi-structured interviews with 16 EMDs were conducted and Interpretative Phenomenological Analysis was used to identify themes in the data. These results indicated that despite their physical distance from the crisis scene, EMDs can experience vicarious trauma through acute and cumulative exposure to traumatic incidents and their perceived lack of control which can expound feelings of helplessness. Three superordinate themes of operational stress and trauma, organisational stress, and posttraumatic growth were identified. Practical implications are suggested to enable emergency services organisations to counteract this job related stress and promote more positive mental health outcomes.

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Two BRCA2-like sequences are present in the Arabidopsis genome. Both genes are expressed in flower buds and encode nearly identical proteins, which contain four BRC motifs. In a yeast two-hybrid assay, the Arabidopsis Brca2 proteins interact with Rad51 and Dmc1. RNAi constructs aimed at silencing the BRCA2 genes at meiosis triggered a reproducible sterility phenotype, which was associated with dramatic meiosis alterations. We obtained the same phenotype upon introduction of RNAi constructs aimed at silencing the RAD51 gene at meiosis in dmc1 mutant plants. The meiotic figures we observed strongly suggest that homologous recombination is highly disturbed in these meiotic cells, leaving aberrant recombination events to repair the meiotic double-strand breaks. The 'brca2' meiotic phenotype was eliminated in spo11 mutant plants. Our experiments point to an essential role of Brca2 at meiosis in Arabidopsis. We also propose a role for Rad51 in the dmc1 context.

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Cancer is a disease of signal transduction in which the dysregulation of the network of intracellular and extracellular signaling cascades is sufficient to thwart the cells finely-tuned biochemical control mechanisms. A keen interest in the mathematical modeling of cell signaling networks and the regulation of signal transduction has emerged in recent years, and has produced a glimmer of insight into the sophisticated feedback control and network regulation operating within cells. In this review, we present an overview of published theoretical studies on the control aspects of signal transduction, emphasizing the role and importance of mechanisms such as ‘ultrasensitivity’ and feedback loops. We emphasize that these exquisite and often subtle control strategies represent the key to orchestrating ‘simple’ signaling behaviors within the complex intracellular network, while regulating the trade-off between sensitivity and robustness to internal and external perturbations. Through a consideration of these apparent paradoxes, we explore how the basic homeostasis of the intracellular signaling network, in the face of carcinogenesis, can lead to neoplastic progression rather than cell death. A simple mathematical model is presented, furnishing a vivid illustration of how ‘control-oriented’ models of the deranged signaling networks in cancer cells may enucleate improved treatment strategies, including patient-tailored combination therapies, with the potential for reduced toxicity and more robust and potent antitumor activity.