343 resultados para 321011 Medical Genetics


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Electronic Health Record (EHR) systems are being introduced to overcome the limitations associated with paper-based and isolated Electronic Medical Record (EMR) systems. This is accomplished by aggregating medical data and consolidating them in one digital repository. Though an EHR system provides obvious functional benefits, there is a growing concern about the privacy and reliability (trustworthiness) of Electronic Health Records. Security requirements such as confidentiality, integrity, and availability can be satisfied by traditional hard security mechanisms. However, measuring data trustworthiness from the perspective of data entry is an issue that cannot be solved with traditional mechanisms, especially since degrees of trust change over time. In this paper, we introduce a Time-variant Medical Data Trustworthiness (TMDT) assessment model to evaluate the trustworthiness of medical data by evaluating the trustworthiness of its sources, namely the healthcare organisation where the data was created and the medical practitioner who diagnosed the patient and authorised entry of this data into the patient’s medical record, with respect to a certain period of time. The result can then be used by the EHR system to manipulate health record metadata to alert medical practitioners relying on the information to possible reliability problems.

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This study aimed to identify: i) the prevalence of malnutrition according to the scored Patient Generated-Subjective Global Assessment (PG-SGA); ii) utilization of available nutrition resources; iii) patient nutrition information needs; and iv) external sources of nutrition information. An observational, cross-sectional study was undertaken at an Australian public hospital on 191 patients receiving oncology services. According to PG-SGA, 49% of patients were malnourished and 46% required improved symptom management and/or nutrition intervention. Commonly reported nutrition-impact symptoms included: peculiar tastes (31%), no appetite (24%) and nausea (24%). External sources of nutrition information were accessed by 37%, with popular choices being media/internet (n=19) and family/friends (n=13). In a sub-sample (n=65), 32 patients were aware of the available nutrition resources, 23 thought the information sufficient and 19 patients had actually read them. Additional information on supplements and modifying side effects was requested by 26 patients. Malnutrition is common in oncology patients receiving treatment at an Australian public hospital and almost half require improved symptom management and/or nutrition intervention. Patients who read the available nutrition information found it useful, however awareness of these nutrition resources and the provision of information on supplementation and managing symptoms requires attention.

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Dr. Young-Ki Paik directs the Yonsei Proteome Research Center in Seoul, Korea and was elected as the President of the Human Proteome Organization (HUPO) in 2009. In the December 2009 issue of the Current Pharmacogenomics and Personalized Medicine (CPPM), Dr. Paik explains the new field of pharmacoproteomics and the approaching wave of “proteomics diagnostics” in relation to personalized medicine, HUPO’s role in advancing proteomics technology applications, the HUPO Proteomics Standards Initiative, and the future impact of proteomics on medicine, science, and society. Additionally, he comments that (1) there is a need for launching a Gene-Centric Human Proteome Project (GCHPP) through which all representative proteins encoded by the genes can be identified and quantified in a specific cell and tissue and, (2) that the innovation frameworks within the diagnostics industry hitherto borrowed from the genetics age may require reevaluation in the case of proteomics, in order to facilitate the uptake of pharmacoproteomics innovations. He stresses the importance of biological/clinical plausibility driving the evolution of biotechnologies such as proteomics,instead of an isolated singular focus on the technology per se. Dr. Paik earned his Ph.D. in biochemistry from the University of Missouri-Columbia and carried out postdoctoral work at the Gladstone Foundation Laboratories of Cardiovascular Disease, University of California at San Francisco. In 2005, his research team at Yonsei University first identified and characterized the chemical structure of C. elegans dauer pheromone (daumone) which controls the aging process of this nematode. He is interviewed by a multidisciplinary team specializing in knowledge translation, technology regulation, health systems governance, and innovation analysis.

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Objective: The emergency medical system (EMS) can be defined as a comprehensive, coordinated and integrated system of care for patients suffering acute illness and injury. The aim of the present paper is to describe the evolution of the Queensland Emergency Medical System (QEMS) and to recommend a strategic national approach to EMS development. Methods: Following the formation of the Queensland Ambulance Service in 1991, a state EMS committee was formed. This committee led the development and approval of the cross portfolio QEMS policy framework that has resulted in dynamic policy development, system monitoring and evaluation. This framework is led by the Queensland Emergency Medical Services Advisory Committee. Results: There has been considerable progress in the development of all aspects of the EMS in Queensland. These developments have derived from the improved coordination and leadership that QEMS provides and has resulted in widespread satisfaction by both patients and stakeholders. Conclusions: The strategic approach outlined in the present paper offers a model for EMS arrangements throughout Australia. We propose that the Council of Australian Governments should require each state and Territory to maintain an EMS committee. These state EMS committees should have a broad portfolio of responsibilities. They should provide leadership and direction to the development of the EMS and ensure coordination and quality of outcomes. A national EMS committee with broad representation and broad scope should be established to coordinate the national development of Australia's EMS.

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Objective: To systematically review the published evidence of the impact of health information technology (HIT) on the quality of medical and health care specifically clinicians’ adherence to evidence-based guidelines and the corresponding impact this had on patient clinical outcomes. In order to be as inclusive as possible the research examined literature discussing the use of health information technologies and systems in both medical care such as clinical and surgical, and other health care such as allied health and preventive services.----- Design: Systematic review----- Data Sources: Relevant literature was systematically searched on English language studies indexed in MEDLINE and CINAHL(1998 to 2008), Cochrane Library, PubMed, Database of Abstracts of Review of Effectiveness (DARE), Google scholar and other relevant electronic databases. A search for eligible studies (matching the inclusion criteria) was also performed by searching relevant conference proceedings available through internet and electronic databases, as well as using reference lists identified from cited papers.----- Selection criteria: Studies were included in the review if they examined the impact of Electronic Health Record (EHR), Computerised Provider Order-Entry (CPOE), or Decision Support System (DS); and if the primary outcomes of the studies were focused on the level of compliance with evidence-based guidelines among clinicians. Measures could be either changes in clinical processes resulting from a change of the providers’ behaviour or specific patient outcomes that demonstrated the effectiveness of a particular treatment given by providers. ----- Methods: Studies were reviewed and summarised in tabular and text form. Due to heterogeneity between studies, meta-analysis was not performed.----- Results: Out of 17 studies that assessed the impact of health information technology on health care practitioners’ performance, 14 studies revealed a positive improvement in relation to their compliance with evidence-based guidelines. The primary domain of improvement was evident from preventive care and drug ordering studies. Results from the studies that included an assessment for patient outcomes however, were insufficient to detect either clinically or statistically important improvements as only a small proportion of these studies found benefits. For instance, only 3 studies had shown positive improvement, while 5 studies revealed either no change or adverse outcomes.----- Conclusion: Although the number of included studies was relatively small for reaching a conclusive statement about the effectiveness of health information technologies and systems on clinical care, the results demonstrated consistency with other systematic reviews previously undertaken. Widescale use of HIT has been shown to increase clinician’s adherence to guidelines in this review. Therefore, it presents ongoing opportunities to maximise the uptake of research evidence into practice for health care organisations, policy makers and stakeholders.

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In this study, a nanofiber mesh made by co-electrospinning medical grade poly(epsilon-caprolactone) and collagen (mPCL/Col) was fabricated and studied. Its mechanical properties and characteristics were analyzed and compared to mPCL meshes. mPCL/Col meshes showed a reduction in strength but an increase in ductility when compared to PCL meshes. In vitro assays revealed that mPCL/Col supported the attachment and proliferation of smooth muscle cells on both sides of the mesh. In vivo studies in the corpus cavernosa of rabbits revealed that the mPCL/Col scaffold used in conjunction with autologous smooth muscle cells resulted in better integration with host tissue when compared to cell free scaffolds. On a cellular level preseeded scaffolds showed a minimized foreign body reaction.

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The law recognises the right of a competent adult to refuse medical treatment even if this will lead to death. Guardianship and other legislation also facilitates the making of decisions to withhold or withdraw life-sustaining treatment in certain circumstances. Despite this apparent endorsement that such decisions can be lawful, doubts have been raised in Queensland about whether decisions to withhold or withdraw life-sustaining treatment would contravene the criminal law, and particularly the duty imposed by the Criminal Code (Qld) to provide the “necessaries of life”. This article considers this tension in the law and examines various arguments that might allow for such decisions to be made lawfully. It ultimately concludes, however, that criminal responsibility may still arise and so reform is needed.

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Objective: To quantify the extent to which alcohol related injuries are adequately identified in hospitalisation data using ICD-10-AM codes indicative of alcohol involvement. Method: A random sample of 4373 injury-related hospital separations from 1 July 2002 to 30 June 2004 were obtained from a stratified random sample of 50 hospitals across 4 states in Australia. From this sample, cases were identified as involving alcohol if they contained an ICD-10-AM diagnosis or external cause code referring to alcohol, or if the text description extracted from the medical records mentioned alcohol involvement. Results: Overall, identification of alcohol involvement using ICD codes detected 38% of the alcohol-related sample, whilst almost 94% of alcohol-related cases were identified through a search of the text extracted from the medical records. The resultant estimate of alcohol involvement in injury-related hospitalisations in this sample was 10%. Emergency department records were the most likely to identify whether the injury was alcohol-related with almost three-quarters of alcohol-related cases mentioning alcohol in the text abstracted from these records. Conclusions and Implications: The current best estimates of the frequency of hospital admissions where alcohol is involved prior to the injury underestimate the burden by around 62%. This is a substantial underestimate that has major implications for public policy, and highlights the need for further work on improving the quality and completeness of routine administrative data sources for identification of alcohol-related injuries.

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Purpose: This two-part research project was undertaken as part of the planning process by Queensland Health (QH), Cancer Screening Services Unit (CSSU), Queensland Bowel Cancer Screening Program (QBCSP), in partnership with the National Bowel Cancer Screening Program (NBCSP), to prepare for the implementation of the NBCSP in public sector colonoscopy services in QLD in late 2006. There was no prior information available on the quality of colonoscopy services in Queensland (QLD) and no prior studies that assessed the quality of colonoscopy training in Australia. Furthermore, the NBCSP was introduced without extra funding for colonoscopy service improvement or provision for increases in colonoscopic capacity resulting from the introduction of the NBCSP. The main purpose of the research was to record baseline data on colonoscopy referral and practice in QLD and current training in colonoscopy Australia-wide. It was undertaken from a quality improvement perspective. Implementation of the NBCSP requires that all aspects of the screening pathway, in particular colonoscopy services for the assessment of positive Faecal Occult Blood Tests (FOBTs), will be effective, efficient, equitable and evidence-based. This study examined two important aspects of the continuous quality improvement framework for the NBCSP as they relate to colonoscopy services: (1) evidence-based practice, and (2) quality of colonoscopy training. The Principal Investigator was employed as Senior Project Officer (Training) in the QBCSP during the conduct of this research project. Recommendations from this research have been used to inform the development and implementation of quality improvement initiatives for provision of colonoscopy in the NBCSP, its QLD counterpart the QBCSP and colonoscopy services in QLD, in general. Methods – Part 1 Chart audit of evidence-based practice: The research was undertaken in two parts from 2005-2007. The first part of this research comprised a retrospective chart audit of 1484 colonoscopy records (some 13% of all colonoscopies conducted in public sector facilities in the year 2005) in three QLD colonoscopy services. Whilst some 70% of colonoscopies are currently conducted in the private sector, only public sector colonoscopy facilities provided colonoscopies under the NBCSP. The aim of this study was to compare colonoscopy referral and practice with explicit criteria derived from the National Health & Medical Research Council (NHMRC) (1999) Clinical Practice Guidelines for the Prevention, Early Detection and Management of Colorectal Cancer, and describe the nature of variance with the guidelines. Symptomatic presentations were the most common indication for colonoscopy (60.9%). These comprised per rectal bleeding (31.0%), change of bowel habit (22.1%), abdominal pain (19.6%), iron deficiency anaemia (16.2%), inflammatory bowel disease (8.9%) and other symptoms (11.4%). Surveillance and follow-up colonoscopies accounted for approximately one-third of the remaining colonoscopy workload across sites. Gastroenterologists (GEs) performed relatively more colonoscopies per annum (59.9%) compared to general surgeons (GS) (24.1%), colorectal surgeons (CRS) (9.4%) and general physicians (GPs) (6.5%). Guideline compliance varied with the designation of the colonoscopist. Compliance was lower for CRS (62.9%) compared to GPs (76.0%), GEs (75.0%), GSs (70.9%, p<0.05). Compliance with guideline recommendations for colonoscopic surveillance for family history of colorectal cancer (23.9%), polyps (37.0%) and a past history of bowel cancer (42.7%), was by comparison significantly lower than for symptomatic presentations (94.4%), (p<0.001). Variation with guideline recommendations occurred more frequently for polyp surveillance (earlier than guidelines recommend, 47.9%) and follow-up for past history of bowel cancer (later than recommended, 61.7%, p<0.001). Bowel cancer cases detected at colonoscopy comprised 3.6% of all audited colonoscopies. Incomplete colonoscopies occurred in 4.3% of audited colonoscopies and were more common among women (76.6%). For all colonoscopies audited, the rate of incomplete colonoscopies for GEs was 1.6% (CI 0.9-2.6), GPs 2.0% (CI 0.6-7.2), GS 7.0% (CI 4.8-10.1) and CRS 16.4% (CI 11.2-23.5). 18.6% (n=55) of patients with a documented family history of bowel cancer had colonoscopy performed against guidelines recommendations (for general (category 1) population risk, for reasons of patient request or family history of polyps, rather than for high risk status for colorectal cancer). In general, family history was inadequately documented and subsequently applied to colonoscopy referral and practice. Methods - Part 2 Surveys of quality of colonoscopy training: The second part of the research consisted of Australia-wide anonymous, self-completed surveys of colonoscopy trainers and their trainees to ascertain their opinions on the current apprenticeship model of colonoscopy in Australia and to identify any training needs. Overall, 127 surveys were received from colonoscopy trainers (estimated response rate 30.2%). Approximately 50% of trainers agreed and 27% disagreed that current numbers of training places were adequate to maintain a skilled colonoscopy workforce in preparation for the NBCSP. Approximately 70% of trainers also supported UK-style colonoscopy training within dedicated accredited training centres using a variety of training approaches including simulation. A collaborative approach with the private sector was seen as beneficial by 65% of trainers. Non-gastroenterologists (non-GEs) were more likely than GEs to be of the opinion that simulators are beneficial for colonoscopy training (χ2-test = 5.55, P = 0.026). Approximately 60% of trainers considered that the current requirements for recognition of training in colonoscopy could be insufficient for trainees to gain competence and 80% of those indicated that ≥ 200 colonoscopies were needed. GEs (73.4%) were more likely than non-GEs (36.2%) to be of the opinion that the Conjoint Committee standard is insufficient to gain competence in colonoscopy (χ2-test = 16.97, P = 0.0001). The majority of trainers did not support training either nurses (73%) or GPs in colonoscopy (71%). Only 81 (estimated response rate 17.9%) surveys were received from GS trainees (72.1%), GE trainees (26.3%) and GP trainees (1.2%). The majority were males (75.9%), with a median age 32 years and who had trained in New South Wales (41.0%) or Victoria (30%). Overall, two-thirds (60.8%) of trainees indicated that they deemed the Conjoint Committee standard sufficient to gain competency in colonoscopy. Between specialties, 75.4% of GS trainees indicated that the Conjoint Committee standard for recognition of colonoscopy was sufficient to gain competence in colonoscopy compared to only 38.5% of GE trainees. Measures of competency assessed and recorded by trainees in logbooks centred mainly on caecal intubation (94.7-100%), complications (78.9-100%) and withdrawal time (51-76.2%). Trainees described limited access to colonoscopy training lists due to the time inefficiency of the apprenticeship model and perceived monopolisation of these by GEs and their trainees. Improvements to the current training model suggested by trainees included: more use of simulation, training tools, a United Kingdom (UK)-style training course, concentration on quality indicators, increased access to training lists, accreditation of trainers and interdisciplinary colonoscopy training. Implications for the NBCSP/QBCSP: The introduction of the NBCSP/QBCSP necessitates higher quality colonoscopy services if it is to achieve its ultimate goal of decreasing the incidence of morbidity and mortality associated with bowel cancer in Australia. This will be achieved under a new paradigm for colonoscopy training and implementation of evidence-based practice across the screening pathway and specifically targeting areas highlighted in this thesis. Recommendations for improvement of NBCSP/QBCSP effectiveness and efficiency include the following: 1. Implementation of NBCSP and QBCSP health promotion activities that target men, in particular, to increase FOBT screening uptake. 2. Improved colonoscopy training for trainees and refresher courses or retraining for existing proceduralists to improve completion rates (especially for female NBCSP/QBCSP participants), and polyp and adenoma detection and removal, including newer techniques to detect flat and depressed lesions. 3. Introduction of colonoscopy training initiatives for trainees that are aligned with NBCSP/QBCSP colonoscopy quality indicators, including measurement of training outcomes using objective quality indicators such as caecal intubation, withdrawal time, and adenoma detection rate. 4. Introduction of standardised, interdisciplinary colonoscopy training to reduce apparent differences between specialties with regard to compliance with guideline recommendations, completion rates, and quality of polypectomy. 5. Improved quality of colonoscopy training by adoption of a UK-style training program with centres of excellence, incorporating newer, more objective assessment methods, use of a variety of training tools such as simulation and rotations of trainees between metropolitan, rural, and public and private sector training facilities. 6. Incorporation of NHMRC guidelines into colonoscopy information systems to improve documentation, provide guideline recommendations at the point of care, use of gastroenterology nurse coordinators to facilitate compliance with guidelines and provision of guideline-based colonoscopy referral letters for GPs. 7. Provision of information and education about the NBCSP/QBCSP, bowel cancer risk factors, including family history and polyp surveillance guidelines, for participants, GPs and proceduralists. 8. Improved referral of NBCSP/QBCSP participants found to have a high-risk family history of bowel cancer to appropriate genetics services.

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Understanding the complexities that are involved in the genetics of multifactorial diseases is still a monumental task. In addition to environmental factors that can influence the risk of disease, there is also a number of other complicating factors. Genetic variants associated with age of disease onset may be different from those variants associated with overall risk of disease, and variants may be located in positions that are not consistent with the traditional protein coding genetic paradigm. Latent Variable Models are well suited for the analysis of genetic data. A latent variable is one that we do not directly observe, but which is believed to exist or is included for computational or analytic convenience in a model. This thesis presents a mixture of methodological developments utilising latent variables, and results from case studies in genetic epidemiology and comparative genomics. Epidemiological studies have identified a number of environmental risk factors for appendicitis, but the disease aetiology of this oft thought useless vestige remains largely a mystery. The effects of smoking on other gastrointestinal disorders are well documented, and in light of this, the thesis investigates the association between smoking and appendicitis through the use of latent variables. By utilising data from a large Australian twin study questionnaire as both cohort and case-control, evidence is found for the association between tobacco smoking and appendicitis. Twin and family studies have also found evidence for the role of heredity in the risk of appendicitis. Results from previous studies are extended here to estimate the heritability of age-at-onset and account for the eect of smoking. This thesis presents a novel approach for performing a genome-wide variance components linkage analysis on transformed residuals from a Cox regression. This method finds evidence for a dierent subset of genes responsible for variation in age at onset than those associated with overall risk of appendicitis. Motivated by increasing evidence of functional activity in regions of the genome once thought of as evolutionary graveyards, this thesis develops a generalisation to the Bayesian multiple changepoint model on aligned DNA sequences for more than two species. This sensitive technique is applied to evaluating the distributions of evolutionary rates, with the finding that they are much more complex than previously apparent. We show strong evidence for at least 9 well-resolved evolutionary rate classes in an alignment of four Drosophila species and at least 7 classes in an alignment of four mammals, including human. A pattern of enrichment and depletion of genic regions in the profiled segments suggests they are functionally significant, and most likely consist of various functional classes. Furthermore, a method of incorporating alignment characteristics representative of function such as GC content and type of mutation into the segmentation model is developed within this thesis. Evidence of fine-structured segmental variation is presented.

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This study aims to stimulate thought, debate and action for change on this question of more vigorous philanthropic funding of Australian health and medical research (HMR). It sharpens the argument with some facts and ideas about HMR funding from overseas sources. It also reports informed opinions from those working, giving and innovating in this area. It pinpoints the range of attitudes to HMR giving, both positive and negative. The study includes some aspects of Government funding as part of the equation, viewing Government as major HMR givers, with particular ability to partner, leverage and create incentives. Stimulating new philanthropy takes active outreach. The opportunity to build more dialogue between the HMR industry and the wider community is timely given the ‘licence to practice’ issues and questioned trust that applies currently somewhat both to science and to the charitable sector. This interest in improving HMR philanthropy also coincides with the launch last year by the Federal Government of Nonprofit Australia Limited (NAL), a group currently assessing infrastructure improvements to the charitable sector. History suggests no one will create this change if Research Australia does not. However, interest in change exists in various quarters. For Research Australia to successfully change the culture of Australian HMR giving, the process will drive the outcomes. Obviously stakeholder buy-in and partners will be needed and the ultimate blueprint for greater philanthropic HMR funding here will not be this document. Instead it will be the one that wears the handprint and ‘mindprint’ of the many architects and implementers interested in promoting HMR philanthropy, from philanthropists to nonprofit peaks to government policy arms. As the African proverb says, ‘If you want to go fast, go alone; but if you want to go far, go with others’.

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DIRECTOR’S OVERVIEW by Professor Mark Pearcy This report for 2009 is the first full year report for MERF. The development of our activities in 2009 has been remarkable and is testament to the commitment of the staff to the vision of MERF as a premier training and research facility. From the beginnings in 2003, when a need was identified for the provision of specialist research and training facilities to enable close collaboration between researchers and clinicians, to the realisation of the vision in 2009 has been an amazing journey. However, we have learnt that there is much more that can be achieved and the emphasis will be on working with the university, government and external partners to realise the full potential of MERF by further development of the Facility. In 2009 we conducted 28 workshops in the Anatomical and Surgical Skills Laboratory providing training for surgeons in the latest techniques. This was an excellent achievement for the first full year as our reputation for delivering first class facilities and support grows. The highlight, perhaps, was a course run via our video link by a surgeon in the USA directing the participants in MERF. In addition, we have continued to run a small number of workshops in the operating theatre and this promises to be an avenue that will be of growing interest. Final approval was granted for the QUT Body Bequest Program late in 2009 following the granting of an Anatomical Accepting Licence. This will enable us to expand our capabilities by provide better material for the workshops. The QUT Body Bequest Program will be launched early in 2010. The Biological Research Facility (BRF) conducted over 270 procedures in 2009. This is a wonderful achievement considering less then 40 were performed in 2008. The staff of the BRF worked very hard to improve the state of the old animal house and this resulted in approval for expanded use by the ethics committees of both QUT and the University of Queensland. An external agency conducted an Occupational Health and Safety Audit of MERF in 2009. While there were a number of small issues that require attention, the auditor congratulated the staff of MERF on achieving a good result, particularly for such an early stage in the development of MERF. The journey from commissioning of MERF in 2008 to the full implementation of its activities in 2009 has demonstrated the potential of this facility and 2010 will be an exciting year as its activities are recognised and further expanded building development is pursued.

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• At common law, a competent adult can refuse life-sustaining medical treatment, either contemporaneously or through an advance directive which will operate at a later time when the adult’s capacity is lost. • Legislation in most Australian jurisdictions also provides for a competent adult to complete an advance directive that refuses life-sustaining medical treatment. • At common law, a court exercising its parens patriae jurisdiction can consent to, or authorise, the withdrawal or withholding of life-sustaining medical treatment from an adult or child who lacks capacity if that is in the best interests of the person. A court may also declare that the withholding or withdrawal of treatment is lawful. • Guardianship legislation in most jurisdictions allows a substitute decision-maker, in an appropriate case, to refuse life-sustaining medical treatment for an adult who lacks capacity. • In terms of children, a parent may refuse life-sustaining medical treatment for his or her child if it is in the child’s best interests. • While a refusal of life-sustaining medical treatment by a competent child may be valid, this decision can be overturned by a court. • At common law and generally under guardianship statutes, demand for futile treatment need not be complied with by doctors.