415 resultados para inborn-errors

em Queensland University of Technology - ePrints Archive


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Saliva contains a number of biochemical components which may be useful for diagnosis/monitoring of metabolic disorders, and as markers of cancer or heart disease. Saliva collection is attractive as a non-invasive sampling method for infants and elderly patients. We present a method suitable for saliva collection from neonates. We have applied this technique for the determination of salivary nucleotide metabolites. Saliva was collected from 10 healthy neonates using washed cotton swabs, and directly from 10 adults. Two methods for saliva extraction from oral swabs were evaluated. The analytes were then separated using high performance liquid chromatography (HPLC) with tandem mass spectrometry (MS/MS). The limits of detection for 14 purine/pyrimidine metabolites were variable, ranging from 0.01 to 1.0 mu M. Recovery of hydrophobic purine/pyrimidine metabolites from cotton tips was consistently high using water/acetonitrile extraction (92.7-111%) compared with water extraction alone. The concentrations of these metabolites were significantly higher in neonatal saliva than in adults. Preliminary ranges for nucleotide metabolites in neonatal and adult saliva are reported. Hypoxanthine and xanthine were grossly raised in neonates (49.3 +/- 25.4; 30.9 +/- 19.5 mu M respectively) compared to adults (4.3 +/- 3.3; 4.6 +/- 4.5 mu M); nucleosides were also markedly raised in neonates. This study focuses on three essential details: contamination of oral swabs during manufacturing and how to overcome this; weighing swabs to accurately measure small saliva volumes; and methods for extracting saliva metabolites of interest from cotton swabs. A method is described for determining nucleotide metabolites using HPLC with photo-diode array or MS/MS. The advantages of utilising saliva are highlighted. Nucleotide metabolites were not simply in equilibrium with plasma, but may be actively secreted into saliva, and this process is more active in neonates than adults. (C) 2013 Elsevier B.V. All rights reserved.

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Information fusion in biometrics has received considerable attention. The architecture proposed here is based on the sequential integration of multi-instance and multi-sample fusion schemes. This method is analytically shown to improve the performance and allow a controlled trade-off between false alarms and false rejects when the classifier decisions are statistically independent. Equations developed for detection error rates are experimentally evaluated by considering the proposed architecture for text dependent speaker verification using HMM based digit dependent speaker models. The tuning of parameters, n classifiers and m attempts/samples, is investigated and the resultant detection error trade-off performance is evaluated on individual digits. Results show that performance improvement can be achieved even for weaker classifiers (FRR-19.6%, FAR-16.7%). The architectures investigated apply to speaker verification from spoken digit strings such as credit card numbers in telephone or VOIP or internet based applications.

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Human error, its causes and consequences, and the ways in which it can be prevented, remain of great interest to road safety practitioners. This paper presents the findings derived from an on-road study of driver errors in which 25 participants drove a pre-determined route using MUARC's On-Road Test Vehicle (ORTeV). In-vehicle observers recorded the different errors made, and a range of other data was collected, including driver verbal protocols, forward, cockpit and driver video, and vehicle data (speed, braking, steering wheel angle, lane tracking etc). Participants also completed a post trial cognitive task analysis interview. The drivers tested made a range of different errors, with speeding violations, both intentional and unintentional, being the most common. Further more detailed analysis of a sub-set of specific error types indicates that driver errors have various causes, including failures in the wider road 'system' such as poor roadway design, infrastructure failures and unclear road rules. In closing, a range of potential error prevention strategies, including intelligent speed adaptation and road infrastructure design, are discussed.

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Object identification and tracking have become critical for automated on-site construction safety assessment. The primary objective of this paper is to present the development of a testbed to analyze the impact of object identification and tracking errors caused by data collection devices and algorithms used for safety assessment. The testbed models workspaces for earthmoving operations and simulates safety-related violations, including speed limit violations, access violations to dangerous areas, and close proximity violations between heavy machinery. Three different cases were analyzed based on actual earthmoving operations conducted at a limestone quarry. Using the testbed, the impacts of device and algorithm errors were investigated for safety planning purposes.

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Objective: Older driver research has mostly focused on identifying that small proportion of older drivers who are unsafe. Little is known about how normal cognitive changes in aging affect driving in the wider population of adults who drive regularly. We evaluated the association of cognitive function and age, with driving errors. Method: A sample of 266 drivers aged 70 to 88 years were assessed on abilities that decline in normal aging (visual attention, processing speed, inhibition, reaction time, task switching) and the UFOV® which is a validated screening instrument for older drivers. Participants completed an on-road driving test. Generalized linear models were used to estimate the associations of cognitive factor with specific driving errors and number of errors in self-directed and instructor navigated conditions. Results: All errors types increased with chronological age. Reaction time was not associated with driving errors in multivariate analyses. A cognitive factor measuring Speeded Selective Attention and Switching was uniquely associated with the most errors types. The UFOV predicted blindspot errors and errors on dual carriageways. After adjusting for age, education and gender the cognitive factors explained 7% of variance in the total number of errors in the instructor navigated condition and 4% of variance in the self-navigated condition. Conclusion: We conclude that among older drivers errors increase with age and are associated with speeded selective attention particularly when that requires attending to the stimuli in the periphery of the visual field, task switching, errors inhibiting responses and visual discrimination. These abilities should be the target of cognitive training.

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Purpose: To demonstrate that relatively simple third-order theory can provide a framework which shows how peripheral refraction can be manipulated by altering the forms of spectacle lenses. Method: Third-order equations were used to yield lens forms that correct peripheral power errors, either for the lenses alone or in combination with typical peripheral refractions of myopic eyes. These results were compared with those of finite ray-tracing. Results: The approximate forms of spherical and conicoidal lenses provided by third-order theory were flatter over a moderate myopic range than the forms obtained by rigorous raytracing. Lenses designed to correct peripheral refractive errors produced large errors when used with foveal vision and a rotating eye. Correcting astigmatism tended to give large errors in mean oblique error and vice versa. When only spherical lens forms are used, correction of the relative hypermetropic peripheral refractions of myopic eyes which are observed experimentally, or the provision of relative myopic peripheral refractions in such eyes, seems impossible in the majority of cases. Conclusion: The third-order spectacle lens design approach can readily be used to show trends in peripheral refraction.

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Fusion techniques have received considerable attention for achieving lower error rates with biometrics. A fused classifier architecture based on sequential integration of multi-instance and multi-sample fusion schemes allows controlled trade-off between false alarms and false rejects. Expressions for each type of error for the fused system have previously been derived for the case of statistically independent classifier decisions. It is shown in this paper that the performance of this architecture can be improved by modelling the correlation between classifier decisions. Correlation modelling also enables better tuning of fusion model parameters, ‘N’, the number of classifiers and ‘M’, the number of attempts/samples, and facilitates the determination of error bounds for false rejects and false accepts for each specific user. Error trade-off performance of the architecture is evaluated using HMM based speaker verification on utterances of individual digits. Results show that performance is improved for the case of favourable correlated decisions. The architecture investigated here is directly applicable to speaker verification from spoken digit strings such as credit card numbers in telephone or voice over internet protocol based applications. It is also applicable to other biometric modalities such as finger prints and handwriting samples.

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Fusion techniques have received considerable attention for achieving performance improvement with biometrics. While a multi-sample fusion architecture reduces false rejects, it also increases false accepts. This impact on performance also depends on the nature of subsequent attempts, i.e., random or adaptive. Expressions for error rates are presented and experimentally evaluated in this work by considering the multi-sample fusion architecture for text-dependent speaker verification using HMM based digit dependent speaker models. Analysis incorporating correlation modeling demonstrates that the use of adaptive samples improves overall fusion performance compared to randomly repeated samples. For a text dependent speaker verification system using digit strings, sequential decision fusion of seven instances with three random samples is shown to reduce the overall error of the verification system by 26% which can be further reduced by 6% for adaptive samples. This analysis novel in its treatment of random and adaptive multiple presentations within a sequential fused decision architecture, is also applicable to other biometric modalities such as finger prints and handwriting samples.

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Statistical dependence between classifier decisions is often shown to improve performance over statistically independent decisions. Though the solution for favourable dependence between two classifier decisions has been derived, the theoretical analysis for the general case of 'n' client and impostor decision fusion has not been presented before. This paper presents the expressions developed for favourable dependence of multi-instance and multi-sample fusion schemes that employ 'AND' and 'OR' rules. The expressions are experimentally evaluated by considering the proposed architecture for text-dependent speaker verification using HMM based digit dependent speaker models. The improvement in fusion performance is found to be higher when digit combinations with favourable client and impostor decisions are used for speaker verification. The total error rate of 20% for fusion of independent decisions is reduced to 2.1% for fusion of decisions that are favourable for both client and impostors. The expressions developed here are also applicable to other biometric modalities, such as finger prints and handwriting samples, for reliable identity verification.

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Stormwater quality modelling results is subject to uncertainty. The variability of input parameters is an important source of overall model error. An in-depth understanding of the variability associated with input parameters can provide knowledge on the uncertainty associated with these parameters and consequently assist in uncertainty analysis of stormwater quality models and the decision making based on modelling outcomes. This paper discusses the outcomes of a research study undertaken to analyse the variability related to pollutant build-up parameters in stormwater quality modelling. The study was based on the analysis of pollutant build-up samples collected from 12 road surfaces in residential, commercial and industrial land uses. It was found that build-up characteristics vary appreciably even within the same land use. Therefore, using land use as a lumped parameter would contribute significant uncertainties in stormwater quality modelling. Additionally, it was also found that the variability in pollutant build-up can also be significant depending on the pollutant type. This underlines the importance of taking into account specific land use characteristics and targeted pollutant species when undertaking uncertainty analysis of stormwater quality models or in interpreting the modelling outcomes.

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Reporting of medication administration errors (MAEs) is one means by which health care facilities monitor their practice in an attempt to maintain the safest patient environment. This study examined the likelihood of registered nurses (RNs) reporting MAEs when working in Saudi Arabia. It also attempted to identify potential barriers in the reporting of MAE. This study found that 63% of RNs raised concerns about reporting of MAEs in Saudi Arabia—nursing administration was the largest impediment affecting nurses' willingness to report MAEs. Changing attitude to a non-blame system and implementation of anonymous reporting systems may encourage a greater reporting of MAEs.

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The future emergence of many types of airborne vehicles and unpiloted aircraft in the national airspace means collision avoidance is of primary concern in an uncooperative airspace environment. The ability to replicate a pilot’s see and avoid capability using cameras coupled with vision based avoidance control is an important part of an overall collision avoidance strategy. But unfortunately without range collision avoidance has no direct way to guarantee a level of safety. Collision scenario flight tests with two aircraft and a monocular camera threat detection and tracking system were used to study the accuracy of image-derived angle measurements. The effect of image-derived angle errors on reactive vision-based avoidance performance was then studied by simulation. The results show that whilst large angle measurement errors can significantly affect minimum ranging characteristics across a variety of initial conditions and closing speeds, the minimum range is always bounded and a collision never occurs.