Comparison of digraph and fault tree based approaches for system fault diagnostics

The issue of fault diagnosis has become ever prevalent in engineering systems. Information concerning possible failures within a system can help to minimise the disruption to the functionality of the system by allowing quick rectification. Traditional approaches to fault diagnosis within engineering systems have focused on sequential testing procedures and real time mechanisms. Both methods have been predominantly limited to single fault causes. Latest approaches also consider the issue of multiple faults in reflection to the characteristics of modern day systems designed for high reliability. The bases of these approaches are the fault tree analysis technique and the method of digraphs. Both use a comparative approach to consider differences between actual system behaviour and that expected. This paper focuses on reviewing the developments with these methods to diagnose faults within an aircraft fuel system and to compare their effectiveness and future potential

Integrated system fault diagnostics utilising digraph and fault tree-based approaches

With the growing intolerance to failures within systems, the issue of fault diagnosis has become ever prevalent. Information concerning these possible failures can help to minimise the disruption to the functionality of the system by allowing quick rectification. Traditional approaches to fault diagnosis within engineering systems have focused on sequential testing procedures and real time mechanisms. Both methods have been predominantly limited to single fault causes. Latest approaches also consider the issue of multiple faults in reflection to the characteristics of modern day systems designed for high reliability. In addition, a diagnostic capability is required in real time and for changeable system functionality. This paper focuses on two approaches which have been developed to cater for the demands of diagnosis within current engineering systems, namely application of the fault tree analysis technique and the method of digraphs. Both use a comparative approach to consider differences between actual system behaviour and that expected. The procedural guidelines are discussed for each method, with an experimental aircraft fuel system used to test and demonstrate the features of the techniques. The effectiveness of the approaches are compared and their future potential highlighted

Diagnosis of Classic Homocystinuria in Two Boys Presenting with Acute Cerebral Venous Thrombosis and Neurologic Dysfunction after Normal Newborn Screening

Homocystinuria, caused by cystathionine β-synthase deficiency, is a rare inherited disorder involving metabolism of methionine. Impaired synthesis of cystathionine leads to accumulation of homocysteine that affects several organ systems leading to abnormalities in the skeletal, cardiovascular, ophthalmic and central nervous systems. We report a 14-month-old and a 7-year-old boy who presented with neurologic dysfunction and were found to have cerebral venous sinus thromboses on brain magnetic resonance imaging (MRI)/magnetic resonance venogram (MRV) and metabolic and hypercoagulable work-up were consistent with classic homocystinuria. The 14-month-old boy had normal newborn screening. The 7-year-old boy initially had an abnormal newborn screen for homocystinuria but second tier test that consisted of total homocysteine was normal, so his newborn screen was reported as normal. With the advent of expanded newborn screening many treatable metabolic disorders are detected before affected infants and children become symptomatic. Methionine is the primary target in newborn screening for homocystinuria and total homocysteine is a secondary target. Screening is usually performed after 24–48 h of life in most states in the US and some states perform a second screen as a policy on all tested newborns or based on when the initial newborn screen was performed. This is done in hopes of detecting infants who may have been missed on their first screen. In the United Kingdom, NBS using dried blood spot is performed at 5 to 8 days after birth. It is universally known that methionine is a poor target and newborn screening laboratories have used different cutoffs for a positive screen. Reducing the methionine cutoff increases the sensitivity but not necessarily the specificity of the test and increasing the cutoff will miss babies who may have HCU whose levels may not be high enough to be detected at their age of ascertainment. It is not clear whether adjusting methionine level to decrease the false negative rates combined with total homocysteine as a second-tier test can be used effectively and feasibly to detect newborns with HCU. Between December 2005 and December 2020, 827,083 newborns were screened in Kentucky by MS/MS. Kentucky NBS program uses the postanalytical tools offered by the Collaborative Laboratory Integrated Reports (CLIR) project which considers gestational age and birthweight. One case of classical homocystinuria was detected and two were missed on first and second tier tests respectively. The newborn that had confirmed classical homocystinuria was one of twenty-three newborns that were referred for second tier test because of elevated methionine (cutoff is \u3e60 µmol/L) and/or Met/Phe ratio (cutoff is \u3e1.0); all 23 dried blood spots had elevated total homocysteine. One of the subjects of this case report had a normal methionine on initial screen and the other had a normal second-tier total homocysteine level. The performance of methionine and total homocysteine as screening analytes for homocystinuria suggest that it may be time for newborn screening programs to consider adopting next generation sequencing (NGS) platforms as alternate modality of metabolic newborn screening. Because of cost considerations, newborn screening programs may not want to adopt NGS, but the downstream healthcare cost incurred due to missed cases and the associated morbidity of affected persons far exceed costs to newborn screen programs. Since NGS is becoming more widely available and inexpensive, it may be feasible to change testing algorithms to use Newborn Metabolic NGS as the primary mode of testing on dry blood specimens with confirmation with biochemical testing. Some commercial laboratories have Newborn Screening Metabolic gene panel that includes all metabolic disorders on the most comprehensive newborn screening panel in addition to many other conditions that are not on the panel. A more targeted NGS panel can be designed that may not cost much and eventually help avoid the pitfalls associated with delayed diagnosis and cost of screening

Caucasian Infants’ Attentional Orienting to Own- and Other-Race Faces

Infants show preferential attention toward faces and detect faces embedded within complex naturalistic scenes. Newborn infants are insensitive to race, but rapidly develop differential processing of own- and other-race faces. In the present study, we investigated the development of attentional orienting toward own- and other-race faces embedded within naturalistic scenes. Infants aged six-, nine- and twelve-months did not show differences in the speed of orienting to own- and other race faces, but other-race faces held infants’ visual attention for longer. We also found a clear developmental progression in attentional capture and holding, with older infants orienting to faces faster and fixating them for longer. Results are interpreted within the context of the two-process model of face processing

Recruiting for Epigenetic Research: Facilitating the Informed Consent Process

Because the effects of epigenetic (gene-environment interaction) changes have been associated with numerous adverse health states, the study of epigenetic measures provides exciting research opportunities for biobehavioral scientists. However, recruitment for studies focusing on any aspect of genetics poses challenges. Multiple factors, including lack of knowledge regarding a research study, have been identified as barriers to recruitment. Strengthening the informed consent process through extended discussion has been found to be effective in recruiting for research studies in general, yet there is a paucity of information that focused on such a recruitment strategy for epigenetic studies. In this paper, we share our experiences with strategies to strengthen the informed consent process as well as provide samples of materials developed to heighten potential participants’ understanding of epigenetics, in 4 epigenetic research studies with women from diverse backgrounds experiencing a range of health issues. The combined enrollment success rate for epigenetic studies using the process was 89% with participants representing a diverse population. We posit that carefully developed recruitment scripts provided a foundation for improving potential participants’ understanding of the research project. Easy to understand illustrations of the epigenetic process provided a basis for active engagement and encouraged individual questions

Subconcussive Head Impact Results in a Unique Circulating Exosomal MicroRNA Signature

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Perceived Stress Levels, Chemotherapy, Radiation Treatment and Tumor Characteristics Are Associated with a Persistent Increased Frequency of Somatic Chromosomal Instability in Women Diagnosed with Breast Cancer: A One Year Longitudinal Study

While advances in therapeutic approaches have resulted in improved survival rates for women diagnosed with breast cancer, subsets of these survivors develop persistent psychoneurological symptoms (fatigue, depression/anxiety, cognitive dysfunction) that compromise their quality of life. The biological basis for these persistent symptoms is unclear, but could reflect the acquisition of soma-wide chromosomal instability following the multiple biological/psychological exposures associated with the diagnosis/treatment of breast cancer. An essential first step toward testing this hypothesis is to determine if these cancer-related exposures are indeed associated with somatic chromosomal instability frequencies. Towards this end, we longitudinally studied 71 women (ages 23-71) with early-stage breast cancer and quantified their somatic chromosomal instability levels using a cytokinesis-blocked micronuclear/cytome assay at 4 timepoints: before chemotherapy (baseline); four weeks after chemotherapy initiation; six months after chemotherapy (at which time some women received radiotherapy); and one year following chemotherapy initiation. Overall, a significant change in instability frequencies was observed over time, with this change differing based on whether the women received radiotherapy (p=0.0052). Also, significantly higher instability values were observed one year after treatment initiation compared to baseline for the women who received: sequential taxotere/doxorubicin/cyclophosphamide (pp=0.014). Significant predictive associations for acquired micronuclear/cytome abnormality frequencies were also observed for race (p=0.0052), tumor type [luminal B tumors] (p=0.0053), and perceived stress levels (p=0.0129). The impact of perceived stress on micronuclear/cytome frequencies was detected across all visits, with the highest levels of stress being reported at baseline (p =0.0024). These findings suggest that the cancer-related exposome has an impact on both healthy somatic cells and tumor cells, and may lead to persistent chromosomal instability. In addition, stress was a significant predictor of chromosomal instability; thus, interventions that aim to reduce stress may reduce acquired soma-wide chromosomal instability for cancer survivors

Synthesizing diverse evidence: the use of primary qualitative data analysis methods and logic models in public health reviews

Objectives: The nature of public health evidence presents challenges for conventional systematic review processes, with increasing recognition of the need to include a broader range of work including observational studies and qualitative research, yet with methods to combine diverse sources remaining underdeveloped. The objective of this paper is to report the application of a new approach for review of evidence in the public health sphere. The method enables a diverse range of evidence types to be synthesized in order to examine potential relationships between a public health environment and outcomes. Study design: The study drew on previous work by the National Institute for Health and Clinical Excellence on conceptual frameworks. It applied and further extended this work to the synthesis of evidence relating to one particular public health area: the enhancement of employee mental well-being in the workplace. Methods: The approach utilized thematic analysis techniques from primary research, together with conceptual modelling, to explore potential relationships between factors and outcomes. Results: The method enabled a logic framework to be built from a diverse document set that illustrates how elements and associations between elements may impact on the well-being of employees. Conclusions: Whilst recognizing potential criticisms of the approach, it is suggested that logic models can be a useful way of examining the complexity of relationships between factors and outcomes in public health, and of highlighting potential areas for interventions and further research. The use of techniques from primary qualitative research may also be helpful in synthesizing diverse document types. (C) 2010 The Royal Society for Public Health. Published by Elsevier Ltd. All rights reserved

Identification of a rare de novo three-way complex t(5;20;8)(q31;p11.2;p21) with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmental delay: case report

<p>Abstract</p> <p>Background</p> <p>Complex chromosome rearrangements (CCRs), which involve more than two breakpoints on two or more chromosomes, are uncommon occurrences. Although most CCRs appear balanced at the level of the light microscope, many demonstrate cryptic, submicroscopic imbalances at the translocation breakpoints.</p> <p>Results</p> <p>We report a female with hearing loss and global developmental delay with a complex three-way unbalanced translocation (5;20;8)(q31;p11.2;p21) resulting in microdeletions on 5q31.2, 5q31.3, and 8p23.2 identified by karyotyping, microarray analysis and fluorescence in situ hybridization.</p> <p>Discussion</p> <p>The microdeletion of bands 8p23.2 may be associated with the hearing impairment. Furthermore, the characterization of this patient's chromosomal abnormalities demonstrates the importance of integrated technologies within contemporary cytogenetics laboratories.</p