AnnoTrack - a tracking system for genome annotation

<p>Abstract</p> <p>Background</p> <p>As genome sequences are determined for increasing numbers of model organisms, demand has grown for better tools to facilitate unified genome annotation efforts by communities of biologists. Typically this process involves numerous experts from the field and the use of data from dispersed sources as evidence. This kind of collaborative annotation project requires specialized software solutions for efficient data tracking and processing.</p> <p>Results</p> <p>As part of the scale-up phase of the ENCODE project (Encyclopedia of DNA Elements), the aim of the GENCODE project is to produce a highly accurate evidence-based reference gene annotation for the human genome. The <it>AnnoTrack </it>software system was developed to aid this effort. It integrates data from multiple distributed sources, highlights conflicts and facilitates the quick identification, prioritisation and resolution of problems during the process of genome annotation.</p> <p>Conclusions</p> <p>AnnoTrack has been in use for the last year and has proven a very valuable tool for large-scale genome annotation. Designed to interface with standard bioinformatics components, such as DAS servers and Ensembl databases, it is easy to setup and configure for different genome projects. The source code is available at <url>http://annotrack.sanger.ac.uk</url>.</p

Automatic Tissue Segmentation with Deep Learning in Patients with Congenital or Acquired Distortion of Brain Anatomy

Brains with complex distortion of cerebral anatomy present several challenges to automatic tissue segmentation methods of T1-weighted MR images. First, the very high variability in the morphology of the tissues can be incompatible with the prior knowledge embedded within the algorithms. Second, the availability of MR images of distorted brains is very scarce, so the methods in the literature have not addressed such cases so far. In this work, we present the first evaluation of state-of-the-art automatic tissue segmentation pipelines on T1-weighted images of brains with different severity of congenital or acquired brain distortion. We compare traditional pipelines and a deep learning model, i.e. a 3D U-Net trained on normal-appearing brains. Unsurprisingly, traditional pipelines completely fail to segment the tissues with strong anatomical distortion. Surprisingly, the 3D U-Net provides useful segmentations that can be a valuable starting point for manual refinement by experts/neuroradiologists

Mindfulness-based stress reduction in Parkinson’s disease: a systematic review

Background: Mindfulness based stress reduction (MBSR) is increasingly being used to improve outcomes such as stress and depression in a range of long-term conditions (LTCs). While systematic reviews on MBSR have taken place for a number of conditions there remains limited information on its impact on individuals with Parkinson’s disease (PD). Methods: Medline, Central, Embase, Amed, CINAHAL were searched in March 2016. These databases were searched using a combination of MeSH subject headings where available and keywords in the title and abstracts. We also searched the reference lists of related reviews. Study quality was assessed based on questions from the Cochrane Collaboration risk of bias tool. Results: Two interventions and three papers with a total of 66 participants were included. The interventions were undertaken in Belgium (n = 27) and the USA (n = 39). One study reported significantly increased grey matter density (GMD) in the brains of the MBSR group compared to the usual care group. Significant improvements were reported in one study for a number of outcomes including PD outcomes, depression, mindfulness, and quality of life indicators. Only one intervention was of reasonable quality and both interventions failed to control for potential confounders in the analysis. Adverse events and reasons for drop-outs were not reported. There was also no reporting on the costs/benefits of the intervention or how they affected health service utilisation. Conclusion: This systematic review found limited and inconclusive evidence of the effectiveness of MBSR for PD patients. Both of the included interventions claimed positive effects for PD patients but significant outcomes were often contradicted by other results. Further trials with larger sample sizes, control groups and longer follow-ups are needed before the evidence for MBSR in PD can be conclusively judged

Access and utilisation of primary health care services comparing urban and rural areas of Riyadh Providence, Kingdom of Saudi Arabia

The Kingdom of Saudi Arabia (KSA) has seen an increase in chronic diseases. International evidence suggests that early intervention is the best approach to reduce the burden of chronic disease. However, the limited research available suggests that health care access remains unequal, with rural populations having the poorest access to and utilisation of primary health care centres and, consequently, the poorest health outcomes. This study aimed to examine the factors influencing the access to and utilisation of primary health care centres in urban and rural areas of Riyadh province of the KSA

Family members' experience with in-hospital health care after severe traumatic brain injury : a national multicentre study.

Background Family member’s experience and satisfaction of health care in the acute care and in-patient rehabilitation are important indicators of the quality of health care services provided to patients with severe traumatic brain injury (TBI). The objective was to assess family members’ experience of the health care provided in-hospital to patients with severe TBI, to relate experiences to family member and patient demographics, patients’ function and rehabilitation pathways. Methods Prospective national multicentre study of 122 family members of patients with severe TBI. The family experience of care questionnaire in severe traumatic brain injury (FECQ-TBI) was applied. Independent sample t-tests or analysis of variance (ANOVA) were used to compare the means between 2 or more groups. Paired samples t-tests were used to investigate differences between experience in the acute and rehabilitation phases. Results Best family members` experience were found regarding information during the acute phase, poorest scores were related to discharge. A significantly better care experience was reported in the acute phase compared with the rehabilitation phase (p &lt; 0.05). Worst family members` experience was related to information about consequences of the injury. Patient’s dependency level (p &lt; 0.05) and transferral to non-specialized rehabilitation were related to a worse family members` experience (p &lt; 0.01). Conclusions This study underscores the need of better information to family members of patients with severe TBI in the rehabilitation as well as the discharge phase. The results may be important to improve the services provided to family members and individuals with severe TBI

“It’s hard to tell”. The challenges of scoring patients on standardised outcome measures by multidisciplinary teams: a case study of Neurorehabilitation

Background Interest is increasing in the application of standardised outcome measures in clinical practice. Measures designed for use in research may not be sufficiently precise to be used in monitoring individual patients. However, little is known about how clinicians and in particular, multidisciplinary teams, score patients using these measures. This paper explores the challenges faced by multidisciplinary teams in allocating scores on standardised outcome measures in clinical practice. Methods Qualitative case study of an inpatient neurorehabilitation team who routinely collected standardised outcome measures on their patients. Data were collected using non participant observation, fieldnotes and tape recordings of 16 multidisciplinary team meetings during which the measures were recited and scored. Eleven clinicians from a range of different professions were also interviewed. Data were analysed used grounded theory techniques. Results We identified a number of instances where scoring the patient was 'problematic'. In 'problematic' scoring, the scores were uncertain and subject to revision and adjustment. They sometimes required negotiation to agree on a shared understanding of concepts to be measured and the guidelines for scoring. Several factors gave rise to this problematic scoring. Team members' knowledge about patients' problems changed over time so that initial scores had to be revised or dismissed, creating an impression of deterioration when none had occurred. Patients had complex problems which could not easily be distinguished from each other and patients themselves varied in their ability to perform tasks over time and across different settings. Team members from different professions worked with patients in different ways and had different perspectives on patients' problems. This was particularly an issue in the scoring of concepts such as anxiety, depression, orientation, social integration and cognitive problems. Conclusion From a psychometric perspective these problems would raise questions about the validity, reliability and responsiveness of the scores. However, from a clinical perspective, such characteristics are an inherent part of clinical judgement and reasoning. It is important to highlight the challenges faced by multidisciplinary teams in scoring patients on standardised outcome measures but it would be unwarranted to conclude that such challenges imply that these measures should not be used in clinical practice for decision making about individual patients. However, our findings do raise some concerns about the use of such measures for performance management

Mapping SF-36 onto the EQ-5D index: how reliable is the relationship?

<p>Abstract</p> <p>Background</p> <p>Mapping from health status measures onto generic preference-based measures is becoming a common solution when health state utility values are not directly available for economic evaluation. However the accuracy and reliability of the models employed is largely untested, and there is little evidence of their suitability in patient datasets. This paper examines whether mapping approaches are reliable and accurate in terms of their predictions for a large and varied UK patient dataset.</p> <p>Methods</p> <p>SF-36 dimension scores are mapped onto the EQ-5D index using a number of different model specifications. The predicted EQ-5D scores for subsets of the sample are compared across inpatient and outpatient settings and medical conditions. This paper compares the results to those obtained from existing mapping functions.</p> <p>Results</p> <p>The model including SF-36 dimensions, squared and interaction terms estimated using random effects GLS has the most accurate predictions of all models estimated here and existing mapping functions as indicated by MAE (0.127) and MSE (0.030). Mean absolute error in predictions by EQ-5D utility range increases with severity for our models (0.085 to 0.34) and for existing mapping functions (0.123 to 0.272).</p> <p>Conclusion</p> <p>Our results suggest that models mapping the SF-36 onto the EQ-5D have similar predictions across inpatient and outpatient setting and medical conditions. However, the models overpredict for more severe EQ-5D states; this problem is also present in the existing mapping functions.</p

The potential impact of climate change on Australia's soil organic carbon resources

BACKGROUND: Soil organic carbon (SOC) represents a significant pool of carbon within the biosphere. Climatic shifts in temperature and precipitation have a major influence on the decomposition and amount of SOC stored within an ecosystem and that released into the atmosphere. We have linked net primary production (NPP) algorithms, which include the impact of enhanced atmospheric CO(2 )on plant growth, to the SOCRATES terrestrial carbon model to estimate changes in SOC for the Australia continent between the years 1990 and 2100 in response to climate changes generated by the CSIRO Mark 2 Global Circulation Model (GCM). RESULTS: We estimate organic carbon storage in the topsoil (0–10 cm) of the Australian continent in 1990 to be 8.1 Gt. This equates to 19 and 34 Gt in the top 30 and 100 cm of soil, respectively. By the year 2100, under a low emissions scenario, topsoil organic carbon stores of the continent will have increased by 0.6% (49 Mt C). Under a high emissions scenario, the Australian continent becomes a source of CO(2 )with a net reduction of 6.4% (518 Mt) in topsoil carbon, when compared to no climate change. This is partially offset by the predicted increase in NPP of 20.3% CONCLUSION: Climate change impacts must be studied holistically, requiring integration of climate, plant, ecosystem and soil sciences. The SOCRATES terrestrial carbon cycling model provides realistic estimates of changes in SOC storage in response to climate change over the next century, and confirms the need for greater consideration of soils in assessing the full impact of climate change and the development of quantifiable mitigation strategies

General practitioners' evaluation of community psychiatric services: responsiveness to change of the General Practitioner Experiences Questionnaire (GPEQ)

<p>Abstract</p> <p>Background</p> <p>Instruments have been developed to assess professional views of the quality of care but have rarely been tested for responsiveness to change. The objective of this study was to test the responsiveness of the General Practitioner Experiences Questionnaire (GPEQ) for the measurement of Community Mental Health Centres in Norway.</p> <p>Methods</p> <p>National surveys were conducted in Norway in 2006 (n = 2,415) and 2008 (n = 2,209) to measure general practitioners' evaluation of community mental health centres. GPs evaluated the centres by means of a postal questionnaire, consisting of questions focused on centre quality and cooperation with GPs. As part of the national surveys 75 GPs in 2006 and 66 GPs in 2008 evaluated Hamar community mental health centre. Between the surveys, several quality improvement initiatives were implemented which were directed at cooperation with and guidance for GPs in Stange municipality, one of eight municipalities in Hamar centre catchment area. The main outcome measures were changes in GPEQ scores from 2006 to 2008 for GPs evaluating Hamar community mental health centre from Stange municipality, and changes in scores for GPs in the other seven municipalities and nationally which were assessed for statistical significance.</p> <p>Results</p> <p>GPs in Stange municipality rated Hamar community mental health centre significantly better on the guidance scale in 2008 than in 2006; on a 0-100 scale where 100 represents the best possible experiences the score was 26.5 in 2006 and 58.3 in 2008 (p < 0.001). Apart from one item about workforce situation, none of the other scales and items showed significant changes. The control group from the other seven municipalities gave significantly poorer rating for the emergency situation scale, the workforce situation scale and seven items in 2008 than in 2006. The national results showed small differences between 2006 and 2008, even though several scales and items were significantly different. A question about changes in centre performance over the last 2-3 years showed that 82% of GPs from Stange municipality reported that Hamar community mental health centre had improved, compared to only 36% from the other seven municipalities and 40% nationally which was statistically significant.</p> <p>Conclusions</p> <p>Following the implementation of an initiative designed to enhance service quality, the GPEQ identified expected changes in the guidance scale for the intervention group, indicating that the instrument is responsive to change. The worsening of services for GPs in the control group evaluating Hamar centre warrants further study.</p