Interpreting sources of variation in clinical gait analysis: a case study

Objective: To illustrate and discuss sources of gait deviations (experimental, genuine and intentional) during a gait analysis and how these deviations inform clinical decision making. Methods A case study of a 24-year old male diagnosed with Alkaptonuria undergoing a routine gait analysis. A 3D motion capture with the Helen-Hayes marker set was used to quantify lower-limb joint kinematics during barefoot walking along a 10 m walkway at a self-selected pace. Additional 2D video data were recorded in the sagittal and frontal plane. The patient reported no aches or pains in any joint and described his lifestyle as active. Results: Temporal-spatial parameters were within normal ranges for his age and sex. Three sources of gait deviations were identified; the posteriorly rotated pelvis was due to an experimental error and marker misplacement, the increased rotation of the pelvis in the horizontal plane was genuine and observed in both 3D gait curves and in 2D video analysis, finally the inconsistency in knee flexion/extension combined with a seemingly innocuous interest in the consequences of abnormal gait suggested an intentional gait deviation. Conclusions: Gait analysis is an important analytical tool in the management of a variety of conditions that negatively impact on movement. Experienced gait analysts have the ability to recognise genuine gait adaptations that forms part of the decision-making process for that patient. However, their role also necessitates the ability to identify and correct for experimental errors and critically evaluate when a deviation may not be genuine

Age related deviation of gait from normality in alkaptonuria.

Alkaptonuria is a rare metabolic disease leading to systemic changes including early and severe arthropathy which affects mobility. Due to unknown reasons, the onset of degenerative changes is delayed to around 30 years of age when both objective and subjective symptoms develop. In order to complement describing the structural changes in alkaptonuria with measures of movement function, clinical gait analysis was added to the list of assessments in 2013. The aim of this study was to describe the deviation of gait from normality as a function of age in patients with alkaptonuria. Three-dimensional movement of reflective markers attached to joints were captured during walking in 39 patients and 10 controls. Subsequent to processing the data to emphasise the shape of marker trajectories, the mean Movement Deviation Profile was generated for all participants. This single number measure gives the deviation of a patient’s gait from a distributed definition of gait normality. Results showed that gait deviation roughly follows a sigmoid profile with minimal increase of gait deviations in a younger patient group and an abrupt large increase around the second half of the 4th decade of life. Larger variations of gait deviations were found in the older group than in the younger group suggesting a complex interaction of multiple factors which determine gait function after symptoms manifest. Continued gait analysis of adults with AKU, extended to younger adults and children with AKU, is expected to complete understanding of both the natural history of alkaptonuria and how interventions can affect movement function

Consensus of travel direction is achieved by simple copying, not voting, in free-ranging goats

For group-living animals to remain cohesive they must agree on where to travel. Theoretical models predict shared group decisions should be favoured, and a number of empirical examples support this. However, the behavioural mechanisms that underpin shared decision-making are not fully understood. Groups may achieve consensus of direction by active communication of individual preferences (i.e. voting), or by responding to each other's orientation and movement (i.e. copying). For example, African buffalo (Syncerus caffer) are reported to use body orientation to vote and indicate their preferred direction to achieve a consensus on travel direction, while golden shiners (Notemigonus crysoleucas) achieve consensus of direction by responding to the movement cues of their neighbours. Here, we present a conceptual model (supported by agent-based simulations) that allows us to distinguish patterns of motion that represent voting or copying. We test our model predictions using high-resolution GPS and magnetometer data collected from a herd of free-ranging goats (Capra aegagrus hircus) in the Namib Desert, Namibia. We find that decisions concerning travel direction were more consistent with individuals copying one another's motion and find no evidence to support the use of voting with body orientation. Our findings highlight the role of simple behavioural rules for collective decision-making by animal groups

The political economy of the disability insurance: theory and evidence of gubernatorial learning

Abstract The dramatic rise in the disability insurance (DI) rolls in the last 20 years has been the subject of much controversy. While the relationship between DI and labor force participation has been the subject of a growing literature, the mechanism of this transition from employment to DI remains unclear. We hypothesize that one mechanism is the state-level administration of the program which creates a classic principal-agent problem. We analyze the conflict of interests for Disability Determination Services agencies between Social Security Administration (SSA) standards and state gubernatorial political interests interacted with the increased demand for disability insurance as an alternative for low-skilled employment during the period of 1982 to 2013. We find evidence that multi-term governors allow a greater fraction of applicants than do first-term governors, but only up to year 2000, when allowance rates started to decrease over time. We develop a model that illustrates how these differences can be due to the type of monitoring conducted by the SSA. We provide additional evidence supporting this hypothesis analyzing how the effects interact with economic and political constraints. JEL codes H55, I18, I38, G22</jats:p

Generic system for human-computer gesture interaction: applications on sign language recognition and robotic soccer refereeing

Hand gestures are a powerful way for human communication, with lots of potential applications in the area of human computer interaction. Vision-based hand gesture recognition techniques have many proven advantages compared with traditional devices, giving users a simpler and more natural way to communicate with electronic devices. This work proposes a generic system architecture based in computer vision and machine learning, able to be used with any interface for human-computer interaction. The proposed solution is mainly composed of three modules: a pre-processing and hand segmentation module, a static gesture interface module and a dynamic gesture interface module. The experiments showed that the core of visionbased interaction systems could be the same for all applications and thus facilitate the implementation. For hand posture recognition, a SVM (Support Vector Machine) model was trained and used, able to achieve a final accuracy of 99.4%. For dynamic gestures, an HMM (Hidden Markov Model) model was trained for each gesture that the system could recognize with a final average accuracy of 93.7%. The proposed solution as the advantage of being generic enough with the trained models able to work in real-time, allowing its application in a wide range of human-machine applications. To validate the proposed framework two applications were implemented. The first one is a real-time system able to interpret the Portuguese Sign Language. The second one is an online system able to help a robotic soccer game referee judge a game in real time

People of the British Isles: preliminary analysis of genotypes and surnames in a UK control population

There is a great deal of interest in fine scale population structure in the UK, both as a signature of historical immigration events and because of the effect population structure may have on disease association studies. Although population structure appears to have a minor impact on the current generation of genome-wide association studies, it is likely to play a significant part in the next generation of studies designed to search for rare variants. A powerful way of detecting such structure is to control and document carefully the provenance of the samples involved. Here we describe the collection of a cohort of rural UK samples (The People of the British Isles), aimed at providing a well-characterised UK control population that can be used as a resource by the research community as well as providing fine scale genetic information on the British population. So far, some 4,000 samples have been collected, the majority of which fit the criteria of coming from a rural area and having all four grandparents from approximately the same area. Analysis of the first 3,865 samples that have been geocoded indicates that 75% have a mean distance between grandparental places of birth of 37.3km, and that about 70% of grandparental places of birth can be classed as rural. Preliminary genotyping of 1,057 samples demonstrates the value of these samples for investigating fine scale population structure within the UK, and shows how this can be enhanced by the use of surnames

Immunological characteristics and T cell receptor clonal diversity in children with systemic juvenile idiopathic arthritis undergoing T cell depleted autologous stem cell transplantation.

Children with systemic Juvenile Idiopathic Arthritis (sJIA), the most severe subtype of JIA, are at risk of from destructive polyarthritis and growth failure, and corticosteroids as part of conventional treatment can result in osteoporosis and growth delay. In children where there is failure or toxicity from drug therapies, disease has been successfully controlled by T cell depleted autologous stem cell transplantation (ASCT). At present, the immunological basis underlying remission post ASCT is unknown. Immune reconstitution of T, B, NK, NK-T cell and monocytes, in parallel with T cell receptor diversity by analysis of beta variable region (TCRVb) complementarity determining region-3 (CDR3) using spectratyping and sequencing, were studied in 5 children with sJIA before and after ASCT. At time of follow up (mean 11.5 years), 4 patients remain in complete remission, while 1 child had relapsed within 1 month of transplant. The CD8(+) TCRVb repertoire was highly oligoclonal early in immune reconstitution and re-emergence of pre-transplant TCRVb CDR3 dominant peaks was observed post transplant in certain TCRVb families. Further, re-emergence of pre-ASCT clonal sequences in addition to new sequences was identified post transplant. These results suggest that a chimeric TCR repertoire, comprising T cell clones developed before and after transplant, can be associated with clinical remission from severe arthritis. This article is protected by copyright. All rights reserved

Discovery of Rare Variants via Sequencing: Implications for the Design of Complex Trait Association Studies

There is strong evidence that rare variants are involved in complex disease etiology. The first step in implicating rare variants in disease etiology is their identification through sequencing in both randomly ascertained samples (e.g., the 1,000 Genomes Project) and samples ascertained according to disease status. We investigated to what extent rare variants will be observed across the genome and in candidate genes in randomly ascertained samples, the magnitude of variant enrichment in diseased individuals, and biases that can occur due to how variants are discovered. Although sequencing cases can enrich for casual variants, when a gene or genes are not involved in disease etiology, limiting variant discovery to cases can lead to association studies with dramatically inflated false positive rates

Using structural equation modeling to detect response shift in performance and health-related quality of life scores of multiple sclerosis patients

To illustrate how structural equation modeling (SEM) can be used for response shift detection with random measurement occasions and health state operationalized as fixed group membership (Study 1) or with fixed measurement occasions and health state operationalized as time-varying covariates (Study 2). In Study 1, we explored seven items of the Performance Scales measuring physical and mental aspects of perceived disability of 771 stable, 629 progressive, and 1,552 relapsing MS patients. Time lags between the three measurements varied and were accounted for by introducing time since diagnosis as an exogenous variable. In Study 2, we considered the SF-12 scales measuring physical and mental components of HRQoL of 1,767 patients. Health state was accounted for by exogenous variables relapse (yes/no) and symptoms (worse/same/better). In Study 1, progressive and relapsing patients reported greater disability than stable patients but little longitudinal change. Some response shift was found with stable and relapsing patients. In Study 2, relapse and symptoms were associated with HRQoL, but no change and only little response shift was found. While small response shifts were found, they had little impact on the evaluation of true change in performance and HRQo