208 research outputs found

    Gradient descent-based freeform optics design using algorithmic differentiable non-sequential ray tracing

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    Algorithmic differentiable ray tracing is a new paradigm that allows one to solve the forward problem of how light propagates through an optical system while obtaining gradients of the simulation results with respect to parameters specifying the optical system. Specifically, the use of algorithmically differentiable non-sequential ray tracing provides an opportunity in the field of illumination design. We demonstrate its potential by designing freeform lenses that project a prescribed irradiance distribution onto a plane. The challenge consists in finding a suitable surface geometry of the lens so that the light emitted by a light source is redistributed into a desired irradiance distribution. We discuss the crucial steps allowing the non-sequential ray tracer to be differentiable. The obtained gradients are used to optimize the geometry of the freeform, and we investigate the effectiveness of adding a multi-layer perceptron neural network to the optimization that outputs parameters defining the freeform lens. Lenses are designed for various sources such as collimated ray bundles or point sources, and finally, a grid of point sources approximating an extended source. The obtained lens designs are finally validated using the commercial non-sequential ray tracer LightTools

    Arthroscopic Meniscus Repair: Clinical and Isokinetic Results

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    The importance of the menisci for transmitting workloads in the knee joint to protect the articular cartilage is widely acknowledged. Therefore various techniques have been introduced to repair the damaged meniscus

    Fidelity in Archaeal Information Processing

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    A key element during the flow of genetic information in living systems is fidelity. The accuracy of DNA replication influences the genome size as well as the rate of genome evolution. The large amount of energy invested in gene expression implies that fidelity plays a major role in fitness. On the other hand, an increase in fidelity generally coincides with a decrease in velocity. Hence, an important determinant of the evolution of life has been the establishment of a delicate balance between fidelity and variability. This paper reviews the current knowledge on quality control in archaeal information processing. While the majority of these processes are homologous in Archaea, Bacteria, and Eukaryotes, examples are provided of nonorthologous factors and processes operating in the archaeal domain. In some instances, evidence for the existence of certain fidelity mechanisms has been provided, but the factors involved still remain to be identified

    Myoclonus-Ataxia Syndromes:A Diagnostic Approach

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    Item does not contain fulltextBACKGROUND: A myriad of disorders combine myoclonus and ataxia. Most causes are genetic and an increasing number of genes are being associated with myoclonus-ataxia syndromes (MAS), due to recent advances in genetic techniques. A proper etiologic diagnosis of MAS is clinically relevant, given the consequences for genetic counseling, treatment, and prognosis. OBJECTIVES: To review the causes of MAS and to propose a diagnostic algorithm. METHODS: A comprehensive and structured literature search following PRISMA criteria was conducted to identify those disorders that may combine myoclonus with ataxia. RESULTS: A total of 135 causes of combined myoclonus and ataxia were identified, of which 30 were charted as the main causes of MAS. These include four acquired entities: opsoclonus-myoclonus-ataxia syndrome, celiac disease, multiple system atrophy, and sporadic prion diseases. The distinction between progressive myoclonus epilepsy and progressive myoclonus ataxia poses one of the main diagnostic dilemmas. CONCLUSIONS: Diagnostic algorithms for pediatric and adult patients, based on clinical manifestations including epilepsy, are proposed to guide the differential diagnosis and corresponding work-up of the most important and frequent causes of MAS. A list of genes associated with MAS to guide genetic testing strategies is provided. Priority should be given to diagnose or exclude acquired or treatable disorders

    Using microarrays to identify positional candidate genes for QTL: the case study of ACTH response in pigs

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    Background: Microarray studies can supplement QTL studies by suggesting potential candidate genes in the QTL regions, which by themselves are too large to provide a limited selection of candidate genes. Here we provide a case study where we explore ways to integrate QTL data and microarray data for the pig, which has only a partial genome sequence. We outline various procedures to localize differentially expressed genes on the pig genome and link this with information on published QTL. The starting point is a set of 237 differentially expressed cDNA clones in adrenal tissue from two pig breeds, before and after treatment with adrenocorticotropic hormone (ACTH). Results: Different approaches to localize the differentially expressed (DE) genes to the pig genome showed different levels of success and a clear lack of concordance for some genes between the various approaches. For a focused analysis on 12 genes, overlapping QTL from the public domain were presented. Also, differentially expressed genes underlying QTL for ACTH response were described. Using the latest version of the draft sequence, the differentially expressed genes were mapped to the pig genome. This enabled co-location of DE genes and previously studied QTL regions, but the draft genome sequence is still incomplete and will contain many errors. A further step to explore links between DE genes and QTL at the pathway level was largely unsuccessful due to the lack of annotation of the pig genome. This could be improved by further comparative mapping analyses but this would be time consuming. Conclusion: This paper provides a case study for the integration of QTL data and microarray data for a species with limited genome sequence information and annotation. The results illustrate the challenges that must be addressed but also provide a roadmap for future work that is applicable to other non-model species

    Clinimetric evaluation of methods to measure muscle functioning in patients with non-specific neck pain: a systematic review

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    Contains fulltext : 69123.pdf (publisher's version ) (Open Access)BACKGROUND: Neck pain is a significant health problem in modern society. There is evidence to suggest that neck muscle strength is reduced in patients with neck pain. This article provides a critical analysis of the research literature on the clinimetric properties of tests to measure neck muscle strength or endurance in patients with non-specific neck pain, which can be used in daily practice. METHODS: A computerised literature search was performed in the Medline, CINAHL and Embase databases from 1980 to January 2007. Two reviewers independently assessed the clinimetric properties of identified measurement methods, using a checklist of generally accepted criteria for reproducibility (inter- and intra-observer reliability and agreement), construct validity, responsiveness and feasibility. RESULTS: The search identified a total of 16 studies. The instruments or tests included were: muscle endurance tests for short neck flexors, craniocervical flexion test with an inflatable pressure biofeedback unit, manual muscle testing of neck musculature, dynamometry and functional lifting tests (the cervical progressive iso-inertial lifting evaluation (PILE) test and the timed weighted overhead test). All the articles included report information on the reproducibility of the tests. Acceptable intra- and inter-observer reliability was demonstrated for t enduranctest for short neck flexors and the cervical PILE test. Construct validity and responsiveness have hardly been documented for tests on muscle functioning. CONCLUSION: The endurance test of the short neck flexors and the cervical PILE test can be regarded as appropriate instruments for measuring different aspects of neck muscle function in patients with non-specific neck pain. Common methodological flaws in the studies were their small sample size and an inappropriate description of the study design

    Screening for type 2 diabetes in a high-risk population: Study design and feasibility of a population-based randomized controlled trial

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    Background: We describe the design and present the results of the first year of a population-based study of screening for type 2 diabetes in individuals at high risk of developing the disease. High risk is defined as having abdominal obesity. Methods. Between 2006 and 2007, 79,142 inhabitants of two Dutch municipalities aged 40-74 years were approached to participate in screening. Eligible participants had a self-reported waist circumference of 80 cm for women and 94 cm for men, and no known pre-existing diabetes. Of the respondents (n=20,578; response rate 26%), 16,135 were abdominally obese. In total, 10,609 individuals gave written informed consent for participation and were randomized into either the screening (n=5305) or the control arm (n=5304). Participants in the screening arm were invited to have their fasting plasma glucose (FPG) measured and were referred to their general practitioner (GP) if it was 6.1 mmol/L. In addition, blood lipids were determined in the screening arm, because abdominal obesity is often associated with cardiovascular risk factors. Participants in both arms received written healthy lifestyle information. Between-group differences were analyzed with Chi-square tests and logistic regression (categorical variables) and unpaired t-tests (continuous variables). Results: The screening attendance rate was 84.1%. Attending screening was associated with age at randomization (OR=1.03, 95% CI 1.02-1.04), being married (OR=1.57, 95% CI 1.33-1.83) and not-smoking currently (OR=0.52, 95% CI 0.44-0.62). Of the individuals screened, 5.6% had hyperglycemia, and a further 11.6% had an estimated absolute cardiovascular disease risk of 5% or higher, according to the Systematic Coronary Risk Evaluation risk model. These participants were referred to their GP. Conclusions: Self-reported home-assessed waist circumference could feasibly detect persons at high risk of hyperglycemia or cardiovascular disease. Continuation of the large-scale RCT is warranted to test the hypothesis that targeted population-based screening for type 2 diabetes leads to a significant reduction in cardiovascular morbidity and mortality

    Rare inborn errors of metabolism with movement disorders:a case study to evaluate the impact upon quality of life and adaptive functioning

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    Background: Inborn errors of metabolism (IEM) form an important cause of movement disorders in children. The impact of metabolic diseases and concordant movement disorders upon children's health-related quality of life (HRQOL) and its physical and psychosocial domains of functioning has never been investigated. We therefore conducted a case study on the HRQOL and development of adaptive functioning in children with an IEM and a movement disorder. Methods: Children with co-existent IEM and movement disorders were recruited from paediatric outpatient clinics. We systematically collected clinical data and videotaped examinations. The movement disorders were diagnosed by a panel of specialists. The Pediatric Quality of Life Inventory 4.0 and the Vineland Adaptive Behavior Scale were used to assess the HRQOL and adaptive functioning, respectively. Results: We recruited 24 children (10 boys, mean age 7y 5 m). Six types of movement disorders were recognised by the expert panel, most frequently dystonia (16/24), myoclonus (7/24) and ataxia (6/24). Mean HRQOL (49.63, SD 21.78) was significantly lower than for other chronic disorders in childhood (e.g. malignancy, diabetes mellitus, rheumatic disease, psychiatric disorders; p Conclusions: A broad spectrum of movement disorders was seen in patients with IEM, although only five were receiving treatment. The overall HRQOL in this population is significantly reduced. Delay in adaptive functioning, most frequently seen in relation to activities of daily living, and the severity of the movement disorder contribute to this lower HRQOL. We plead for a greater awareness of movement disorders and that specialists should be asked to diagnose and treat these wherever possible
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