| 1. |
- Palmer, Elizabeth E., et al.
(författare)
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Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
- 2023
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Ingår i: Molecular Psychiatry. - : SPRINGERNATURE. - 1359-4184 .- 1476-5578. ; 28:2, s. 668-697
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Tidskriftsartikel (refereegranskat)abstract
- Missense and truncating variants in the X-chromosome-linked CLCN4 gene, resulting in reduced or complete loss-of-function (LOF) of the encoded chloride/proton exchanger ClC-4, were recently demonstrated to cause a neurocognitive phenotype in both males and females. Through international clinical matchmaking and interrogation of public variant databases we assembled a database of 90 rare CLCN4 missense variants in 90 families: 41 unique and 18 recurrent variants in 49 families. For 43 families, including 22 males and 33 females, we collated detailed clinical and segregation data. To confirm causality of variants and to obtain insight into disease mechanisms, we investigated the effect on electrophysiological properties of 59 of the variants in Xenopus oocytes using extended voltage and pH ranges. Detailed analyses revealed new pathophysiological mechanisms: 25% (15/59) of variants demonstrated LOF, characterized by a "shift" of the voltage-dependent activation to more positive voltages, and nine variants resulted in a toxic gain-of-function, associated with a disrupted gate allowing inward transport at negative voltages. Functional results were not always in line with in silico pathogenicity scores, highlighting the complexity of pathogenicity assessment for accurate genetic counselling. The complex neurocognitive and psychiatric manifestations of this condition, and hitherto under-recognized impacts on growth, gastrointestinal function, and motor control are discussed. Including published cases, we summarize features in 122 individuals from 67 families with CLCN4-related neurodevelopmental condition and suggest future research directions with the aim of improving the integrated care for individuals with this diagnosis.
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| 2. |
- Auer-Grumbach, Michaela, et al.
(författare)
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Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies
- 2016
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Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 99:3, s. 607-623
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Tidskriftsartikel (refereegranskat)abstract
- Axonal polyneuropathies are a frequent cause of progressive disability in the elderly. Common etiologies comprise diabetes mellitus, paraproteinaemia, and inflammatory disorders, but often the underlying causes remain elusive. Late-onset axonal Charcot-Marie-Tooth neuropathy (CMT2) is an autosomal-dominantly inherited condition that manifests in the second half of life and is genetically largely unexplained. We assumed age-dependent penetrance of mutations in a so far unknown gene causing late-onset CMT2. We screened 51 index case subjects with late-onset CMT2 for mutations by whole-exome (WES) and Sanger sequencing and subsequently queried WES repositories for further case subjects carrying mutations in the identified candidate gene. We studied nerve pathology and tissue levels and function of the abnormal protein in order to explore consequences of the mutations. Altogether, we observed heterozygous rare loss-of-function and missense mutations in MME encoding the metalloprotease neprilysin in 19 index case subjects diagnosed with axonal polyneuropathies or neurodegenerative conditions involving the peripheral nervous system. MME mutations segregated in an autosomal-dominant fashion with age-related incomplete penetrance and some affected individuals were isolated case subjects. We also found that MME mutations resulted in strongly decreased tissue availability of neprilysin and impaired enzymatic activity. Although neprilysin is known to degrade beta-amyloid, we observed no increased amyloid deposition or increased incidence of dementia in individuals with MME mutations. Detection of MME mutations is expected to increase the diagnostic yield in late-onset polyneuropathies, and it will be tempting to explore whether substances that can elevate neprilysin activity could be a rational option for treatment.
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| 3. |
- Beetz, Michael, et al.
(författare)
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AI Reasoning Methods for Robotics
- 2016. - 2
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Ingår i: Springer Handbook of Robotics. - : Springer. - 9783319325521 ; , s. 329-356
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Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- Artificial intelligence (AI) reasoning technology involving, e.g., inference, planning, and learning, has a track record with a healthy number of successful applications. So can it be used as a toolbox of methods for autonomous mobile robots? Not necessarily, as reasoning on a mobile robot about its dynamic, partially known environment may differ substantially from that in knowledge-based pure software systems, where most of the named successes have been registered. Moreover, recent knowledge about the robot’s environment cannot be given a priori, but needs to be updated from sensor data, involving challenging problems of symbol grounding and knowledge base change. This chapter sketches the main robotics relevant topics of symbol-based AI reasoning. Basic methods of knowledge representation and inference are described in general, covering both logic and probability-based approaches. The chapter first gives a motivation by example, to what extent symbolic reasoning has the potential of helping robots perform in the first place. Then (Sect. 14.2), we sketch the landscape of representation languages available for the endeavor. After that (Sect. 14.3), we present approaches and results for several types of practical, robotics-related reasoning tasks, with an emphasis on temporal and spatial reasoning. Plan-based robot control is described in some more detail in Sect. 14.4. Section 14.5 concludes.
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| 4. |
- Beetz, Michael, et al.
(författare)
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Causal Models of Mobile Service Robot Behavior
- 1998
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- Temporal projection, the process of predicting what will happen when a robot executes its plan, is essential for autonomous service robots to successfully plan their missions. This paper describes a causal model of the behavior exhibited by the mobile robot RHINO when running concurrent reactive plans for performing office delivery jobs. The model represents aspects of robot behavior that cannot be represented by most action models used in AI planning: it represents the temporal structure of continuous control processes, several modes of their interferences, and various kinds of uncertainty. This enhanced expressiveness enables XFRM, a robot planning system, to predict, and therefore forestall, various kinds of behavior flaws including missed deadlines whilst exploiting incidental opportunities. The proposed causal model is experimentally validated using the robot and its simulator.
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| 5. |
- Bohg, Jeannette, 1981-
(författare)
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Multi-Modal Scene Understanding for Robotic Grasping
- 2011
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Current robotics research is largely driven by the vision of creatingan intelligent being that can perform dangerous, difficult orunpopular tasks. These can for example be exploring the surface of planet mars or the bottomof the ocean, maintaining a furnace or assembling a car. They can also be more mundane such as cleaning an apartment or fetching groceries. This vision has been pursued since the 1960s when the first robots were built. Some of the tasks mentioned above, especially those in industrial manufacturing, arealready frequently performed by robots. Others are still completelyout of reach. Especially, household robots are far away from beingdeployable as general purpose devices. Although advancements have beenmade in this research area, robots are not yet able to performhousehold chores robustly in unstructured and open-ended environments givenunexpected events and uncertainty in perception and execution.In this thesis, we are analyzing which perceptual andmotor capabilities are necessaryfor the robot to perform common tasks in a household scenario. In that context, an essential capability is tounderstand the scene that the robot has to interact with. This involvesseparating objects from the background but also from each other.Once this is achieved, many other tasks becomemuch easier. Configuration of objectscan be determined; they can be identified or categorized; their pose can be estimated; free and occupied space in the environment can be outlined.This kind of scene model can then inform grasp planning algorithms to finally pick up objects.However, scene understanding is not a trivial problem and evenstate-of-the-art methods may fail. Given an incomplete, noisy andpotentially erroneously segmented scene model, the questions remain howsuitable grasps can be planned and how they can be executed robustly.In this thesis, we propose to equip the robot with a set of predictionmechanisms that allow it to hypothesize about parts of the sceneit has not yet observed. Additionally, the robot can alsoquantify how uncertain it is about this prediction allowing it toplan actions for exploring the scene at specifically uncertainplaces. We consider multiple modalities includingmonocular and stereo vision, haptic sensing and information obtainedthrough a human-robot dialog system. We also study several scene representations of different complexity and their applicability to a grasping scenario. Given an improved scene model from this multi-modalexploration, grasps can be inferred for each objecthypothesis. Dependent on whether the objects are known, familiar orunknown, different methodologies for grasp inference apply. In thisthesis, we propose novel methods for each of these cases. Furthermore,we demonstrate the execution of these grasp both in a closed andopen-loop manner showing the effectiveness of the proposed methods inreal-world scenarios.
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| 6. |
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| 7. |
- Crespo, Jonathan, et al.
(författare)
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Reasoning systems for semantic navigation in mobile robots
- 2018
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Ingår i: 2018 IEEE/RSJ INTERNATIONAL CONFERENCE ON INTELLIGENT ROBOTS AND SYSTEMS (IROS). - : IEEE. - 9781538680940 ; , s. 5654-5659
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Konferensbidrag (refereegranskat)abstract
- Semantic navigation is the navigation paradigm in which environmental semantic concepts and their relationships are taken into account to plan the route of a mobile robot. This paradigm facilitates the interaction with humans and the understanding of human environments in terms of navigation goals and tasks. At the high level, a semantic navigation system requires two main components: a semantic representation of the environment, and a reasoning system. This paper is focused on develop a model of the environment using semantic concepts. This paper presents two solutions for the semantic navigation paradigm. Both systems implement an ontological model. Whilst the first one uses a relational database, the second one is based on KnowRob. Both systems have been integrated in a semantic navigator. We compare both systems at the qualitative and quantitative levels, and present an implementation on a mobile robot as a proof of concept.
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| 8. |
- Dhanabalachandran, Kaviya, et al.
(författare)
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A balancing act : Ordering algorithm and image-schematic action descriptors for stacking objects by household robots
- 2022
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Ingår i: Proceedings of the Joint Ontology Workshops 2022, Episode VIII: The Svear Sommar of Ontology. - : CEUR-WS.
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Konferensbidrag (refereegranskat)abstract
- Optimising object order in stacking problems remains a hard problem for cognitive robotics research. In this paper, we continue our work on using the spatiotemporal relationships called image schemas to represent affordance spaces founded on object properties. Based on object properties, we introduce a stacking-order algorithm and describe the action descriptors using an image-schematic event segmentation format by describing a small subset using the Image Schema Logic ISL???.
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| 9. |
- Dhanabalachandran, Kaviya, et al.
(författare)
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Cutting Events : Towards Autonomous Plan Adaption by Robotic Agents through Image-Schematic Event Segmentation
- 2021
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Ingår i: Proceedings of the 11th on Knowledge Capture Conference. - New York, NY, USA : ACM Digital Library. - 9781450384575 ; , s. 25-32
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Konferensbidrag (refereegranskat)abstract
- Autonomous robots struggle with plan adaption in uncertain and changing environments. Although modern robots can make popcorn and pancakes, they are incapable of performing such tasks in unknown settings and unable to adapt action plans if ingredients or tools are missing. Humans are continuously aware of their surroundings. For robotic agents, real-time state updating is time-consuming and other methods for failure handling are required. Taking inspiration from human cognition, we propose a plan adaption method based on event segmentation of the image-schematic states of subtasks within action descriptors. For this, we reuse action plans of the robotic architecture CRAM and ontologically model the involved objects and image-schematic states of the action descriptor cutting. Our evaluation uses a robot simulation of the task of cutting bread and demonstrates that the system can reason about possible solutions to unexpected failures regarding tool use.
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| 10. |
- Dhanabalachandran, Kaviya, et al.
(författare)
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Getting on top of things : Towards intelligent robotic object stacking through image-schematic reasoning
- 2022
-
Ingår i: Proceedings of the Sixth Image Schema Day 2022. - : CEUR-WS.
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Konferensbidrag (refereegranskat)abstract
- In this extended abstract, we present initial work on intelligent object stacking by household robots using a symbolic approach grounded in image schema research. Image schemas represent spatiotemporal relationships that capture objects’ affordances and dispositions. Therefore, they offer the first step to ground semantic information in symbolic descriptions. We hypothesise that for a robot to successfully stack objects of different dispositions, these relationships can be used to more intelligently identify both task constraints and relevant event segments.
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| 11. |
- Ebrahimi-Fakhari, Darius, et al.
(författare)
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Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
- 2020
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Ingår i: Brain. - OXFORD ENGLAND : Oxford University Press (OUP). - 0006-8950 .- 1460-2156. ; 143:10, s. 2929-2944
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Tidskriftsartikel (refereegranskat)abstract
- Bi-allelic loss-of-function variants in genes that encode subunits of the adaptor protein complex 4 (AP-4) lead to prototypical yet poorly understood forms of childhood-onset and complex hereditary spastic paraplegia: SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1) and SPG52 (AP4S1). Here, we report a detailed cross-sectional analysis of clinical, imaging and molecular data of 156 patients from 101 families. Enrolled patients were of diverse ethnic backgrounds and covered a wide age range (1.0-49.3 years). While the mean age at symptom onset was 0.8 +/- 0.6 years [standard deviation (SD), range 0.2-5.0], the mean age at diagnosis was 10.2 +/- 8.5 years (SD, range 0.1-46.3). We define a set of core features: early-onset developmental delay with delayed motor milestones and significant speech delay (50% non-verbal); intellectual disability in the moderate to severe range; mild hypotonia in infancy followed by spastic diplegia (mean age: 8.4 +/- 5.1 years, SD) and later tetraplegia (mean age: 16.1 +/- 9.8 years, SD); postnatal microcephaly (83%); foot deformities (69%); and epilepsy (66%) that is intractable in a subset. At last follow-up, 36% ambulated with assistance (mean age: 8.9 +/- 6.4 years, SD) and 54% were wheelchair-dependent (mean age: 13.4 +/- 9.8 years, SD). Episodes of stereotypic laughing, possibly consistent with a pseudobulbar affect, were found in 56% of patients. Key features on neuroimaging include a thin corpus callosum (90%), ventriculomegaly (65%) often with colpocephaly, and periventricular white-matter signal abnormalities (68%). Iron deposition and polymicrogyria were found in a subset of patients. AP4B1-associated SPG47 and AP4M1-associated SPG50 accounted for the majority of cases. About two-thirds of patients were born to consanguineous parents, and 82% carried homozygous variants. Over 70 unique variants were present, the majority of which are frameshift or nonsense mutations. To track disease progression across the age spectrum, we defined the relationship between disease severity as measured by several rating scales and disease duration. We found that the presence of epilepsy, which manifested before the age of 3 years in the majority of patients, was associated with worse motor outcomes. Exploring genotype-phenotype correlations, we found that disease severity and major phenotypes were equally distributed among the four subtypes, establishing that SPG47, SPG50, SPG51 and SPG52 share a common phenotype, an 'AP-4 deficiency syndrome'. By delineating the core clinical, imaging, and molecular features of AP-4-associated hereditary spastic paraplegia across the age spectrum our results will facilitate early diagnosis, enable counselling and anticipatory guidance of affected families and help define endpoints for future interventional trials.
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| 12. |
- Heintz, Fredrik, 1975-
(författare)
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DyKnow : A Stream-Based Knowledge Processing Middleware Framework
- 2009
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- As robotic systems become more and more advanced the need to integrate existing deliberative functionalities such as chronicle recognition, motion planning, task planning, and execution monitoring increases. To integrate such functionalities into a coherent system it is necessary to reconcile the different formalisms used by the functionalities to represent information and knowledge about the world. To construct and integrate these representations and maintain a correlation between them and the environment it is necessary to extract information and knowledge from data collected by sensors. However, deliberative functionalities tend to assume symbolic and crisp knowledge about the current state of the world while the information extracted from sensors often is noisy and incomplete quantitative data on a much lower level of abstraction. There is a wide gap between the information about the world normally acquired through sensing and the information that is assumed to be available for reasoning about the world.As physical autonomous systems grow in scope and complexity, bridging the gap in an ad-hoc manner becomes impractical and inefficient. Instead a principled and systematic approach to closing the sensereasoning gap is needed. At the same time, a systematic solution has to be sufficiently flexible to accommodate a wide range of components with highly varying demands. We therefore introduce the concept of knowledge processing middleware for a principled and systematic software framework for bridging the gap between sensing and reasoning in a physical agent. A set of requirements that all such middleware should satisfy is also described.A stream-based knowledge processing middleware framework called DyKnow is then presented. Due to the need for incremental refinement of information at different levels of abstraction, computations and processes within the stream-based knowledge processing framework are modeled as active and sustained knowledge processes working on and producing streams. DyKnow supports the generation of partial and context dependent stream-based representations of past, current, and potential future states at many levels of abstraction in a timely manner.To show the versatility and utility of DyKnow two symbolic reasoning engines are integrated into Dy-Know. The first reasoning engine is a metric temporal logical progression engine. Its integration is made possible by extending DyKnow with a state generation mechanism to generate state sequences over which temporal logical formulas can be progressed. The second reasoning engine is a chronicle recognition engine for recognizing complex events such as traffic situations. The integration is facilitated by extending DyKnow with support for anchoring symbolic object identifiers to sensor data in order to collect information about physical objects using the available sensors. By integrating these reasoning engines into DyKnow, they can be used by any knowledge processing application. Each integration therefore extends the capability of DyKnow and increases its applicability.To show that DyKnow also has a potential for multi-agent knowledge processing, an extension is presented which allows agents to federate parts of their local DyKnow instances to share information and knowledge.Finally, it is shown how DyKnow provides support for the functionalities on the different levels in the JDL Data Fusion Model, which is the de facto standard functional model for fusion applications. The focus is not on individual fusion techniques, but rather on an infrastructure that permits the use of many different fusion techniques in a unified framework.The main conclusion of this thesis is that the DyKnow knowledge processing middleware framework provides appropriate support for bridging the sense-reasoning gap in a physical agent. This conclusion is drawn from the fact that DyKnow has successfully been used to integrate different reasoning engines into complex unmanned aerial vehicle (UAV) applications and that it satisfies all the stated requirements for knowledge processing middleware to a significant degree.
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| 13. |
- Marton, Zoltan-Csaba, et al.
(författare)
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Cumulative Object Categorization in Clutter
- 2013
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Ingår i: Robotics: Science and Systems.
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Konferensbidrag (refereegranskat)abstract
- In this paper we present an approach based on scene- or part-graphs for geometrically categorizing touching and occluded objects, using additive RGBD feature descriptors and hashing of graph configuration parameters for describing the spatial arrangement of constituent parts. The presented experiments quantify that this method outperforms our earlier part-voting and sliding window classification. We evaluated our approach on cluttered scenes, and by using a 3D dataset containing over 15000 Kinect scans of over 100 objects which were grouped into general geometric categories. Additionally, color, geometric, and combined features were compared for categorization tasks.
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| 14. |
- Novianto, Rony, et al.
(författare)
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Classical conditioning in social robots
- 2014
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Ingår i: Social Robotics : 6th International Conference, ICSR 2014, Proceedings - 6th International Conference, ICSR 2014, Proceedings. - Cham : Springer International Publishing. - 1611-3349 .- 0302-9743. - 9783319119724 ; 8755, s. 279-289
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Konferensbidrag (refereegranskat)abstract
- Classical conditioning is important in humans to learn and predict events in terms of associations between stimuli and to produce responses based on these associations. Social robots that have a classical conditioning skill like humans will have an advantage to interact with people more naturally, socially and effectively. In this paper, we present a novel classical conditioning mechanism and describe its implementation in ASMO cognitive architecture. The capability of this mechanism is demonstrated in the Smokey robot companion experiment. Results show that Smokey can associate stimuli and predict events in its surroundings. ASMO’s classical conditioning mechanism can be used in social robots to adapt to the environment and to improve the robots’ performances.
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| 15. |
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| 16. |
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| 17. |
- Vivier, Pierre-Hugues, et al.
(författare)
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Standardization of pediatric uroradiological terms : A multidisciplinary European glossary
- 2017
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Ingår i: Journal of Pediatric Urology. - : Elsevier BV. - 1477-5131 .- 1873-4898. ; 13:6, s. 641-650
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- To promote the standardization of nephro-uroradiological terms used in children, the European Society of Pediatric Radiology uroradiology taskforce wrote a detailed glossary. This work has been subsequently submitted to European experts in pediatric urology and nephrology for discussion and acceptance to improve the quality of radiological reports and communication among different clinicians involved in pediatric urology and nephrology.
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| 18. |
- Vivier, Pierre-Hugues, et al.
(författare)
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Standardization of pediatric uroradiological terms : a multidisciplinary European glossary
- 2018
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Ingår i: Pediatric Radiology. - : SPRINGER. - 0301-0449 .- 1432-1998. ; 48:2, s. 291-303
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Tidskriftsartikel (refereegranskat)abstract
- To promote the standardization of nephro-uroradiological terms used in children, the European Society of Paediatric Radiology uroradiology taskforce wrote a detailed glossary. This work has been subsequently submitted to European experts in pediatric urology and nephrology for discussion and acceptance to improve the quality of radiological reports and communication between different clinicians involved in pediatric urology and nephrology.
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| 19. |
- Wykowska, Agnieszka, et al.
(författare)
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How humans optimize their interaction with the environment : The impact of action context on human perception
- 2009
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Ingår i: Communications in Computer and Information Science. - Berlin, Heidelberg : Springer Berlin Heidelberg. - 1865-0929 .- 1865-0937. ; 44, s. 162-172
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Tidskriftsartikel (refereegranskat)abstract
- Humans have developed various mechanisms to optimize interaction with the environment. Optimization of action planning requires efficient selection of action-relevant features. Selection might also depend on the environmental context in which an action takes place. The present study investigated how action context influences perceptual processing in action planning. The experimental paradigm comprised two independent tasks: (1) a perceptual visual search task and (2) a grasping or a pointing movement. Reaction times in the visual search task were measured as a function of the movement type (grasping vs. pointing) and context complexity (context varying along one dimension vs. context varying along two dimensions). Results showed that action context influenced reaction times, which suggests a close bidirectional link between action and perception as well as an impact of environmental action context on perceptual selection in the course of action planning. Such findings are discussed in the context of application for robotics
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| 20. |
- Wykowska, Agnieszka, et al.
(författare)
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How humans optimize their interaction with the environment : The impact of action context on human perception
- 2011
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Ingår i: International Journal of Social Robotics. - : Springer Science and Business Media LLC. - 1875-4791 .- 1875-4805. ; 3:3, s. 223-231
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Tidskriftsartikel (refereegranskat)abstract
- This paper reports empirical findings on human performance in an experiment comprising a perceptual task and a motor task. Such findings should be considered in design of robots, since drawing inspiration from natural solutions not only should prove beneficial for artificial systems but also human-robot interaction should then become more efficient and safe. Humans have developed various mechanisms to optimize the way actions are performed and the effects they induce. Optimization of action planning (e.g., grasping, reaching or lifting objects) requires efficient selection of action-relevant features. Selection might also depend on the environmental context in which an action takes place. The present study investigated how action context influences perceptual processing in action planning. The experimental paradigm comprised two independent tasks: (1) a perceptual visual search task and (2) a grasping or a pointing movement. Reaction times in the visual search task were measured as a function of the movement type (grasping vs. pointing) and context complexity (context varying along one dimension vs. context varying along two dimensions). Results showed that action context influenced reaction times, which suggests a close bidirectional link between action and perception as well as an impact of environmental action context on perceptual selection in the course of action planning. These findings are discussed in the context of application for robotics and design of users' interfaces.
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| 21. |
- Zoltan-Csaba, Marton, et al.
(författare)
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Part-Based Geometric Categorization and Object Reconstruction in Cluttered Table-Top Scenes
- 2014
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Ingår i: Journal of Intelligent and Robotic Systems. - : Springer. - 0921-0296 .- 1573-0409. ; 76:1, s. 35-56
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Tidskriftsartikel (refereegranskat)abstract
- This paper presents an approach for 3D geometry-based object categorization in cluttered table-top scenes. In our method, objects are decomposed into different geometric parts whose spatial arrangement is represented by a graph. The matching and searching of graphs representing the objects is sped up by using a hash table which contains possible spatial configurations of the different parts that constitute the objects. Additive feature descriptors are used to label partially or completely visible object parts. In this work we categorize objects into five geometric shapes: sphere, box, flat, cylindrical, and disk/plate, as these shapes represent the majority of objects found on tables in typical households. Moreover, we reconstruct complete 3D models that include the invisible back-sides of objects as well, in order to facilitate manipulation by domestic service robots. Finally, we present an extensive set of experiments on point clouds of objects using an RGBD camera, and our results highlight the improvements over previous methods.
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