17 research outputs found

    Case Reports1. A Late Presentation of Loeys-Dietz Syndrome: Beware of TGFβ Receptor Mutations in Benign Joint Hypermobility

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    Background: Thoracic aortic aneurysms (TAA) and dissections are not uncommon causes of sudden death in young adults. Loeys-Dietz syndrome (LDS) is a rare, recently described, autosomal dominant, connective tissue disease characterized by aggressive arterial aneurysms, resulting from mutations in the transforming growth factor beta (TGFβ) receptor genes TGFBR1 and TGFBR2. Mean age at death is 26.1 years, most often due to aortic dissection. We report an unusually late presentation of LDS, diagnosed following elective surgery in a female with a long history of joint hypermobility. Methods: A 51-year-old Caucasian lady complained of chest pain and headache following a dural leak from spinal anaesthesia for an elective ankle arthroscopy. CT scan and echocardiography demonstrated a dilated aortic root and significant aortic regurgitation. MRA demonstrated aortic tortuosity, an infrarenal aortic aneurysm and aneurysms in the left renal and right internal mammary arteries. She underwent aortic root repair and aortic valve replacement. She had a background of long-standing joint pains secondary to hypermobility, easy bruising, unusual fracture susceptibility and mild bronchiectasis. She had one healthy child age 32, after which she suffered a uterine prolapse. Examination revealed mild Marfanoid features. Uvula, skin and ophthalmological examination was normal. Results: Fibrillin-1 testing for Marfan syndrome (MFS) was negative. Detection of a c.1270G > C (p.Gly424Arg) TGFBR2 mutation confirmed the diagnosis of LDS. Losartan was started for vascular protection. Conclusions: LDS is a severe inherited vasculopathy that usually presents in childhood. It is characterized by aortic root dilatation and ascending aneurysms. There is a higher risk of aortic dissection compared with MFS. Clinical features overlap with MFS and Ehlers Danlos syndrome Type IV, but differentiating dysmorphogenic features include ocular hypertelorism, bifid uvula and cleft palate. Echocardiography and MRA or CT scanning from head to pelvis is recommended to establish the extent of vascular involvement. Management involves early surgical intervention, including early valve-sparing aortic root replacement, genetic counselling and close monitoring in pregnancy. Despite being caused by loss of function mutations in either TGFβ receptor, paradoxical activation of TGFβ signalling is seen, suggesting that TGFβ antagonism may confer disease modifying effects similar to those observed in MFS. TGFβ antagonism can be achieved with angiotensin antagonists, such as Losartan, which is able to delay aortic aneurysm development in preclinical models and in patients with MFS. Our case emphasizes the importance of timely recognition of vasculopathy syndromes in patients with hypermobility and the need for early surgical intervention. It also highlights their heterogeneity and the potential for late presentation. Disclosures: The authors have declared no conflicts of interes

    The DREAM Dataset: Supporting a data-driven study of autism spectrum disorder and robot enhanced therapy

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    We present a dataset of behavioral data recorded from 61 children diagnosed with Autism Spectrum Disorder (ASD). The data was collected during a large-scale evaluation of Robot Enhanced Therapy (RET). The dataset covers over 3000 therapy sessions and more than 300 hours of therapy. Half of the children interacted with the social robot NAO supervised by a therapist. The other half, constituting a control group, interacted directly with a therapist. Both groups followed the Applied Behavior Analysis (ABA) protocol. Each session was recorded with three RGB cameras and two RGBD (Kinect) cameras, providing detailed information of children’s behavior during therapy. This public release of the dataset comprises body motion, head position and orientation, and eye gaze variables, all specified as 3D data in a joint frame of reference. In addition, metadata including participant age, gender, and autism diagnosis (ADOS) variables are included. We release this data with the hope of supporting further data-driven studies towards improved therapy methods as well as a better understanding of ASD in general.CC BY 4.0DREAM - Development of robot-enhanced therapy for children with autism spectrum disorders

    Trust-building of patients relatives through an android app based patient information tool

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    by Abhishek Gahatraj and Vipul Nai

    Feasibility study of Oculus Rift device in visual search experiments

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    by Vipul Nair and Meera Mary Sunn

    Incidental processing of biological motion: : Effects of orientation, local-motion and global-form features

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    Previous studies on biological motion perception indicate that the processing of biological motion is fast and automatic. A segment of these studies has shown that task irrelevant and to-be-ignored biological figures are incidentally processed since they interfere with the main task. However more evidence is needed to understand the role of local-motion and global-form processing mechanisms in incidentally processed biological figures. This study investigates the effects of local-motion and global-form features on incidental processing. Point light walkers (PLW) were used in a flanker paradigm in a direction discrimination task to assess the influence of the flankers. Our results show that upright oriented PLW flankers with global-form features have more influence on visual processing of the central PLW than inverted or scrambled PLW flankers with only local-motion features

    Anticipatory Instances In Films : What Do They Tell Us About Event Understanding?

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    Event perception research highlights the significance of visuospatial attributes that influence event segmentation and prediction. The present study investigates how the visuospatial attributes in film events correlate to viewers’ ongoing event processes such as anticipatory gaze, prediction and segmentation. We derive film instances (such as occlusion, enter/exit, turn towards etc.) that show trends of (high) anticipatory viewing behaviour from an in-depth multimodal (such as speech, handaction, gaze etc.) event features analysis of 25 movie scenes and correlated with visual attention analysis (eye-tracking 32 participants per scene). The first results provide a solid basis for using these derived instances to examine further the nature of the different visuospatial attributes in relation to event changes (where anticipation and segmentation occurs). With the results, we (aim to) argue that by investigating film instances of anticipatory nature, one could explicate how humans perform high-level characterization of visuospatial attributes and understand events.The study proposal is accepted to SCSMi 2022. The ISBN no and other publication info will be published after the conference, June 1-4.</p

    Attentional synchrony in films : A window to visuospatial characterization of events

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    The study of event perception emphasizes the importance of visuospatial attributes in everyday human activities and how they influence event segmentation, prediction and retrieval. Attending to these visuospatial attributes is the first step toward event understanding, and therefore correlating attentional measures to such attributes would help to further our understanding of event comprehension. In this study, we focus on attentional synchrony amongst other attentional measures and analyze select film scenes through the lens of a visuospatial event model. Here we present the first results of an in-depth multimodal (such as head-turn, hand-action etc.) visuospatial analysis of 10 movie scenes correlated with visual attention (eye-tracking 32 participants per scene). With the results, we tease apart event segments of high and low attentional synchrony and describe the distribution of attention in relation to the visuospatial features. This analysis gives us an indirect measure of attentional saliency for a scene with a particular visuospatial complexity, ultimately directing the attentional selection of the observers in a given context.CC BY 4.0</p

    Anticipatory Instances In Films : What Do They Tell Us About Event Understanding?

    No full text
    Event perception research highlights the significance of visuospatial attributes that influence event segmentation and prediction. The present study investigates how the visuospatial attributes in film events correlate to viewers’ ongoing event processes such as anticipatory gaze, prediction and segmentation. We derive film instances (such as occlusion, enter/exit, turn towards etc.) that show trends of (high) anticipatory viewing behaviour from an in-depth multimodal (such as speech, handaction, gaze etc.) event features analysis of 25 movie scenes and correlated with visual attention analysis (eye-tracking 32 participants per scene). The first results provide a solid basis for using these derived instances to examine further the nature of the different visuospatial attributes in relation to event changes (where anticipation and segmentation occurs). With the results, we (aim to) argue that by investigating film instances of anticipatory nature, one could explicate how humans perform high-level characterization of visuospatial attributes and understand events.The study proposal is accepted to SCSMi 2022. The ISBN no and other publication info will be published after the conference, June 1-4.</p

    Event segmentation through the lens of multimodal interaction

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    Research in naturalistic event perception highlights the significance of visuospatial attributes pertaining to everyday embodied human interaction. This research focuses on developing a conceptual cognitive model to characterise the role of multimodality in human interaction, its influence on visuospatial representation, event segmentation, and high-level event prediction. Our research aims to characterise the influence of modalities such as visual attention, speech, hand-action, body-pose, headmovement, spatial-position, motion, and gaze on judging event segments. Our particular focus is on visuoauditory narrative media. We select 25 movie scenes from a larger project concerning cognitive film/media studies and performing detailed multimodal analysis in the backdrop of an elaborate (formally specified) event analysis ontology. Corresponding to the semantic event analysis of each scene, we also perform high-level visual attention analysis (eye-tracking based) with 32 participants per scene. Correlating the features of each scene with visual attention constitutes the key method that we utilise in our analysis. We hypothesise that the attentional performance on event segments reflects the influence exerted by multimodal cues on event segmentation and prediction, thereby enabling us to explicate the representational basis of events. The first results show trends of multiple viewing behaviours such as attentional synchrony, gaze pursuit and attentional saliency towards human faces. Work is presently in progress, further investigating the role of visuospatial/auditory cues in high-level event perception, e.g., involving anticipatory gaze vis-a-vis event prediction. Applications and impact of this conceptual cognitive model and its behavioural outcomes are aplenty in domains such as (digital) narrative media design and social robotics
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