Identification and evaluation of candidate genes for inherited retinal -degenerative diseases

Although more than 100 genes associated with inherited retinal disease have been mapped to chromosomal locations, less than half of these genes have been cloned. This text includes identification and evaluation of candidate genes for three autosomal dominant forms of inherited retinal degeneration: atypical vitelliform macular dystrophy (VMD1), cone-rod dystrophy (CORD), and retinitis pigmentosa (RP). ^ VMD1 is a disorder characterized by complete penetrance but extremely variable expressivity, and includes macular or peripheral retinal lesions and peripappilary abnormalitites. In 1984, linkage was reported between VMD1 and soluble glutamate-pyruvate transaminase GPT); however, placement of GPT to 8q24 on linkage maps had been debated, and VMD1 did not show linkage to microsatellite markers in that region. This study excluded linkage between the loci by cloning GPT, identifying the nucleotide substitution associated with the GPT sozymes, and by assaying VMD1 family samples with an RFLP designed to detect the substitution. In addition, linkage of VMD1 to the known dominant macular degeneration loci was excluded. ^ CORD is characterized by early onset of color-vision deficiency, and decreased visual acuity, However, this retinal degeneration progresses to no light perception, severe macular lesion, and “bone-spicule” accumulations in the peripheral retina. In this study, the disorder in a large Texan family was mapped to the CORD2 locus of 19q13, and a mutation in the retina/pineal-specific cone-rod homeobox gene (CRX) was identified as the disease cause. In addition, mutations in CRX were associated with significantly different retinal disease phenotypes, including retinitis pigmentosa and Leber congenital amaurosis. ^ Many of the mutations leading to inherited retinal disorders have been identified in genes like CRX, which are expressed predominantly in the retina and pineal gland. Therefore, a combination of database analysis and laboratory investigation was used to identify 26 novel retina/pineal-specific expressed sequence tag (EST) clusters as candidate genes for inherited retinal disorders. Eight of these genes were mapped into the candidate regions of inherited retinal degeneration loci. ^ Two of the eight clusters mapped into the retinitis pigmentosa RP13 candidate region of 17p13, and were both determined to represent a single gene that is highly expressed in photoreceptors. This gene, the Ah receptor-interacting like protein-1 (AIPL1), was cloned, characterized, and screened for mutations in RP13 patient DNA samples. ^

Reference list of 120 datasets from time series station Payerne used for exploratory search

The analysis of time-dependent data is an important problem in many application domains, and interactive visualization of time-series data can help in understanding patterns in large time series data. Many effective approaches already exist for visual analysis of univariate time series supporting tasks such as assessment of data quality, detection of outliers, or identification of periodically or frequently occurring patterns. However, much fewer approaches exist which support multivariate time series. The existence of multiple values per time stamp makes the analysis task per se harder, and existing visualization techniques often do not scale well. We introduce an approach for visual analysis of large multivariate time-dependent data, based on the idea of projecting multivariate measurements to a 2D display, visualizing the time dimension by trajectories. We use visual data aggregation metaphors based on grouping of similar data elements to scale with multivariate time series. Aggregation procedures can either be based on statistical properties of the data or on data clustering routines. Appropriately defined user controls allow to navigate and explore the data and interactively steer the parameters of the data aggregation to enhance data analysis. We present an implementation of our approach and apply it on a comprehensive data set from the field of earth bservation, demonstrating the applicability and usefulness of our approach.

Visual Servoing for the Robotenis System: a Strategy for a 3 DOF Parallel Robot to Hit a Ping-Pong Ball

This article describes a new visual servo control and strategies that are used to carry out dynamic tasks by the Robotenis platform. This platform is basically a parallel robot that is equipped with an acquisition and processing system of visual information, its main feature is that it has a completely open architecture control, and planned in order to design, implement, test and compare control strategies and algorithms (visual and actuated joint controllers). Following sections describe a new visual control strategy specially designed to track and intercept objects in 3D space. The results are compared with a controller shown in previous woks, where the end effector of the robot keeps a constant distance from the tracked object. In this work, the controller is specially designed in order to allow changes in the tracking reference. Changes in the tracking reference can be used to grip an object that is under movement, or as in this case, hitting a hanging Ping-Pong ball. Lyapunov stability is taken into account in the controller design.

DAEDALUS at ImageCLEF 2011 Plant Identification Task: Using SIFT Keypoints for Object Detection

This paper describes the participation of DAEDALUS at ImageCLEF 2011 Plant Identification task. The task is evaluated as a supervised classification problem over 71 tree species from the French Mediterranean area used as class labels, based on visual content from scan, scan-like and natural photo images. Our approach to this task is to build a classifier based on the detection of keypoints from the images extracted using Lowe’s Scale Invariant Feature Transform (SIFT) algorithm. Although our overall classification score is very low as compared to other participant groups, the main conclusion that can be drawn is that SIFT keypoints seem to work significantly better for photos than for the other image types, so our approach may be a feasible strategy for the classification of this kind of visual content.

Visual Tracking, Pose Estimation, and Control for Aerial Vehicles

El principal objetivo de esta tesis es dotar a los vehículos aéreos no tripulados (UAVs, por sus siglas en inglés) de una fuente de información adicional basada en visión. Esta fuente de información proviene de cámaras ubicadas a bordo de los vehículos o en el suelo. Con ella se busca que los UAVs realicen tareas de aterrizaje o inspección guiados por visión, especialmente en aquellas situaciones en las que no haya disponibilidad de estimar la posición del vehículo con base en GPS, cuando las estimaciones de GPS no tengan la suficiente precisión requerida por las tareas a realizar, o cuando restricciones de carga de pago impidan añadir sensores a bordo de los vehículos. Esta tesis trata con tres de las principales áreas de la visión por computador: seguimiento visual y estimación visual de la pose (posición y orientación), que a su vez constituyen la base de la tercera, denominada control servo visual, que en nuestra aplicación se enfoca en el empleo de información visual para controlar los UAVs. Al respecto, esta tesis se ocupa de presentar propuestas novedosas que permitan solucionar problemas relativos al seguimiento de objetos mediante cámaras ubicadas a bordo de los UAVs, se ocupa de la estimación de la pose de los UAVs basada en información visual obtenida por cámaras ubicadas en el suelo o a bordo, y también se ocupa de la aplicación de las técnicas propuestas para solucionar diferentes problemas, como aquellos concernientes al seguimiento visual para tareas de reabastecimiento autónomo en vuelo o al aterrizaje basado en visión, entre otros. Las diversas técnicas de visión por computador presentadas en esta tesis se proponen con el fin de solucionar dificultades que suelen presentarse cuando se realizan tareas basadas en visión con UAVs, como las relativas a la obtención, en tiempo real, de estimaciones robustas, o como problemas generados por vibraciones. Los algoritmos propuestos en esta tesis han sido probados con información de imágenes reales obtenidas realizando pruebas on-line y off-line. Diversos mecanismos de evaluación han sido empleados con el propósito de analizar el desempeño de los algoritmos propuestos, entre los que se incluyen datos simulados, imágenes de vuelos reales, estimaciones precisas de posición empleando el sistema VICON y comparaciones con algoritmos del estado del arte. Los resultados obtenidos indican que los algoritmos de visión por computador propuestos tienen un desempeño que es comparable e incluso mejor al de algoritmos que se encuentran en el estado del arte. Los algoritmos propuestos permiten la obtención de estimaciones robustas en tiempo real, lo cual permite su uso en tareas de control visual. El desempeño de estos algoritmos es apropiado para las exigencias de las distintas aplicaciones examinadas: reabastecimiento autónomo en vuelo, aterrizaje y estimación del estado del UAV. Abstract The main objective of this thesis is to provide Unmanned Aerial Vehicles (UAVs) with an additional vision-based source of information extracted by cameras located either on-board or on the ground, in order to allow UAVs to develop visually guided tasks, such as landing or inspection, especially in situations where GPS information is not available, where GPS-based position estimation is not accurate enough for the task to develop, or where payload restrictions do not allow the incorporation of additional sensors on-board. This thesis covers three of the main computer vision areas: visual tracking and visual pose estimation, which are the bases the third one called visual servoing, which, in this work, focuses on using visual information to control UAVs. In this sense, the thesis focuses on presenting novel solutions for solving the tracking problem of objects when using cameras on-board UAVs, on estimating the pose of the UAVs based on the visual information collected by cameras located either on the ground or on-board, and also focuses on applying these proposed techniques for solving different problems, such as visual tracking for aerial refuelling or vision-based landing, among others. The different computer vision techniques presented in this thesis are proposed to solve some of the frequently problems found when addressing vision-based tasks in UAVs, such as obtaining robust vision-based estimations at real-time frame rates, and problems caused by vibrations, or 3D motion. All the proposed algorithms have been tested with real-image data in on-line and off-line tests. Different evaluation mechanisms have been used to analyze the performance of the proposed algorithms, such as simulated data, images from real-flight tests, publicly available datasets, manually generated ground truth data, accurate position estimations using a VICON system and a robotic cell, and comparison with state of the art algorithms. Results show that the proposed computer vision algorithms obtain performances that are comparable to, or even better than, state of the art algorithms, obtaining robust estimations at real-time frame rates. This proves that the proposed techniques are fast enough for vision-based control tasks. Therefore, the performance of the proposed vision algorithms has shown to be of a standard appropriate to the different explored applications: aerial refuelling and landing, and state estimation. It is noteworthy that they have low computational overheads for vision systems.

An approach to a model of the visual cortex: disorders of vision

One of the most challenging problems that must be solved by any theoretical model purporting to explain the competence of the human brain for relational tasks is the one related with the analysis and representation of the internal structure in an extended spatial layout of múltiple objects. In this way, some of the problems are related with specific aims as how can we extract and represent spatial relationships among objects, how can we represent the movement of a selected object and so on. The main objective of this paper is the study of some plausible brain structures that can provide answers in these problems. Moreover, in order to achieve a more concrete knowledge, our study will be focused on the response of the retinal layers for optical information processing and how this information can be processed in the first cortex layers. The model to be reported is just a first trial and some major additions are needed to complete the whole vision process.

Monitoring visual attention on a neurorehabilitation environment based on interactive video

The use of new technologies in neurorehabilitation has led to higher intensity rehabilitation processes, extending therapies in an economically sustainable way. Interactive Video (IV) technology allows therapists to work with virtual environments that reproduce real situations. In this way, patients deal with Activities of the Daily Living (ADL) immersed within enhanced environments [1]. These rehabilitation exercises, which focus in re-learning lost functions, will try to modulate the neural plasticity processes [2]. This research presents a system where a neurorehabilitation IV-based environment has been integrated with an eye-tracker device in order to monitor and to interact using visual attention. While patients are interacting with the neurorehabilitation environment, their visual behavior is closely related with their cognitive state, which in turn mirrors the brain damage condition suffered by them [3] [4]. Patients’ gaze data can provide knowledge on their attention focus and their cognitive state, as well as on the validity of the rehabilitation tasks proposed [5].

A vision-based strategy for autonomous aerial refueling tasks

Autonomous aerial refueling is a key enabling technology for both manned and unmanned aircraft where extended flight duration or range are required. The results presented within this paper offer one potential vision-based sensing solution, together with a unique test environment. A hierarchical visual tracking algorithm based on direct methods is proposed and developed for the purposes of tracking a drogue during the capture stage of autonomous aerial refueling, and of estimating its 3D position. Intended to be applied in real time to a video stream from a single monocular camera mounted on the receiver aircraft, the algorithm is shown to be highly robust, and capable of tracking large, rapid drogue motions within the frame of reference. The proposed strategy has been tested using a complex robotic testbed and with actual flight hardware consisting of a full size probe and drogue. Results show that the vision tracking algorithm can detect and track the drogue at real-time frame rates of more than thirty frames per second, obtaining a robust position estimation even with strong motions and multiple occlusions of the drogue.

A visual framework to accelerate knowledge discovery based on dimensionality reduction minimizing degradation of quality

Tradicionalmente, el uso de técnicas de análisis de datos ha sido una de las principales vías para el descubrimiento de conocimiento oculto en grandes cantidades de datos, recopilados por expertos en diferentes dominios. Por otra parte, las técnicas de visualización también se han usado para mejorar y facilitar este proceso. Sin embargo, existen limitaciones serias en la obtención de conocimiento, ya que suele ser un proceso lento, tedioso y en muchas ocasiones infructífero, debido a la dificultad de las personas para comprender conjuntos de datos de grandes dimensiones. Otro gran inconveniente, pocas veces tenido en cuenta por los expertos que analizan grandes conjuntos de datos, es la degradación involuntaria a la que someten a los datos durante las tareas de análisis, previas a la obtención final de conclusiones. Por degradación quiere decirse que los datos pueden perder sus propiedades originales, y suele producirse por una reducción inapropiada de los datos, alterando así su naturaleza original y llevando en muchos casos a interpretaciones y conclusiones erróneas que podrían tener serias implicaciones. Además, este hecho adquiere una importancia trascendental cuando los datos pertenecen al dominio médico o biológico, y la vida de diferentes personas depende de esta toma final de decisiones, en algunas ocasiones llevada a cabo de forma inapropiada. Ésta es la motivación de la presente tesis, la cual propone un nuevo framework visual, llamado MedVir, que combina la potencia de técnicas avanzadas de visualización y minería de datos para tratar de dar solución a estos grandes inconvenientes existentes en el proceso de descubrimiento de información válida. El objetivo principal es hacer más fácil, comprensible, intuitivo y rápido el proceso de adquisición de conocimiento al que se enfrentan los expertos cuando trabajan con grandes conjuntos de datos en diferentes dominios. Para ello, en primer lugar, se lleva a cabo una fuerte disminución en el tamaño de los datos con el objetivo de facilitar al experto su manejo, y a la vez preservando intactas, en la medida de lo posible, sus propiedades originales. Después, se hace uso de efectivas técnicas de visualización para representar los datos obtenidos, permitiendo al experto interactuar de forma sencilla e intuitiva con los datos, llevar a cabo diferentes tareas de análisis de datos y así estimular visualmente su capacidad de comprensión. De este modo, el objetivo subyacente se basa en abstraer al experto, en la medida de lo posible, de la complejidad de sus datos originales para presentarle una versión más comprensible, que facilite y acelere la tarea final de descubrimiento de conocimiento. MedVir se ha aplicado satisfactoriamente, entre otros, al campo de la magnetoencefalografía (MEG), que consiste en la predicción en la rehabilitación de lesiones cerebrales traumáticas (Traumatic Brain Injury (TBI) rehabilitation prediction). Los resultados obtenidos demuestran la efectividad del framework a la hora de acelerar y facilitar el proceso de descubrimiento de conocimiento sobre conjuntos de datos reales. ABSTRACT Traditionally, the use of data analysis techniques has been one of the main ways of discovering knowledge hidden in large amounts of data, collected by experts in different domains. Moreover, visualization techniques have also been used to enhance and facilitate this process. However, there are serious limitations in the process of knowledge acquisition, as it is often a slow, tedious and many times fruitless process, due to the difficulty for human beings to understand large datasets. Another major drawback, rarely considered by experts that analyze large datasets, is the involuntary degradation to which they subject the data during analysis tasks, prior to obtaining the final conclusions. Degradation means that data can lose part of their original properties, and it is usually caused by improper data reduction, thereby altering their original nature and often leading to erroneous interpretations and conclusions that could have serious implications. Furthermore, this fact gains a trascendental importance when the data belong to medical or biological domain, and the lives of people depends on the final decision-making, which is sometimes conducted improperly. This is the motivation of this thesis, which proposes a new visual framework, called MedVir, which combines the power of advanced visualization techniques and data mining to try to solve these major problems existing in the process of discovery of valid information. Thus, the main objective is to facilitate and to make more understandable, intuitive and fast the process of knowledge acquisition that experts face when working with large datasets in different domains. To achieve this, first, a strong reduction in the size of the data is carried out in order to make the management of the data easier to the expert, while preserving intact, as far as possible, the original properties of the data. Then, effective visualization techniques are used to represent the obtained data, allowing the expert to interact easily and intuitively with the data, to carry out different data analysis tasks, and so visually stimulating their comprehension capacity. Therefore, the underlying objective is based on abstracting the expert, as far as possible, from the complexity of the original data to present him a more understandable version, thus facilitating and accelerating the task of knowledge discovery. MedVir has been succesfully applied to, among others, the field of magnetoencephalography (MEG), which consists in predicting the rehabilitation of Traumatic Brain Injury (TBI). The results obtained successfully demonstrate the effectiveness of the framework to accelerate and facilitate the process of knowledge discovery on real world datasets.

Speech Signals Feature Extraction Model for a Speaker’s Gender and Age Identification System

Durante el proceso de producción de voz, los factores anatómicos, fisiológicos o psicosociales del individuo modifican los órganos resonadores, imprimiendo en la voz características particulares. Los sistemas ASR tratan de encontrar los matices característicos de una voz y asociarlos a un individuo o grupo. La edad y sexo de un hablante son factores intrínsecos que están presentes en la voz. Este trabajo intenta diferenciar esas características, aislarlas y usarlas para detectar el género y la edad de un hablante. Para dicho fin, se ha realizado el estudio y análisis de las características basadas en el pulso glótico y el tracto vocal, evitando usar técnicas clásicas (como pitch y sus derivados) debido a las restricciones propias de dichas técnicas. Los resultados finales de nuestro estudio alcanzan casi un 100% en reconocimiento de género mientras en la tarea de reconocimiento de edad el reconocimiento se encuentra alrededor del 80%. Parece ser que la voz queda afectada por el género del hablante y las hormonas, aunque no se aprecie en la audición. ABSTRACT Particular elements of the voice are printed during the speech production process and are related to anatomical and physiological factors of the phonatory system or psychosocial factors acquired by the speaker. ASR systems attempt to find those peculiar nuances of a voice and associate them to an individual or a group. Age and gender are inherent factors to the speaker which may be represented in voice. This work attempts to differentiate those characteristics, isolate them and use them to detect speaker’s gender and age. Features based on glottal pulse and vocal tract are studied and analyzed in order to achieve good results in both tasks. Classical methodologies (such as pitch and derivates) are avoided since the requirements of those techniques may be too restrictive. The final scores achieve almost 100% in gender recognition whereas in age recognition those scores are around 80%. Factors related to the gender and hormones seem to affect the voice although they are not audible.

DESEMPENHO EM TESTES DE ATENÇÃO VISUAL E INTERFERÊNCIA DE ESTÍMULOS AUDITIVOS DE MOVIMENTO EM INDIVÍDUOS COM E SEM MEDO DE ALTURA

Desordens da ansiedade, especialmente a agorafobia e a desordem do pânico foram associadas a anormalidades das funções vestibulares. Evidências de que o controle do equilíbrio pode exigir habilidades atencionais também foram relatadas. Utilizando o medo de altura como modelo clínico onde sintomas ansiosos coexistem com anormalidades com a percepção espacial e controle do equilíbrio, este estudo investigou o desempenho em testes de atenção visual em voluntários normais com altos e baixos escores obtidos do Questionário de Acrofobia. O teste de rastreio visual foi realizado em 30 indivíduos (15 em cada grupo) enquanto ouviam dois tipos diferentes de estímulos auditivos. Na condição volume um som de 900 Hz era apresentado em ambos ouvidos durante 2 segundos seguidos de mais 2 segundos de silêncio. Na condição balanço , o mesmo som era apresentado durante 2 segundos ao ouvido direito seguido por 2 segundos ao ouvido esquerdo. Estímulos auditivos de movimento provocaram maior desconforto em ambos os grupos, mas nos indivíduos com maiores escores de acrofobia estes estímulos foram associados a um pior desempenho no teste visual. Embora muito limitado pela amostra experimental, este estudo sugere que o medo de altura pode estar associado à dependência visual para manutenção do equilíbrio e que poderia piorar o desempenho nos testes visuais devido à competição dos recursos neuro-cognitivos. Implicações experimentais e clínicas destes achados preliminares exigem outras pesquisas.

DESEMPENHO EM TESTES DE ATENÇÃO VISUAL E INTERFERÊNCIA DE ESTÍMULOS AUDITIVOS DE MOVIMENTO EM INDIVÍDUOS COM E SEM MEDO DE ALTURA

Desordens da ansiedade, especialmente a agorafobia e a desordem do pânico foram associadas a anormalidades das funções vestibulares. Evidências de que o controle do equilíbrio pode exigir habilidades atencionais também foram relatadas. Utilizando o medo de altura como modelo clínico onde sintomas ansiosos coexistem com anormalidades com a percepção espacial e controle do equilíbrio, este estudo investigou o desempenho em testes de atenção visual em voluntários normais com altos e baixos escores obtidos do Questionário de Acrofobia. O teste de rastreio visual foi realizado em 30 indivíduos (15 em cada grupo) enquanto ouviam dois tipos diferentes de estímulos auditivos. Na condição volume um som de 900 Hz era apresentado em ambos ouvidos durante 2 segundos seguidos de mais 2 segundos de silêncio. Na condição balanço , o mesmo som era apresentado durante 2 segundos ao ouvido direito seguido por 2 segundos ao ouvido esquerdo. Estímulos auditivos de movimento provocaram maior desconforto em ambos os grupos, mas nos indivíduos com maiores escores de acrofobia estes estímulos foram associados a um pior desempenho no teste visual. Embora muito limitado pela amostra experimental, este estudo sugere que o medo de altura pode estar associado à dependência visual para manutenção do equilíbrio e que poderia piorar o desempenho nos testes visuais devido à competição dos recursos neuro-cognitivos. Implicações experimentais e clínicas destes achados preliminares exigem outras pesquisas.

Covert attention accelerates the rate of visual information processing

Whenever we open our eyes, we are confronted with an overwhelming amount of visual information. Covert attention allows us to select visual information at a cued location, without eye movements, and to grant such information priority in processing. Covert attention can be voluntarily allocated, to a given location according to goals, or involuntarily allocated, in a reflexive manner, to a cue that appears suddenly in the visual field. Covert attention improves discriminability in a wide variety of visual tasks. An important unresolved issue is whether covert attention can also speed the rate at which information is processed. To address this issue, it is necessary to obtain conjoint measures of the effects of covert attention on discriminability and rate of information processing. We used the response-signal speed-accuracy tradeoff (SAT) procedure to derive measures of how cueing a target location affects speed and accuracy in a visual search task. Here, we show that covert attention not only improves discriminability but also accelerates the rate of information processing.

Neural mechanisms for visual memory and their role in attention

Recent studies show that neuronal mechanisms for learning and memory both dynamically modulate and permanently alter the representations of visual stimuli in the adult monkey cortex. Three commonly observed neuronal effects in memory-demanding tasks are repetition suppression, enhancement, and delay activity. In repetition suppression, repeated experience with the same visual stimulus leads to both short- and long-term suppression of neuronal responses in subpopulations of visual neurons. Enhancement works in an opposite fashion, in that neuronal responses are enhanced for objects with learned behavioral relevance. Delay activity is found in tasks in which animals are required to actively hold specific information “on-line” for short periods. Repetition suppression appears to be an intrinsic property of visual cortical areas such as inferior temporal cortex and is thought to be important for perceptual learning and priming. By contrast, enhancement and delay activity may depend on feedback to temporal cortex from prefrontal cortex and are thought to be important for working memory. All of these mnemonic effects on neuronal responses bias the competitive interactions that take place between stimulus representations in the cortex when there is more than one stimulus in the visual field. As a result, memory will often determine the winner of these competitions and, thus, will determine which stimulus is attended.