Simple tandem DNA repeats and human genetic disease.

The human genome contains many repeated DNA sequences that vary in complexity of repeating unit from a single nucleotide to a whole gene. The repeat sequences can be widely dispersed or in simple tandem arrays. Arrays of up to 5 or 6 nt are known as simple tandem repeats, and these are widely dispersed and highly polymorphic. Members of one group of the simple tandem repeats, the trinucleotide repeats, can undergo an increase in copy number by a process of dynamic mutation. Dynamic mutations of the CCG trinucleotide give rise to one group of fragile sites on human chromosomes, the rare folate-sensitive group. One member of this group, the fragile X (FRAXA) is responsible for the most common familial form of mental retardation. Another member of the group FRAXE is responsible for a rarer mild form of mental retardation. Similar mutations of AGC repeats give rise to a number of neurological disorders. The expanded repeats are unstable between generations and somatically. The intergenerational instability gives rise to unusual patterns of inheritance--particularly anticipation, the increasing severity and/or earlier age of onset of the disorder in successive generations. Dynamic mutations have been found only in the human species, and possible reasons for this are considered. The mechanism of dynamic mutation is discussed, and a number of observations of simple tandem repeat mutation that could assist in understanding this phenomenon are commented on.

Detección automática con snakes y representación 3D sobre imágenes cerebrales

Comunicación presentada en la VI Conferencia de la Asociación Española para la Inteligencia Artificial (CAEPIA'95), Alicante, 15-17 noviembre 1995.

Evidence of different thermoregulatory mechanisms between two sympatric Scarabaeus species using infrared thermography and micro-computer tomography

In endotherms insects, the thermoregulatory mechanisms modulate heat transfer from the thorax to the abdomen to avoid overheating or cooling in order to obtain a prolonged flight performance. Scarabaeus sacer and S. cicatricosus, two sympatric species with the same habitat and food preferences, showed daily temporal segregation with S. cicatricosus being more active during warmer hours of the day in opposition to S. sacer who avoid it. In the case of S. sacer, their endothermy pattern suggested an adaptive capacity for thorax heat retention. In S. cicatricosus, an active ‘heat exchanger’ mechanism was suggested. However, no empirical evidence had been documented until now. Thermographic sequences recorded during flight performance showed evidence of the existence of both thermoregulatory mechanisms. In S. sacer, infrared sequences showed a possible heat insulator (passive thermal window), which prevents heat transfer from meso- and metathorax to the abdomen during flight. In S. cicatricosus, infrared sequences revealed clear and effective heat flow between the thorax and abdomen (abdominal heat transfer) that should be considered the main mechanism of thermoregulation. This was related to a subsequent increase in abdominal pumping (as a cooling mechanism) during flight. Computer microtomography scanning, anatomical dissections and internal air volume measurements showed two possible heat retention mechanisms for S. sacer; the abdominal air sacs and the development of the internal abdominal sternites that could explain the thermoregulation between thorax and abdomen. Our results suggest that interspecific interactions between sympatric species are regulated by very different mechanisms. These mechanisms create unique thermal niches for the different species, thereby preventing competition and modulating spatio-temporal distribution and the composition of dung beetle assemblages.

Towards a real-time 3D object recognition pipeline on mobile GPGPU computing platforms using low-cost RGB-D sensors

In this project, we propose the implementation of a 3D object recognition system which will be optimized to operate under demanding time constraints. The system must be robust so that objects can be recognized properly in poor light conditions and cluttered scenes with significant levels of occlusion. An important requirement must be met: the system must exhibit a reasonable performance running on a low power consumption mobile GPU computing platform (NVIDIA Jetson TK1) so that it can be integrated in mobile robotics systems, ambient intelligence or ambient assisted living applications. The acquisition system is based on the use of color and depth (RGB-D) data streams provided by low-cost 3D sensors like Microsoft Kinect or PrimeSense Carmine. The range of algorithms and applications to be implemented and integrated will be quite broad, ranging from the acquisition, outlier removal or filtering of the input data and the segmentation or characterization of regions of interest in the scene to the very object recognition and pose estimation. Furthermore, in order to validate the proposed system, we will create a 3D object dataset. It will be composed by a set of 3D models, reconstructed from common household objects, as well as a handful of test scenes in which those objects appear. The scenes will be characterized by different levels of occlusion, diverse distances from the elements to the sensor and variations on the pose of the target objects. The creation of this dataset implies the additional development of 3D data acquisition and 3D object reconstruction applications. The resulting system has many possible applications, ranging from mobile robot navigation and semantic scene labeling to human-computer interaction (HCI) systems based on visual information.

The Use of Nudges in Exergames to Moderate Player Exertion

Exergames are digital games with a physical exertion component. Exergames can help motivate fitness in people not inclined toward exercise. However, players of exergames sometimes over-exert, risking adverse health effects. These players must be told to slow down, but doing so may distract them from gameplay and diminish their desire to keep exercising. In this thesis we apply the concept of nudges—indirect suggestions that gently push people toward a desired behaviour—to keeping exergame players from over-exerting. We describe the effective use of nudges through a set of four design principles: natural integration, comprehension, progression, and multiple channels. We describe two exergames modified to use nudges to persuade players to slow down, and describe the studies evaluating the use of nudges in these games. PlaneGame shows that nudges can be as effective as an explicit textual display to control player over-exertion. Gekku Race demonstrates that nudges are not necessarily effective when players have a strong incentive to over-exert. However, Gekku Race also shows that, even in high-energy games, the power of nudges can be maintained by adding negative consequences to the nudges. We use the term "shove" to describe a nudge using negative consequences to increase its pressure. We were concerned that making players slow down would damage their immersion—the feeling of being engaged with a game. However, testing showed no loss of immersion through the use of nudges to reduce exertion. Players reported that the nudges and shoves motivated them to slow down when they were over-exerting, and fit naturally into the games.

Measuring Returns to Education and Human Capital in the Southern Mediterranean. MEDPRO Technical Report No. 17/September 2012

Measuring human capital has been a significant challenge for economists because the main variable of interest is intangible and not directly observable. In the Middle Eastern and Northern African region the task is further complicated by the general scarcity of comparable and reliable data. This study overcomes these challenges by relying on a unique international survey that covers most of the region and by deriving a market-based measure that uses returns to education and various labour market factors as guidance. The results show that private returns to schooling are relatively low in most southern Mediterranean countries (SMC). Israel and Turkey are clear outliers, surpassing even the EU-MED averages. In Algeria and Jordan, the returns are almost flat, implying that earnings do not respond significantly to education levels. Despite high attainment levels, Greece, Spain and Portugal also perform badly; only marginally surpassing some of the bottom-ranked SMC, providing evidence of problems in absorption capacity. The baseline scenarios for 2030 show substantial sensitivity to current estimates on returns to education. In particular, improving attainment levels can produce measurable gains in the future only when the returns to education are already high. Such is the case for Egypt, Morocco and Turkey, which substantially improve their human capital stocks under the baseline scenarios, surpassing several EU-MED countries with little or no room for improvement.