Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly.

Background: Mutations in TSC1 or TSC2 cause the tuberous sclerosis complex (TSC), a disorder characterised by the development of hamartomas or benign tumours in various organs as well as the variable presence of epilepsy, intellectual disability (ID) and autism. TSC1, TSC2 and the recently described protein TBC1D7 form a complex that inhibits mTORC1 signalling and limits cell growth. Although it has been proposed that mutations in TBC1D7 might also cause TSC, loss of its function has not yet been documented in humans.

Imaging of biliary disorders in children.

Biliary atresia and related disorders of the biliary tree, such as choledochal cyst, must be considered in the differential diagnosis of prolonged conjugated hyperbilirubinemia in infants and children. Pediatric biliary tract diseases include a variety of entities with a wide range of clinical presentations. Radiology plays an important role in the diagnosis and management of these pathologies.

Presence as determined by fractal perceptual-motor dynamics.

This paper presents a tentative model of the role of perceptual-motor dynamics in the emergence of the feeling of presence. A new method allowing the measure of how gaze probes three-dimensional space in immersion is used to support this model. Fractal computations of gaze behavior are shown to be more effective than standard computations of eye movements in predicting presence.

Fetal hydronephrosis: is there hope for consensus?

This review article aims at summarizing the data regarding fetal and neonatal hydronephrosis, at correlating controversial data with the differences in the practice of obstetrical sonography from one country to another, and finally, at presenting our own criteria for fetal renal collecting system dilatation along with our own guidelines of postnatal investigation.

Eye-tracking in immersive environments: a general methodology to analyze affordance-based interactions from oculomotor dynamics.

This paper aims at presenting a new methodology to study how perceptual and motor processes organized themselves in order to achieve invariant visual information picking-up in virtual immersions. From a head-mounted display, head and eye movements were recorded using tracking devices (magnetic and infrared) that render the six degrees-of-freedom associated with the position and orientation of head movements, and two degrees-of-freedom from one eye. We measured the continuous line of sight's deviation from a pre-selected area on a virtual stimulus.