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Udgivelsesdato: 2008-Mar, Autism spectrum disorders (ASDs) are a heterogeneous group of disorders with unknown aetiology. Even though ASDs are suggested to be among the most heritable complex disorders, only a few reproducible mutations leading to susceptibility for ASD have been identified. In an attempt to identify ASD susceptibility genes through chromosome rearrangements, we investigated a female patient with childhood autism and high-grade myopia, and an apparently balanced de novo translocation, t(5;18)(q34;q12.2). Further analyses revealed a 3.2 Mb deletion encompassing 17 genes at the 18q break point and an additional deletion of 1.27 Mb containing two genes on chromosome 4q35. Q-PCR analysis of 14 of the 17 genes deleted on chromosome 18 showed that 11 of these genes were expressed in the brain, suggesting that haploinsufficiency of one or more genes may have contributed to the childhood autism phenotype of the patient. Identification of multiple genetic changes in this patient with childhood autism agrees with the most frequently suggested genetic model of ASDs as complex, polygenic disorders.

The first brief description is given of a project aimed at searching for the neural correlates of consciousness through computer simulation. The underlying model is based on the known circuitry of the mammalian nervous system, the neuronal groups of which are approximated as binary composite units. The simulated nervous system includes just two senses - hearing and touch - and it drives a set of muscles that serve vocalisation, feeding and bladder control. These functions were chosen because of their relevance to the earliest stages of human life, and the simulation has been given the name CyberChild. The system pain receptors respond to a sufficiently low milk level in the stomach, if there is simultaneously a low level of blood sugar and also to a full bladder and an unchanged diaper It is believed that it may be possible to infer the presence of consciousness in the simulation through observations of CyberChild behaviour and from the monitoring of its ability to ontogenetically acquire novel reflexes. The author has suggested that this ability is the crucial evolutionary advantage of possessing consciousness. The project is still in its very early stages, and although no suggestion of consciousness has yet emerged, there appears to be no fundamental reason why consciousness could not ultimately develop and be observed.

Psykologi, perception, syn, opmærksomhed

The free-volume distribution in a simulated Lennard-Jones liquid is heterogeneous. Chains of holes, appearing as segments rather than a continuous network, have lifetimes that are brief compared with the mean vibration period of the atoms. Larger isolated holes persist for longer times. If the chains are interpreted as dislocation cores, the observed dislocation density is 1.0×1014 cm-2, but the actual density is probably higher.

The thermodynamic properties of clusters containing 55, 135, and 429 atoms have been calculated using the molecular dynamics method. Structural and vibrational properties of the clusters were examined at different temperatures in both the solid and the liquid phase. The nature of the melting transition was investigated, and a number of properties, such as melting temperature, latent heat of melting, and premelting phenomena, were found to vary with cluster size. These properties were also found to depend on the structure of the solid phase. In this phase the configuration of lowest free energy was found to be icosahedral in the 55-atom system and face centered cubic for the two larger systems. ©1974 American Institute of Physics

Sections of configuration space for Lennard-Jones matter were obtained by probing all the normal-mode energy profiles, following diagonalization of the dynamical matrix for a 240-particle system. For the crystal and sufficiently cold glass, these are single welled, whereas increasing numbers of double wells occur as the glass is warmed toward the fluid. This indicates that there might be a fundamental difference between the topologies of the constant-potential-energy hypersurfaces of crystalline and noncrystalline Lennard-Jones matter.

Single-crystal aluminium specimens, irradiated with 50-keV aluminium ions, contain dislocation loops that are arranged in regular rows along <110 > directions. ©1967 The American Institute of Physics

Aluminium single crystals, thin enough to be examined by electron microscopy, have been irradiated with 50-keV aluminium and copper ions. The irradiation fluxes were in the range 1011–1014 cm−2 s−1 and the doses were from 6 × 1012 to 6 × 1014 cm−2. Irradiation along either a or a direction produces rows of dislocation loops all lying parallel to one particular direction. If the aluminium target is quenched from 600 °C and annealed at room temperature prior to irradiation with aluminium ions, the rows of loops are suppressed. The amount of damage observed is considerably less than would be expected from isotropic damage theory.