969 resultados para autosomal dominant disorder


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Prior family and adoption studies have suggested a genetic relationship between schizophrenia and schizotypy. However, this has never been verified using linkage methods. We therefore attempted to test for a correlation in linkage signals from genome-wide scans of schizophrenia and schizotypy. The Irish study of high-density schizophrenia families comprises 270 families with at least two members with schizophrenia or poor-outcome schizoaffective disorder (n = 637). Non-psychotic relatives were assessed using the structured interview for schizotypy (n = 746). A 10-cM multipoint, non-parametric, autosomal genomewide scan of schizophrenia was performed in Merlin. A scan of a quantitative trait comprising ratings of DSM-III-R criteria for schizotypal personality disorder in non-psychotic relatives was also performed. Schizotypy logarithm of the odds (LOD) scores were regressed onto schizophrenia LOD scores at all loci, with adjustment for spatial autocorrelation. To assess empirical significance, this was also carried out using 1000 null scans of schizotypy. The number of jointly linked loci in the real data was compared to distribution of jointly linked loci in the null scans. No markers were suggestively linked to schizotypy based on strict Lander Kruglyak criteria. Schizotypy LODs predicted schizophrenia LODs above chance expectation genome wide (empirical P = 0.04). Two and four loci yielded nonparametric LOD (NPLs) > 1.0 and > 0.75, respectively, for both schizophrenia and schizotypy (genome-wide empirical P = 0.04 and 0.02, respectively). These results suggest that at least a subset of schizophrenia susceptibility genes also affects schizotypy in non-psychotic relatives. Power may therefore be increased in molecular genetic studies of schizophrenia if they incorporate measures of schizotypy in non-psychotic relatives.

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As architects and designers we have a responsibility to provide an inclusive built environment. For the Autistic Spectrum Disorder (ASD) sufferer however, the built environment can be a frightening and confusing place, difficult to negotiate and tolerate. The challenge of integrating more fully into society is denied by an alienating built environment. This barrier can be magnified for ASD pupils in a poorly designed school, where their environment can further distance them from learning. Instead, if more at ease in their surroundings, in an ASD friendly environment, the ASD pupil stands a greater chance of doing better.

Whilst researchers have looked at the classroomenvironment, the transition of classroom to corridor andbeyond has so far been largely ignored. However, theneed for a well-considered threshold between class andcorridor needs to be considered. In this regard, threshold is much more than a doorway, but instead an event that demands a carefully considered place. The following paper firstly outlines why threshold as place andevent for the ASD pupil should be given consideration. It then goes onto highlight, through case studies in anIrish context, the opportunities for aiding the ASD pupil integrating in a mainstream school environment throughsensitive use of threshold. Finally it highlights inconclusion, some of the benefits for an enriched school environment for all pupils, if considering threshold as design generator.The objective is straightforward. By increasing awareness of the relationship between the ASD child and the built environment it will hopefully facilitate greater inclusion of the ASD pupil into mainstream education and society at large.

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Cognitive models of posttraumatic stress disorder (PTSD) assert that memory processes play a significant role in PTSD (see e.g., Ehlers & Clark, 2000). Intrusive reexperiencing in PTSD has been linked to perceptual processing of trauma-related material with a corresponding hypothesized lack of conceptual processing. In an experimental study that included clinical participants with and without PTSD (N = 50), perceptual priming and conceptual priming for trauma-related, general threat, and neutral words were investigated in a population with chronic trauma-induced complaints as a result of the Troubles in Northern Ireland. The study used a new version of the word-stem completion task (Michael, Ehlers, & Halligan, 2005) and a word-cue association task. It also assessed the role of dissociation in threat processing. Further evidence of enhanced perceptual priming in PTSD for trauma stimuli was found, along with evidence of lack of conceptual priming for such stimuli. Furthermore, this pattern of priming for trauma-related words was associated with PTSD severity, and state dissociation and PTSD group made significant contributions to predicting perceptual priming for trauma words. The findings shed light on the importance of state dissociation in trauma-related information processing and posttraumatic symptoms.

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The ground-state entanglement entropy between block of sites in the random Ising chain is studied by means of the Von Neumann entropy. We show that in presence of strong correlations between the disordered couplings and local magnetic fields the entanglement increases and becomes larger than in the ordered case. The different behavior with respect to the uncorrelated disordered model is due to the drastic change of the ground state properties. The same result holds also for the random three-state quantum Potts model.

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Nosema ceranae is an emergent and potentially virulent pathogen of the honey bee (Apis mellifera) that has spread across the world in the last 10 or so years. Its precise origin and timing of spread are currently unclear because of a lack of appropriate genetic markers and inadequate sampling in putative Asian source populations. Though it has been dismissed as a cause of CCD in the USA based on correlational analyses of snapshot sampling of diseased hives, observations of naturally infected colonies suggest that it leads to colony collapse in Spain. Experiments are sorely needed to investigate its impact on individuals and colonies, and to pin down a causal relationship between N. ceranae and colony collapse. Whether N. ceranae is displacing N. apis is uncertain. For temperate zone apiculturalists, global climate change may mean that N. ceranae presents more of a challenge than has hitherto been considered the case.

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We propose a one-dimensional rice-pile model which connects the 1D BTW sandpile model (Phys. Rev. A 38 (1988) 364) and the Oslo rice-pile model (Phys. Rev. Lett. 77 (1997) 107) in a continuous manner. We found that for a sufficiently large system, there is a sharp transition between the trivial critical behaviour of the 1D BTW model and the self-organized critical (SOC) behaviour. When there is SOC, the model belongs to a known universality class with the avalanche exponent tau = 1.53. (C) 1999 Elsevier Science B.V. All rights reserved.

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This study used the Movement Assessment Battery for Children (M-ABC2) to assess the level of motor skill in children aged 7-10 years with autism (n=18) and compared their performance to two groups of age-matched typically developing children; a receptive vocabulary matched group (n=19) and a nonverbal IQ matched group (n=22). Although the results support previous work, as indicated by a significant general motor impairment in the group with autism, a sub-analysis of the M-ABC2 revealed that there were only 2 out of 8 subcomponent skills which showed universally significant specific deficits for the autism group; namely catching a ball and static balance. These results suggest that motor skill deficits associated with autism may not be pervasive but more apparent in activities demanding complex, interceptive actions or core balance ability.

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As architects and designers we have a responsibility to provide an inclusive built environment. For the person with Autistic Spectrum Disorder (ASD) however, the built environment can be a frightening and confusing place, difficult to negotiate and tolerate. The challenge of integrating more fully into society is denied by both having difficulty in communication and in an alienating built environment. The following paper therefore firstly outlines the challenge when designing for those with ASD. It then illustrates, by critically examining the school as a 'micro-city' (Hertzberger 2008) that a voice can be given to those with ASD. It then goes onto highlight, through two case studies in an Irish context, some of the lessons that can be learnt from pupils with ASD that are applicable to the city beyond. Finally in conclusion it suggests some of the benefits for an enriched built environment for all, when listening to the pupil with ASD. The objective is twofold; firstly to gain a better understanding of the needs of those with ASD and secondly, to ascertain what can be learnt from those with ASD that can challenge our perception of not just school, but also of the city.