65 resultados para DOMINANT RETINITIS-PIGMENTOSA


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PURPOSE: Subjects with significant peripheral field loss (PFL) self report difficulty in street crossing. In this study, we compared the traffic gap judgment ability of fully sighted and PFL subjects to determine whether accuracy in identifying crossable gaps was adversely affected because of field loss. Moreover, we explored the contribution of visual and nonvisual factors to traffic gap judgment ability. METHODS: Eight subjects with significant PFL as a result of advanced retinitis pigmentosa or glaucoma with binocular visual field <20 degrees and five age-matched normals (NV) were recruited. All subjects were required to judge when they perceived it was safe to cross at a 2-way 4-lane street while they stood on the curb. Eye movements were recorded by an eye tracker as the subjects performed the decision task. Movies of the eye-on-scene were made offline and fixation patterns were classified into either relevant or irrelevant. Subjects' street-crossing behavior, habitual approach to street crossing, and perceived difficulties were assessed. RESULTS: Compared with normal vision (NV) subjects, the PFL subjects identified 12% fewer crossable gaps while making 23% more errors by identifying a gap as crossable when it was too short (p < 0.05). The differences in traffic gap judgment ability of the PFL subjects might be explained by the significantly smaller fixation area (p = 0.006) and fewer fixations distributed to the relevant tasks (p = 0.001). The subjects' habitual approach to street crossing and perceived difficulties in street crossing (r > 0.60) were significantly correlated with traffic gap judgment performance. CONCLUSIONS: As a consequence of significant field loss, limited visual information about the traffic environment can be acquired, resulting in significantly reduced performance in judging safe crossable gaps. This poor traffic gap judgment ability in the PFL subjects raises important concerns for their safety when attempting to cross the street.

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Background Interferon ? receptor 1 (IFN? R1) deficiency is a primary immunodeficiency with allelic dominant and recessive mutations characterised clinically by severe infections with mycobacteria. We aimed to compare the clinical features of recessive and dominant IFN?R1 deficiencies. Methods We obtained data from a large cohort of patients worldwide. We assessed these people by medical histories, records, and genetic and immunological studies. Data were abstracted onto a standard form. Findings We identified 22 patients with recessive complete IFN?R1 deficiency and 38 with dominant partial deficiency. BCG and environmental mycobacteria were the most frequent pathogens. In recessive patients, 17 (77%) had environmental mycobacterial disease and all nine BCG-vaccinated patients had BCG disease. In dominant patients, 30 (79%) had environmental mycobacterial disease and 11 (73%) of 15 BCG-vaccinated patients had BCG disease. Compared with dominant patients, those with recessive deficiency were younger at onset of first environmental mycobacterial disease (mean 3·1 years [SD 2·5] vs 13·4 years [14·3], p=0·001), had more mycobacterial disease episodes (19 vs 8 per 100 person-years of observation, p=0·0001), had more severe mycobacterial disease (mean number of organs infected by Mycobacterium avium complex 4·1 [SD 0·8] vs 2·0 [1·1], p=0·004), had shorter mean disease-free intervals (1·6 years [SD 1·4] vs 7·2 years [7·6], p

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This paper reports on atomistic simulations of the interactions between the dominant lattice dislocations in ?-TiAl (<1 0 1] superdislocations) with all three kinds of ?/?-lamellar boundaries in polysynthetically twinned (PST) TiAl. The purpose of this study is to clarify the early stage of lamellar boundary controlled plastic deformation in PST TiAl. The interatomic interactions in our simulations are described by a bond order potential for L10-TiAl which provides a proper quantum mechanical description of the bonding. We are interested in the dislocation core geometries that the lattice produces in proximity to lamellar boundaries and the way in which these cores are affected by the elastic and atomistic effects of dislocation-lamellar boundary interaction. We study the way in which the interfaces affect the activation of ordinary dislocation and superdislocation slip inside the ?-lamellae and transfer of plastic deformation across lamellar boundaries. We find three new phenomena in the atomic-scale plasticity of PST TiAl, particularly due to elastic and atomic mismatch associated with the 60° and 120° ?/?-interfaces: (i) two new roles of the ?/?-interfaces, i.e. decomposition of superdislocations within 120° and 60° interfaces and subsequent detachment of a single ordinary dislocation and (ii) blocking of ordinary dislocations by 60° and 120° interfaces resulting in the emission of a twinning dislocation.

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The relative plasticity hypothesis predicts that alternative tactics are associated with changes in steroid hormone levels. In species with alternative male reproductive tactics, the highest androgen levels have usually been reported in dominant males. However, in sociable species, dominant males show amicable behaviors to gain access to females, which might conflict with high testosterone levels. We compared testosterone, corticosterone, and resting metabolic rate in male striped mice (Rhabdomys pumilio) following a conditional strategy with three different reproductive tactics: (i) philopatric group-living males, (ii) solitary-living roamers, (iii) dominant but sociable group-living territorial breeders. Philopatrics had the lowest testosterone but highest corticosterone levels, suggesting that they make the best of a bad job. Dominant territorial breeders had lower testosterone levels than roamers, which have a lower competitive status. Roamers had the highest testosterone levels, which might promote risky behavior, such as invading territories defended by territorial males. Roamers also had lower resting metabolic rates than either type of group-living males. Our results suggest that dominant males' testosterone levels reflect a trade-off between low testosterone amicable behavior and high testosterone dominance behavior.

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The existence of familial de Lange syndrome has been documented in sibs and in parent-child families, but the inheritance pattern continues to be the cause of much debate. We describe a classically affected neonate with de Lange syndrome, an affected mother and probably affected maternal grandmother. These cases show evidence for a dominantly inherited syndrome with a de Lange phenotype.