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41.
AIMS/BACKGROUND: To characterise clinically a large kindred segregating retinitis pigmentosa and sensorineural hearing impairment in an autosomal dominant pattern and perform genetic linkage studies in this family. Extensive linkage analysis in this family had previously excluded the majority of loci shown to be involved in the aetiologies of RP, some other forms of inherited retinal degeneration, and inherited deafness. METHODS: Members of the family were subjected to detailed ophthalmic and audiological assessment. In addition, some family members underwent skeletal muscle biopsy, electromyography, and electrocardiography. Linkage analysis using anonymous microsatellite markers was performed on DNA samples from all living members of the pedigree. RESULTS: Patients in this kindred have a retinopathy typical of retinitis pigmentosa in addition to a hearing impairment. Those members of the pedigree examined demonstrated a subclinical myopathy, as evidence by abnormal skeletal muscle histology, electromyography, and electrocardiography. LOD scores of Zmax = 3.75 (theta = 0.10), Zmax = 3.41 (theta = 0.10), and Zmax = 3.25 (theta = 0.15) respectively were obtained with the markers D9S118, D9S121, and ASS, located on chromosome 9q34-qter, suggesting that the causative gene in this family may lie on the long arm (q) of chromosome 9. CONCLUSIONS: These data indicate that the gene responsible for the phenotype in this kindred is located on chromosome 9 q. These data, together with evidence that a murine deafness gene is located in a syntenic area of the mouse genome, should direct the research community to consider this area as a candidate region for retinopathy and/or deafness genes.  相似文献   
42.
The paper proposes and describes several tools enabling their user to estimate the efficiency of Pascal or C-like programs. The approach consists of generating symbolic formulas expressing the efficiency of the programs being analyzed. The formulas are applicable to a variety of compiler-machine configurations. The actual numeric values of the variables in the symbolic formula are determined using linear programming techniques. The proposed approach reduces considerably the amount of benchmarking needed to analyze programs. Several examples are presented showing the applicability of the tools. The effort necessary to implement them is considerably reduced by the combined usage of Prolog and a symbolic formula manipulation package (Maple).  相似文献   
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Four experiments were conducted to identify the locus of interference observed during the preparation of bimanual reaching movements. Target locations were specified by color, and the right-hand and left-hand targets could be either the same or a different color. Movements of different amplitudes (Experiment 1) or different directions (Experiment 2) to targets of the same color were initiated more quickly than symmetric movements to targets of different colors. These results indicate that costs observed during bimanual movements arise during target selection rather than during motor programming. Experiments 3 and 4 further examined the interference associated with target selection. Reaction time costs were found with unimanual movements when the target was presented among distractors associated with responses for the other hand. Interference observed during bimanual reaching appears to reflect difficulty in segregating the response rules assigned to each hand. (PsycINFO Database Record (c) 2010 APA, all rights reserved)  相似文献   
44.
Examined psychosocial variables by comparing 10 13–17 yr old adolescents (and their mothers) who had refused cancer treatment with a group of 10 consenting adolescents who were matched on age and demographic and illness variables. Adolescents completed the State-Trait Anxiety Inventory for Children and measures of family characteristics, locus of control, religion, hopelessness, impact of event, and satisfaction with physician. Mothers completed the State-Trait Anxiety Inventory and measures of coping and religion. Adolescent refusers scored lower on state anxiety and subjective distress but scored higher on trait anxiety, religiosity, and external locus of control. Their mothers also scored higher than did the consenting-group mothers on religiosity and trait anxiety. It is suggested that refusers are prone to anxiety and cope with their present distress by maintaining the belief that their lives are determined by fate or religious convictions. An intervention approach that fosters mastery over the cancer experience is advocated. (8 ref) (PsycINFO Database Record (c) 2010 APA, all rights reserved)  相似文献   
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A systematic study of wall effects on the shear viscosity of short glass fiber-filled polypropylene and polystyrene is presented. The dependence of these effects on capillary radius, shear rate, temperature, and polymer matrix is examined. The “true” viscosity curves of these materials (free from wall effects) can be obtained by an extrapolation procedure. Breakage of glass fibers in the high shear-rate processes of extrusion and injection molding lead to an appreciable reduction of the viscosity of these materials and is probably the more important effect to take into account in these processes.  相似文献   
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We were concerned with the effects of item repetition, list length, and class of item on free recall in elderly as compared with young adults. In Experiment 1, samples of young and elderly adults recalled a list of 27 words and a list of 27 action events (minitasks performed by the subjects). Some items were presented once and some twice. Although the younger subjects showed better recall on both types of lists, the older sample benefited from item repetition as much as did the younger sample. This finding was replicated in Experiment 2. A second finding in Experiment 2 was a significant aging effect in the recall of long but not of short lists of both words and action events. The absence of an Age?×?Repetition Effect interaction was ascribed to the strength nature of the repetition manipulation. The age effects in the recall of the long lists were attributed to possible deficits in retrieval proficiency. (PsycINFO Database Record (c) 2010 APA, all rights reserved)  相似文献   
50.
Four intervention models that aim to reduce problematic caregiver–infant relationships are reviewed within the context of attachment theory. These models include support, guidance, psychotherapy, and infant-led psychotherapy. All of the models are consistent with attachment theory in that they aim to enhance maternal sensitivity and responsiveness. Only infant-led psychotherapy focuses primarily on the mother–infant relationship and directly includes the infant in treatment instead of focusing and working primarily with the more verbal partner, the caregiver. Thus, of the 4 interventions, infant-led psychotherapy is most consistent with the current empirical and theoretical understanding of infants as active contributors to their relationships and development. However, there is little empirical research on this intervention; the bulk of studies evaluate support and guidance. (PsycINFO Database Record (c) 2010 APA, all rights reserved)  相似文献   
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