862 resultados para Family strategies of reproduction
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Mode of access: Internet.
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Mode of access: Internet.
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Mode of access: Internet.
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Group photo of Levon and Satenig Kevorkian (Jack Kevorkian's parents), his sisters Flora and Margo, Jack Kevorkian as a teenager and a child, and Satenig Kevorkian.
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Contains also geneal. tables of the Dymoke, Welles, and Kyme families.
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Hereditary pancreatitis is an autosomal dominant condition characterized by recurrent episodes of acute pancreatitis, usually starting in childhood. We present a family who was ascertained when an 11-year-old girl presented with an episode of acute pancreatitis. Her father and other family members had also had recurrent bouts of acute pancreatitis. Genetic testing revealed a pathogenic mutation in the cationic trypsinogen gene in the proband, her father and her paternal grandmother. As far as we are aware, this is the first Aboriginal kindred with mutation-proven hereditary pancreatitis. Hereditary pancreatitis is an important differential diagnosis to consider in a patient with recurrent episodes of acute pancreatitis with no obvious precipitating cause. This family is of Aboriginal descent and the implications of the family's background are also discussed when considering the aetiology of the condition. We emphasize the need to ascertain a full family history from patients with a history of repeated episodes of acute pancreatitis and also emphasize the need to avoid ethnic stereotypes when assessing patients.
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This study examined possible links between the occurrence of prosodic changes to vocalizations and gestures and the use of problem behaviors by children with autism when attempting to repair communication breakdowns. The repair strategies of six children with autism aged 2-5 years and with fewer than 10 words or signs were analyzed. Mother-child dyads were videotaped at home interacting in naturally occurring contexts. Videotapes were analyzed and coded for communication breakdowns and repair attempts made by the child. Repairs were further analyzed according to the type of repair strategy used, changes in prosidy, and whether the repair mode involved problematic or non-problematic behavior. In most situations, this group of children attempted to repair breakdowns in communication that occurred while interacting with their mothers. Most children used both nonproblematic and problematic behaviors and were less likely to use augmentations as a repair strategy than repetitions and substitutions. Some repetitions and some augmentations involved the use of gestures or vocalizations with increased emphasis or prosidy. Possible links between repair strategies involving increased prosidy and the use of problem behaviors are discussed together with the implications and significance of these finding in relation to early intervention for children with significant communication impairments. (C) 2004 Elsevier Ltd. All rights reserved.
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Contrast enhanced magnetic resonance imaging (CE MRI) is the most sensitive tool for screening women who are at high familial risk of breast cancer. Our aim in this study was to assess the cost-effectiveness of X-ray mammography (XRM), CE MRI or both strategies combined. In total, 649 women were enrolled in the MARIBS study and screened with both CE MRI and mammography resulting in 1881 screens and 1-7 individual annual screening events. Women aged 35-49 years at high risk of breast cancer, either because they have a strong family history of breast cancer or are tested carriers of a BRCA1, BRCA2 or TP53 mutation or are at a 50% risk of having inherited such a mutation, were recruited from 22 centres and offered annual MRI and XRM for between 2 and 7 years. Information on the number and type of further investigations was collected and specifically calculated unit costs were used to calculate the incremental cost per cancer detected. The numbers of cancer detected was 13 for mammography, 27 for CE MRI and 33 for mammography and CE MRI combined. In the subgroup of BRCA1 (BRCA2) mutation carriers or of women having a first degree relative with a mutation in BRCA1 (BRCA2) corresponding numbers were 3 (6), 12 (7) and 12 (11), respectively. For all women, the incremental cost per cancer detected with CE MRI and mammography combined was 28 pound 284 compared to mammography. When only BRCA1 or the BRCA2 groups were considered, this cost would be reduced to 11 pound 731 (CE MRI vs mammography) and 15 pound 302 (CE MRI and mammography vs mammography). Results were most sensitive to the unit cost estimate for a CE MRI screening test. Contrast-enhanced MRI might be a cost-effective screening modality for women at high risk, particularly for the BRCA1 and BRCA2 subgroups. Further work is needed to assess the impact of screening on mortality and health-related quality of life.
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Dilated cardiomyopathy (DCM) is an etiologically heterogeneous cardiac disease characterized by left ventricular dilation and systolic dysfunction. Approximately 25-30% of DCM patients show a family history of mainly autosomal dominant inheritance. We and others have previously demonstrated that mutations in the giant muscle filament titin (TTN) can cause DCM. However, the prevalence of titin mutations in familial DCM is unknown. In this paper, we report a novel heterozygous 1-bp deletion mutation (c.62890delG) in TTN that cosegregates with DCM in a large Australian pedigree (A3). The TTN deletion mutation c.62890delG causes a frameshift, thereby generating a truncated A-band titin due to a premature stop codon (p.E20963KfsX10) and the addition of ten novel amino acid residues. The clinical phenotype of DCM in kindred A3 demonstrates incomplete penetrance and variable expressivity. Finally, protein analysis of a skeletal muscle biopsy sample from an affected member did not reveal the predicted truncated titin isoform although the aberrant mRNA was present, suggesting posttranslational modification and degradation of the truncated protein. The identification of a novel disease-causing mutation in the giant titin gene in a third large family with DCM indicates that mutations in titin may account for a significant portion of the genetic etiology in familial DCM.
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Understanding the client's perspective is essential for good practitioner care in rehabilitation after stroke, and nothing is more relevant than enquiring directly about our clients' quality of life to inform our management. Relatively little is known about how older people with aphasia consider the quality of their current lives, and this article seeks to explore this issue. Four women's accounts of their life quality are presented, as well as their husbands' or daughter's accounts of their lives. Their stories share some common elements. Who you love or share your life with; where you live; feeling independent and/or in control; and engaging in satisfying activities mattered to these women's life quality. The impact of aphasia varies across the cases, and the need to accept change for successful living is illustrated in all accounts.
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This research project focused upon the design strategies adopted by expert and novice designers. It was based upon a desire to compare the design problem solving strategies of novices, in this case key stage three pupils studying technolgy within the United Kingdom National Curriculum, with designers who could be considered to have developed expertise. The findings helped to provide insights into potential teaching strategies to suit novice designers. Verbal protocols were made as samples of expert and novice designers solved a design problem and talked aloud as they worked. The verbalisations were recorded on video tape. The protocols were transcribed and segmented, with each segment being assigned to a predetermined coding system which represented a model of design problem solving. The results of the encoding were analysed and consideration was also given to the general design strategy and heuristics used by the expert and novice designers. The drawings and models produced during the generation of the protocols were also analysed and considered. A number of significant differences between the problem solving strategies adopted by the expert and novice designers were identified. First of all, differences were observed in the way expert and novice designers used the problem statement and solution validation during the process. Differences were also identified in the way holistic solutions were generated near the start of the process, and also in the cycles of exploration and the processes of integration. The way design and technological knowledge was used provided further insights into the differences between experts and novices, as did the role of drawing and modelling during the process. In more general terms, differences were identified in the heuristics and overall design strategies adopted by the expert and novice designers. The above findings provided a basis for discussing teaching strategies appropriate for novice designers. Finally, opportunities for future research were discussed.
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This study investigates the strategies adopted by Australian manufacturing firms to sustain their local production and competitiveness, including during the period of the recent global financial crisis. Six Australian manufacturing organisations in different sectors were selected and analysed using the market-based and resource-based views, and components of the DRAMA framework. The findings highlight several factors and company efforts to sustain manufacturing operations. These organisations pursued a range of manufacturing strategies to enable distinctive offerings in the marketplace and used various ways to differentiate themselves. This was possible through the portfolio of capabilities that determine their continued production and business performance over the period. This study provides important lessons for managers in manufacturing organisations and demonstrates how differing capabilities and strategies of firms can impact the competitiveness of local production, not only in times of economic crisis but also in the long run to sustainable competitiveness in the future.