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111.
First trimester prenatal diagnosis was offered to the mother of a child affected by severe haemolytic anaemia due to glucose phosphate isomerase (GPI) deficiency. The mutant enzyme was characterized by an increased thermal lability. Both parents had 50 per cent normal red cell GPI activity. We have shown that the homozygous and heterozygous genotypes can be clearly distinguished from each other and controls by combinations of the measurement of enzyme activity and enzyme thermal lability. Examination of trophoblast cells obtained at 9 weeks of gestation led to the diagnosis of a GPI heterozygous fetus. The result was confirmed by analysis on uncultured and cultured amniotic fluid cells sampled at 16 weeks and by red blood cell studies of the healthy newborn. Prenatal diagnosis of GPI deficiency is indicated in families with previous cases resulting in severe haemolysis and mainly with the conservative view of arranging appropriate therapeutic measures for affected fetuses.  相似文献   
112.
Through a qualitative case study, this paper describes the everyday experience of conflict as a serious impact of noxious facilities. It describes intra-community conflict over two existing waste facilities (a regional landfill and a low-level hazardous waste facility) in Ryley, Alberta, Canada. Twenty-seven in-depth face-to-face interviews and one focus group reveal deep conflict presented as frustration, anger, social isolation and strained social relations between locals who ‘support’ the facilities as a means of bolstering the local economy and those who do not (mainly long-time resident farmers). Although the type of hazard exposure (i.e. existing facilities) is important for explaining why conflict developed and became entrenched, it is argued that the nature of community, and in particular differences in ways of life, are also critical determinants. The findings are compared to theory and other case studies concerning why social conflict develops over technological hazards. Implications for environmental impact assessment and environmental appeals are discussed, as well as compensation as one avenue for equitably reducing conflict.  相似文献   
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