80 resultados para HALF-LIVES


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Investigation of 31 of Roma patients with congenital lactic acidosis (CLA) from Bulgaria identified homozygosity for the R446* mutation in the PDHX gene as the most common cause of the disorder in this ethnic group. It accounted for around 60% of patients in the study and over 25% of all CLA cases referred to the National Genetic Laboratory in Bulgaria. The detection of a homozygous patient from Hungary and carriers among population controls from Romania and Slovakia suggests a wide spread of the mutation in the European Roma population. The clinical phenotype of the twenty R446* homozygotes was relatively homogeneous, with lactic acidosis crisis in the first days or months of life as the most common initial presentation (15/20 patients) and delayed psychomotor development and/or seizures in infancy as the leading manifestations in a smaller group (5/20 patients). The subsequent clinical picture was dominated by impaired physical growth and a very consistent pattern of static cerebral palsy-like encephalopathy with spasticity and severe to profound mental retardation seen in over 80% of cases. Most patients had a positive family history. We propose testing for the R446* mutation in PDHX as a rapid first screening in Roma infants with metabolic acidosis. It will facilitate and accelerate diagnosis in a large proportion of cases, allow early rehabilitation to alleviate the chronic clinical course, and prevent further affected births in high-risk families.

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The Queensland Organised Crime Commission of Inquiry recently handed down its findings examining how organised crime has been policed in recent years. While media attention has been focused on the implications for child sexual exploitation and paedophilia, the report also made some substantial findings related to financial crimes such as investment fraud (commonly known as boiler rooms scams). Quite disturbingly, the report notes a strong victim blaming mentality that police expressed towards individuals who invested in fraudulent companies and who subsequently lost money in these boiler room scams. The attitude of the police towards boiler room victims was largely one of apathy towards the likelihood of any investigation, and of blame towards victims for not doing what was perceived to be “due diligence”. This finding illustrates several myths which are argued to exist around investment fraud victims, particularly around the concept of “due diligence”. It also feeds into the idea that victims are greedy/naïve and financially illiterate/not investment savvy. These are both problematic and largely inaccurate. Drawing on examples from my own research with fraud victims, the article will illustrate the complexity and sophistication of many boiler room schemes and demonstrate the difficulties in identifying fraudulent investment opportunities.

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Anna Morgan, the central character of Jean Rhys's Voyage in the Dark, has previously been read as a victim of her own inability to fashion some form of life for herself.1 It is possible, however, to suggest an alternative to such character-based readings and instead examine the systems of oppression which work to ensure that Anna remains an excluded, marginalized subject. Rather than personal failings, it is Anna's gender and colonial status which prevent her from participating fully in the dominant social and economic order of Voyage in the Dark. Anna is textually constrained on three levels, which may be defined as economic, colonialist, and narrative. Imbricated within these is the question of gender, which functions to place Anna in a position of double-exclusion within the text. These forms of exclusion function at the levels of discourse and narrative; I would argue that Anna's position is not, therefore, a product of realist character 'flaws' but rather that her discursive placement within the novel offers insight into the ways in which colonialism and sexism function in terms of textuality.

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The challenges of conducting lengthy field work in today’s busy academic world have impacted the types of research that are able to be carried out. In particular, traditional educational ethnography has become problematic for research beyond initial doctoral research programs. This paper analyzes data collected during a return to the field of a study about literate lives, eleven years after the initial data collection. It considers the implications of exploring people’s lives over time.