18 research outputs found

    Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency

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    OBJECTIVE: To define phenotypic groups and identify predictors of disease severity in patients with phosphoglucomutase-1 deficiency (PGM1-CDG). STUDY DESIGN: We evaluated 27 patients with PGM1-CDG who were divided into 3 phenotypic groups, and group assignment was validated by a scoring system, the Tulane PGM1-CDG Rating Scale (TPCRS). This scale evaluates measurable clinical features of PGM1-CDG. We examined the relationship between genotype, enzyme activity, and TPCRS score by using regression analysis. Associations between the most common clinical features and disease severity were evaluated by principal component analysis. RESULTS: We found a statistically significant stratification of the TPCRS scores among the phenotypic groups (P < .001). Regression analysis showed that there is no significant correlation between genotype, enzyme activity, and TPCRS score. Principal component analysis identified 5 variables that contributed to 54% variance in the cohort and are predictive of disease severity: congenital malformation, cardiac involvement, endocrine deficiency, myopathy, and growth. CONCLUSIONS: We established a scoring algorithm to reliably evaluate disease severity in patients with PGM1-CDG on the basis of their clinical history and presentation. We also identified 5 clinical features that are predictors of disease severity; 2 of these features can be evaluated by physical examination, without the need for specific diagnostic testing and thus allow for rapid assessment and initiation of therapy

    Zombies and IR: a critical reading

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    The zombie genre is quickly becoming a feature of International Relations (IR) classrooms and pedagogical toolkits as scholars enthusiastically embrace the undead as a vehicle for teaching the discipline. This article offers a cautionary note on a generally positive move to embrace the use of zombieism in IR. It shows how an uncritical use of a zombie apocalypse as a vehicle for teaching IR can reinforce existing divisions in the field, essentialise country positions, crowd out heterodox approaches, reinforce gender stereotypes and dehumanise people. To guard against these problems, the article shows how Zombie IR can be better used to think critically and normatively about world politics
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