Inborn errors of metabolism are genetic disorders due to impaired activity of enzymes, transporters, or cofactors resulting in accumulation of abnormal metabolites proximal to the metabolic block, lack of essential products or accumulation of by-products. Many of these disorders have serious clinical consequences for affected neonates, and an early diagnosis allows presymptomatic treatment which can prevent severe permanent sequelae and in some cases death. Expanded newborn screening for these diseases is a promising field of targeted metabolomics. Here we report the application, between 2007 and 2014, of this approach to the identification of newborns in southern Italy at risk of developing a potentially fatal disease. The analysis of amino acids and acylcarnitines in dried blood spots by tandem mass spectrometry revealed 24 affected newborns among 45,466 infants evaluated between 48 and 72 hours of life (overall incidence: 1 : 1894). Diagnoses of newborns with elevated metabolites were confirmed by gas chromatography-mass spectrometry, biochemical studies, and genetic analysis. Five infants were diagnosed with medium-chain acyl CoA dehydrogenase deficiency, 1 with methylmalonic acidemia with homocystinuria type CblC, 2 with isolated methylmalonic acidemia, 1 with propionic acidemia, 1 with isovaleric academia, 1 with isobutyryl-CoA dehydrogenase deficiency, 1 with beta ketothiolase deficiency, 1 with short branched chain amino acid deficiency, 1 with 3-methlycrotonyl-CoA carboxylase deficiency, 1 with formimino-transferase cyclodeaminase deficiency, and 1 with cystathionine-beta-synthase deficiency. Seven cases of maternal vitamin B12 deficiency and 1 case of maternal carnitine uptake deficiency were detected. This study supports the widespread application of metabolomic-based newborn screening for these genetic diseases.
Summary We use the resource‐based theory and leadership categorization theory to develop hypotheses about ethnic minority CEO turnover. Using survival analysis, we test the hypotheses and find that, as a group, ethnic minority CEOs at US firms experience only about half of the risk of turnover at any time as do nonethnic minority CEOs. However, the risk is not spread evenly across ethnic minority subgroups. Asian and Hispanic CEOs experience lower risk of turnover than nonethnic minority CEOs. Black CEOs of US firms do not share this reduced risk of turnover. We find that the resource‐based theory is consistent with the turnover experience of Asian and Hispanic ethnic minority CEOs, but that it is not useful for explaining Black CEO turnover. Some implications of our findings are the following: (1) In research, all minorities should not be treated as a single homogenous group, and (2) in practice, it may be useful to increase CEO social capital to lengthen tenure.
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