13 research outputs found

    The most 5′ truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case report

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    Abstract Background WNT1 mutations cause bone fragility as well as brain anomalies. There are some reported cases of WNT1 mutations with normal cognition. Genotype and phenotype correlation of WNT1 mutations has not been established. Case presentation Here we present two female siblings with osteogenesis imperfecta (OI) born to a consanguineous couple. Both sustained severe bone deformities. However, only the younger had severe brain anomalies resulting in an early death from pneumonia, while the older had normal intellectual development. Next generation sequencing showed a homozygous mutation, c.6delG, p.Leu3Serfs*36 in WNT1. To our knowledge, it is the most 5′ truncating mutation to date. Conclusion This report emphasizes the intrafamilial variability of brain anomalies found in this OI type and suggests that WNT1 may not be necessary for normal human cognitive development

    Health utility weight of IEM patients.

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    <p>PKU = phenylketonuria; IVA = isovaleric acidemia; MMA = methylmalonic acidemia; PA = propionic acidemia; MSUD = maple syrup urine disease; MCD = multiple carboxylase deficiency</p><p>Health utility weight of IEM patients.</p

    Means and standard error (SE) of cost parameters presented in 2013 Thai Baht.

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    <p><sup>a</sup>Calculated at patient weight 1 kilogram.</p><p>NSCO = Neonatal Screening Operation Centre; PKU = phenylketonuria; IVA = isovaleric acidemia; MMA = methylmalonic acidemia; PA = propionic acidemia; MSUD = maple syrup urine disease; MCD = multiple carboxylase deficiency</p><p>1 I$ = 17.79 THB.</p

    Acceptability curve.

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    <p>The graph shows the probabilities of each strategy being cost-effective at a given ceiling ratio. The dashed lines represent the willingness to pay thresholds for the adoption of health interventions in Thailand.</p

    Mean and standard error (SE) of transitional probabilities used in the model.

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    <p><sup>a</sup> See <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0134782#pone.0134782.s001" target="_blank">S1 Table</a> for death from other causes.</p><p>PKU = phenylketonuria; IVA = isovaleric acidemia; MMA = methylmalonic acidemia; PA = propionic acidemia; MSUD = maple syrup urine disease; MCD = multiple carboxylase deficiency; RR = Relative risk of early-diagnosed patients compared with clinical diagnosed patients</p><p>Mean and standard error (SE) of transitional probabilities used in the model.</p

    Markov model.

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    <p>Health states transition of selected IEM. (A) represents PKU, IVA, MSUD and MCD; (B) represents MMA; and (C) represents PA. PKU = phenylketonuria; IVA = isovaleric acidemia; MMA = methylmalonic acidemia; PA = propionic acidemia; MSUD = maple syrup urine disease; MCD = multiple carboxylase deficiency.</p
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