3 research outputs found

    Limited Association Between Perceived Control and Health-Related Quality of Life in Patients with Heart Failure

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    Background: Perceived control has been suggested as a modifiable factor associated with health-related quality of life (HRQOL). However, the relationship between perceived control and HRQOL has not been evaluated in patients with heart failure (HF). The purpose of this study was to determine whether perceived control independently predicts HRQOL in HF patients. Methods: A total of 423 HF patients were included. Hierarchical linear regression was performed to determine the independent association of perceived control to HRQOL after controlling for covariates. Results: Higher levels of perceived control were associated with better HRQOL in univariate analysis. However, this relationship was strongly attenuated after controlling for relevant demographic, clinical, and psychological factors; the variance in HRQOL explained by the addition of perceived control to this model was small (1.4%). Conclusions: We found only a weak relationship between perceived control and HRQOL when considered in the presence of demographic, clinical, and psychological factors

    Ancestral Variations of the PCDHG Gene Cluster Predispose to Dyslexia in a Multiplex Family

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    Dyslexia is a heritable neurodevelopmental disorder characterized by difficulties in reading and writing. In this study, we describe the identification of a set of 17 polymorphisms located across 1.9 Mb region on chromosome 5q31.3, encompassing genes of the PCDHG cluster, TAF7, PCDH1 and ARHGAP26, dominantly inherited with dyslexia in a multi-incident family. Strikingly, the non-risk form of seven variations of the PCDHG cluster, are preponderant in the human lineage, while risk alleles are ancestral and conserved across Neanderthals to non-human primates. Four of these seven ancestral variations (c.460A > C [p.Ile154Leu], c.541G > A [p.Ala181Thr], c.2036G > C [p.Arg679Pro] and c.2059A > G [p.Lys687Glu]) result in amino acid alterations. p.Ile154Leu and p.Ala181Thr are present at EC2: EC3 interacting interface of γA3-PCDH and γA4-PCDH respectively might affect trans-homophilic interaction and hence neuronal connectivity. p.Arg679Pro and p.Lys687Glu are present within the linker region connecting trans-membrane to extracellular domain. Sequence analysis indicated the importance of p.Ile154, p.Arg679 and p.Lys687 in maintaining class specificity. Thus the observed association of PCDHG genes encoding neural adhesion proteins reinforces the hypothesis of aberrant neuronal connectivity in the pathophysiology of dyslexia. Additionally, the striking conservation of the identified variants indicates a role of PCDHG in the evolution of highly specialized cognitive skills critical to reading
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