Examining non-syndromic autosomal recessive intellectual disability (NS-ARID) genes for an enriched association with intelligence differences

AbstractTwo themes are emerging regarding the molecular genetic aetiology of intelligence. The first is that intelligence is influenced by many variants and those that are tagged by common single nucleotide polymorphisms account for around 30% of the phenotypic variation. The second, in line with other polygenic traits such as height and schizophrenia, is that these variants are not randomly distributed across the genome but cluster in genes that work together. Less clear is whether the very low range of cognitive ability (intellectual disability) is simply one end of the normal distribution describing individual differences in cognitive ability across a population. Here, we examined 40 genes with a known association with non-syndromic autosomal recessive intellectual disability (NS-ARID) to determine if they are enriched for common variants associated with the normal range of intelligence differences. The current study used the 3511 individuals of the Cognitive Ageing Genetics in England and Scotland (CAGES) consortium. In addition, a text mining analysis was used to identify gene sets biologically related to the NS-ARID set. Gene-based tests indicated that genes implicated in NS-ARID were not significantly enriched for quantitative trait loci (QTL) associated with intelligence. These findings suggest that genes in which mutations can have a large and deleterious effect on intelligence are not associated with variation across the range of intelligence differences

Factors Associated with Revision Surgery after Internal Fixation of Hip Fractures

Background: Femoral neck fractures are associated with high rates of revision surgery after management with internal fixation. Using data from the Fixation using Alternative Implants for the Treatment of Hip fractures (FAITH) trial evaluating methods of internal fixation in patients with femoral neck fractures, we investigated associations between baseline and surgical factors and the need for revision surgery to promote healing, relieve pain, treat infection or improve function over 24 months postsurgery. Additionally, we investigated factors associated with (1) hardware removal and (2) implant exchange from cancellous screws (CS) or sliding hip screw (SHS) to total hip arthroplasty, hemiarthroplasty, or another internal fixation device. Methods: We identified 15 potential factors a priori that may be associated with revision surgery, 7 with hardware removal, and 14 with implant exchange. We used multivariable Cox proportional hazards analyses in our investigation. Results: Factors associated with increased risk of revision surgery included: female sex, [hazard ratio (HR) 1.79, 95% confidence interval (CI) 1.25-2.50; P = 0.001], higher body mass index (fo

The relationships between head, trunk and upper extremity rotations and hand motion in front crawl swimming

SIGLEAvailable from British Library Document Supply Centre-DSC:DXN040345 / BLDSC - British Library Document Supply CentreGBUnited Kingdo

The effect of simple insoles on three-dimensional foot motion during normal walking

Background. The purpose of this study was to establish the effect of simple non moulded flat based insoles on three-dimensional foot motion during normal walking. Excessive foot pronation is considered a major contributing factor to lower limb injuries. Moulded foot orthoses have been shown to decrease maximum foot eversion. Simple insoles are widely used in clinical practice as an alternative to moulded orthoses. However, there has been little research into the kinematic effects of simple insoles. Methods. All subjects had an inverted rearfoot and forefoot position when the subtalar joint was placed in neutral, which was assessed by a weight bearing goniometer. Rotations of the whole foot about three orthogonal axes relative to the shank were estimated using a five camera motion analysis system. Findings. Biplanar insoles significantly (P < 0.05) reduced maximum eversion by an average of 3.1° when compared to the no insole condition. The cobra insole reduced maximum eversion by an average of 2.1° when compared to the no insole condition. This difference approached statistical significance (P = 0.058). Interpretation. Biplanar and cobra insoles had no significant effect on maximum dorsiflexion, abduction or rate of eversion, when compared to the no insole condition. These results provide some limited support for the use of simple insoles to control for excessive foot pronation during walking. © 2004 Elsevier Ltd. All rights reserved