Medical, subjective and objective forms of exercise dependence and the role of learning, cognitive and emotional biases.

Despite numerous benefits of regular exercise, research has demonstrated some people develop problematic exercise behaviour, with ongoing debates regarding the definition. This study defined three approaches: a traditional medical model including for example withdrawal symptoms; a subjective approach whereby individuals identify their own problematic exercise; and an objective perspective involving persistent exercise despite negative consequences. This cross-sectional study assessed the association between these three approaches in UK-based frequent exercisers ( = 139) alongside correlations with learning, cognitive and emotional biases (reward vs punishment sensitivity, delay discounting and sensation seeking).

Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model.

Background: Variants in genes encoding nuclear pore complex (NPC) proteins are a newly identified cause of paediatric steroid-resistant nephrotic syndrome (SRNS). Recent reports describing NUP93 variants suggest these could be a significant cause of paediatric onset SRNS. We report NUP93 cases in the UK and demonstrate in vivo functional effects of Nup93 depletion in a fly (Drosophila melanogaster) nephrocyte model.

In search for the most optimal EEG method: A practical evaluation of a water-based electrode EEG system.

The study assessed a mobile electroencephalography system with water-based electrodes for its applicability in cognitive and behavioural neuroscience. It was compared to a standard gel-based wired system. Electroencephalography was recorded on two occasions (first with gel-based, then water-based system) as participants completed the flanker task.

Long-read nanopore sequencing resolves a TMEM231 gene conversion event causing Meckel-Gruber syndrome.

The diagnostic deployment of massively parallel short-read next-generation sequencing (NGS) has greatly improved genetic test availability, speed, and diagnostic yield, particularly for rare inherited disorders. Nonetheless, diagnostic approaches based on short-read sequencing have a poor ability to accurately detect gene conversion events. We report on the genetic analysis of a family in which 3 fetuses had clinical features consistent with the autosomal recessive disorder Meckel-Gruber syndrome (MKS).

Affective responses to coherence in high and low risk scenarios.

Presenting information in a coherent fashion has been shown to increase processing fluency, which in turn influences affective responses. The pattern of responses have been explained by two apparently competing accounts: hedonic marking (response to fluency is positive) and fluency amplification (response to fluency can be positive or negative, depending on stimuli valence). This paper proposes that these accounts are not competing explanations, but separate mechanisms, serving different purposes.

Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations.

Background: There are many single-gene causes of steroid-resistant nephrotic syndrome (SRNS) and the list continues to grow rapidly. Prompt comprehensive diagnostic testing is key to realising the clinical benefits of a genetic diagnosis. This report describes a bespoke-designed, targeted next-generation sequencing (NGS) diagnostic gene panel assay to detect variants in 37 genes including the ability to identify copy number variants (CNVs).

Mutations Cause Congenital Nephrotic Syndrome.

Steroid-resistant nephrotic syndrome (SRNS), a heterogeneous disorder of the renal glomerular filtration barrier, results in impairment of glomerular permselectivity. Inheritance of genetic SRNS may be autosomal dominant or recessive, with a subset of autosomal recessive SRNS presenting as congenital nephrotic syndrome (CNS). Mutations in 53 genes are associated with human SRNS, but these mutations explain ≤30% of patients with hereditary cases and only 20% of patients with sporadic cases.

Long-term structural changes after mTBI and their relation to post-concussion symptoms.

Primary Objective: To investigate sustained structural changes in the long-term (>1 year) after mild traumatic brain injury (mTBI) and their relationship to ongoing post-concussion syndrome (PCS).

Research Design: Morphological and structural connectivity magnetic resonance imaging (MRI) data were acquired from 16 participants with mTBI and nine participants without previous head injury.

Main Outcomes And Results: Participants with mTBI had less prefrontal grey matter and lower fractional anisotropy (FA) in the anterior corona radiata and internal capsule.

Multimodal imaging of mild traumatic brain injury and persistent postconcussion syndrome.

Background: Persistent postconcussion syndrome (PCS) occurs in around 5-10% of individuals after mild traumatic brain injury (mTBI), but research into the underlying biology of these ongoing symptoms is limited and inconsistent. One reason for this could be the heterogeneity inherent to mTBI, with individualized injury mechanisms and psychological factors. A multimodal imaging study may be able to characterize the injury better.

CI Therapy is Beneficial to Patients with Chronic Low-Functioning Hemiparesis after Stroke.

CI therapy is effective in patients with relatively good levels of residual arm function but its applicability to patients with low-functioning hemiparesis is not entirely clear. In the present study, we examined the feasibility and efficacy of the CI therapy concept in patients with very limited upper arm function prior to treatment, and further tested how the length of daily shaping training and constraining the good arm affects treatment outcome. In a baseline-controlled design, 65 chronic patients were treated with 2 weeks of modified CI therapy.

Quantitative electroencephalography and behavioural correlates of daytime sleepiness in chronic stroke.

Sleepiness is common after stroke, but in contrast to its importance for rehabilitation, existing studies focus primarily on the acute state and often use subjective sleepiness measures only. We used quantitative electroencephalography (qEEG) to extract physiological sleepiness, as well as subjective reports, in response to motor-cognitive demand in stroke patients and controls. We hypothesised that (a) slowing of the EEG is chronically sustained after stroke; (b) increased power in lower frequencies and increased sleepiness are associated; and (c) sleepiness is modulated by motor-cognitive demand.

Cortical thickness changes in the non-lesioned hemisphere associated with non-paretic arm immobilization in modified CI therapy.

Recent evidence suggests that immobilization of the upper limb for 2-3 weeks induces changes in cortical thickness as well as motor performance. In constraint induced (CI) therapy, one of the most effective interventions for hemiplegia, the non-paretic arm is constrained to enforce the use of the paretic arm in the home setting. With the present study we aimed to explore whether non-paretic arm immobilization in CI therapy induces structural changes in the non-lesioned hemisphere, and how these changes are related to treatment benefit.

Consumption of glucose drinks slows sensorimotor processing: double-blind placebo-controlled studies with the Eriksen flanker task.

Modulations of blood glucose concentration (BGC) in the normal range are known to facilitate performance in memory and other cognitive tasks but few studies have investigated the effects of BGC variations on complex sensorimotor task so far. The present study aimed to examine glucose effects with the Eriksen flanker task. This task was chosen because it can dissociate between the effects of BGC on sensorimotor processing and cognitive control by assessing congruency effects.

Monitoring long-term effects of mild traumatic brain injury with magnetic resonance spectroscopy: a pilot study.

This pilot study explores the metabolic changes associated with persistent postconcussion syndrome (PCS) after mild traumatic brain injury (mTBI; >12 months after injury) using magnetic resonance spectroscopy. We hypothesized that those mTBI participants with PCS will have larger metabolic differences than those without. Data were collected from mTBI participants with PCS, mTBI participants without PCS and non-head-injured participants (all groups: n=8).

Long-term effects of mild traumatic brain injury on cognitive performance.

Although a proportion of individuals report chronic cognitive difficulties after mild traumatic brain injury (mTBI), results from behavioral testing have been inconsistent. In fact, the variability inherent to the mTBI population may be masking subtle cognitive deficits. We hypothesized that this variability could be reduced by accounting for post-concussion syndrome (PCS) in the sample.

Motor planning in chronic upper-limb hemiparesis: evidence from movement-related potentials.

Background: Chronic hemiplegia is a common long-term consequence of stroke, and subsequent motor recovery is often incomplete. Neurophysiological studies have focused on motor execution deficits in relatively high functioning patients. Much less is known about the influence exerted by processes related to motor preparation, particularly in patients with poor motor recovery.

Post-concussion syndrome: prevalence after mild traumatic brain injury in comparison with a sample without head injury.

Primary Objective: To compare the prevalence of persistent post-concussion syndrome (PCS; >1 year post-injury) in participants with mild traumatic brain injury (mTBI) and those without head injury.

Research Design: A cross-sectional sample of 119 participants with mTBI and 246 without previous head injury.

Methods: Online questionnaires collected data about post-concussion symptoms, cognitive failures, anxiety, depression, sleep behaviour and post-traumatic stress disorder.

Task complexity differentially affects executed and imagined movement preparation: evidence from movement-related potentials.

Background: The neural simulation theory predicts similarity for the neural mechanisms subserving overt (motor execution) and covert (movement imagination) actions. Here we tested this prediction for movement preparation, a key characteristic of motor cognition.

Methodology/principal Findings: High-density electroencephalogram (EEG) was recorded during covert and overt actions.

A novel ATM-dependent X-ray-inducible gene is essential for both plant meiosis and gametogenesis.

DNA damage in Arabidopsis thaliana seedlings results in upregulation of hundreds of genes. One of the earliest and highest levels of induction is displayed by a previously uncharacterized gene that we have termed X-ray induced 1 (XRI1). Analysis of plants carrying a null xri1 allele revealed two distinct requirements for this gene in plant fertility.

Neural correlates of movement preparation in healthy ageing.

Motor disorders increase dramatically with age; however, little is known about non-clinical ageing of motor control mechanisms and their respective neural correlates. With the present experiment we aimed to study age effects on advance movement preparation, a key characteristic of motor behaviour that is known to involve premotor and primary motor circuits. The respective brain regions are subject to age-related brain atrophy of grey and white matter, and we therefore hypothesized that motor preparation mechanisms may be altered in older persons.

NBS1 is involved in DNA repair and plays a synergistic role with ATM in mediating meiotic homologous recombination in plants.

The ability of plants to repair DNA double-strand breaks (DSBs) is essential for growth and fertility. The Arabidopsis DSB repair proteins AtRAD50 and AtMRE11 form part of an evolutionarily conserved complex that, in Saccharomyces cerevisiae and mammals, includes a third component termed XRS2 and NBS1, respectively. The MRN complex (MRX in yeast) has a direct role in DSB repair and is also required for DNA damage signaling and checkpoint activation in a pathway mediated by the protein kinase ATM.