Mobile element insertion detection in 89,874 clinical exomes.

Purpose: Exome sequencing (ES) is increasingly used for the diagnosis of rare genetic disease. However, some pathogenic sequence variants within the exome go undetected due to the technical difficulty of identifying them. Mobile element insertions (MEIs) are a known cause of genetic disease in humans but have been historically difficult to detect via ES and similar targeted sequencing methods.

High yield primary microglial cultures using granulocyte macrophage-colony stimulating factor from embryonic murine cerebral cortical tissue.

Background: Microglia play vital roles in neurotrophic support and modulating immune or inflammatory responses to pathogens or damage/stressors during disease. This study describes the ability to establish large numbers of microglia from embryonic tissues with the addition of granulocyte-macrophage stimulating factor (GM-CSF) and characterizes their similarities to adult microglia examined ex vivo as well as their responses to inflammatory mediators.

Method: Microglia were seeded from a primary embryonic mixed cortical suspension with the addition of GM-CSF.

Oral administration of the nitroxide radical TEMPOL exhibits immunomodulatory and therapeutic properties in multiple sclerosis models.

Therapies with both immunomodulatory and neuroprotective properties are thought to have the greatest promise in reducing the severity and progression of multiple sclerosis (MS). Several reactive oxygen (ROS) and reactive nitrogen species (RNS) are implicated in inflammatory-mediated damage to the central nervous system (CNS) in MS and its animal model, experimental autoimmune encephalomyelitis (EAE). TEMPOL (4-hydroxy-2,2,6,6-tetramethylpiperidine-N-oxyl) is a stable nitroxide radical with potent antioxidant activity.

Breast cancer survivors' perspectives on a weight loss and physical activity lifestyle intervention.

Purpose: The purpose of this study is to qualitatively describe the experiences of breast cancer survivors who took part in a successful 24-week lifestyle intervention aimed at weight loss. The aim was to inform future study designs and lifestyle interventions.

Methods: Nine women who completed the lifestyle intervention took part in either a focus group or telephone interviews with trained facilitators who were not involved in the delivery of the intervention.

Reliability and validity of the Performance Recorder 1 for measuring isometric knee flexor and extensor strength.

Background: Muscular strength is a key parameter of rehabilitation programs and a strong predictor of functional capacity. Traditional methods to measure strength, such as manual muscle testing (MMT) and hand-held dynamometry (HHD), are limited by the strength and experience of the tester. The Performance Recorder 1 (PR1) is a strength assessment tool attached to resistance training equipment and may be a time- and cost-effective tool to measure strength in clinical practice that overcomes some limitations of MMT and HHD.

Attention to principles of exercise training: a review of exercise studies for survivors of cancers other than breast.

Objectives: Randomised controlled trials (RCTs) can evaluate how well a particular exercise programme reduces cancer treatment-related side effects. Adequate design and reporting of the exercise prescription employed in RCTs is central to interpreting study findings and translating effective interventions into practice. Our previous review on the quality and reporting of exercise prescriptions in RCTs in breast cancer survivors revealed several inadequacies.

Cardiorespiratory and neuromuscular deconditioning in fatigued and non-fatigued breast cancer survivors.

Purpose: Fatigue is one of the most commonly reported side effects during treatment for breast cancer and can persist following treatment completion. Cancer-related fatigue after treatment is multifactorial in nature, and one hypothesized mechanism is cardiorespiratory and neuromuscular deconditioning. The purpose of this study was to compare cardiorespiratory and neuromuscular function in breast cancer survivors who had completed treatment and met the specified criteria for cancer-related fatigue and a control group of breast cancer survivors without fatigue.

Review of exercise studies in breast cancer survivors: attention to principles of exercise training.

Objectives: Research supports the use of exercise to improve quality of life and reduce the side effects of breast cancer treatment, such as fatigue and decreased aerobic capacity. Previously published reviews have focused on reporting the outcomes of exercise interventions, but have not critically examined the exercise prescriptions. The purpose of this review is to evaluate the application of the principles of exercise training in the exercise prescriptions reported in intervention studies for breast cancer survivors.

Feasibility of a lifestyle intervention on body weight and serum biomarkers in breast cancer survivors with overweight and obesity.

Physical inactivity and being overweight or obese are lifestyle factors that put breast cancer survivors at a higher risk for a cancer recurrence and/or development of other chronic diseases. Despite this, there is limited research that has identified effective lifestyle interventions aimed specifically at weight loss in breast cancer survivors. This pilot study is a single-arm experimental pre-post test design, conducted from November 2009 to July 2010, that tested the efficacy of a 24-week group-based lifestyle intervention modeled on the Diabetes Prevention Program in early stage breast cancer survivors (N=14).

Whole-genome profiling of mutagenesis in Caenorhabditis elegans.

Deep sequencing offers an unprecedented view of an organism's genome. We describe the spectrum of mutations induced by three commonly used mutagens: ethyl methanesulfonate (EMS), N-ethyl-N-nitrosourea (ENU), and ultraviolet trimethylpsoralen (UV/TMP) in the nematode Caenorhabditis elegans. Our analysis confirms the strong GC to AT transition bias of EMS.

Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis.

Objectives: Our aim was to determine the frequency of genomic imbalances in neonates with birth defects by using targeted array-based comparative genomic hybridization, also known as chromosomal microarray analysis.

Methods: Between March 2006 and September 2007, 638 neonates with various birth defects were referred for chromosomal microarray analysis. Three consecutive chromosomal microarray analysis versions were used: bacterial artificial chromosome-based versions V5 and V6 and bacterial artificial chromosome emulated oligonucleotide-based version V6 Oligo.