'Clinical Triad' findings in Klippel-feil patients

E-Poster - Congenital Deformity: no. 530It has been propagated that Klippel-Feil Syndrome (KFS) is associated with the clinical triad findings (CTF) of short neck, low posterior hairline, and limited range of motion. This study noted that CTFs are not consistently noted in KFS patients. KFS patients with extensive congenitally fused cervical segments were more likely to exhibit one of the components of CTF.postprin

Validity and reliability of the session RPE method for monitoring exercise training intensity

Objective. The Session Rating of Perceived Extertion (RPE) is a method of measuring exercise intensity that may be useful for the quantitative assessment of exercise training programmes. However, there are inadequate data regarding the validity and reliability of the Session RPE method. This study was designed to evaluate both the validity and reliability of the Session RPE method in comparison to objective measures (%HRpeak, %HRreserve and %VO2peak) of exercise intensity. Methods. Fourteen healthy volunteers (7 male, 7 female) performed 6 randomly ordered 30-minute constant-load exercise bouts at 3 different intensities, with each intensity being repeated. Oxygen consumption (VO2) and heart rate (HR) were measured throughout each exercise bout and normalised to maximal values obtained during a preliminary maximal exercise test. Thirty minutes following the conclusion of each exercise bout, the subject rated the global intensity of the bout using a modification of the Category Ratio (CR) (0 - 10) RPE scale. This rating was compared to the mean value of objectively measured exercise intensity across the duration of the bout. Results. There were significant non-linear relationships between Session RPE and %VO2peak (R2 = 0.76), %HRpeak (R2 = 0.74) and %HRreserve (R2 = 0.71). There were no significant differences between test and retest values of %VO2peak, %HRpeak, %HRreserve and Session RPE during the easy (47 v. 47%, 65 v. 66%, 47 v. 48% and 2.0 v. 1.9), moderate (69 v. 70%, 83 v. 84%, 74 v. 75%, and 4.2 v. 4.3) and hard (81 v. 81%, 94 v. 94%, 91 v. 91% and 7.3 v. 7.4) exercise bouts. Correlations between repeated bouts for %VO2peak (r = 0.98), %HRpeak (r = 0.98), %HRreserve (r = 0.98) and Session RPE (r = 0.88) were significant and strong. Conclusions. The results support the validity and reliability of the Session RPE method of monitoring exercise intensity, although as might be predicted for a subjective method the Session RPE was less precise than the objective measures of exercise training intensity. South African Journal of Sports Medicine Vol. 18 (1) 2006: pp. 14-1

Bounded Model Checking for Probabilistic Programs

In this paper we investigate the applicability of standard model checking approaches to verifying properties in probabilistic programming. As the operational model for a standard probabilistic program is a potentially infinite parametric Markov decision process, no direct adaption of existing techniques is possible. Therefore, we propose an on-the-fly approach where the operational model is successively created and verified via a step-wise execution of the program. This approach enables to take key features of many probabilistic programs into account: nondeterminism and conditioning. We discuss the restrictions and demonstrate the scalability on several benchmarks

Validity and reliability of the session RPE method for monitoring exercise training intensity

Objective. The Session Rating of Perceived Extertion (RPE) is a method of measuring exercise intensity that may be useful for the quantitative assessment of exercise training programmes. However, there are inadequate data regarding the validity and reliability of the Session RPE method. This study was designed to evaluate both the validity and reliability of the Session RPE method in comparison to objective measures (%HRpeak, %HRreserve and %VO2peak) of exercise intensity. Methods. Fourteen healthy volunteers (7 male, 7 female) performed 6 randomly ordered 30-minute constant-load exercise bouts at 3 different intensities, with each intensity being repeated. Oxygen consumption (VO2) and heart rate (HR) were measured throughout each exercise bout and normalised to maximal values obtained during a preliminary maximal exercise test. Thirty minutes following the conclusion of each exercise bout, the subject rated the global intensity of the bout using a modification of the Category Ratio (CR) (0 - 10) RPE scale. This rating was compared to the mean value of objectively measured exercise intensity across the duration of the bout. Results. There were significant non-linear relationships between Session RPE and %VO2peak (R2 = 0.76), %HRpeak (R2 = 0.74) and %HRreserve (R2 = 0.71). There were no significant differences between test and retest values of %VO2peak, %HRpeak, %HRreserve and Session RPE during the easy (47 v. 47%, 65 v. 66%, 47 v. 48% and 2.0 v. 1.9), moderate (69 v. 70%, 83 v. 84%, 74 v. 75%, and 4.2 v. 4.3) and hard (81 v. 81%, 94 v. 94%, 91 v. 91% and 7.3 v. 7.4) exercise bouts. Correlations between repeated bouts for %VO2peak (r = 0.98), %HRpeak (r = 0.98), %HRreserve (r = 0.98) and Session RPE (r = 0.88) were significant and strong. Conclusions. The results support the validity and reliability of the Session RPE method of monitoring exercise intensity, although as might be predicted for a subjective method the Session RPE was less precise than the objective measures of exercise training intensity. South African Journal of Sports Medicine Vol. 18 (1) 2006: pp. 14-1

Reductions in cardiovascular, cerebrovascular, and respiratory mortality following the national Irish smoking ban: Interrupted time-series analysis

Copyright @ 2013 Stallings-Smith et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.This article has been made available through the Brunel Open Access Publishing Fund.Background: Previous studies have shown decreases in cardiovascular mortality following the implementation of comprehensive smoking bans. It is not known whether cerebrovascular or respiratory mortality decreases post-ban. On March 29, 2004, the Republic of Ireland became the first country in the world to implement a national workplace smoking ban. The aim of this study was to assess the effect of this policy on all-cause and cause-specific, non-trauma mortality. Methods: A time-series epidemiologic assessment was conducted, utilizing Poisson regression to examine weekly age and gender-standardized rates for 215,878 non-trauma deaths in the Irish population, ages ≥35 years. The study period was from January 1, 2000, to December 31, 2007, with a post-ban follow-up of 3.75 years. All models were adjusted for time trend, season, influenza, and smoking prevalence. Results: Following ban implementation, an immediate 13% decrease in all-cause mortality (RR: 0.87; 95% CI: 0.76-0.99), a 26% reduction in ischemic heart disease (IHD) (RR: 0.74; 95% CI: 0.63-0.88), a 32% reduction in stroke (RR: 0.68; 95% CI: 0.54-0.85), and a 38% reduction in chronic obstructive pulmonary disease (COPD) (RR: 0.62; 95% CI: 0.46-0.83) mortality was observed. Post-ban reductions in IHD, stroke, and COPD mortalities were seen in ages ≥65 years, but not in ages 35-64 years. COPD mortality reductions were found only in females (RR: 0.47; 95% CI: 0.32-0.70). Post-ban annual trend reductions were not detected for any smoking-related causes of death. Unadjusted estimates indicate that 3,726 (95% CI: 2,305-4,629) smoking-related deaths were likely prevented post-ban. Mortality decreases were primarily due to reductions in passive smoking. Conclusions: The national Irish smoking ban was associated with immediate reductions in early mortality. Importantly, post-ban risk differences did not change with a longer follow-up period. This study corroborates previous evidence for cardiovascular causes, and is the first to demonstrate reductions in cerebrovascular and respiratory causes

Hypermethylation of CpG islands in the mouse asparagine synthetase gene: relationship to asparaginase sensitivity in lymphoma cells. Partial methylation in normal cells

We have sequenced the promoter region of the murine asparagine synthetase gene and examined its methylation profile in the CpG islands of L-asparaginase-sensitive 6C3HED cells (asparagine auxotrophs) and resistant variants (prototrophs). In the former, complete methylation of the CpG island is correlated with failure of expression of mRNA: cells of the latter possess both methylated and unmethylated alleles, as do cells of the intrinsically asparagine-independent lines L1210 and EL4. A similar phenomenon was seen in normal splenic cells of adult mice. This was age related: no methylation was found in weanlings, but up to 45% of gene copies in animals 18 weeks or older were methylated. It was also tissue related, with methylation occurring rarely in liver cells. The relationship of these changes to oncogenesis is considered. http://www.bjcancer.com © 2001 Cancer Research Campaignhttp://www.bjcancer.co

Impact of Scotland’s comprehensive, smoke-free legislation on stroke

<p>Background: Previous studies have reported a reduction in acute coronary events following smoke-free legislation. Evidence is lacking on whether stroke is also reduced. The aim was to determine whether the incidence of stroke, overalland by sub-type, fell following introduction of smoke-free legislation across Scotland on 26 March 2006.</p> <p>Methods and Findings: A negative binomial regression model was used to determine whether the introduction of smokefree legislation resulted in a step and/or slope change in stroke incidence. The model was adjusted for age-group, sex, socioeconomic deprivation quintile, urban/rural residence and month. Interaction tests were also performed. Routine hospital administrative data and death certificates were used to identify all hospital admissions and pre-hospital deaths due to stroke (ICD10 codes I61, I63 and I64) in Scotland between 2000 and 2010 inclusive. Prior to the legislation, rates of all stroke, intracerebral haemorrhage and unspecified stroke were decreasing, whilst cerebral infarction was increasing at 0.97% per annum. Following the legislation, there was a dramatic fall in cerebral infarctions that persisted for around 20 months. No visible effect was observed for other types of stroke. The model confirmed an 8.90% (95% CI 4.85, 12.77, p,0.001) stepwise reduction in cerebral infarction at the time the legislation was implemented, after adjustment for potential cofounders.</p> <p>Conclusions: Following introduction of national, comprehensive smoke-free legislation there was a selective reduction in cerebral infarction that was not apparent in other types of stroke.</p&gt

Pharmacological screening using an FXN-EGFP cellular genomic reporter assay for the therapy of Friedreich ataxia

Copyright @ 2013 Li et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.Friedreich ataxia (FRDA) is an autosomal recessive disorder characterized by neurodegeneration and cardiomyopathy. The presence of a GAA trinucleotide repeat expansion in the first intron of the FXN gene results in the inhibition of gene expression and an insufficiency of the mitochondrial protein frataxin. There is a correlation between expansion length, the amount of residual frataxin and the severity of disease. As the coding sequence is unaltered, pharmacological up-regulation of FXN expression may restore frataxin to therapeutic levels. To facilitate screening of compounds that modulate FXN expression in a physiologically relevant manner, we established a cellular genomic reporter assay consisting of a stable human cell line containing an FXN-EGFP fusion construct, in which the EGFP gene is fused in-frame with the entire normal human FXN gene present on a BAC clone. The cell line was used to establish a fluorometric cellular assay for use in high throughput screening (HTS) procedures. A small chemical library containing FDA-approved compounds and natural extracts was screened and analyzed. Compound hits identified by HTS were further evaluated by flow cytometry in the cellular genomic reporter assay. The effects on FXN mRNA and frataxin protein levels were measured in lymphoblast and fibroblast cell lines derived from individuals with FRDA and in a humanized GAA repeat expansion mouse model of FRDA. Compounds that were established to increase FXN gene expression and frataxin levels included several anti-cancer agents, the iron-chelator deferiprone and the phytoalexin resveratrol.Muscular Dystrophy Association (USA), the National Health and Medical Research Council (Australia), the Friedreich’s Ataxia Research Alliance (USA), the Brockhoff Foundation (Australia), the Friedreich Ataxia Research Association (Australasia), Seek A Miracle (USA) and the Victorian Government’s Operational Infrastructure Support Program

Interactions between metabolic, reward and cognitive processes in appetite control:Implications for novel weight management therapies

Traditional models of appetite control have emphasised the role of parallel homeostatic and hedonic systems, but more recently the distinction between independent homeostatic and hedonic systems has been abandoned in favour of a framework that emphasises the cross talk between the neurochemical substrates of the two systems. In addition, evidence has emerged more recently, that higher level cognitive functions such as learning, memory and attention play an important role in everyday appetite control and that homeostatic signals also play a role in cognition. Here, we review this evidence and present a comprehensive model of the control of appetite that integrates cognitive, homeostatic and reward mechanisms. We discuss the implications of this model for understanding the factors that may contribute to disordered patterns of eating and suggest opportunities for developing more effective treatment approaches for eating disorders and weight management