A Chromosomal Deletion and New Frameshift Mutation Cause ARSACS in an African-American

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is a rare, progressive, neurodegenerative disease characterized by ataxia, spasticity and polyneuropathy. First described in the French-Canadian population of Quebec in 1978, ARSACS has since been identified in multiple patients worldwide. In this clinical case report, we describe the evaluation of an 11-years-old African-American male who presented to neuromuscular clinic for assessment of a gait abnormality. He had a history of gross motor delay since early childhood, frequent falls and a below average IQ. Chromosomal microarray revealed a 1.422 megabase loss in the 13q12.12 region, which includes the SACS gene. Next Generation Sequencing then showed a novel, predicted to be pathogenic missense mutation (c.11824dup) of this gene. His clinical presentation and neurological imaging further confirmed the diagnosis of ARSACS. To our knowledge, this is the first reported case of this disease in the African-American population of the United States. This case report further highlights the growing trend of identifying genetic diseases previously restricted to single, ethnically isolated regions in many different ethnic groups worldwide

Ultrasonic locating devices for central venous cannulation: meta-analysis

OBJECTIVES: To assess the evidence for the clinical effectiveness of ultrasound guided central venous cannulation. DATA SOURCES: 15 electronic bibliographic databases, covering biomedical, science, social science, health economics, and grey literature. DESIGN: Systematic review and meta-analysis of randomised controlled trials. POPULATIONS: Patients scheduled for central venous access. INTERVENTION REVIEWED: Guidance using real time two dimensional ultrasonography or Doppler needles and probes compared with the anatomical landmark method of cannulation. DATA EXTRACTION: Risk of failed catheter placement (primary outcome), risk of complications from placement, risk of failure on first attempt at placement, number of attempts to successful catheterisation, and time (seconds) to successful catheterisation. DATA SYNTHESIS: 18 trials (1646 participants) were identified. Compared with the landmark method, real time two dimensional ultrasound guidance for cannulating the internal jugular vein in adults was associated with a significantly lower failure rate both overall (relative risk 0.14, 95% confidence interval 0.06 to 0.33) and on the first attempt (0.59, 0.39 to 0.88). Limited evidence favoured two dimensional ultrasound guidance for subclavian vein and femoral vein procedures in adults (0.14, 0.04 to 0.57 and 0.29, 0.07 to 1.21, respectively). Three studies in infants confirmed a higher success rate with two dimensional ultrasonography for internal jugular procedures (0.15, 0.03 to 0.64). Doppler guided cannulation of the internal jugular vein in adults was more successful than the landmark method (0.39, 0.17 to 0.92), but the landmark method was more successful for subclavian vein procedures (1.48, 1.03 to 2.14). No significant difference was found between these techniques for cannulation of the internal jugular vein in infants. An indirect comparison of relative risks suggested that two dimensional ultrasonography would be more successful than Doppler guidance for subclavian vein procedures in adults (0.09, 0.02 to 0.38). CONCLUSIONS: Evidence supports the use of two dimensional ultrasonography for central venous cannulation

Conclusion: back to the future

Modern and Contemporary Studie

A critical evaluation of the roles and responsibilities of the Physical Education teacher – perspectives of a student training to teach P.E. in primary schools

Abstract This paper presents a discussion about some of the roles and responsibilities associated with being a Physical Education (P E ) teacher as they are perceived by an undergraduate trainee teacher at Hope University The paper will examine critically what are considered to be some of the key roles and responsibilities for the P E teacher, with an aim to developing a deeper understanding of how these roles and responsibilities may contribute to sound pedagogical practice in the school settin

Prediction of whole-body fat percentage and visceral adipose tissue mass from five anthropometric variables

Background The conventional measurement of obesity utilises the body mass index (BMI) criterion. Although there are benefits to this method, there is concern that not all individuals at risk of obesity-associated medical conditions are being identified. Whole-body fat percentage (%FM), and specifically visceral adipose tissue (VAT) mass, are correlated with and potentially implicated in disease trajectories, but are not fully accounted for through BMI evaluation. The aims of this study were (a) to compare five anthropometric predictors of %FM and VAT mass, and (b) to explore new cut-points for the best of these predictors to improve the characterisation of obesity. Methods BMI, waist circumference (WC), waist-to-hip ratio (WHR), waist-to-height ratio (WHtR) and waist/height0.5 (WHT.5R) were measured and calculated for 81 adults (40 women, 41 men; mean (SD) age: 38.4 (17.5) years; 94% Caucasian). Total body dual energy X-ray absorptiometry with Corescan (GE Lunar iDXA, Encore version 15.0) was also performed to quantify %FM and VAT mass. Linear regression analysis, stratified by sex, was applied to predict both %FM and VAT mass for each anthropometric variable. Within each sex, we used information theoretic methods (Akaike Information Criterion; AIC) to compare models. For the best anthropometric predictor, we derived tentative cut-points for classifying individuals as obese (>25% FM for men or >35% FM for women, or > highest tertile for VAT mass). Results The best predictor of both %FM and VAT mass in men and women was WHtR. Derived cut-points for predicting whole body obesity were 0.53 in men and 0.54 in women. The cut-point for predicting visceral obesity was 0.59 in both sexes. Conclusions In the absence of more objective measures of central obesity and adiposity, WHtR is a suitable proxy measure in both women and men. The proposed DXA-%FM and VAT mass cut-offs require validation in larger studies, but offer potential for improvement of obesity characterisation and the identification of individuals who would most benefit from therapeutic intervention

Crystal Distortion and the Two-Channel Kondo Effect

We study a simple model of the two-channel Kondo effect in a distorted crystal. This model is then used to investigate the interplay of the Kondo and Jahn-Teller effects, and also the Kondo effect in an impure crystal. We find that the Jahn-Teller interaction modifies the characteristic energy scale of the system below which non-Fermi-liquid properties of the model become apparent. The modified energy scale tends to zero as the limit of a purely static Jahn-Teller effect is approached. We find also that the non-Fermi-liquid properties of the quadrupolar Kondo effect are not stable against crystal distortion caused by impurities.Comment: 11 page