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Abstract: Objectives: To describe the spectrum of movement disorders and cerebrospinal fluid (CSF) neurotransmitter profiles in paediatric patients with POLG disease. Methods: We identified children with genetically confirmed POLG disease, in whom CSF neurotransmitter analysis had been undertaken. Clinical data were collected retrospectively. CSF neurotransmitter levels were compared to both standardised age‐related reference ranges and to non‐POLG patients presenting with status epilepticus. Results: Forty‐one patients with POLG disease were identified. Almost 50% of the patients had documented evidence of a movement disorder, including non‐epileptic myoclonus, choreoathetosis and ataxia. CSF neurotransmitter analysis was undertaken in 15 cases and abnormalities were seen in the majority (87%) of cases tested. In many patients, distinctive patterns were evident, including raised neopterin, homovanillic acid and 5‐hydroxyindoleacetic acid levels. Conclusions: Children with POLG mutations can manifest with a wide spectrum of abnormal movements, which are often prominent features of the clinical syndrome. Underlying pathophysiology is probably multifactorial, and aberrant monoamine metabolism is likely to play a role. [ABSTRACT FROM AUTHOR]

Objective Patient-provider communication has been found to be less patient centred, on average, with patients who are members of stigmatized or minority groups. Obesity is a stigmatized condition, and thus, people with obesity may experience less patient-centred communication (PCC). The objective of this study was to assess the association between patient body mass index (BMI) and self-reported quality of PCC experienced over a 12-month period and whether that relationship differed for men and women. Methods Data collected for the National Cancer Institute's Health Information National Trends Survey were analysed. Respondents who reported a BMI = 18.5 kg/m2 and indicated having seen a healthcare provider outside of an emergency room in the last 12 months were included. PCC was measured using a validated six-item scale. Multivariate logistic regression was used to model the odds of reporting PCC greater than the sample median. Results Compared with people with normal weight BMIs, no associations were found between overweight (odds ratio [OR] = 0.84, p = 0.17), class I & II obesity (OR = 0.94, p = 0.68) or class III obesity (OR = 0.86, p = 0.47) and PCC. There was a significant interaction (p = 0.015) such that for men, but not women, higher BMI was associated with less PCC. Conclusion Unlike evidence that women experience more weight stigma, in the healthcare domain, men may be at elevated risk of experiencing communication influenced by weight stigma. [ABSTRACT FROM AUTHOR]

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LYNCH B.M., DUNSTAN D.W., WINKLER E., HEALY G.N., EAKIN E. & OWEN N. (2010) European Journal of Cancer Care Physical activity is well-established on the cancer survivorship research agenda, but prostate cancer survivors remain an understudied population. Additionally, the unique relationships between sedentary time and health outcomes have not yet been considered in this group. We examined the associations of accelerometer-assessed physical activity and sedentary time with waist circumference in 103 prostate cancer survivors from the National Health and Nutrition Examination Survey 2003-2004 and 2005-2006. Participants wore an Actigraph accelerometer for 7 days, and activity levels were summarised as moderate-to-vigorous intensity activity (accelerometer counts/minute ≥1952), light-intensity activity (counts/minute 100-1951) and sedentary time (counts/minute < 100). Moderate-to-vigorous intensity physical activity was inversely associated with waist circumference ( β=−6.728, 95% CI: −12.267, −1.190, P= 0.020), equating to a top versus bottom quartile difference of 13.7 cm. No discernable relationship existed between light-intensity activity or sedentary time and adiposity. This is the first study to objectively measure the activity levels of prostate cancer survivors. Increasing moderate-to-vigorous activity may assist this population with weight management. More research into the relationships of light-intensity physical activity and sedentary behaviour with health outcomes among prostate cancer survivors is warranted, given the strong relationships seen in the broader population. [ABSTRACT FROM AUTHOR]

BSTRACT: The effects of dietary supplementation with camelina oil on porcine plasma fatty acid composition and on serum cholesterol/triglyceride concentrations were investigated and compared with the effects of fish oil. The diets consisted of a control diet and diets supplemented with 5% camelina oil, 10% camelina oil and 5% fish oil. The camelina and fish-oil diets increased plasma ω3 fatty acids and reduced plasma ω6 fatty acids. Plasma eicosapentaenoic acid (C20:5ω3, EPA) was increased more by the fish oils diet than the camelina-oil diets. Serum triglyceride levels were reduced by the camelina-oil diets. [ABSTRACT FROM AUTHOR]

Pathogenic COL4A2 variants cause abnormalities in collagen production and can have serious implications for a range of organ systems, most notably the brain. Herein, we describe a large family of first‐degree relatives affected by a novel heterozygous variant in COL4A2 (c.3490G.A). A wide disease spectrum is described, from asymptomatic to symptomatic, including 2 children with porencephaly and co‐existing juvenile idiopathic polyarthritis. During a subsequent pregnancy, antenatal testing identified a positive fetus. In view of the literature, we review management and genetic counselling dilemmas. [ABSTRACT FROM AUTHOR]

Aim: Determine the frequency and predictors of sleep disorders in boys with Duchenne Muscular Dystrophy (DMD)., Method: Cross-sectional study by postal questionnaire. Sleep disturbances were assessed using the Sleep Disturbance Scale for Children (validated on 1157 healthy children). A total sleep score and six sleep disturbance factors representing the most common sleep disorders were computed. Potential associations between pathological scores and personal, medical and environmental factors were assessed., Results: Sixteen of 63 boys (25.4%) had a pathological total sleep score compared with 3% in the general population. The most prevalent sleep disorders were disorders of initiating and maintaining sleep (DIMS) 29.7%, sleep-related breathing disorders 15.6% and sleep hyperhydrosis 14.3%. On multivariate analysis, pathological total sleep scores were associated with the need to be moved by a carer (OR = 9.4; 95%CI: 2.2-40.7; p = 0.003) and being the child of a single-parent family (OR =7.2; 95%CI: 1.5-35.1; p = 0.015) and DIMS with the need to be moved by a carer (OR = 18.0; 95%CI: 2.9-110.6; p = 0.002), steroid treatment (OR = 7.7; 95%CI: 1.4-44.0; p = 0.021) and being the child of a single-parent family (OR = 7.0; 95%CI: 1.3-38.4; p = 0.025)., Conclusion: Sleep disturbances are frequent in boys with DMD and are strongly associated with immobility. Sleep should be systematically assessed in DMD to implement appropriate interventions., (© 2012 The Author(s)/Acta Paediatrica © 2012 Foundation Acta Paediatrica.)

This study was designed to elucidate the contribution of adenosine A(2A) and A(2B) receptors to coronary reactive hyperemia and downstream K(+) channels involved. Coronary blood flow was measured in open-chest anesthetized dogs. Adenosine dose-dependently increased coronary flow from 0.72 ± 0.1 to 2.6 ± 0.5 mL/minute/g under control conditions. Inhibition of A(2A) receptors with SCH58261 (1 μm) attenuated adenosine-induced dilation by ∼50%, while combined administration with the A(2B) receptor antagonist alloxazine (3 μm) produced no additional effect. SCH58261 significantly reduced reactive hyperemia in response to a transient 15 second occlusion; debt/repayment ratio decreased from 343 ± 63 to 232 ± 44%. Alloxazine alone attenuated adenosine-induced increases in coronary blood flow by ∼30% but failed to alter reactive hyperemia. A(2A) receptor agonist CGS21680 (10 μg bolus) increased coronary blood flow by 3.08 ± 0.31 mL/minute/g. This dilator response was attenuated to 0.76 ± 0.14 mL/minute/g by inhibition of K(V) channels with 4-aminopyridine (0.3mm) and to 0.11 ± 0.31 mL/minute/g by inhibition of K(ATP) channels with glibenclamide (3 mg/kg). Combined administration abolished vasodilation to CGS21680. These data indicate that A(2A) receptors contribute to coronary vasodilation in response to cardiac ischemia via activation of K(V) and K(ATP) channels., (© 2010 John Wiley & Sons Ltd.)

Context: The need to identify the best applicants for medicine and to ensure that selection is fair and ethical has led to the development of alternative, or additional, selection tools. One such tool is the United Kingdom Clinical Aptitude Test, or UKCAT. To date there have been no studies of the predictive validity of the UKCAT., Objectives: This study set out to identify whether UKCAT total score and subtest scores predict Year 1 outcomes in medical school., Methods: Year 1 students starting in 2007 at the University of Aberdeen or University of Dundee medical schools were included. Data collected were: UKCAT scores; Universities and Colleges Admissions Service (UCAS) form scores; admission interview scores; final Year 1 degree examination scores, and records of re-sitting examinations and of withdrawing from a course. Correlations were used to select variables for multiple regression analysis to predict examination scores., Results: Data were available for 341 students. Examination scores did not correlate with UKCAT total or subtest scores. Neither UCAS form score nor admission interview score predicted outcomes. None of the UKCAT scores were reliably associated with withdrawals (P-values for all comparisons > 0.05). Only the decision analysis subtest was associated with re-sits of examinations, but the difference in means was contrary to the direction anticipated (P = 0.025, 95% confidence interval = 6.1-89.7)., Discussion: UKCAT scores did not predict Year 1 performance at the two medical schools. Although early prediction is arguably not the primary aim of the UKCAT, there is some cause for concern that the test failed to show even the small-to-moderate predictive power demonstrated by similar admissions tools.

The DeBakey ventricular assist device (VAD) is a miniaturized, electromagnetically driven axial flow pump capable of generating in excess of 10 L/min output. The VAD was evaluated in 19 calves during experiments designed to test iterative modifications in the system and to determine the safety of the DeBakey VAD for intermediate to long-term implant. Five of the animals died or were euthanized during the perioperative period (i.e., Days 1-5) due to complications associated with bleeding (n = 3), sudden cardiac arrest (n = 1), or pump occlusion due to a muscle remnant associated with coring (n = 1). The remaining 14 animals survived from 7-145 days. Ten of the 14 animals survived 30 or more days, and 2 animals survived 93 and 145 days before elective euthanasia. Pump function was evaluated in the 14 calves that survived beyond the perioperative period. Pump output at implantation averaged 3 L/min while output at 100 days (n = 2) averaged 4.22 L/min. The electrical current did not change across time during the study, indicating normal operation of the bearings. Pumps consumed less than 10.5 W of power for all support durations. Hemolysis did not occur; the average daily plasma free hemoglobin varied from 2.0 to 8.0 mg/dl. Evaluation of serum biochemical data showed that implantation of the DeBakey VAD in calves with normal hearts did not impair end organ function; BUN, creatinine, and total bilirubin varied minimally within the normal range. The white blood cell count of implanted animals remained within the normal range throughout the study.