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Sarah E. Sheppard Laura Elizabeth Anderson Cathryn Sibbald Colleen Cotton Elizabeth Bhoj Marissa J. Perman Leslie Castelo‐Soccio 《Pediatric dermatology》2019,36(6):1007-1009
Epidermolysis bullosa simplex (EBS) is a skin fragility disorder resulting from mutations of structural proteins in the epidermis. We provide a brief report of long‐term survival and reproduction in a mother with EBS due to keratin 5 (KRT5) c.1429G > A (p.E477K) mutation, which causes a particularly severe form of the disease. 相似文献
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Joseph M. Northey Kate L. Pumpa Clare Quinlan Ashley Ikin Kellie Toohey Disa J. Smee Ben Rattray 《Journal of Science and Medicine in Sport》2019,22(5):580-585
Objectives
The current study investigated the effects of two exercise interventions on cognitive function amongst breast cancer survivors.Design
Pilot randomised-controlled trial.Methods
Seventeen female cancer survivors (mean: 62.9 ± 7.8 years) were randomised into three groups: high-intensity interval training (HIIT, n = 6); moderate-intensity continuous training (MOD, n = 5); or wait-list control (CON, n = 6). The HIIT and MOD groups exercised on a cycle ergometer 3 days/week for 12-weeks. Primary outcomes were cognitive function assessments utilising CogState. Secondary outcomes were resting middle cerebral artery blood flow velocity, cerebrovascular reactivity and aerobic fitness (VO2peak). Data were analysed with General Linear Mixed Models and Cohen’s d effect sizes were calculated.Results
All 17 participants who were randomised were available for follow-up analysis and adherence was similar for HIIT and MOD (78.7 ± 13.2% vs 79.4 ± 12.0%; p = 0.93). Although there were no significant differences in the cognitive and cerebrovascular outcomes, HIIT produced moderate to large positive effects in comparison to MOD and CON for outcomes including episodic memory, working memory, executive function, cerebral blood flow and cerebrovascular reactivity. HIIT significantly increased VO2peak by 19.3% (d = 1.28) and MOD had a non-significant 5.6% (d = 0.72) increase, compared to CON which had a 2.6% decrease.Conclusions
This study provides preliminary evidence that HIIT may be an effective exercise intervention to improve cognitive performance, cerebrovascular function and aerobic fitness in breast cancer survivors. Considering the sample size is small, these results should be confirmed through larger clinical trials. 相似文献5.
Interaction effects between the 5‐hydroxy tryptamine transporter‐linked polymorphic region (5‐HTTLPR) genotype and family conflict on adolescent alcohol use and misuse
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Joseph D. Westaby Susanna T. E. Cooper Khari A. Edwards Robert H. Anderson Mary N. Sheppard 《Clinical anatomy (New York, N.Y.)》2020,33(3):394-404
Congenital heart disease is a rare but important finding in adults who experience sudden death. Examination of the congenitally malformed heart has historically been considered esoteric and best left to those with expertise. The Cardiac Risk in the Young cardiovascular pathology laboratory based at St George's University of London has now received over 6,000 cases. Of these, 21 congenitally malformed hearts were retained for research and educational purposes. Hearts were assessed using sequential segmental analysis, and causes of death were adjudicated based on thorough macroscopic examination and histology. Congenital malformations that were encountered included atrial septal defects, ventricular septal defects, tetralogy of Fallot, and transposition of the great arteries in both its regular and congenitally corrected variants. Findings also included hearts with mirror-imaged and isomeric atrial appendages. Direct causes of death included myocardial fibrosis, pulmonary hypertension, and hemorrhage. A small but notable proportion did not reveal a substrate for arrhythmia, raising the question of whether the terminal event was due to the congenital heart disease itself, or an underlying channelopathy. Here, we demonstrate the value of simple sequential segmental analysis in describing and categorizing the cases, with the concept of the “morphological method” serving to identify the distinguishing features of the cardiac components. Clin. Anat. 33:394–404, 2020. © 2019 Wiley Periodicals, Inc. 相似文献
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Kate Ridley Tim S Olds Alison Hill 《The international journal of behavioral nutrition and physical activity》2006,3(1):10-11
Background
Self-report recall questionnaires are commonly used to measure physical activity, energy expenditure and time use in children and adolescents. However, self-report questionnaires show low to moderate validity, mainly due to inaccuracies in recalling activity in terms of duration and intensity. Aside from recall errors, inaccuracies in estimating energy expenditure from self-report questionnaires are compounded by a lack of data on the energy cost of everyday activities in children and adolescents. This article describes the development of the Multimedia Activity Recall for Children and Adolescents (MARCA), a computer-delivered use-of-time instrument designed to address both the limitations of self-report recall questionnaires in children, and the lack of energy cost data in children. 相似文献10.
Mary C. Gawlicki MBA Margaret C. Reilly MPH Ana Popielnicki BA Kate Reilly MA 《Value in health》2006,9(3):199-204
INTRODUCTION: There are no measures of health-related absenteeism and presenteeism validated for use in the large and increasing US Spanish-speaking population. Before using a Spanish translation of an available English-language questionnaire, the linguistic validity of the Spanish version must be established to ensure its conceptual equivalence to the original and its cultural appropriateness. OBJECTIVE: The objective of this study was to evaluate the linguistic validity of the US Spanish version of the Work Productivity and Activity Impairment questionnaire, General Health Version (WPAI:GH). METHODS: A US Spanish translation of the US English WPAI:GH was created through a reiterative process of creating harmonized forward and back translations by independent translators. Spanish-speaking and English-speaking subjects residing in the US self-administered the WPAI:GH in their primary language and were subsequently debriefed by a bilingual (Spanish-English) interviewer. RESULTS: US Spanish subjects (N = 31) and English subjects (N = 35), stratified equally by educational level, with and without a high school degree participated in the study. The WPAI-GH item comprehension rate was 98.6% for Spanish and 99.6% for English. Response revision rates during debriefing were 1.6% for Spanish and 0.5% for English. Responses to hypothetical scenarios indicated that both language versions adequately differentiate sick time taken for health and non-health reasons and between absenteeism and presenteeism. CONCLUSION: Linguistic validity of the US Spanish translation of the WPAI:GH was established among a diverse US Spanish-speaking population, including those with minimal education. 相似文献