54 resultados para SMITH-MAGENIS-SYNDROME

em Deakin Research Online - Australia


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Background and Aim:  Reduction of short-chain poorly absorbed carbohydrates (FODMAPs) in the diet reduces symptoms of irritable bowel syndrome (IBS). In the present study, we aimed to compare the patterns of breath hydrogen and methane and symptoms produced in response to diets that differed only in FODMAP content.
Methods:  Fifteen healthy subjects and 15 with IBS (Rome III criteria) undertook a single-blind, crossover intervention trial involving consuming provided diets that were either low (9 g/day) or high (50 g/day) in FODMAPs for 2 days. Food and gastrointestinal symptom diaries were kept and breath samples collected hourly over 14 h on day 2 of each diet.
Results:  Higher levels of breath hydrogen were produced over the entire day with the high FODMAP diet for healthy volunteers (181 ± 77 ppm.14 h vs 43 ± 18; mean ± SD P < 0.0001) and patients with IBS (242 ± 79 vs 62 ± 23; P < 0.0001), who had higher levels during each dietary period than the controls (P < 0.05). Breath methane, produced by 10 subjects within each group, was reduced with the high FODMAP intake in healthy subjects (47 ± 29 vs 109 ± 77; P = 0.043), but was not different in patients with IBS (126 ± 153 vs 86 ± 72). Gastrointestinal symptoms and lethargy were significantly induced by the high FODMAP diet in patients with IBS, while only increased flatus production was reported by healthy volunteers.
Conclusions:  Dietary FODMAPs induce prolonged hydrogen production in the intestine that is greater in IBS, influence the amount of methane produced, and induce gastrointestinal and systemic symptoms experienced by patients with IBS. The results offer mechanisms underlying the efficacy of the low FODMAP diet in IBS.

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The mammalian target of rapamycin (mTOR) pathway is the primary regulator of muscle protein synthesis. Metabolic syndrome (MetS) is characterized by central obesity and insulin resistance; little is known about how MetS affects the sensitivity of the mTOR pathway to feeding.

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 This study investigated whether IQ, language, theory of mind, emotion recognition, social skills and a behavioural marker of early neurodegeneration contributed to the externalising and internalising behaviour problems of children and adolescents with Down syndrome. Pragmatic language, social skills and neurodegeneration variables were significantly related to behaviour problems.

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As someone with Asperger's Syndrome, Wendy Lawson knows all about the social difficulties that accompany the condition. In this book, she guides others on the autism spectrum through the confusing map of life, tackling the building bricks of social existence one by one with humour, insight and practical suggestions. Exploring what it is like to be an adult in an alien world, she looks at the concepts of 'self' and 'other' and talks about the people in our lives -- how to relate to them, how we can use their support and how we can protect ourselves in the process. Using poetry and illustrations, she goes on to explain the difficult notion of putting on a face, looks at how to assess personal skills in order to develop them into a suitable career and how to deal with unwelcome changes in life. This book is essential reading for all those on the higher-functioning end of the autism spectrum, helping them to get the best out of a world that is often confusing and aiding those close to them to understand their perspective. Book jacket.

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The experience of urban settlement in the Western District of Victoria suggests that the pattern of growth and decline in small towns is tied to the pattern of land use. This, in turn, is determined by the economic and technological factors which influence farm management and practices. At times, these factors have encouraged urban development and small towns have flourished. For the most part, however, these forces have not been conducive to sustaining long-term growth and prosperity and small towns, have been trapped in a cycle of growth and decline.

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Working in the UK, Sadler-Smith, Down and Lean, in their article “‘Modern’ learning methods: rhetoric and reality”, Personnel Review, Vol. 29 No. 4, 2000, pp. 474-90, have shown that distance learning methods are neither favoured nor perceived as effective by enterprises pursuing training that yields a competitive edge. They have suggested that these methods need to be integrated with other more conventional on-job training methods. This paper, based on Australian research, shows a tension between the requirements of flexible training methods based on distance learning methods, and the characteristics that typify learners and their workplaces. That identified tension is used to suggest how an integration of training methods may be effected in workplaces.

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Approximately 440 base pairs (bp) of the mitochondrial 16S ribosomal ribose nucleic acid (rRNA) coding region were sequenced from 13 marron, Cherax tenuimanus (Smith), samples from six locations and samples of two additional Cherax species from Western Australia. The results indicated that, with the exception of the Margaret River, no variation was found within or between marron populations. In contrast, marron from the Margaret River were found to be polymorphic for two divergent haplotypes (2.76% divergence). These findings were consistent with allozyme data that highlight the general lack of genetic variability within and between populations of this species apart from the Margaret River stocks. The genetic polymorphisms in the Margaret River stocks contrasted with earlier studies and indicated the recent translocation and mixing of genetically differentiated stocks within this river system. The implications of these findings for the conservation and management of genetic diversity within marron are discussed.

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Objective: This study was designed to investigate the role of depression, anxiety, and fatigue in Chronic Fatigue Syndrome (CFS) sufferers' objective and subjective cognitive performance. Methods: Twenty-three CFS sufferers and 23 healthy control participants were compared on objective and subjective assessments of cognitive performance. Depression, anxiety, and fatigue were also evaluated. Results: CFS sufferers did not demonstrate any impairment in objective cognitive functioning compared to the control group, and objective performance was not related to their higher levels of depression or their level of fatigue. Depression scores only accounted for a small amount of the variance in CFS sufferers' lower subjective assessment of their cognitive performance compared to control participants. There were no differences between the groups on anxiety scores. Conclusion: The results are discussed in terms of the heterogeneity of the CFS population and the complex interaction of symptomatological factors that characterise CFS.

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This paper aims firstly to look at characteristics of the condition, and current issues related to the symptomatology and presentation of ME-CFS. Secondly, it identifies methodological problems in researching ME/CFS and demonstrates that the experimental approach to researching the condition can be informed by more qualitative, constructivist approaches. Thirdly, it argues that ME-CFS is a contested state whose acceptance by the medical profession requires the legitimation of a demonstrated biomedical basis

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The BEACON gene was initially identified using the differential display polymerase chain reaction on hypothalamic mRNA samples collected from lean and obese Psammomys obesus, a polygenic animal model of obesity. Hypothalamic BEACON gene expression was positively correlated with percentage of body fat, and intracerebroventricular infusion of the Beacon protein resulted in a dose-dependent increase in food intake and body weight. The human homolog of BEACON, UBL5, is located on chromosome 19p in a region previously linked to quantitative traits related to obesity. Our previous studies showed a statistically significant association between UBL5 sequence variation and several obesity- and diabetes-related quantitative physiological measures in Asian Indian and Micronesian cohorts. Here we undertake a replication study in a Mexican American cohort where the original linkage signal was first detected. We exhaustively resequenced the complete gene plus the putative promoter region for genetic variation in 55 individuals and identified five single nucleotide polymorphisms (SNPs), one of which was novel. These SNPs were genotyped in a Mexican American cohort of 900 individuals from 40 families. Using a quantitative trait linkage disequilibrium test, we found significant associations between UBL5 genetic variants and waist-to-hip ratio (p = 0.027), and the circulating concentrations of insulin (p = 0.018) and total cholesterol (p = 0.023) in fasted individuals. These data are consistent with our earlier published studies and further support a functional role for the UBL5 gene in influencing physiological traits that underpin the development of metabolic syndrome.