54 resultados para SMITH-MAGENIS-SYNDROME


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Metabolic syndrome (MetS), also previously known by a variety of other names, including insulin resistance syndrome and the deadly quartet, is characterized by clustering of abdominal (visceral and retroperitoneal) obesity and other cardiovascular risk factors, including impaired glucose regulation, raised triglycerides, decreased high-density lipoprotein cholesterol (HDL-C), elevated blood pressure (BP).

Associated with increased risk of both type 2 diabetes and cardiovascular disease (CVD), MetS is believed to be a contributor to the modern-day epidemics of diabetes and CVD and has become a major public health challenge around the world [I]. Currently, there are five different sets of criteria which have been developed to characterize the syndrome. These definitions differ in the components included and the cut-points used for each component. The prevalence of MetS in the westernized world is significant (10-50%) and believed to be increasing over time. The pathophysiology of the syndrome is unclear, but it is thought that obesity and/or insulin resistance are key underlying components. Genetics, lifestyle and environment factors are also important causes of MetS.

This chapter provides:

• a historical overview of the evolution of MetS;
• a summary of the value of the different definitions used to characterize the syndrome;
• a summary of the underlying pathophysiology, the causes and other important risk factors of MetS;
• a summary of the evidence describing the association of MetS with CVD and diabetes;
• a summary of the prevalence of MetS using the various definitions in different countries.

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The mechanisms of how tea and epigallocatechin-3-gallate (EGCG) lower body fat are not completely understood. This study investigated long-term administration of green tea (GT), black tea (BT), or isolated EGCG (1 mg/kg per day) on body composition, glucose tolerance, and gene expression related to energy metabolism and lipid homeostasis; it was hypothesized that all treatments would improve the indicators of metabolic syndrome. Rats were fed a 15% fat diet for 6 months from 4 weeks of age and were supplied GT, BT, EGCG, or water. GT and BT reduced body fat, whereas GT and EGCG increased lean mass. At 16 weeks GT, BT, and EGCG improved glucose tolerance. In the liver, GT and BT increased the expression of genes involved in fatty acid synthesis (SREBP-1c, FAS, MCD, ACC) and oxidation (PPAR-α, CPT-1, ACO); however, EGCG had no effect. In perirenal fat, genes that mediate adipocyte differentiation were suppressed by GT (Pref-1, C/EBP-β, and PPAR-γ) and BT (C/EBP-β), while decreasing LPL, HSL, and UCP-2 expression; EGCG increased expression of UCP-2 and PPAR-γ genes. Liver triacylglycerol content was unchanged. The results suggest that GT and BT suppressed adipocyte differentiation and fatty acid uptake into adipose tissue, while increasing fat synthesis and oxidation by the liver, without inducing hepatic fat accumulation. In contrast, EGCG increased markers of thermogenesis and differentiation in adipose tissue, while having no effect on liver or muscle tissues at this dose. These results show novel and separate mechanisms by which tea and EGCG may improve glucose tolerance and support a role for these compounds in obesity prevention.

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Background: Irritable Bowel Syndrome (IBS) is a chronic functional disorder of the bowel, affecting up to 15% of Australian adults. Dietary triggers need to be identified and controlled. Researchers have shown that short chain carbohydrates, fructans (high in onion and garlic) play a major role in triggering IBS symptoms. Current dietary management aims to limit the intake of fructans in the diet. Another approach may be to use simple food processing to reduce fructans in foods.

Objective
: To investigate if pickling will reduce fructan levels in garlic and shallots, and if pickled garlic and shallots reduce colonic fermentation, and  abdominal symptoms in human volunteers.

Design: Fructan levels of the garlic and shallots were measured using the Megazyme fructan assay. 18 volunteers (13 healthy and 5 IBS) participated in a single blinded, randomised cross over study. Subjects were randomly assigned to receive a breakfast (potato and salmon patty) that was either high (unprocessed) or low (processed/pickled) in garlic and shallots. Breath hydrogen was measured every hour over a ten hour period, and abdominal symptoms were assessed using validated questionnaires.

Outcomes: Pickling over a 12 day period significantly reduced fructan levels in both garlic (p=.0.00) and shallots (p=0.00). Consumption of the low fructan breakfast resulted in significantly lower breath hydrogen (p=0.05), abdominal pain (p=0.032), and wind (p=0.04).

Conclusion: Pickling results in significantly lowered fructan levels in problem foods- shallots and garlic, and lowered colonic fermentation and abdominal symptoms in both healthy and IBS volunteers. This study provides another dietary strategy for dietetic counselling of patients with IBS.

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Several observational studies have shown that the chronic consumption of high glycaemic index diet is associated with an increased risk of developing metabolic syndrome.  This study was performed to identify the direct influences on the lipid profile and the adipose tissue deposition and the subsequent development of the risk of metabolic syndrome in rats by feeding diets of low glycaemic index (LGI) and high glycaemic index (HGI). Fifty rat weanlings (three weeks old) were equally divided into two groups and fed on either low glycaemic index diet based on high amylose, or isocaloric high glycacmic index diet for 12 weeks. Postprandial blood and tissue samples were collected at the end of the 12 weeks of feeding. The total white adipose tissue weights of the HGl fed rats (24.74 ± 0.53 glrat) were significantly higher than the LGl fed rats (15.37 ± 0.36 gh·at). The HO! led rats had higher postprandial leptin concentrations (1.86 ± 0.17 ng/ml) than LGI fed rats (1.34 ± 0.12 ng/ml). The postprandial insulin, and postprandial insulin glucose ratio were higher in the HGI fed rats (7.06 ± 0.90 ng/ml and 0.67 ± 0.01 ng/mlxmM) compared to the LGl fed rats (3.91 ± 0.4 ng/ml and 0.44 ± 0.01 ng/mlxmM). Triglycerides of the l-IGI fed rats showed higher values (I .56 ± 0.10 mM) than the LO! fed rats (l.07 ± 0.08 mM). The results indicated that LGI feeding was beneficial in preventing the conditions enhancing the cardio vascular disease whereas long-term feeding of HGI diet may increase the risk of developing metabolic syndrome in rats.

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Chronic Fatigue Syndrome (CFS) is a debilitating condition in which severe, ongoing fatigue is the most prominent of a complex of somatic, psychological and neuropsychological symptoms. The aetiology of CFS remains uncertain and, to date, efforts to distinguish a clear pathophysiological profile for the disorder have been unsuccessful. Current evidence suggests that, rather than being a discrete disease entity with a single cause, CFS is a clinical condition resulting from the interaction of a number of pathophysiological factors, including acute infections, stress and psychiatric disorder. Recently, there has been some interest in the proposition that disordered circadian time-keeping may contribute to the development and/or course of the illness. The rationale for the investigation of circadian factors in CFS is based on the fact that disorders known to be associated with circadian dysregulation, such as jet lag and shiftwork related syndromes have a high degree of symptomatological overlap with CFS. Also, the presence of circadian disturbance could account, in part, for other phenomenological aspects of CFS, including the high rates of comorbid affective disturbance, and the reports of low-level immune dyregulation among sufferers. While several recent studies have produced some evidence of chronobiological dysregulation in CFS patients, much work remains before conclusions can be drawn about the presence, nature and clinical significance of circadian disturbance in CFS. This thesis describes a series of studies that were designed to systematically investigate: 1. whether CFS is associated with a state of circadian dysregulation, and 2. whether circadian dysregulation contributes significantly to the symptomatology of CFS. The first of the 5 studies reported here compared the circadian patterns of sleep-activity of CFS sufferers with those of healthy controls. Results indicated that CFS patients' sleep-activity cycles were significantly phase delayed compared to controls, and that some aspects of their circadian profiles of sleep-activity were related to some measures of sleep-disturbance and well-being. Studies 2 and 3 investigated the relationship between rhythms of sleep-wake and core temperature in CFS patients and healthy controls. The major finding from these studies was that sleep-wake and core temperature rhythms appear to be less effectively synchronised. Further evidence was collected that suggested that there was a relationship between circadian parameters and symptom measures in the CFS group. While this indicated that circadian dysregulation is linked in some way to the symptoms of CFS, assessment of the actual clinical significance of circadian disturbances required the use of a prospective methodology. The final two studies, therefore, report on a placebo-controlled trial of clinical interventions that were designed to restore circadian integrity to CFS patients, in order to see whether this would lead to a reduction in symptom number or severity. Results indicated that, although patients experienced improvements across a range of measures of symptoms and functional capacity, these were small in magnitude, of unlikely clinical significance, and no greater, in general, to improvements reported by patients who underwent placebo treatment. These results, along with those of the earlier studies, are discussed with respect to their implications regarding the presence and significance of circadian dysregulation. It is concluded that, while they provide evidence that CFS is associated with a degree of both internal and external circadian desynchrony, these findings suggest that circadian dysregulation is likely to be only a peripheral, contributor to the processes that generate and maintain the symptom complex. These findings are discussed with respect to how they contribute to our overall understanding of this multi-dimensional condition, and the implications they have for the continuing effort to investigate the causes and treatment of CFS.

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Background:  Physical activity (PA) reduces risk factors related to metabolic syndrome. Rurality influences the way people incorporate physical activity into daily life. The aim of this study is to determine the association of PA level with metabolic syndrome in a rural Australian population. The influence of adiposity on these associations is also investigated.

Methods: Three cross-sectional population health surveys were conducted in south-east Australia during 2004–2006 using a random population sample (n = 1563, participation rate 49%) aged 25–74 years. PA was assessed via a self-administered questionnaire, and components of the metabolic syndrome via anthropometric measurements taken by specially trained nurses and laboratory tests.

Results: Approximately one-fifth of participants were inactive in leisure-time and over one-third had metabolic syndrome (men 39%, women 33%; p = 0.022). There was an inverse association between level of PA and metabolic syndrome (p < 0.001). Men who were inactive in leisure-time were more than twice as likely and women more than three times as likely to have metabolic syndrome compared with those having high PA. Body mass index (BMI) is a mediating factor in the association between level of PA and metabolic syndrome.

Conclusion: Some PA is better than none if adults, particularly women, are to reduce their risk of metabolic syndrome and associated vascular diseases. Specialised interventions that take rurality into consideration are recommended for adults who are inactive.

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The human immunodeficiency virus–acquired immune deficiency syndrome (HIV–AIDS) epidemic in Hong Kong has been under surveillance in the form of voluntary reporting since 1984. However, there has been little discussion or research on the reconstruction of the HIV incidence curve. This paper is the first to use a modified back-projection method to estimate the incidence of HIV in Hong Kong on the basis of the number of positive HIV tests only. The model proposed has several advantages over the original back-projection method based on AIDS data only. First, not all HIV-infected individuals will develop AIDS by the time of analysis, but some of them may undertake an HIV test; therefore, the HIV data set contains more information than the AIDS data set. Second, the HIV diagnosis curve usually has a smoother pattern than the AIDS diagnosis curve, as it is not affected by redefinition of AIDS. Third, the time to positive HIV diagnosis is unlikely to be affected by treatment effects, as it is unlikely that an individual receives medication before the diagnosis of HIV. Fourth, the induction period from HIV infection to the first HIV positive test is usually shorter than the incubation period which is from HIV infection to diagnosis of AIDS. With a shorter induction period, more information becomes available for estimating the HIV incidence curve. Finally, this method requires the number of positive HIV diagnoses only, which is readily available from HIV–AIDS surveillance systems in many countries. It is estimated that, in Hong Kong, the cumulative number of HIV infections during the period 1979–2000 is about 2600, whereas an estimate based only on AIDS data seems to give an underestimate.