928 resultados para Whole exome sequencing


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Plants are an important source for medicinal compounds. Chemical screening and selection is critical for identification of compounds of interest. Ocimum basilicum (Basil) is a rich source of polyphenolics and exhibits high diversity, therefore bioprospecting of a suitable cultivar is a necessity. This study reports on the development of a true to type novel "in vitro system" and its comparison with a conventional system for screening and selection of cultivars for high total phenolics, individual polyphenolics, and antioxidant content. We have shown for the first time using online acidic potassium permanganate chemiluminescence that extracts from Ocimum basilicum showed antioxidant potential. The current study identified the cultivar specific composition of polyphenolics and their antioxidant properties. Further, a distinct relationship between plant morphotype and polyphenolic content was also found. Of the 15 cultivars examined, "Holy Green", "Red Rubin", and "Basil Genovese" were identified as high polyphenolic producing cultivars while "Subja" was determined to be a low producer. The "in vitro system" enabled differentiation of the cultivars in their morphology, polyphenolic content, and antioxidant activity and is a cheap and efficient method for bioprospecting studies.

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Whole-of-community obesity prevention programs that impact on multiple players and promote community capacity show promise as an important strategy in the fight against global obesity. This paper reviews the economic evaluation literature of multifaceted, community based obesity prevention programs. There are few cost effectiveness studies. Whilst results to date are encouraging, there is considerable uncertainty surrounding the long term results given the lack of evidence regarding sustainability of program effect and a consequent reliance on economic modeling to fill the gaps. More empirical studies of longer duration are needed to demonstrate the longer term effectiveness and cost effectiveness of these programs, and to facilitate identification of the elements necessary for their sustainability.

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Non-pharmacological approaches to the treatment of depression and anxiety are of increasing importance, with emerging evidence supporting a role for lifestyle factors in the development of these disorders. Observational evidence supports a relationship between habitual diet quality and depression. Less is known about the causative effects of diet on mental health outcomes. Therefore a systematic review was undertaken of randomised controlled trials of dietary interventions that used depression and/or anxiety outcomes and sought to identify characteristics of programme success.

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Understanding underlying physiological differences between the sexes in circulating androgens and how hormonal variation affects morphology-performance relationships may help clarify the evolution of sexual dimorphism in diverse taxa. Using a widely distributed Australian lizard (Eulamprus quoyii) with weak sexual dimorphism and no dichromatism, we tested whether circulating androgens differed between the sexes and whether they covaried with morphological and performance traits (bite force, sprint speed, endurance). Males had larger head dimensions, stronger bite force, faster sprint speed, and longer endurance compared to females. We found that the sexes did not differ in androgen concentrations and that androgens were weakly associated with both morphological and performance traits. Interestingly, high circulating androgens showed a nonlinear relationship with bite force in males and not females, with this relationship possibly being related to alternative male reproductive tactics. Our results suggest that androgens are not strongly correlated with most performance and morphological traits, although they may play an important organizational role during the development of morphological traits, which could explain the differences in morphology and thus performance between the sexes. Differences in performance between the sexes suggest differential selection on these functional traits between males and females. © 2014 The Linnean Society of London.

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Massive, parallel sequencing is a potent tool for dissecting the regulation of biological processes by revealing the dynamics of the cellular RNA profile under different conditions. Similarly, massive, parallel sequencing can be used to reveal the complexity of viral quasispecies that are often found in the RNA virus infected host. However, the production of cDNA libraries for next-generation sequencing (NGS) necessitates the reverse transcription of RNA into cDNA and the amplification of the cDNA template using PCR, which may introduce artefact in the form of phantom nucleic acids species that can bias the composition and interpretation of original RNA profiles.

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BACKGROUND: Acute Lymphoblastic Leukaemia (ALL) is the most common cancer in children. Over the past four decades, research has advanced the treatment of this cancer from a less than 60% chance of survival to over 85% today. The causal molecular mechanisms remain unclear. Here, we performed sequencing-based genomic DNA methylation profiling of eight paediatric ALL patients using archived bone marrow smear microscope slides. FINDINGS: SOLiD™ sequencing data was collected from Methyl-Binding Domain (MBD) enriched fractions of genomic DNA. The primary tumour and remission bone marrow sample was analysed from eight patients. Four patients relapsed and the relapsed tumour was analysed. Input and MBD-enriched DNA from each sample was sequenced, aligned to the hg19 reference genome and analysed for enrichment peaks using MACS (Model-based Analysis for ChIP-Seq) and HOMER (Hypergeometric Optimization of Motif EnRichment). In total, 3.67 gigabases (Gb) were sequenced, 2.74 Gb were aligned to the reference genome (average 74.66% alignment efficiency). This dataset enables the interrogation of differential DNA methylation associated with paediatric ALL. Preliminary results reveal concordant regions of enrichment indicative of a DNA methylation signature. CONCLUSION: Our dataset represents one of the first SOLiD™MBD-Seq studies performed on paediatric ALL and is the first to utilise archival bone marrow smears. Differential DNA methylation between cancer and equivalent disease-free tissue can be identified and correlated with existing and published genomic studies. Given the rarity of paediatric haematopoietic malignancies, relative to adult counterparts, our demonstration of the utility of archived bone marrow smear samples to high-throughput methylation sequencing approaches offers tremendous potential to explore the role of DNA methylation in the aetiology of cancer.

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Introduction: In the occupational environment, there are a considerable number of stressors that can affect physical performance in job tasks. Whole-body vibration (WBV), which arises from vehicle transit, is one such stressor that has been demonstrated to alter human function in several ways. This study identifies the known physical changes to human function which result from WBV, to comment on changes which may translate to performance in physically demanding occupational tasks. Methods: A systematic review is performed on the literature relating to changes in the neuromuscular, physiological and biomechanical properties of the human body, when exposed to WBV. Selection criteria are constructed to synthesise articles which strictly relate to in-vehicle WBV and physical responses. Results: In total, 29 articles were identified which satisfied the criteria for inclusion. A range of physical responses produced from WBV are presented; however, little consistency exists in study design and the responses reported. Discussion: Given the inconsistency in the reported responses, the precise changes to human function remain unknown. However, there is sufficient evidence to warrant the design of studies which investigate occupationally relevant physical performance changes following WBV.

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OBJECTIVE: The present article tracks the development of the Australian National Food Plan as a 'whole of government' food policy that aimed to integrate elements of nutrition and sustainability alongside economic objectives. DESIGN: The article uses policy analysis to explore the processes of consultation and stakeholder involvement in the development of the National Food Plan, focusing on actors from the sectors of industry, civil society and government. Existing documentation and submissions to the Plan were used as data sources. Models of health policy analysis and policy streams were employed to analyse policy development processes. SETTING: Australia. SUBJECTS: Australian food policy stakeholders. RESULTS: The development of the Plan was influenced by powerful industry groups and stakeholder engagement by the lead ministry favoured the involvement of actors representing the food and agriculture industries. Public health nutrition and civil society relied on traditional methods of policy influence, and the public health nutrition movement failed to develop a unified cross-sector alliance, while the private sector engaged in different ways and presented a united front. The National Food Plan failed to deliver an integrated food policy for Australia. Nutrition and sustainability were effectively sidelined due to the focus on global food production and positioning Australia as a food 'superpower' that could take advantage of the anticipated 'dining boom' as incomes rose in the Asia-Pacific region. CONCLUSIONS: New forms of industry influence are emerging in the food policy arena and public health nutrition will need to adopt new approaches to influencing public policy.

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Whole-of-community (WOC) interventions have led to modest reductions in population weight gain. Whether they exhibit differential effectiveness by socioeconomic position (SEP) remains unknown. We aimed to summarize evidence of differential effectiveness of WOC interventions by SEP. Electronic databases and grey literature were searched to identify studies that evaluated the effectiveness of a WOC intervention on behavioural change measures, energy balance behaviours and/or anthropometric outcomes according to any measure of SEP. Interventions were assessed for the following characteristics: structural changes to the environment, number of settings the intervention acted in, presence of community engagement and whether equity was considered in its design. Ten studies were included. Nine reported a greater or equal effect among low SEP groups compared with high SEP groups. These studies commonly featured interventions that incorporated structural changes to the environment, acted across more than three settings and/or employed community engagement. Conclusions did not change when excluding low-quality studies (n = 4). WOC interventions represent an effective and equitable approach for the reduction of population weight. Structural components, a larger number of settings and community engagement were common in equitable WOC interventions and should be considered in the design of future WOC interventions.

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STUDY DESIGN: Randomized controlled trial. OBJECTIVE: Determine the effectiveness a resistive exercise countermeasure with whole-body vibration in relation to lumbo-pelvic muscle and spinal morphology changes during simulated spaceflight (bed-rest). SUMMARY OF BACKGROUND DATA: Spinal lengthening, flattening of the spinal curves, increases in disc size, and muscle atrophy are commonly seen in spaceflight simulation. This may represent a risk for low back injury. Consideration of exercise countermeasures against these changes is critical for success of long-term spaceflight missions. METHODS: Twenty healthy male subjects underwent 8-weeks of bed-rest with 6-months follow-up and were randomly allocated to an inactive control or countermeasure exercise group. Magnetic resonance imaging of the lumbo-pelvic region was conducted at regular time-points during and after bed-rest. Using uniplanar images at L4, cross-sectional areas of the multifidus, lumbar erector spinae, quadratus lumborum, psoas, anterolateral abdominal, and rectus abdominis muscles were measured. Sagittal scans were used to assess lumbar spine morphology (length, sagittal disc area and height, and intervertebral angles). RESULTS: The countermeasure group exhibited less multifidus muscle atrophy (P = 0.024) and its atrophy did not persist long-term as in the control group (up to 3-months; P < 0.006). Spinal lengthening (P = 0.03) and increases in disc area (P = 0.041) were also reduced. Significant partial correlations (P < 0.001) existed between spinal morphology and muscle cross-sectional area changes. CONCLUSION: The resistive vibration exercise countermeasure reduced, but did not entirely prevent, multifidus muscle atrophy and passive spinal tissue deconditioning during bed-rest. Atrophy of the multifidus muscles was persistent long-term in the inactive subjects. Future work could consider closer attention to spinal posture during exercise and optimizing exercise dose.

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To evaluate the effect of short-duration, high-load resistive exercise, with and without whole body vibration on lumbar muscle size, intervertebral disk and spinal morphology changes, and low back pain (LBP) incidence during prolonged bed rest, 24 subjects underwent 60 days of head-down tilt bed rest and performed either resistive vibration exercise (n = 7), resistive exercise only (n = 8), or no exercise (n = 9; 2nd Berlin Bed-Rest Study). Discal and spinal shape was measured from sagittal plane magnetic resonance images. Cross-sectional areas (CSAs) of the multifidus, erector spinae, quadratus lumborum, and psoas were measured on para-axial magnetic resonance images. LBP incidence was assessed with questionnaires at regular intervals. The countermeasures reduced CSA loss in the multifidus, lumbar erector spinae and quadratus lumborum muscles, with greater increases in psoas muscle CSA seen in the countermeasure groups (P ≤ 0.004). There was little statistical evidence for an additional effect of whole body vibration above resistive exercise alone on these muscle changes. Exercise subjects reported LBP more frequently in the first week of bed rest, but this was only significant in resistive exercise only (P = 0.011 vs. control, resistive vibration exercise vs. control: P = 0.56). No effect of the countermeasures on changes in spinal morphology was seen (P ≥ 0.22). The results suggest that high-load resistive exercise, with or without whole body vibration, performed 3 days/wk can reduce lumbar muscle atrophy, but further countermeasure optimization is required.

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Little is known about the motor control of the lumbo-pelvic musculature in microgravity and its simulation (bed-rest). Analysis of spectral and temporal electromyographic variables can provide information on motor control relevant for normal function. This study examined the effect of 56-days of bed-rest with 1-year follow-up in 10 male subjects on the median frequency and the activation timing in surface electromyographic recordings from five superficial lumbo-pelvic muscles during a repetitive knee movement task. Trunk fat mass (from whole body-composition measurements) and movement accuracy as possible explanatory factors were included. Increased median frequency was observed in the lumbar erector spinae starting late in bed-rest, but this was not seen in its synergist, the thoracic erector spinae (p<.0001). These changes persisted up to 1-year after bed-rest and were independent of changes in body-composition or movement accuracy. Analysis suggested decreases of median frequency (p<.0001) in the abdominal and gluteal muscles to result from increased (p<.01) trunk fat levels during and after bed-rest. No changes in lumbo-pelvic muscle activation timing were seen. The results suggest that bed-rest particularly affects the shorter lumbar erector spinae and that the temporal sequencing of superficial lumbo-pelvic muscle activation is relatively robust.

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SUMMARY: The addition of whole-body vibration to high-load resistive exercise may provide a better stimulus for the reduction of bone loss during prolonged bed rest (spaceflight simulation) than high-load resistive exercise alone. INTRODUCTION: Prior work suggests that the addition of whole-body vibration to high-load resistive exercise (RVE) may be more effective in preventing bone loss in spaceflight and its simulation (bed rest) than resistive exercise alone (RE), though this hypothesis has not been tested in humans. METHODS: Twenty-four male subjects as part of the 2nd Berlin Bed Rest Study performed RVE (n = 7), RE (n = 8) or no exercise (control, n = 9) during 60-day head-down tilt bed rest. Whole-body, spine and total hip dual X-ray absorptiometry (DXA) measurements as well as peripheral quantitative computed tomography measurements of the tibia were conducted during bed rest and up to 90 days afterwards. RESULTS: A better retention of bone mass in RVE than RE was seen at the tibial diaphysis and proximal femur (p ≤ 0.024). Compared to control, RVE retained bone mass at the distal tibia and DXA leg sub-region (p ≤ 0.020), but with no significant difference to RE (p ≥ 0.10). RE impacted significantly (p = 0.038) on DXA leg sub-region bone mass only. Calf muscle size was impacted similarly by both RVE and RE. On lumbar spine DXA, whole-body DXA and calcium excretion measures, few differences between the groups were observed. CONCLUSIONS: Whilst further countermeasure optimisation is required, the results provide evidence that (1) combining whole-body vibration and high-load resistance exercise may be more efficient than high-load resistive exercise alone in preventing bone loss at some skeletal sites during and after prolonged bed rest and (2) the effects of exercise during bed rest impact upon bone recovery up to 3 months afterwards.

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Fat accumulates in the bone marrow of lumbar vertebrae with bed rest. Exercise with or without whole body vibration may counter this effect. Our objectives were to measure 1) the vertebral fat fraction (VFF) of men subjected to bed rest who performed resistive exercises with (RVE, n = 7) or without whole body vibration(RE, n = 8) or no exercise (CTR, n = 9) using three MRI techniques; and 2) changes in peripheral blood counts. Twenty-four healthy men (age: 20-45 yr) underwent -6° head-down tilt (HDT) bed rest for 60 days. MRI was performed using three techniques (fat saturation, proton spectroscopy, and in and out of phase) to measure the fat fraction of L(3), L(4), and/or L(5) at baseline, mid-HDT, and end-HDT. Erythrocytes and leukocytes were counted at HDT days 19, 33, 47, 54, and 60. The mean absolute VFF was increased in the CTR group at mid-HDT and end-HDT (+3.9 ± 1.3 and +3.6 ± 1.2%, respectively, both P < 0.05). The RE group had a smaller VFF change than the CTR group at mid-HDT (-0.9 ± 1.2 vs. +3.9 ± 1.3%, P < 0.05). The RVE group had a smaller VFF change than the CTR group at end-HDT (-2.6 ± 1.9 vs. +3.5 ± 1.2%, P < 0.05). Erythrocyte counts were increased in all groups at HDT day 19 and HDT day 33 and in the RE group at HDT day 54 (all P < 0.05). Bed rest for 60 days at -6° HDT increased lumbar VFF in men beyond natural involution. RVE and RE regimens effectively prevented VFF accumulation. Higher erythrocyte counts were not altered by RVE or RE. Whole body vibration, along with RE administered to people with prolonged immobility, may prevent fat accumulation in their bone marrow.

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OBJECTIVES: In order to better understand which training approaches are more effective for preventing bone loss in post-menopausal women with low bone mass, we examined the effect of a nine-month resistive exercise program with either an additional whole body vibration exercise (VIB) or balance training (BAL). METHODS: 68 post-menopausal women with osteopenia were recruited for the study and were randomised to either the VIB or BAL group. Two training sessions per week were performed. 57 subjects completed the study (VIB n=26; BAL n=31). Peripheral quantitative computed tomography (pQCT) measurements of the tibia, fibula, radius and ulna were performed at baseline and at the end of the intervention period at the epiphysis (4% site) and diaphysis (66% site). Analysis was done on an intent-to-treat approach. RESULTS: Significant increases in bone density and strength were seen at a number of measurement sites after the intervention period. No significant differences were seen in the response of the two groups at the lower-leg. CONCLUSIONS: This study provided evidence that a twice weekly resistive exercise program with either additional balance or vibration training could increase bone density at the distal tibia after a nine-month intervention period in post-menopausal women with low bone mass.