69 research outputs found

    Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).

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    We report an allelic series of eight mutations in GATA2 underlying Emberger syndrome, an autosomal dominant primary lymphedema associated with a predisposition to acute myeloid leukemia. GATA2 is a transcription factor that plays an essential role in gene regulation during vascular development and hematopoietic differentiation. Our findings indicate that haploinsufficiency of GATA2 underlies primary lymphedema and predisposes to acute myeloid leukemia in this syndrome

    Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.

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    Mutations in the nuclear-encoded mitochondrial maintenance gene RRM2B are an important cause of familial mitochondrial disease in both adults and children and represent the third most common cause of multiple mitochondrial DNA deletions in adults, following POLG [polymerase (DNA directed), gamma] and PEO1 (now called C10ORF2, encoding the Twinkle helicase) mutations. However, the clinico-pathological and molecular features of adults with RRM2B-related disease have not been clearly defined. In this multicentre study of 26 adult patients from 22 independent families, including five additional cases published in the literature, we show that extra-ocular neurological complications are common in adults with genetically confirmed RRM2B mutations. We also demonstrate a clear correlation between the clinical phenotype and the underlying genetic defect. Myopathy was a prominent manifestation, followed by bulbar dysfunction and fatigue. Sensorineural hearing loss and gastrointestinal disturbance were also important findings. Severe multisystem neurological disease was associated with recessively inherited compound heterozygous mutations with a mean age of disease onset at 7 years. Dominantly inherited heterozygous mutations were associated with a milder predominantly myopathic phenotype with a later mean age of disease onset at 46 years. Skeletal muscle biopsies revealed subsarcolemmal accumulation of mitochondria and/or cytochrome c oxidase-deficient fibres. Multiple mitochondrial DNA deletions were universally present in patients who underwent a muscle biopsy. We identified 18 different heterozygous RRM2B mutations within our cohort of patients, including five novel mutations that have not previously been reported. Despite marked clinical overlap between the mitochondrial maintenance genes, key clinical features such as bulbar dysfunction, hearing loss and gastrointestinal disturbance should help prioritize genetic testing towards RRM2B analysis, and sequencing of the gene may preclude performance of a muscle biopsy

    The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages.

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    To access publisher's full text version of this article click on the hyperlink belowGenetic advances mean patients at risk of genetic conditions can be helped through testing, clinical screening, and preventive treatment, but they must first be identified to benefit. Ensuring quality of genetic care for patients requires genetic expertise in all health services, including primary care. To address an educational shortfall, a series of e-learning resources was developed in six languages to equip primary care professionals with genetic skills relevant for practice. The purpose of the study was to evaluate these resources using Kirkpatrick's framework for educational outcomes. Mixed methods (qualitative and quantitative) were used over four phases of the study. A high level of satisfaction with the resources was reported. Knowledge and skills improved significantly after using the education material. Participants reported changes in confidence and practice behavior, including family history taking, seeking advice from specialists and referring patients. The resources helped users to learn how to explain genetics. Many visited the resources repeatedly and some used them to educate colleagues or students. Gen-Equip modules are effective in improving genetic knowledge, skills, and attitudes for primary care professionals. They provide both continuing professional development and just-in-time learning for a potentially large global audience at a practical level.European Unio

    Rheumatoid arthritis - clinical aspects: 134. Predictors of Joint Damage in South Africans with Rheumatoid Arthritis

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    Background: Rheumatoid arthritis (RA) causes progressive joint damage and functional disability. Studies on factors affecting joint damage as clinical outcome are lacking in Africa. The aim of the present study was to identify predictors of joint damage in adult South Africans with established RA. Methods: A cross-sectional study of 100 black patients with RA of >5 years were assessed for joint damage using a validated clinical method, the RA articular damage (RAAD) score. Potential predictors of joint damage that were documented included socio-demographics, smoking, body mass index (BMI), disease duration, delay in disease modifying antirheumatic drug (DMARD) initiation, global disease activity as measured by the disease activity score (DAS28), erythrocyte sedimentation rate (ESR), C reactive protein (CRP), and autoantibody status. The predictive value of variables was assessed by univariate and stepwise multivariate regression analyses. A p value <0.05 was considered significant. Results: The mean (SD) age was 56 (9.8) years, disease duration 17.5 (8.5) years, educational level 7.5 (3.5) years and DMARD lag was 9 (8.8) years. Female to male ratio was 10:1. The mean (SD) DAS28 was 4.9 (1.5) and total RAAD score was 28.3 (12.8). The mean (SD) BMI was 27.2 kg/m2 (6.2) and 93% of patients were rheumatoid factor (RF) positive. More than 90% of patients received between 2 to 3 DMARDs. Significant univariate predictors of a poor RAAD score were increasing age (p = 0.001), lower education level (p = 0.019), longer disease duration (p < 0.001), longer DMARD lag (p = 0.014), lower BMI (p = 0.025), high RF titre (p < 0.001) and high ESR (p = 0.008). The multivariate regression analysis showed that the only independent significant predictors of a higher mean RAAD score were older age at disease onset (p = 0.04), disease duration (p < 0.001) and RF titre (p < 0.001). There was also a negative association between BMI and the mean total RAAD score (p = 0.049). Conclusions: Patients with longstanding established RA have more severe irreversible joint damage as measured by the clinical RAAD score, contrary to other studies in Africa. This is largely reflected by a delay in the initiation of early effective treatment. Independent of disease duration, older age at disease onset and a higher RF titre are strongly associated with more joint damage. The inverse association between BMI and articular damage in RA has been observed in several studies using radiographic damage scores. The mechanisms underlying this paradoxical association are still widely unknown but adipokines have recently been suggested to play a role. Disclosure statement: C.I. has received a research grant from the Connective Tissue Diseases Research Fund, University of the Witwatersrand. All other authors have declared no conflicts of interes

    Crop Updates 2005 - Farming Systems

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    This session covers forty four papers from different authors: PLENARY 1. 2005 Outlook, David Stephens and Nicola Telcik, Department of Agriculture FERTILITY AND NUTRITION 2. The effect of higher nitrogen fertiliser prices on rotation and fertiliser strategies in cropping systems, Ross Kingwell, Department of Agriculture and University of Western Australia 3. Stubble management: The short and long term implications for crop nutrition and soil fertility, Wayne Pluske, Nutrient Management Systems and Bill Bowden, Department of Agriculture 4. Stubble management: The pros and cons of different methods, Bill Bowden, Department of Agriculture, Western Australia and Mike Collins, WANTFA 5. Effect of stubble burning and seasonality on microbial processes and nutrient recycling, Frances Hoyle, The University of Western Australia 6. Soil biology and crop production in Western Australian farming systems, D.V. Murphy, N. Milton, M. Osman, F.C. Hoyle, L.K Abbott, W.R. Cookson and S. Darmawanto, The University of Western Australia 7. Urea is as effective as CAN when no rain for 10 days, Bill Crabtree, Crabtree Agricultural Consulting 8. Fertiliser (N,P,S,K) and lime requirements for wheat production in the Merredin district, Geoff Anderson, Department of Agriculture and Darren Kidson, Summit Fertilizers 9. Trace element applications: Up-front verses foliar? Bill Bowden and Ross Brennan, Department of Agriculture 10. Fertcare®, Environmental Product Stewardship and Advisor Standards for thee Fertiliser Industry, Nick Drew, Fertilizer Industry Federation of Australia (FIFA) SOIL AND LAND MANAGEMENT 11. Species response to row spacing, density and nutrition, Bill Bowden, Craig Scanlan, Lisa Sherriff, Bob French and Reg Lunt, Department of Agriculture 12. Investigation into the influence of row orientation in lupin crops, Jeff Russell, Department of Agriculture and Angie Roe, Farm Focus Consultants 13. Deriving variable rate management zones for crops, Ian Maling, Silverfox Solutions and Matthew Adams, DLI 14. In a world of Precision Agriculture, weigh trailers are not passé, Jeff Russell, Department of Agriculture 15. Cover crop management to combat ryegrass resistance and improve yields, Jeff Russell, Department of Agriculture and Angie Roe, Farm Focus Consultants 16. ARGT home page, the place to find information on annual ryegrass toxicity on the web, Dr George Yan, BART Pty Ltd 17. Shallow leading tine (SLT) ripper significantly reduces draft force, improves soil tilth and allows even distribution of subsoil ameliorants, Mohammad Hamza, Glen Riethmuller and Wal Anderson, Department of Agriculture PASTURE ANS SUMMER CROP SYSTEMS 18. New annual pasture legumes for Mediteranean farming systems, Angelo Loi, Phil Nichols, Clinton Revell and David Ferris, Department of Agriculture 19. How sustainable are phase rotations with Lucerne? Phil Ward, CSIRO Plant Industry 20. Management practicalities of summer cropping, Andrea Hills and Sally-Anne Penny, Department of Agriculture 21. Rainfall zone determines the effect of summer crops on winter yields, Andrea Hills, Sally-Anne Penny and David Hall, Department of Agriculture 22. Summer crops and water use, Andrea Hills, Sally-Anne Penny and David Hall, Department of Agriculture, and Michael Robertson and Don Gaydon, CSIRO Brisbane 23. Risk analysis of sorgum cropping, Andrea Hills and Sally-Anne Penny, Department of Agriculture, and Dr Michael Robertson and Don Gaydon, CSIRO Brisbane FARMER DECISION SUPPORT AND ADOPTION 24. Variety release and End Point Royalties – a new system? Tress Walmsley, Department of Agriculture 25. Farming system analaysis using the STEP Tool, Caroline Peek and Megan Abrahams, Department of Agriculture 26. The Leakage Calculator: A simple tool for groundwater recharge assessment, Paul Raper, Department of Agriculture 27. The cost of Salinity Calculator – your tool to assessing the profitability of salinity management options, Richard O’Donnell and Trevor Lacey, Department of Agriculture 28. Climate decision support tools, Meredith Fairbanks and David Tennant, Department of Agriculture 29. Horses for courses – using the best tools to manage climate risk, Cameron Weeks, Mingenew-Irwin Group/Planfarm and Richard Quinlan, Planfarm Agronomy 30. Use of seasonal outlook for making N decisions in Merredin, Meredith Fairbanks and Alexandra Edward, Department of Agriculture 31. Forecasts and profits, Benefits or bulldust? Chris Carter and Doug Hamilton, Department of Agriculture 32. A tool to estimate fixed and variable header and tractor depreciation costs, Peter Tozer, Department of Agriculture 33. Partners in grain: ‘Putting new faces in new places’, Renaye Horne, Department of Agriculture 34. Results from the Grower group Alliance, Tracey Gianatti, Grower Group Alliance 35. Local Farmer Group Network – farming systems research opportunities through local groups, Paul Carmody, Local Farmer Group Network GREENHOUSE GAS AND CLIMATE CHANGE 36. Changing rainfall patterns in the grainbelt, Ian Foster, Department of Agriculture 37. Vulnerability of broadscale agriculture to the impacts of climate change, Michele John, CSIRO (formerly Department of Agriculture) and Ross George, Department of Agriculture 38. Impacts of climate change on wheat yield at Merredin, Imma Farré and Ian Foster, Department of Agriculture 39. Climate change, land use suitability and water security, Ian Kininmonth, Dennis van Gool and Neil Coles, Department of Agriculture 40. Nitrous oxide emissions from cropping systems, Bill Porter, Department of Agriculture, Louise Barton, University of Western Australia 41. The potential of greenhouse sinks to underwrite improved land management in Western Australia, Richard Harper and Peter Ritson, CRC for Greenhouse Accounting and Forest Products Commission, Tony Beck, Tony Beck Consulting Services, Chris Mitchell and Michael Hill, CRC for Greenhouse Accounting 42. Removing uncertainty from greenhouse emissions, Fiona Barker-Reid, Will Gates, Ken Wilson and Rob Baigent, Department of Primary Industries - Victoria and CRC for Greenhouse Accounting (CRCGA), and Ian Galbally, Mick Meyer and Ian Weeks, CSIRO Atmospheric Research and CRCGA 43. Greenhouse in Agriculture Program (GIA), Traci Griffin, CRC for Greenhouse Accounting 44. Grains Greenhouse Accounting framework, D. Rodriguez, M. Probust, M. Meyers, D. Chen, A. Bennett, W. Strong, R. Nussey, I. Galbally and M. Howden CONTACT DETAILS FOR PRINCIPAL AUTHOR

    Analysis of the effects of exposure to acute hypoxia on oxidative lesions and tumour progression in a transgenic mouse breast cancer model

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    <p>Abstract</p> <p>Background</p> <p>Tumour hypoxia is known to be a poor prognostic indicator, predictive of increased risk of metastatic disease and reduced survival. Genomic instability has been proposed as one of the potential mechanisms for hypoxic tumour progression. Both of these features are commonly found in many cancer types, but their relationship and association with tumour progression has not been examined in the same model.</p> <p>Methods</p> <p>To address this issue, we determined the effects of 6 week <it>in vivo </it>acute hypoxic exposure on the levels of mutagenic lipid peroxidation product, malondialdehyde, and 8-oxo-7,8-dihydro-2'-deoxyguanosine DNA (8-oxo-dG) lesions in the transgenic polyomavirus middle T (PyMT) breast cancer mouse model.</p> <p>Results</p> <p>We observed significantly increased plasma lipid peroxidation and 8-oxo-dG lesion levels in the hypoxia-exposed mice. Consumption of malondialdehyde also induced a significant increase in the PyMT tumour DNA lesion levels, however, these increases did not translate into enhanced tumour progression. We further showed that the <it>in vivo </it>exposure to acute hypoxia induced accumulation of F4/80 positive tumour-associated macrophages (TAMs), demonstrating a relationship between hypoxia and macrophages in an experimental model.</p> <p>Conclusion</p> <p>These data suggest that although exposure to acute hypoxia causes an increase in 8-oxo-dG lesions and TAMs in the PyMT tumours, these increases do not translate into significant changes in tumour progression at the primary or metastatic levels in this strong viral oncogene-driven breast cancer model.</p

    Crop Updates 2007 - Lupins, Pulses and Oilseeds

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    This session covers forty eight papers from different authors: 2006 REGIONAL ROUNDUP 1. South east agricultural region, Mark Seymour1 and Jacinta Falconer2, 1Department of Agriculture and Food, 2Cooperative Bulk Handling Group 2. Central agricultural region, Ian Pritchard, Department of Agriculture and Food 3. Great Southern and Lakes region, Rodger Beermier, Department of Agriculture and Food 4. Northern agricultural region, Wayne Parker and Martin Harries, Department of Agriculture and Food LUPINS 5. Development of anthracnose resistant and early flowering albus lupins (Lupinus albus L) in Western Australia, Kedar Adhikari and Geoff Thomas, Department of Agriculture and Food 6. New lupins adapted to the south coast, Peter White, Bevan Buirchell and Mike Baker, Department of Agriculture and Food 7. Lupin species and row spacing interactions by environment, Martin Harries, Peter White, Bob French, Jo Walker, Mike Baker and Laurie Maiolo, Department of Agriculture and Food 8. The interaction of lupin species row spacing and soil type, Martin Harries, Bob French, Laurie Maiolo and Jo Walker, Department of Agriculture and Food 9. The effects of row spacing and crop density on competitiveness of lupins with wild radish, Bob French and Laurie Maiolo, Department of Agriculture and Food 10. The effect of time of sowing and radish weed density on lupin yield, Martin Harries and Jo Walker, Department of Agriculture and Food 11. Interaction of time of sowing and weed management in lupins, Martin Harries and Jo Walker, Department of Agriculture and Food 12. Delayed sowing as a strategy to manage annual ryegrass, Bob French and Laurie Maiolo, Department of Agriculture and Food 13. Is delayed sowing a good strategy for weed management in lupins? Bob French, Department of Agriculture and Food 14. Lupins aren’t lupins when it comes to simazine, Peter White and Leigh Smith, Department of Agriculture and Food 15. Seed yield and anthracnose resistance of Tanjil mutants tolerant to metribuzin, Ping Si1, Bevan Buirchell1,2 and Mark Sweetingham1,2, 1Centre for Legumes in Mediterranean Agriculture, Australia; 2Department of Agriculture and Food 16. The effect of herbicides on nodulation in lupins, Lorne Mills1, Harmohinder Dhammu2 and Beng Tan1, 1Curtin University of Technology and 2Department of Agriculture and Food 17. Effect of fertiliser placements and watering regimes on lupin growth and seed yield in the central grain belt of Western Australia, Qifu Ma1, Zed Rengel1, Bill Bowden2, Ross Brennan2, Reg Lunt2 and Tim Hilder2, 1Soil Science & Plant Nutrition UWA, 2Department of Agriculture and Food 18. Development of a forecasting model for Bean Yellow Mosaic Virus in lupins, T. Maling1,2, A. Diggle1, D. Thackray1,2, R.A.C. Jones2, and K.H.M. Siddique1, 1Centre for Legumes in Mediterranean Agriculture, The University of Western Australia; 2Department of Agriculture and Food 19. Manufacturing of lupin tempe,Vijay Jayasena1,4, Leonardus Kardono2,4, Ken Quail3,4 and Ranil Coorey1,4, 1Curtin University of Technology, Perth, Australia, 2Indonesian Institute of Sciences (LIPI), Indonesia, 3BRI Australia Ltd, Sydney, Australia, 4Grain Foods CRC, Sydney, Australia 20. The impact of lupin based ingredients in ice-cream, Hannah Williams, Lee Sheer Yap and Vijay Jayasena, Curtin University of Technology, Perth WA 21. The acceptability of muffins substituted with varying concentrations of lupin flour, Anthony James, Don Elani Jayawardena and Vijay Jayasena, Curtin University of Technology, PerthWA PULSES 22. Chickpea variety evaluation, Kerry Regan1, Rod Hunter1, Tanveer Khan1,2and Jenny Garlinge1, 1Department of Agriculture and Food, 2CLIMA, The University of Western Australia 23. Advanced breeding trials of desi chickpea, Khan, T.N.1, Siddique, K.H.M.3, Clarke, H.2, Turner, N.C.2, MacLeod, W.1, Morgan, S.1, and Harris, A.1, 1Department of Agriculture and Food, 2Centre for Legumes in Mediterranean Agriculture, 3TheUniversity of Western Australia 24. Ascochyta resistance in chickpea lines in Crop Variety Testing (CVT) of 2006, Tanveer Khan1 2, Bill MacLeod1, Alan Harris1, Stuart Morgan1and Kerry Regan1, 1Department of Agriculture and Food, 2CLIMA, The University of Western Australia 25. Yield evaluation of ascochyta blight resistant Kabuli chickpeas, Kerry Regan1and Kadambot Siddique2, 1Department of Agriculture and Food, 2Institute of Agriculture, The University of Western Australia 26. Pulse WA Chickpea Industry Survey 2006, Mark Seymour1, Ian Pritchard1, Wayne Parker1and Alan Meldrum2, 1Department of Agriculture and Food, 2Pulse Australia 27. Genes from the wild as a valuable genetic resource for chickpea improvement, Heather Clarke1, Helen Bowers1and Kadambot Siddique2, 1Centre for Legumes in Mediterranean Agriculture, 2Institute of Agriculture, The University of Western Australia 28. International screening of chickpea for resistance to Botrytis grey mould, B. MacLeod1, Dr T. Khan1, Prof. K.H.M. Siddique2and Dr A. Bakr3, 1Department of Agriculture and Food, 2The University of Western Australia, 3Bangladesh Agricultural Research Institute 29. Balance® in chickpea is safest applied post sowing to a level seed bed, Wayne Parker, Department of Agriculture and Food, 30. Demonstrations of Genesis 510 chickpea, Wayne Parker, Department of Agriculture and Food 31. Field pea 2006, Ian Pritchard, Department of Agriculture and Food 32. Field pea variety evaluation, Kerry Regan1, Rod Hunter1, Tanveer Khan1,2 and Jenny Garlinge1, 1Department of Agriculture and Food, 2CLIMA, The University of Western Australia 33. Breeding highlights of the Australian Field Pea Improvement Program (AFPIP),Kerry Regan1, Tanveer Khan1,2, Phillip Chambers1, Chris Veitch1, Stuart Morgan1 , Alan Harris1and Tony Leonforte3, 1Department of Agriculture and Food, 2CLIMA, The University of Western Australia, 3Department of Primary Industries, Victoria 34. Field pea germplasm enhancement for black spot resistance, Tanveer Khan, Kerry Regan, Stuart Morgan, Alan Harris and Phillip Chambers, Department of Agriculture and Food 35. Validation of Blackspot spore release model and testing moderately resistant field pea line, Mark Seymour, Ian Pritchard, Rodger Beermier, Pam Burgess and Leanne Young, Department of Agriculture and Food 36. Yield losses from sowing field pea seed infected with Pea Seed-borne Mosaic Virus, Brenda Coutts, Donna O’Keefe, Rhonda Pearce, Monica Kehoe and Roger Jones, Department of Agriculture and Food 37. Faba bean in 2006, Mark Seymour, Department of Agriculture and Food 38. Germplasm evaluation – faba bean, Mark Seymour1, Terri Jasper1, Ian Pritchard1, Mike Baker1 and Tim Pope1,2, 1Department of Agriculture and Food, , 2CLIMA, The University of Western Australia 39. Breeding highlights of the Coordinated Improvement Program for Australian Lentils (CIPAL), Kerry Regan1, Chris Veitch1, Phillip Chambers1 and Michael Materne2, 1Department of Agriculture and Food, 2Department of Primary Industries, Victoria 40. Screening pulse lentil germplasm for tolerance to alternate herbicides, Ping Si1, Mike Walsh2 and Mark Sweetingham1,3, 1Centre for Legumes in Mediterranean Agriculture, 2West Australian Herbicide Resistance Initiative, 3Department of Agriculture and Food 41. Genomic synteny in legumes: Application to crop breeding, Phan, H.T.T.1, Ellwood, S.R.1, Hane, J.1, Williams, A.1, Ford, R.2, Thomas, S.3 and Oliver R1, 1Australian Centre of Necrotrophic Plant Pathogens, Murdoch University, 2BioMarka, University of Melbourne, 3NSW Department of Primary Industries 42. Tolerance of lupins, chickpeas and canola to Balanceâ(Isoxaflutole) and Galleryâ (Isoxaben), Leigh Smith and Peter White, Department of Agriculture and Food CANOLA AND OILSEEDS 43. The performance of TT Canola varieties in the National Variety Test (NVT),WA,2006,Katie Robinson, Research Agronomist, Agritech Crop Research 44. Evaluation of Brassica crops for biodiesel in Western Australia, Mohammad Amjad, Graham Walton, Pat Fels and Andy Sutherland, Department of Agriculture and Food 45. Production risk of canola in different rainfall zones in Western Australia, Imma Farré1, Michael Robertson2 and Senthold Asseng3, 1Department of Agriculture and Food, 2CSIRO Sustainable Ecosystems, 3CSIRO Plant Industry 46. Future directions of blackleg management – dynamics of blackleg susceptibility in canola varieties, Ravjit Khangura, Moin Salam and Bill MacLeod, Department of Agriculture and Food 47. Appendix 1: Contributors 48. Appendix 2: List of common acronym
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