1,576 research outputs found

    The CAG trinucleotide repeat length in the androgen receptor does not predict the early onset of prostate cancer

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    Objective To relate the repeat length of the androgen-receptor CAG trinucleotide to the age of onset of prostate cancer, stage and grade of disease. Patients and methods After obtaining ethical approval, 265 patients with locally confined or locally advanced/metastatic prostate cancer were identified and evaluated for age at diagnosis (less than 65 years and greater than 75 years). DNA was extracted from peripheral blood lymphocytes and 1 mug aliquots subjected to polymerase chain reaction using fluorescently labelled primers. Samples were then run on an ABI 377 gene scan analysis gel with an internal molecular weight marker. The length of the CAG repeat was determined by comparing the gene scan product size to samples where the CAG repeat length had been quantified using direct sequencing. The Kruskal-Wallis, Mann-Whitney and Wilcoxon two sample tests were used to analyse the data. Results The mean (range) length of the CAG repeat in the androgen receptor was 22.2 (10-31) in the younger and 22.5 (16-32) in the older group, and was not statistically different. There was no significant association between the CAG repeat length and the age of onset of prostate cancer (P = 0.568) or with stage (P = 0.577) and grade (P = 0.891) of prostate cancer. Conclusion These results suggest that there is no correlation between the androgen receptor CAG repeat length and the age of onset, stage and grade of prostate cancer, confirming recent doubts from other similar studies of a suggested correlation between shorter androgen receptor CAG repeat and early onset and aggressiveness of prostate cancer

    CV20017

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    This report provides the results of the eighth underwater television on the ‘Porcupine Bank Nephrops grounds’ ICES assessment area; Functional Unit 16. The survey was multi-disciplinary in nature collecting UWTV and other ecosystem data. In total 65 UWTV stations were successfully completed in a randomised 6 nautical mile isometric grid covering the full spatial extent of the stock. The mean burrow density observed in 2020, adjusted for edge effect, was 0.17 burrows/m². The final krigged abundance estimate was 1264 million burrows with a CV of 4% and an estimated stock area of 7,130 km2. The 2020 abundance estimate was 25% higher than in 2019. Using the 2020 estimate of abundance and updated stock data implies catches between 2653 and 3290 tonnes in 2021 that correspond to the F ranges in the EU multiannual plan for Western Waters (assuming that all catch is landed). Four species of sea-pen; Virgularia mirabilis, Funiculina quadrangularis, Pennatula phosphorea and the deepwater sea-pen Kophobelemnon stelliferum were observed during the survey. Trawl marks were also observed on 22% of the stations surveyed

    On Ruth Stone

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    Optimising mothers’ health behaviour after hypertensive disorders of pregnancy: a qualitative study of a postnatal intervention

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    Background: Hypertensive disorders of pregnancy have longer-term implications, increasing women’s lifetime cardiovascular disease risk. The Blood Pressure Postpartum study is a multi-centre randomised three-arm trial of interventions, ranging in intensity and including education and lifestyle coaching, to support women to maintain or adopt healthy eating and physical activity during the first postpartum year. This qualitative sub-study nested within the main trial aimed to investigate whether and how women adopted healthy behaviours after a pregnancy complicated by a hypertensive disorder. Methods: Semi-structured telephone interviews were recorded, transcribed and analysed thematically, following Braun and Clarke principles. They explored behaviour change among new mothers following their hypertensive pregnancy, and the intervention’s effect on their capacity and motivation to pursue healthy lifestyles. Results: Thirty-four women from all three trial arms participated at 10–12 months postpartum. The three main themes were 1) Awareness of cardiovascular risk: some did not acknowledge the health risks, whereas others embraced this information. 2) Sources of motivation: while the majority were motivated to make a concerted effort to adapt their health behaviour, motivation often centred on their baby and family rather than their own needs. 3) Sustaining behaviour change with a new baby: women in the more intensive intervention arm demonstrated increased recognition of the importance of reducing cardiovascular health risks, with greater motivation and guidance to change their health behaviour. There was minimal evidence of crossover amongst groups, with women largely accepting their randomised level of intervention and not seeking additional help when randomised to minimal intervention. Conclusions: Among women participating in an early post-hypertensive disorders of pregnancy randomised controlled trial aimed at improving their cardiovascular disease risk profile, the majority recognised the future health risks and appeared motivated to improve their lifestyle, particularly women in the highest-intensity intervention group. This highlights the importance of structured support to assist women embrace healthy lifestyles especially during the challenges of new parenthood. Trial registration: The Blood Pressure Postpartum study was prospectively registered as a clinical trial with the Australian New Zealand Clinical Trials Registry (anzctr.org.au) on 13 December 2018 (registration number: ACTRN12618002004246)

    CV14011

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    This report provides the main results of the 2014 underwater television survey on the ‘Labadie, Jones and Cockburn Banks’ ICES assessment area; Functional Unit 20-21. Some exploratory UWTV stations were carried out in 2006 and 2012. In 2013 ~60% of the ground was surveyed. This was the first survey to achieve full coverage of the newly defined area. The 2014 survey was multi-disciplinary in nature collecting UWTV, CTD and other ecosystem data. A randomised isometric grid design was employed with 98 UWTV stations at 6.0 nmi intervals. The mean burrow density was 0.19 burrows/m2 compared with 0.16 burrows/m2 in 2013. The 2014 geostatistical abundance estimate was 2.1±0.1 billion a 26% increase on the extrapolated abundance for 2013. Highest densities were general observed towards the middle of the ground, but there were also high densities observed close to boundaries. Using the 2014 abundance and recent fisheries data it is possible to estimate harvest ratios consistent with various landings options. These can be used by ICES to provide catch options for 2015. The occurrence of sea-pens and trawl marks on the UWTV footage and processed CTD is also presented

    Everyday legitimacy and international administration: global governance and local legitimacy in Kosovo

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    International administrations are a very specific form of statebuilding. This paper examines the limits illustrated by the experience in Kosovo. Here, the international administration faced the same requirements of any legitimate, Liberal government, but without the checks and balances normally associated with Liberal governance. Thus, the international administration was granted full authority and the power thereby associated, but without the legitimacy upon which the Liberal social contract rests. The state-building agenda put forth came to be seen as more exogenous, reinforcing the delegitimization process. This paper will specifically address the influence of the Weberian approach to legitimacy on the statebuilding literature, as well as its limits. It will then propose other possible avenues for statebuilding, more in line with a wider understanding of legitimacy and intervention

    C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies

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    OBJECTIVE: In many cases where Huntington disease (HD) is suspected, the genetic test for HD is negative: these are known as HD phenocopies. A repeat expansion in the C9orf72 gene has recently been identified as a major cause of familial and sporadic frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Our objective was to determine whether this mutation causes HD phenocopies. METHODS: A cohort of 514 HD phenocopy patients were analyzed for the C9orf72 expansion using repeat primed PCR. In cases where the expansion was found, Southern hybridization was performed to determine expansion size. Clinical case notes were reviewed to determine the phenotype of expansion-positive cases. RESULTS: Ten subjects (1.95%) had the expansion, making it the most common identified genetic cause of HD phenocopy presentations. The size of expansion was not significantly different from that associated with other clinical presentations of C9orf72 expanded cases. The C9orf72 expansion-positive subjects were characterized by the presence of movement disorders, including dystonia, chorea, myoclonus, tremor, and rigidity. Furthermore, the age at onset in this cohort was lower than previously reported for subjects with the C9orf72 expansion and included one case with pediatric onset. DISCUSSION: This study extends the known phenotype of the C9orf72 expansion in both age at onset and movement disorder symptoms. We propose a revised clinico-genetic algorithm for the investigation of HD phenocopy patients based on these data
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