56 research outputs found
Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome
No full textBackground:
Germline mutations or large-scale deletions in the coding region and splice sites of STK11/LKB1 do not account for all cases of Peutz-Jeghers syndrome (PJS). It is conceivable that, on the basis of data from other diseases, inherited variation in promoter elements of STK11/LKB1 may cause PJS.Results:
Phylogenetic foot printing and transcription factor binding site prediction of sequence 5' to the coding sequence of STK11/LKB1 was performed to identify non-coding sequences of DNA indicative of regulatory elements. A series of 33 PJS cases in whom no mutation in STK11/LKB1 could be identified were screened for sequence changes in the putative promoter defined by nucleotides -1090 to -1472. Two novel sequence changes were identified, but were found to be present in healthy individuals.Conclusion:
These findings indicate that promoter sequence changes are unlikely to contribute to PJS
An economic appraisal of screening for Down's syndrome in pregnancy using maternal age and serum alpha fetoprotein concentration
No full textAn economic appraisal of screening for Down's syndrome in pregnancy using maternal age and serum alpha fetoprotein concentration
No full textThe direct and indirect costs and benefits of expanding the existing screening programme for Down's syndrome by using maternal age and serum alpha fetoprotein concentrations have been calculated using an ascertainment of Down's syndrome pregnancies from the North East Thames Regions in 1982. In addition a possible approach to evaluating the total costs and benefits to the families concerned is presented. If the uptake of the proposed screening programme is maximal, the replacement rate is zero and a discount rate of 5% is used, the benefit cost ratio is 23.6. If the uptake of the programme is 50%, the replacement rate is 100% and a discount rate of 7% is used, the benefit cost ratio is 12.2. The proposed screening programme, based upon a risk of Down's syndrome of at least 1 in 220 using maternal age and serum alpha fetoprotein is both equitable for families at risk and of economic benefit to both families and society.maternal serum alpha fetoprotein Down's syndrome equity costs and benefits amniocentesis North East Thames Region
Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial
No full textBACKGROUND: Observational studies report that higher intake of dietary fibre (a heterogeneous mix including non-starch polysaccharides and resistant starches) is associated with reduced risk of colorectal cancer, but no randomised trials with prevention of colorectal cancer as a primary endpoint have been done. We assessed the effect of resistant starch on the incidence of colorectal cancer.METHODS: In the CAPP2 study, individuals with Lynch syndrome were randomly assigned in a two-by-two factorial design to receive 600 mg aspirin or aspirin placebo or 30 g resistant starch or starch placebo, for up to 4 years. Randomisation was done with a block size of 16. Post-intervention, patients entered into double-blind follow-up; participants and investigators were masked to treatment allocation. The primary endpoint for this analysis was development of colorectal cancer in participants randomly assigned to resistant starch or resistant-starch placebo with both intention-to-treat and per-protocol analyses. This study is registered, ISRCTN 59521990.FINDINGS: 463 patients were randomly assigned to receive resistant starch and 455 to receive resistant-starch placebo. At a median follow-up 52·7 months (IQR 28·9-78·4), 53 participants developed 61 primary colorectal cancers (27 of 463 participants randomly assigned to resistant starch, 26 of 455 participants assigned to resistant-starch placebo). Intention-to-treat analysis of time to first colorectal cancer showed a hazard ratio (HR) of 1·40 (95% CI 0·78-2·56; p=0·26) and Poisson regression accounting for multiple primary events gave an incidence rate ratio (IRR) of 1·15 (95% CI 0·66-2·00; p=0·61). For those completing 2 years of intervention, per-protocol analysis yielded a HR of 1·09 (0·55-2·19, p=0·80) and an IRR of 0·98 (0·51-1·88, p=0·95). No information on adverse events was gathered during post-intervention follow-up.INTERPRETATION: Resistant starch had no detectable effect on cancer development in carriers of hereditary colorectal cancer. Dietary supplementation with resistant starch does not emulate the apparently protective effect of diets rich in dietary fibre against colorectal cancer.FUNDING: European Union, Cancer Research UK, Bayer Corporation, National Starch and Chemical Co, UK Medical Research Council, Newcastle Hospitals Trustees, Cancer Council of Victoria Australia, THRIPP South Africa, The Finnish Cancer Foundation, SIAK Switzerland, and Bayer Pharma
Temporal and spatial relations between patents and scientific journal articles: the case of nanotechnologies
No full textPatent citations have been widely used in order to study inter-technology and science-technology relations. The present work aims at: i) exploring time relations and distance between technical/innovative activities and scientific knowledge, using journal articles citations in patents as a proxy; ii) exploring the origin of the knowledge cited in patents. The study is performed on a field particularly relevant both on the scientific and technological side, that of nanosciences and nanotechnologies. In parallel a field less on the edge of research (polymers) is studied in order to compare results and shed better light on what is happening in nanotech. Studied items show a common behaviour and a higher rate of citations and a shorter time lag between citing patents and cited articles for nanotechnologies rather than for polymers. Knowledge cited in patents shows in many cases a common origin with that of citing documents. Conclusions on these behaviours are drawn.Patent-research relations, Patent, Journal Article, Nanoscience, Nanotechnologies, Polymers, Technological trajectories, Data mining, Innovation, Knowledge diffusion
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