385 research outputs found

    A guide to cancer genetics in clinical practice

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    Light Scattering by Cholesteric Skyrmions

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    We study the light scattering by localized quasi planar excitations of a Cholesteric Liquid Crystal known as spherulites. Due to the anisotropic optical properties of the medium and the peculiar shape of the excitations, we quantitatively evaluate the cross section of the axis-rotation of polarized light. Because of the complexity of the system under consideration, first we give a simplified, but analytical, description of the spherulite and we compare the Born approximation results in this setting with those obtained by resorting to a numerical exact solution. The effects of changing values of the driving external static electric (or magnetic) field is considered. Possible applications of the phenomenon are envisaged.Comment: 18 pages, 14 figure

    Adjusting the frequency of mammography screening on the basis of genetic risk: Attitudes among women in the UK.

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    Purpose To explore public attitudes towards modifying frequency of mammography screening based on genetic risk. Methods Home-based interviews were carried out with a population-based sample of 942 women aged 18ā€“74 years in the UK. Demographic characteristics and perceived breast cancer (BC) risk were examined as predictors of support for risk-stratified BC screening and of the acceptability of raised or lowered screening frequency based on genetic risk, using multivariate logistic regression. Results Over two-thirds of respondents (65.8%) supported the idea of varying screening frequency on the basis of genetic risk. The majority (85.4%) were willing to have more frequent breast screening if they were found to be at higher risk, but fewer (58.8%) were willing to have less frequent screening if at lower risk (t (956) = 15.6, p < 0.001). Ethnic minority status was associated with less acceptability of more frequent screening (OR = 0.40, 95% CI = 0.21ā€“0.74), but there were no other significant demographic correlates. Higher perceived risk of BC was associated with greater acceptability of more frequent screening (OR = 1.71, 95%CI = 1.27ā€“2.30). Conclusion Women were positive about adjusting the frequency of mammography screening in line with personal genetic risk, but it will be important to develop effective communication materials to minimise resistance to reducing screening frequency for those at lower genetic risk

    Population-based, risk-stratified genetic testing for ovarian cancer risk: a focus group study

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    Study Purpose: A population-based risk stratification programme for ovarian cancer (OC) may improve OC survival by identifying women at increased risk and implementing an appropriate risk management strategy. The present study explored attitudes towards an OC risk stratification programme incorporating predictive genetic testing and risk-stratified screening as part of a larger study investigating OC screening. Methods: Focus groups consisting of 56 members of the general public (mean age 45 years; 34% non-white) were conducted using a hypothetical scenario. The group sessions were recorded, transcribed verbatim and analysed using Framework Analysis. Results: There was strong support for the proposed programme. Genetic testing and risk-stratified screening was thought to raise awareness, offer reassurance and offer opportunities for early intervention. Anxiety was only mentioned in relation to receiving a diagnosis of OC and not with screening per se. Perhaps because lay models of cancer already embrace both environmental and genetic factors, a low-risk result was not anticipated to result in a false sense of immunity. Unexpectedly, participants also wanted to receive cancer prevention advice in conjunction with genetic testing; screening alone was not regarded as sufficient. Conclusion: The encouraging results from this small study warrant further large-scale research into risk-stratified OC screening

    Production and Extraction of Protons by Solid Hydrogenated Targets via UV Laser Ablation

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    In this work we present the preliminary investigations about the production of proton beams by pulsed laser ablation of solid disks produced by compressed Titanium dihydride powder. The laser we used was an excimer KrF, operating at low intensity and ns pulse duration. The ion emission was analyzed by the time-of-flight technique using a Faraday cup as ion collector. We performed studies on the produced plasma for different laser fluence values and accelerating voltage. In free expansion mode we obtained protons and titanium ions having kinetic energy of some hundred of eV; by applying a postaccelerating voltage we obtained beams up to 15 keV

    Clinician-reported barriers to implementing breast cancer chemoprevention in the UK: A qualitative investigation

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    Aims: The use of tamoxifen and raloxifene as preventive therapy for women at increased risk of breast cancer was approved by the National Institute for Health and Care Excellence (NICE) in 2013. We undertook a qualitative investigation to investigate the factors affecting the implementation of preventive therapy within the UK. Methods: We recruited general practitioners (GPs) (n = 10) and clinicians working in family history or clinical genetics settings (FHCG clinicians) (n = 15) to participate in semi-structured interviews. Data were coded thematically within the Consolidated Framework for Implementation Research. Results: FHCG clinicians focussed on the perceived lack of benefit of preventive therapy and difficulties interpreting the NICE guidelines. FHCG clinicians felt poorly informed about preventive therapy, and this discouraged patient discussions on the topic. GPs were unfamiliar with the concept of preventive therapy, and were not aware that they may be asked to prescribe it for high-risk women. GPs were reluctant to initiate therapy because it is not licensed, but were willing to continue a prescription if it had been started in secondary or tertiary care. Conclusions: Barriers to implementing preventive therapy within routine clinical practice are common and could be addressed by engaging all stakeholders during the development of policy documents

    Ion beams delivered by two accelerating gaps for industrial and therapeutic applications

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    Laser ion sources offer the possibility to get ion beams utilizable to improve particle accelerators. Today many laboratories, as well as the LEAS, are involved to develop accelerators of very contained dimensions, easy to be installed in little laboratories and hospitals. Pulsed lasers at intensities of the order of 108 W/cm2 and of ns pulse duration, interacting with solid matter in vacuum, produce plasma of high temperature and density. The charge state distribution of the plasma generates high electric fields which accelerate ions along the normal to the target surface. The energy of emitted ions has a shifted Maxwell-Boltzmann distribution which depends on the ion charge state. To increase the ion energy, a post-acceleration system can be employed by means of high voltage power supplies of about 100 kV. The post acceleration system results a good method to obtain high ion currents using a not expensive system and the final ion beams find interesting applications in the field of the ion implantations, hadrontherapy, scientific applications and industrial use. In this work we study the electromagnetic and geometric proper-ties, like the emittance of the beams delivered by Cu target. Plasmaā€Ÿs characterization was performed us-ing a Faraday cup for the electromagnetic characteris-tics, while for the geometric ones by adopting a pep-per pot system. Applying 60 kV of accelerating volt-age and a laser irradiance of 0.1 GW/cm2, we obtain 5.5 mA of output current and a normalized beam emittance of 0.2 Ļ€ mm mrad. The brightness of the beams was 137 mA(p mm mrad)-2

    Study of Faraday cups for fast ion beams provided by a LIS source

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    Faraday cups are widely utilized to characterize ion and electrons beams. Owing to the secondary electron emission (SEE) induced by the collision of beams with collectors, wrong measurements could emerge from these detectors. To overcome this problem a polarized grid is utilized in front the cup collector at a negative voltage with respect to the collector. Unfortunately, the high voltage connection of the Faraday cups is hard to obtain. Then, in this work we want to study the secondary emission on different Al ion collector designs having tilted surfaces with respect to beam axis. Tests were performed using ion beams accelerated by a power supply up to 40 kV. The results by the modified collector surfaces were compared to the ones performed with a simple flat collector. The results we obtained point out that the secondary electron emission enhanced on incident beam energy and on the angle with respect to the normal direction of the surface. The ratio of the SEE to angle value results constant for the accelerating voltage and the possibility to design an ion collector able to reset the SEE seems not to be reached

    Mainstreamed Genetic Testing in Ovarian Cancer: Patient Experience of the Testing Process

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    Objective: Pathogenic BRCA variants account for between 5.8-24.8% of ovarian cancers. The identification of such a variant can have a significant impact on the affected individual and their relatives ā€“ determining eligibility for targeted therapies, predicting treatment response and granting access to disease prevention strategies. Cancer services are responding to the increased demand for genetic testing with the introduction of mainstreamed genetic testing via oncology clinics. The study aimed to evaluate patient experience of the mainstreamed genetic testing pathway at a tertiary referral centre in London. / Methods: Study participants were patients diagnosed with high-grade non-mucinous ovarian cancer, tested via a mainstreamed genetic testing pathway at the tertiary referral centre between February 2015 and June 2017. Eligible participants were invited to complete the retrospective study questionnaire. Five quantitative measures with additional free-text items evaluated the patient experience of mainstreamed genetic testing. / Results: The tertiary referral centre tested 170 ovarian cancer patients. Twenty-three pathogenic BRCA mutations were identified (23/170, 13.5%). One-hundred and six patients (106/170, 62.4%) met the study inclusion criteria. Twenty-nine of those invited (29/106, 27.4%) to participate returned the retrospective study questionnaire. Pathogenic BRCA1/2 variants were identified within four respondents (4/29, 13.8%). Motivations for genetic testing related to improved medical management, and the ability to provide relatives with genetic information. Participants did not appear to be adversely affected by result disclosure post mainstreamed genetic testing. Two individuals with a pathogenic variant reported that the support provided by the tertiary referral centre post-result disclosure could have been improved. / Conclusion: Results of the current study support further psychosocial research into the expansion of the mainstreamed genetic testing pathway. The results although promising have also highlighted the importance of genetic awareness within the multidisciplinary team and the provision of timely psychological support from genetic specialists

    Population-based genetic risk prediction and stratification for ovarian cancer: views from women at high risk

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    There is an opportunity to improve outcomes for ovarian cancer (OC) through advances in risk stratification, early detection and diagnosis. A population-based OC genetic risk prediction and stratification program is being developed. A previous focus group study with individuals from the general population showed support for the proposed program. This qualitative interview study explores the attitudes of women at high risk of OC. Eight women participated in one-on-one, in-depth, semi-structured interviews to explore: experiences of learning of OC risk, risk perceptions, OC knowledge and awareness, and opinions on risk stratification approach. There was evidence of strong support for the proposed program. Benefits were seen as providing reassurance to women at low risk, and reducing worry in women at high risk through appropriate clinical management. Stratification into ā€˜lowā€™ and ā€˜highā€™ risk groups was well-received. Participants were more hesitant about stratification to the ā€˜intermediateā€™ risk group. The data suggest formats to effectively communicate OC risk estimates will require careful thought. Interactions with GPs were highlighted as a barrier to OC risk assessment and diagnosis. These results are encouraging for the possible introduction and uptake of a risk prediction and stratification program for OC in the general population
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