524 research outputs found
Effects of a pre-visit educational website on information recall and needs fulfilment in breast cancer genetic counselling, a randomized controlled trial
INTRODUCTION: Pre-visit education which helps counselees to prepare for their first visit for breast cancer genetic counseling might enhance information recall and needs fulfilment. This study assessed the effects of a pre-visit website with tailored information and question prompt sheet (QPS), named E-info gene(ca). METHODS: A total of 197 counselees were randomized to receive usual care (UC) or UC plus E-info gene(ca). All counselees completed a pre- and post-visit questionnaire and visits were videotaped. We studied effects on counselees' information recall, knowledge about breast cancer and heredity, fulfillment of needs, risk perception alignment, anxiety and perceived personal control, using multilevel regression analyses. RESULTS: Intent-to-treat analysis showed that counselees in the intervention group (n = 103) had higher levels of recall of information from the consultation (β = .32; confidence interval (CI): .04 to .60; P = .02; d = .17) and post-visit knowledge of breast cancer and heredity (β = .30; CI: .03 to .57; P = .03) than counselees in the UC group (n = 94). Also, intervention group counselees reported better fulfilment of information needs (β = .31; CI: .03 to .60; P = .03). The effects of the intervention were strongest for those counselees who did not receive an indication for DNA testing. Their recall scores showed a larger increase (β = .95; CI: .32 to 1.59; P = .003; d = .30) and their anxiety levels dropped more in the intervention compared to the UC group (β = -.60; CI: -1.12 to -.09; P = .02). No intervention effects were found after the first visit on risk perception alignment or perceived personal control. CONCLUSIONS: This study shows that pre-counseling education, using tailored information technology, leads to more effective first visits for breast cancer genetic counseling, in particular for counselees who received no indication for DNA testing and, therefore, had no indication for a second visit. Future study should focus on the effects of a pre-visit website on the outcomes after a complete series of visits. TRIAL REGISTRATION: Dutch Trial Register ISRCTN82643064
Nest characteristics determine nest microclimate and affect breeding output in an Antarctic seabird, the Wilson’s storm-petrel
Cognitive and affective outcomes of genetic counselling in the Netherlands at group and individual level:a personalized approach seems necessary
We performed a large outcome study at group and individual level in which the goals of genetic counselling were operationalized into cognitive and affective outcomes: empowerment, perceived personal control and anxiety. We then examined which socio-demographic and clinical variables were associated with changes in these outcomes. Data came from 1479 counselees who completed questionnaires (GCOS-18, PPC and STAI) at three time points: before the start of genetic counselling, after the first consultation and after the results of genetic counselling were disclosed. Results showed that at group level empowerment, perceived personal control and anxiety improved significantly after the whole genetic counselling process. Effect-sizes were medium for empowerment and small for the other outcomes. At individual level, 48% of counselees improved in empowerment, 21% in perceived personal control and 17% in anxiety. Around 10% of counselees worsened on all outcomes. Only 'reason for referral' and 'genetic test result' were significantly associated with changes in outcomes. This study demonstrated improvements among counselees in cognitive and affective outcomes after genetic counselling at group level. However, our results also suggest that there are opportunities for improvement at individual level, as many counselees remained stable and some even worsened on all outcomes. Routine outcome monitoring could help to explore the needs of counselees and could help to identify counselees who worsen.</p
The most efficient and effective BRCA1/2 testing strategy in epithelial ovarian cancer:Tumor-First or Germline-First?
Objective: Genetic testing in epithelial ovarian cancer (OC) is essential to identify a hereditary cause like a germline BRCA1/2 pathogenic variant (PV). An efficient strategy for genetic testing in OC is highly desired. We evaluated costs and effects of two strategies; (i) Tumor-First strategy, using a tumor DNA test as prescreen to germline testing, and (ii) Germline-First strategy, referring all patients to the clinical geneticist for germline testing.Methods: Tumor-First and Germline-First were compared in two scenarios; using real-world uptake of testing and setting implementation to 100%. Decision analytic models were built to analyze genetic testing costs (including counseling) per OC patient and per family as well as BRCA1/2 detection probabilities. With a Markov model, the life years gained among female relatives with a germline BRCA1/2 PV was investigated.Results: Focusing on real-world uptake, with the Tumor-First strategy more OC patients and relatives with a germline BRCA1/2 PV are detected (70% versus 49%), at lower genetic testing costs (€1898 versus €2502 per patient, and €2511 versus €2930 per family). Thereby, female relatives with a germline BRCA1/2 PV can live on average 0.54 life years longer with Tumor-First compared to Germline-First. Focusing on 100% uptake, the genetic testing costs per OC patient are substantially lower in the Tumor-First strategy (€2257 versus €4986).Conclusions: The Tumor-First strategy in OC patients is more effective in identifying germline BRCA1/2 PV at lower genetic testing costs per patient and per family. Optimal implementation of Tumor-First can further improve detection of heredity in OC patients.</p
Probability of detecting germline BRCA1/2 pathogenic variants in histological subtypes of ovarian carcinoma:A meta-analysis
Background: Histology restricted genetic predisposition testing of ovarian carcinoma patients is a topic of debate as the prevalence of BRCA1/2 pathogenic variants (PVs) in various histological subtypes is ambiguous. Our primary aim was to investigate the proportion of germline BRCA1/2 PVs per histological subtype. Additionally, we evaluated (i) proportion of somatic BRCA1/2 PVs and (ii) proportion of germline PVs in other ovarian carcinoma risk genes. Methods: PubMed, EMBASE and Web of Science were systematically searched and we included all studies reporting germline BRCA1/2 PVs per histological subtype. Pooled proportions were calculated using a random-effects meta-analysis model. Subsets of studies were used for secondary analyses. Results: Twenty-eight studies were identified. The overall estimated proportion of germline BRCA1/2 PVs was 16.8% (95% CI 14.6 to 19.2). Presence differed substantially among patients with varying histological subtypes of OC; proportions being highest in high-grade serous (22.2%, 95% CI 19.6 to 25.0) and lowest in clear cell (3.0%, 95% CI 1.6 to 5.6) and mucinous (2.5%, 95% CI 0.6 to 9.6) carcinomas. Somatic BRCA1/2 PVs were present with total estimated proportion of 6.0% (95% CI 5.0 to 7.3), based on a smaller subset of studies. Germline PVs in BRIP1, RAD51C, RAD51D, PALB2, and ATM were present in approximately 3%, based on a subset of nine studies. Conclusion: Germline BRCA1/2 PVs are most frequently identified in high-grade serous ovarian carcinoma patients, but are also detected in patients having ovarian carcinomas of other histological subtypes. Limiting genetic predisposition testing to high-grade serous ovarian carcinoma patients will likely be insufficient to identify all patients with a germline PV
Vitalum study design: RCT evaluating the efficacy of tailored print communication and telephone motivational interviewing on multiple health behaviors
Abstract
Background
A large proportion of adults fail to meet public health guidelines for physical activity as well as fruit, vegetable and fat intake. Interventions are needed to improve these health behaviors. Both computer tailoring and motivational interviewing have shown themselves to be promising techniques for health behavior change. The Vitalum project aims to compare the efficacy of these techniques in improving the health behaviors of adults aged 45–70. This paper describes the design of the Vitalum study.
Methods/Design
Dutch general medical practices (N = 23) were recruited via a registration network or by personal invitation. The participants were then enrolled through these general practices using an invitational letter. They (n = 2,881) received a written baseline questionnaire to assess health behaviors, and potential psychosocial and socio-demographic behavioral determinants. A power analysis indicated that 1,600 participants who were failing to meet the guidelines for physical activity and either fruit or vegetable consumption were needed. Eligible participants were stratified based on hypertension status and randomized into one of four intervention groups: tailored print communication, telephone motivational interviewing, combined, and control. The first two groups either received four letters or took part in four interviews, whereas the combined group received two letters and took part in two interviews in turns at 5, 13, 30 and 43 weeks after returning the baseline questionnaire. Each letter and interview focused on physical activity or nutrition behavior. The participants also took part in a telephone survey 25 weeks after baseline to gather new information for tailoring. There were two follow-up questionnaires, at 47 and 73 weeks after baseline, to measure short- and long-term effects. The control group received a tailored letter after the last posttest. The process, efficacy and cost-effectiveness of the interventions will be examined by means of multilevel mixed regression, cost-effectiveness analyses and process evaluation.
Discussion
The Vitalum study simultaneously evaluates the efficacy of tailored print communication and telephone motivational interviewing, and their combined use for multiple behaviors and people with different motivational stages and education levels. The results can be used by policymakers to contribute to evidence-based prevention of chronic diseases.
Trial Registration
Dutch Trial Register NTR1068http://deepblue.lib.umich.edu/bitstream/2027.42/112919/1/12889_2008_Article_1186.pd
Asymptomatic and lateonset ornithine transcarbamylase deficiency caused by a A208T mutation: Clinical, biochemical and DNA analyses in a four‐generation family
Внутриартериальная химиотерапия в комбинированном лечении резектабельного рака желудка с метастазами в печень
В Донецком областном противоопухолевом центре разработан и внедрен способ катетеризации печеночной артерии при паллиативных операциях у больных раком желудка с метастазами в печень. По данному способу пролечено 56 больных резектабельным раком желудка с метастатическим поражением печени, что позволило увеличить продолжительность и улучшить качество жизни больных.У Донецькому обласному протипухлинному центрі розроблено та впроваджено спосіб катетеризації печінкової артерії при паліативних операціях у хворих на рак шлунку з метастазами в печінку. За цим способом проліковано 56 хворих на резектабельний рак шлунку з метастатичним ураженням печінки, що дало змогу збільшити тривалість і поліпшити якість життя хворих.A method of catheterization of hepatic artery at palliative surgery in patients with gastric cancer and metastases to the liver was worked out and introduced at Donetsk Regional Antitumor Center. This method was used in 56 patients with operable cancer of the stomach with metastases to the liver, which allowed increasing the duration and improving the quality of life of the patients
Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: Clinical, biochemical and DNA analyses in a four-generation family
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