1,721,055 research outputs found
Comparison of two screening strategies for haemochromatosis : a pilot study investigating uptake and acceptability, feasibility and cost
No full textEThOS - Electronic Theses Online ServiceGBUnited Kingdo
Factors affecting the uptake of screening: a randomised controlled non-inferiority trial comparing a genotypic and a phenotypic strategy for screening for haemochromatosis
No full textBackground/Aims: Haemochromatosis provides an example where a novel pragmatic genotypic screening strategy may be compared with a phenotypic strategy assessing factors affecting uptake, feasibility and cost.Methods: A randomised controlled ‘non-inferiority’ trial testing the hypothesis that the uptake of testing in the genotypic strategy would not be inferior to the uptake in a phenotypic screening strategy. Three thousand individuals aged 30–70 were randomly selected and randomly allocated (stratified by age and sex) to one of two screening strategies. Phenotypic—transferrin saturation on blood sample taken at GP surgery or genotypic-saliva sample taken at home; followed in screen positive individuals with assessment of iron status and genotyping.Results: The difference in uptake between the two strategies was 3.4% (95% CI=0.5–6.8). Uptake was low (32%) and least in young men from socially deprived areas. Phenotypic screening was least costly.Conclusions: In this study, investigating the uptake of screening for a treatable disease in primary care, the uptake of screening with the genotypic strategy was not inferior to that in the phenotypic strategy. The poor uptake in younger men would further limit the effectiveness of screening for haemochromatosis and may have implications for other screening programmes targeted to this group
Haemochromatosis: the need for an agreed case definition
No full textWe were pleased to read the editorial that accompanied the publication of our study. We would like to address one comment that was made. Professor Olynyk queried our allocation of patients to treatment. We failed to explain clearly that any individuals with ferritin levels above the upper limits of normal who were not offered venesection were monitored with repeat ferritin and transferrin saturation at 3 months, followed by a recommendation to their family doctor for further monitoring or referral for treatment should there be evidence of iron accumulation. This strategy reflects the current clinical uncertainty concerning the natural history of iron overload in patients such as these. Despite attempts to reach consensus over the clinical case definition of haemochromatosis further clinical research is required to determine the prognosis of HFE mutations and iron overload. We would urge clinicians and researchers in this area to consider this problem
Comparison of genotypic and phenotypic strategies for population screening in hemochromatosis: Assessment of anxiety, depression, and perception of health
No full textPurpose: Hemochromatosis is a treatable disorder with a major genetic predisposition. It provides an example in which genotypic and phenotypic strategies for screening may be compared. We previously showed noninferiority of uptake of a genotypic population screening strategy for hemochromatosis compared with a phenotypic strategy. In this article we present the psychologic effects of each strategy.Methods: A sample of 3000 individuals from primary care were randomly allocated to a phenotypic or genotypic screening strategy for hemochromatosis, and the 939 individuals who accepted screening provide the sample for this article. Standardized assessments of anxiety, general health, and depression were made at invitation, testing, result-giving, and 6 months.Results: Screening did not lead to significant changes in the self-rated assessments of anxiety, depression, and general health over time, and there were no significant differences between the two screening strategies. The unemployed or permanently disabled had lower ratings of health and higher anxiety and depression.Conclusion: The two screening strategies appeared to cause little adverse psychologic disturbance in the short term, and there was no difference between the two strategies This study provides some empiric data to support arguments against "genetic exceptionalism" and suggests that genetic testing when used for population screening for a treatable disease has few adverse effects.<br/
Use of antihypertensive medications and mortality of patients with autosomal dominant polycystic kidney disease: a population-based study
No full textBackground: This study aimed to estimate the association between antihypertensive therapy and mortality in patients with autosomal dominant polycystic kidney disease (ADPKD).Study Design: Cohort study.Setting & Participants: Participants with ADPKD from the UK General Practice Research Database older than 15 years between 1991 and 2008.Predictors: Use of 5 major classes of antihypertensive drug.Outcomes: Deaths, new renal replacement therapy events.Measurements: Random-effects Poisson models were adjusted for age, sex, year of entry into the cohort, calendar year, prevalent coronary heart disease, stroke, diabetes, hyperlipidemia, and lipid-lowering therapy.Results: From 1991-2008, there were 2,085 cases of ADPKD, with 1,877 contributing person-time for ages older than 15 years. In 1991, antihypertensive drugs were not prescribed for 68% of participants, which decreased to 38% by 2008. The proportion for which 1 class of antihypertensive drug was prescribed increased from 19% in 1991 to 24% in 2008; 2 classes, from 11% to 22%; 3 classes, from 2% to 11%; and 4 or 5 classes, from 1% to 5%. In 1991, drugs acting on the renin-angiotensin system were prescribed for only 7% of participants; by 2008, this had increased to 46%. There was evidence of a trend toward decreasing mortality as the number of antihypertensive drug classes prescribed in a year increased. For participants with 3 classes of drugs prescribed, the incident rate ratio was 0.11 (95% CI, 0.05-0.21; P < 0.001). Each annual increment in year of entry into the cohort was associated with a 6% (95% CI, 2%-10%; P = 0.008) decrease in mortality.Limitations: Reported associations might be accounted for by unmeasured or incompletely measured confounders. These might include changes in other aspects of medical care for patients with ADPKD.Conclusion: Increasing coverage and intensity of antihypertensive therapy is associated with decreasing mortality in people with ADPKD.<br/
Psychosocial aspects of DNA testing for hereditary hemochromatosis in at-risk individuals: a systematic review
No full textAim: to review the psychosocial benefits and harms of DNA testing for HFE-related hereditary hemochromatosis (HH) in at-risk individuals. Background: HH is a common genetic disease in people of European descent. DNA-based predisposition testing is used for diagnosis or in the context of family testing, but there are concerns about potential psychosocial consequences. Methods: fifteen electronic databases (including Medline and Cochrane) were searched from inception to April 2007 to identify any quantitative or qualitative primary research that considered DNA testing of individuals considered at-risk of HH and reported psychosocial outcomes. Inclusion criteria, data extraction, and quality assessment were undertaken by standard methodology. Results: three observational studies met the inclusion criteria of the review; each had methodological limitations. On receipt of test results, anxiety levels fell or were unchanged; general health-related quality-of-life outcomes improved in some aspects, or were unchanged with respect to pretest result values. Outcomes were not reported separately for those referred for diagnosis and those with family history of HH. Results suggest that genetic testing for HH in at-risk individuals is accompanied by few negative psychosocial outcomes. Conclusion: the evidence on the psychosocial aspects of DNA testing for HH in at-risk individuals is limited. Further research might be required if other factors influencing the natural history of the disease phenotype are identifie
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Variations on the Author
Full text link“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
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