Risk Perceptions and Knowledge of Breast Cancer Genetics in Women at Increased Risk of Developing Hereditary Breast Cancer

Abstract: This multicentre study investigated accuracy of perceived breast cancer risk and breast cancer genetics knowledge in 333 women at increased risk of developing hereditary breast cancer. Only women who had never been affected by breast cancer and approached one of 14 familial cancer clinics for advice about their breast cancer risk were assessed prior to their attendance at the clinic. Eleven percent of women underestimated. 57% accurately estimated their risk and 32% overestimated their breast cancer risk. Compared to accurate estimators, overestimators were younger (OR = 0.97: 95% CI, 0.95-1.00;P = .051), had higher breast cancer anxiety levels (OR = 1.03; 95% CI, 1.01-1.05; p = .0038) and were more likely to fall into the lower breast cancer risk categories (P < .0001). These findings suggest that an approach that exclusively relies on conveying factual information on breast cancer risk is unlikely to succeed in correcting excessive risk perceptions, and that it may be necessary to also address excessive breast cancer anxiety. Furthermore, many women at high risk of developing breast cancer have misconceptions about breast cancer genetics, underscoring the value of referral to comprehensive specialist counselling services

Evidence for anti-osteoporosis therapy in acute fracture situations - recommendations of a multidisciplinary workshop of the international society for fracture repair

The International Society for Fracture Repair convened a multidisciplinary workshop to assess the current evidence around the interaction between anti-osteoporosis drugs and the healing of incident fractures, with a view to making recommendations for clinical practice. The consensus was that there is no evidence-based reason to withhold anti-resorptive therapy while a fracture heals, whether or not the patient was taking such therapy when the fracture occurred. The workshop also considered existing models of service provision for secondary prevention and concluded that the essential ingredient for reliable delivery is the inclusion of a dedicated coordinator role. Several unresolved issues were defined as subjects for further research, including the question of whether continuous long-term administration of anti-resorptives may impair bone quality. The rapidly changing area requires re-assessment of drugs and their interaction with fracture healing in the near future.Jörg Goldhahn, David Little, Paul Mitchell, Nicola Fazzalari, Ian R. Reid, Per Aspenberg, David Marsh on behalf of the ISFR working group drugs and fracture repai

Additional file 1: Table S1. of Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

DSD gene variants. Each variant found in a diagnostic gene (after the filtering and curation process) is shown. In some cases where the gene is inherited in an autosomal recessive manner, two variants are grouped together. Inheritance has been indicated where familial samples were available: negative indicates negative for variant and N/A sample not available. De novo events have only been noted where both parental samples were available and found to be negative for the change. Previously reported refers to a variant being described in either ClinVar, HGMD, or a publication in a peer-reviewed journal via a PubMed search. Variants were classified consistent with previous MPS publications of DSD cohorts [8, 10] which were based on ACMG guidelines [15]. VUS were called for three reasons: 1 = fits phenotype but predicted to be benign; 2 = damaging but doesn’t fit phenotype; or 3 = variant in the AR repetitive region. Patients marked with an asterisk were identified to have two or more diagnostic gene variants. Null variants (frameshifts, splice sites mutations, and premature stop codons) are shown in bold. Patients have been classified based on clinical notes provided, according to the recommended classification of DSD in the Chicago consensus report. Classifications: CGD complete gonadal dysgenesis, DASA disorders of androgen synthesis or action, DSD DSD of “unknown” origin; hypospadias, LCH Leydig cell hypoplasia, OT ovotesticular DSD, PGD partial gonadal dysgenesis, PMDS persistent Müllerian duct syndrome; syndromic, T testicular DSD. Related affected individuals are indicated. File is in Excel spreadsheet format. (XLSX 47 kb

Additional file 1 of Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium

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Additional file 1 of Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium

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Association between convalescent plasma treatment and mortality in COVID-19: a collaborative systematic review and meta-analysis of randomized clinical trials

Abstract Background Convalescent plasma has been widely used to treat COVID-19 and is under investigation in numerous randomized clinical trials, but results are publicly available only for a small number of trials. The objective of this study was to assess the benefits of convalescent plasma treatment compared to placebo or no treatment and all-cause mortality in patients with COVID-19, using data from all available randomized clinical trials, including unpublished and ongoing trials (Open Science Framework, https://doi.org/10.17605/OSF.IO/GEHFX ). Methods In this collaborative systematic review and meta-analysis, clinical trial registries (ClinicalTrials.gov, WHO International Clinical Trials Registry Platform), the Cochrane COVID-19 register, the LOVE database, and PubMed were searched until April 8, 2021. Investigators of trials registered by March 1, 2021, without published results were contacted via email. Eligible were ongoing, discontinued and completed randomized clinical trials that compared convalescent plasma with placebo or no treatment in COVID-19 patients, regardless of setting or treatment schedule. Aggregated mortality data were extracted from publications or provided by investigators of unpublished trials and combined using the Hartung–Knapp–Sidik–Jonkman random effects model. We investigated the contribution of unpublished trials to the overall evidence. Results A total of 16,477 patients were included in 33 trials (20 unpublished with 3190 patients, 13 published with 13,287 patients). 32 trials enrolled only hospitalized patients (including 3 with only intensive care unit patients). Risk of bias was low for 29/33 trials. Of 8495 patients who received convalescent plasma, 1997 died (23%), and of 7982 control patients, 1952 died (24%). The combined risk ratio for all-cause mortality was 0.97 (95% confidence interval: 0.92; 1.02) with between-study heterogeneity not beyond chance (I2 = 0%). The RECOVERY trial had 69.8% and the unpublished evidence 25.3% of the weight in the meta-analysis. Conclusions Convalescent plasma treatment of patients with COVID-19 did not reduce all-cause mortality. These results provide strong evidence that convalescent plasma treatment for patients with COVID-19 should not be used outside of randomized trials. Evidence synthesis from collaborations among trial investigators can inform both evidence generation and evidence application in patient care