123 research outputs found

    The Goodwin Acuity Test, an innovative technique for screening children

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    Although Snellen charts are routinely used in school screenings, an easier, more complete screening tool that anyone can administer is needed for younger children. We tested the Goodwin Acuity Test (GAT), which involves a matching exercise on an educational robot (Playskool Alphie®) that gives feedback with sounds and lights. At a school screening of twenty-five first graders, monocular visual acuities assessed with the 4 meter and 40 centimeter Lighthouse Visual Acuity Test (modified Early Treatment of Diabetic Retinopathy Study (ETDRS) with Sloan letters), and the GAT far (4m) and near (33 em) logMAR charts. Comparisons between the two chart types were made in the areas of acuities obtained, time of administration, and relative enjoyment determined by a verbal questionnaire. Distance visual acuity between the ETDRS (0.183 logMAR=20/30) and GAT (0.188 logMAR=20/30) acuity charts, did not differ significantly (p \u3e 0.05) with ANOVA repeated measures. Near visual acuity with the GAT (0.98 logMAR=20/25) is comparable to the ETDRS (0.167 logMAR= 20/30+1) and the children (80%) enjoyed the GAT more; however it took 2 times longer to administer. The GAT can not be used quickly because the robot takes too much time playing music between selections. Therefore, the GAT is not a quick mass screening method, but the acuity cards created for the GAT would be a valuable addition for pediatric evaluations. The GAT can still be used with the Alphie® to help young children feel more comfortable, and it\u27s music and buttons can be disregarded for a quicker screening test. The GAT would be helpful for preliterate children, non-English speaking children, and special needs children or adults who need extra time to perform the test

    Prediction of outcome in locally advanced breast cancer by post-chemotherapy nodal status and baseline serum tumour markers

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    In spite of the apparent improvement in outcome in locally advanced breast cancer, the prognosis remains dismal in many patients. The aim of this study was to define prognostic subgroups within this heterogeneous entity. Between 1990 and 1999, 104 consecutive patients with locally advanced breast cancer were treated by a multimodality programme consisting of 4–6 courses of CAF induction chemotherapy followed by surgery, breast-conserving when feasible. In most cases, chemotherapy was then resumed, up to a total of eight courses, followed by locoregional radiation therapy. Patients with hormone receptor-positive tumours received tamoxifen (20 mg day−1) for 5 years. At a median follow-up of 57 months, the 5-year overall survival for the entire group and the disease-free survival for the 94 operated patients were 65% and 53%, respectively. Univariate analysis identified 10 prognostic factors of overall and disease-free survival, of which four retained significance on multivariate analysis: inflammatory breast cancer (P=0.0000, P=0.0004, respectively), baseline tumour markers (P=0.003 for both), post-chemotherapy number of involved nodes (P=0.003; P=0.017) and extracapsular spread (P=0.052; P=0.014). In conclusion, besides inflammatory features, baseline tumour markers and post-chemotherapy nodal status are strong predictors of outcome in locally advanced breast cancer

    An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

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    There is tremendous potential for genome sequencing to improve clinical diagnosis and care once it becomes routinely accessible, but this will require formalizing research methods into clinical best practices in the areas of sequence data generation, analysis, interpretation and reporting. The CLARITY Challenge was designed to spur convergence in methods for diagnosing genetic disease starting from clinical case history and genome sequencing data. DNA samples were obtained from three families with heritable genetic disorders and genomic sequence data were donated by sequencing platform vendors. The challenge was to analyze and interpret these data with the goals of identifying disease-causing variants and reporting the findings in a clinically useful format. Participating contestant groups were solicited broadly, and an independent panel of judges evaluated their performance. RESULTS: A total of 30 international groups were engaged. The entries reveal a general convergence of practices on most elements of the analysis and interpretation process. However, even given this commonality of approach, only two groups identified the consensus candidate variants in all disease cases, demonstrating a need for consistent fine-tuning of the generally accepted methods. There was greater diversity of the final clinical report content and in the patient consenting process, demonstrating that these areas require additional exploration and standardization. CONCLUSIONS: The CLARITY Challenge provides a comprehensive assessment of current practices for using genome sequencing to diagnose and report genetic diseases. There is remarkable convergence in bioinformatic techniques, but medical interpretation and reporting are areas that require further development by many groups
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