METHOD: Twenty terminally ill patients were interviewed with semi-structured questions. The results were thematically analyzed.
RESULTS: Eight themes were generated: the meaning of happiness, connections, mindset, pleasure, health, faith, wealth, and work. Our results showed that happiness is possible at the end of life. Happiness can coexist with pain and suffering. Social connections were the most important element of happiness at the end of life. Wealth and work were given the least emphasis. From the descriptions of our patients, we recognized a tendency for the degree of importance to shift from the hedonic happiness to eudaimonic happiness as patients experienced a terminal illness.
SIGNIFICANCE OF RESULTS: To increase the happiness of palliative care patients, it is crucial to assess the meaning of happiness for each patient and the degree of importance for each happiness domain to allow targeted interventions.
METHODS: A single-center, systematically randomly sampled, single-blinded, controlled study was conducted among 80 first-year medical students. The students were randomly assigned to the text-reading (control) or story-based audiovisual mnemonics (intervention) group. After completing the learning session, the participants immediately took a test that consisted of ten multiple-choice questions, each of which had one correct single-response answer, and an oral recall test that consisted of ten keywords based on the given topics. The test was repeated at 1 week, 2 weeks, and 4 weeks post intervention. Descriptive and inferential statistics were utilized to assess the participants' responses. The mean score difference between the audiovisual mnemonics and control groups was determined by using a two-tailed unpaired t-test.
RESULTS: The participants in the intervention group had statistically significant higher marks in the multiple-choice test as compared to the participants in the control group. The intervention group also spent a statistically significant shorter time to recall keywords in the oral recall test in comparison to the control group.
CONCLUSION: The story-based audiovisual mnemonics method is more effective than the conventional text-reading method in promoting memory retention among medical students.
METHODS: In this study, we built a new model (Asian Risk Calculator) for estimating the likelihood of carrying a pathogenic variant in BRCA1 or BRCA2 gene, using germline BRCA genetic testing results in a cross-sectional population-based study of 8,162 Asian patients with breast cancer. We compared the model performance to existing mutation prediction models. The models were evaluated for discrimination and calibration.
RESULTS: Asian Risk Calculator included age of diagnosis, ethnicity, bilateral breast cancer, tumor biomarkers, and family history of breast cancer or ovarian cancer as predictors. The inclusion of tumor grade improved significantly the model performance. The full model was calibrated (Hosmer-Lemeshow P value = .614) and discriminated well between BRCA and non-BRCA pathogenic variant carriers (area under receiver operating curve, 0.80; 95% CI, 0.75 to 0.84). Addition of grade to the existing clinical genetic testing criteria targeting patients with breast cancer age younger than 45 years reduced the proportion of patients referred for genetic counseling and testing from 37% to 33% (P value = .003), thereby improving the overall efficacy.
CONCLUSION: Population-specific customization of mutation prediction models and clinical genetic testing criteria improved the accuracy of BRCA mutation prediction in Asian patients.
METHODS: Mutation testing was performed on germline DNA (n=15 768) using targeted sequencing panels. The functional impact of missense variants was tested in mouse embryonic stem cell based functional assays.
RESULTS: PTVs in PALB2 were found in 0.73% of breast cancer patients and 0.14% of healthy individuals (OR=5.44; 95% CI 2.85 to 10.39, p<0.0001). In contrast, rare missense variants in PALB2 were not associated with increased risk of breast cancer. Whereas PTVs were associated with later stage of presentation and higher-grade tumours, no significant association was observed with missense variants in PALB2. However, two novel rare missense variants (p.L1027R and p.G1043V) produced unstable proteins and resulted in a decrease in homologous recombination-mediated repair of DNA double-strand breaks.
CONCLUSION: Despite genetic and lifestyle differences between Asian and other populations, the population prevalence of PALB2 PTVs and associated relative risk of breast cancer, are similar to those reported in European populations.