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Background Pathogenic mutation in BRCA genes causes high cancer risk. Identifying the mutation carriers plays key roles in preventing BRCA mutation-related cancer. Population screening has demonstrated its power for comprehensive identification of the mutation carriers. However, it is only recommended for the Ashkenazi Jewish population with high prevalence of three founder mutations, but not for non-Ashkenazi Jewish populations as the cost-effectiveness could be too low due to their lower mutation prevalence and lack of founder mutation. Population screening would not benefit the majority of the human population for BRCA mutation-related cancer prevention. Methods We used population BRCA screening in 6000 residents, 1% of the Macau population, an ethnic Chinese population with unique genetic, linguistic and cultural features, and its BRCA mutation has not been analysed before. Results We called BRCA variants, identified 18 carriers with 14 pathogenic mutations and determined the prevalence of 0.29% in the population (95% CI 0.15% to 0.42%). We compared the testing cost between the Ashkenazi Jewish population, the Sephardi Jewish population and the Macau population, and observed only a few fold differences. Conclusion Our study shows that testing cost is not the most important factor in considering population BRCA screening, at least for the populations in the developed countries/regions, regardless of the status of mutation prevalence and founder mutation. [ABSTRACT FROM AUTHOR]

Abstract Background The influence of maternal levothyroxine treatment during pregnancy remains unclear. This study aimed to evaluate the associations of maternal levothyroxine treatment during pregnancy with the birth and neurodevelopmental outcomes in offspring. Methods This population-based cohort study was conducted among pregnant women using the Hong Kong Clinical Data Analysis and Reporting System. Mother-child pairs in Hong Kong from 2001 to 2015 were included and children were followed up till 2020. We defined the exposure group as mothers who were exposed to levothyroxine during pregnancy. Preterm birth and small for gestational age (SGA) were included as birth outcomes. Attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) were included as neurodevelopmental outcomes. Odds ratios (OR) or hazard ratios (HRs) with a 95% confidence interval (CI) were evaluated to assess the association of gestational levothyroxine use with offspring birth and neurodevelopmental outcomes respectively, using propensity score fine-stratification weighting and a Cox proportional hazards regression model. Results Among 422,156 mother-child pairs, 2125 children were born from mothers exposed to levothyroxine during pregnancy. A significantly increased risk of preterm birth was observed in children with maternal levothyroxine exposure during pregnancy, when compared to mothers who had no history of thyroid-related diagnoses or prescriptions (weighted OR [wOR]: 1.22, 95% CI: 1.07, 1.39). Similarly, an increased risk of preterm birth was found among children of gestational levothyroxine users, when compared to children of mothers who had used levothyroxine before but stopped during pregnancy (wOR: 2.16, 95% CI: 1.09, 4.25). Sensitivity analysis, by excluding mothers exposed to psychotropic or antiepileptic medications before or during pregnancy, also indicated a similar increased risk of preterm birth regarding the gestational use of levothyroxine (wOR: 1.26, 95% CI: 1.10, 1.45). No significant association was observed for the risk of SGA, ADHD, and ASD. Conclusions There is no evidence that gestational use of levothyroxine is associated with SGA, ADHD, or ASD in offspring. Gestational levothyroxine treatment is associated with a higher risk of preterm birth. Such risk might be confounded by the underlying maternal thyroid disease itself, however, we cannot completely exclude the possible effect of gestational L-T4 treatment on offspring preterm birth. Our findings provided support to the current guidelines on the cautious use of levothyroxine treatment during pregnancy.

An all-volunteer organization called the Opensource Opencourseware Prototype System (OOPS), headquartered in Taiwan, was initially designed to translate open source materials from MIT OpenCourseWare (OCW) site into Chinese. Given the recent plethora of open educational resources (OER), such as the OCW, the growing use of such resources by the world community, and the emergence of online global education communities to localize resources such as the OOPS, a key goal of this research was to understand how the OOPS members negotiate meanings and form a collective identity in this cross-continent online community. To help with our explorations and analyses within the OOPS translation community, several core principles from Etienne Wenger's concept of Communities of Practice (COP) guided our analyses, including mutual engagement, joint enterprise, shared repertoire, reification, and overall identity of the community. In this paper, we detail how each of these key components was uniquely manifested within the OOPS. Three issues appeared central to the emergence, success, and challenges of the community such as OOPS: 1) strong, stable, and fairly democratic leadership; 2) participation incentives; and 3) online storytelling or opportunities to share one's translation successes, struggles, and advice within an asynchronous discussion forum. While an extremely high level of enthusiasm among the OOPS members underpinned the success of the OOPS, discussion continues on issues related to quality control, purpose and scope, and forms of legitimate participation. This study, therefore, provides an initial window into the emergence and functioning of an online global education COP in the OER movement. Future research directions related to online global educational communities are discussed. [ABSTRACT FROM AUTHOR]