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Dissemination of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in healthcare institutions affects both patients and health-care workers (HCW), as well as the institutional capacity to provide essential health services. Here, we investigated an outbreak of SARS-CoV-2 in a "non-COVID-19" hospital ward unveiled by massive testing, which challenged the reconstruction of transmission chains. The contacts network during the 15-day period before the screening was investigated, and positive SARS-CoV-2 RNA samples were subjected to virus genome sequencing. Of the 245 tested individuals, 48 (21 patients and 27 HCWs) tested positive for SARS-CoV-2. HCWs were mostly asymptomatic, but the mortality among patients reached 57.1% (12/21). Phylogenetic reconstruction revealed that all cases were part of the same transmission chain. By combining contact tracing and genomic data, including analysis of emerging minor variants, we unveiled a scenario of silent SARS-CoV-2 dissemination, mostly driven by the close contact within the HCWs group and between HCWs and patients. This investigation triggered enhanced prevention and control measures, leading to more timely detection and containment of novel outbreaks. This study shows the benefit of combining genomic and epidemiological data for disclosing complex nosocomial outbreaks, and provides valuable data to prevent transmission of COVID-19 in healthcare facilities.

The high prevalence of polypharmacy and potentially inappropriate medications in the elderly makes them a vulnerable group to adverse drug events. Deprescribing is the medication review plus cessation of potentially inappropriate medications with a health professional's help. Several barriers and enablers influence it, and its knowledge can help health professionals. The objective of the study is to understand the Portuguese elderly's attitudes and ideas about polypharmacy and deprescription. We made a qualitative approach through a focus group with elderly patients from an adult daycare center with transcription and codification into themes and subthemes based on previous frameworks. Eleven elderly patients participated in the focus group. The identified elderly's ideas and attitudes could be clustered into five main barriers: appropriateness, process, influences, fear, and habit, and five main enablers: appropriateness, process, influences, dislike, and cost. Although the elderly's strong beliefs regarding medication benefits and necessity prevail, contrary opinions regarding lack of benefit/necessity, drug interaction/side effects, and medication complexity/number may influence their willingness to deprescribe positively. The health professional's influence and the patient's trust in their doctors were perceived essential for decision-making as either a barrier or an enabler. The medication benefit was a big barrier, and side effects/drug interaction experiences are an important enabler. [ABSTRACT FROM AUTHOR]

Simple Summary: The pattern of Breast Cancer Genes 1 (BRCA1) and 2 (BRCA2) mutations in Hereditary Breast Ovarian Cancer (HBOC) families varies widely among different populations. About 30% of Portuguese HBOC can be associated with inherited cancer caused by BRCA1 or BRCA2 mutations. Three variants were identified (c.156_157insAlu in the BRCA2 gene and c.3331_3334del and c.2037delinsCC in the BRCA1 gene), accounting for about 50% of all Portuguese pathogenic mutations. Characterising the mutational spectrum in specific populations allows for a more efficient and cost-saving screening approach. Germline pathogenic variants in the Breast Cancer Genes 1 (BRCA1) and 2 (BRCA2) are responsible for Hereditary Breast and Ovarian Cancer (HBOC) syndrome. Genetic susceptibility to breast cancer accounts for 5–10% of all cases, phenotypically presenting with characteristics such as an autosomal dominant inheritance pattern, earlier age of onset, bilateral tumours, male breast cancer, and ovarian tumours, among others. BRCA2 pathogenic variant is usually associated with other cancers such as melanoma, prostate, and pancreatic cancers. Many rearrangements of different mutations were found in both genes, with some ethnic groups having higher frequencies of specific mutations due to founder effects. Despite the heterogeneity of germline BRCA1/BRCA2 mutations in Portuguese breast or/and ovarian cancer families, the first described founder mutation in the BRCA2 gene (c.156_157insAlu) and two other variants in the BRCA1 gene (c.3331_3334del and c.2037delinsCC) contribute to about 50% of all pathogenic mutations. Furthermore, the families with the BRCA1 c.3331_3334del or the c.2037delinsCC mutations share a common haplotype, suggesting that these may also be founder mutations in the Portuguese population. Identifying specific and recurrent/founder mutations plays an important role in increasing the efficiency of genetic testing since it allows the use of more specific, cheaper and faster strategies to screen HBOC families. Therefore, this review aims to describe the mutational rearrangements of founder mutations and evaluate their impact on the genetic testing criteria for HBOC families of Portuguese ancestry. [ABSTRACT FROM AUTHOR]