Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree and genomic rare-disease data (94.5% exomes, 5.
View Article and Find Full Text PDFWilderness Environ Med
January 2025
Introduction: Fishhook injuries are a common occurrence among anglers. There are no guidelines for prophylactic antibiotic use after fishhook removal. This study analyzed the management of embedded fishhooks, prophylactic antibiotic use, and complication rate at a Michigan county emergency department to observe whether antibiotic use changes patient outcome.
View Article and Find Full Text PDFR Soc Open Sci
January 2025
In our multicultural and interconnected world, the ability to learn new languages is important. However, there are significant differences in how successfully adults can learn aspects of non-native languages. Given robust relationships between musical ability and native-language processing, musical ability might also contribute to successful second-language acquisition.
View Article and Find Full Text PDFThe amount of methane released to the atmosphere from the Nord Stream subsea pipeline leaks remains uncertain, as reflected in a wide range of estimates. A lack of information regarding the temporal variation in atmospheric emissions has made it challenging to reconcile pipeline volumetric (bottom-up) estimates with measurement-based (top-down) estimates. Here we simulate pipeline rupture emission rates and integrate these with methane dissolution and sea-surface outgassing estimates to model the evolution of atmospheric emissions from the leaks.
View Article and Find Full Text PDFPurpose: Mental health screening is recommended by the US Preventive Services Task Force for all patients in areas where treatment options are available. Still, it is estimated that only 4% of primary care patients are screened for depression. The goal of this study was to evaluate the efficacy of machine learning technology (Kintsugi Voice, v1, Kintsugi Mindful Wellness, Inc) to detect and analyze voice biomarkers consistent with moderate to severe depression, potentially allowing for greater compliance with this critical primary care public health need.
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