Biallelic pathogenic variants in the inorganic pyrophosphatase 2 (PPA2) gene are a rare but established cause of sudden infant death, which may be precipitated by a pyrexial or viral illness. It has also been associated with sudden death secondary to alcohol ingestion in young adults. We describe the case of a thirteen-month-old female who presented following out-of- hospital cardiac arrest and was subsequently diagnosed with compound, heterozygous pathogenic variants of PPA2.
View Article and Find Full Text PDFThe first search for soft unclustered energy patterns (SUEPs) is performed using an integrated luminosity of 138 fb^{-1} of proton-proton collision data at sqrt[s]=13 TeV, collected in 2016-2018 by the CMS detector at the LHC. Such SUEPs are predicted by hidden valley models with a new, confining force with a large 't Hooft coupling. In events with boosted topologies, selected by high-threshold hadronic triggers, the multiplicity and sphericity of clustered tracks are used to reject the background from standard model quantum chromodynamics.
View Article and Find Full Text PDFThe first search for the Z boson decay to ττμμ at the CERN LHC is presented, based on data collected by the CMS experiment at the LHC in proton-proton collisions at a center-of-mass energy of 13 TeV and corresponding to an integrated luminosity of 138 fb^{-1}. The data are compatible with the predicted background. For the first time, an upper limit at the 95% confidence level of 6.
View Article and Find Full Text PDFAt JADPRO Live 2023, presenters discussed recent updates to clinical practice in metastatic HER2-positive metastatic breast cancer. During the session, they reviewed review recent FDA approvals, the clinical relevance of HER2-low status, and evidence-based practices for managing adverse events associated with novel HER2 agents.
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