Patients with rare conditions often experience substantial delays between presentation and diagnosis, and some remain undiagnosed. In this Perspective, we outline the many challenges in diagnosing rare conditions in the modern clinical context. We review relevant concepts of diagnostic reasoning as they relate to rare conditions.
View Article and Find Full Text PDFMass spectrometry-based sample multiplexing with isobaric tags permits the development of high-throughput and precise quantitative biological assays with proteome-wide coverage and minimal missing values. Here, we nearly doubled the multiplexing capability of the TMTpro reagent set to a 35-plex through the incorporation of one deuterium isotope into the reporter group. Substituting deuterium frequently results in suboptimal peak coelution, which can compromise the accuracy of reporter ion-based quantification.
View Article and Find Full Text PDFBackground: Sexually transmitted infections (STIs) are common in young adults in Canada and their prevalence is rising. Assessing sexual health knowledge among young adults is essential for developing effective STI education strategies. However, there is limited research on the sexual health knowledge of Canadian university athletes, who have increased risks of STIs.
View Article and Find Full Text PDFWhile voltage-gated potassium channels have critical roles in controlling neuronal excitability, they also have non-ion-conducting functions. Kv8.1, encoded by the KCNV1 gene, is a 'silent' ion channel subunit whose biological role is complex since Kv8.
View Article and Find Full Text PDF