In Huntington's disease (HD), striatal projection neurons (SPNs) degenerate during midlife; the core biological question involves how the disease-causing DNA repeat (CAG) in the huntingtin (HTT) gene leads to neurodegeneration after decades of biological latency. We developed a single-cell method for measuring this repeat's length alongside genome-wide RNA expression. We found that the HTT CAG repeat expands somatically from 40-45 to 100-500+ CAGs in SPNs.
View Article and Find Full Text PDFA hemangioma of the mitral valve and aortomitral curtain was incidentally discovered in an adolescent. The lesion was surgically excised, and the mitral valve was reconstructed with complete preservation of valvular function. Pertinent principles of multimodality imaging-based diagnosis and nuances of operative management of this rare, vascular tumor are discussed.
View Article and Find Full Text PDFBackground And Objectives: Despite screening procedures, a few blood donors confirm positive for transfusion-transmissible infections and are deferred. Effective notification of laboratory results is essential to ensure that donors are advised of confirmed results and to seek medical care. Here we report results from post-notification interviews of Canadian Blood Services donors.
View Article and Find Full Text PDFThis article presents the rationale, challenges, and adaptive strategies employed during the initiation and execution of the arteriovenous (AV) access trial-a multicenter randomized controlled trial (RCT) comparing AV fistulas and AV grafts for hemodialysis in older adults with major comorbidities. Motivated by shifts in epidemiologic landscapes and evolving guidelines moving away from a fistula-first approach and to more patient-centric approaches, the objective of this randomized controlled trial was to fill critical knowledge gaps in determining the optimal vascular access for this complex patient population. We outline the challenges encountered in patient recruitment along with measures employed to overcome these obstacles in recruitment.
View Article and Find Full Text PDF