A generic assay for the identification of splicing variants that induce nonsense-mediated decay in Pompe disease.

DNA variants affecting mRNA expression and processing in genetic diseases are often missed or poorly characterized. We previously reported a generic assay to identify variants that affect mRNA expression and splicing in Pompe disease, a monogenic disorder caused by deficiency of acid α-glucosidase (GAA). However, this assay could miss mRNA that is subjected to degradation.

Transfusion outcome for volume- and plasma-reduced platelet concentrates for pediatric patients.

Background And Objectives: Plasma reduction in platelet concentrate (PC) products has been reported to prevent large volume load and transfusion-related adverse reactions (TRARs). However, volume reduction might be associated with a poor transfusion response because of a deterioration in platelet (PLT) quality. Because PLT quality control and transfusion responses for recently washed PCs using PLT additive solutions are superior, we investigated the clinical safety and transfusion efficacy of volume-reduced washed PCs in pediatric patients.

Investigation of factors associated with allergic transfusion reaction due to platelet transfusion and the efficacy of platelets resuspended in BRS-A in adult patients.

Background: Although allergic transfusion reactions (ATRs) resulting from platelet concentrate (PC) are a common adverse reaction, the mechanism underlying ATRs has not been fully elucidated. Plasma-replaced PC suspended in bicarbonate Ringer's solution and anticoagulant citrate dextrose solution A (RPC-B) is effective for preventing ATRs in children in Japan; however, there is not enough evidence in adult populations.

Study Design And Methods: We conducted a retrospective analysis focused on factors associated with ATRs developing from PC transfusions in adult patients in a single institution between 2015 and 2018.