For the efficient delivery of a cell therapy a treatment must be provided rapidly, at clinical scale, contain a sufficient active cellular component (biomass), and adhere to a multitude of regulatory requirements. Cryopreservation permits many of these demands to be met more readily. Here we present the cryopreservation and recovery of large volume (2.
View Article and Find Full Text PDFA genetic diagnosis of primary cardiomyopathies can be a long-unmet need in patients with complex phenotypes. We investigated a three-generation family with cardiomyopathy and various extracardiac abnormalities that had long sought a precise diagnosis. The 41-year-old proband had hypertrophic cardiomyopathy (HCM), left ventricular noncompaction, myocardial fibrosis, arrhythmias, and a short stature.
View Article and Find Full Text PDFPurpose: Blood sampling for diagnostic testing causes blood loss. Small-volume tubes have the same cost, dimensions, and blood-draw techniques as standard-volume tubes, and are compatible with laboratory equipment; however, they are not commonly used. We sought to assess the feasibility of a stepped-wedge cluster trial to determine whether small-volume tubes reduce transfusion compared with standard-volume tubes in intensive care unit (ICU) patients.
View Article and Find Full Text PDFVariants of the gene have been associated with a number of primary cardiac conditions, including left ventricular noncompaction cardiomyopathy (LVNC). Most cases of -related diseases are associated with such variant types as missense substitutions and in-frame indels. Thus, truncating variants in (tv) and associated mechanism of haploinsufficiency are usually considered not pathogenic in these disorders.
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