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Bi-ventricular elastic material parameters estimation using 3D CMR myocardial strains in rheumatic heart disease patients.

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Division of Cardiology, Department of Medicine, University of Cape Town, Cape Town, South Africa; Cape Universities Body Imaging Centre, Faculty of Health Sciences, University of Cape Town, South Africa; South African Medical Research Council Extramural Unit on Intersection of Noncommunicable Diseases and Infectious Diseases. Electronic address:

Understanding the elastic material behavior of myocardium during the diastolic phase is critical for evaluating cardiac function and improving treatments for diastolic abnormalities. This study introduces a novel multi-objective optimization framework that incorporates both strain and volume measurements to enhance the accuracy of myocardial property assessments in Rheumatic Heart Disease (RHD) patients and healthy controls. By employing global volume and strain measurements instead of segmented strains from the sixteen AHA regions, we achieve a robust alignment with the Klotz curve across all groups, indicating an accurate simulation of end-diastolic pressure-volume relationships (EDPVRs).

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Objective: The objective of this study was to rigorously investigate and elucidate the genetic mechanisms underlying the formation of the RH blood group in a specific case and to systematically analyse the RH blood group genes among the family members of the proband.

Methods: Serological methods were used to determine the RH blood group phenotype of the proband. To elucidate the underlying genetic mechanism responsible for the RH phenotype, a comprehensive approach was undertaken, including RHCE genotyping, sequencing of RHD and RHCE genes, and exon sequencing of RHAG.

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Background: The Rh blood group system (ISBT004) is encoded by two homologous genes, RHD and RHCE. Polymorphism in these two genes gives rise to 56 antigens, which are highly immunogenic and clinically significant. This study extended previous work on the establishment of RHD allele specific reference sequences using next generation sequencing (NGS) with the Ion Personal Genome Machine (Ion PGM) to sequence the complete RHCE gene.

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