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Global and regional cardiac magnetic resonance feature tracking left ventricular strain analysis in assessing early myocardial disease in β thalassemia major patients

J Cardiovasc Imaging. 2024 Aug 3;32(1):18. doi: 10.1186/s44348-024-00026-1. ABSTRACT BACKGROUND: Cardiac magnetic resonance imaging (CMR) is the modality of choice for quantification of myocardial iron …

The implementation of EMI-Heart, a family-tailored early motor intervention in infants with complex congenital heart disease, in practice: a feasibility RCT

Pilot Feasibility Stud. 2024 Aug 2;10(1):105. doi: 10.1186/s40814-024-01532-1. ABSTRACT BACKGROUND: Children with congenital heart disease (CHD) who undergo open-heart surgery are at risk of developmental …

Demographic characteristics, diagnostic challenges, treatment patterns, and caregiver burden of mitochondrial diseases: a retrospective cross-sectional study

Orphanet J Rare Dis. 2024 Aug 2;19(1):287. doi: 10.1186/s13023-024-03289-5. ABSTRACT BACKGROUND: This study aimed to explore the demographic characteristics, diagnostic challenges, treatment patterns, and caregiver …

Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless

Orphanet J Rare Dis. 2024 Aug 2;19(1):288. doi: 10.1186/s13023-024-03297-5. ABSTRACT BACKGROUND: Significant recent efforts have facilitated increased access to clinical genetics assessment and genomic sequencing …