Background: Coronary heart disease (CHD) remains a leading cause of mortality and disability worldwide. Approximately half of the patients who have had a prior hospital admission for CHD will have a recurrent coronary event, with the majority of these occurring within 12 months. Despite well-established evidence-based therapies, medication non-adherence is highly prevalent and reasons for medication non-adherence are poorly understood.
View Article and Find Full Text PDFBackground: Untreated patients affected by hereditary fructose intolerance (HFI) present an abnormal transferrin (Tf) glycosylation pattern suggestive of N-hypoglycosylation. Analysis of defects in N-glycosylation is possible by analysis of serum sialotransferrin (sialoTf) pattern. The sialoTf profile is a valuable tool to facilitate the diagnosis of HFI.
View Article and Find Full Text PDFPhysical activity participation is critical for optimal physical, psychological, and cognitive health in children and adults living with congenital heart disease (CHD). Majority of the general population are not sufficiently active, and with the added psychological, physical, and socioeconomic barriers faced by individuals with CHD, it is unsurprising that many people living with CHD do not meet the recommendations for physical activity either. The aim of this review is to outline lifelong physical activity barriers faced by individuals living with CHD and provide age-appropriate strategies that can be used to ensure the development of long-term positive physical activity behaviours.
View Article and Find Full Text PDFBackground: Long-chain fatty acid oxidation disorders (LC-FAOD) are rare and potentially life-threatening diseases that cause deficient energy production and accumulation of toxic metabolites. Despite dietary management, adherence to maximum fasting guidelines, restricted long-chain triglyceride intake and supplementation with medium-chain triglyceride (MCT) oil (current standard of care), most patients experience recurrent decompensation episodes that can require hospitalisation. Herein, we analysed the effectiveness and safety of triheptanoin (a highly purified, synthetic medium odd-chain triglyceride) treatment in a cohort of Italian patients with LC-FAOD.
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