Publications by authors named "A Giardini"
Aldehyde dehydrogenase-2 deficiency (ALDH2∗2) found in 36 % of Han Chinese, affects approximately 8 % of the world population. ALDH2 is a mitochondrial key enzyme in detoxifying reactive aldehydes to less reactive forms. Studies demonstrate a potential link between ALDH2∗2 mutation and neurodegenerative diseases.
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- - This study analyzed the long-term outcomes and functional status of patients born with critical aortic stenosis (CAS) who underwent surgical or catheter interventions within their first month of life, reviewing data over a 40-year period.
- - Among the 96 neonates treated, the study found early and late mortality rates of 19.8% and 10%, with survival rates at 10 and 30 years being 70.1% and 68.5%, respectively; however, many survivors experienced reduced heart function and required ongoing medical attention.
- - The findings emphasize the need for long-term follow-up and detailed assessment of cardiac function in CAS patients, as many showed signs of compromised heart health, including issues like severe
Background: Renovascular hypertension (RenoVH) is a cause of hypertension in children. A common cause of RenoVH is renal artery stenosis which acts by reducing blood supply to renal parenchyma and activating the renin-angiotensin-aldosterone axis, often leading to cardiac remodelling. This longitudinal observational study aims to describe occurrence of cardiovascular changes secondary to RenoVH and also any improvement in cardiac remodelling after successful endovascular and/or surgical intervention.
View Article and Find Full Text PDFBackground: The International Classification of Functioning, Disability, and Health (ICF) is growing in importance in cardiac rehabilitation (CR) as the number of elderly comorbid patients increases.
Aim: To classify through the ICF framework a group of post-cardiac surgery (CS) and chronic heart failure (CHF) patients undergoing rehabilitation. Then, to compare the two groups and identify possible factors at admission that could affect ICF evaluations at discharge.
Background: Known genetic causes of congenital heart disease (CHD) explain <40% of CHD cases, and interpreting the clinical significance of variants with uncertain functional impact remains challenging. We aim to improve diagnostic classification of variants in patients with CHD by assessing the impact of noncanonical splice region variants on RNA splicing.
Methods: We tested de novo variants from trio studies of 2649 CHD probands and their parents, as well as rare (allele frequency, <2×10) variants from 4472 CHD probands in the Pediatric Cardiac Genetics Consortium through a combined computational and in vitro approach.