Publications by authors named "M Pieroni"
Article Synopsis
- - Fabry disease (FD) is a rare genetic disorder causing issues in the kidneys, nervous system, and heart, with four treatment options: three enzyme replacement therapies (ERTs) and one pharmacological chaperone.
- - Agalsidase beta and agalsidase alfa improve various organ functions and quality of life, with agalsidase beta possibly being more effective long-term; early treatment is crucial for optimal response.
- - Migalastat benefits patients with specific gene variants by stabilizing kidney function and relieving some symptoms, but its neurological effects are unclear and further research is needed for direct treatment comparisons.
Most acquired and inherited cardiomyopathies are characterized by regional left ventricular involvement and nonischemic myocardial scars, often with a disease-specific pattern. Irrespective of the etiology and pathophysiological mechanisms, myocardial disorders are invariably associated with cardiac fibrosis, which contributes to dysfunction and electrical instability. Accordingly, cardiac magnetic resonance plays a central role in the diagnostic work-up and prognostic risk stratification of cardiomyopathies, particularly with the increasing correlation between genetic background and specific disease phenotype.
View Article and Find Full Text PDFThe intricate signaling network within the central nervous system (CNS) involving -methyl-d-aspartate receptors (NMDARs) has been recognized as a key player in severe neurodegenerative diseases. The indirect modulation of NMDAR-mediated neurotransmission through inhibition of serine racemase (SR)-the enzyme responsible for the synthesis of the NMDAR coagonist d-serine-has been suggested as a therapeutic strategy to treat these conditions. Despite the inherent challenges posed by SR conformational flexibility, a ligand-based drug design strategy has successfully produced a series of potent covalent inhibitors structurally related to amino acid analogues.
View Article and Find Full Text PDFThe Italian Fabry Disease Cardiovascular Registry (IFDCR).
Eur Heart J Qual Care Clin Outcomes
September 2024
Aims: The Italian Fabry Disease Cardiovascular Registry (IFDCR) comprises 50 Italian centres with specific expertise in managing cardiovascular manifestations and complications of patients with Fabry disease (FD). The primary aim of the IFDCR is to examine and improve the clinical care and outcomes of patients with FD by addressing several knowledge gaps in the epidemiology, natural history, genotype-phenotype correlations, diagnosis, and management of this condition, with particular focus on cardiovascular manifestations and complications.
Methods And Results: The IFDCR is an international, longitudinal, multicentre, non-interventional, observational study.