Pulse-cancellation imaging is a novel echocardiographic imaging modality developed for detection of myocardial fibrosis. This technique cancels echocardiographic reflections from the normal myocardium but clearly displays the abnormal tissue. We describe, for the first time, pulse-cancellation echocardiography application in detecting Fabry disease myocardial involvement. We present the case where both pulse-cancellation imaging and cardiac MRI concurrently revealed myocardial deposits in a patient with genotypically confirmed Fabry disease.
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http://dx.doi.org/10.1111/echo.14707 | DOI Listing |
Mol Genet Metab
December 2024
Department of Molecular Medicine and Medical Biotechnology, Medical School, University of Naples Federico II, 80131 Naples, Italy; CEINGE-Biotecnologie Avanzate Franco Salvatore s.c.ar.l., 80145 Naples, Italy. Electronic address:
Background: Newborn screening (NBS) is a simple, non-invasive test that allows for the early identification of genetic diseases within the first days of a newborn's life. The aim of NBS is to detect potentially fatal or disabling conditions in newborns as early as possible, before the onset of disease symptoms. Early diagnosis enables timely treatments and improves the quality of life for affected patients.
View Article and Find Full Text PDFNeurobiol Dis
January 2025
Institute of Physiology, Medical University of Innsbruck, Innsbruck, Austria. Electronic address:
Background: Fabry disease (FD) patients are known to be at high risk of developing neuropsychiatric symptoms such as anxiety, depression and cognitive deficits. Despite this, they are underdiagnosed and inadequately treated. It is unknown whether these symptoms arise from pathological glycosphingolipid deposits or from cerebrovascular abnormalities affecting neuronal functions in the central nervous system.
View Article and Find Full Text PDFOrphanet J Rare Dis
January 2025
Department of Nephrology and Endocrinology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Fabry disease is an X-linked lysosomal storage disorder that causes accumulation of glycosphingolipids in body tissues and fluids, leading to progressive organ damage and life-threatening complications. It can affect both males and females and can be classified into classic or later-onset phenotypes. The disease severity in females ranges from asymptomatic to the more severe, classic phenotype.
View Article and Find Full Text PDFToxics
November 2024
Department of Ocean Engineering and Marine Sciences, Florida Institute of Technology, Melbourne, FL 32901, USA.
Microcystin (MC), a hepatotoxin produced by cyanobacteria, was introduced into the Indian River Lagoon (IRL), Florida, in 2005 through freshwater outflows. Since then, MC has been detected in humans, domestic animals, and wildlife in the lagoon. Potential public health effects associated with MC exposure along the IRL include an increased risk of non-alcoholic liver disease among area residents.
View Article and Find Full Text PDFLife (Basel)
November 2024
Rare, Degenerative and Inflammatory Ocular Diseases Unit, Department of Sense Organs, La Sapienza University, Viale del Policlinico 155, 00161 Rome, Italy.
Fabry disease (FD) is a rare X-linked lysosomal storage disorder with a broad spectrum of clinical manifestations, including severe complications, such as end-stage renal disease, hypertrophic cardiomyopathy, and cerebrovascular disease. Enzyme replacement therapy (ERT), when initiated early, has been shown to reduce the incidence of severe events and slow disease progression. In the classic form, characterized by the absence of α-galactosidase A (α-Gal A) enzyme activity, diagnosis is straightforward.
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