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Diagnostic and prognostic perspectives of fabry disease via fiber evanescent wave spectroscopy advanced by machine learning.
Biosens Bioelectron
January 2025
Institute of Physics, College of Natural Sciences, University of Rzeszow, Rzeszow, Poland.
Fabry disease (FD) is a rare disorder resulting from a genetic mutation characterized by the accumulation of sphingolipids in various cells throughout the human body, leading to progressive and irreversible organ damage, particularly in males. Genetically-determined deficiency or reduced activity of the enzyme (alpha - Galactosidase; α-Gal) leads to the accumulation of sphingolipids in the lysosomes of various cell types, including the heart, kidneys, skin, eyes, central nervous system, and digestive system, triggering damage, leading to the failure of vital organs, and resulting in progressive disability and premature death. FD diagnostics currently depend on costly and time-intensive genetic tests and enzymatic analysis, often leading to delayed or inaccurate diagnoses, which contribute to rapid disease progression.
View Article and Find Full Text PDFNASCI case of the month: "pseudo normalization of T1 values in Anderson-Fabry disease".
Int J Cardiovasc Imaging
January 2025
Michigan Medicine, University Hospital, Floor B1 Reception C 1500 E Medical Center Dr SPC 5030, Ann Arbor, MI, 48109, USA.
Anderson-Fabry disease (AFD) is a X-linked lysosomal storage disorder that can result in cardiac dysfunction including left ventricular hypertrophy (LVH) and conduction abnormalities (Frontiers in cardiovascular medicine vol. 10) [1]. The manifestations of AFD in women may be isolated to one organ and occur late in life due to the random inactivation of the X chromosome.
View Article and Find Full Text PDFArtificial Intelligence in Nephrology: Clinical Applications and Challenges.
Kidney Med
January 2025
Division of Nephrology, Florida State University School of Medicine, Tallahassee, FL.
Artificial intelligence (AI) is increasingly used in many medical specialties. However, nephrology has lagged in adopting and incorporating machine learning techniques. Nephrology is well positioned to capitalize on the benefits of AI.
View Article and Find Full Text PDFGenetic Assessment of Living Kidney Transplant Donors: A Survey of Canadian Practices.
Can J Kidney Health Dis
January 2025
Multiorgan Transplant Program, Division of Nephrology, Department of Medicine, McGill University Health Centre, Montreal, QC, Canada.
Background: Kidney failure is a prevalent condition with tendency for familial clustering in up to 27% of the affected individuals. Living kidney donor (LKD) transplantation is the optimal treatment option; however, in Canada, more than 45% of LKDs are biologically related to their recipients which subjects recipients to worse graft survival and donors to higher future risk of kidney failure. Although not fully understood, this observation could be partially explained by genetic predisposition to kidney diseases.
View Article and Find Full Text PDFAutomated electronic health record-based screening for Fabry disease in unexplained left ventricular hypertrophy (FAPREV-HCM).
Open Heart
January 2025
Department of Internal Medicine I, Universitätsklinikum Würzburg, Würzburg, BY, Germany
Background And Aims: Hypertrophic cardiomyopathy (HCM) has various aetiologies, including genetic conditions like Fabry disease (FD), a lysosomal storage disorder. FD prevalence in high-risk HCM populations ranges from 0.3% to 11.
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