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Comparison of personality and psychopathology in patients with Fabry disease and patients with end-stage renal disease: a preliminary study.
Front Psychiatry
February 2025
Vascular Surgery and Organ Transplant Unit, Department of General Surgery and Medical-Surgical Specialties, University Hospital of Catania, Catania, Italy.
Background: The present study aimed to investigate personality characteristics and psychopathological symptoms in patients with Fabry disease (FD) vs a group of individuals with end-stage renal disease (ESRD).
Methods: A total of 36 patients, equally divided into patients with FD and patients with ESRD (control group), were administered the following tools: the Millon Clinical Multiaxial Inventory III (MCMI-III) to evaluate personality psychopathology and the Symptom Checklist-90-R (SCL-90-R) to assess symptoms of psychopathology.
Results: Significantly higher levels of Schizoid, Depressive, and Negativistic personality traits emerged in FD patients.
Lectin-Based Substrate Detection in Fabry Disease Using the Gb3-Binding Lectins StxB and LecA.
Int J Mol Sci
March 2025
Faculty of Biology, University of Freiburg, Schänzlestraße 1, 79104 Freiburg, Germany.
Fabry disease, the second most common lysosomal storage disorder, is caused by a deficiency of α-galactosidase A (α-Gal A), which leads to an accumulation of glycosphingolipids (GSL), mainly globotriaosylceramide (also known as Gb3). This aberrant GSL metabolism subsequently causes cellular dysfunction; however, the underlying cellular and molecular mechanisms are still unknown. There is growing evidence that damage to organelles, including lysosomes, mitochondria, and plasma membranes, is associated with substrate accumulation.
View Article and Find Full Text PDFCornea Oculomics: A Clinical Blueprint for Extending Corneal Diagnostics and Artificial Intelligence in Systemic Health Insights.
Diagnostics (Basel)
March 2025
Department of Ophthalmology, Blanton Eye Institute, Houston Methodist Hospital, Houston, TX 77030, USA.
Oculomics is an emerging field that leverages ophthalmic imaging data to identify biomarkers of systemic disease, facilitating early diagnosis and risk stratification. Despite its growing recognition, gaps remain in the literature regarding the clinical applications of oculomics. Various systemic diseases-including metabolic disorders (e.
View Article and Find Full Text PDFStatus and frontiers of Fabre disease.
Orphanet J Rare Dis
March 2025
Center for Clinical Pharmacy, Cancer Center, Department of Pharmacy, Zhejiang Provincial People's Hospital (Affiliated People's Hospital, Hangzhou Medical College), Hangzhou, China.
Fabry disease is characterized by an X sex chromosome gene mutation caused by α-galactosidase A deficiency, resulting in the accumulation of globotriaosylceramide and globotriaosylsphingosine in various organs, which induces end-organ lesions. In Fabry disease, enzymes with lost or decreased activity in the body are replaced by exogenous supplementation of normal-function α-galactosidase A. Currently, agalsidase α and agalsidase β are widely used for ERT therapy.
View Article and Find Full Text PDFFabry disease (FD) is a lysosomal disorder due to alpha-galactosidase-A enzyme deficiency, accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3) which lead to proinflammatory effects. Males develop progressive hypertrophic cardiomyopathy (HCM) followed by fibrosis; females develop nonconcentric hypertrophy and/or early fibrosis. The inflammatory response to Gb3/lyso-Gb-3 accumulation is one of the suggested pathogenic mechanisms in FD cardiomyopathy when the secretion of inflammatory and transforming growth factors with infiltration of lymphocytes and macrophages into tissue promotes cardiofibrosis.
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