The case of a 54 year old man with Fabry's disease and extensive jejunal and colonic diverticulosis causing colonic stricture is presented. Histological examination of the resected colon revealed evidence of ceramide trihexose deposition in the myenteric nerve plexus. Colonic involvement in Fabry's disease has not been reported before.
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http://dx.doi.org/10.1136/pgmj.67.788.584 | DOI Listing |
Urologie
January 2025
Universitätsklinik für Urologie, Universität Bern, Inselspital Bern, Bern, Schweiz.
Background: Recent studies have also shown that clinical monitoring of quality of life (HRQoL) helps to recognize kidney transplant failure at an early stage.
Objectives: Given the potential of improving HRQoL for the long-term outcomes of kidney transplantation, we conducted a rapid review of the last 5 years of quality of life evaluation after adult allogeneic kidney transplantation.
Materials And Methods: A rapid evidence analysis was carried out using a literature search in MEDLINE in the period 2019-2024.
Kardiol Pol
January 2025
Department of Cardiology and Electrotherapy, Silesian Center for Heart Diseases, Faculty of Medical Sciences in Zabrze, Medical University of Silesia, Katowice, Poland.
Circ Cardiovasc Imaging
January 2025
Multimodality Cardiac Imaging Section, IRCCS Policlinico San Donato, Milan, Italy (L.T., G.D., M.L., A.C.).
J Magn Reson Imaging
January 2025
ImageWorks LLC, Shaker Heights, Ohio, USA.
Stem Cell Res
January 2025
Department of Orthopedic Surgery, The First Affiliated Hospital of Shandong First Medical University, Ji'nan 250014 Shandong, China; Biomedical Sciences College, Shandong Medicinal Biotechnology Centre, Shandong First Medical University& Shandong Academy of Medical Sciences, Ji'nan 250062 Shandong, China; Key Lab for Biotech-Drugs of National Health Commission, Ji'nan 250062 Shandong, China; Key Lab for Rare & Uncommon Diseases of Shandong Province, Ji'nan 250062 Shandong, China. Electronic address:
Fabry disease (FD) is a systemic disease in which globotriaosylceramide and other naturally occurring glycosphingolipid accumulate in various tissues throughout the body due to mutation of α-galactosidase A (GLA). These induced pluripotent stem cells (iPSCs) were generated from a 10-year-old male patient's urine carrying the GLA c.1080_1082del Fabry disease mutation.
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