A 62-year-old recreational cyclist presented with transient loss of consciousness and common electrocardiographic findings. Despite absence of left ventricular hypertrophy, multidisciplinary evaluation and a positive family history led to the diagnosis of non-classical Fabry disease. This case emphasizes the added value of multidisciplinary analysis of nonspecific findings to diagnose a rare disease.
View Article and Find Full Text PDFBackground: Advancing age and chronic kidney disease (CKD) are risk factors for polypharmacy. Polypharmacy is associated with negative healthcare outcomes. Deprescribing, the systematic rationalization of potentially inappropriate medications, is a proposed way of addressing polypharmacy.
View Article and Find Full Text PDFUnited European Gastroenterol J
December 2024
Background: Individuals carrying a germline CDKN2A pathogenic variant (PV) are at a high risk of developing pancreatic ductal adenocarcinoma. Risk stratification could allow tailored surveillance.
Objective: To develop a Fine-Gray prediction model for the risk of PDAC in carriers of a CDKN2A PV.
Background: Prognostic uncertainty is a recurring theme among patients with chronic kidney disease (CKD). We developed a survey to explore whether CKD patients want to know more about their future, and if so, which topics they prioritize. In addition, we explored differences between several subgroups.
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