Fundación Universitaria Sanitas

Neuropalliative home care for sporadic Creutzfeldt-Jakob disease: a case report using validated multidimensional assessment tools

Abstract Creutzfeldt-Jakob disease is a rare, fatal prion disorder characterised by rapid progression and profound suffering for patients and their families. In this context, neuropalliative care plays a critical role. The use of standardised, disease-specific assessment tools fo...

When 2D is not enough: 3D transesophageal echocardiography revealing a multifenestrated atrial septal defect

Fenestrated atrial septal defects represent a complex anatomical variant characterized by multiple perforations within a thinned interatrial septum. Although frequently asymptomatic, these defects may remain undetected or be underestimated by conventional 2D echocardiography [ 1...

Phenotypic Complexity and Diagnostic Utility of Exome Sequencing in ASD: Real-World Insights from Colombia

Autism spectrum disorder (ASD) is a genetically heterogeneous condition; however, genomic data from Latin American populations remain limited. We investigated the molecular and phenotypic landscape of ASD in 916 Colombian patients who underwent whole-exome sequencing (WES) betwee...

Longitudinal shifts in diabetes care delivery during the COVID-19 pandemic: implications for post-pandemic models of chronic disease management

Abstract Background The COVID-19 pandemic profoundly disrupted chronic disease management, including diabetes care. While early studies described short-term changes in access to care and laboratory monitoring, the long-term evolution of diabetes care delivery remains poorly under...