Clínica MEDS (Chile)

Cardiometabolic multimorbidity phenotypes and their associations with functional and cognitive outcomes in older Chilean adults: findings from the Chilean national health survey

Abstract Background Multimorbidity is highly prevalent among older adults and is associated with functional decline, disability, cognitive impairment, and increased healthcare burden. However, traditional disease-count approaches may fail to capture the heterogeneity of multimorb...

The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome

Abstract Background Pathogenic variants in AGO2 ,encoding a central component of the RNA-induced silencing complex (RISC), cause the neurodevelopmental disorder Lessel-Kreienkamp syndrome (LESKRES). The variant spectrum and associated molecular mechanisms underlying phenotypic va...