Publications by authors named "I Fernandez-Cadenas"

Article Synopsis
  • NOTCH3cys variants are common and linked to various small vessel diseases, including early-onset stroke and dementia, but there is no comprehensive staging system to assess their severity.
  • A cohort study created and validated a simple staging system for NOTCH3-SVD by analyzing data from several international cohorts and the UK Biobank, focusing on the impact of these variants on CVD outcomes and cognition.
  • The new system includes 9 disease stages, aiding in understanding the relationship between stages and clinical outcomes like ischemic strokes, cognitive function, and brain damage.
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Background: Ischemic stroke (IS) represents a significant health burden globally, necessitating a better understanding of its genetic underpinnings to improve prevention and treatment strategies. Despite advances in IS genetics, studies focusing on the Spanish population and sex-stratified analyses are lacking.

Methods: A case-control genome-wide association study was conducted with 9081 individuals (3493 IS cases and 5588 healthy controls).

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Background And Objectives: Genome-wide association studies (GWASs) have only 2 loci associated with spontaneous intracerebral hemorrhage (ICH): for lobar and 1q22 for nonlobar ICH. We aimed to discover new loci through an analysis that combines correlated traits (multi-trait analysis of GWAS [MTAG]) and explore a gene-based analysis, transcriptome-wide association study (TWAS), and proteome-wide association study (PWAS) to understand the biological mechanisms of spontaneous ICH providing potential therapeutic targets.

Methods: We use the published MTAG of ICH (patients with spontaneous intraparenchymal bleeding) and small-vessel ischemic stroke.

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Background And Aims: Stroke is the leading cause of adult-onset disability. Although clinical factors influence stroke outcome, there is a significant variability among individuals that may be attributed to genetics and epigenetics, including DNA methylation (DNAm). We aimed to study the association between DNAm and stroke prognosis.

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Background: Cerebral edema (CED) is associated with poorer outcome in patients with acute ischemic stroke (AIS). The aim of the study was to investigate the factors contributing to greater early CED formation in patients with AIS who underwent endovascular therapy (EVT) and its association with functional outcome.

Methods: We conducted a multicenter cohort study of patients with an anterior circulation AIS undergoing EVT.

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