Hospital Universitario de Burgos

Diagnostic Yield of Expanded Multigene Testing in Hereditary Polyposis Syndromes: Functional Characterization of Clinically Relevant Variants

Abstract Background/Aim: Hereditary polyposis syndromes comprise a genetically heterogeneous group of disorders characterized by multiple gastrointestinal polyps and an increased risk of colorectal cancer (CRC). Although pathogenic variants in APC and MUTYH account for a substant...

Genomic and clinical landscape of RAS mutations in acute myeloid leukemia

RAS mutations are recurrent in acute myeloid leukemia (AML); yet, their genomic and clinical landscape remain poorly characterized. We analyzed centralized molecular profiling data in 8,553 patients with newly diagnosed AML. Of these, 1,775 (21%) harbored RAS mutations: NRAS in 1...

Association Between the GMI / HbA1c Ratio and Microvascular Complications in Type 1 Diabetes: A Multicenter Cross‐Sectional Study

ABSTRACT Objective To clarify whether the glucose management indicator (GMI)/glycated haemoglobin (HbA1c) ratio (GMI/HbA1c ratio) is an independent predictor of microvascular complications in Type 1 diabetes (T1D). Design and Methods Multicentre, cross‐sectional, observational st...

Three clinical and immunological phenotypes of systemic lupus erythematosus onset identified through clustering analysis: data from the RELES registry

Abstract Background Systemic lupus erythematosus (SLE) shows heterogeneous clinical expression at onset, complicating early characterisation and risk assessment. We aimed to identify SLE phenotypes emerging after diagnosis and assess their clinical relevance. Methods We analysed...

Predicting SILENT after lithium poisoning: a multicenter cohort study and pragmatic risk stratification model

INTRODUCTION: The Syndrome of Irreversible Lithium-Effectuated Neurotoxicity (SILENT) is a rare but potentially devastating complication of lithium poisoning. Current evidence rests on case reports and small series, leaving its true incidence, risk factors, and follow-up tools po...