Instituto de Biomedicina de Sevilla

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...

Hospital-linked and community-based viral hepatitis screening among Romanian migrants in Seville: A feasibility study

Introduction Romanian migrants may be at increased risk of viral hepatitis because many originate from countries with intermediate or high endemicity. Targeted, culturally adapted screening strategies are therefore needed to improve case finding and prevention. Our aim was to exp...

Artificial intelligence for clinical data extraction from EHRs in breast cancer trials: the MIRROR study

Manual data entry and curation is the most used method of data collection for real world evidence and clinical trials but is a time-consuming task associated with significant human effort and transcription mistakes. MIRROR is a retrospective study that compared manual data captur...

Health utilities in individuals with alpha-1 antitrypsin deficiency with and without COPD from the EARCO registry

Background Data on health utilities in Alpha-1 antitrypsin deficiency (AATD) are scarce. This study aimed to evaluate health-related quality of life (HRQoL) using the EQ-5D in a cohort of AATD Pi*ZZ individuals from the European AATD Research Collaboration (EARCO) registry and to...

Impulsivity in cluster headache: a case–control genetic association study

Impulsivity has received limited attention in cluster headache (CH), despite growing evidence of a broader behavioral phenotype in the disorder. We aimed to compare impulsivity between patients with CH and healthy controls and to explore associations between selected candidate ge...

Coated or chewable Aspirin and a hybrid air pollution mitigation strategy in patients with atherosclerotic disease: Rationale and Design of the COATED-AIR Randomized Trial.

BACKGROUND: Although enteric-coated aspirin is widely used instead of chewable formulations in patients with atherosclerotic cardiovascular diseases (ASCVD), its effects on cardiovascular and gastrointestinal outcomes remain uncertain. Separately, air pollution is a driver of car...

Territorial inequities in access to essential medicines for neglected tropical diseases in a decentralised European health system: a nationwide assessment in Spain

Abstract Background Neglected tropical diseases (NTDs) represent an increasing but often overlooked challenge for European health systems owing to international mobility, migration, travel, and climate-related changes in disease ecology. Although effective treatments exist for mo...

Adenosine Deaminase-Mediated Purine Dysfunction Leads to DNA Repair Inhibition and Senescence in Sporadic Amyotrophic Lateral Sclerosis

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterised by the death of motor neurons leading to paralysis and death generally 3–5 years post-symptom onset. ALS is a cell- and non-cell-autonomous disease, with glia such as astrocytes influencing disease p...

Aprepitant, a Neurokinin-1 Receptor Antagonist, as a Disruptive Drug for the Treatment of Pediatric Cancer

Although advances in pediatric oncology have resulted in cure rates exceeding 80% among children with cancer, progress in survival outcomes has begun to plateau in recent years. Mortality in this population remains largely associated with aggressive disease features, particularly...

Whole-genome sequencing of Reed-Sternberg cells identifies outcome determinants in Hodgkin lymphoma

Abstract Classical Hodgkin lymphoma (cHL) is a B-cell-derived malignancy characterized by rare Hodgkin and Reed–Sternberg (HRS) cells within an extensive inflammatory microenvironment. Although most patients achieve durable remission with first-line therapy, a subset relapse or e...

Myeloid-Derived Suppressor Cells (MDSCs) in Cardiovascular Risk of Obesity-Associated Diabetes

The dysregulation of immune homeostasis and the persistence of chronic, low-grade inflammation represent core pathophysiological drivers governing the onset and progression of metabolic and cardiovascular disorders. Myeloid-derived suppressor cells (MDSCs) comprise a highly heter...

Cord blood DNA methylation differences associated with gestational diabetes and partial consistency with maternal methylation patterns

Gestational diabetes mellitus (GDM) increases offspring cardiometabolic risk, potentially through intrauterine epigenetic programming. We aimed to characterize GDM-associated DNA methylation differences in cord blood, evaluate their consistency with previously identified maternal...

Redefining liver health: a multidimensional approach to preventing metabolic dysfunction-associated steatohepatitis

Metabolic dysfunction–associated steatohepatitis (MASH) is a rapidly escalating global health challenge driven by complex interactions among metabolic regulation, nutrition, immune signalling, gut microbiota, and environmental exposures. Current disease-centric frameworks priorit...

Orthorexia Nervosa Risk and Psychological Correlates in Higher-Education Dance Students

BACKGROUND: Orthorexia nervosa has been increasingly examined in performance-oriented populations; however, evidence in higher-education dance students remains limited, particularly across multiple dance disciplines and with integrated psychological assessment. OBJECTIVE: To exam...

Lupin protein hydrolysate ameliorates MASLD: identification and in silico validation of peptides targeting the KEAP1–NRF2 axis

The rising prevalence of obesity and its comorbidities, including metabolic dysfunction–associated steatotic liver disease (MASLD), requires novel preventive strategies, such as functional foods. Lupinus angustifolius protein hydrolysates (LPH) exhibits potent immunomodulatory an...

Elucidating the mechanism underlying incomplete immune recovery in people living with HIV through CD4⁺ and CD8⁺ T cell multi-omics

A subset of people living with HIV (PLHIV), known as immunological non-responders (INR), fails to achieve adequate CD4⁺ T cell recovery despite viral suppression with antiretroviral therapy (ART). These individuals face an increased risk of adverse clinical outcomes. This study a...

Glycemic Patterns Assessed by Continuous Glucose Monitoring in People with Type 2 Diabetes Treated with Insulin Glargine 100 U/mL in Primary Care: The GPDetect Study

Hypoglycemia is a common complication in people with type 2 diabetes mellitus (T2DM) treated with basal insulin, yet its true prevalence in real-world primary care remains underexplored. This study used blinded continuous glucose monitoring (CGM) to assess glycemic patterns in pa...