Hospital Universitari i Politècnic La Fe

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...

Expired endoscopic devices remain sterile and functional: an international multicentre study challenging current shelf-life criteria

Background and study aims Expired medical devices represent an environmental and economic concern, yet their magnitude and true shelf life remain poorly defined. We aimed to quantify the volume and cost of expired endoscopic devices and evaluate their sterility and functionality...

Structural and metabolic imaging after mechanical thrombectomy for acute ischemic stroke: A hybrid 18F-FDG PET/MRI pilot study

Hybrid 2-[18F]-fluoro-2-deoxy-D-glucose positron emission tomography/magnetic resonance imaging (18F-FDG PET/MRI) enables simultaneous, single-session assessment of structural and metabolic stroke damage. We prospectively studied 10 consecutive patients (6 women; mean age 71.6 ±...

Tools for providing information to patients about high-tech medical resources for treatment of cancer

BACKGROUND AND PURPOSE: High-tech medical resources play an increasingly important role in cancer diagnosis and treatment. However, accessing information about these technologies remains challenging due to their complexity and a lack of clear information pathways to obtain reliab...

Mind the Gap: Disparities in Education on Organ Donation and Transplantation-Results of a Global Survey.

Background: Widely accessible education on organ donation and transplantation (ODT) is a tool to reduce waiting lists, as <10% of transplant needs are met (Global Observatory on Donation and Transplantation). We aimed to assess the current state of access to education on ODT worl...

Acceptance of Organs From Deceased Donors: Results of a Global Survey.

Background: With <10% of transplantation needs being met, one contributing factor may be the potential subjectivity in transplant specialists' acceptance of organs. Such decisions, if influenced by knowledge and/or comfort gaps, warrant intervention. We assessed knowledge and com...

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...

Selective immunoglobulin A deficiency and coeliac disease: Immune response dynamics

Abstract Objective To analyse the serological immune response in paediatric patients with selective immunoglobulin A deficiency (SIgAD) and coeliac disease (CeD), focusing on immunoglobulin G antibody dynamics after starting the gluten‐free diet (GFD). Methods Data from SIgAD pat...

Responsiveness of the Stair Climb Test Across Follow‐Up Periods and Baseline Severity in Knee Osteoarthritis

ABSTRACT Background and Purpose The properties of the Stair Climb Test (SCT) remain to be determined in patients with knee osteoarthritis. Thus, this study aimed to evaluate the responsiveness and clinically meaningful improvement of the SCT across different follow‐up periods and...

Hypoxic Preconditioning Prevents the Neonatal Lung Against Hyperoxia-Induced Ferroptosis Through the Nrf2–CBS Axis

Aims: Hyperoxia-induced oxidative injury contributes to ferroptosis and abnormal lung remodeling in preterm infants receiving oxygen therapy. We previously demonstrated that postnatal hypoxic preconditioning (HP) reduces hyperoxia-induced lung injury in a neonatal mouse model. In...

Clinical outcomes of stereotactic body radiotherapy in oligometastatic disease: a national real-world cohort study

Abstract Purpose We conducted the first multicentre Spanish real-world study assessing the efficacy and safety of stereotactic body radiotherapy (SBRT) in oligometastatic patients treated in routine clinical practice. Methods This retrospective, multicentre observational study in...

Machine learning provides individualized prediction of outcomes after first complete remission without allo‐HSCT consolidation in adult acute myeloid leukemia—A HARMONY study

Abstract Allogeneic hematopoietic stem cell transplantation (allo‐HSCT) is a curative treatment option for a significant proportion of patients with acute myeloid leukemia (AML), and it is generally recommended when the relapse risk without allo‐HSCT outweighs the estimated non‐r...

High levels of cell-free hemoglobin and iron in cerebral thrombi of pre-Omicron COVID-19 stroke patients: novel drivers of SARS-CoV-2–induced prothrombotic state

The pathophysiological mechanisms underlying the hypercoagulable state and thrombotic events associated with COVID-19 remain incompletely understood. To investigate prothrombotic alterations during SARS-CoV-2 infection, we performed an exploratory and integrated analysis of cereb...

Functional assessment of inherited myeloid neoplasm‐associated SAMD9L germline variants via Monoallelic CRISPR modelling

Summary While the majority of myeloid neoplasms are sporadic, the increasing application of germline genetic testing has led the World Health Organization to designate ‘ Myeloid malignancies with germline predisposition’ as a distinct clinical entity, carrying major implications...

Implementation of a Laboratory-Integrated Clinical Decision Support System for CKD Screening and Progression Detection in Primary Care

Background: CKD remains substantially underdiagnosed and inadequately monitored. Objectives: To evaluate whether a laboratory-integrated CDSS enables opportunistic CKD detection and longitudinal surveillance in Primary Care via automated KDIGO stratification and progression detec...

Stage-Specific Gene Expression Profiles in Multiple Sclerosis Cortical Lesions Identified via Spatial Transcriptomics

<title>Abstract</title> Background and Objectives Multiple sclerosis (MS) is a chronic inflammatory disease characterized by demyelinating lesions in the central nervous system. While animal models have provided valuable insights into lesion development, human-based studies—parti...

Integrated multiomics analysis reveals metabolic and microbiome alterations in Wilson disease

Wilson disease (WD) is a rare autosomal recessive disorder caused by mutations in ATP7B , which encodes a copper transporter. Abnormal ATP7B function leads to copper deposition, mainly in the liver and brain, resulting in hepatic, neurological, and psychiatric impairments. Metabo...

Burden, perception of stigma, and gender differences among informal care partners of individuals with mild cognitive impairment

Background Caring for individuals with mild cognitive impairment (MCI) is increasingly recognized as a significant clinical challenge. However, the latent burden, driven by perceived stigma and gender-specific vulnerabilities, remains poorly characterized during these early stage...