Instituto de Investigación Sanitaria La Fe

A roadmap for clinical-grade manufacturing of hiPSC: standardized methodologies for reprogramming, expansion, characterization, and biobanking of hiPSC

There is a critical global need for tissue for transplantation in patients with organ failure or degenerative diseases, which often have limited or no treatment options. Cell therapy using human induced pluripotent stem cells (hiPSC) represents a promising alternative to restore...

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...

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...

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...

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...

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...

Comparative clinical and reproductive outcomes following non-invasive versus biopsy-based preimplantation genetic testing for aneuploidy: a multicentric cohort study

Abstract Non-invasive preimplantation genetic testing for aneuploidy (niPGT-A) is emerging as a newer technology alongside conventional trophectoderm biopsy-based PGT-A, aiming to avoid embryo biopsy while enabling genetic assessment through analysis of cell-free DNA. However, it...

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...

Incidence, Causes, and Outcomes of Conversion to Open Surgery During Minimally Invasive Left Pancreatectomy: A Prospective Multicenter Study

ABSTRACT Background Minimally invasive left pancreatectomy (MILP) has become the preferred approach to treat lesions of the pancreatic body and tail. However, the procedure may require conversion to open surgery, with reported conversion rates varying widely in the literature. Th...

BioFRAM PGx, an Implementation Proposal for Pharmacogenetics in the Spanish National Health System

Background/Objectives: Pharmacogenetics (PGx) may improve drug safety and effectiveness, but its integration into routine care remains heterogeneous across the Spanish National Health System (NHS). This article presents BioFRAM PGx, a multicentre implementation framework that def...

Percentiles for crying, regurgitation, stool consistency, and CoMiSSTM in presumed healthy infants

Parents frequently consult health care professionals because of infant regurgitation, crying and stool consistency. The Cow’s Milk-related Symptom Score (CoMiSS TM ) is an awareness tool for cow’s milk allergy. We aimed to characterize the distribution of CoMiSS items in presumed...

Circulating plasma microRNAs as potential non-invasive biomarkers in infertile women with adenomyosis: an observational study

Despite advancements in imaging techniques, the non-invasive diagnosis of adenomyosis remains particularly challenging due to the overlap of imaging features with other uterine diseases, and the lack of consistent correlation with clinical presentation, with histological confirma...