Hospital Universitario Fundación Jiménez Díaz

The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome

Abstract Background Pathogenic variants in AGO2 ,encoding a central component of the RNA-induced silencing complex (RISC), cause the neurodevelopmental disorder Lessel-Kreienkamp syndrome (LESKRES). The variant spectrum and associated molecular mechanisms underlying phenotypic va...

Regression of Left Ventricular Hypertrophy in Primary Aldosteronism

BACKGROUND: Left ventricular hypertrophy (LVH) is frequently identified in patients with primary aldosteronism; determinants of LVH regression after targeted treatment are debated. We assessed LVH prevalence before and after adrenalectomy or mineralocorticoid receptor antagonist...

The transcription factor NF-Y promotes myeloid cell survival and protects from inflammatory vascular disease

Abstract Background Myeloid cells orchestrate vascular inflammation through transcriptional programs that regulate their maturation, effector function, and survival. While lineage-determining transcription factors establish myeloid identity, understanding of the transcriptional r...

Anatomic Classifications and Functional Outcomes in Preaxial Polydactyly of the Hand

BACKGROUND: Preaxial polydactyly is a common congenital hand anomaly with substantial anatomic variability. Although several classification systems exist, the relationship between anatomic subclassification and postoperative outcomes remains incompletely defined. This study evalu...

Towards Personalized Medicine in Chronic Kidney Disease: A Roadmap for the future of Early Detection, Diagnosis, and Management: A Consensus Roadmap from the EUTox, PerMedik and KidneyHealth networks

Chronic kidney disease (CKD) affects more than 800 million individuals worldwide and represents one of the fastest‑growing causes of morbidity and mortality. Despite major therapeutic advances, CKD is frequently detected only after substantial and irreversible loss of kidney func...

Integrating Kidney Imaging for Risk Prediction, Therapeutic Monitoring, and Prognostication Across the Kidney Disease Spectrum: A Review of Emerging Evidence

Abstract Kidney imaging advances are transforming the field of nephrology by allowing non-invasive examination of renal structure, function, and pathology. Traditional measures such as albuminuria and estimated glomerular filtration rate (eGFR) are only partially effective in ide...

Characterization and treatment of polymicrobial biofilms in prosthetic joint infections

Abstract Prosthetic joint infections are complex and associated with high economic and social costs. Polymicrobial cases remain poorly understood, particularly regarding bacterial interactions and antibiotic response within mixed-species biofilms. We introduce two approaches for...