Institution
Institut de Recerca Sant Joan de Déu
Recent research
- Health & MedicineOpen access
Paediatric obesity is a major public health concern worldwide. Obesity during childhood or adolescence is associated with an increased risk of obesity and other health problems in adulthood. Studying its determinants is crucial for guiding structural and health promotion interven...
- Health & MedicineOpen access
TET2-driven activation of AGO2 links epigenetic remodeling to myeloid commitment and leukemia
DNA methylation dynamics shape hematopoietic differentiation and leukemogenesis, yet how the dioxygenase TET2—frequently mutated in myeloid malignancies—directs lineage-specific regulatory programs remains unclear. Here, we integrated DNA methylation, chromatin accessibility, thr...
- Biology
Objective A substantial proportion of individuals with suspected genetic conditions, including neuromuscular disorders, lack a definitive molecular diagnosis. Non‐coding variants, particularly those in the 3′ untranslated region (3´UTR), which regulate mRNA stability, translation...
- Health & MedicineOpen access
Determinants of screening participation of disadvantaged populations in France: a qualitative study
Background People from deprived backgrounds and people with disability have generally limited access to health screening. This study aimed to identify the factors influencing access to recommended screenings for these disadvantaged groups, to inform development of tailored screen...
- Health & MedicineOpen access
Background/Objectives: Congenital diaphragmatic hernia (CDH) requiring extracorporeal membrane oxygenation (ECMO) remains one of the most challenging conditions in neonatal critical care. Despite advances in prenatal assessment and neonatal management, substantial uncertainty per...
- Society & EconomicsOpen access
Despite advances in cancer treatment, the growing global cancer burden underscores the need for comprehensive and supportive care to address the needs of patients and their families. However, access to psycho-oncological support remains often limited across healthcare systems. Th...
- Health & MedicineOpen access
Maternal diet during pregnancy may influence maternofoetal outcomes, including the occurrence of preeclampsia. The objective was to assess the association of maternal adherence to a Mediterranean diet pattern with preeclampsia, and the correlation with surrogate makers of the dis...
OBJECTIVES: Older adults living in long-term care facilities are at increased risk of reduced psychoemotional well-being. Snoezelen multisensory environments have been proposed as person-centered interventions, although evidence remains inconsistent. This study aimed to evaluate...
- Health & MedicineOpen access
Background: This study reports the development and initial face and content validation of high-fidelity 3D hybrid simulators for training in complex pediatric oncologic surgery. Pediatric solid tumor surgery is technically demanding; case volumes are low, and procedural errors ca...
- Society & EconomicsOpen access
Abstract Social behaviour is a heritable trait linked to well-being and mental health, yet it varies across social context, including social domains, informants and development, which may shape its underlying genomic architecture. Here, we conducted a genome-wide meta-regression...
- Health & MedicineOpen access
Clinical Variability and Genotype‐Driven Outcomes in CHRND ‐Related Congenital Myasthenic Syndrome
BACKGROUND: Congenital myasthenic syndromes (CMS) caused by pathogenic variants in CHRND, encoding the δ-subunit of the nicotinic acetylcholine receptor (AChR), are rare, and data on genotype-phenotype correlations and long-term outcomes are limited. METHODS: We performed a retro...