Institution
Sachs' Children and Youth Hospital
Recent research
- Health & MedicineOpen access
OBJECTIVE: To synthesize evidence on the physiological determinants of endurance capacity in individuals with cerebral palsy. DESIGN: Narrative review. SUBJECTS/PATIENTS: Children and adults with cerebral palsy across the spectrum of motor function (Gross Motor Function Classific...
- Health & MedicineOpen access
Abstract Background Clinical ethics support (CES) is increasingly recognised as essential in healthcare, yet its evaluation remains challenging due to the complexity of CES practices and the latent, psychosocial nature of relevant outcomes. The European Moral Case Deliberation Ou...
- Biology
Cryptic NLRP3 Mosaicism Uncovered by Deep Sequencing in Muckle-Wells Syndrome: A Case Report
Background Muckle-Wells syndrome is part of the cryopyrin-associated periodic syndrome (CAPS) family, a group of rare autoinflammatory conditions caused by gain-of-function variants in the NLRP3 gene, leading to uncontrolled activation of the inflammasome and excessive IL-1β rele...