Garrahan Hospital

Globalising the access to advanced molecular diagnostics of CNS tumors: Experience of the Molecular Neuro-Pathology (MNP) Outreach Consortium

Central nervous system (CNS) tumors pose a major global health challenge, particularly in low- and middle-income countries (LMICs), where outcomes remain disproportionately poor. The global CONCORD-3 study (Lancet Oncology) highlighted stark disparities in five-year survival (201...

MRI Characteristics of Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease

Importance Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is a demyelinating disease distinct from multiple sclerosis (MS) and aquaporin-4 antibody-positive neuromyelitis optica spectrum disorder (AQP4+NMOSD). Magnetic resonance imaging (MRI) is central t...

Koolen‐de Vries syndrome: Epilepsy‐associated features in a patient with a novel likely pathogenic KANSL1 single‐nucleotide variant

The authors declare no conflicts of interest. The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions. Data S1: Educational_slides. Data S2: Test_Yourself_A...

CNS distribution and preclinical activity of the PI3K/AKT inhibitors inavolisib and ipatasertib in pediatric-type diffuse high-grade gliomas

Abstract Purpose Pediatric-type diffuse high-grade gliomas (pHGG) are aggressive, largely incurable malignancies often characterized by PI3K/AKT pathway activation. This study investigated whether the PI3K inhibitor inavolisib and the AKT inhibitor ipatasertib could achieve thera...

How to Train Your Chatbot: Information‐Theoretic Foundations of Diagnostic Questioning in Inborn Errors of Immunity

BACKGROUND: Navigating the more than 550 inborn errors of immunity (IEI) requires efficient diagnostic reasoning. Information theory suggests questions should be prioritized by their capacity to reduce diagnostic uncertainty (entropy); yet whether experts or large language models...