Simpson-Golabi-Behmel syndrome type 1 in a neonate with central hepatoblastoma.

We report a neonate evaluated for hepatomegaly during hospitalisation and was diagnosed to have hepatoblastoma, an uncommon childhood malignancy. The presence of dysmorphism, macrosomia and congenital heart defect led to the suspicion of congenital overgrowth conditions. The genetic evaluation revealed a pathogenic variant, conclusive of Simpson-Golabi-Behmel syndrome type 1 (SGBS1).

Psilocybin-assisted massed cognitive processing therapy for chronic posttraumatic stress disorder: Protocol for an open-label pilot feasibility trial.

Background: Posttraumatic stress disorder (PTSD) affects 3.9% of the general population. While massed cognitive processing therapy (CPT) has demonstrated efficacy in treating chronic PTSD, a substantial proportion of patients still continue to meet PTSD criteria after treatment, highlighting the need for novel therapeutic approaches.

Intracerebroventricular administration of a modified hexosaminidase ameliorates late-stage neurodegeneration in a GM2 mouse model.

The GM2 gangliosidoses, Tay-Sachs disease and Sandhoff disease, are devastating neurodegenerative disorders caused by β-hexosaminidase A (HexA) deficiency. In the Sandhoff disease mouse model, rescue potential was severely reduced when HexA was introduced after disease onset. Here, we assess the effect of recombinant HexA and HexD3, a newly engineered mimetic of HexA optimized for the treatment of Tay-Sachs disease and Sandhoff disease.