Towards a histological diagnosis of childhood small vessel CNS vasculitis.

Background: Primary small vessel CNS vasculitis (sv-cPACNS) is a challenging inflammatory brain disease in children. Brain biopsy is mandatory to confirm the diagnosis. This study aims to develop and validate a histological scoring tool for diagnosing small vessel CNS vasculitis.

Multimodal oculomotor assessment reveals prodromal markers of Parkinson's disease in non-manifesting LRRK2 G2019S mutation carriers.

Oculomotor behaviour changes in patients with Parkinson's disease (PD) are a promising source of prodromal disease markers. Capitalizing on this phenomenon to facilitate early diagnosis requires oculomotor assessment in prodromal cohorts. We examined oculomotor behaviour in non-manifesting LRRK2 G2019S mutation carriers (LRRK2-NM), who have heightened PD risk.

The landscape of primary mismatch repair deficient gliomas in children, adolescents, and young adults: a multi-cohort study.

Background: Gliomas are a major cause of cancer-related death among children, adolescents, and young adults (age 0-40 years). Primary mismatch repair deficiency (MMRD) is a pan-cancer mechanism with unique biology and therapeutic opportunities. We aimed to determine the extent and impact of primary MMRD in gliomas among children, adolescents, and young adults.

Pallid optic disc oedema in non-arteritic anterior ischaemic optic neuropathy without a conventional 'disc at risk'.

Non-arteritic anterior ischaemic optic neuropathy (NAION) is typically characterised by non-pallid optic disc oedema and a contralateral small optic nerve head. Typically, the optic cup is absent or small with a cup-to-disc ratio of less than 0.3 termed 'disc at risk'.

Skull Ossification in the Andean Toad Rhinella spinulosa (Bufonidae) and the Genetic Model Organism Xenopus tropicalis (Pipidae) Reveals Heterochrony Phenomena and Frontoparietal Suture Modifications.

Anurans are famous for having evolved a highly simplified skull through bone loss and fusion events. Nevertheless, their skeleton displays a rich morphological diversity associated with adaptations to diverse lifestyles and ecological niches. Here, we report larval skull ossification in the Andean toad Rhinella spinulosa (Bufonidae), and compare it to the phylogenetically distant genetic model organism Xenopus tropicalis (Pipidae).