Publications by authors named "H Adle-Biassette"
Article Synopsis
- - The study reviewed 11 pediatric patients diagnosed with neurosarcoidosis (NS), predominantly affecting girls, with an average diagnosis age of around 10 to 11.5 years, highlighting typical neurological symptoms such as headaches and eye involvement.
- - Most patients experienced meningitis and were treated primarily with corticosteroids and TNF-alpha inhibitors, with eight out of 11 requiring biologic therapies to achieve remission.
- - The findings emphasize the importance of recognizing the clinical features of pediatric NS and suggest that early intervention with TNF-alpha biologics can lead to better management outcomes for these children.
Article Synopsis
- MandibuloAcral Dysplasia associated to MTX2 gene (MADaM) is an accelerated aging disease characterized by skin issues, growth delays, and heart-related problems.
- Research using mtx-2-deficient C. elegans (a type of worm) shows they exhibit similar aging characteristics to humans with MADaM, including rougher skin texture and poor mitochondrial function.
- The findings from various analyses support these worms as a promising model to explore MADaM's molecular mechanisms and help develop potential treatments.
Article Synopsis
- The study focuses on hypothalamic hamartomas (HHs), rare brain lesions linked to difficult-to-treat epilepsy, and explores their genetic causes in a new cohort of 9 HH patients.
- Researchers found harmful genetic variants in known HH-related genes in 7 out of 9 cases, also discovering a new two-hit mutation involving a gene related to brain development.
- The results highlight the significance of somatic mutations in Shh and cilia signaling pathways and point to the importance of genetic testing on brain tissue for understanding epilepsy disorders.
Cortical malformations such as focal cortical dysplasia type II (FCDII) are associated with pediatric drug-resistant epilepsy that necessitates neurosurgery. FCDII results from somatic mosaicism due to post-zygotic mutations in genes of the PI3K-AKT-mTOR pathway, which produce a subset of dysmorphic cells clustered within healthy brain tissue. Here we show a correlation between epileptiform activity in acute cortical slices obtained from human surgical FCDII brain tissues and the density of dysmorphic neurons.
View Article and Find Full Text PDFIntroduction: The management of giant cell arteritis (GCA) has evolved with the arrival of tocilizumab (TCZ) and the use of PET/CT. Our objective is to describe the characteristics and followup of patients with recent diagnosis of GCA in current care.
Patients And Methods: The NEWTON cohort is a monocentric retrospective cohort based on data collected from 60 GCA patients diagnosed between 2017 and 2022 according to the ACR/EULAR 2022 criteria.