Publications by authors named "Carmela Gammeri"
Article Synopsis
- - GNAO1 encephalopathy involves severe neurological symptoms like hypotonia, psychomotor retardation, and movement disorders, linked to genetic variations like the E246K mutation in the Gα subunit affecting G protein signaling.
- - Molecular modeling studies were used to explore the impact of the E246K mutation on G protein signal transduction and test the effectiveness of the drug tetrabenazine in addressing these abnormalities.
- - Results showed that tetrabenazine could normalize signal transduction affected by the E246K mutation, suggesting it might be a viable treatment for pediatric patients with this rare form of encephalopathy.
Background: Bronchiolitis is a common lower respiratory tract infection (LRTI) affecting infants and young children. Respiratory syncytial virus (RSV) has historically been the primary causative agent, but other viruses also contribute to the LRTI epidemiology. Recent changes in epidemiology and clinical patterns due to the coronavirus disease 2019 (COVID-19) pandemic have raised concerns.
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