Background: The Promoting Action on Research Implementation in Health Services (PARIHS) and integrated-PARIHS (i-PARIHS) frameworks position facilitation as an overarching strategy to enable implementation. In the revised i-PARIHS framework, facilitation is operationalised through a multi-level model with novice, experienced and expert facilitators working together in a network structure to build facilitation knowledge and skills along a continuum. To date, there has been limited evaluation of this facilitation model in practice, which is the aim of the study reported here.
View Article and Find Full Text PDFBrain somatic mutations are an increasingly recognized cause of epilepsy, brain malformations and autism spectrum disorders and may be a hidden cause of other neurodevelopmental and neurodegenerative disorders. At present, brain mosaicism can be detected only in the rare situations of autopsy or brain biopsy. Liquid biopsy using cell-free DNA derived from cerebrospinal fluid has detected somatic mutations in malignant brain tumours.
View Article and Find Full Text PDFObjective: To determine whether the R183Q mutation is present in the cases of Sturge-Weber syndrome (SWS) to establish a definitive molecular diagnosis.
Methods: We used sensitive droplet digital PCR (ddPCR) to detect and quantify the mutation in tissues from epilepsy surgery in 4 patients with leptomeningeal angiomatosis; none had ocular or cutaneous manifestations.
Results: Low levels of the mutation were detected in the brain tissue of all 4 cases-ranging from 0.
Literature on the outcome of pregnancy with first trimester exposure to Temozolomide is limited. We describe the case of a young woman with Glioblastoma Multiforme who was exposed to Temozolomide during her first trimester of pregnancy and subsequently delivered a healthy term newborn. At six months of age, the child remains healthy with no evidence of Temozolomide related effects.
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