Background: Oral lichen planus (OLP) and oral lichenoid lesions (OLL) are common chronic inflammatory diseases associated with malignant transformation. Risk factors associated with malignant transformation of OLP and OLL are not well defined.
Methods: A retrospective chart review assessed risk factors for progression of OLP and OLL to oral epithelial dysplasia (OED) or oral squamous cell carcinoma (OSCC) at a tertiary care centre in Toronto, Canada.
Lafora disease (LD), a fatal neurodegenerative disorder, is caused by mutations in the EPM2A gene encoding laforin phosphatase or NHLRC1 gene encoding malin ubiquitin ligase. LD symptoms include epileptic seizures, ataxia, dementia and cognitive decline. Studies on LD have primarily concentrated on the pathophysiology in the brain.
View Article and Find Full Text PDFFront Mol Neurosci
August 2024
Human apolipoprotein E (ApoE) was first identified as a polymorphic gene in the 1970s; however, the genetic association of ApoE genotypes with late-onset sporadic Alzheimer's disease (sAD) was only discovered 20 years later. Since then, intensive research has been undertaken to understand the molecular effects of ApoE in the development of sAD. Despite three decades' worth of effort and over 10,000 papers published, the greatest mystery in the ApoE field remains: human ApoE isoforms differ by only one or two amino acid residues; what is responsible for their significantly distinct roles in the etiology of sAD, with ApoE4 conferring the greatest genetic risk for sAD whereas ApoE2 providing exceptional neuroprotection against sAD.
View Article and Find Full Text PDFAims: To explore experiences, expectations, and involvement of children and young people (CYP) in decision-making for selective dorsal rhizotomy (SDR) surgery, post-operative physiotherapy treatment and outcomes.
Methods: A qualitative study design using one to one interviews. Five CYP (2 girls and 3 boys) participated, and interviews lasted between 45 min and 2 h.
Aims: The aim was to evaluate whether standardised exercise performance during the incremental shuttle walk test (ISWT) can be used to assess disease severity in children and young people (CYP) with chronic conditions, through (1) identifying the most appropriate paediatric normative reference equation for the ISWT, (2) assessing how well CYP with haemophilia and cystic fibrosis (CF) perform against the values predicted by the best fit reference equation and (3) evaluating the association between standardised ISWT performance and disease severity.
Methods: A cross-sectional analysis was carried out using existing data from two independent studies (2018-2019) at paediatric hospitals in London,UK. CYP with haemophilia (n=35) and CF (n=134) aged 5-18 years were included.