Publications by authors named "Louise Simmons"
Article Synopsis
- - This study observed 72 children with Leigh syndrome to track disease progression and identify factors influencing their condition over time, using the Newcastle Paediatric Mitochondrial Disease Scale (NPMDS).
- - Results showed a significant worsening in the children's overall health, with the median NPMDS scores increasing and the percentage of those experiencing severe disease burden doubling over 2.6 years; many children became more reliant on assistance for mobility and care.
- - Key factors associated with poorer outcomes included specific genetic mutations (especially in the SURF1 gene) and distinct brain changes on scans, highlighting important areas for future research and patient management.
Lysosomal storage disorders (LSDs) occur at a frequency of 1 in every 5,000 live births and are a common cause of pediatric neurodegenerative disease. The relatively small number of patients with LSDs and lack of validated biomarkers are substantial challenges for clinical trial design. Here, we evaluated the use of a commercially available fluorescent probe, Lysotracker, that can be used to measure the relative acidic compartment volume of circulating B cells as a potentially universal biomarker for LSDs.
View Article and Find Full Text PDFNiemann-Pick type C (NPC) is a neurodegenerative lysosomal storage disorder caused by defects in the lysosomal proteins NPC1 or NPC2. NPC cells are characterized by reduced lysosomal calcium levels and impaired sphingosine transport from lysosomes. Natural killer (NK) cells kill virally infected/transformed cells via degranulation of lysosome-related organelles.
View Article and Find Full Text PDFBackground: SURF1 deficiency, a monogenic mitochondrial disorder, is the most frequent cause of cytochrome c oxidase (COX) deficient Leigh syndrome (LS). We report the first natural history study of SURF1 deficiency.
Methods: We conducted a multi-centre case notes review of 44 SURF1-deficient patients from ten different UK centres and two Australian centres.
Invariant natural killer T (iNKT) cells are a specialised subset of T cells that are restricted to the MHC class I like molecule, CD1d. The ligands for iNKT cells are lipids, with the canonical superagonist being α-galactosylceramide, a non-mammalian glycosphingolipid. Trafficking of CD1d through the lysosome is required for the development of murine iNKT cells.
View Article and Find Full Text PDFIntroduction: Parents have a fundamental role in promoting the healthy weight of their children.
Objectives: To determine parental perceptions of their child's body weight, eating and physical activity (PA) behaviours, and to test a predictive model of parental perceptions regarding their child's PA and healthy eating behaviours.
Methods: A random-digit telephone survey was conducted among parents of children four to 12 years of age living in the Champlain region of Ontario.