Consolidated long-term memories can undergo strength or content modification via protein synthesis-dependent reconsolidation. This is the process by which a reminder cue initiates reactivation of the memory trace, triggering destabilization. Older and more strongly encoded spatial memories can resist destabilization due to biological boundary conditions.
View Article and Find Full Text PDFAcid sphingomyelinase deficiency (ASMD) is a rare progressive genetic disorder caused by pathogenic variants in the gene causing low or absent activity of the enzyme acid sphingomyelinase, resulting in subsequent accumulation of its substrate, sphingomyelin. Signs and symptoms of excessive lysosomal sphingomyelin storage, such as hepatosplenomegaly and pulmonary impairment, and in a subset of patients, progressive neurological manifestations, have long been recognized as hallmarks of the disease. Uncontrolled accumulation of sphingomyelin has important and complex downstream metabolic and immunologic consequences that contribute to the disease burden.
View Article and Find Full Text PDFPompe disease is a rare, progressive neuromuscular disease caused by deficient lysosomal glycogen degradation, and includes both late-onset (LOPD) and severe infantile-onset (IOPD) phenotypes. Due to very small patient numbers in IOPD and the high phenotypic heterogeneity observed in this population, a quantitative systems pharmacology (QSP)-based "digital twin" approach was developed to perform an in silico comparison of the efficacy of avalglucosidase alfa vs. the standard of care, in a virtual population of IOPD patients.
View Article and Find Full Text PDFA 34-year-old female patient, with no comorbidities, presented with complaints of upper back pain across the shoulders, with altered sensation on the left side from trunk to lower limb, which was associated with reduced motor function and an acute symptom of urinary retention. On examination, there was reduced power in the left lower limb, reduced anal tone, a positive Babinski sign bilaterally, and reduced sensation in the perianal region. Serial magnetic resonance imaging (MRI) scans were conducted, where initially an upper thoracic lesion suggestive of an intramedullary cavernoma was found, and nearly a decade later, an adjacent extradural lesion causing cord compression was found incidentally through a surgical procedure.
View Article and Find Full Text PDFSurgical site infections (SSIs) pose significant risks to patient safety and healthcare systems globally despite preventive measures. This study audits compliance with the National Institute for Health and Care Excellence (NICE) guidelines for SSI prevention during the intra-operative phase in the Neurosurgery Department at Salford Royal National Health Service (NHS) Foundation Trust. Conducted in two audit cycles from October 2022 to October 2023, the study assessed adherence to 19 key parameters aimed at minimising SSIs.
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