The impact of PICALM genetic variations on reserve capacity of posterior cingulate in AD continuum

Phosphatidylinositolbinding clathrin assembly protein (PICALM) gene is one novel genetic player associated with late-onset Alzheimer’s disease (LOAD), based on recent genome wide association studies (GWAS). However, how it affects AD occurrence is still unknown. Brain reserve hypothesis highlights the tolerant capacities of brain as a passive means to fight against neurodegenerations. Here, we took the baseline volume and/or thickness of LOAD-associated brain regions as proxies of brain reserve capacities and investigated whether PICALM genetic variations can influence the baseline reserve capacities and the longitudinal atrophy rate of these specific regions using data from Alzheimer’s Disease Neuroimaging Initiative (ADNI) dataset. In mixed population, we found that brain region significantly affected by PICALM genetic variations was majorly restricted to posterior cingulate. In sub-population analysis, we found that one PICALM variation (C allele of rs642949) was associated with larger baseline thickness of posterior cingulate in health. We found seven variations in health and two variations (rs543293 and rs592297) in individuals with mild cognitive impairment were associated with slower atrophy rate of posterior cingulate. Our study provided preliminary evidences supporting that PICALM variations render protections by facilitating reserve capacities of posterior cingulate in non-demented elderly

Continuous monitoring of surgical bimanual expertise using deep neural networks in virtual reality simulation

Abstract In procedural-based medicine, the technical ability can be a critical determinant of patient outcomes. Psychomotor performance occurs in real-time, hence a continuous assessment is necessary to provide action-oriented feedback and error avoidance guidance. We outline a deep learning application, the Intelligent Continuous Expertise Monitoring System (ICEMS), to assess surgical bimanual performance at 0.2-s intervals. A long-short term memory network was built using neurosurgeon and student performance in 156 virtually simulated tumor resection tasks. Algorithm predictive ability was tested separately on 144 procedures by scoring the performance of neurosurgical trainees who are at different training stages. The ICEMS successfully differentiated between neurosurgeons, senior trainees, junior trainees, and students. Trainee average performance score correlated with the year of training in neurosurgery. Furthermore, coaching and risk assessment for critical metrics were demonstrated. This work presents a comprehensive technical skill monitoring system with predictive validation throughout surgical residency training, with the ability to detect errors

Neurological outcome of patients with hyperinsulinemic hyperammonaemia syndrome: a putative relation with the genotype

FLWINinfo:eu-repo/semantics/publishe

Florbetapir PET, FDG PET, and MRI in Down syndrome individuals with and without Alzheimer\u27s dementia

Abstract Introduction Down syndrome (DS) is associated with amyloid b (Ab) deposition. Methods We characterized imaging measurements of regional fibrillar Ab burden, cerebral metabolic rate for glucose (rCMRgl), gray matter volumes (rGMVs), and age associations in 5 DS with dementia (DS/AD1), 12 DS without dementia (DS/AD2), and 9 normal controls (NCs). Results There were significant group differences in mean standard uptake value ratios (SUVRs) for florbetapir with DS/AD1 having the highest, followed by DS/AD2, followed by NC. For [18F]-fluorodeoxyglucose positron emission tomography, posterior cingulate rCMRgl in DS/AD1 was significantly reduced compared with DS/AD2 and NC. For volumetric magnetic resonance imaging (vMRI), hippocampal volumes were significantly reduced for the DS/AD1 compared with DS/AD2 and NC. Age-related SUVR increases and rCMRgl reductions were greater in DS participants than in NCs. Discussion DS is associated with fibrillar Ab, rCMRgl, and rGMV alterations in the dementia stage and before the presence of clinical decline. This study provides a foundation for the studies needed to inform treatment and prevention in DS