Documents in Process

Recent developments in physiological, imaging and digital biomarkers combined with the approval of new disease-modifying drugs against Alzheimer's disease (AD) and diagnostic blood tests provide an opportunity to shift the first diagnostic steps to the home-setting. While these novel biomarkers enable scalable screening and earlier detection and treatment of AD, they require an evaluation of their accuracy, feasibility, and safety in primary care and the community setting.The aim of PREDICTOM is to develop and test the accuracy of an artificial intelligence (AI) driven screening platform for the risk assessment and early detection of AD to extend the clinical pathway to home-based screening using established and novel biomarkers.PREDICTOM is a European (Norway, UK, Belgium, France, Switzerland, Germany, Spain) observational, prospective cohort study using a cloud-based platform that stores a digitalised journey for each participant and provides a collection of artificial-intelligence (AI) algorithms and tools for risk assessment and early diagnosis and prognosis.Cohort 1 consists of 4000 adults aged 50 years or older at risk of developing AD. [...]

Early and accurate detection of Alzheimer's disease (AD) is essential for timely intervention and development of disease-modifying treatments. The DZNE-Longitudinal Cognitive Impairment and Dementia Study (DELCODE) provides a deeply phenotyped cohort covering preclinical and early clinical stages, including subjective cognitive decline (SCD) and mild cognitive impairment (MCI). [...]

Aquaporin 4 (AQP4), a water channel expressed in astrocytic end feet forming the blood brain barrier, is predominantly expressed in the central nervous system. Cerebrospinal fluid (CSF) AQP4 has now been suggested as a possible fluid biomarker in Alzheimer's disease. [...]

Deep learning has demonstrated significant potential in medical imaging; however, the opacity of “black-box” models hinders clinical trust, while segmentation tasks typically necessitate laborious, hard-to-obtain pixel-wise annotations. To address these challenges simultaneously, this paper introduces a framework for three inherently explainable classifiers (GP-UNet, GP-ShuffleUNet, and GP-ReconResNet). [...]

The risk for dementia is to a significant extent driven by potentially modifiable factors. Prevention strategies are increasingly aiming at individually tailored risk reduction approaches, particularly in light of emerging Brain Health Services for dementia prevention (dBHS).The cross-sectional observational study 'Individual Risk Profiling for Alzheimer's and Dementia Prevention' (INSPIRATION) assessed the individual risk factors of 162 participants of the local Cologne Alzheimer Prevention Registry and provided individual feedback on risk profiles during a single visit. [...]

Alu elements are evolutionarily very old primate-specific interspersed repeat elements that constitute ∼11% of the human genome. They are a source of short tandem repeats (STRs), which often expand in size and cause inherited neuromuscular and neurodegenerative disorders. [...]

Long non-coding RNAs (lncRNAs) are emerging as key regulators of brain function, but their contribution to microglial aging and neurodegenerative disease remains largely unknown. Because only 1.5% of the human genome encodes proteins, whereas the vast majority of transcripts belong to the largely unexplored non-coding RNAome, elucidating the functions of non-coding RNAs provides an unprecedented opportunity to expand the space for therapeutic discovery. [...]

The collective dynamics of subcellular biological processes is often difficult to assess experimentally due to the challenges associated with spatial and temporal resolution, labeling, or multiple scattering. X-ray photon correlation spectroscopy is, in principle, well suited to probe collective dynamics by quantifying dispersion relations in complex fluids in general and biomolecular systems in particular. [...]

Patients with implantable cardioverter-defibrillators (ICDs) are vulnerable to psychological distress, including posttraumatic stress disorder (PTSD). Impaired sleep is a hallmark of PTSD, and may also act as a risk factor that maintains or exacerbates PTSD, yet this relationship has not been examined in ICD recipients across different ages. [...]

Model systems that mimic human cardiac structure and function are essential for the development of novel diagnostics and effective treatments for cardiovascular diseases. While non-human vertebrate models, from zebrafish to pig, remain vital to cardiovascular research, the translatability of findings to human patients is often limited. [...]