Common variants in Alzheimer's disease and risk stratification by polygenic risk scores.

Genetic discoveries of Alzheimer's disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer's disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene).

Discovery and validation of plasma proteomic biomarkers relating to brain amyloid burden by SOMAscan assay.

Introduction: Plasma proteins have been widely studied as candidate biomarkers to predict brain amyloid deposition to increase recruitment efficiency in secondary prevention clinical trials for Alzheimer's disease. Most such biomarker studies are targeted to specific proteins or are biased toward high abundant proteins.

Methods: 4001 plasma proteins were measured in two groups of participants (discovery group = 516, replication group = 365) selected from the European Medical Information Framework for Alzheimer's disease Multimodal Biomarker Discovery study, all of whom had measures of amyloid.

Exploring Cognitive Frailty: Prevalence and Associations with Other Frailty Domains in Older People with Different Degrees of Cognitive Impairment.

Background: Cognitive frailty has long been defined as the co-occurrence of mild cognitive deficits and physical frailty. However, recently, a new approach to cognitive frailty has been proposed: cognitive frailty as a distinct construct. Nonetheless, the relationship between this relatively new construct of cognitive frailty and other frailty domains is unclear.

Posttraumatic cyst-like lesions of cortical bone in children.

Cyst-like cortical defects appearing after minor greenstick fractures in children have occasionally been described. These lesions are asymptomatic and appear just proximal to the fracture line within the area of subperiostal new bone formation. Although the pathogenesis of these lesions remains conjectural, complete resolution occurs, without adverse effect on fracture healing.