We report duplication of the APP locus on chromosome 21 in five families with autosomal dominant early-onset Alzheimer disease (ADEOAD) and cerebral amyloid angiopathy (CAA). Among these families, the duplicated segments had a minimal size ranging from 0.58 to 6.37 Mb. Brains from individuals with APP duplication showed abundant parenchymal and vascular deposits of amyloid-beta peptides. Duplication of the APP locus, resulting in accumulation of amyloid-beta peptides, causes ADEOAD with CAA.

Campbell, B. C.V. et al. (2019) Penumbral imaging and functional outcome in patients with anterior circulation ischaemic stroke treated with endovascular thrombectomy versus medical therapy: a meta-analysis of individual patient-level data.ABSTRACT Background: CT-perfusion (CTP) and MRI may assist patient selection for endovascular thrombectomy. We aimed to establish whether imaging assessments of ischaemic core and penumbra volumes were associated with functional outcomes and treatment effect.

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Abstract:The most significant assumptions in the subdomain technique (i.e., based on the formal resolution of Maxwell's equations applied in subdomain) is defined by: The iron parts (i.e., the teeth and the back-iron are considered to be infinitely permeable, i.e., µ iron → +∞, so that the saturation effect is neglected. In this paper, the authors present a new scientific contribution on improving of this method in two-dimensional (2-D) and in Cartesian coordinates by focusing on the consideration of iron. The subdomains connection is carried out in the two directions (i.e., x-and y-edges). For example, the improvement was performed by solving magnetostatic Maxwell's equations for an air-or iron-cored coil supplied by a direct current. To evaluate the efficacy of the proposed technique, the magnetic flux density distributions have been compared with those obtained by the 2-D finite-element analysis (FEA). The semi-analytical results are in quite satisfying agreement with those obtained by the 2-D FEA, considering both amplitude and waveform.

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