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Purpose:To describe the features of retinal detachments and high myopia in patients with novel pathogenic variants in LEPREL1 and report a possible association with nephropathy.Methods:Retrospective study of 10 children with biallelic LEPREL1 pathogenic variants. Data included ophthalmic features, surgical interventions, and genetic and laboratory findings.Results:10 patients (8 females) from thre
Mapping of the spatial and temporal motion of particles inside an optical field is critical for understanding and further improvement of the 3D spatio-temporal control over their optical trapping dynamics. However, it is not trivial to capture the 3D motion, and most imaging systems only capture a 2D projection of the 3D motion, in which the information about the axial movement is not directly ava
Microvascular pathology in the brain is one of the suggested mechanisms underlying the increased incidence and progression of neurodegenerative diseases in people with type 2 diabetes (T2D). Although accumulating data suggest a neuroprotective effect of antidiabetics, the underlying mechanisms are unclear. Here, we investigated whether two clinically used antidiabetics, the dipeptidyl pep-tidase-4
The pathophysiological mechanisms intersecting metabolic and neurodegenerative disorders include insulin resistance, which has a strong involvement of environmental factors. Besides central regulation of whole-body homeostasis, insulin in the central nervous system controls molecular signalling that is critical for cognitive performance, namely signalling through pathways that modulate synaptic tr
Labour, in all its dimensions, has been “on the move” in the last few years. Before the pandemic, labour mobility has mostly interested only a fraction of the working population, such as highly skilled and high-net-worth individuals. COVID-19 has, however, expanded the extent of labour mobility and the categories of workers involved. This contribution discusses four major changes in labour pattern
Cosmogenic radionuclide records from polar ice cores provide unique insights into past cosmic ray flux variations. They allow reconstructions of past solar activity, space weather, and geomagnetic field changes, and provide insights into past carbon cycle changes. However, all these applications rely on the proportionality of the ice core radionuclide records to the global mean production rate cha
Global climate models (GCMs) are challenged by difficulties in simulating cloud phase and cloud radiative effect over the Southern Ocean (SO). Some of the new-generation GCMs predict too much liquid and too little ice in mixed-phase clouds. This misrepresentation of cloud phase in GCMs results in weaker negative cloud feedback over the SO and a higher climate sensitivity. Based on a model comparis
Background: Coarctation of the aorta (CoA), a congenital narrowing of the proximal descending thoracic aorta, is a relatively common form of congenital heart disease. Untreated significant CoA has a major impact on morbidity and mortality. In the past 3 decades, transcatheter intervention (TCI) for CoA has evolved as an alternative to surgery. Objectives: The authors report on all TCIs for CoA per
