84 research outputs found

    RANTES/CCL5 and risk for coronary events: Results from the MONICA/KORA Augsburg case-cohort, Athero-express and CARDIoGRAM studies

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    Background: The chemokine RANTES (regulated on activation, normal T-cell expressed and secreted)/CCL5 is involved in the pathogenesis of cardiovascular disease in mice, whereas less is known in humans. We hypothesised that its relevance for atherosclerosis should be reflected by associations between CCL5 gene variants, RANTES serum concentrations and protein levels in atherosclerotic plaques and risk for coronary events. Methods and Findings: We conducted a case-cohort study within the population-based MONICA/KORA Augsburg studies. Baseline RANTES serum levels were measured in 363 individuals with incident coronary events and 1,908 non-cases (mean follow-up: 10.2±

    Frail inner limiting membrane maculopathy suggested to describe a new retinal Alport-like condition with two variants in three generations of females.

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    We report a three-generation family with isolated Alport-like retinal abnormalities in the absence of lenticonus, hearing loss, kidney disease, and detectable molecular genetic defects in known Alport-related genes. Clinical examination includes ocular biomicroscopy, fundus photography, optical coherence tomography, dipstick urinalysis, serum creatinine assessment, and molecular genetic analysis. The proband, her mother, and her maternal grandmother had normal best-corrected visual acuity and normal visual fields in both eyes. The macula presented a petaloid stair-case profile with scarce vessels in both eyes of the proband and a flat temporal macula lacking a foveal avascular zone in her mother and her grandmother. No family member had renal symptoms, unexplained subnormal hearing, or lenticonus. Sequencing and MLPA found no defect in COL4A3, COL4A4, and COL4A5. Common SNPs around the genes ± 1Mb showed no segregation. Furthermore, none of the variants shared between the affected individuals in genes from a gene panel of genes relevant for ophthalmopathy nor whole exome- and genome sequencing explained the phenotype. A new condition with two retinal Alport-like phenotypes was found. No abnormalities of the kidneys and lens were found, neither abnormalities of the type IV collagen genes related to Alport syndrome. Homology with retinal abnormalities seen in patients after surgical removal of the inner limiting membrane of the retina suggests that this is where the defect is located. We therefore suggest that the new retinal phenotypes and similar phenotypes can be described with the new definition "frail inner limiting membrane maculopathy.

    On the use of evolutionary time series analysis for segmenting paleoclimate data

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    Recent studies propose that some dynamical systems, such as climate, ecological and financial systems, among others, present critical transition points named to as tipping points (TP). Climate TPs can severely affect millions of lives on Earth so that an active scientific community is working on finding early warning signals. This paper deals with the segmentation of a paleoclimate time series to find segments sharing common patterns with the purpose of finding one or more kinds of segments corresponding to TPs. Due to the limitations of classical statistical methods, we propose the use of a genetic algorithm to automatically segment the series together with a method to perform time series segmentation comparisons. Without a priori information, the method clusters together most of the TPs and avoids false positives, which is a promising result given the challenging nature of the problem

    Optimal control of a nitrogen-vacancy spin ensemble in diamond for sensing in the pulsed domain

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    Defects in solid state materials provide an ideal, robust platform for quantum sensing. To deliver maximum sensitivity, a large ensemble of non-interacting defects hosting coherent quantum states are required. Control of such an ensemble is challenging due to the spatial variation in both the defect energy levels and in any control field across a macroscopic sample. In this work we experimentally demonstrate that we can overcome these challenges using Floquet theory and optimal control optimization methods to efficiently and coherently control a large defect ensemble, suitable for sensing. We apply our methods experimentally to a spin ensemble of up to 4 ×\times 109^9 nitrogen vacancy (NV) centers in diamond. By considering the physics of the system and explicitly including the hyperfine interaction in the optimization, we design shaped microwave control pulses that can outperform conventional (π\pi-) pulses when applied to sensing of temperature or magnetic field, with a potential sensitivity improvement between 11 and 78\%. Through dynamical modelling of the behaviour of the ensemble, we shed light on the physical behaviour of the ensemble system and propose new routes for further improvement
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