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"Sturm, C."
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International Atherosclerosis Society guidance for implementing best practice in the care of familial hypercholesterolaemia
This contemporary, international, evidence-informed guidance aims to achieve the greatest good for the greatest number of people with familial hypercholesterolaemia (FH) across different countries. FH, a family of monogenic defects in the hepatic LDL clearance pathway, is a preventable cause of premature coronary artery disease and death. Worldwide, 35 million people have FH, but most remain undiagnosed or undertreated. Current FH care is guided by a useful and diverse group of evidence-based guidelines, with some primarily directed at cholesterol management and some that are country-specific. However, none of these guidelines provides a comprehensive overview of FH care that includes both the lifelong components of clinical practice and strategies for implementation. Therefore, a group of international experts systematically developed this guidance to compile clinical strategies from existing evidence-based guidelines for the detection (screening, diagnosis, genetic testing and counselling) and management (risk stratification, treatment of adults or children with heterozygous or homozygous FH, therapy during pregnancy and use of apheresis) of patients with FH, update evidence-informed clinical recommendations, and develop and integrate consensus-based implementation strategies at the patient, provider and health-care system levels, with the aim of maximizing the potential benefit for at-risk patients and their families worldwide.Familial hypercholesterolaemia (FH) is a preventable cause of premature coronary artery disease and death. This guidance article from the International Atherosclerosis Society provides a comprehensive overview of FH care that includes recommendations on the detection and management of patients with FH, as well as strategies to maximize implementation.
Journal Article
Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders
Rare genetic disorders (RGDs) often exhibit significant clinical variability among affected individuals, a disease characteristic termed variable expressivity. Recently, the aggregate effect of common variation, quantified as polygenic scores (PGSs), has emerged as an effective tool for predictions of disease risk and trait variation in the general population. Here, we measure the effect of PGSs on 11 RGDs including four sex-chromosome aneuploidies (47,XXX; 47,XXY; 47,XYY; 45,X) that affect height; two copy-number variant (CNV) disorders (16p11.2 deletions and duplications) and a Mendelian disease (melanocortin 4 receptor deficiency (
MC4R
)) that affect BMI; and two Mendelian diseases affecting cholesterol: familial hypercholesterolemia (FH;
LDLR
and
APOB
) and familial hypobetalipoproteinemia (FHBL;
PCSK9
and
APOB
). Our results demonstrate that common, polygenic factors of relevant complex traits frequently contribute to variable expressivity of RGDs and that PGSs may be a useful metric for predicting clinical severity in affected individuals and for risk stratification.
Rare genetic disorders (RGDs) often exhibit significant clinical variability among affected individuals. Here, Oetjens et al. systematically study the contribution of common genetic variation to variable expressivity of RGDs and find it is frequently influenced by polygenic factors identified in genome-wide association studies of relevant traits.
Journal Article
Strong coupling of Bloch surface waves and excitons in ZnO up to 430 K
We report on the investigation and observation of Bloch surface wave polaritons, resulting from the interaction between excitons in ZnO and a Bloch surface wave supported by a distributed Bragg reflector (DBR), for temperatures up to 430 K. The samples were fabricated using pulsed laser deposition and consist of a DBR made of 6.5 layer pairs of yttrica-stabilized zirconia and Al 2 O 3 with a ZnO surface layer. We measured the reflectivity of transverse electric modes using a SiO 2 prism in Kretschmann–Raether configuration, giving access to high in-plane momenta. Whereas the lower polariton branch was clearly observable, the upper polariton branch was not visible, due to the strong absorption in ZnO above the excitonic resonance. By employing a coupled oscillator model for the interaction between the bare surface mode and exciton, we derived a corresponding Rabi splitting between 100–192 meV at 294 K, which decreases with increasing temperature.
Journal Article
All-optical phase modulation in a cavity-polariton Mach–Zehnder interferometer
Quantum fluids based on light is a highly developing research field, since they provide a nonlinear platform for developing optical functionalities and quantum simulators. An important issue in this context is the ability to coherently control the properties of the fluid. Here we propose an all-optical approach for controlling the phase of a flow of cavity-polaritons, making use of their strong interactions with localized excitons. Here we illustrate the potential of this method by implementing a compact exciton–polariton interferometer, which output intensity and polarization can be optically controlled. This interferometer is cascadable with already reported polariton devices and is promising for future polaritonic quantum optic experiments. Complex phase patterns could be also engineered using this optical method, providing a key tool to build photonic artificial gauge fields.
Quantum fluids such as cavity-polaritons show nonlinear optical properties of interest in applications such as quantum optics. Here, Sturm and colleagues demonstrate an optical control of the phase of a polariton flow, and make use of this to realize a compact exciton–polariton interferometer.
Journal Article
Continuous Particle Separation through Deterministic Lateral Displacement
We report on a microfluidic particle-separation device that makes use of the asymmetric bifurcation of laminar flow around obstacles. A particle chooses its path deterministically on the basis of its size. All particles of a given size follow equivalent migration paths, leading to high resolution. The microspheres of 0.8, 0.9, and 1.0 micrometers that were used to characterize the device were sorted in 40 seconds with a resolution of ~10 nanometers, which was better than the time and resolution of conventional flow techniques. Bacterial artificial chromosomes could be separated in 10 minutes with a resolution of ~12%.
Journal Article
Barriers, facilitators, and solutions to familial hypercholesterolemia treatment
Familial hypercholesterolemia (FH) is an inherited lipid disorder that confers high risk for premature cardiovascular disease but remains undertreated. Causes are multifactorial and multilevel, ranging from underprescribing (at the clinician-level) to medication nonadherence (at the patient-level). We evaluated patient and clinician stakeholder barriers and facilitators for treatment of FH to explore possible solutions to the problem.
Semi-structured interviews and focus groups guided by the Practical, Robust, Implementation and Sustainability Model (PRISM), were conducted with 33 patients and 17 clinician stakeholders across three healthcare systems. A total of14 patients and 9 clinician stakeholders participated in on-site focus groups and the remainder were individual interviews. Transcripts were coded using an iterative process to create a static codebook. We characterized patient and clinician stakeholder barriers into three categories: medical care-, medication-, and life-related. Feasibility of brainstormed solutions varied and was not always representative of the needs of all stakeholders. Patients suggested a need for childhood screening for FH and doctors being persistent about the importance of treating FH, creation of a patient peer group, data transparency, advocacy, and policy changes that would enable patients to receive better treatment. Clinician stakeholders suggested the need for clinical champions. Both groups of stakeholders discussed the need for education about FH.
Proposed solutions to improve treatment of FH proffered by participants in this study included resources for both patients and clinician stakeholders that clarify cardiovascular disease risks from FH, develop programs to screen for and identify FH at younger ages, and foster open conversations between patients and clinicians about treatment.
Journal Article
Large-Area Resistive Strain Sensing Sheet for Structural Health Monitoring
Damage significantly influences response of a strain sensor only if it occurs in the proximity of the sensor. Thus, two-dimensional (2D) sensing sheets covering large areas offer reliable early-stage damage detection for structural health monitoring (SHM) applications. This paper presents a scalable sensing sheet design consisting of a dense array of thin-film resistive strain sensors. The sensing sheet is fabricated using flexible printed circuit board (Flex-PCB) manufacturing process which enables low-cost and high-volume sensors that can cover large areas. The lab tests on an aluminum beam showed the sheet has a gauge factor of 2.1 and has a low drift of 1.5 μ ϵ / d a y . The field test on a pedestrian bridge showed the sheet is sensitive enough to track strain induced by the bridge’s temperature variations. The strain measured by the sheet had a root-mean-square (RMS) error of 7 μ ϵ r m s compared to a reference strain on the surface, extrapolated from fiber-optic sensors embedded within the bridge structure. The field tests on an existing crack showed that the sensing sheet can track the early-stage damage growth, where it sensed 600 μ ϵ peak strain, whereas the nearby sensors on a damage-free surface did not observe significant strain change.
Journal Article
Determination of acoustic phonon anharmonicities via second-order Raman scattering in CuI
We demonstrate the determination of anharmonic acoustic phonon properties via second-order Raman scattering exemplarily on copper iodide single crystals. The origin of multi-phonon features from the second-order Raman spectra was assigned by the support of the calculated 2-phonon density of states. In this way, the temperature dependence of acoustic phonons was determined down to 10 K. To determine independently the harmonic contributions of respective acoustic phonons, density functional theory in quasi-harmonic approximation was used. Finally, the anharmonic contributions were determined. The results are in agreement with earlier publications and extend CuI’s determined acoustic phonon properties to lower temperatures with higher accuracy. This approach demonstrates that it is possible to characterize the acoustic anharmonicities via Raman scattering down to zero-temperature renormalization constants of at least 0.1 cm −1 .
Journal Article
On-chip natural assembly of silicon photonic bandgap crystals
Photonic bandgap crystals can reflect light for any direction of propagation in specific wavelength ranges
1
,
2
,
3
. This property, which can be used to confine, manipulate and guide photons, should allow the creation of all-optical integrated circuits. To achieve this goal, conventional semiconductor nanofabrication techniques have been adapted to make photonic crystals
4
,
5
,
6
,
7
,
8
,
9
. A potentially simpler and cheaper approach for creating three-dimensional periodic structures is the natural assembly of colloidal microspheres
10
,
11
,
12
,
13
,
14
,
15
. However, this approach yields irregular, polycrystalline photonic crystals that are difficult to incorporate into a device. More importantly, it leads to many structural defects that can destroy the photonic bandgap
16
,
17
. Here we show that by assembling a thin layer of colloidal spheres on a silicon substrate, we can obtain planar, single-crystalline silicon photonic crystals that have defect densities sufficiently low that the bandgap survives. As expected from theory, we observe unity reflectance in two crystalline directions of our photonic crystals around a wavelength of 1.3 micrometres. We also show that additional fabrication steps, intentional doping and patterning, can be performed, so demonstrating the potential for specific device applications.
Journal Article