Molecular autopsy in sudden cardiac death and its implication for families: discussion of the practical, legal and ethical aspects of the multidisciplinary collaboration.

Sudden cardiac death (SCD) is a major cause of premature death in young adults and children in developed countries. Standard forensic autopsy procedures are often unsuccessful in determining the cause of SCD. Post-mortem genetic testing, also called molecular autopsy, has revealed that a non-negligible number of these deaths are a result of inherited cardiac diseases, including arrhythmic disorders such as congenital long QT syndrome and Brugada syndrome. Due to the heritability of these diseases, the potential implications for living relatives must be taken into consideration. Advanced diagnostic analyses, genetic counselling, and interdisciplinary collaboration should be integral parts of clinical and forensic practice. In this article we present a multidisciplinary collaboration established in Lausanne, with the goal of properly informing families of these pathologies and their implications for surviving family members. In Switzerland, as in many other countries, legal guidelines for genetic testing do not address the use of molecular tools for post-mortem genetic analyses in forensic practice. In this article we present the standard practice guidelines established by our multidisciplinary team

Two types of all-optical magnetization switching mechanisms using femtosecond laser pulses

Magnetization manipulation in the absence of an external magnetic field is a topic of great interest, since many novel physical phenomena need to be understood and promising new applications can be imagined. Cutting-edge experiments have shown the capability to switch the magnetization of magnetic thin films using ultrashort polarized laser pulses. In 2007, it was first observed that the magnetization switching for GdFeCo alloy thin films was helicity-dependent and later helicity-independent switching was also demonstrated on the same material. Recently, all-optical switching has also been discovered for a much larger variety of magnetic materials (ferrimagnetic, ferromagnetic films and granular nanostructures), where the theoretical models explaining the switching in GdFeCo films do not appear to apply, thus questioning the uniqueness of the microscopic origin of all-optical switching. Here, we show that two different all-optical switching mechanisms can be distinguished; a "single pulse" switching and a "cumulative" switching process whose rich microscopic origin is discussed. We demonstrate that the latter is a two-step mechanism; a heat-driven demagnetization followed by a helicity-dependent remagnetization. This is achieved by an all-electrical and time-dependent investigation of the all-optical switching in ferrimagnetic and ferromagnetic Hall crosses via the anomalous Hall effect, enabling to probe the all-optical switching on different timescales.Comment: 1 page, LaTeX; classified reference number

Two-fermion relativistic bound states in Light-Front Dynamics

In the Light-Front Dynamics, the wave function equations and their numerical solutions, for two fermion bound systems, are presented. Analytical expressions for the ladder one-boson exchange interaction kernels corresponding to scalar, pseudoscalar, pseudovector and vector exchanges are given. Different couplings are analyzed separately and each of them is found to exhibit special features. The results are compared with the non relativistic solutions.Comment: 40 pages, to be published in Phys. Rev. C, .tar.gz fil

Gaps analysis and requirements specification for the evolution of Copernicus system for polar regions monitoring: addressing the challenges in the horizon 2020-2030

This work was developed as part of the European H2020 ONION (Operational Network of Individual Observation Nodes) project, aiming at identifying the technological opportunity areas to complement the Copernicus space infrastructure in the horizon 2020–2030 for polar region monitoring. The European Earth Observation (EO) infrastructure is assessed through of comprehensive end-user need and data gap analysis. This review was based on the top 10 use cases, identifying 20 measurements with gaps and 13 potential EO technologies to cover the identified gaps. It was found that the top priority is the observation of polar regions to support sustainable and safe commercial activities and the preservation of the environment. Additionally, an analysis of the technological limitations based on measurement requirements was performed. Finally, this analysis was used for the basis of the architecture design of a potential polar mission.Peer ReviewedPostprint (published version

Manifestation of three-body forces in three-body Bethe-Salpeter and light-front equations

Bethe-Salpeter and light-front bound state equations for three scalar particles interacting by scalar exchange-bosons are solved in ladder truncation. In contrast to two-body systems, the three-body binding energies obtained in these two approaches differ significantly from each other: the ladder kernel in light-front dynamics underbinds by approximately a factor of two compared to the ladder Bethe-Salpeter equation. By taking into account three-body forces in the light-front approach, generated by two exchange-bosons in flight, we find that most of this difference disappears; for small exchange masses, the obtained binding energies coincide with each other.Comment: 24 pages, 8 figures, submitted in Few-Body System

Imaging thrombosis with 99mTc-labeled RAM.1-antibody in vivo.

Platelets play a major role in thrombo-embolic diseases, notably by forming a thrombus that can ultimately occlude a vessel. This may provoke ischemic pathologies such as myocardial infarction, stroke or peripheral artery diseases, which represent the major causes of death worldwide. The aim of this study was to evaluate the specificity of radiolabeled Rat-Anti-Mouse antibody (RAM.1).We describe a method to detect platelets by using a RAM.1 coupled with the chelating agent hydrazinonicotinic acid (HYNIC) conjugated toWe demonstrated a quick and strong affinity of the radiolabeled RAM.1 for the platelet thrombus. Results clearly demonstrated the ability of this radioimmunoconjugate for detecting thrombi from 10 min post injection with an exceptional thrombi uptake. Using FeClThanks to the high sensitivity of SPECT, we provided evidence that [journal articleresearch support, non-u.s. gov't2018 062018 03 17importe

Sonic hedgehog expressing and responding cells generate neuronal diversity in the medial amygdala

<p>Abstract</p> <p>Background</p> <p>The mammalian amygdala is composed of two primary functional subdivisions, classified according to whether the major output projection of each nucleus is excitatory or inhibitory. The posterior dorsal and ventral subdivisions of the medial amygdala, which primarily contain inhibitory output neurons, modulate specific aspects of innate socio-sexual and aggressive behaviors. However, the development of the neuronal diversity of this complex and important structure remains to be fully elucidated.</p> <p>Results</p> <p>Using a combination of genetic fate-mapping and loss-of-function analyses, we examined the contribution and function of <it>Sonic hedgehog </it>(<it>Shh</it>)-expressing and <it>Shh</it>-responsive (<it>Nkx2-1</it>⁺and <it>Gli1</it>⁺) neurons in the medial amygdala. Specifically, we found that <it>Shh- </it>and <it>Nkx2-1-</it>lineage cells contribute differentially to the dorsal and ventral subdivisions of the postnatal medial amygdala. These <it>Shh</it>- and <it>Nkx2-1</it>-lineage neurons express overlapping and non-overlapping inhibitory neuronal markers, such as Calbindin, FoxP2, nNOS and Somatostatin, revealing diverse fate contributions in discrete medial amygdala nuclear subdivisions. Electrophysiological analysis of the <it>Shh</it>-derived neurons additionally reveals an important functional diversity within this lineage in the medial amygdala. Moreover, inducible <it>Gli1^CreER(T2)</it>temporal fate mapping shows that early-generated progenitors that respond to <it>Shh </it>signaling also contribute to medial amygdala neuronal diversity. Lastly, analysis of <it>Nkx2-1 </it>mutant mice demonstrates a genetic requirement for <it>Nkx2-1 </it>in inhibitory neuronal specification in the medial amygdala distinct from the requirement for <it>Nkx2-1 </it>in cerebral cortical development.</p> <p>Conclusions</p> <p>Taken together, these data reveal a differential contribution of <it>Shh-</it>expressing and <it>Shh</it>-responding cells to medial amygdala neuronal diversity as well as the function of <it>Nkx2-1 </it>in the development of this important limbic system structure.</p

A comprehensive evaluation of colonic mucosal isolates of Sutterella wadsworthensis from inflammatory bowel disease

Peer reviewedPublisher PD

Study of relativistic bound states for scalar theories in Bethe-Salpeter and Dyson-Schwinger formalism

The Bethe-Salpeter equation for Wick-Cutkosky like models is solved in dressed ladder approximation. The bare vertex truncation of the Dyson-Schwinger equations for propagators is combined with the dressed ladder Bethe-Salpeter equation for the scalar S-wave bound state amplitudes. With the help of spectral representation the results are obtained directly in Minkowski space. We give a new analytic formula for the resulting equation simplifying the numerical treatment. The bare ladder approximation of Bethe-Salpeter equation is compared with the one with dressed ladder. The elastic electromagnetic form factors is calculated within the relativistic impulse approximation.Comment: 30 pages, 10 figures, accepted for publication in Phys. Rev.