Genetic testing in Marfan syndrome

Genetic testing is aiding rapid diagnosis of Marfan syndrome as a basis for management of eye, heart and skeletal disease. The affected patient's mutation can be used as a basis for prenatal or postnatal diagnosis of offspring. Preimplantation genetic diagnosis, the technique of choice, can ensure an unaffected pregnancy

An algebraic treatment of quantum vibrations using REDUCE

AbstractMany eigenvalue problems that arise in mathematical physics and chemistry can be solved using the algebra of non-commuting operators. REDUCE can readily be used to perform the many time consuming algebraic manipulations necessary to find the solutions to these problems. Applications of REDUCE are given to the quantum mechanical one and two dimensional nearly harmonic oscillator using an algebraic approach

Myocyte Swelling and Plasmalemmal Integrity During Early Experimental Myocardial Ischemia in vivo

Using scanning and transmission electron microscopy, the structure of myocytes early in the phase of irreversible injury induced by 40 minutes of severe regional ischemia has been investigated, paying particular attention to the effects of cell swelling on the SEM appearance of the myocytes. Swollen myocytes showed an increased space beneath the plasmalemma and between organelles. True subsarcolemmal blebs were not seen and the attachment complexes between the Z-band and the underlying myofibrils remained intact. The proportion of the PS face of the plasmalemma which appeared en face (0.70%, SD:1.22 vs 5.0196, SD:3.72) in freeze-fracture faces of ischemic tissue was increased significantly. The increase may be due to swelling of the cell in the subplasmalemmal space or may be mediated through structurally unapparent alterations in the cytoskeleton. The PS face showed frequent longitudinal shifts in the alignment of Z band-plasmalemmal attachment between adjacent myofibers. T-tubule ostia, caveolae and junctional SR were demonstrable on the PS face. With standard preparative methods and instrumentation, no discrete fibrillar network associated with Z band attachment or subjacent to the plasmalemma was detected and there was no direct structural evidence of cytoskeletal alteration as a result of ischemic injury. Osmium-ligand preparation of tissue samples resulted in less damage induced by the electron beam, but did not allow significantly better resolution

Optimal Economic Gas Turbine Dispatch with Deep Reinforcement Learning

Dispatching strategies for gas turbines (GTs) are changing in modern electricity grids. A growing incorporation of intermittent renewable energy requires GTs to operate more but shorter cycles and more frequently on partial loads. Deep reinforcement learning (DRL) has recently emerged as a tool that can cope with this development and dispatch GTs economically. The key advantages of DRL are a model-free optimization and the ability to handle uncertainties, such as those introduced by varying loads or renewable energy production. In this study, three popular DRL algorithms are implemented for an economic GT dispatch problem on a case study in Alberta, Canada. We highlight the benefits of DRL by incorporating an existing thermodynamic software provided by Siemens Energy into the environment model and by simulating uncertainty via varying electricity prices, loads, and ambient conditions. Among the tested algorithms and baseline methods, Deep Q-Networks (DQN) obtained the highest rewards while Proximal Policy Optimization (PPO) was the most sample efficient. We further propose and implement a method to assign GT operation and maintenance cost dynamically based on operating hours and cycles. Compared to existing methods, our approach better approximates the true cost of modern GT dispatch and hence leads to more realistic policies.Comment: This work has been accepted to IFAC for publication under a Creative Commons Licence CC-BY-NC-N

Estimation of individual genetic and environmental factor scores

Implicit in the application of the common‐factor model as a method for decomposing trait covariance into a genetic and environmental part is the use of factor scores. In multivariate analyses, it is possible to estimate these factor scores for the communal part of the model. Estimation of scores on latent factors in terms of individual observations within the context of a twin/family study amounts to estimation of individual genetic and environmental scores. Such estimates may be of both theoretical and practical interest and may be provided with confidence intervals around the individual estimates. The method is first illustrated with simulated twin data and next is applied to blood pressure data obtained in a Dutch sample of 59 male adolescent twin pairs. Subjects with high blood pressure can be distinguished into groups with high genetic or high environmental scores. Copyright © 1990 Wiley‐Liss, Inc., A Wiley Compan

Neutrino fluxes from CNO cycle in the Sun in the non stationary case with mixing

The computational analyses is presented of the non stationary case with mixing of the solar model when the neutrino flux $F_{13}$ from the decay of $^{13}N$ is higher than a standard solar model predictsComment: 6 pages, 3figure