OBSCN Mutations Associated with Dilated Cardiomyopathy and Haploinsufficiency

Studies of the functional consequences of DCM-causing mutations have been limited to a few cases where patients with known mutations had heart transplants. To increase the number of potential tissue samples for direct investigation we performed whole exon sequencing of explanted heart muscle samples from 30 patients that had a diagnosis of familial dilated cardiomyopathy and screened for potentially disease-causing mutations in 58 HCM or DCM-related genes.We identified 5 potentially disease-causing OBSCN mutations in 4 samples; one sample had two OBSCN mutations and one mutation was judged to be not disease-related. Also identified were 6 truncating mutations in TTN, 3 mutations in MYH7, 2 in DSP and one each in TNNC1, TNNI3, MYOM1, VCL, GLA, PLB, TCAP, PKP2 and LAMA4. The mean level of obscurin mRNA was significantly greater and more variable in healthy donor samples than the DCM samples but did not correlate with OBSCN mutations. A single obscurin protein band was observed in human heart myofibrils with apparent mass 960 ± 60 kDa. The three samples with OBSCN mutations had significantly lower levels of obscurin immunoreactive material than DCM samples without OBSCN mutations (45±7, 48±3, and 72±6% of control level).Obscurin levels in DCM controls, donor heart and myectomy samples were the same.OBSCN mutations may result in the development of a DCM phenotype via haploinsufficiency. Mutations in the obscurin gene should be considered as a significant causal factor of DCM, alone or in concert with other mutations

Fourier series of atomic radial distribution functions: A molecular fingerprint for machine learning models of quantum chemical properties

We introduce a fingerprint representation of molecules based on a Fourier series of atomic radial distribution functions. This fingerprint is unique (except for chirality), continuous, and differentiable with respect to atomic coordinates and nuclear charges. It is invariant with respect to translation, rotation, and nuclear permutation, and requires no pre-conceived knowledge about chemical bonding, topology, or electronic orbitals. As such it meets many important criteria for a good molecular representation, suggesting its usefulness for machine learning models of molecular properties trained across chemical compound space. To assess the performance of this new descriptor we have trained machine learning models of molecular enthalpies of atomization for training sets with up to 10k organic molecules, drawn at random from a published set of 134k organic molecules. We validate the descriptor on all remaining molecules of the 134k set. For a training set of 5k molecules the fingerprint descriptor achieves a mean absolute error of 8.0 kcal/mol, respectively. This is slightly worse than the performance attained using the Coulomb matrix, another popular alternative, reaching 6.2 kcal/mol for the same training and test sets

Scintillation light produced by low-energy beams of highly-charged ions

Measurements have been performed of scintillation light intensities emitted from various inorganic scintillators irradiated with low-energy beams of highly-charged ions from an electron beam ion source (EBIS) and an electron cyclotron resonance ion source (ECRIS). Beams of xenon ions Xe$^{q+}$ with various charge states between $q$=2 and $q$=18 have been used at energies between 5 keV and 17.5 keV per charge generated by the ECRIS. The intensity of the beam was typically varied between 1 and 100 nA. Beams of highly charged residual gas ions have been produced by the EBIS at 4.5 keV per charge and with low intensities down to 100 pA. The scintillator materials used are flat screens of P46 YAG and P43 phosphor. In all cases, scintillation light emitted from the screen surface was detected by a CCD camera. The scintillation light intensity has been found to depend linearly on the kinetic ion energy per time deposited into the scintillator, while up to $q$=18 no significant contribution from the ions' potential energy was found. We discuss the results on the background of a possible use as beam diagnostics e.g. for the new HITRAP facility at GSI, Germany.Comment: 6 pages, 8 figure

Endoprotézis beültetés hatásának biomechanikai elemzése in-vivo mozgáselemzéssel = Biomechanical analysis of effect of endoprothesis with in vivo motion analysis

I. Megteremtettük a komplex biomechanikai mozgáselemzés rendszert, amely alkalmas a járás, a hirtelen irányváltoztatásra történő reagálás, a vállízület mozgásainak elemzésére, valamint a protézisek kilazulásának mérésére. II. Az idős egészséges személyek adatbankja több járássebesség esetén tartalmazza a távolság-idő, szögjellegű és alakváltozás-jellegű paramétereket, valamint azok változékonyságát leíró relatív szórásokat, továbbá a kinesztézist jellemző paramétereket. III. Elvégeztük a csípőízületi arthrosissal rendelkező, protézis beültetésen átesett betegek komplex mozgásvizsgálatát, az eredményeket összehasonlítottunk az egészséges kontrollcsoport eredményeivel. Megállapítottuk, hogy az antero-laterális feltárási móddal az egészséges mozgáskép hamarabb elérhető. IV. Elvégeztük a térdízületi arthrosissal rendelkező, a protézis beültetésen átesett betegek komplex mozgásvizsgálatát, az eredményeket összehasonlítottunk az egészséges kontrollcsoport eredményeivel. Megállapítottuk, hogy a minimal-invazív feltárási móddal az egészséges mozgáskép hamarabb elérhető. V. Elvégeztük a multidirekcionális vállízületi instabilitással rendelkező betegek mozgásvizsgálatát műtét/konzervatív kezelés előtt, melyeket összehasonlítottunk az egészségesek eredményeivel. Az egészséges vállízületi mozgás csak műtéti úton rekonstruálható. A vállízületi arthrosis szignifikánsan megváltoztatja a mozgásképet, a két típusú protézis biomechanikai hatása szignifikánsan eltérő. | I. A complex biomechanical motion analysis system was created, which is suitable for the modeling of gait, stepping, provocation, for analyzing shoulder motion and for measuring endoprothesis migration. II. The data bank of elderly, healthy subjects includes spatio-temporal, angular and deflection parameters and their coefficients of variance at different gait speeds, as well as the parameters modeling kinesthesis. III. The complex motion analysis of patients with hip osteoarthrithis was executed before and after total hip reconstruction, and compared with the data of the control group. The gait of patients operated by the antero-lateral inclusion method became similar to the gait of healthy subjects earlier. IV. The complex motion analysis of patients with knee osteoarthrithis was executed before and after total knee reconstruction, and compared with the data of the control group. The gait of patients operated by the minimal invasive inclusion method became similar to the gait of healthy subjects earlier. V. The motion analysis of patients with multidirectional shoulder instability was executed before conservative / surgical treatment and compared to the data of controls. Healthy motion could be restored only by surgery. Shoulder arthrosis significantly influenced shoulder motion, and the biomechanical effects of the two different types of endoprosthesis significantly differ from each other

Perception-Action Coupling Target Tracking Control for a Snake Robot via Reinforcement Learning

Visual-guided locomotion for snake-like robots is a challenging task, since it involves not only the complex body undulation with many joints, but also a joint pipeline that connects the vision and the locomotion. Meanwhile, it is usually difficult to jointly coordinate these two separate sub-tasks as this requires time-consuming and trial-and-error tuning. In this paper, we introduce a novel approach for solving target tracking tasks for a snake-like robot as a whole using a model-free reinforcement learning (RL) algorithm. This RL-based controller directly maps the visual observations to the joint positions of the snake-like robot in an end-to-end fashion instead of dividing the process into a series of sub-tasks. With a novel customized reward function, our RL controller is trained in a dynamically changing track scenario. The controller is evaluated in four different tracking scenarios and the results show excellent adaptive locomotion ability to the unpredictable behavior of the target. Meanwhile, the results also prove that the RL-based controller outperforms the traditional model-based controller in terms of tracking accuracy

Characterization of the Hamamatsu S8664 Avalanche Photodiode for X-Ray and VUV-light detection

We present the first operation of the Avalanche Photodiode (APD) from Hamamatsu to xenon scintillation light and to direct X-rays of 22.1 keV and 5.9 keV. A large non-linear response was observed for the direct X-ray detection. At 415 V APD bias voltage it was of about 30 % for 22.1 keV and about 45 % for 5.9 keV. The quantum efficiency for 172 nm photons has been measured to be 69 +/- 15 %.Comment: 11 pages, 3 figures, submitted to Elsevie

Dissipation-driven generation of two-qubit entanglement mediated by plasmonic waveguides

We study the generation of entanglement between two distant qubits mediated by the surface plasmons of a metallic waveguide. We show that a V-shaped channel milled in a flat metallic surface is much more efficient for this purpose than a metallic cylinder. The role of the misalignments of the dipole moments of the qubits, an aspect of great importance for experimental implementations, is also studied. A careful analysis of the quantum-dynamics of the system by means of a master equation shows that two-qubit entanglement generation is essentially due to the dissipative part of the effective qubit-qubit coupling provided by the surface plasmons. The influence of a coherent external pumping, needed to achieve a steady state entanglement, is discussed. Finally, we pay attention to the question of how to get information experimentally on the degree of entanglement achieved in the system.Comment: 13 pages, 12 figure

Joint Elastic Side-Scattering Lidar and Raman Lidar Measurements of Aerosol Optical Properties in South East Colorado

We describe an experiment, located in south-east Colorado, USA, that measured aerosol optical depth profiles using two Lidar techniques. Two independent detectors measured scattered light from a vertical UV laser beam. One detector, located at the laser site, measured light via the inelastic Raman backscattering process. This is a common method used in atmospheric science for measuring aerosol optical depth profiles. The other detector, located approximately 40km distant, viewed the laser beam from the side. This detector featured a 3.5m2 mirror and measured elastically scattered light in a bistatic Lidar configuration following the method used at the Pierre Auger cosmic ray observatory. The goal of this experiment was to assess and improve methods to measure atmospheric clarity, specifically aerosol optical depth profiles, for cosmic ray UV fluorescence detectors that use the atmosphere as a giant calorimeter. The experiment collected data from September 2010 to July 2011 under varying conditions of aerosol loading. We describe the instruments and techniques and compare the aerosol optical depth profiles measured by the Raman and bistatic Lidar detectors.Comment: 34 pages, 16 figure

Flexographic printing of ultra-thin semiconductor polymer layers

Methods of fabricating and controlling organic light emitting diode (OLED) or photovoltaic layers effectively are paramount for achieving a functional and durable device. The deposited film needs to be uniform and homogeneous to avoid non-uniform luminescence in the OLED. Although methods of depositing the ultra-thin sub 100 nm layers within OLED are effective, they are relatively slow and expensive. This paper therefore demonstrates flexography as an alternative method for depositing the semiconductor layer for OLED onto glass substrate. In this case a proprietary semiconducting polyflourine dispersed in xylene was used. This material functions as the hole injecting layer. The low polymer concentration and requirement for aromatic solvent presented challenges for the process; conventional photopolymer printing plates degraded rapidly on contact with xylene and rubber printing plates were found to be sufficiently resilient. Through optimisation of printing parameters and surface modification of both the printing plate and substrate with UV/ozone exposure, a consistent sub-100 nm film was achieved. Flexographic printing will enable a substantial reduction in layer fabrication time, as well as allowing roll to roll mass production at lower cost. The research indicated within this paper will aid the progression of flexography as a viable cost effective method for OLED or display technology application through continuous printing of ultra-thin layers