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https://www.readbyqxmd.com/read/29050398/delineating-sptan1-associated-phenotypes-from-isolated-epilepsy-to-encephalopathy-with-progressive-brain-atrophy
#1
Steffen Syrbe, Frederike L Harms, Elena Parrini, Martino Montomoli, Ulrike Mütze, Katherine L Helbig, Tilman Polster, Beate Albrecht, Ulrich Bernbeck, Ellen van Binsbergen, Saskia Biskup, Lydie Burglen, Jonas Denecke, Bénédicte Heron, Henrike O Heyne, Georg F Hoffmann, Frauke Hornemann, Takeshi Matsushige, Ryuki Matsuura, Mitsuhiro Kato, G Christoph Korenke, Alma Kuechler, Constanze Lämmer, Andreas Merkenschlager, Cyril Mignot, Susanne Ruf, Mitsuko Nakashima, Hirotomo Saitsu, Hannah Stamberger, Tiziana Pisano, Jun Tohyama, Sarah Weckhuysen, Wendy Werckx, Julia Wickert, Francesco Mari, Nienke E Verbeek, Rikke S Møller, Bobby Koeleman, Naomichi Matsumoto, William B Dobyns, Domenica Battaglia, Johannes R Lemke, Kerstin Kutsche, Renzo Guerrini
De novo in-frame deletions and duplications in the SPTAN1 gene, encoding the non-erythrocyte αII spectrin, have been associated with severe West syndrome with hypomyelination and pontocerebellar atrophy. We aimed at comprehensively delineating the phenotypic spectrum associated with SPTAN1 mutations. Using different molecular genetic techniques, we identified 20 patients with a pathogenic or likely pathogenic SPTAN1 variant and reviewed their clinical, genetic and imaging data. SPTAN1 de novo alterations included seven unique missense variants and nine in-frame deletions/duplications of which 12 were novel...
September 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29049892/velocity-of-the-muscle-tendon-unit-is-sex-dependent-and-not-altered-with-acute-static-stretch
#2
Carey L Simpson, Rowan R Smart, Dylan Ee Melady, Jennifer M Jakobi
Contraction velocity of a muscle tendon unit (MTU) is dependent upon the interrelationship between fascicles shortening and the tendon lengthening. Altering the mechanical properties of these tissues through a perturbation such as static stretching slows force generation. Females, who have inherently greater compliance compared with males have slower velocity of MTU components. The addition of a static stretch might further exacerbate this sex difference. The purpose of this study was to investigate the velocity of fascicle shortening and tendon lengthening in males and females during isometric maximal voluntary contraction (MVC) of the plantar flexors prior to and following an acute static stretch...
October 19, 2017: Applied Physiology, Nutrition, and Metabolism, Physiologie Appliquée, Nutrition et Métabolisme
https://www.readbyqxmd.com/read/29049299/evans-blue-dye-enhanced-imaging-of-the-brain-microvessels-using-spectral-focusing-coherent-anti-stokes-raman-scattering-microscopy
#3
Bo-Ram Lee, Kyung-Il Joo, Eun Sook Choi, Junghoon Jahng, Hyunmin Kim, Eunjoo Kim
We performed dye-enhanced imaging of mouse brain microvessels using spectral focusing coherent anti-Stokes Raman scattering (SF-CARS) microscopy. The resonant signals from C-H stretching in forward CARS usually show high background intensity in tissues, which makes CARS imaging of microvessels difficult. In this study, epi-detection of back-scattered SF-CARS signals showed a negligible background, but the overall intensity of resonant CARS signals was too low to observe the network of brain microvessels. Therefore, Evans blue (EB) dye was used as contrasting agent to enhance the back-scattered SF-CARS signals...
2017: PloS One
https://www.readbyqxmd.com/read/29048899/matrix-infrared-spectra-of-insertion-and-metallacyclopropane-complexes-ch3ch2-mh-and-ch2-2-mh2-prepared-in-reactions-of-laser-ablated-group-3-metal-atoms-with-ethane
#4
Han-Gook Cho, Lester Andrews
CH3CH2-MH and (CH2)2-MH2 were identified in the matrix IR spectra from reactions of laser-ablated group 3 metal atoms with ethane, and were characterized via theoretical investigations. The observed products are the most stable in the previously proposed reaction path. Due to the small number of valence electrons, the group 3 metal high oxidation-state complexes are less stable. The C-C insertion product [(CH3)2M], which was predicted to be more stable than the observed ones, but it was not observed probably because of the high energy barrier and a likely slower rate for insertion into one C-C bond than one of six C-H bonds...
October 19, 2017: Journal of Physical Chemistry. A
https://www.readbyqxmd.com/read/29047794/optical-sensor-system-for-time-resolved-quantification-of-methane-densities-in-ch4-fueled-spark-ignition-engines
#5
Kai Golibrzuch, Finn-Erik Digulla, Stephan Bauke, Hainer Wackerbarth, Olaf Thiele, Thomas Berg
We present the development and the first application of an optical sensor system that allows single-cycle determination of methane (CH4) concentration inside internal combustion (IC) engines. We use non-dispersive infrared absorption spectroscopy to detect the CH4 density with a time resolution up to 33 μs at acquisition rates of 30 kHz. The measurement scheme takes advantage of the strong temperature dependence of the absorption band applying two detection channels for CH4 that detect different spectral regions of the ν3 anti-symmetric C-H-stretch absorption...
August 1, 2017: Applied Optics
https://www.readbyqxmd.com/read/29047690/frequency-dependent-noise-figure-analysis-of-continuous-photonic-time-stretch-system
#6
Boyu Xu, Changqiao Liu, Xiaofeng Jin, Xiangdong Jin, Xianbin Yu, Hao Chi, Shilie Zheng, Xianmin Zhang
In this paper, the frequency-dependent noise figure of a continuous photonic time-stretch system is theoretically analyzed and experimentally demonstrated. Mathematic analysis discloses that the frequency-dependent noise figure in the continuous photonic time-stretch system is mainly owing to the dispersion-induced phase shift in the link. In the experiment, a completely continuous signal is reconstructed with time-interleaved joining of four sections of time-stretched signals from optical wavelength-division de-multiplexing channels...
October 10, 2017: Applied Optics
https://www.readbyqxmd.com/read/29047378/comparison-of-strain-parameters-in-dyssynchronous-heart-failure-between-speckle-tracking-echocardiography-vendor-systems
#7
Wouter M van Everdingen, Alexander H Maass, Kevin Vernooy, Mathias Meine, Cornelis P Allaart, Frederik J De Lange, Arco J Teske, Bastiaan Geelhoed, Michiel Rienstra, Isabelle C Van Gelder, Marc A Vos, Maarten J Cramer
BACKGROUND: Although mechanical dyssynchrony parameters derived by speckle tracking echocardiography (STE) may predict response to cardiac resynchronization therapy (CRT), comparability of parameters derived with different STE vendors is unknown. METHODS: In the MARC study, echocardiographic images of heart failure patients obtained before CRT implantation were prospectively analysed with vendor specific STE software (GE EchoPac and Philips QLAB) and vendor-independent software (TomTec 2DCPA)...
October 18, 2017: Cardiovascular Ultrasound
https://www.readbyqxmd.com/read/29047318/spontaneous-spinal-epidural-hemorrhage-following-disseminated-intravascular-coagulation-resulting-in-paraplegia-a-case-report
#8
Nazia Dildar, Saeed Bin Ayaz, Muhammad Omer Aamir, Nadeem Ahmad
CONTEXT: Spontaneous spinal epidural hemorrhage (SSEH) mostly presents as low back pain with or without a radiculopathy, and rarely with paraplegia or tetraplegia depending on the site and severity of spinal cord compression. We present here a case who had anemia and developed paraplegia following disseminated intravascular coagulation (DIC) due to a transfusion reaction. FINDINGS: A 65-year-old lady presented with sudden onset chest pain radiating to nape of the neck followed by loss of sensations and power in legs few hours after a blood transfusion...
October 19, 2017: Journal of Spinal Cord Medicine
https://www.readbyqxmd.com/read/29046775/effect-of-preoperative-incentive-spirometry-on-fentanyl-induced-cough-a-prospective-randomized-controlled-study
#9
Vipin Kumar Goyal, Suresh Kumar Bhargava, Birbal Baj
BACKGROUND: Fentanyl-induced cough (FIC) has a reported incidence of 13-65% on induction of anesthesia. Incentive spirometry (IS) creates forceful inspiration, while stretching pulmonary receptors. We postulated that spirometry just before the fentanyl (F) bolus would decrease the incidence and severity of FIC. METHODS: This study enrolled 200 patients aged 18-60 years and with American Society of Anesthesiologists status I or II. The patients were allocated to two groups of 100 patients each depending on whether they received preoperative incentive spirometry before fentanyl administration...
October 2017: Korean Journal of Anesthesiology
https://www.readbyqxmd.com/read/29046624/designing-thin-ultrastretchable-electronics-with-stacked-circuits-and-elastomeric-encapsulation-materials
#10
Renxiao Xu, Jung Woo Lee, Taisong Pan, Siyi Ma, Jiayi Wang, June Hyun Han, Yinji Ma, John A Rogers, Yonggang Huang
Many recently developed soft, skin-like electronics with high performance circuits and low modulus encapsulation materials can accommodate large bending, stretching, and twisting deformations. Their compliant mechanics also allows for intimate, nonintrusive integration to the curvilinear surfaces of soft biological tissues. By introducing a stacked circuit construct, the functional density of these systems can be greatly improved, yet their desirable mechanics may be compromised due to the increased overall thickness...
January 26, 2017: Advanced Functional Materials
https://www.readbyqxmd.com/read/29045871/mapping-cell-membrane-fluctuations-reveals-their-active-regulation-and-transient-heterogeneities
#11
Arikta Biswas, Amal Alex, Bidisha Sinha
Shape fluctuations of the plasma membrane occur in all cells, are incessant, and are proposed to affect membrane functioning. Although studies show how membrane fluctuations are affected by cellular activity in adherent cells, their spatial regulation and the corresponding change in membrane mechanics remain unclear. In this article, we study how ATP-driven activities and actomyosin cytoskeleton impact basal membrane fluctuations in adherent cells. Using interference imaging, we map height fluctuations within single cells and compare the temporal spectra with existing theoretical models to gain insights about the underlying membrane mechanics...
October 17, 2017: Biophysical Journal
https://www.readbyqxmd.com/read/29045860/mechanics-and-buckling-of-biopolymeric-shells-and-cell-nuclei
#12
Edward J Banigan, Andrew D Stephens, John F Marko
We study a Brownian dynamics simulation model of a biopolymeric shell deformed by axial forces exerted at opposing poles. The model exhibits two distinct, linear force-extension regimes, with the response to small tensions governed by linear elasticity and the response to large tensions governed by an effective spring constant that scales with radius as R(-0.25). When extended beyond the initial linear elastic regime, the shell undergoes a hysteretic, temperature-dependent buckling transition. We experimentally observe this buckling transition by stretching and imaging the lamina of isolated cell nuclei...
October 17, 2017: Biophysical Journal
https://www.readbyqxmd.com/read/29045424/cats-and-owners-interact-more-with-each-other-after-a-longer-duration-of-separation
#13
Matilda Eriksson, Linda J Keeling, Therese Rehn
Little is known about the cat's (Felis silvestris catus) need for human contact, although it is generally believed that cats are more independent pets than e.g. dogs. In this study, we investigated the effect of time left alone at home on cat behaviour (e.g. social and distress-related) before, during and after separation from their owner. Fourteen privately owned cats (single-housed) were each subjected to two treatments: the cat was left alone in their home environment for 30 min (T0.5) and for 4 h (T4). There were no differences between treatments in the behaviour of the cat (or owner) before owner departure, nor during the first 5 min of separation...
2017: PloS One
https://www.readbyqxmd.com/read/29045323/effects-of-a-long-term-physical-activity-program-on-activity-patterns-in-older-adults
#14
Amal A Wanigatunga, Catrine Tudor-Locke, Robert S Axtell, Nancy W Glynn, Abby C King, Mary M McDermott, Roger A Fielding, Xiaomin Lu, Marco Pahor, Todd M Manini
PURPOSE: To examine the effect of a long-term structured physical activity (PA) intervention on accelerometer-derived metrics of activity pattern changes in mobility-impaired older adults. METHODS: Participants were randomized to either a PA or health education (HE) program. The PA intervention included a walking regimen with strength, flexibility, and balance training. The HE program featured health-related discussions and a brief upper body stretching routine...
November 2017: Medicine and Science in Sports and Exercise
https://www.readbyqxmd.com/read/29044939/synthesis-and-characterization-of-high-quantum-yield-and-oscillator-strength-6-chloro-2-4-cynophenyl-4-phenyl-quinoline-cl-cn-dpq-organic-phosphor-for-solid-state-lighting
#15
Minakshi Ghate, H K Dahule, N Thejo Kalyani, S J Dhoble
A novel blue luminescent 6-chloro-2-(4-cynophenyl) substituted diphenyl quinoline (Cl-CN DPQ) organic phosphor has been synthesized by the acid-catalyzed Friedlander reaction and then characterized to confirm structural, optical and thermal properties. Structural properties of Cl-CN-DPQ were analyzed by Fourier transform infrared (FTIR), nuclear magnetic resonance (NMR) spectroscopy, X-ray diffraction technique (XRD) and scanning electron microscopy (SEM) and energy dispersive analysis of X-ray (EDAX) spectroscopy...
October 18, 2017: Luminescence: the Journal of Biological and Chemical Luminescence
https://www.readbyqxmd.com/read/29044879/exercise-therapy-for-trismus-secondary-to-head-and-neck-cancer-a-systematic-review
#16
Jolanda I Kamstra, Marianne van Leeuwen, Jan L N Roodenburg, Pieter U Dijkstra
BACKGROUND: Effects of exercise therapy for trismus secondary to head and neck cancer have not been reviewed systematically since 2004. METHODS: Four databases were searched. The quality of observational studies and randomized controlled trials was assessed. RESULTS: Two hundred eleven articles were found, 20 studies were included. A large variation in research methodology, stretching techniques, duration of stretch, and repetition of exercises was found...
November 2017: Head & Neck
https://www.readbyqxmd.com/read/29044284/buckling-patterns-in-biaxially-pre-stretched-bilayer-shells-wrinkles-creases-folds-and-fracture-like-ridges
#17
Rashed Al-Rashed, Francisco López Jiménez, Joel Marthelot, Pedro M Reis
We introduce a new experimental system to study the effects of pre-stretch on the buckling patterns that emerge from the biaxial compression of elastomeric bilayer shells. Upon fabrication of the samples, releasing the pre-stretch in the substrate through deflation places the outer film in a state of biaxial compression and yields a variety of buckling patterns. We systematically explore the parameter space by varying the pre-stretch of the substrate and the ratio between the stiffness of the substrate and film...
October 18, 2017: Soft Matter
https://www.readbyqxmd.com/read/29043801/compressibility-anomalies-in-stretched-water-and-their-interplay-with-density-anomalies
#18
Vincent Holten, Chen Qiu, Emmanuel Guillerm, Max Wilke, Jaroslav Ricka, Martin Frenz, Frédéric Caupin
Water keeps puzzling scientists because of its numerous properties which behave oppositely to usual liquids: for instance, water expands upon cooling, and liquid water is denser than ice. To explain this anomalous behaviour, several theories have been proposed, with different predictions for the properties of supercooled water (liquid at conditions where ice is stable). However, discriminating between those theories with experiments has remained elusive because of spontaneous ice nucleation. Here we measure the sound velocity in liquid water stretched to negative pressure, and derive an experimental equation of state, which reveals compressibility anomalies...
October 18, 2017: Journal of Physical Chemistry Letters
https://www.readbyqxmd.com/read/29043794/dynamic-transition-from-%C3%AE-helices-to-%C3%AE-sheets-in-polypeptide-coiled-coil-motifs
#19
Kirill A Minin, Artem Zhmurov, Kenneth A Marx, Prashant K Purohit, Valeri Barsegov
We carried out dynamic force manipulations in silico on a variety of coiled-coil protein fragments from myosin, chemotaxis receptor, vimentin, fibrin, and phenylalanine zippers that vary in size and topology of their α-helical packing. When stretched along the superhelical axis, all superhelices show elastic, plastic, and inelastic elongation regimes, and undergo a dynamic transition from the α-helices to the β-sheets, which marks the onset of plastic deformation. Using Abeyaratne-Knowles formulation of phase transitions, we developed a new theoretical methodology to model mechanical and kinetic properties of protein coiled-coils under mechanical non-equilibrium conditions and to map out their energy landscapes...
October 18, 2017: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/29043636/analysis-of-de-novo-telomere-addition-by-southern-blot
#20
Diego Bonetti, Maria Pia Longhese
Telomere length is maintained in most eukaryotes by the action of a specialized enzyme, the telomerase. However, the complexity of mechanisms regulating telomeric DNA length as well as the heterogeneity in length of each telomere in a population of cells has made it very difficult to understand how telomerase is regulated in vivo. Here, we describe a method developed in Saccharomyces cerevisiae to monitor the addition of telomeric sequences to a single newly generated telomere in vivo. The primary strain consists of a HO endonuclease cleavage site that is placed directly adjacent to an 81-base-pair stretch of telomeric DNA inserted into the ADH4 locus of chromosome VII...
2018: Methods in Molecular Biology
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