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https://www.readbyqxmd.com/read/29053860/clinicopathological-correlations-in-behavioural-variant-frontotemporal-dementia
#1
David C Perry, Jesse A Brown, Katherine L Possin, Samir Datta, Andrew Trujillo, Anneliese Radke, Anna Karydas, John Kornak, Ana C Sias, Gil D Rabinovici, Maria Luisa Gorno-Tempini, Adam L Boxer, Mary De May, Katherine P Rankin, Virginia E Sturm, Suzee E Lee, Brandy R Matthews, Aimee W Kao, Keith A Vossel, Maria Carmela Tartaglia, Zachary A Miller, Sang Won Seo, Manu Sidhu, Stephanie E Gaus, Alissa L Nana, Jose Norberto S Vargas, Ji-Hye L Hwang, Rik Ossenkoppele, Alainna B Brown, Eric J Huang, Giovanni Coppola, Howard J Rosen, Daniel Geschwind, John Q Trojanowski, Lea T Grinberg, Joel H Kramer, Bruce L Miller, William W Seeley
Accurately predicting the underlying neuropathological diagnosis in patients with behavioural variant frontotemporal dementia (bvFTD) poses a daunting challenge for clinicians but will be critical for the success of disease-modifying therapies. We sought to improve pathological prediction by exploring clinicopathological correlations in a large bvFTD cohort. Among 438 patients in whom bvFTD was either the top or an alternative possible clinical diagnosis, 117 had available autopsy data, including 98 with a primary pathological diagnosis of frontotemporal lobar degeneration (FTLD), 15 with Alzheimer's disease, and four with amyotrophic lateral sclerosis who lacked neurodegenerative disease-related pathology outside of the motor system...
October 6, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29052568/genetic-testing-of-the-mucin-1-gene-variable-number-tandem-repeat-single-cytosine-insertion-mutation-in-a-chinese-family-with-medullary-cystic-kidney-disease
#2
Nuo Si, Ke Zheng, Jie Ma, Xiao-Lu Meng, Xue-Mei Li, Xue Zhang
BACKGROUND: Medullary cystic kidney disease (MCKD) is clinically indistinguishable from several other autosomal-dominant renal diseases; thus, molecular genetic testing is needed to establish a definitive diagnosis. A specific type of single cytosine insertion in the variable number tandem repeat (VNTR) of the mucin 1 (MUC1) gene is the only known cause of MCKD1; however, genetic analysis of this mutation is difficult and not yet offered routinely. To identify the causative mutation/s and establish a definitive diagnosis in a Chinese family with chronic kidney disease, clinical assessments and genetic analysis were performed, including using a modified genotyping method to identify the MUC1- VNTR single cytosine insertion...
October 20, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/29052144/the-effects-of-extracellular-serum-concentration-on-app-processing-in-npc1-deficient-app-overexpressing-n2a-cells
#3
M Maulik, D Vergote, G Phukan, J Chung, G Thinakaran, S Kar
Amyloid precursor protein (APP) is cleaved by a set of proteases including α-/β-/γ- and recently identified η-secretases, generating C-terminal fragments (CTFs) of varying lengths and amyloid β (Aβ) peptides, which are considered to play a pivotal role in Alzheimer's disease (AD) pathogenesis. Cellular cholesterol content/distribution can regulate the production/clearance of APP metabolites and hence modify AD pathology. To determine the functional relation between endosomal-lysosomal (EL) cholesterol sequestration and APP metabolism, we used our recently developed mouse N2a-ANPC cells that overexpress Swedish mutant human APP in the absence of cholesterol-trafficking Niemann-Pick type C1 (Npc1) protein...
October 19, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/29051771/prevalence-predictors-and-economic-burden-of-morbidities-among-waste-pickers-of-mumbai-india-a-cross-sectional-study
#4
Praveen Chokhandre, Shrikant Singh, Gyan Chandra Kashyap
BACKGROUND: The occupation of waste-picking characterised as 3Ds - dangerous, drudgery and demanding. In this context, the study aimed to assess occupational morbidities among the waste-pickers and attempts to identify potential individual level risk factors enhancing health risks. Additionally, economic burden of morbidities has been assessed. METHODS: The burden of the morbidities was assessed and compared with a comparison group through a cross-sectional survey...
2017: Journal of Occupational Medicine and Toxicology
https://www.readbyqxmd.com/read/29050278/identification-of-core-genes-and-outcome-in-gastric-cancer-using-bioinformatics-analysis
#5
Chenhua Sun, Qi Yuan, Dongdong Wu, Xiaohu Meng, Baolin Wang
Gastric cancer (GC) is a common malignant neoplasm of gastrointestinal tract. We chose gene expression profile of GSE54129 from GEO database aiming to find key genes during the occurrence and development of GC. 132 samples, including 111 cancer and 21 normal gastric mucosa epitheliums, were included in this analysis. Differentially expressed genes (DEGs) between GC patients and health people were picked out using GEO2R tool, then we performed gene ontology (GO) analysis and Kyoto Encyclopedia of Gene and Genome (KEGG) pathway analysis using The Database for Annotation, Visualization and Integrated Discovery (DAVID)...
September 19, 2017: Oncotarget
https://www.readbyqxmd.com/read/29049971/food-addiction-prevalence-psychopathological-correlates-and-associations-with-quality-of-life-in-a-large-sample
#6
Paulo R Nunes-Neto, Cristiano A Köhler, Felipe B Schuch, Marco Solmi, João Quevedo, Michael Maes, Andrea Murru, Eduard Vieta, Roger S McIntyre, Susan L McElroy, Ashley N Gearhardt, Brendon Stubbs, André F Carvalho
OBJECTIVE: To determine the prevalence of food addiction in a large Brazilian non-clinical sample. Sociodemographic and psychopathological correlates of food addiction as well as associations with quality (QoL) domains were also investigated. METHODS: This cross-sectional study obtained data from a Brazilian anonymous web-based research platform (N = 7639; 71.3% females). Participants provided sociodemographic data and completed the modified Yale Food Addiction Scale 2...
October 12, 2017: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/29049594/the-perceptual-dimensions-of-natural-dynamic-flow
#7
Yaniv Morgenstern, Daniel J Kersten
We measured perceptual judgments of category, material attributes, affordances, and similarity to investigate the perceptual dimensions underlying the visual representation of a broad class of natural dynamic flows (sea waves, smoke, and windblown foliage). The dynamic flows were looped 3-s movies windowed with circular apertures of two sizes to manipulate the level of spatial context. In low levels of spatial context (smaller apertures), human observers' judgments of material attributes and affordances were inaccurate, with estimates biased toward assumptions that the flows resulted from objects that were rigid, "pick-up-able," and not penetrable...
October 1, 2017: Journal of Vision
https://www.readbyqxmd.com/read/29047754/scene-reassembly-after-multimodal-digitization-and-pipeline-evaluation-using-photorealistic-rendering
#8
Jonathan Dyssel Stets, Alessandro Dal Corso, Jannik Boll Nielsen, Rasmus Ahrenkiel Lyngby, Sebastian Hoppe Nesgaard Jensen, Jakob Wilm, Mads Brix Doest, Carsten Gundlach, Eythor Runar Eiriksson, Knut Conradsen, Anders Bjorholm Dahl, Jakob Andreas Bærentzen, Jeppe Revall Frisvad, Henrik Aanæs
Transparent objects require acquisition modalities that are very different from the ones used for objects with more diffuse reflectance properties. Digitizing a scene where objects must be acquired with different modalities requires scene reassembly after reconstruction of the object surfaces. This reassembly of a scene that was picked apart for scanning seems unexplored. We contribute with a multimodal digitization pipeline for scenes that require this step of reassembly. Our pipeline includes measurement of bidirectional reflectance distribution functions and high dynamic range imaging of the lighting environment...
September 20, 2017: Applied Optics
https://www.readbyqxmd.com/read/29047377/cognitive-impairment-profile-in-adult-patients-with-niemann-pick-type-c-disease
#9
Camille Heitz, Stéphane Epelbaum, Yann Nadjar
BACKGROUND: Cognitive impairment is one of the core symptoms of Niemann Pick type C (NPC) disease, but few data concerning the neuropsychological profile of NPC patients are available. The aim of our study was to characterize cognitive impairments in NPC disease and to assess the evolution of these symptoms and the impact of miglustat on cognitive follow-up. METHODS: We conducted a retrospective study of 21 adult patients diagnosed with NPC disease. Neuropsychological data (global cognitive efficiency, language, attention, executive functions, praxis, and visuoconstructive functions tests) were retrieved to describe the cognitive profile of patients...
October 18, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29046632/a-developmental-learning-approach-of-mobile-manipulator-via-playing
#10
Ruiqi Wu, Changle Zhou, Fei Chao, Zuyuan Zhu, Chih-Min Lin, Longzhi Yang
Inspired by infant development theories, a robotic developmental model combined with game elements is proposed in this paper. This model does not require the definition of specific developmental goals for the robot, but the developmental goals are implied in the goals of a series of game tasks. The games are characterized into a sequence of game modes based on the complexity of the game tasks from simple to complex, and the task complexity is determined by the applications of developmental constraints. Given a current mode, the robot switches to play in a more complicated game mode when it cannot find any new salient stimuli in the current mode...
2017: Frontiers in Neurorobotics
https://www.readbyqxmd.com/read/29046459/hepatitis-c-virus-replication-depends-on-endosomal-cholesterol-homeostasis
#11
Ina Karen Stoeck, Ji-Young Lee, Keisuke Tabata, Inés Romero-Brey, David Paul, Philipp Schult, Volker Lohmann, Lars Kaderali, Ralf Bartenschlager
Similar to other positive-strand RNA viruses, hepatitis C virus (HCV) causes massive rearrangements of intracellular membranes, resulting in a membranous web (MW) composed of predominantly double membrane vesicles (DMVs), the presumed sites of RNA replication. DMVs are enriched for cholesterol, but mechanistic details on the source and recruitment of cholesterol to the viral replication organelle are only partially known. Here we focused on selected lipid transfer proteins implicated in direct lipid transfer at various endoplasmic reticulum (ER) - membrane contact sites...
October 18, 2017: Journal of Virology
https://www.readbyqxmd.com/read/29045884/effect-of-phosphate-ion-on-the-structure-of-lumazine-synthase-an-antigen-presentation-system-from-bacillus-anthracis
#12
Yangjie Wei, Newton Wahome, Prashant Kumar, Neal Whitaker, Wendy L Picking, C Russell Middaugh
Lumazine synthase (LS) is an oligomeric enzyme involved in the biosynthesis of riboflavin in microorganisms, fungi and plants. LS has become of significant interest to biomedical science because of its critical biological role and attractive structural properties for antigen presentation in vaccines. LS derived from Bacillus anthracis (BaLS) consists of 60 identical subunits forming an icosahedron. Its crystal structure has been solved, but its dynamic conformational properties have not yet been studied. We investigated the conformation of BaLS in response to different stress conditions (e...
October 15, 2017: Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/29044952/protocol-for-computational-enzymatic-reactivity-based-on-geometry-optimisation
#13
Nuno Sousa Cerqueira, Pedro Fernandes, Maria João Ramos
Enzymes play a biologically essential role in performing and controlling an important share of the chemical processes occurring in life. However, despite their critical role in nature, attaining a clear understanding of the way an enzyme acts is still cumbersome. Computational enzymology is playing an increasingly important role in this field of research. It allows to elucidate and present the complete and detailed mechanisms of enzymatic reactions, including the characterization of reaction intermediates and transition states from both structural and energetic points of view, something that no other single experiment can produce alone...
October 16, 2017: Chemphyschem: a European Journal of Chemical Physics and Physical Chemistry
https://www.readbyqxmd.com/read/29044061/long-term-scanning-laser-ophthalmoscopy-and-perimetry-in-different-severities-of-primary-open-and-chronic-angle-closure-glaucoma-eyes
#14
Ramanjit Sihota, Aparna Rao, Geetha Srinivasan, Viney Gupta, Ajay Sharma, Tanuj Dada, M Kalaiwani
PURPOSE: To determine rate of change over time on scanning laser ophthalmoscopy, HRT, compared to perimetry, and to determine incidence, parametric changes, and risk factors for progression in primary open angle glaucoma (POAG) and chronic primary angle closure angle glaucoma (CPACG) eyes. METHODS: Prospective clinical study of 116 POAG eyes and 129 CPACG eyes of different severities of glaucoma. Standard automated perimetry and optic nerve head topography were studied at baseline and thereafter every 6 months...
October 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29043470/comprehensive-analysis-of-nmr-data-using-advanced-line-shape-fitting
#15
Markus Niklasson, Renee Otten, Alexandra Ahlner, Cecilia Andresen, Judith Schlagnitweit, Katja Petzold, Patrik Lundström
NMR spectroscopy is uniquely suited for atomic resolution studies of biomolecules such as proteins, nucleic acids and metabolites, since detailed information on structure and dynamics are encoded in positions and line shapes of peaks in NMR spectra. Unfortunately, accurate determination of these parameters is often complicated and time consuming, in part due to the need for different software at the various analysis steps and for validating the results. Here, we present an integrated, cross-platform and open-source software that is significantly more versatile than the typical line shape fitting application...
October 17, 2017: Journal of Biomolecular NMR
https://www.readbyqxmd.com/read/29040498/genome-stability-of-bovine-in-vivo-conceived-cleavage-stage-embryos-is-higher-compared-to-invitro-produced-embryos
#16
Olga Tšuiko, Maaike Catteeuw, Masoud Zamani Esteki, Aspasia Destouni, Osvaldo Bogado Pascottini, Urban Besenfelder, Vitezslav Havlicek, Katrien Smits, Ants Kurg, Andres Salumets, Thomas D'Hooghe, Thierry Voet, Ann Van Soom, Joris Robert Vermeesch
STUDY QUESTION: Is the rate and nature of chromosome instability (CIN) similar between bovine in vivo-derived and in vitro-cultured cleavage-stage embryos? SUMMARY ANSWER: There is a major difference regarding chromosome stability of in vivo-derived and in vitro-cultured embryos, as CIN is significantly lower in in vivo-derived cleavage-stage embryos compared to in vitro-cultured embryos. WHAT IS KNOWN ALREADY: CIN is common during in vitro embryogenesis and is associated with early embryonic loss in humans, but the stability of in vivo-conceived cleavage-stage embryos remains largely unknown...
September 23, 2017: Human Reproduction
https://www.readbyqxmd.com/read/29039932/annotation-a-computational-solution-for-streamlining-metabolomics-analysis
#17
Xavier Domingo-Almenara, J Rafael Montenegro-Burke, H Paul Benton, Gary Siuzdak
The aim of any untargeted metabolomics experiment is to identify and quantify dysregulated compounds relevant to a particular disease or stressor. However, metabolite identification is still considered an imposing bottleneck in untargeted metabolomics. Untargeted data analysis workflows for liquid chromatography/electrospray ionization/mass spectrometry (LC/ESI/MS) usually consist in applying peak-picking algorithms, align those peaks across multiple samples to obtain the so-called peak features (defined as a peak, or a set of aligned peaks across samples with a unique \textit{m/z} and a specific retention time), and subsequently discover statistically significant variations between experimental groups or conditions...
October 17, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/29038998/effect-of-electrode-geometry-on-the-classification-performance-of-rapid-evaporative-ionization-mass-spectrometric-reims-bacterial-identification
#18
Zsolt Bodai, Simon Cameron, Frances Bolt, Daniel Simon, Richard Schaffer, Tamas Karancsi, Julia Balog, Tony Rickards, Adam Burke, Kate Hardiman, Julia Abda, Monica Rebec, Zoltan Takats
The recently developed automated, high-throughput monopolar REIMS platform is suited for the identification of clinically important microorganisms. Although already comparable to the previously reported bipolar forceps method, optimization of the geometry of monopolar electrodes, at the heart of the system, holds the most scope for further improvements to be made. For this, sharp tip and round shaped electrodes were optimized to maximize species-level classification accuracy. Following optimization of the distance between the sample contact point and tube inlet with the sharp tip electrodes, the overall cross-validation accuracy improved from 77% to 93% in negative and from 33% to 63% in positive ion detection modes, compared with the original 4 mm distance electrode...
October 16, 2017: Journal of the American Society for Mass Spectrometry
https://www.readbyqxmd.com/read/29038435/specificity-of-surface-emg-recordings-for-gastrocnemius-during-upright-standing
#19
Taian Martins Vieira, Alberto Botter, Silvia Muceli, Dario Farina
The relatively large pick-up volume of surface electrodes has for long motivated the concern that muscles other than that of interest may contribute to surface electromyograms (EMGs). Recent findings suggest however the pick-up volume of surface electrodes may be smaller than previously appreciated, possibly leading to the detection of surface EMGs insensitive to muscle activity. Here we combined surface and intramuscular recordings to investigate how comparably action potentials from gastrocnemius and soleus are represented in surface EMGs detected with different inter-electrode distances...
October 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29035348/air-coupled-ultrasonic-receivers-with-high-electromechanical-coupling-pmn-32-pt-strip-like-piezoelectric-elements
#20
Rymantas J Kazys, Reimondas Sliteris, Justina Sestoke
For improvement of the efficiency of air-coupled ultrasonic transducers PMN-32%PT piezoelectric crystals which possess very high piezoelectric properties may be used. The electromechanical coupling factor of such crystals for all main vibration modes such as the thickness extension and transverse extension modes is more than 0.9. Operation of ultrasonic transducers with such piezoelectric elements in transmitting and receiving modes is rather different. Therefore, for transmission and reception of ultrasonic signals, separate piezoelectric elements with different dimensions must be used...
October 16, 2017: Sensors
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