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https://www.readbyqxmd.com/read/29150892/expanding-the-neurodevelopmental-phenotype-of-pura-syndrome
#1
Bo Hoon Lee, Margot R F Reijnders, Oluwatobi Abubakare, Emily Tuttle, Brynn Lape, Kelly Q Minks, Christopher Stodgell, Loisa Bennetto, Jennifer Kwon, Chin-To Fong, Karen W Gripp, Eric D Marsh, Wendy E Smith, Ahm M Huq, Stephanie A Coury, Wen-Hann Tan, Orestes Solis, Rupal I Mehta, Richard J Leventer, Diana Baralle, David Hunt, Alex R Paciorkowski
PURA syndrome is a recently described developmental encephalopathy presenting with neonatal hypotonia, feeding difficulties, global developmental delay, severe intellectual disability, and frequent apnea and epilepsy. We describe 18 new individuals with heterozygous sequence variations in PURA. A neuromotor disorder starting with neonatal hyptonia, but ultimately allowing delayed progression to walking, was present in nearly all individuals. Congenital apnea was present in 56% during infancy, but all cases in this cohort resolved during the first year of life...
November 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29150667/a-molecular-mechanism-of-symmetry-breaking-in-the-early-chick-embryo
#2
Clemente F Arias, Miguel A Herrero, Claudio D Stern, Federica Bertocchini
The first obvious sign of bilateral symmetry in mammalian and avian embryos is the appearance of the primitive streak in the future posterior region of a radially symmetric disc. The primitive streak marks the midline of the future embryo. The mechanisms responsible for positioning the primitive streak remain largely unknown. Here we combine experimental embryology and mathematical modelling to analyse the role of the TGFβ-related molecules BMP4 and Vg1/GDF1 in positioning the primitive streak. Bmp4 and Vg1 are first expressed throughout the embryo, and then become localised to the future anterior and posterior regions of the embryo, where they will, respectively, inhibit or induce formation of the primitive streak...
November 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29150001/crispr-history-discovery-characterization-and-prosperity
#3
Wenyuan Han, Qunxin She
CRISPR research is a very young research field since it was only 10years ago when the system was found to confer antiviral defense. Nevertheless, there has been an explosion of publications in CRISPR research in the past 5years. The research was started with the comparative genomics of microbial genomes early this century, which revealed the prevalence of clustered regularly interspaced short palindromic repeats (CRISPR) and CRISPR-associated (Cas) in bacteria and archaea. Series of hypotheses were made based on bioinformatics analyses and tested experimentally within a few years after the CRISPR acronym was coined...
2017: Progress in Molecular Biology and Translational Science
https://www.readbyqxmd.com/read/29149476/clinical-parameters-before-and-after-the-transition-to-dialysis
#4
Dugan W Maddux, Len A Usvyat, Terry Ketchersid, Yue Jiao, Tommy C Blanchard, Peter Kotanko, Frank M van der Sande, Jeroen P Kooman, Franklin W Maddux
INTRODUCTION: The transition from pre-dialysis chronic kidney disease (CKD) to post-dialysis start is a critical period associated with high patient mortality and increased hospital admissions. Little is known about the trends of key clinical and laboratory parameters through this time of transition to start dialysis. METHODS: De-identified data including demographics, vital signs, lab results, and eGFR from the Fresenius Medical Care-CKD Registry were analyzed to determine trends in clinical and laboratory parameters through the time of transition from 12 months pre-dialysis start to 12 months post-dialysis start...
November 17, 2017: Hemodialysis International
https://www.readbyqxmd.com/read/29149240/z-scores-based-methods-and-their-application-to-biological-monitoring-an-example-in-professional-soccer-players
#5
Guillaume Saulière, Jérôme Dedecker, Laurie-Anne Marquet, Pierre Rochcongar, Jean-Francois Toussaint, Geoffroy Berthelot
The clinical and biological follow-up of individuals, such as the biological passport for athletes, is typically based on the individual and longitudinal monitoring of hematological or urine markers. These follow-ups aim to identify abnormal behavior by comparing the individual's biological samples to an established baseline. These comparisons may be done via different ways, but each of them requires an appropriate extra population to compute the significance levels, which is a non-trivial issue. Moreover, it is not necessarily relevant to compare the measures of a biomarker of a professional athlete to that of a reference population (even restricted to other athletes), and a reasonable alternative is to detect the abnormal values by considering only the other measurements of the same athlete...
November 15, 2017: Biostatistics
https://www.readbyqxmd.com/read/29143950/-the-effect-of-a-short-term-group-stabilisation-training-in-patients-with-complex-posttraumatic-stress-disorder
#6
G Beldman, H H L M Kessels, I W de Groot
The international guideline for complex posttraumatic stress disorder (ptsd) from the International Society for Traumatic Stress Studies (istss) recommends treatment in phases, starting with stabilisation treatment. Different forms of stabilisation training have been developed the past few years, one being short-term group stabilisation training.<br/> AIM: To map out the effects of the short-term group training.<br/> METHOD: The research implemented a pre-post design. The training consisted of five group sessions...
2017: Tijdschrift Voor Psychiatrie
https://www.readbyqxmd.com/read/29142224/health-and-disease-phenotyping-in-old-age-using-a-cluster-network-analysis
#7
Jesus Felix Valenzuela, Christopher Monterola, Victor Joo Chuan Tong, Tze Pin Ng, Anis Larbi
Human ageing is a complex trait that involves the synergistic action of numerous biological processes that interact to form a complex network. Here we performed a network analysis to examine the interrelationships between physiological and psychological functions, disease, disability, quality of life, lifestyle and behavioural risk factors for ageing in a cohort of 3,270 subjects aged ≥55 years. We considered associations between numerical and categorical descriptors using effect-size measures for each variable pair and identified clusters of variables from the resulting pairwise effect-size network and minimum spanning tree...
November 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29139059/evolution-of-rubisco-activase-gene-in-plants
#8
Ragupathi Nagarajan, Kulvinder S Gill
Rubisco activase of plants evolved in a stepwise manner without losing its function to adapt to the major evolutionary events including endosymbiosis and land colonization. Rubisco activase is an essential enzyme for photosynthesis, which removes inhibitory sugar phosphates from the active sites of Rubisco, a process necessary for Rubisco activation and carbon fixation. The gene probably evolved in cyanobacteria as different species differ for its presence. However, the gene is present in all other plant species...
November 14, 2017: Plant Molecular Biology
https://www.readbyqxmd.com/read/29135450/influence-of-acquisition-frame-rate-and-video-compression-techniques-on-pulse-rate-variability-estimation-from-vppg-signal
#9
Luca Cerina, Luca Iozzia, Luca Mainardi
In this paper, common time- and frequency-domain variability indexes obtained by pulse rate variability (PRV) series extracted from video-photoplethysmographic signal (vPPG) were compared with heart rate variability (HRV) parameters calculated from synchronized ECG signals. The dual focus of this study was to analyze the effect of different video acquisition frame-rates starting from 60 frames-per-second (fps) down to 7.5 fps and different video compression techniques using both lossless and lossy codecs on PRV parameters estimation...
November 14, 2017: Biomedizinische Technik. Biomedical Engineering
https://www.readbyqxmd.com/read/29135220/strong-influence-of-ti-adhesion-layer-on-electron-phonon-relaxation-in-thin-gold-films-ab-initio-nonadiabatic-molecular-dynamics
#10
Xin Zhou, Joanna Jankowska, Linqiu Li, Ashutosh Giri, Patrick E Hopkins, Oleg V Prezhdo
Electron-phonon relaxation in thin metal films is an important consideration for many ultra-small devices and ultra-fast applications. Recent time-resolved experiments demonstrate a significant, more than a factor of five, increase in the electron-phonon coupling and an acceleration in the electron-phonon relaxation rate when a narrow Ti adhesion layer is introduced between an Au film and a non-metal substrate. Using nonadiabatic molecular dynamics combined with real-time time-dependent density functional theory, we identify the reasons that give rise to this strong effect...
November 14, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/29134669/unique-contribution-of-ecuadorian-kindergartners-spontaneous-focusing-on-numerosity-to-their-early-numerical-abilities
#11
Joke Torbeyns, Gina Bojorque, Jo Van Hoof, Daniël Van Nijlen, Lieven Verschaffel
Recent evidence indicates that young children's spontaneous focusing on numerosity (SFON) uniquely contributes to their early numerical abilities. This study complements previous findings by validating the relation between young children's SFON and their early numerical abilities in a developing country, namely Ecuador. We analysed 355 Ecuadorian 5- to 6-year-olds' SFON in relation to their early numerical abilities at the start of kindergarten, controlling for children's socio-demographic (socio-economic status, age) and general cognitive (working memory, intelligence) characteristics...
November 14, 2017: British Journal of Developmental Psychology
https://www.readbyqxmd.com/read/29127328/osmtp11-is-localised-at-the-golgi-and-contributes-to-mn-tolerance
#12
Emily C Farthing, Paloma K Menguer, Janette Palma Fett, Lorraine E Williams
Membrane transporters play a key role in obtaining sufficient quantities of manganese (Mn) but also in protecting against Mn toxicity. We have characterized OsMTP11, a member of the Cation Diffusion Facilitator/Metal Tolerance Protein (CDF/MTP) family of metal cation transporters in Oryza sativa. We demonstrate that OsMTP11 functions in alleviating Mn toxicity as its expression can rescue the Mn-sensitive phenotype of the Arabidopsis mtp11-3 knockout mutant. When expressed stably in Arabidopsis and transiently in rice and tobacco, it localises to the Golgi...
November 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29127011/rational-design-of-small-molecules-that-modulate-the-transcriptional-function-of-the-response-regulator-phop
#13
Xiaoyu Qing, Ami De Weerdt, Marc De Maeyer, Hans Steenackers, Arnout Voet
The response regulator PhoP, which is part of the PhoP/PhoQ two-component system, regulates the expression of multiple genes involved in controlling virulence in Salmonella enterica serovar Typhimurium and other species of Gram-negative bacteria. Modulating the phosphorylation-mediated dimerization in the receiver domain may interfere with the transcriptional function of PhoP. In this study, we analyzed the therapeutic potential of the PhoP receiver domain by exploring it as a potential target for drug design...
November 7, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29126328/repeated-administration-effects-on-psychomotor-vigilance-test-pvt-performance
#14
Mathias Basner, Emanuel Hermosillo, Jad Nasrini, Sarah McGuire, Salil Saxena, Tyler M Moore, Ruben C Gur, David F Dinges
Study Objectives: The Psychomotor Vigilance Test (PVT) is reported to be free of practice effects that can otherwise confound the effects of sleep loss and circadian misalignment on performance. This differentiates the PVT from more complex cognitive tests. To our knowledge, no study has systematically investigated practice effects on the PVT across multiple outcome domains, depending on administration interval, and in ecologically more valid settings. Methods: We administered a validated 3-minute PVT (PVT-B) 16 times in 45 subjects (23 male, mean±SD age 32...
November 8, 2017: Sleep
https://www.readbyqxmd.com/read/29126286/deep-learning-for-tumor-classification-in-imaging-mass-spectrometry
#15
Jens Behrmann, Christian Etmann, Tobias Boskamp, Rita Casadonte, Jörg Kriegsmann, Peter Maass
Motivation: Tumor classification using Imaging Mass Spectrometry (IMS) data has a high potential for future applications in pathology. Due to the complexity and size of the data, automated feature extraction and classification steps are required to fully process the data. Since mass spectra exhibit certain structural similarities to image data, deep learning may offer a promising strategy for classification of IMS data as it has been successfully applied to image classification. Results: Methodologically, we propose an adapted architecture based on deep convolutional networks to handle the characteristics of mass spectrometry data, as well as a strategy to interpret the learned model in the spectral domain based on a sensitivity analysis...
November 8, 2017: Bioinformatics
https://www.readbyqxmd.com/read/29125470/magnetic-behavior-of-metastable-fe-films-grown-on-ir-111
#16
Alberto Calloni, Matteo Cozzi, Madan Sangarashettyhalli Jagadeesh, Gianlorenzo Bussetti, Franco Ciccacci, Lamberto Duo
We investigated the growth of ultra-thin Fe films on Ir(111) by means of <i>in-situ</i> low energy electron diffraction and spin-resolved photoemission techniques. We observe a (1x1) diffraction pattern, characteristic of the <i>fcc</i> substrate, below 4 monolayers (ML). Then, a complex superstructure starts to develop, compatible with the formation of <i>bcc</i>-like Fe domains aligned with the substrate according to the Kourdjumov-Sachs orientation relationships. The analysis of the diffraction patterns reveals a progressive evolution towards a fully relaxed <i>bcc</i> lattice, characteristic of bulk Fe...
November 10, 2017: Journal of Physics. Condensed Matter: An Institute of Physics Journal
https://www.readbyqxmd.com/read/29123356/translational-research-in-oncology-implications-for-palliative-care
#17
Arunangshu Ghoshal
The label "translational research" (TR) has become ever more popular in the biomedical domain in recent years. It is usually presented as an attempt to bridge a supposed gap between knowledge produced at the laboratory bench and its use at the clinical bedside. This is claimed to help society harvest the benefits of its investments in scientific research. The past decade has witnessed a remarkable acceleration in the pace of translational cancer medicine - genome sequencing of various human cancers has been broadly deployed in drug discovery programs, diagnostic tests have been developed to predict molecularly targeted anticancer agents, advent of cancer immunotherapies, an enhanced appreciation of the complex interactions that exist between tumor cells and their microenvironment have revolutionized the management of cancers...
October 2017: Indian Journal of Palliative Care
https://www.readbyqxmd.com/read/29122675/high-throughput-method-for-extracting-and-visualizing-the-spatial-gene-expressions-from-in-situ-hybridization-images-a-case-study-of-the-early-development-of-the-sea-anemone-nematostella-vectensis
#18
A M Abdol, Andrew Bedard, Imke Lánský, J A Kaandorp
Studying the spatial gene expression profiles from in situ hybridization images of the embryo is one of the first steps toward the comprehensive understanding of gene interactions in an organism. In the case of N. vectensis, extracting and collecting these data is a challenging task due to the difficulty of detecting the cell layer through the transparent body plan and changing morphology during the blastula and gastrula stages. Here, first, we introduce a method to algorithmically identify and track the cell layer in N...
November 6, 2017: Gene Expression Patterns: GEP
https://www.readbyqxmd.com/read/29122012/drug-target-ontology-to-classify-and-integrate-drug-discovery-data
#19
Yu Lin, Saurabh Mehta, Hande Küçük-McGinty, John Paul Turner, Dusica Vidovic, Michele Forlin, Amar Koleti, Dac-Trung Nguyen, Lars Juhl Jensen, Rajarshi Guha, Stephen L Mathias, Oleg Ursu, Vasileios Stathias, Jianbin Duan, Nooshin Nabizadeh, Caty Chung, Christopher Mader, Ubbo Visser, Jeremy J Yang, Cristian G Bologa, Tudor I Oprea, Stephan C Schürer
BACKGROUND: One of the most successful approaches to develop new small molecule therapeutics has been to start from a validated druggable protein target. However, only a small subset of potentially druggable targets has attracted significant research and development resources. The Illuminating the Druggable Genome (IDG) project develops resources to catalyze the development of likely targetable, yet currently understudied prospective drug targets. A central component of the IDG program is a comprehensive knowledge resource of the druggable genome...
November 9, 2017: Journal of Biomedical Semantics
https://www.readbyqxmd.com/read/29120920/the-growing-clinical-spectrum-of-cerebral-amyloid-angiopathy
#20
Marieke J H Wermer, Steven M Greenberg
PURPOSE OF REVIEW: Cerebral amyloid angiopathy (CAA) is diagnosed primarily as a cause of lobar intracerebral hemorrhages (ICH) in elderly patients. With improving MRI techniques, however, the role of CAA in causing other symptoms has become clear. Recognizing the full clinical spectrum of CAA is important for diagnosis and treatment. In this review we summarize recent insights in clinical CAA features, MRI biomarkers, and management. RECENT FINDINGS: The rate of ICH recurrence in CAA is among the highest of all stroke subtypes...
November 7, 2017: Current Opinion in Neurology
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