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https://www.readbyqxmd.com/read/28092684/biallelic-mutations-in-the-3-exonuclease-toe1-cause-pontocerebellar-hypoplasia-and-uncover-a-role-in-snrna-processing
#1
Rea M Lardelli, Ashleigh E Schaffer, Veerle R C Eggens, Maha S Zaki, Stephanie Grainger, Shashank Sathe, Eric L Van Nostrand, Zinayida Schlachetzki, Basak Rosti, Naiara Akizu, Eric Scott, Jennifer L Silhavy, Laura Dean Heckman, Rasim Ozgur Rosti, Esra Dikoglu, Anne Gregor, Alicia Guemez-Gamboa, Damir Musaev, Rohit Mande, Ari Widjaja, Tim L Shaw, Sebastian Markmiller, Isaac Marin-Valencia, Justin H Davies, Linda de Meirleir, Hulya Kayserili, Umut Altunoglu, Mary Louise Freckmann, Linda Warwick, David Chitayat, Susan Blaser, Ahmet Okay Çağlayan, Kaya Bilguvar, Huseyin Per, Christina Fagerberg, Henrik T Christesen, Maria Kibaek, Kimberly A Aldinger, David Manchester, Naomichi Matsumoto, Kazuhiro Muramatsu, Hirotomo Saitsu, Masaaki Shiina, Kazuhiro Ogata, Nicola Foulds, William B Dobyns, Neil C Chi, David Traver, Luigina Spaccini, Stefania Maria Bova, Stacey B Gabriel, Murat Gunel, Enza Maria Valente, Marie-Cecile Nassogne, Eric J Bennett, Gene W Yeo, Frank Baas, Jens Lykke-Andersen, Joseph G Gleeson
Deadenylases are best known for degrading the poly(A) tail during mRNA decay. The deadenylase family has expanded throughout evolution and, in mammals, consists of 12 Mg(2+)-dependent 3'-end RNases with substrate specificity that is mostly unknown. Pontocerebellar hypoplasia type 7 (PCH7) is a unique recessive syndrome characterized by neurodegeneration and ambiguous genitalia. We studied 12 human families with PCH7, uncovering biallelic, loss-of-function mutations in TOE1, which encodes an unconventional deadenylase...
January 16, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28086870/a-pilot-study-of-a-community-health-agent-led-type-2-diabetes-self-management-program-using-motivational-interviewing-based-approaches-in-a-public-primary-care-center-in-s%C3%A3-o-paulo-brazil
#2
Thais Moura Ribeiro do Valle Nascimento, Ken Resnicow, Marcia Nery, Alexandra Brentani, Elizabeth Kaselitz, Pooja Agrawal, Simanjit Mand, Michele Heisler
BACKGROUND: Rates of noncommunicable diseases (NCDs) such as type 2 diabetes are escalating in low and middle-income countries such as Brazil. Scalable primary care-based interventions are needed to improve self-management and clinical outcomes of adults with diabetes. This pilot study examines the feasibility, acceptability, and outcomes of training community health agents (CHAs) in Motivational Interviewing (MI)-based counseling for patients with poorly controlled diabetes in a primary care center in São Paulo, Brazil...
January 13, 2017: BMC Health Services Research
https://www.readbyqxmd.com/read/28040907/new-products
#3
Andreas Mandelis
No abstract text is available yet for this article.
December 2016: Review of Scientific Instruments
https://www.readbyqxmd.com/read/27994578/comparative-in-silico-analysis-of-butyrate-production-pathways-in-gut-commensals-and-pathogens
#4
Swadha Anand, Harrisham Kaur, Sharmila S Mande
Biosynthesis of butyrate by commensal bacteria plays a crucial role in maintenance of human gut health while dysbiosis in gut microbiome has been linked to several enteric disorders. Contrastingly, butyrate shows cytotoxic effects in patients with oral diseases like periodontal infections and oral cancer. In addition to these host associations, few syntrophic bacteria couple butyrate degradation with sulfate reduction and methane production. Thus, it becomes imperative to understand the distribution of butyrate metabolism pathways and delineate differences in substrate utilization between pathogens and commensals...
2016: Frontiers in Microbiology
https://www.readbyqxmd.com/read/27922889/pump-speed-optimization-in-stable-patients-with-a-left-ventricular-assist-device
#5
Lotte E Couperus, Victoria Delgado, Mand J H Khidir, Marijke P M Vester, Meindert Palmen, Marta Fiocco, Eduard R Holman, Laurens F Tops, Robert J M Klautz, Harriëtte F Verwey, Martin J Schalij, Saskia L M A Beeres
Optimal left ventricular assist device (LVAD) functioning and preservation of right ventricular (RV) function are major survival determinants in destination therapy (DT)-LVAD recipients. Currently, the indication for routine pump speed optimization in stable patients and its effect on RV function at follow-up remain underexplored. Hemodynamically stable patients (N=17, age 61 [interquartile range {IQR} 51-66]years; 13 [77%] male) underwent a routine speed ramp test. Echocardiographic images were obtained at incremental speed settings to determine optimal pump speed...
December 2, 2016: ASAIO Journal: a Peer-reviewed Journal of the American Society for Artificial Internal Organs
https://www.readbyqxmd.com/read/27913101/a-growth-opportunity-thoracic-splenosis
#6
Abby Matthews, Michael Chesser, Jasminder Mand, Allen Thomas
No abstract text is available yet for this article.
November 29, 2016: American Journal of Medicine
https://www.readbyqxmd.com/read/27910436/new-products
#7
Andreas Mandelis
No abstract text is available yet for this article.
November 2016: Review of Scientific Instruments
https://www.readbyqxmd.com/read/27850954/1318-biphasic-change-in-serum-potassium-using-potassium-free-replacement-fluid-during-cvvh
#8
William Peppard, Cole Lightfoot, Corinne Bertolaccini, Barrett Mand, Thomas Carver
No abstract text is available yet for this article.
December 2016: Critical Care Medicine
https://www.readbyqxmd.com/read/27836600/a-novel-method-for-sensitive-microrna-detection-electropolymerization-based-doping
#9
Merve Kaplan, Tugba Kilic, Gunnur Guler, Jihane Mandli, Aziz Amine, Mehmet Ozsoz
In the proposed study, for the first time, sensitive electrochemical detection of a breast cancer biomarker microRNA (miRNA), mir-21 was achieved via electropolymerized polypyrrole (PPy) modified pencil graphite electrodes (PPy/PGE). The detection of hybridization of electrochemically doped probe miRNA, antimir-21, with its complementary target, mir-21 was monitored by either electrochemical impedance spectroscopy (EIS) via comparison of charge transfer resistance (Rct) values before and after hybridization or by electrochemical reduction signal of an hybridization indicator, Meldola's blue (MDB)...
September 14, 2016: Biosensors & Bioelectronics
https://www.readbyqxmd.com/read/27821311/breastfeeding-and-motor-development-a-longitudinal-cohort-study
#10
Tegan Grace, Wendy Oddy, Max Bulsara, Beth Hands
BACKGROUND: While there is a large body of work supporting the importance of early feeding practices on cognitive, immunity, behavioural and mental outcomes, few longitudinal studies have focused on motor development. The relationship between duration of breast feeding and motor development outcomes at 10, 14, and 17years were examined. METHODS: Data were obtained from the Western Australian Pregnancy (Raine) Study. There were 2868 live births recorded and children were examined for motor proficiency at 10 (M=10...
November 4, 2016: Human Movement Science
https://www.readbyqxmd.com/read/27812798/choosing-between-responsive-design-websites-versus-mobile-apps-for-your-mobile-behavioral-intervention-presenting-four-case-studies
#11
Gabrielle M Turner-McGrievy, Sarah B Hales, Danielle E Schoffman, Homay Valafar, Keith Brazendale, R Glenn Weaver, Michael W Beets, Michael D Wirth, Nitin Shivappa, Trisha Mandes, James R Hébert, Sara Wilcox, Andrew Hester, Matthew J McGrievy
Both mobile apps and responsive-design websites (web apps) can be used to deliver mobile health (mHealth) interventions, but it can be difficult to discern which to use in research. The goal of this paper is to present four case studies from behavioral interventions that developed either a mobile app or a web app for research and present an information table to help researchers determine which mobile option would work best for them. Four behavioral intervention case studies (two developed a mobile app, and two developed a web app) presented include time, cost, and expertise...
November 3, 2016: Translational Behavioral Medicine
https://www.readbyqxmd.com/read/27812103/association-of-an-in-house-blood-bank-with-therapy-and-outcome-in-severely-injured-patients-an-analysis-of-18-573-patients-from-the-traumaregister-dgu%C3%A2
#12
Florian Debus, Rolf Lefering, Philipp Lechler, Tim Schwarting, Benjamin Bockmann, Erwin Strasser, Carsten Mand, Steffen Ruchholtz, Michael Frink
INTRODUCTION: Hemorrhagic shock remains one of the most common causes of death in severely injured patients. It is unknown to what extent the presence of a blood bank in a trauma center influences therapy and outcome in such patients. MATERIAL AND METHODS: We retrospectively analyzed prospectively recorded data from the TraumaRegister DGU® and the TraumaNetzwerk DGU®. Inclusion criteria were Injury Severity Score (ISS) ≥ 16, primarily treated patients, and hospital admission 2 years before or after the audit process...
2016: PloS One
https://www.readbyqxmd.com/read/27808028/-trakealstenose-som-atypisk-%C3%A3-rsag-til-inspiratorisk-og-eksspiratorisk-stridor-hos-en-32-%C3%A3-rig-mand
#13
Anders Mølgaard Rasmussen
No abstract text is available yet for this article.
October 24, 2016: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/27802684/new-products
#14
Andreas Mandelis
No abstract text is available yet for this article.
October 2016: Review of Scientific Instruments
https://www.readbyqxmd.com/read/27797774/web-igloo-a-web-based-platform-for-multivariate-data-visualization
#15
Bhusan K Kuntal, Sharmila S Mande
MOTIVATION: The majority of data generated routinely from various experiments are essentially multivariate, often categorized with multiple experimental metadata. Analyzing such results with interactive visualizations often yields interesting and intuitive results which otherwise remains undisclosed. RESULTS: In this paper, we present Web-Igloo-a GUI based interactive 'feature decomposition independent' multivariate data visualization platform. Web-Igloo is likely to be a valuable contribution in the field of visual data mining, especially for researchers working with but not limited to multi-omics data...
October 22, 2016: Bioinformatics
https://www.readbyqxmd.com/read/27782558/new-products
#16
Andreas Mandelis
No abstract text is available yet for this article.
September 2016: Review of Scientific Instruments
https://www.readbyqxmd.com/read/27758051/quantitative-phase-filtered-wavelength-modulated-differential-photoacoustic-radar-tumor-hypoxia-imaging-toward-early-cancer-detection
#17
Edem Dovlo, Bahman Lashkari, Sung Soo Sean Choi, Andreas Mandelis, Wei Shi, Fei-Fei Liu
Overcoming the limitations of conventional linear spectroscopy used in multispectral photoacoustic imaging, wherein a linear relationship is assumed between the absorbed optical energy and the absorption spectra of the chromophore at a specific location, is crucial for obtaining accurate spatially-resolved quantitative functional information by exploiting known chromophore-specific spectral characteristics. This study introduces a non-invasive phase-filtered differential photoacoustic technique, wavelength-modulated differential photoacoustic radar (WM-DPAR) imaging that addresses this issue by eliminating the effect of the unknown wavelength-dependent fluence...
October 19, 2016: Journal of Biophotonics
https://www.readbyqxmd.com/read/27751561/assessing-motor-proficiency-in-young-adults-the-bruininks-oseretsky-test-2-short-form-and-the-mccarron-assessment-of-neuromuscular-development
#18
F McIntyre, H Parker, A Thornton, M Licari, J Piek, D Rigoli, B Hands
Currently, only two motor tests have norms extending into young adulthood - the McCarron Assessment of Neuromuscular Development (MAND, McCarron 1997) and the Bruininks Oseretsky Test of Motor Proficiency-2 (BOT-2, Bruininks & Bruininks, 2005). Research into the motor difficulties in early adulthood and health outcomes has been impeded because there is no agreed gold standard motor test for this group. The purposes of this study were to compare the discrimination accuracy, classification agreement, and predictive values, and gender distribution and prevalence of each test in identifying motor impairment (MI) in relation to DSM-V diagnostic criteria for DCD...
October 14, 2016: Human Movement Science
https://www.readbyqxmd.com/read/27723165/children-with-autism-spectrum-disorder-teaching-conversation-involving-feelings-about-events
#19
K Conallen, P Reed
BACKGROUND: Two procedures were developed to teach individuals with Autism Spectrum Disorders labels (tacts) for various private events (emotions): Study 1 attempted to distinguish them from pure tacts and mands (requests); and Study 2 attempted to train initiating a conversation with grammatically correct subject-verb-comment construction. METHODS: A multiple treatment reversal design was used in both studies, followed by a probe to see if the tacts were used across novel settings...
October 10, 2016: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/27695034/xenobiotic-metabolism-and-gut-microbiomes
#20
Anubhav Das, Meenakshi Srinivasan, Tarini Shankar Ghosh, Sharmila S Mande
Humans are exposed to numerous xenobiotics, a majority of which are in the form of pharmaceuticals. Apart from human enzymes, recent studies have indicated the role of the gut bacterial community (microbiome) in metabolizing xenobiotics. However, little is known about the contribution of the plethora of gut microbiome in xenobiotic metabolism. The present study reports the results of analyses on xenobiotic metabolizing enzymes in various human gut microbiomes. A total of 397 available gut metagenomes from individuals of varying age groups from 8 nationalities were analyzed...
2016: PloS One
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