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https://www.readbyqxmd.com/read/28098859/dna-damage-response-defect-in-williams-beuren-syndrome
#1
David Guenat, Giuseppe Merla, Eric Deconinck, Christophe Borg, Pierre-Simon Rohrlich
Williams-Beuren syndrome (WBS, no. OMIM 194050) is a rare multisystem genetic disorder caused by a microdeletion on chromosome 7q11.23 and characterized by cardiovascular malformations, mental retardation, and a specific facial dysmorphism. Recently, we reported that a series of non‑Hodgkin's lymphoma occurs in children with WBS and thus hypothesized that a predisposition to cancer may be associated with this genetic disorder. The aim of the present study was to ascertain the role played by three genes hemizygously deleted in WBS (RFC2, GTF2I and BAZ1B) in DNA damage response pathways...
January 17, 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28098766/single-electrode-deep-brain-stimulation-with-dual-targeting-at-dual-frequency-for-the-treatment-of-chronic-pain-a-case-series-and-review-of-the-literature
#2
REVIEW
Milo Hollingworth, Hugh P Sims-Williams, Anthony E Pickering, Neil Barua, Nikunj K Patel
Deep Brain Stimulation (DBS) has been used to target many deep brain structures for the treatment of chronic pain. The periaqueductal grey and periventricular grey (PAG/PVG) is an effective target but results are variable, sometimes short-lived or subject to tolerance. The centromedian intra-laminar parafascicular complex (CMPf) modulates medial pain pathways and CMPf DBS may address the affective aspects of pain perception. Stimulation of multiple deep brain targets may offer a strategy to optimize management of patients with complex pain symptomatology...
January 13, 2017: Brain Sciences
https://www.readbyqxmd.com/read/28098685/pain-pain-relief-satisfaction-and-excellence-in-obstetric-anesthesia-a-surprisingly-complex-relationship
#3
William Camann
No abstract text is available yet for this article.
February 2017: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/28098545/increase-in-urgent-care-center-visits-for-sexually-transmitted-infections-united-states-2010-2014
#4
William S Pearson, Guoyu Tao, Karen Kroeger, Thomas A Peterman
During 2010-2014, urgent care centers saw a ≈2-fold increase in the number of visits for chlamydia and gonorrhea testing and a >3-fold increase in visits by persons with diagnosed sexually transmitted infections. As urgent care becomes more popular, vigilance is required to ensure proper management of these diseases.
February 2017: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/28098538/neisseria-meningitidis-st11-complex-isolates-associated-with-nongonococcal-urethritis-indiana-usa-2015-2016
#5
Evelyn Toh, Dharanesh Gangaiah, Byron E Batteiger, James A Williams, Janet N Arno, Albert Tai, Teresa A Batteiger, David E Nelson
At a clinic in Indianapolis, Indiana, USA, we observed an increase in Neisseria gonorrhoeae-negative men with suspected gonococcal urethritis who had urethral cultures positive for N. meningitidis. We describe genomes of 2 of these N. meningitidis sequence type 11 complex urethritis isolates. Clinical evidence suggests these isolates may represent an emerging urethrotropic clade.
February 2017: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/28098522/mcgurk-effect-in-gender-identification-vision-trumps-audition-in-voice-judgments
#6
Zehra F Peynircioǧlu, William Brent, Joshua R Tatz, Jordan Wyatt
Demonstrations of non-speech McGurk effects are rare, mostly limited to emotion identification, and sometimes not considered true analogues. We presented videos of males and females singing a single syllable on the same pitch and asked participants to indicate the true range of the voice-soprano, alto, tenor, or bass. For one group of participants, the gender shown on the video matched the gender of the voice heard, and for the other group they were mismatched. Soprano or alto responses were interpreted as "female voice" decisions and tenor or bass responses as "male voice" decisions...
January 2017: Journal of General Psychology
https://www.readbyqxmd.com/read/28098509/-compassionate-use-protocol-for-auditory-brainstem-implantation-in-neurofibromatosis-type-2-early-house-ear-institute-experience
#7
Daniel S Roberts, William H Slattery, Brian S Chen, Steve R Otto, Marc S Schwartz, Gregory P Lekovic
OBJECTIVE: To report the preliminary outcomes of auditory brainstem implantation (ABI) under a compassionate use protocol for two ABI devices that are not approved by the US Food and Drug Administration. METHODS: A retrospective review was performed of neurofibromatosis type 2 (NF2) patients who underwent microsurgery for vestibular schwannoma (VS) and placement of either the Cochlear ABI541 or Med-El Synchrony ABIs. Peri-operative and device- related complications were reviewed...
January 18, 2017: Cochlear Implants International
https://www.readbyqxmd.com/read/28098440/corrosion-protection-of-copper-using-al2o3-tio2-zno-hfo2-and-zro2-atomic-layer-deposition
#8
James S Daubert, Grant T Hill, Hannah N Gotsch, Antoine P Gremaud, Jennifer S Ovental, Philip S Williams, Christopher J Oldham, Gregory N Parsons
Atomic layer deposition (ALD) is a viable means to add corrosion protection to copper metal. Ultrathin films of Al2O3, TiO2, ZnO, HfO2, and ZrO2 were deposited on copper metal using ALD, and their corrosion protection properties were measured using electrochemical impedance spectroscopy (EIS) and linear sweep voltammetry (LSV). Analysis of ∼50 nm thick films of each metal oxide demonstrated low electrochemical porosity and provided enhanced corrosion protection from aqueous NaCl solution. The surface pretreatment and roughness was found to affect the extent of the corrosion protection...
January 18, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/28098434/method-for-the-unique-identification-of-hyperelastic-material-properties-using-full-field-measures-application-to-the-passive-myocardium-material-response
#9
Luigi E Perotti, Aditya V Ponnaluri, Shankarjee Krishnamoorthi, Daniel Balzani, Daniel B Ennis, William S Klug
Quantitative measurement of the material properties (e.g., stiffness) of biological tissues is poised to become a powerful diagnostic tool. There are currently several methods in the literature to estimating material stiffness and we extend this work by formulating a framework that leads to uniquely identified material properties. We design an approach to work with full field displacement data - i.e., we assume the displacement field due to the applied forces is known both on the boundaries and also within the interior of the body of interest - and seek stiffness parameters that lead to balanced internal and external forces in a model...
January 18, 2017: International Journal for Numerical Methods in Biomedical Engineering
https://www.readbyqxmd.com/read/28098398/depression-and-discrimination-in-the-lives-of-women-transgender-and-gender-liminal-people-in-ontario-canada
#10
Charmaine C Williams, Deone Curling, Leah S Steele, Margaret F Gibson, Andrea Daley, Datejie Cheko Green, Lori E Ross
This article uses an intersectionality lens to explore how experiences of race, gender, sexuality, class and their intersections are associated with depression and unmet need for mental healthcare in a population of 704 women and transgender/gender liminal people from Ontario, Canada. A survey collecting demographic information, information about mental health and use of mental healthcare services, and data for the Everyday Discrimination Scale and the PHQ-9 Questionnaire for Depression was completed by 704 people via Internet or pen-and-paper between June 2011 and June 2012...
January 18, 2017: Health & Social Care in the Community
https://www.readbyqxmd.com/read/28098160/a-zip6-zip10-heteromer-controls-ncam1-phosphorylation-and-integration-into-focal-adhesion-complexes-during-epithelial-to-mesenchymal-transition
#11
Dylan Brethour, Mohadeseh Mehrabian, Declan Williams, Xinzhu Wang, Farinaz Ghodrati, Sepehr Ehsani, Elizabeth A Rubie, James R Woodgett, Jean Sevalle, Zhengrui Xi, Ekaterina Rogaeva, Gerold Schmitt-Ulms
The prion protein (PrP) evolved from the subbranch of ZIP metal ion transporters comprising ZIPs 5, 6 and 10, raising the prospect that the study of these ZIPs may reveal insights relevant for understanding the function of PrP. Building on data which suggested PrP and ZIP6 are critical during epithelial-to-mesenchymal transition (EMT), we investigated ZIP6 in an EMT paradigm using ZIP6 knockout cells, mass spectrometry and bioinformatic methods. Reminiscent of PrP, ZIP6 levels are five-fold upregulated during EMT and the protein forms a complex with NCAM1...
January 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28098137/origin-and-evolution-of-the-deep-thermochemical-structure-beneath-eurasia
#12
N Flament, S Williams, R D Müller, M Gurnis, D J Bower
A unique structure in the Earth's lowermost mantle, the Perm Anomaly, was recently identified beneath Eurasia. It seismologically resembles the large low-shear velocity provinces (LLSVPs) under Africa and the Pacific, but is much smaller. This challenges the current understanding of the evolution of the plate-mantle system in which plumes rise from the edges of the two LLSVPs, spatially fixed in time. New models of mantle flow over the last 230 million years reproduce the present-day structure of the lower mantle, and show a Perm-like anomaly...
January 18, 2017: Nature Communications
https://www.readbyqxmd.com/read/28097818/staging-evaluation-and-response-criteria-harmonization-search-for-childhood-adolescent-and-young-adult-hodgkin-lymphoma-cayahl-methodology-statement
#13
Jamie E Flerlage, Kara M Kelly, Auke Beishuizen, Steve Cho, Pedro A De Alarcon, Ute Dieckmann, Richard A Drachtman, Bradford S Hoppe, Scott C Howard, Sue C Kaste, Regine Kluge, Lars Kurch, Judith Landman-Parker, Jocelyn Lewis, Michael P Link, Kathleen McCarten, Angela Punnett, Dietrich Stoevesandt, Stephan D Voss, William Hamish Wallace, Christine Mauz-Körholz, Monika L Metzger
International harmonization of staging evaluation and response criteria is needed for childhood, adolescence, and young adulthood Hodgkin lymphoma. Two Hodgkin lymphoma protocols from cooperative trials in Europe and North America were compared for areas in need of harmonization, and an evidence-based approach is currently underway to harmonize staging and response evaluations with a goal to enhance comparisons, expedite identification of effective therapies, and aid in the approval process for new agents by regulatory agencies...
January 18, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28097779/the-mcgill-interactive-pediatric-oncogenetic-guidelines-an-approach-to-identifying-pediatric-oncology-patients-most-likely-to-benefit-from-a-genetic-evaluation
#14
Catherine Goudie, Hallie Coltin, Leora Witkowski, Stephanie Mourad, David Malkin, William D Foulkes
Identifying cancer predisposition syndromes in children with tumors is crucial, yet few clinical guidelines exist to identify children at high risk of having germline mutations. The McGill Interactive Pediatric OncoGenetic Guidelines project aims to create a validated pediatric guideline in the form of a smartphone/tablet application using algorithms to process clinical data and help determine whether to refer a child for genetic assessment. This paper discusses the initial stages of the project, focusing on its overall structure, the methodology underpinning the algorithms, and the upcoming algorithm validation process...
January 18, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28097771/solution-synthesis-structure-and-co2-reduction-reactivity-of-a-scandium-ii-complex-sc-n-sime3-2-3
#15
David H Woen, Guo P Chen, Joseph W Ziller, Timothy J Boyle, Filipp Furche, William J Evans
The first crystallographically characterizable complex of Sc(2+) , [Sc(NR2 )3 ](-) (R=SiMe3 ), has been obtained by LnA3 /M reactions (Ln=rare earth metal; A=anionic ligand; M=alkali metal) involving reduction of Sc(NR2 )3 with K in the presence of 2.2.2-cryptand (crypt) and 18-crown-6 (18-c-6) and with Cs in the presence of crypt. Dark maroon [K(crypt)](+) , [K(18-c-6)](+) , and [Cs(crypt)](+) salts of the [Sc(NR2 )3 ](-) anion are formed, respectively. The formation of this oxidation state of Sc is also indicated by the eight-line EPR spectra arising from the I=7/2 (45) Sc nucleus...
January 18, 2017: Angewandte Chemie
https://www.readbyqxmd.com/read/28097694/serial-cytokine-alterations-and-abnormal-neuroimaging-in-newborn-infants-with-encephalopathy
#16
Fiona M O'Hare, R William G Watson, Amanda O'Neill, Ricardo Segurado, Deirdre Sweetman, Paul Downey, Eoghan Mooney, John Murphy, Veronica Donoghue, Eleanor J Molloy
AIM: Inflammatory cytokines may play a role in the final common pathway in the pathogenesis of hypoxic-ischaemic injury in experimental models. We aimed to profile the systemic pro- and anti-inflammatory response over the first week of life in term infants at risk of neonatal encephalopathy. METHOD: In a tertiary referral university neonatal intensive care unit, serial blood samples were analysed from 41 term infants (requiring resuscitation at birth) in this prospective observational pilot study...
January 17, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28097645/bacterial-subversion-of-camp-signalling-inhibits-cathelicidin-expression-which-is-required-for-innate-resistance-to-mycobacterium-tuberculosis
#17
Shashank Gupta, Kathryn Winglee, Richard Gallo, William R Bishai
Antimicrobial peptides such as cathelicidins are an important component of innate immune defence against inhaled microorganisms and have demonstrated antimicrobial activity against Mycobacterium tuberculosis with in vitro models. Despite this, little is known about the regulation and expression of cathelicidin during tuberculosis in vivo. We sought to determine whether the cathelicidin-related antimicrobial peptide (Cramp) gene, the murine functional homologue of the human cathelicidin gene (CAMP or LL-37), is required for regulating protective immunity during M...
January 18, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28097634/schizophrenia-impact-on-family-dynamics
#18
REVIEW
Alejandra Caqueo-Urízar, Mar Rus-Calafell, Thomas K J Craig, Matias Irarrazaval, Alfonso Urzúa, Laurent Boyer, David R Williams
In many societies, family members are now the primary caregivers of mental health patients, taking on responsibilities traditionally under the purview of hospitals and medical professionals. The impact of this shift on the family is high, having both an emotional and economic toll. The aim of this paper is to review the main changes that occur in family dynamics for patients with schizophrenia. The article addresses three central themes: (i) changes in the family at the onset of the disorder, (ii) consequences for family members because of their caregiver role, and (iii) family interventions aimed at improving the complex dynamics within the family...
January 2017: Current Psychiatry Reports
https://www.readbyqxmd.com/read/28097515/distress-is-interdependent-in-patients-and-caregivers-with-newly-diagnosed-incurable-cancers
#19
Jamie M Jacobs, Kelly M Shaffer, Ryan D Nipp, Joel N Fishbein, James MacDonald, Areej El-Jawahri, William F Pirl, Vicki A Jackson, Elyse R Park, Jennifer S Temel, Joseph A Greer
BACKGROUND: Individuals with advanced, incurable cancer often experience high physical and psychological symptom burden. Family and friend caregivers are at risk for emotional distress. PURPOSE: The aim of the study is to investigate the interrelationship of distress in patient-caregiver dyads at the time of newly diagnosed incurable cancer. METHODS: From May 2011 to July 2015, within 8 weeks of diagnosis of advanced lung or noncolorectal gastrointestinal cancer, 350 patients and 275 family caregivers were enrolled in a randomized controlled trial of early palliative care...
January 17, 2017: Annals of Behavioral Medicine: a Publication of the Society of Behavioral Medicine
https://www.readbyqxmd.com/read/28097505/support-for-context-effects-on-segmentation-and-segments-depends-on-the-context
#20
Christopher C Heffner, Rochelle S Newman, William J Idsardi
Listeners must adapt to differences in speech rate across talkers and situations. Speech rate adaptation effects are strong for adjacent syllables (i.e., proximal syllables). For studies that have assessed adaptation effects on speech rate information more than one syllable removed from a point of ambiguity in speech (i.e., distal syllables), the difference in strength between different types of ambiguity is stark. Studies of word segmentation have shown large shifts in perception as a result of distal rate manipulations, while studies of segmental perception have shown only weak, or even nonexistent, effects...
January 17, 2017: Attention, Perception & Psychophysics
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