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https://www.readbyqxmd.com/read/28635952/yunis-var%C3%A3-n-syndrome-caused-by-biallelic-vac14-mutations
#1
Matthew A Lines, Yoko Ito, Kristin D Kernohan, Wendy Mears, Julie Hurteau-Miller, Sunita Venkateswaran, Leanne Ward, Karine Khatchadourian, Jeff McClintock, Priya Bhola, Philippe M Campeau, Kym M Boycott, Jean Michaud, André Bp van Kuilenburg, Sacha Ferdinandusse, David A Dyment
Yunis-Varón syndrome (YVS) is an autosomal recessive disorder comprising skeletal anomalies, dysmorphism, global developmental delay and intracytoplasmic vacuolation in brain and other tissues. All hitherto-reported pathogenic variants affect FIG4, a lipid phosphatase involved in phosphatidylinositol (3,5)-bisphosphate [PtdIns(3,5)P2] metabolism. FIG4 interacts with PIKfyve, a lipid kinase, via the adapter protein VAC14; all subunits of the resulting complex are essential for PtdIns(3,5)P2 synthesis in the endolysosomal membrane compartment...
June 21, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28629905/2017-american-college-of-rheumatology-american-association-of-hip-and-knee-surgeons-guideline-for-the-perioperative-management-of-antirheumatic-medication-in-patients-with-rheumatic-diseases-undergoing-elective-total-hip-or-total-knee-arthroplasty
#2
Susan M Goodman, Bryan Springer, Gordon Guyatt, Matthew P Abdel, Vinod Dasa, Michael George, Ora Gewurz-Singer, Jon T Giles, Beverly Johnson, Steve Lee, Lisa A Mandl, Michael A Mont, Peter Sculco, Scott Sporer, Louis Stryker, Marat Turgunbaev, Barry Brause, Antonia F Chen, Jeremy Gililland, Mark Goodman, Arlene Hurley-Rosenblatt, Kyriakos Kirou, Elena Losina, Ronald MacKenzie, Kaleb Michaud, Ted Mikuls, Linda Russell, Alexander Sah, Amy S Miller, Jasvinder A Singh, Adolph Yates
OBJECTIVE: This collaboration between the American College of Rheumatology and the American Association of Hip and Knee Surgeons developed an evidence-based guideline for the perioperative management of antirheumatic drug therapy for adults with rheumatoid arthritis (RA), spondyloarthritis (SpA) including ankylosing spondylitis and psoriatic arthritis, juvenile idiopathic arthritis (JIA), or systemic lupus erythematosus (SLE) undergoing elective total hip (THA) or total knee arthroplasty (TKA)...
June 8, 2017: Journal of Arthroplasty
https://www.readbyqxmd.com/read/28620948/2017-american-college-of-rheumatology-american-association-of-hip-and-knee-surgeons-guideline-for-the-perioperative-management-of-antirheumatic-medication-in-patients-with-rheumatic-diseases-undergoing-elective-total-hip-or-total-knee-arthroplasty
#3
Susan M Goodman, Bryan Springer, Gordon Guyatt, Matthew P Abdel, Vinod Dasa, Michael George, Ora Gewurz-Singer, Jon T Giles, Beverly Johnson, Steve Lee, Lisa A Mandl, Michael A Mont, Peter Sculco, Scott Sporer, Louis Stryker, Marat Turgunbaev, Barry Brause, Antonia F Chen, Jeremy Gililland, Mark Goodman, Arlene Hurley-Rosenblatt, Kyriakos Kirou, Elena Losina, Ronald MacKenzie, Kaleb Michaud, Ted Mikuls, Linda Russell, Alexander Sah, Amy S Miller, Jasvinder A Singh, Adolph Yates
OBJECTIVE: This collaboration between the American College of Rheumatology and the American Association of Hip and Knee Surgeons developed an evidence-based guideline for the perioperative management of antirheumatic drug therapy for adults with rheumatoid arthritis (RA), spondyloarthritis (SpA) including ankylosing spondylitis and psoriatic arthritis, juvenile idiopathic arthritis (JIA), or systemic lupus erythematosus (SLE) undergoing elective total hip (THA) or total knee arthroplasty (TKA)...
June 16, 2017: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/28620917/2017-american-college-of-rheumatology-american-association-of-hip-and-knee-surgeons-guideline-for-the-perioperative-management-of-antirheumatic-medication-in-patients-with-rheumatic-diseases-undergoing-elective-total-hip-or-total-knee-arthroplasty
#4
Susan M Goodman, Bryan Springer, Gordon Guyatt, Matthew P Abdel, Vinod Dasa, Michael George, Ora Gewurz-Singer, Jon T Giles, Beverly Johnson, Steve Lee, Lisa A Mandl, Michael A Mont, Peter Sculco, Scott Sporer, Louis Stryker, Marat Turgunbaev, Barry Brause, Antonia F Chen, Jeremy Gililland, Mark Goodman, Arlene Hurley-Rosenblatt, Kyriakos Kirou, Elena Losina, Ronald MacKenzie, Kaleb Michaud, Ted Mikuls, Linda Russell, Alexander Sah, Amy S Miller, Jasvinder A Singh, Adolph Yates
OBJECTIVE: This collaboration between the American College of Rheumatology and the American Association of Hip and Knee Surgeons developed an evidence-based guideline for the perioperative management of antirheumatic drug therapy for adults with rheumatoid arthritis (RA), spondyloarthritis (SpA) including ankylosing spondylitis and psoriatic arthritis, juvenile idiopathic arthritis (JIA), or systemic lupus erythematosus (SLE) undergoing elective total hip (THA) or total knee arthroplasty (TKA)...
June 16, 2017: Arthritis Care & Research
https://www.readbyqxmd.com/read/28617811/genetic-structural-and-chemical-insights-into-the-dual-function-of-grasp55-in-germ-cell-golgi-remodeling-and-jam-c-polarized-localization-during-spermatogenesis
#5
Amandine Cartier-Michaud, Anne-Laure Bailly, Stéphane Betzi, Xiaoli Shi, Jean-Claude Lissitzky, Ana Zarubica, Arnauld Sergé, Philippe Roche, Adrien Lugari, Véronique Hamon, Florence Bardin, Carine Derviaux, Frédérique Lembo, Stéphane Audebert, Sylvie Marchetto, Bénédicte Durand, Jean-Paul Borg, Ning Shi, Xavier Morelli, Michel Aurrand-Lions
Spermatogenesis is a dynamic process that is regulated by adhesive interactions between germ and Sertoli cells. Germ cells express the Junctional Adhesion Molecule-C (JAM-C, encoded by Jam3), which localizes to germ/Sertoli cell contacts. JAM-C is involved in germ cell polarity and acrosome formation. Using a proteomic approach, we demonstrated that JAM-C interacted with the Golgi reassembly stacking protein of 55 kDa (GRASP55, encoded by Gorasp2) in developing germ cells. Generation and study of Gorasp2-/- mice revealed that knock-out mice suffered from spermatogenesis defects...
June 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28575542/rheumatoid-arthritis-patients-motivations-for-accepting-or-resisting-disease-modifying-antirheumatic-drug-treatment-regimens
#6
Yomei Shaw, Ilinca D Metes, Kaleb Michaud, Julie M Donohue, Mark S Roberts, Marc C Levesque, Judy C Chang
OBJECTIVE: Patient refusal of and nonadherence to treatment with disease-modifying antirheumatic drugs (DMARDs) can adversely affect disease outcomes in rheumatoid arthritis (RA). This qualitative study describes how RA patients' feelings in response to experiences and information affected their decisions to accept (agree to adopt, initiate and implement) or resist (refuse, avoid and discontinue) DMARD treatment regimens. METHODS: 48 RA patients were interviewed about their experiences making decisions about DMARDs...
June 2, 2017: Arthritis Care & Research
https://www.readbyqxmd.com/read/28562129/fetal-response-to-intramuscular-epinephrine-for-anaphylaxis-during-maternal-penicillin-desensitization-for-secondary-syphilis
#7
Shan Shan Wu, Tina Abraham, Chelsea Michaud, Brian Peppers, Andrea Ward, Stacey Ehrenberg Buchner, Catalina V Teba, Haig Tcheurekdjian, Robert Hostoffer, Devi Jhaveri
Penicillin desensitization is indicated in pregnant patients with severe allergies to penicillin with syphilis. The immediate effects of intramuscular epinephrine on the fetus during desensitization remain unreported. We describe a pregnant patient with secondary syphilis and penicillin allergy who developed anaphylaxis during penicillin desensitization. Anaphylaxis resolved after administration of intramuscular epinephrine. Throughout the procedure, continuous electronic fetal monitoring showed a stable fetus without a decrease in variability, tachycardia, decelerations or signs of fetal distress...
May 31, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28555088/optimal-financial-knowledge-and-wealth-inequality
#8
Annamaria Lusardi, Pierre-Carl Michaud, Olivia S Mitchell
We show that financial knowledge is a key determinant of wealth inequality in a stochastic lifecycle model with endogenous financial knowledge accumulation, where financial knowledge enables individuals to better allocate lifetime resources in a world of uncertainty and imperfect insurance. Moreover, because of how the U.S. social insurance system works, better-educated individuals have most to gain from investing in financial knowledge. Our parsimonious specification generates substantial wealth inequality relative to a one-asset saving model and one where returns on wealth depend on portfolio composition alone...
April 2017: Journal of Political Economy
https://www.readbyqxmd.com/read/28548197/-differentiated-review-of-biomedical-research-projects-by-ethics-committees
#9
María Bernardita Portales, Patricio Michaud, Sofía P Salas, Juan Pablo Beca
Ten years after the approval of the Chilean bill that regulates scientific research in humans (Law Nº 20.120), and considering the current status of accreditation and training of many Research Ethics Committee (REC), it is necessary to analyze their performance. We analyzed the Chilean experience with REC aiming to propose a differential type of review, considering the risks to research participants. To improve the quality of the review and the efficiency of these committees, we propose to differentiate the revisions depending on the type of project, its methods and its risks...
March 2017: Revista Médica de Chile
https://www.readbyqxmd.com/read/28545489/cytotoxic-necrotizing-factor-1-cnf1-does-not-promote-e-coli-infection-in-a-murine-model-of-ascending-pyelonephritis
#10
Jason E Michaud, Kwang Sik Kim, William Harty, Matthew Kasprenski, Ming-Hsien Wang
BACKGROUND: Urinary tract infections (UTI) are among the most common and costly infections in both hospitalized and ambulatory patients. Uropathogenic E. coli (UPEC) represent the majority of UTI isolates and are a diverse group of bacteria that utilize a variety of virulence factors to establish infection of the genitourinary tract. The virulence factor cytotoxic necrotizing factor-1 (CNF1) is frequently expressed in clinical UPEC isolates. To date, there have been conflicting reports on the role of CNF1 in the pathogenesis of E...
May 25, 2017: BMC Microbiology
https://www.readbyqxmd.com/read/28545063/financial-distress-in-patients-with-advanced-cancer
#11
Cécile Barbaret, Christelle Brosse, Wadih Rhondali, Murielle Ruer, Léa Monsarrat, Patrick Michaud, Anne Marie Schott, Marvin Delgado-Guay, Eduardo Bruera, Stéphane Sanchez, Marilène Filbet
PURPOSE: We examined the frequency and severity of financial distress (FD) and its association with quality of life (QOL) and symptoms among patients with advanced cancer in France. DESIGN: In this cross-sectional study, 143 patients with advanced cancer were enrolled. QOL was assessed using the Functional Assessment of Cancer General (FACT-G) and symptoms assessed using Edmonton Assessment System (ESAS) and Hospital Anxiety and Depression Scale (HADS). FD was assessed using a self-rated numeric scale from 0 to 10...
2017: PloS One
https://www.readbyqxmd.com/read/28542143/dna-damage-and-s-phase-dependent-e2f1-stabilization-requires-the-ciap1-e3-ubiquitin-ligase-and-is-associated-with-k63-poly-ubiquitination-on-lysine-161-164-residues
#12
Valérie Glorian, Jennifer Allègre, Jean Berthelet, Baptiste Dumetier, Pierre-Marie Boutanquoi, Nathalie Droin, Cémile Kayaci, Jessy Cartier, Simon Gemble, Guillaume Marcion, Daniel Gonzalez, Romain Boidot, Carmen Garrido, Olivier Michaud, Eric Solary, Laurence Dubrez
The E2F transcription factor 1 is subtly regulated along the cell cycle progression and in response to DNA damage by post-translational modifications. Here, we demonstrated that the E3-ubiquitin ligase cellular inhibitor of apoptosis 1 (cIAP1) increases E2F1 K63-poly-ubiquitination on the lysine residue 161/164 cluster, which is associated with the transcriptional factor stability and activity. Mutation of these lysine residues completely abrogates the binding of E2F1 to CCNE, TP73 and APAF1 promoters, thus inhibiting transcriptional activation of these genes and E2F1-mediated cell proliferation control...
May 25, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28541417/family-history-of-atrial-fibrillation-as-a-predictor-of-atrial-substrate-and-arrhythmia-recurrence-in-patients-undergoing-atrial-fibrillation-catheter-ablation
#13
Sunil Kapur, Saurabh Kumar, Roy M John, William G Stevenson, Usha B Tedrow, Bruce A Koplan, Laurence M Epstein, Calum A MacRae, Gregory F Michaud
Aims: A commonly held notion is that patients with a family history of atrial fibrillation (AF) have worse atrial substrate and higher rates of arrhythmia recurrence following ablation. We sought to examine differences in atrial substrate and catheter ablation outcomes in patients with a 1st degree family member with paroxysmal or persistent AF (PeAF) compared to those without. Methods and results: A total of 256 consecutive patients undergoing their 1st ablation for AF (123 paroxysmal, 133 persistent) with >1 year follow up were included...
May 24, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28516774/multiplexed-mrm-based-protein-quantitation-using-two-different-stable-isotope-labeled-peptides-for-calibration
#14
André LeBlanc, Sarah A Michaud, Andrew J Percy, Darryl B Hardie, Juncong Yang, Nicholas J Sinclair, Jillaine I Proudfoot, Adam Pistawka, Derek S Smith, Christoph H Borchers
Precise and robust quantitation of the endogenous plasma proteome is a requirement for fundamental and biomedical research as well as for clinical applications. Targeted detection of peptides in a bottom-up strategy is the most common and precise mass spectrometry-based quantitation approach when combined with the use of stable isotope labeled peptides. However, when measuring protein in plasma, the unknown endogenous levels prevent the implementation of best calibration strategies since no blank matrix is available...
May 18, 2017: Journal of Proteome Research
https://www.readbyqxmd.com/read/28508558/individual-survival-curves-comparing-subjective-and-observed-mortality-risks
#15
Luc Bissonnette, Michael D Hurd, Pierre-Carl Michaud
We compare individual survival curves constructed from objective (actual mortality) and elicited subjective information (probability of survival to a given target age). We develop a methodology to estimate jointly subjective and objective individual survival curves accounting for rounding on subjective reports of perceived survival. We make use of the long follow-up period in the Health and Retirement Study and the high quality of mortality data to estimate individual survival curves that feature both observed and unobserved heterogeneity...
May 15, 2017: Health Economics
https://www.readbyqxmd.com/read/28506916/temporary-removal-2017-hrs-ehra-ecas-aphrs-solaece-expert-consensus-statement-on-catheter-and-surgical-ablation-of-atrial-fibrillation
#16
Hugh Calkins, Gerhard Hindricks, Riccardo Cappato, Young-Hoon Kim, Eduardo B Saad, Luis Aguinaga, Joseph G Akar, Vinay Badhwar, Josep Brugada, John Camm, Peng-Sheng Chen, Shih-Ann Chen, Mina K Chung, Jens Cosedis Nielsen, Anne B Curtis, D Wyn Davies, John D Day, André d'Avila, N M S Natasja de Groot, Luigi Di Biase, Mattias Duytschaever, James R Edgerton, Kenneth A Ellenbogen, Patrick T Ellinor, Sabine Ernst, Guilherme Fenelon, Edward P Gerstenfeld, David E Haines, Michel Haissaguerre, Robert H Helm, Elaine Hylek, Warren M Jackman, Jose Jalife, Jonathan M Kalman, Josef Kautzner, Hans Kottkamp, Karl Heinz Kuck, Koichiro Kumagai, Richard Lee, Thorsten Lewalter, Bruce D Lindsay, Laurent Macle, Moussa Mansour, Francis E Marchlinski, Gregory F Michaud, Hiroshi Nakagawa, Andrea Natale, Stanley Nattel, Ken Okumura, Douglas Packer, Evgeny Pokushalov, Matthew R Reynolds, Prashanthan Sanders, Mauricio Scanavacca, Richard Schilling, Claudio Tondo, Hsuan-Ming Tsao, Atul Verma, David J Wilber, Teiichi Yamane
The publisher regrets that this article has been temporarily removed. A replacement will appear as soon as possible in which the reason for the removal of the article will be specified, or the article will be reinstated. The full Elsevier Policy on Article Withdrawal can be found at https://www.elsevier.com/about/our-business/policies/article-withdrawal.
May 12, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28486240/dependence-stage-and-pharmacoeconomic-outcomes-in-patients-with-alzheimer-disease
#17
Tzeyu L Michaud, Robin High, Mary E Charlton, Daniel L Murman
The level of assistance patients with Alzheimer disease (AD) require in their care may be an important predictor of resource use, costs of care, and quality of life. The Dependence Scale (DS), a measure of care-assistance required, was used to estimate costs of care and quality of life of patients with AD categorized into 6 dependence stages based upon the summated item scores of the DS. Data were derived from a 3-year, noninterventional study of 132 patients with probable AD (ages, 50 to 85 y) and caregiver dyads...
May 8, 2017: Alzheimer Disease and Associated Disorders
https://www.readbyqxmd.com/read/28474724/interaction-of-silver-nanoparticles-with-metallothionein-and-ceruloplasmin-impact-on-metal-substitution-by-ag-i-corona-formation-and-enzymatic-activity
#18
Wei Liu, Isabelle A M Worms, Nathalie Herlin-Boime, Delphine Truffier-Boutry, Isabelle Michaud-Soret, Elisabeth Mintz, Claude Vidaud, Françoise Rollin-Genetet
The release of Ag(i) from silver nanoparticles (AgNPs) unintentionally spread in the environment is suspected to impair some key biological functions. In comparison with AgNO3, in-depth investigations were carried out into the interactions between citrate-coated AgNPs (20 nm) and two metalloproteins, intracellular metallothionein 1 (MT1) and plasmatic ceruloplasmin (Cp), both involved in metal homeostasis. These were chosen for their physiological relevance and the diversity of their various native metals bound because of thiol groups and/or their structural differences...
May 18, 2017: Nanoscale
https://www.readbyqxmd.com/read/28473972/importance-of-an-international-registry-for-and-collaborative-research-on-esophageal-atresia
#19
Frédéric Gottrand, Delphine Ley, Laurent Michaud, Rony Sfeir
Esophageal atresia (EA) is a rare congenital defect. Data on EA prevalence, management, and long-term outcome are lacking because the available data come from small retrospective series from tertiary referral centers. An international multicenter registry would provide strong epidemiological data from large population-based cohorts on EA prevalence and incidence, treatment, long-term morbidity, and prognosis and would thus provide accurate data for evaluation of the current guidelines for EA management. The future challenge of the new international network on EA, which was created in 2013, is to promote the creation of a collaborative database and further studies...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28472048/multispecies-mass-mortality-of-marine-fauna-linked-to-a-toxic-dinoflagellate-bloom
#20
Michel Starr, Stéphane Lair, Sonia Michaud, Michael Scarratt, Michael Quilliam, Denis Lefaivre, Michel Robert, Andrew Wotherspoon, Robert Michaud, Nadia Ménard, Gilbert Sauvé, Sylvie Lessard, Pierre Béland, Lena Measures
Following heavy precipitation, we observed an intense algal bloom in the St. Lawrence Estuary (SLE) that coincided with an unusually high mortality of several species of marine fish, birds and mammals, including species designated at risk. The algal species was identified as Alexandrium tamarense and was determined to contain a potent mixture of paralytic shellfish toxins (PST). Significant levels of PST were found in the liver and/or gastrointestinal contents of several carcasses tested as well as in live planktivorous fish, molluscs and plankton samples collected during the bloom...
2017: PloS One
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