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Wilson's disease

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https://www.readbyqxmd.com/read/28431245/host-microbe-co-metabolism-dictates-cancer-drug-efficacy-in-c-%C3%A2-elegans
#1
Timothy A Scott, Leonor M Quintaneiro, Povilas Norvaisas, Prudence P Lui, Matthew P Wilson, Kit-Yi Leung, Lucia Herrera-Dominguez, Sonia Sudiwala, Alberto Pessia, Peter T Clayton, Kevin Bryson, Vidya Velagapudi, Philippa B Mills, Athanasios Typas, Nicholas D E Greene, Filipe Cabreiro
Fluoropyrimidines are the first-line treatment for colorectal cancer, but their efficacy is highly variable between patients. We queried whether gut microbes, a known source of inter-individual variability, impacted drug efficacy. Combining two tractable genetic models, the bacterium E. coli and the nematode C. elegans, we performed three-way high-throughput screens that unraveled the complexity underlying host-microbe-drug interactions. We report that microbes can bolster or suppress the effects of fluoropyrimidines through metabolic drug interconversion involving bacterial vitamin B6, B9, and ribonucleotide metabolism...
April 20, 2017: Cell
https://www.readbyqxmd.com/read/28430891/development-and-validation-of-diagnostic-criteria-for-ibd-subtypes-with-an-emphasis-on-ibd-unclassified-in-children-a-multicenter-study-from-the-pediatric-ibd-porto-group-of-espghan
#2
Liron Birimberg-Schwartz, David M Zucker, Amichay Akriv, Salvatore Cucchiara, Fiona L Cameron, David C Wilson, Iza Lazowska, Lambri Yianni, Siba Prosad Paul, Claudio Romano, Sanja Kolacek, Stephan Buderus, Anders Pærregaard, Richard K Russell, Johanna C Escher, Dan Turner
Background: The revised Porto criteria identify subtypes of pediatric inflammatory bowel diseases: ulcerative colitis (UC), atypical UC, Inflammatory Bowel Disease Unclassified (IBDU), and Crohn's disease (CD). In continuation of the Porto criteria, we aimed to derive and validate criteria for standardizing the classification of the IBD subtypes. Methods: This was a multicenter retrospective longitudinal study from 23 centers affiliated with the Porto-group of ESPGHAN...
April 18, 2017: Journal of Crohn's & Colitis
https://www.readbyqxmd.com/read/28430540/demystifying-orbital-emergencies-a-pictorial-review
#3
Viet D Nguyen, Achint K Singh, Wilson B Altmeyer, Bundhit Tantiwongkosi
Imaging of the orbit plays an important role in the workup of orbital emergencies. Orbital imaging is particularly useful in the emergency department, where clinical history and physical examination may be limited or delayed until the exclusion or treatment of more life-threatening conditions. Cross-sectional orbital imaging with multidetector computed tomography (CT) and magnetic resonance (MR) imaging is commonly performed in addition to ultrasonography. In an emergent setting, CT is the preferred modality when evaluating for intraorbital foreign bodies, fractures, or calcifications within a mass lesion...
April 21, 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28428350/targeted-inactivation-of-copper-transporter-atp7b-in-hepatocytes-causes-liver-steatosis-and-obesity-in-mice
#4
Abigael Muchenditsi, Haojun Yang, James P Hamilton, Lahari Koganti, Franck Housseau, Lisa Aronov, Hongni Fan, Hannah Pierson, Ashima Bhattacharjee, Robert C Murphy, Cynthia L Sears, James J Potter, Clavia Ruth Wooton-Kee, Svetlana Lutsenko
The copper transporter ATP7B is essential for mammalian copper homeostasis. Mutations in ATP7B result in copper accumulation, especially in the liver, and cause Wilson disease (WD). The major role of hepatocytes in WD pathology is firmly established. It is less certain whether the excess Cu in hepatocytes is solely responsible for development of WD. To address this issue, we generated a mouse strain for Cre-mediated deletion of Atp7b and inactivated Atp7b selectively in hepatocytes. Atp7bΔ(Hep) mice accumulate copper in the liver, have elevated urinary copper, lack holo-ceruloplasmin, but show no liver disease for up to 30 weeks...
April 20, 2017: American Journal of Physiology. Gastrointestinal and Liver Physiology
https://www.readbyqxmd.com/read/28427300/object-decision-test-borb-normative-data-for-the-adult-quebec-population-and-performance-in-alzheimer-s-disease-and-the-semantic-variant-of-primary-progressive-aphasia
#5
Alexandre St-Hilaire, Marie-Claude Blackburn, Maximiliano A Wilson, Robert Jr Laforce, Carol Hudon, Joël Macoir
Object decision (OD) test is one subtest of the Birmingham Object Recognition Battery (BORB). It is useful for differential diagnosis among several neurodegenerative diseases. However, normative data provided with this battery count on very few subjects and do not control for the effect of age, which limits interpretability. The purpose of Study 1 was to provide normative data for the OD test of the BORB (version A-hard). The objectives of Study 2 were to establish the diagnostic validity of this task and predictive validity of the normative data in the case of the semantic variant of primary progressive aphasia (svPPA) and Alzheimer's disease (AD)...
April 21, 2017: Neuropsychology, Development, and Cognition. Section B, Aging, Neuropsychology and Cognition
https://www.readbyqxmd.com/read/28426531/high-fat-feeding-protects-mice-from-ventilator-induced-lung-injury-via-neutrophil-independent-mechanisms
#6
Michael R Wilson, Joanne E Petrie, Michael W Shaw, Cong Hu, Charlotte M Oakley, Samantha J Woods, Brijesh V Patel, Kieran P O'Dea, Masao Takata
OBJECTIVE: Obesity has a complex impact on acute respiratory distress syndrome patients, being associated with increased likelihood of developing the syndrome but reduced likelihood of dying. We propose that such observations are potentially explained by a model in which obesity influences the iatrogenic injury that occurs subsequent to intensive care admission. This study therefore investigated whether fat feeding protected mice from ventilator-induced lung injury. DESIGN: In vivo study...
April 19, 2017: Critical Care Medicine
https://www.readbyqxmd.com/read/28425467/hyperpolarized-13-c-spectroscopic-evaluation-of-oxidative-stress-in-a-rodent-model-of-steatohepatitis
#7
David M Wilson, Valentina Di Gialleonardo, Zhen J Wang, Valerie Carroll, Cornelius Von Morze, Andrew Taylor, Victor Sai, Mark VanCriekinge, Robert Bok, Michael A Ohliger, Kayvan R Keshari
Nonalcoholic fatty liver disease (NAFLD) has become highly prevalent, now considered the most common liver disease in the western world. Approximately one-third of patients with NASH develop non-alchoholic steatohepatitis (NASH), histologically defined by lobular and portal inflammation, and accompanied by marked oxidative stress. Patients with NASH are at increased risk for cirrhosis and hepatocellular carcinoma, and diagnosis currently requires invasive biopsy. In animal models of NASH, particularly the methionine-choline deficient (MCD) model, profound changes are seen in redox enzymes and key intracellular antioxidants...
April 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28424650/the-role-of-the-left-anterior-temporal-lobe-for-unpredictable-and-complex-mappings-in-word-reading
#8
Marilyne Joyal, Simona M Brambati, Robert J Laforce, Maxime Montembeault, Mariem Boukadi, Isabelle Rouleau, Joël Macoir, Sven Joubert, Shirley Fecteau, Maximiliano A Wilson
The anterior temporal lobes (ATLs) have been consistently associated with semantic processing which, in turn, has a key role in reading aloud single words. This study aimed to investigate (1) the reading abilities in patients with the semantic variant of primary progressive aphasia (svPPA), and (2) the relationship between gray matter (GM) volume of the left ATL and word reading performance using voxel-based morphometry (VBM). Three groups of participants (svPPA, Alzheimer's Disease, AD and healthy elderly adults) performed a reading task with exception words, regular words and pseudowords, along with a structural magnetic resonance imaging scan...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28424187/a-mediterranean-diet-lowers-blood-pressure-and-improves-endothelial-function-results-from-the-medley-randomized-intervention-trial
#9
Courtney R Davis, Jonathan M Hodgson, Richard Woodman, Janet Bryan, Carlene Wilson, Karen J Murphy
Background: The consumption of a Mediterranean diet (MedDiet) is associated with a lower risk of cardiovascular disease. However, its impact on blood pressure and endothelial function is not clear.Objective: We sought to determine the effects of adhering to the consumption of a MedDiet for 6 mo on blood pressure and endothelial function in older, healthy Australians.Design: A total of 166 men and women aged >64 y were allocated via minimization to consume either a MedDiet (n = 85) or their habitual diet (HabDiet; control: n = 81) for 6 mo...
April 19, 2017: American Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28422270/characteristics-and-incidence-of-chronic-illness-in-community-dwelling-predominantly-male-u-s-veteran-centenarians
#10
Raya Elfadel Kheirbek, Ali Fokar, Nawar Shara, Leakie K Bell-Wilson, Hans J Moore, Edwin Olsen, Marc R Blackman, Maria D Llorente
OBJECTIVES: To assess the incidence of chronic illness and its effect on veteran centenarians. DESIGN: Retrospective longitudinal cohort study. SETTING: United States Veterans Affairs Corporate Data Warehouse (CDW). PARTICIPANTS: Community-dwelling veterans born between 1910 and 1915 who survived to at least age 80 (N = 86,892; 31,121 octogenarians, 52,420 nonagenarians, 3,351 centenarians). MEASUREMENTS: The Kaplan-Meier method was used to estimate cumulative incidence of chronic conditions according to age group...
April 19, 2017: Journal of the American Geriatrics Society
https://www.readbyqxmd.com/read/28422173/critical-involvement-of-zeb2-in-collagen-fibrillogenesis-the-molecular-similarity-between-mowat-wilson-syndrome-and-ehlers-danlos-syndrome
#11
Mika Teraishi, Mikiro Takaishi, Kimiko Nakajima, Mitsunori Ikeda, Yujiro Higashi, Shinji Shimoda, Yoshinobu Asada, Atsushi Hijikata, Osamu Ohara, Yoko Hiraki, Seiji Mizuno, Toshiyuki Fukada, Takahisa Furukawa, Nobuaki Wakamatsu, Shigetoshi Sano
Mowat-Wilson syndrome (MOWS) is a congenital disease caused by de novo heterozygous loss of function mutations or deletions of the ZEB2 gene. MOWS patients show multiple anomalies including intellectual disability, a distinctive facial appearance, microcephaly, congenital heart defects and Hirschsprung disease. However, the skin manifestation(s) of patients with MOWS has not been documented in detail. Here, we recognized that MOWS patients exhibit many Ehlers-Danlos syndrome (EDS)-like symptoms, such as skin hyperextensibility, atrophic scars and joint hypermobility...
April 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28421636/leveraging-cell-type-specific-regulatory-regions-to-detect-snps-associated-with-tissue-factor-pathway-inhibitor-plasma-levels
#12
Jessica Dennis, Alejandra Medina-Rivera, Vinh Truong, Lina Antounians, Nora Zwingerman, Giovana Carrasco, Lisa Strug, Phil Wells, David-Alexandre Trégouët, Pierre-Emmanuel Morange, Michael D Wilson, France Gagnon
Tissue factor pathway inhibitor (TFPI) regulates the formation of intravascular blood clots, which manifest clinically as ischemic heart disease, ischemic stroke, and venous thromboembolism (VTE). TFPI plasma levels are heritable, but the genetics underlying TFPI plasma level variability are poorly understood. Herein we report the first genome-wide association scan (GWAS) of TFPI plasma levels, conducted in 251 individuals from five extended French-Canadian Families ascertained on VTE. To improve discovery, we also applied a hypothesis-driven (HD) GWAS approach that prioritized single nucleotide polymorphisms (SNPs) in (1) hemostasis pathway genes, and (2) vascular endothelial cell (EC) regulatory regions, which are among the highest expressers of TFPI...
April 18, 2017: Genetic Epidemiology
https://www.readbyqxmd.com/read/28420376/workflow-standardization-of-a-novel-team-care-model-to-improve-chronic-care-a-quasi-experimental-study
#13
Laura Panattoni, Lily Hurlimann, Caroline Wilson, Meg Durbin, Ming Tai-Seale
BACKGROUND: Team-based chronic care models have not been widely adopted in community settings, partly due to their varying effectiveness in randomized control trials, implementation challenges, and concerns about physician acceptance. The Palo Alto Medical Foundation designed and implemented "Champion," a novel team-based model that includes new standard work (e.g. proactive patient outreach, pre-visit schedule grooming, depression screening, care planning, health coaching) to support patients' self-management of hypertension and diabetes...
April 19, 2017: BMC Health Services Research
https://www.readbyqxmd.com/read/28418814/ionizing-radiation-exposure-during-pregnancy-effects-on-postnatal-development-and-life
#14
Shayenthiran Sreetharan, Christopher Thome, Sujeenthar Tharmalingam, Devon E Jones, Adomas V Kulesza, Neelam Khaper, Simon J Lees, Joanna Y Wilson, Douglas R Boreham, T C Tai
Reliable human data on the effects of prenatal exposure to ionizing radiation are largely based on high-dose exposures. Exposure to low doses may produce effects that are not easily observable at birth, and may persist over the course of the offspring's postnatal life. This is important when considering fetal programing, a phenomenon characterized by changes in offspring phenotype due to a stress experienced in utero. In this review, we briefly summarize the known effects of both high- and low-dose exposure to ionizing radiation during pregnancy in humans...
April 18, 2017: Radiation Research
https://www.readbyqxmd.com/read/28418377/the-magnaporthe-oryzae-nitrooxidative-stress-response-suppresses-rice-innate-immunity-during-blast-disease
#15
Margarita Marroquin-Guzman, David Hartline, Janet D Wright, Christian Elowsky, Travis J Bourret, Richard A Wilson
Understanding how microorganisms manipulate plant innate immunity and colonize host cells is a major goal of plant pathology. Here, we report that the fungal nitrooxidative stress response suppresses host defences to facilitate the growth and development of the important rice pathogen Magnaporthe oryzae in leaf cells. Nitronate monooxygenases encoded by NMO genes catalyse the oxidative denitrification of nitroalkanes. We show that the M. oryzae NMO2 gene is required for mitigating damaging lipid nitration under nitrooxidative stress conditions and, consequently, for using nitrate and nitrite as nitrogen sources...
April 18, 2017: Nature Microbiology
https://www.readbyqxmd.com/read/28416395/the-early-history-of-manganese-and-the-recognition-of-its-neurotoxicity-1837-1936
#16
Paul D Blanc
The history of the biomedical recognition manganese-caused neurotoxicity mirrors changing technologies as much as it does the ontology of parkinsonism. The initial 1837 report of manganese-induced neurologic injury was made by John Couper, a university-based physician in Scotland. He made clear that the outbreak occurred among workers at the Charles Tennant bleach manufactory in the environs of Glasgow. The relatively new technology of chlorine generation using manganese accounted for the novel exposure involved...
April 14, 2017: Neurotoxicology
https://www.readbyqxmd.com/read/28416286/in%C3%A2-vivo-rnai-screen-unveils-ppar%C3%AE-as-a-regulator-of-hematopoietic-stem-cell-homeostasis
#17
Mathieu Sertorio, Wei Du, Surya Amarachintha, Andrew Wilson, Qishen Pang
Hematopoietic stem cell (HSC) defects can cause repopulating impairment leading to hematologic diseases. To target HSC deficiency in a disease setting, we exploited the repopulating defect of Fanconi anemia (FA) HSCs to conduct an in vivo short hairpin RNA (shRNA) screen. We exposed Fancd2(-/-) HSCs to a lentiviral shRNA library targeting 947 genes. We found enrichment of shRNAs targeting genes involved in the PPARγ pathway that has not been linked to HSC homeostasis. PPARγ inhibition by shRNA or chemical compounds significantly improves the repopulating ability of Fancd2(-/-) HSCs...
April 12, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/28415689/targeting-cd157-in-aml-using-a-novel-fc-engineered-antibody-construct
#18
Christina Krupka, Felix S Lichtenegger, Thomas Köhnke, Jan Bögeholz, Veit Bücklein, Michael Roiss, Torben Altmann, To Uyen Do, Rachel Dusek, Keith Wilson, Arnima Bisht, Jon Terrett, Dee Aud, Esteban Pombo-Villar, Christian Rohlff, Wolfgang Hiddemann, Marion Subklewe
Antibody-based immunotherapy represents a promising strategy to eliminate chemorefractory leukemic cells in acute myeloid leukemia (AML). In this study, we evaluated a novel Fc-engineered antibody against CD157 (MEN1112) for its suitability as immunotherapy in AML. CD157 was expressed in 97% of primary AML patient samples. A significant, albeit lower expression level of CD157 was observed within the compartment of leukemia-initiating cells, which are supposed to be the major source of relapse. In healthy donor bone marrow, CD157 was expressed on CD34+ cells...
March 9, 2017: Oncotarget
https://www.readbyqxmd.com/read/28414029/how-well-does-capture%C3%A2-translate-an-exploratory-analysis-of-a-copd-case-finding-method-for-spanish-speaking-patients
#19
Wilson A Quezada, Beth A Whippo, Patricia A Jellen, Nancy K Leidy, David Mannino, Katherine J Kim, MeiLan K Han, Julia F Houfek, Barry Make, Karen G Malley, Catherine A Meldrum, Stephen Rennard, Barbara P Yawn, Fernando Martinez, Byron M Thomashow
BACKGROUND: This study tested the properties of a Spanish translation of CAPTURE™ (COPD Assessment in Primary Care To Identify Undiagnosed Respiratory Disease and Exacerbation Risk) with selective use of peak expiratory flow (PEF). METHODS: Analyses of data from the Spanish-speaking cohort of the cross-sectional, case-control study used to develop CAPTURE. Translation procedures included forward and backward translation, reconciliation, and cognitive interviewing to assure linguistic and cultural equivalence...
April 13, 2017: Chest
https://www.readbyqxmd.com/read/28409351/inflammation-and-fibrosis-in-polycystic-kidney-disease
#20
Cheng Jack Song, Kurt A Zimmerman, Scott J Henke, Bradley K Yoder
Polycystic kidney disease (PKD) is a commonly inherited disorder characterized by cyst formation and fibrosis (Wilson, N Engl J Med 350:151-164, 2004) and is caused by mutations in cilia or cilia-related proteins, such as polycystin 1 or 2 (Oh and Katsanis, Development 139:443-448, 2012; Kotsis et al., Nephrol Dial Transplant 28:518-526, 2013). A major pathological feature of PKD is the development of interstitial inflammation and fibrosis with an associated accumulation of inflammatory cells (Grantham, N Engl J Med 359:1477-1485, 2008; Zeier et al...
2017: Results and Problems in Cell Differentiation
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