keyword
MENU ▼
Read by QxMD icon Read
search

Wilson disease

keyword
https://www.readbyqxmd.com/read/28806445/use-of-laboratory-markers-in-addition-to-symptoms-for-diagnosis-of-inflammatory-bowel-disease-in-children-a-meta-analysis-of-individual-patient-data
#1
Gea A Holtman, Yvonne Lisman-van Leeuwen, Andrew S Day, Ulrika L Fagerberg, Paul Henderson, Stevan T Leach, Gøri Perminow, David Mack, Patrick F van Rheenen, Els van de Vijver, David C Wilson, Johannes B Reitsma, Marjolein Y Berger
Importance: Blood markers and fecal calprotectin are used in the diagnostic workup for inflammatory bowel disease (IBD) in pediatric patients. Any added diagnostic value of these laboratory markers remains unclear. Objective: To determine whether adding laboratory markers to evaluation of signs and symptoms improves accuracy when diagnosing pediatric IBD. Data Sources: A literature search of MEDLINE and EMBASE from inception through September 26, 2016...
August 14, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/28806082/the-discovery-of-novel-antimalarial-aminoxadiazoles-as-a-promising-nonendoperoxide-scaffold
#2
Elena Sandoval, María José Lafuente-Monasterio, María J Almela, Pablo Castañeda, María Belén Jiménez Díaz, María S Martínez-Martínez, Jaume Vidal, Íñigo Angulo-Barturen, Paul Bamborough, Jeremy Burrows, Nicholas Cammack, María J Chaparro, José M Coterón, Cristina de Cozar, Benigno Crespo, Beatriz Díaz, Gerard Drewes, Esther Fernández, Santiago Ferrer-Bazaga, María Teresa Fraile, Francisco J Gamo, Sonja Ghidelli-Disse, Rubén Gómez, John Haselden, Sophie Huss, María Luisa León, Jaime de Mercado, Simon J F Macdonald, José Ignacio Martín Hernando, Sara Prats, Margarita Puente, Anne Rodríguez, Juan C de la Rosa, Lourdes Rueda, Carolyn Selenski, Paul Willis, David M Wilson, Michael Witty, Félix Calderón
Since the appearance of resistance to the current front-line antimalarial treatments, ACTs (artemisinin combination therapies), the discovery of novel chemical entities to treat the disease is recognized as a major global health priority. From the GSK antimalarial set, we identified an aminoxadiazole with an antiparasitic profile comparable with artemisinin (1), with no cross-resistance in a resistant strains panel and a potential new mode of action. A medicinal chemistry program allowed delivery of compounds such as 19 with high solubility in aqueous media, an acceptable toxicological profile, and oral efficacy...
August 14, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28805879/downregulation-of-hepatic-multi-drug-resistance-protein-1-mdr1-after-copper-exposure
#3
Sara Reinartz Groba, Sarah Guttmann, Christoph Niemietz, Friedrich Bernick, Vanessa Sauer, Oliver Hachmöller, Uwe Karst, Hans Zischka, Andree Zibert, Hartmut H Schmidt
Copper homeostasis is strictly regulated in mammalian cells. We investigated the adaptation of hepatocytes after long-term copper exposure. Copper-resistant hepatoma HepG2 cell lines lacking ATP7B were generated. Growth, copper accumulation, gene expression, and transport were determined. Hepatocyte-like cells derived from a Wilson disease (WD) patient and the liver of a WD animal model were also studied. The rapidly gained copper resistance was found to be stable, as subculturing of cells in the absence of added copper (weaning) did not restore copper sensitivity...
August 14, 2017: Metallomics: Integrated Biometal Science
https://www.readbyqxmd.com/read/28805579/nonmotor-manifestations-of-wilson-s-disease
#4
Samar Biswas, Neelanjana Paul, Shyamal K Das
Wilson disease (WD) is an autosomal genetic disorder characterized by excessive copper deposition initially in liver (hepatic variant) followed by brain (neuropsychiatric variant) and other organs such as cornea and kidney due to defect in biliary copper excretion. Predominant presentations of neuropsychiatric variant are extrapyramidal motor dysfunctions such as dystonias, Parkinsonism, choreoathetosis, tremor, and ataxias. Nonmotor symptoms (NMS) can appear before clinical disease expression and during ongoing disease process...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28804689/the-role-of-the-skin-and-gut-microbiome-in-psoriatic-disease
#5
Di Yan, Naiem Issa, Ladan Afifi, Caleb Jeon, Hsin Wen Chang, Wilson Liao
PURPOSE: To understand the changes in the microbiome in psoriatic disease, we conducted a systematic review of studies comparing the skin and gut microbiota in psoriatic individuals and healthy controls. FINDINGS: Our review of studies pertaining to the cutaneous microbiome showed a trend towards an increased relative abundance of Streptococcus and a decreased level of Propionibacterium in psoriasis patients compared to controls. In the gut microbiome, the ratio of Firmicutes and Bacteroidetes was perturbed in psoriatic individuals compared to healthy controls...
June 2017: Current Dermatology Reports
https://www.readbyqxmd.com/read/28802921/imaging-the-nonmotor-symptoms-in-parkinson-s-disease
#6
Tayyabah Yousaf, Heather Wilson, Marios Politis
Parkinson's disease is acknowledged to be a multisystem syndrome, manifesting as a result of multineuropeptide dysfunction, including dopaminergic, cholinergic, serotonergic, and noradrenergic deficits. This multisystem disorder ultimately leads to the presentation of a range of nonmotor symptoms, now appreciated to be an integral part of the disease-specific spectrum of symptoms, often preceding the diagnosis of motor Parkinson's disease. In this chapter, we review the dopaminergic and nondopaminergic basis of these symptoms by exploring the neuroimaging evidence based on several techniques including positron emission tomography, single-photon emission computed tomography molecular imaging, magnetic resonance imaging, functional magnetic resonance imaging, and diffusion tensor imaging...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28802086/acute-kidney-injury-is-common-with-intravenous-abuse-of-extended-release-oral-oxymorphone-and-delayed-renal-recovery-rates-are-associated-with-increased-kdigo-staging
#7
Alex K Bonnecaze, Matthew Whitaker Wilson, Ajay Dharod, Alison Fletcher, P J Miller
BACKGROUND: Prescription opioid abuse poses a serious problem in the United States, representing 615 per 100,000 deaths annually. Extended-release oxymorphone (Opana-ER) is an oral opioid pain medication that has recently been found to cause thrombotic microangiopathy when intravenously abused. In this retrospective study, prevalence and outcomes of AKI among patients intravenously abusing extended-release oral oxymorphone were analyzed. METHODS: A query of electronic medical records for "drug abuse" at an academic medical center during January 2012 to December 2015 was performed and yielded 2350 patients...
August 12, 2017: Nephrology
https://www.readbyqxmd.com/read/28799694/patient-with-a-total-artificial-heart-maintained-on-outpatient-dialysis-while-listed-for-combined-organ-transplant-a-single-center-experience
#8
Ramy M Hanna, Huma Hasnain, Mohammad Kamgar, Mina Hanna, Raffi Minasian, James Wilson
Advanced mechanical circulatory support is increasingly being used with more sophisticated devices that can deliver pulsatile rather than continuous flow. These devices are more portable as well, allowing patients to await cardiac transplantation in an outpatient setting. It is known that patients with renal failure are at increased risk for developing worsening acute kidney injury during implantation of a ventricular assist device (VAD) or more advanced modalities like a total artificial heart (TAH). Dealing with patients who have an implanted TAH who develop renal failure has been a challenge with the majority of such patients having to await a combined cardiac and renal transplant prior to transition to outpatient care...
August 11, 2017: Hemodialysis International
https://www.readbyqxmd.com/read/28798185/whole-genome-sequence-of-starmerella-bacillaris-pas13-a-nonconventional-enological-yeast-with-antifungal-activity
#9
Wilson José Fernandes Lemos Junior, Laura Treu, Vinícius da Silva Duarte, Milena Carlot, Chiara Nadai, Stefano Campanaro, Alessio Giacomini, Viviana Corich
Starmerella bacillaris is a fermentative yeast commonly found in vineyards. Here, we present the draft genome sequence of S. bacillaris PAS13, a nonconventional enological yeast with a potential role as a biocontrol agent. This gene sequence will provide insights into the genetic basis of yeast activity against gray mold disease (Botrytis cinerea).
August 10, 2017: Genome Announcements
https://www.readbyqxmd.com/read/28798145/tnf-induces-neutrophil-adhesion-via-formin-dependent-cytoskeletal-reorganization-and-activation-of-%C3%AE-integrin-function
#10
Angélica Aparecida Antoniellis Silveira, Venina Marcela Dominical, Camila Bononi Almeida, Hanan Chweih, Wilson Alves Ferreira, Cristina Pontes Vicente, Fabio Trindade Maranhão Costa, Claudio C Werneck, Fernando Ferreira Costa, Nicola Conran
Although essential for inflammatory responses, leukocyte recruitment to blood vessel walls in response to inflammatory stimuli, such as TNF-α, can contribute to vascular occlusion in inflammatory diseases, including atherosclerosis. We aimed to further characterize the mechanisms by which TNF stimulates adhesive and morphologic alterations in neutrophils. Microfluidic and intravital assays confirmed the potent effect that TNF has on human and murine neutrophil adhesion and recruitment in vitro and in vivo, respectively...
August 10, 2017: Journal of Leukocyte Biology
https://www.readbyqxmd.com/read/28797648/overview-of-transcriptomic-analysis-of-all-human-proteases-non-proteolytic-homologs-and-inhibitors-organ-tissue-and-ovarian-cancer-cell-line-expression-profiling-of-the-human-protease-degradome-by-the-clip-chip%C3%A2-dna-microarray
#11
REVIEW
Reinhild Kappelhoff, Xose S Puente, Claire H Wilson, Arun Seth, Carlos Lopez-Otin, Christopher M Overall
The protease degradome is defined as the complete repertoire of proteases and inhibitors, and their nonfunctional homologs present in a cell, tissues or organism at any given time. We review the tissue distribution of virtually the entire degradome in 23 different human tissues and 6 ovarian cancer cell lines. To do so, we developed the CLIP-CHIP™, a custom microarray based on a 70-mer oligonucleotide platform, to specifically profile the transcripts of the entire repertoire of 473 active human proteases, 156 protease inhibitors and 92 non-proteolytically active homologs known at the design date using one specific oligonucleotide per transcript...
August 7, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28797497/reaching-hepatitis-c-virus-elimination-targets-requires-health-system-interventions-to-enhance-the-care-cascade
#12
Nick Scott, Joseph S Doyle, David P Wilson, Amanda Wade, Jess Howell, Alisa Pedrana, Alexander Thompson, Margaret E Hellard
BACKGROUND: Modelling suggests that achieving the World Health Organization's elimination targets for hepatitis C virus (HCV) is possible by scaling up use of direct-acting antiviral (DAA) therapy. However, poor linkage to health services and retention in care presents a major barrier, in particular among people who inject drugs (PWID). We identify and assess the cost-effectiveness of additional health system interventions required to achieve HCV elimination targets in Australia, a setting where all people living with HCV have access to DAA therapy...
August 7, 2017: International Journal on Drug Policy
https://www.readbyqxmd.com/read/28797287/is-a-high-serum-copper-concentration-a-risk-factor-for-implantation-failure
#13
Hidehiko Matsubayashi, Kotaro Kitaya, Kohei Yamaguchi, Rie Nishiyama, Yukiko Takaya, Tomomoto Ishikawa
BACKGROUND: Copper-containing contraceptive devices may deposit copper ions in the endometrium, resulting in implantation failure. The deposition of copper ions in many organs has been reported in patients with untreated Wilson's disease. Since these patients sometimes exhibit subfertility and/or early pregnancy loss, copper ions were also considered to accumulate in the uterine endometrium. Wilson's disease patients treated with zinc successfully delivered babies because zinc interfered with the absorption of copper from the gastrointestinal tract...
August 10, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28793370/prevalence-of-tdp-43-proteinopathy-in-cognitively-normal-older-adults-systematic-review-and-meta-analysis
#14
Camila Nascimento, Ana Tereza Di Lorenzo Alho, Caroline Bazan Conceição Amaral, Renata Elane Paraizo Leite, Ricardo Nitrini, Wilson Jacob-Filho, Carlos Augusto Pasqualucci, Suvi Rosa Kastehelmi Hokkanen, Sally Hunter, Hannah Keage, Gabor G Kovacs, Lea Tenenholz Grinberg, Claudia Kimie Suemoto
OBJECTIVE: To perform a systematic review and meta-analysis on the prevalence of TDP-43 proteinopathy in cognitively normal older adults. METHODS: We systematically reviewed and performed a meta-analysis on the prevalence of TDP-43 proteinopathy in older adults with normal cognition, evaluated by the Mini-Mental State Examination or the Clinical Dementia Rating. We estimated the overall prevalence of TDP-43 using random-effect models, and stratified by age, sex, sample size, study quality, antibody used to assess TDP-43 aggregates, analyzed brain regions, Braak stage, CERAD score, hippocampal sclerosis, and geographic location...
August 9, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28792800/national-antimicrobial-resistance-monitoring-system-two-decades-of-advancing-public-health-through-integrated-surveillance-of-antimicrobial-resistance
#15
Beth E Karp, Heather Tate, Jodie R Plumblee, Uday Dessai, Jean M Whichard, Eileen L Thacker, Kis Robertson Hale, Wanda Wilson, Cindy R Friedman, Patricia M Griffin, Patrick F McDermott
Drug-resistant bacterial infections pose a serious and growing public health threat globally. In this review, we describe the role of the National Antimicrobial Resistance Monitoring System (NARMS) in providing data that help address the resistance problem and show how such a program can have broad positive impacts on public health. NARMS was formed two decades ago to help assess the consequences to human health arising from the use of antimicrobial drugs in food animal production in the United States. A collaboration among the Centers for Disease Control and Prevention, the U...
August 9, 2017: Foodborne Pathogens and Disease
https://www.readbyqxmd.com/read/28791018/genetic-and-functional-associations-with-decreased-anti-inflammatory-tumor-necrosis-factor-alpha-induced-protein-3-in-macrophages-from-subjects-with-axial-spondyloarthritis
#16
Yiping Liu, Zhan Ye, Xiang Li, Jennifer L Anderson, Mike Khan, Douglas DaSilva, Marissa Baron, Deborah Wilson, Vera Bocoun, Lynn C Ivacic, Steven J Schrodi, Judith A Smith
OBJECTIVE: Tumor necrosis factor alpha-induced protein 3 (TNFAIP3) is an anti-inflammatory protein implicated in multiple autoimmune and rheumatologic conditions. We hypothesized that lower levels of TNFAIP3 contributes to excessive cytokine production in response to inflammatory stimuli in axial spondyloarthritis (AxSpA). A further aim was to determine the immune signaling and genetic variation regulating TNFAIP3 expression in individual subjects. METHODS: Blood-derived macrophages from 50 AxSpA subjects and 30 healthy controls were assessed for TNFAIP3 expression...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28790179/high-prevalence-of-ccdc103-p-his154pro-mutation-causing-primary-ciliary-dyskinesia-disrupts-protein-oligomerisation-and-is-associated-with-normal-diagnostic-investigations
#17
Amelia Shoemark, Eduardo Moya, Robert A Hirst, Mitali P Patel, Evelyn A Robson, Jane Hayward, Juliet Scully, Mahmoud R Fassad, William Lamb, Miriam Schmidts, Mellisa Dixon, Ramila S Patel-King, Andrew V Rogers, Andrew Rutman, Claire L Jackson, Patricia Goggin, Bruna Rubbo, Sarah Ollosson, Siobhán Carr, Woolf Walker, Beryl Adler, Michael R Loebinger, Robert Wilson, Andrew Bush, Hywel Williams, Christopher Boustred, Lucy Jenkins, Eamonn Sheridan, Eddie M K Chung, Christopher M Watson, Thomas Cullup, Jane S Lucas, Priti Kenia, Christopher O'Callaghan, Stephen M King, Claire Hogg, Hannah M Mitchison
RATIONALE: Primary ciliary dyskinesia is a genetically heterogeneous inherited condition characterised by progressive lung disease arising from abnormal cilia function. Approximately half of patients have situs inversus. The estimated prevalence of primary ciliary dyskinesia in the UK South Asian population is 1:2265. Early, accurate diagnosis is key to implementing appropriate management but clinical diagnostic tests can be equivocal. OBJECTIVES: To determine the importance of genetic screening for primary ciliary dyskinesia in a UK South Asian population with a typical clinical phenotype, where standard testing is inconclusive...
August 8, 2017: Thorax
https://www.readbyqxmd.com/read/28790053/progenitor-cells-and-clinical-outcomes-in-patients-with-heart-failure
#18
Ayman Samman Tahhan, Muhammad Hammadah, Pratik B Sandesara, Salim S Hayek, Andreas P Kalogeropoulos, Ayman Alkhoder, Heval Mohamed Kelli, Matthew Topel, Nima Ghasemzadeh, Kaavya Chivukula, Yi-An Ko, Hiroshi Aida, Iraj Hesaroieh, Ernestine Mahar, Jonathan H Kim, Peter Wilson, Leslee Shaw, Viola Vaccarino, Edmund K Waller, Arshed A Quyyumi
BACKGROUND: Endogenous regenerative capacity, assessed as circulating progenitor cell (PC) numbers, is an independent predictor of adverse outcomes in patients with cardiovascular disease. However, their predictive role in heart failure (HF) remains controversial. We assessed the relationship between the number of circulating PCs and the pathogenesis and severity of HF and their impact on incident HF events. METHODS AND RESULTS: We recruited 2049 adults of which 651 had HF diagnosis...
August 2017: Circulation. Heart Failure
https://www.readbyqxmd.com/read/28783042/inborn-errors-in-rna-polymerase-iii-underlie-severe-varicella-zoster-virus-infections
#19
Benson Ogunjimi, Shen-Ying Zhang, Katrine B Sørensen, Kristian A Skipper, Madalina Carter-Timofte, Gaspard Kerner, Stefanie Luecke, Thaneas Prabakaran, Yujia Cai, Josephina Meester, Esther Bartholomeus, Nikhita Ajit Bolar, Geert Vandeweyer, Charlotte Claes, Yasmine Sillis, Lazaro Lorenzo, Raffaele A Fiorenza, Soraya Boucherit, Charlotte Dielman, Steven Heynderickx, George Elias, Andrea Kurotova, Ann Vander Auwera, Lieve Verstraete, Lieven Lagae, Helene Verhelst, Anna Jansen, Jose Ramet, Arvid Suls, Evelien Smits, Berten Ceulemans, Lut Van Laer, Genevieve Plat Wilson, Jonas Kreth, Capucine Picard, Horst Von Bernuth, Joël Fluss, Stephane Chabrier, Laurent Abel, Geert Mortier, Sebastien Fribourg, Jacob Giehm Mikkelsen, Jean-Laurent Casanova, Søren R Paludan, Trine H Mogensen
Varicella zoster virus (VZV) typically causes chickenpox upon primary infection. In rare cases, VZV can give rise to life-threatening disease in otherwise healthy people, but the immunological basis for this remains unexplained. We report 4 cases of acute severe VZV infection affecting the central nervous system or the lungs in unrelated, otherwise healthy children who are heterozygous for rare missense mutations in POLR3A (one patient), POLR3C (one patient), or both (two patients). POLR3A and POLR3C encode subunits of RNA polymerase III...
August 7, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28782441/connecting-remote-populations-to-public-health-the-case-for-a-digital-immunisation-information-system-in-nunavut
#20
Lindsay A Wilson, Barry Pakes, Malia S Q Murphy, Katherine M Atkinson, Cameron Bell, Kumanan Wilson
Despite the best efforts of local healthcare workers and health officials, Nunavut, a large geographical region in Northern Canada, has struggled with outbreaks of vaccine-preventable diseases (VPD). We contend that the implementation of an immunisation information system (IIS) could strengthen prevention and response efforts to this and future outbreaks of vaccine-preventable diseases. Developing an IIS in Nunavut that builds on the existing CANImmunize infrastructure would reduce the cost and complexity of developing a new IIS, and allow Nunavut to benefit from the ongoing efforts to secure data on the CANImmunize platform...
2017: International Journal of Circumpolar Health
keyword
keyword
44832
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"