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https://www.readbyqxmd.com/read/29049981/angiotensin-receptor-blockade-improves-cardiac-mitochondrial-activity-in-response-to-an-acute-glucose-load-in-obese-insulin-resistant-rats
#1
Max Thorwald, Ruben Rodriguez, Andrew Lee, Bridget Martinez, Janos Peti-Peterdi, Daisuke Nakano, Akira Nishiyama, Rudy M Ortiz
Hyperglycemia increases the risk of oxidant overproduction in the heart through activation of a multitude of pathways. Oxidation of mitochondrial enzymes may impair their function resulting in accumulation of intermediates and reverse electron transfer, contributing to mitochondrial dysfunction. Furthermore, the renin-angiotensin system (RAS) becomes inappropriately activated during metabolic syndrome, increasing oxidant production. To combat excess oxidant production, the transcription factor, nuclear factor erythriod-2- related factor 2 (Nrf2), induces expression of many antioxidant genes...
October 7, 2017: Redox Biology
https://www.readbyqxmd.com/read/29046738/colorectal-cancer-incidence-in-path_mlh1-carriers-subjected-to-different-follow-up-protocols-a-prospective-lynch-syndrome-database-report
#2
Toni Seppälä, Kirsi Pylvänäinen, Dafydd Gareth Evans, Heikki Järvinen, Laura Renkonen-Sinisalo, Inge Bernstein, Elke Holinski-Feder, Paola Sala, Annika Lindblom, Finlay Macrae, Ignacio Blanco, Rolf Sijmons, Jacqueline Jeffries, Hans Vasen, John Burn, Sigve Nakken, Eivind Hovig, Einar Andreas Rødland, Kukatharmini Tharmaratnam, Wouter H de Vos Tot Nederveen Cappel, James Hill, Juul Wijnen, Mark Jenkins, Maurizio Genuardi, Kate Green, Fiona Lalloo, Lone Sunde, Miriam Mints, Lucio Bertario, Marta Pineda, Matilde Navarro, Monika Morak, Ian M Frayling, John-Paul Plazzer, Julian R Sampson, Gabriel Capella, Gabriela Möslein, Jukka-Pekka Mecklin, Pål Møller
BACKGROUND: We have previously reported a high incidence of colorectal cancer (CRC) in carriers of pathogenic MLH1 variants (path_MLH1) despite follow-up with colonoscopy including polypectomy. METHODS: The cohort included Finnish carriers enrolled in 3-yearly colonoscopy (n = 505; 4625 observation years) and carriers from other countries enrolled in colonoscopy 2-yearly or more frequently (n = 439; 3299 observation years). We examined whether the longer interval between colonoscopies in Finland could explain the high incidence of CRC and whether disease expression correlated with differences in population CRC incidence...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29037852/the-hajdu-cheney-mutation-is-a-determinant-of-b-cell-allocation-of-the-splenic-marginal-zone
#3
Jungeun Yu, Stefano Zanotti, Bhavita Walia, Evan Jellison, Archana Sanjay, Ernesto Canalis
The Notch2 receptor is a determinant of B cell function, and gain-of-NOTCH2-function mutations are associated with Hajdu Cheney Syndrome (HCS), a disease presenting with osteoporosis and acroosteolysis. We generated a mouse model reproducing the HCS mutation (Notch2HCS), and heterozygous global mutant mice displayed gain-of-Notch2 function. In the mutant spleen, the characteristic perifollicular rim marking the marginal zone (MZ), which is the interface between the non-lymphoid red pulp and the lymphoid white pulp, merged with components of the white pulp...
October 13, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/29030857/funding-blood-safety-in-the-21st-century
#4
Luke Ifland, Evan M Bloch, John P Pitman
BACKGROUND: Since 2000, there has been an historic increase in international development assistance, including blood safety projects. The result has been increased blood donations and infectious disease screening in many beneficiary countries. A comprehensive examination of international development assistance for blood safety has yet to be completed. STUDY DESIGN AND METHODS: This report examines publicly available information, including donor agency websites and databases and data from the 2008 and 2012 World Health Organization Global Database on Blood Safety...
October 13, 2017: Transfusion
https://www.readbyqxmd.com/read/29028941/dysregulation-of-cortical-neuron-dna-methylation-profile-in-autism-spectrum-disorder
#5
Stefano Nardone, Dev Sharan Sams, Antonino Zito, Eli Reuveni, Evan Elliott
Autism Spectrum Disorder (ASD) is a complex neuropsychiatric syndrome whose etiology includes genetic and environmental components. Since epigenetic marks are sensitive to environmental insult, they may be involved in the development of ASD. Initial brain studies have suggested a dysregulation of epigenetic marks in ASD. However, due to cellular heterogeneity in the brain, these studies have not determined if there is a true change in the neuronal epigenetic signature. Here, we report a genome-wide methylation study on fluorescence-activated cell sorting-sorted neuronal nuclei from the frontal cortex of 16 male ASD and 15 male control subjects...
September 28, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/29026866/a-prospective-observational-study-of-the-epidemiology-management-and-outcomes-of-skin-and-soft-tissue-infections-due-to-carbapenem-resistant-enterobacteriaceae
#6
Oryan Henig, Eric Cober, Sandra S Richter, Federico Perez, Robert A Salata, Robert C Kalayjian, Richard R Watkins, Steve Marshall, Susan D Rudin, T Nicholas Domitrovic, Andrea M Hujer, Kristine M Hujer, Yohei Doi, Scott Evans, Vance G Fowler, Robert A Bonomo, David van Duin, Keith S Kaye
BACKGROUND: This study was performed to characterize the epidemiology, management, and outcomes of skin and soft tissue infection (SSTI) and colonization due to carbapenem-resistant Enterobacteriaceae (CRE). METHODS: Patients from the Consortium on Resistance Against Carbapenem in Klebsiella and Other Enterobacteriaceae (CRACKLE-1) from December 24, 2011 to October 1, 2014 with wound cultures positive for CRE were included in the study. Predictors of surgical intervention were analyzed...
2017: Open Forum Infectious Diseases
https://www.readbyqxmd.com/read/29021228/immune-reconstitution-and-survival-of-100-scid-patients-post-hematopoietic-cell-transplant-a-pidtc-natural-history-study
#7
Jennifer Heimall, Brent R Logan, Morton J Cowan, Luigi D Notarangelo, Linda M Griffith, Jennifer M Puck, Donald B Kohn, Michael A Pulsipher, Suhag Parikh, Caridad Martinez, Neena Kapoor, Richard O'Reilly, Michael Boyer, Sung-Yun Pai, Frederick Goldman, Lauri Burroughs, Sharat Chandra, Morris Kletzel, Monica Thakar, James Connelly, Geoff Cuvelier, Blachy Davila, Evan Shereck, Alan Knutsen, Kathleen E Sullivan, Kenneth DeSantes, Alfred Gillio, Elie Haddad, Aleksandra Petrovic, Troy Quigg, Angela R Smith, Elizabeth Stenger, Ziyan Yin, William T Shearer, Thomas Fleisher, Rebecca H Buckley, Christopher C Dvorak
The Primary Immune Deficiency Treatment Consortium (PIDTC) is enrolling children with severe combined immunodeficiency (SCID) to a prospective natural history study. We analyzed patients treated with allogeneic hematopoietic cell transplantation (HCT) from 2010-2014, including 68 with typical SCID and 32 with leaky SCID, Omenn Syndrome or Reticular Dysgenesis. Most (59%) were diagnosed by newborn screening or family history. The 2-year overall survival (OS) was 90%but was 95% for those infection-free at HCT vs...
October 11, 2017: Blood
https://www.readbyqxmd.com/read/28992237/impacts-of-metabolic-syndrome-scores-on-cerebrovascular-conductance-are-mediated-by-arterial-stiffening
#8
Evan P Pasha, Alex C Birdsill, Stephanie Oleson, Andreana P Haley, Hirofumi Tanaka
BACKGROUND: Individuals with metabolic syndrome (MetS) exhibit reduced cerebral blood flow. The mechanisms of this reduction remain unknown but arterial stiffening has been implicated as a contributor. We determined if MetS was associated with reduced cerebral blood flow at midlife, and if so, whether arterial stiffness was responsible for mediating their relation. METHODS: Middle-aged (40-60 years) community dwelling adults (n = 83) were studied. MetS score was calculated for each subject...
July 31, 2017: American Journal of Hypertension
https://www.readbyqxmd.com/read/28988457/re-evaluating-pathogenicity-of-variants-associated-with-the-long-qt-syndrome
#9
Jonathan R Kaltman, Frank Evans, Yi-Ping Fu
INTRODUCTION: Genetic testing for congenital long-QT syndrome (LQTS) has become common. Recent studies have shown that some variants labelled as pathogenic might be misclassified due to sparse case reports and relatively common allele frequencies in the general population. This study aims to evaluate the presence of LQTS-associated variants in the Genome Aggregation Database (gnomAD) population, and assess the functional impact of these variants. METHODS AND RESULTS: Variants associated with LQTS from the Human Gene Mutation Database were extracted and matched to the gnomAD to evaluate population-based allele frequencies (AF)...
October 8, 2017: Journal of Cardiovascular Electrophysiology
https://www.readbyqxmd.com/read/28950403/challenges-in-non-invasive-prenatal-screening-for-sub-chromosomal-copy-number-variations-using-cell-free-dna
#10
REVIEW
Henna V Advani, Angela N Barrett, Mark I Evans, Mahesh Choolani
Non-invasive prenatal screening (NIPS) has revolutionized the approach to prenatal fetal aneuploidy screening. Many commercial providers now offer analyses for sub-chromosomal copy number variations (CNVs). Here, we review the use of NIPS in the context of screening for microdeletions and microduplications, issues surrounding the choice of disorders tested for, and the advantages and disadvantages associated with the inclusion of microdeletions to current NIPS. Several studies have claimed benefits; however, we suggest that microdeletions have not demonstrated a low enough false positive rate to be deemed practical or ethically acceptable, especially considering their low positive predictive values...
September 26, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28947947/discovery-of-cdz173-leniolisib-representing-a-structurally-novel-class-of-pi3k-delta-selective-inhibitors
#11
Klemens Hoegenauer, Nicolas Soldermann, Frédéric Zécri, Ross S Strang, Nadege Graveleau, Romain M Wolf, Nigel G Cooke, Alexander B Smith, Gregory J Hollingworth, Joachim Blanz, Sascha Gutmann, Gabriele Rummel, Amanda Littlewood-Evans, Christoph Burkhart
The predominant expression of phosphoinositide 3-kinase δ (PI3Kδ) in leukocytes and its critical role in B and T cell functions led to the hypothesis that selective inhibitors of this isoform would have potential as therapeutics for the treatment of allergic and inflammatory disease. Targeting specifically PI3Kδ should avoid potential side effects associated with the ubiquitously expressed PI3Kα and β isoforms. We disclose how morphing the heterocyclic core of previously discovered 4,6-diaryl quinazolines to a significantly less lipophilic 5,6,7,8-tetrahydropyrido[4,3-d]pyrimidine, followed by replacement of one of the phenyl groups with a pyrrolidine-3-amine, led to a compound series with an optimal on-target profile and good ADME properties...
September 14, 2017: ACS Medicinal Chemistry Letters
https://www.readbyqxmd.com/read/28944831/vitamin-d-alleviates-lipopolysaccharide%C3%A2-induced-acute-lung-injury-via-regulation-of-the-renin%C3%A2-angiotensin-system
#12
Jun Xu, Jialai Yang, Jian Chen, Qingli Luo, Qiu Zhang, Hong Zhang
Acute lung injury (ALI) and acute respiratory distress syndrome (ARDS) are the clinical manifestations of severe lung damage and respiratory failure. ALI and ARDS result are associated with high mortality in patients. At present, no effective treatments for ALI and ARDS exist. It is established that vitamin D exhibits anti‑inflammatory effects, however, the specific effect of vitamin D on ALI remains largely unknown. The aim of the present study was to investigate whether, and by which mechanism, vitamin D alleviates lipopolysaccharide (LPS)‑induced ALI...
November 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28937520/evans-syndrome-as-first-manifestation-of-primary-immunodeficiency-in-clinical-practice
#13
Libny Martínez-Valdez, Angela Deyà-Martínez, María T Giner, Rubén Berrueco, Ana Esteve-Solé, Manel Juan, Ana M Plaza-Martín, Laia Alsina
BACKGROUND: Evans syndrome (ES) is a rare immune disorder in children, manifested by simultaneous or sequential autoimmune cytopenias (ACs) of unknown cause and having a chronic course with periods of exacerbation and remission. Some primary immunodeficiencies (PIDs) may present with autoimmune manifestations without infections, masking suspicion of them. The PIDs that can typically manifest as ES are autoimmune lymphoproliferative syndrome and common variable immunodeficiency (CVID)...
October 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28930962/attenuation-of-hemorrhage-associated-lung-injury-by-adjuvant-treatment-with-c23-an-oligopeptide-derived-from-cold-inducible-rna-binding-protein
#14
Fangming Zhang, Weng-Lang Yang, Max Brenner, Ping Wang
BACKGROUND: Hemorrhagic shock (HS) is an important cause of mortality. HS is associated with an elevated incidence of acute lung injury and acute respiratory distress syndrome, significantly contributing to HS morbidity and mortality. Cold-inducible RNA-binding protein (CIRP) is released into the circulation during HS and can cause lung injury. C23 is a CIRP-derived oligopeptide that binds with high affinity to the CIRP receptor and inhibits CIRP-induced phagocyte secretion of TNF-α...
October 2017: Journal of Trauma and Acute Care Surgery
https://www.readbyqxmd.com/read/28925590/analytic-methods-for-evaluating-patterns-of-multiple-congenital-anomalies-in-birth-defect-registries
#15
REVIEW
A J Agopian, Jane A Evans, Philip J Lupo
BACKGROUND: It is estimated that 20 to 30% of infants with birth defects have two or more birth defects. Among these infants with multiple congenital anomalies (MCA), co-occurring anomalies may represent either chance (i.e., unrelated etiologies) or pathogenically associated patterns of anomalies. While some MCA patterns have been recognized and described (e.g., known syndromes), others have not been identified or characterized. Elucidating these patterns may result in a better understanding of the etiologies of these MCAs...
September 19, 2017: Birth defects research
https://www.readbyqxmd.com/read/28918841/epidural-abscess-in-lemierre-s-syndrome
#16
Christina M Meade, Valeria D Cantos, Hachem Nasri, Mara Serbanescu, Evan J Anderson
No abstract text is available yet for this article.
September 2017: American Journal of the Medical Sciences
https://www.readbyqxmd.com/read/28918392/cnvs-affecting-cancer-predisposing-genes-cpgs-detected-as-incidental-findings-in-routine-germline-diagnostic-chromosomal-microarray-cma-testing
#17
Josie Innes, Lisa Reali, Jill Clayton-Smith, Georgina Hall, Derek Hk Lim, George J Burghel, Kim French, Unzela Khan, Daniel Walker, Fiona Lalloo, D Gareth R Evans, Dominic McMullan, Eamonn R Maher, Emma R Woodward
BACKGROUND: Identification of CNVs through chromosomal microarray (CMA) testing is the first-line investigation in individuals with learning difficulties/congenital abnormalities. Although recognised that CMA testing may identify CNVs encompassing a cancer predisposition gene (CPG), limited information is available on the frequency and nature of such results. METHODS: We investigated CNV gains and losses affecting 39 CPGs in 3366 pilot index case individuals undergoing CMA testing, and then studied an extended cohort (n=10 454) for CNV losses at 105 CPGs and CNV gains at 9 proto-oncogenes implicated in inherited cancer susceptibility...
September 16, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28916678/gucy2c-signaling-opposes-the-acute-radiation-induced-gi-syndrome
#18
Peng Li, Evan Wuthrick, Jeff A Rappaport, Crystal Kraft, Jieru E Lin, Glen Marszalowicz, Adam E Snook, Tingting Zhan, Terry M Hyslop, Scott A Waldman
High doses of ionizing radiation induce acute damage to epithelial cells of the gastrointestinal (GI) tract, mediating toxicities restricting the therapeutic efficacy of radiation in cancer and morbidity and mortality in nuclear disasters. No approved prophylaxis or therapy exists for these toxicities, in part reflecting an incomplete understanding of mechanisms contributing to the acute radiation-induced GI syndrome (RIGS). Guanylate cyclase C (GUCY2C) and its hormones guanylin and uroguanylin have recently emerged as one paracrine axis defending intestinal mucosal integrity against mutational, chemical, and inflammatory injury...
September 15, 2017: Cancer Research
https://www.readbyqxmd.com/read/28904807/the-return-of-a-former-foe-syphilis-with-antiphospholipid-syndrome-as-a-cause-of-acute-stroke
#19
Daniela Noakes, Katherine Evans, Rohan Pathansali
This article highlights a rare complication of syphilis infection and the importance of including syphilis and antiphospholipid antibody testing in the acute stroke screen..
September 2017: JRSM Open
https://www.readbyqxmd.com/read/28892549/pediatric-obstructive-sleep-apnea-in-high-risk-populations-clinical-implications
#20
Mai El Mallah, Evan Bailey, Michelle Trivedi, Ted Kremer, Lawrence M Rhein
Certain common medical conditions are associated with a higher risk of pediatric obstructive sleep apnea (OSA). A lower threshold for screening is therefore indicated for such patient cohorts. In this article, we briefly discuss the high prevalence of OSA in children born prematurely, and in those with Down syndrome, craniofacial disorders, and neuromuscular disorders. Primary care providers should have an increased index of suspicion for OSA in these children, considering the neurocognitive disability that occurs in these high-risk groups when OSA is left untreated...
September 1, 2017: Pediatric Annals
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