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Gordon syndrome

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https://www.readbyqxmd.com/read/29773600/the-interleukin-3-receptor-cd123-targeted-sl-401-mediates-potent-cytotoxic-activity-against-cd34-cd123-cells-from-acute-myeloid-leukemia-myelodysplastic-syndrome-patients-and-healthy-donors
#1
Rajeswaran Mani, Swagata Goswami, Bhavani Gopalakrishnan, Rahul Ramaswamy, Ronni Wasmuth, Minh Tranh, Xiaokui Mo, Amber Gordon, Donna Bucci, David M Lucas, Alice Mims, Christopher Brooks, Adrienne Dorrance, Alison Walker, William Blum, John C Byrd, Gerard Lozanski, Sumithira Vasu, Natarajan Muthusamy
Diseases with clonal hematopoiesis such as myelodysplastic syndrome and acute myeloid leukemia have high rates of relapse. Only a small subset of acute myeloid leukemia patients are cured with chemotherapy alone. Relapse in these diseases occurs at least in part due to the failure to eradicate leukemic stem cells or hematopoietic stem cells in myelodysplastic syndrome. CD123, the alpha chain of the interleukin-3 receptor heterodimer, is expressed on the majority of leukemic stem cells and myelodysplastic syndrome hematopoietic stem cells and in 80% of acute myeloid leukemia...
May 17, 2018: Haematologica
https://www.readbyqxmd.com/read/29762087/genomics-and-epigenomics-of-congenital-heart-defects-expert-review-and-lessons-learned-in-africa
#2
Nicholas Ekow Thomford, Kevin Dzobo, Nana Akyaa Yao, Emile Chimusa, Jonathan Evans, Emmanuel Okai, Paul Kruszka, Maximilian Muenke, Gordon Awandare, Ambroise Wonkam, Collet Dandara
Congenital heart defects (CHD) are structural malformations found at birth with a prevalence of 1%. The clinical trajectory of CHD is highly variable and thus in need of robust diagnostics and therapeutics. Major surgical interventions are often required for most CHDs. In Africa, despite advances in life sciences infrastructure and improving education of medical scholars, the limited clinical data suggest that CHD detection and correction are still not at par with the rest of the world. But the toll and genetics of CHDs in Africa has seldom been systematically investigated...
May 2018: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/29758282/stevens-johnson-syndrome-toxic-epidermal-necrolysis-a-multicenter-retrospective-study-of-377-adult-patients-from-the-united-states
#3
Robert G Micheletti, Zelma Chiesa-Fuxench, Megan H Noe, Sasha Stephen, Maria Aleshin, Ashwin Agarwal, Jennifer Boggs, Adela R Cardones, Jennifer K Chen, Jonathan Cotliar, Mark Dp Davis, Arturo Dominguez, Lindy P Fox, Shayna Gordon, Ronald Hamrick, Baran Ho, Lauren C Hughey, Larry M Jones, Benjamin H Kaffenberger, Kimball Kindley, Daniela Kroshinsky, Bernice Y Kwong, Daniel D Miller, Arash Mostaghimi, Amy Musiek, Alex G Ortega-Loayza, Raj Patel, Alba Posligua, Monica Rani, Sandeep Saluja, Victoria R Sharon, Kanade Shinkai, Jessica St John, Nicole Strickland, Erika M Summers, Natalie Sun, Karolyn A Wanat, David A Wetter, Scott Worswick, Caroline Yang, David J Margolis, Joel M Gelfand, Misha Rosenbach
Stevens-Johnson syndrome / toxic epidermal necrolysis (SJS/TEN) is a rare, severe mucocutaneous reaction with few large cohorts reported. This multicenter retrospective study included patients with SJS/TEN seen by inpatient consultative dermatologists at 18 academic medical centers in the United States. 377 adult patients with SJS/TEN between 1/1/2000 and 6/1/2015 were entered, including 69.0% from 2010 onward. The most frequent cause of SJS/TEN was medication reaction (89.7%), most often trimethoprim / sulfamethoxazole (27...
May 11, 2018: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29713386/hookah-smoking-is-strongly-associated-with-diabetes-mellitus-metabolic-syndrome-and-obesity-a-population-based-study
#5
Sara Saffar Soflaei, Susan Darroudi, Maryam Tayefi, Abolfazl Nosrati Tirkani, Mohsen Moohebati, Mahmoud Ebrahimi, Habibollah Esmaily, Seyed Mohammad Reza Parizadeh, Ali Reza Heidari-Bakavoli, Gordon A Ferns, Majid Ghayour-Mobarhan
Objectives: The adverse effects of cigarette smoking have been widely studied before, whilst the effects of hookah smoking has received less attention, although it is a common habit in the Middle East. Here we have investigated the effects of cigarette and hookah smoking on biochemical characteristics in a representative population sample derived from the Mashhad stroke and heart atherosclerotic disorder (MASHAD) cohort study, from Northeastern Iran. Study design: A total of 9840 subjects from the MASHAD population study were allocated to five groups; non-smokers (6742), ex-smokers (976), cigarette smokers (864), hookah smokers (1067), concomitant cigarette and hookah smokers (41)...
2018: Diabetology & Metabolic Syndrome
https://www.readbyqxmd.com/read/29710166/association-of-lonafarnib-treatment-vs-no-treatment-with-mortality-rate-in-patients-with-hutchinson-gilford-progeria-syndrome
#6
COMPARATIVE STUDY
Leslie B Gordon, Heather Shappell, Joe Massaro, Ralph B D'Agostino, Joan Brazier, Susan E Campbell, Monica E Kleinman, Mark W Kieran
Importance: Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare fatal premature aging disease. There is no approved treatment. Objective: To evaluate the association of monotherapy using the protein farnesyltransferase inhibitor lonafarnib with mortality rate in children with HGPS. Design, Setting, and Participants: Cohort study comparing contemporaneous (birth date ≥1991) untreated patients with HGPS matched with treated patients by age, sex, and continent of residency using conditional Cox proportional hazards regression...
April 24, 2018: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/29697211/molecular-profiling-and-clonal-tracking-of-secreted-rheumatoid-factors-in-primary-sj%C3%A3-gren-s-syndrome
#7
Jing J Wang, Joanne H Reed, Alex D Colella, Amanda J Russell, William Murray-Brown, Tim K Chataway, Katherine J L Jackson, Christopher C Goodnow, Tom P Gordon
OBJECTIVE: Rheumatoid factors (RFs) are associated with systemic disease in primary Sjögren's syndrome (SS) and may be pathogenic as mixed cryoglobulins. Current detection methods cannot resolve RFs at a molecular level. Here, we perform the first proteomic and transcriptomic analysis of secreted and membrane-bound RF IgM in primary SS and identify unique heavy (H)-chain peptide signatures for RF clonotype tracking. METHODS: Purified H-chains of serum RFs (IgH-RF) from 15 primary SS patients were subjected to de novo mass spectrometric sequencing...
April 26, 2018: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/29681099/2016-children-s-tumor-foundation-conference-on-neurofibromatosis-type-1-neurofibromatosis-type-2-and-schwannomatosis
#8
Michael J Fisher, Allan J Belzberg, Peter de Blank, Thomas De Raedt, Florent Elefteriou, Rosalie E Ferner, Marco Giovannini, Gordon J Harris, Michel Kalamarides, Matthias A Karajannis, AeRang Kim, Conxi Lázaro, Lu Q Le, Wei Li, Robert Listernick, Staci Martin, Helen Morrison, Eric Pasmant, Nancy Ratner, Elisabeth Schorry, Nicole J Ullrich, David Viskochil, Brian Weiss, Brigitte C Widemann, Yuan Zhu, Annette Bakker, Eduard Serra
Organized and hosted by the Children's Tumor Foundation (CTF), the Neurofibromatosis (NF) conference is the premier annual gathering for clinicians and researchers interested in neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis (SWN). The 2016 edition constituted a blend of clinical and basic aspects of NF research that helped in clarifying different advances in the field. The incorporation of next generation sequencing is changing the way genetic diagnostics is performed for NF and related disorders, providing solutions to problems like genetic heterogeneity, overlapping clinical manifestations, or the presence of mosaicism...
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29681083/novel-de-novo-zbtb20-mutations-in-three-cases-with-primrose-syndrome-and-constant-corpus-callosum-anomalies
#9
Caroline Alby, Lucile Boutaud, Bettina Bessières, Valérie Serre, Marlene Rio, Valerie Cormier-Daire, Judith de Oliveira, Amale Ichkou, Linda Mouthon, Christopher T Gordon, Maryse Bonnière, Charlotte Mechler, Patrick Nitschke, Christine Bole, Stanislas Lyonnet, Nadia Bahi-Buisson, Nathalie Boddaert, Laurence Colleaux, Philippe Roth, Yves Ville, Michel Vekemans, Féréchté Encha-Razavi, Tania Attié-Bitach, Sophie Thomas
Corpus callosum (CC) is the major brain commissure connecting homologous areas of cerebral hemispheres. CC anomalies (CCAs) are the most frequent brain anomalies leading to variable neurodevelopmental outcomes making genetic counseling difficult in the absence of a known etiology that might inform the prognosis. Here, we used whole exome sequencing, and a targeted capture panel of syndromic CCA known causal and candidate genes to screen a cohort of 64 fetuses with CCA observed upon autopsy, and 34 children with CCA and intellectual disability...
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29679845/establishment-of-stub1-chip-mutant-induced-pluripotent-stem-cells-ipscs-from-a-patient-with-gordon-holmes-syndrome-scar16
#10
Stefanie Schuster, Yvonne Schelling, Matthis Synofzik, Philip Höflinger, Ludger Schöls, Stefan Hauser
STUB1/CHIP is a central component of cellular protein homeostasis and interacts with key proteins involved in the pathogenesis of many neurodegenerative diseases. Here, we reprogrammed human skin fibroblasts from a 12-year-old male patient with recessive spinocerebellar ataxia type 16 (OMIM #615768), carrying compound heterozygous mutations (c.355C>T, c.880A>T) in STUB1. Genomic integrity of the iPSC line HIHCNi001-A without transgene integration and genomic aberration but with maintained disease-relevant mutations was proven by SNP array analysis and Sanger sequencing while pluripotency was verified by the expression of important pluripotency markers and the capacity to differentiate into cells of all three germ layers...
April 9, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29669930/tsc2-deficient-tumors-have-evidence-of-t-cell-exhaustion-and-respond-to-anti-pd-1-anti-ctla-4-immunotherapy
#11
Heng-Jia Liu, Patrick H Lizotte, Heng Du, Maria C Speranza, Hilaire C Lam, Spencer Vaughan, Nicola Alesi, Kwok-Kin Wong, Gordon J Freeman, Arlene H Sharpe, Elizabeth P Henske
Tuberous sclerosis complex (TSC) is an incurable multisystem disease characterized by mTORC1-hyperactive tumors. TSC1/2 mutations also occur in other neoplastic disorders, including lymphangioleiomyomatosis (LAM) and bladder cancer. Whether TSC-associated tumors will respond to immunotherapy is unknown. We report here that the programmed death 1 coinhibitory receptor (PD-1) is upregulated on T cells in renal angiomyolipomas (AML) and pulmonary lymphangioleiomyomatosis (LAM). In C57BL/6J mice injected with syngeneic TSC2-deficient cells, anti-PD-1 alone decreased 105K tumor growth by 67% (P < 0...
April 19, 2018: JCI Insight
https://www.readbyqxmd.com/read/29662470/basis-of-virulence-in-enterotoxin-mediated-staphylococcal-food-poisoning
#12
REVIEW
Emilie L Fisher, Michael Otto, Gordon Y C Cheung
The Staphylococcus aureus enterotoxins are a superfamily of secreted virulence factors that share structural and functional similarities and possess potent superantigenic activity causing disruptions in adaptive immunity. The enterotoxins can be separated into two groups; the classical (SEA-SEE) and the newer (SEG-SE l Y and counting) enterotoxin groups. Many members from both these groups contribute to the pathogenesis of several serious human diseases, including toxic shock syndrome, pneumonia, and sepsis-related infections...
2018: Frontiers in Microbiology
https://www.readbyqxmd.com/read/29658144/bone-fragility-in-turner-syndrome-fracture-prevalence-and-risk-factors-determined-by-a-national-patient-survey
#13
Halley Wasserman, Philippe F Backeljauw, Jane C Khoury, Heidi J Kalkwarf, Catherine M Gordon
OBJECTIVE: Osteoporosis is considered a comorbidity of adult women with Turner Syndrome (TS). Limited data are available on fracture prevalence in girls and women with this diagnosis. We aimed to determine the prevalence of fractures in individuals with TS in the United States and identify risk factors for fracture. DESIGN: Girls and women with TS were invited to participate in an anonymous, self-report, national survey from November 2016 to March 2017. Non-TS controls were obtained through direct contacts of TS participants...
April 15, 2018: Clinical Endocrinology
https://www.readbyqxmd.com/read/29614138/common-and-not-so-common-comorbidities-of-psoriasis
#14
M Alan Menter, April W Armstrong, Kenneth B Gordon, Jashin J Wu
Plaque psoriasis is increasingly recognized as a multisystemic disease whose most common comorbidities include psoriatic arthritis, cardiovascular disease, metabolic syndrome, overweight/obesity, inflammatory bowel disease, and depression. The presence of such comorbidities affects the therapeutic choices for clinicians. Patients often visit dermatologists more frequently than they do other clinicians, so it is incumbent upon dermatologists to recognize and address early signs of psoriatic comorbidities to prevent further deterioration and improve their patients' quality of life...
February 2018: Seminars in Cutaneous Medicine and Surgery
https://www.readbyqxmd.com/read/29605372/emberger-syndrome-a-rare-association-with-hearing-loss
#15
Faisal Zawawi, Meirav Sokolov, Thomas Mawby, Karen A Gordon, Blake C Papsin, Sharon L Cushing
Emberger Syndrome (ES) is a rare genetic disorder characterized by lymphedema and myelodysplasia. It is also associated with hearing loss. The genetic mutations associated with ES are not part of the comprehensive 80 gene next generation sequencing (NGS) panel. As a result, the otolaryngologist should maintain an index of suspicion for ES in any child with SNHL who presents repeatedly with recurrent infections, lymphedema and/or cutaneous warts. This paper describes the clinical evolution and management of two children who were followed up for hearing loss and eventually were diagnosed with ES...
May 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29581305/everolimus-rescues-multiple-cellular-defects-in-laminopathy-patient-fibroblasts
#16
Amanda J DuBose, Stephen T Lichtenstein, Noreen M Petrash, Michael R Erdos, Leslie B Gordon, Francis S Collins
LMNA encodes the A-type lamins that are part of the nuclear scaffold. Mutations in LMNA can cause a variety of disorders called laminopathies, including Hutchinson-Gilford progeria syndrome (HGPS), atypical Werner syndrome, and Emery-Dreifuss muscular dystrophy. Previous work has shown that treatment of HGPS cells with the mTOR inhibitor rapamycin or with the rapamycin analog everolimus corrects several of the phenotypes seen at the cellular level-at least in part by increasing autophagy and reducing the amount of progerin, the toxic form of lamin A that is overproduced in HGPS patients...
March 26, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29565178/depression-and-poor-outcome-after-an-acute-coronary-event-clarification-of-risk-periods-and-mechanisms
#17
Gordon B Parker, Erin Cvejic, Ute Vollmer-Conna, Stacey McCraw, Isabelle Granville Smith, Warren F Walsh
OBJECTIVE: Lifetime depression and depression around the time of an acute coronary syndrome event have been associated with poor cardiac outcomes. Our study sought to examine the persistence of this association, especially given modern cardiac medicine's successes. METHODS: For 332 patients admitted for an acute coronary syndrome, a baseline interview assessed major depression status, and psychological measures were administered. At 1 and 12 months post-acute coronary syndrome event, telephone interviews collected rates of hospital readmission and/or death and major depression status, while biomarker information was examined using medical records...
March 1, 2018: Australian and New Zealand Journal of Psychiatry
https://www.readbyqxmd.com/read/29560810/menstrual-disorders-and-premenstrual-symptoms-in-adolescents-prevalence-and-relationship-to-serum-calcium-and-vitamin-d-concentrations
#18
Afsane Bahrami, Hamidreza Bahrami-Taghanaki, Mozhgan Afkhamizadeh, Amir Avan, Zahra Mazloum Khorasani, Habibollah Esmaeili, Bahareh Amin, Samine Jazebi, Delaram Kamali, Gordon A Ferns, Hamid Reza Sadeghnia, Majid Ghayour-Mobarhan
There have been several studies evaluating the association between vitamin and mineral status and menstrual disturbance. In the present study, we aimed to assess the relationship between the menstrual bleeding pattern and premenstrual syndrome (PMS) symptoms with serum 25-hydroxyvitamin D, and calcium levels in adolescent girls. A cross-sectional study was carried out in 897 high school girls from northeastern Iran. The prevalence of hypocalcaemia, normal serum calcium and hypercalcaemia was 27.1, 59.8 and 13...
March 21, 2018: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29558524/survival-of-viral-pathogens-in-animal-feed-ingredients-under-transboundary-shipping-models
#19
Scott A Dee, Fernando V Bauermann, Megan C Niederwerder, Aaron Singrey, Travis Clement, Marcelo de Lima, Craig Long, Gilbert Patterson, Maureen A Sheahan, Ana M M Stoian, Vlad Petrovan, Cassandra K Jones, Jon De Jong, Ju Ji, Gordon D Spronk, Luke Minion, Jane Christopher-Hennings, Jeff J Zimmerman, Raymond R R Rowland, Eric Nelson, Paul Sundberg, Diego G Diel
The goal of this study was to evaluate survival of important viral pathogens of livestock in animal feed ingredients imported daily into the United States under simulated transboundary conditions. Eleven viruses were selected based on global significance and impact to the livestock industry, including Foot and Mouth Disease Virus (FMDV), Classical Swine Fever Virus (CSFV), African Swine Fever Virus (ASFV), Influenza A Virus of Swine (IAV-S), Pseudorabies virus (PRV), Nipah Virus (NiV), Porcine Reproductive and Respiratory Syndrome Virus (PRRSV), Swine Vesicular Disease Virus (SVDV), Vesicular Stomatitis Virus (VSV), Porcine Circovirus Type 2 (PCV2) and Vesicular Exanthema of Swine Virus (VESV)...
2018: PloS One
https://www.readbyqxmd.com/read/29542345/epratuzumab-for-the-treatment-of-systemic-lupus-erythematosus
#20
Daniel Geh, Caroline Gordon
Systemic lupus erythematosus (SLE) is a multi-system autoimmune disease. There are three drugs licensed for the treatment of lupus: corticosteroids, hydroxychloroquine and belimumab. Immunosuppressants such as azathioprine, methotrexate and mycophenolate are also used. Despite these treatments there is still considerable morbidity. New treatments are needed for the management of active lupus. Epratuzumab a humanized IgG1 monoclonal antibody that targets CD22 resulting in selective B cell modulation that has been considered a potential treatment for SLE...
April 2018: Expert Review of Clinical Immunology
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