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Edward Syndrome

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https://www.readbyqxmd.com/read/29038234/patient-reported-symptom-control-of-diarrhea-and-flushing-in-patients-with-neuroendocrine-tumors-treated-with-lanreotide-depot-autogel-results-from-a-randomized-placebo-controlled-double-blind-and-32-week-open-label-study
#1
George A Fisher, Edward M Wolin, Nilani Liyanage, Susan Pitman Lowenthal, Beloo Mirakhur, Rodney F Pommier, Montaser Shaheen, Aaron Vinik
BACKGROUND: In the double-blind (DB) ELECT study, lanreotide depot/autogel significantly reduced versus placebo the need for short-acting octreotide for symptomatic carcinoid syndrome (CS) control in neuroendocrine tumor (NET) patients. Here we present patient-reported symptom data during DB and initial open-label (IOL) treatment. MATERIALS AND METHODS: Adults with NETs and CS history, with/without prior somatostatin analog use, were randomized to 16 weeks' DB lanreotide 120 mg subcutaneous or placebo every 4 weeks, followed by 32 weeks' IOL lanreotide...
October 16, 2017: Oncologist
https://www.readbyqxmd.com/read/29033740/child-with-edward-s-syndrome-for-radiological-procedure-an-anesthetic-challenge
#2
Gaurav Singh Tomar, Shailendra Kumar, Keshav Goyal, Arvind Chaturvedi
No abstract text is available yet for this article.
October 2017: Saudi Journal of Anaesthesia
https://www.readbyqxmd.com/read/29033382/clinical-pathological-correlations-in-three-patients-with-fibrodysplasia-ossificans-progressiva
#3
Kelly L Wentworth, Katherine Bigay, Tea V Chan, Jennifer P Ho, Blanca M Morales, Joseph Connor, Erin Brooks, M Shahriar Salamat, Henry Charles Sanchez, Geoffrey Wool, Robert J Pignolo, Frederick S Kaplan, Edward C Hsiao
OBJECTIVE: Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic disorder in which heterotopic bone forms in the soft tissues. This often occurs in response to injury or inflammation, leading to joint immobilization and significant disability. There are currently no definitive treatment options for this devastating disease. Although the most dramatic phenotype in FOP is the episodic and progressive heterotopic ossification, patients report a number of symptoms that affect other organ systems...
October 12, 2017: Bone
https://www.readbyqxmd.com/read/28981940/-prenatal-genetic-analysis-of-a-fetus-with-wolf-hirschhorn-syndrome-and-edward-syndrome
#4
Xueping Shen, Pingya He, Rong Fang, Juan Yao, Wenwen Li
OBJECTIVE: To screen for genomic copy number variants (CNVs) in a fetus with cardiac abnormalities and intrauterine growth retardation through single nucleotide polymorphism microarray (SNP array) and karyotyping analysis. METHODS: The fetus and its parents were subjected to conventional G banding and SNP-array analysis. The results were confirmed with fluorescence in situ hybridization (FISH). RESULTS: G-banding analysis showed that the fetus has a karyotype of 47,XX,+mar...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28977587/outward-open-model-of-thyroid-hormone-transporter-monocarboxylate-transporter-8-provides-novel-structural-and-functional-insights
#5
Stefan Groeneweg, Elaine C Lima de Souza, Marcel E Meima, Robin P Peeters, W Edward Visser, Theo J Visser
Monocarboxylate transporter 8 (MCT8) facilitates cellular uptake and efflux of thyroid hormone (TH). Mutations in MCT8 result in severe intellectual and motor disability known as the Allan-Herndon-Dudley syndrome (AHDS). Previous studies have provided valuable insights into the putative mechanism of substrate binding in the inward-open conformation, required for TH efflux. The current study aims to delineate the mechanism of substrate binding in the outward-open conformation, required for TH uptake. Extensive chemical modification and site-directed mutagenesis studies were used to guide protein homology modeling of MCT8 in the outward-open conformation...
October 1, 2017: Endocrinology
https://www.readbyqxmd.com/read/28974138/cardiovascular-risk-of-adipokines-a-review
#6
Frédéric Dutheil, Brett Ashley Gordon, Geraldine Naughton, Edward Crendal, Daniel Courteix, Elodie Chaplais, David Thivel, Gérard Lac, Amanda Clare Benson
Over the last two decades, the understanding of adipose tissue has undergone radical change. The perception has evolved from an inert energy storage tissue to that of an active endocrine organ. Adipose tissue releases a cluster of active molecules named adipokines. The severity of obesity-related diseases does not necessarily correlate with the extent of body fat accumulation but is closely related to body fat distribution, particularly to visceral localization. There is a distinction between the metabolic function of central obesity (visceral abdominal) and peripheral obesity (subcutaneous) in the production of adipokines...
January 1, 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/28965454/risk-factors-associated-with-short-term-complications-and-mortality-after-pediatric-spinal-arthrodesis
#7
Nancy Abu-Bonsrah, C Rory Goodwin, Gezzer Ortega, Fizan Abdullah, Edward Cornwell, Rafael De la Garza-Ramos, Mari L Groves, Michael Ain, Paul D Sponseller, Daniel M Sciubba
OBJECTIVE Spinal arthrodesis is routinely performed in the pediatric population. However, there is limited information on the short-term outcomes of pediatric patients who have undergone spine fusion. Thus, the authors conducted a retrospective review of the Pediatric National Surgical Quality Improvement Program (NSQIP) database to determine the short-term mortality, complication, reoperation, and readmission rates of pediatric patients who underwent spinal arthrodesis for all indications. METHODS The Pediatric NSQIP database was queried for all patients who underwent spinal arthrodesis between 2012 and 2014...
October 2017: Neurosurgical Focus
https://www.readbyqxmd.com/read/28965318/the-drd2-taq1a-a1-allele-may-magnify-the-risk-of-alzheimer-s-in-aging-african-americans
#8
REVIEW
Kenneth Blum, Rajendra D Badgaiyan, Georgia M Dunston, David Baron, Edward J Modestino, Thomas McLaughlin, Bruce Steinberg, Mark S Gold, Marjorie C Gondré-Lewis
Alzheimer's disease is an irreversible, progressive brain disorder that slowly destroys cognitive skills and the ability to perform the simplest tasks. More than 5 million Americans are afflicted with Alzheimer's; a disorder which ranks third, just behind heart disease and cancer, as a cause of death for older people. With no real cure and in spite of enormous efforts worldwide, the disease remains a mystery in terms of treatment. Importantly, African-Americans are two times as likely as Whites to develop late-onset Alzheimer's disease and less likely to receive timely diagnosis and treatment...
September 30, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28958646/the-split-brain-phenomenon-revisited-a-single-conscious-agent-with-split-perception
#9
REVIEW
Yair Pinto, Edward H F de Haan, Victor A F Lamme
The split-brain phenomenon is caused by the surgical severing of the corpus callosum, the main route of communication between the cerebral hemispheres. The classical view of this syndrome asserts that conscious unity is abolished. The left hemisphere consciously experiences and functions independently of the right hemisphere. This view is a cornerstone of current consciousness research. In this review, we first discuss the evidence for the classical view. We then propose an alternative, the 'conscious unity, split perception' model...
September 25, 2017: Trends in Cognitive Sciences
https://www.readbyqxmd.com/read/28950859/protocol-for-a-multi-centre-randomised-controlled-trial-comparing-arthroscopic-hip-surgery-to-physiotherapy-led-care-for-femoroacetabular-impingement-fai-the-australian-fashion-trial
#10
Nicholas J Murphy, Jillian Eyles, Kim L Bennell, Megan Bohensky, Alexander Burns, Fraser M Callaghan, Edward Dickenson, Camdon Fary, Stuart M Grieve, Damian R Griffin, Michelle Hall, Rachel Hobson, Young Jo Kim, James M Linklater, David G Lloyd, Robert Molnar, Rachel L O'Connell, John O'Donnell, Michael O'Sullivan, Sunny Randhawa, Stephan Reichenbach, David J Saxby, Parminder Singh, Libby Spiers, Phong Tran, Tim V Wrigley, David J Hunter
BACKGROUND: Femoroacetabular impingement syndrome (FAI), a hip disorder affecting active young adults, is believed to be a leading cause of hip osteoarthritis (OA). Current management approaches for FAI include arthroscopic hip surgery and physiotherapy-led non-surgical care; however, there is a paucity of clinical trial evidence comparing these approaches. In particular, it is unknown whether these management approaches modify the future risk of developing hip OA. The primary objective of this randomised controlled trial is to determine if participants with FAI who undergo hip arthroscopy have greater improvements in hip cartilage health, as demonstrated by changes in delayed gadolinium-enhanced magnetic resonance imaging (MRI) of cartilage (dGEMRIC) index between baseline and 12 months, compared to those who undergo physiotherapy-led non-surgical management...
September 26, 2017: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/28950075/recent-advances-in-hematopoietic-cell-transplantation-in-myelodysplastic-syndrome
#11
Edward A Copelan, Michael R Grunwald, Srinivasa R Sanikommu, Mohammad J Hussain, Belinda Avalos
Myelodysplastic syndrome (MDS) is a heterogeneous group of malignant disorders of blood cell production occurring predominantly in elderly patients. While low intensity treatments are appropriate initially in most patients with favorable prognoses, hematopoietic cell transplantation (HCT) is the only curative therapy and is the best therapy for many higher risk patients. In patients who present with lower-risk disease, HCT may be considered at the time of meaningful disease progression. In patients receiving hypomethylating treatment, outcome of HCT is best when performed during response, and HCT is less effective when performed after resistance occurs...
August 2017: Discovery Medicine
https://www.readbyqxmd.com/read/28946565/alzheimer-s-disease-as-the-product-of-a-progressive-energy-deficiency-syndrome-in-the-central-nervous-system-the-neuroenergetic-hypothesis
#12
Edward R Blonz
The decreased availability of metabolizable energy resources in the central nervous system is hypothesized to be a key factor in the pathogenesis of Alzheimer's disease. More specifically, the age-related decline in the ability of glucose to cross the blood-brain barrier creates a metabolic stress that shifts the normal, benign processing of amyloid-β protein precursor toward pathways associated with the production of amyloid-β plaques and tau-containing neurofibrillary tangles that are characteristic of the disease...
September 19, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28945662/incidence-and-outcome-of-pericardial-effusion-in-pediatric-patients-after-hematopoietic-stem-cell-transplant-a-single-institution-experience
#13
Melissa Diamond, Catalina Ruiz-Mesa, Fernando F Corrales-Medina, Leonardo J Tamariz, Edward Ziga, Sethuraman Swaminathan
BACKGROUND: Pericardial effusion (PE) is a known complication after hematopoietic stem cell transplant (HSCT). Limited data is currently available regarding the incidence and outcomes of PE in pediatric HSCT. METHODS: We conducted a retrospective study on a cohort of patients who underwent HSCT between 2004 and 2015. Risk factors associated with development of PE were evaluated. RESULTS: In 111 HSCT, stem cell source was bone marrow in 37 (33...
September 22, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28944163/weathering-the-storm-improving-therapeutic-interventions-for-cytokine-storm-syndromes-by-targeting-disease-pathogenesis
#14
Lehn K Weaver, Edward M Behrens
Cytokine storm syndromes require rapid diagnosis and treatment to limit the morbidity and mortality caused by the hyperinflammatory state that characterizes these devastating conditions. Herein, we discuss the current knowledge that guides our therapeutic decision-making and personalization of treatment for patients with cytokine storm syndromes. Firstly, ICU-level supportive care is often required to stabilize patients with fulminant disease while additional diagnostic evaluations proceed to determine the underlying cause of cytokine storm...
March 2017: Current Treatment Options in Rheumatology
https://www.readbyqxmd.com/read/28935694/cellular-kinetics-of-ctl019-in-relapsed-refractory-b-cell-acute-lymphoblastic-leukemia-and-chronic-lymphocytic-leukemia
#15
Karen Thudium Mueller, Shannon L Maude, David L Porter, Noelle Frey, Patricia Wood, Xia Han, Edward Waldron, Abhijit Chakraborty, Rakesh Awasthi, Bruce L Levine, J Joseph Melenhorst, Stephan A Grupp, Carl H June, Simon F Lacey
Tisagenlecleucel (CTL019) is an investigational immunotherapy that involves reprogramming a patient's own T cells with a transgene encoding a chimeric antigen receptor to identify and eliminate CD19-expressing cells. We previously reported that CTL019 achieved impressive clinical efficacy in patients with relapsed/refractory B-cell acute lymphoblastic leukemia (ALL) and chronic lymphocytic leukemia (CLL), including the expansion and persistence of CTL019 cells, which correlates with response to therapy. Here, we performed formal cellular kinetic analyses of CTL019 in a larger cohort of 103 patients treated with CTL019 in 2 different diseases (ALL and CLL)...
September 21, 2017: Blood
https://www.readbyqxmd.com/read/28935680/cardiac-events-during-competitive-recreational-and-daily-activities-in-children-and-adolescents-with-long-qt-syndrome
#16
Kristina D Chambers, Virginie Beausejour Ladouceur, Mark E Alexander, Robyn J Hylind, Laura Bevilacqua, Douglas Y Mah, Vassilios Bezzerides, John K Triedman, Edward P Walsh, Dominic J Abrams
BACKGROUND: The 2005 Bethesda Conference Guidelines advise patients with long QT syndrome against competitive sports. We assessed cardiac event rates during competitive and recreational sports, and daily activities among treated long QT syndrome patients. METHODS AND RESULTS: Long QT syndrome patients aged ≥4 years treated with anti-adrenergic therapy were included. Demographics included mechanism of presentation, corrected QT interval pretreatment, symptom history, medication compliance, and administration of QT-prolonging medications...
September 21, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28930961/impact-of-a-novel-phosphoinositol-3-kinase-inhibitor-in-preventing-mitochondrial-dna-damage-and-damage-associated-molecular-pattern-accumulation-results-from-the-biochronicity-project
#17
George Edward Black, Kyle K Sokol, Donald M Moe, Jon D Simmons, David Muscat, Victor Pastukh, Gina Capley, Olena Gorodnya, Mykhaylo Ruchko, Mark B Roth, Mark Gillespie, Matthew J Martin
BACKGROUND: Despite improvements in the management of severely injured patients, development of multiple organ dysfunction syndrome (MODS) remains a morbid complication of traumatic shock. One of the key attributes of MODS is a profound bioenergetics crisis, for which the mediators and mechanisms are poorly understood. We hypothesized that metabolic uncoupling using an experimental phosphoinositol-3 kinase (PI3-K) inhibitor, LY294002 (LY), may prevent mitochondrial abnormalities that lead to the generation of mitochondrial DNA (mtDNA) damage and the release of mtDNA damage-associated molecular patterns (DAMPs)...
October 2017: Journal of Trauma and Acute Care Surgery
https://www.readbyqxmd.com/read/28930612/genetic-addiction-risk-score-gars-%C3%A2-a-predictor-of-vulnerability-to-opioid-dependence
#18
Kenneth Blum, Amanda L C Chen, Panayotis K Thanos, Marcelo Febo, Zsolt Demetrovics, Kristina Dushaj, Abraham Kovoor, David Baron, David E Smith, Alphonso Kenison Roy Iii, Lyle Fried, Thomas J H Chen, Edwin Chapman, Edward Modestino, Bruce Steinberg, Rajendra D Badgaiyan
The interaction of neurotransmitters and genes that control the release of dopamine is the Brain Reward Cascade (BRC). Variations within the BRC, whether genetic or epigenetic, may predispose individuals to addictive behaviors and altered pain tolerance. This discussion authored by a group of concerned scientists and clinicians examines the Genetic Addiction Risk Score (GARS), the first test to accurately predict vulnerability to pain, addiction, and other compulsive behaviors, defined as Reward Deficiency Syndrome (RDS)...
January 1, 2018: Frontiers in Bioscience (Elite Edition)
https://www.readbyqxmd.com/read/28930086/outbreaks-of-acropora-white-syndrome-and-terpios-sponge-overgrowth-combined-with-coral-mortality-in-palk-bay-southeast-coast-of-india
#19
T Thinesh, G Mathews, K Diraviya Raj, J K P Edward
Acropora white syndrome (AWS) and Terpios sponge overgrowth (TSO) are serious threats to coral communities in various regions; however, information on these 2 lesions in the Indian Ocean is much more limited than in the Indo-Pacific. The present study revealed the impact of these lesions on the Palk Bay reef, India, and covered an area of 7 km2. In total, 1930 colonies were permanently monitored to assess incidences of AWS and TSO and consequent mortality for a period of 1 yr. TSO affected 5 coral genera and caused 20...
September 20, 2017: Diseases of Aquatic Organisms
https://www.readbyqxmd.com/read/28928975/a-unique-association-of-noonan-syndrome-and-47-xyy-syndrome-in-a-male-presenting-with-failure-to-thrive
#20
Edward J Bellfield, Zohra Shad
We describe a 24-month-old male patient who presented to our Genetics-Endocrinology Clinic with a history of failure to thrive, short stature and cryptorchidism. Soon after birth he was diagnosed with 47,XYY syndrome, but due unusual facial features had further diagnostic workup which revealed Noonan syndrome (NS) as well. This report illustrates significant phenotypic-cytogenetic variability within the clinical presentation of NS and 47,XYY syndrome, as well as the need to investigate patients for other genetic defects when phenotype does not correlate with genotype...
September 2017: Oxford Medical Case Reports
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