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Dennys syndrome

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https://www.readbyqxmd.com/read/28087426/next-generation-sequencing-of-a-large-gene-panel-in-patients-initially-diagnosed-with-idiopathic-ventricular-fibrillation
#1
Marloes Visser, Dennis Dooijes, Jasper J van der Smagt, Jeroen F van der Heijden, Pieter A Doevendans, Peter Loh, Folkert W Asselbergs, Rutger J Hassink
BACKGROUND: Idiopathic ventricular fibrillation (IVF) is a rare primary cardiac arrhythmia syndrome that is diagnosed in a resuscitated cardiac arrest victim, with documented ventricular fibrillation, in whom no underlying cause is identified after comprehensive clinical evaluation. In some patients causative genetic mutations are detected which facilitate patient treatment and follow-up. The feasibility of next generation sequencing (NGS) has increased with its greater availability and decreasing costs...
January 10, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28081568/non-lethal-endotoxin-injection-a-rat-model-of-hypercoagulability
#2
Marjory B Brooks, James R Turk, Abraham Guerrero, Padma K Narayanan, John P Nolan, Elizabeth G Besteman, Dennis W Wilson, Roberta A Thomas, Cindy E Fishman, Karol L Thompson, Heidrun Ellinger-Ziegelbauer, Jennifer B Pierson, April Paulman, Alan Y Chiang, Albert E Schultze
Systemic inflammation co-activates coagulation, which unchecked culminates in a lethal syndrome of multi-organ microvascular thrombosis known as disseminated intravascular coagulation (DIC). We studied an endotoxin-induced inflammatory state in rats to identify biomarkers of hemostatic imbalance favoring hypercoagulability. Intraperitoneal injection of LPS at 15 mg/kg body weight resulted in peripheral leukopenia and widespread neutrophilic sequestration characteristic of an acute systemic inflammatory response...
2017: PloS One
https://www.readbyqxmd.com/read/28053137/activation-of-cecr1-in-m2-like-tams-promotes-paracrine-stimulation-mediated-glial-tumor-progression
#3
Changbin Zhu, Dana Mustafa, Ping-Pin Zheng, Marcel van der Weiden, Andrea Sacchetti, Maarten Brandt, Ihsan Chrifi, Dennie Tempel, Pieter J M Leenen, Dirk Jan Duncker, Caroline Cheng, Johan M Kros
BACKGROUND: The majority of glioma-associated microglia/macrophages have been identified as M2-type macrophages with immune suppressive and tumor supportive action. Recently, the extracellular adenosine deaminase protein Cat Eye Syndrome Critical Region Protein 1 (CECR1) was shown to regulate macrophage maturation. In this study, we investigate the role of CECR1 in the regulation of the glioma-associated macrophage response. METHODS: Expression of CECR1 was assessed in human glioma samples...
January 3, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/28034899/comparison-of-the-efficacy-and-safety-of-early-rule-out-pathways-for-acute-myocardial-infarction
#4
Andrew R Chapman, Atul Anand, Jasper Boeddinghaus, Amy V Ferry, Dennis Sandeman, Philip D Adamson, Jack P Andrews, Stephanie Tan, Sheun F Cheng, Michelle D'Souza, Kate Orme, Fiona E Strachan, Thomas Nestelberger, Raphael Twerenbold, Patrick Badertscher, Tobias Reichlin, Alasdair Gray, Anoop S V Shah, Christian Mueller, David E Newby, Nicholas L Mills
BACKGROUND: -High-sensitivity cardiac troponin assays enable myocardial infarction to be ruled out earlier, but the optimal approach is uncertain. We compared the European Society of Cardiology (ESC) rule-out pathway, with a pathway that incorporates lower cardiac troponin concentrations to risk stratify patients. METHODS: -Patients with suspected acute coronary syndrome (n=1,218) underwent high-sensitivity cardiac troponin I measurement at presentation, 3 and 6 or 12 hours...
December 29, 2016: Circulation
https://www.readbyqxmd.com/read/28017209/high-dose-methotrexate-with-leucovorin-rescue-for-monumentally-severe-cns-inflammatory-syndromes
#5
Shin C Beh, Eric Kildebeck, Ram Narayan, Allen Desena, Doug Schell, Elizabeth S Rowe, Vernon Rowe, Dennis Burns, Louis Whitworth, Teresa C Frohman, Benjamin Greenberg, Elliot M Frohman
BACKGROUND: At sufficiently high doses, methotrexate (HDMTX) achieves substantial CNS penetration, whereas other tissues can be rescued from the effects of HDMTX by leucovorin rescue (LR), which does not penetrate the blood-brain barrier. OBJECTIVES: To report on the efficacy and safety of HDMTX with LR (HDMTX-LR), in the treatment of acute demyelinating inflammatory CNS syndromes refractory to conventional immunotherapy. METHODS: We performed a retrospective chart review of 12 patients treated (6 multiple sclerosis [MS], 4 neuromyelitis optica [NMO], and 2 Sjogren's syndrome myelopathy [SSM]) with HDMTX-LR after failing to improve, or exhibiting worsening following conventional immunotherapy...
January 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28013226/disseminated-intravascular-coagulation
#6
Benjamin M Boral, Dennis J Williams, Leonard I Boral
OBJECTIVES: To provide a review of the definition, pathophysiology, differential diagnosis, and treatment of disseminated intravascular coagulation (DIC). METHODS: A case scenario and a review of the literature related to the pertinent facts concerning DIC are provided. RESULTS: DIC is a systemic pathophysiologic process and not a single disease entity, resulting from an overwhelming activation of coagulation that consumes platelets and coagulation factors and causes microvascular fibrin thrombi, which can result in multiorgan dysfunction syndrome from tissue ischemia...
December 24, 2016: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28000062/circulating-t-cells-of-patients-with-nijmegen-breakage-syndrome-show-signs-of-senescence
#7
Ruud W J Meijers, Katarzyna Dzierzanowska-Fangrat, Magdalena Zborowska, Iwona Solarska, Dennis Tielemans, Bob A C van Turnhout, Gertjan Driessen, Mirjam van der Burg, Jacques J M van Dongen, Krystyna H Chrzanowska, Anton W Langerak
PURPOSE: The Nijmegen breakage syndrome (NBS) is an inherited genetic disorder characterized by a typical facial appearance, microcephaly, growth retardation, immunodeficiency, and a strong predisposition to malignancies, especially of lymphoid origin. NBS patients have a mutation in the NBN gene which involves the repair of DNA double-strand breaks (DSBs). Here we studied the peripheral T cell compartment of NBS patients with a focus on immunological senescence. METHODS: The absolute numbers and frequencies of the different T cell subsets were determined in NBS patients from young age till adulthood and compared to age-matched healthy individuals (HI)...
December 21, 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27991736/kmt2d-p-gln3575his-segregating-in-a-family-with-autosomal-dominant-choanal-atresia-strengthens-the-kabuki-charge-connection
#8
Lauren Badalato, Sali M K Farhan, Allison A Dilliott, Dennis E Bulman, Robert A Hegele, Sharan L Goobie
Choanal atresia is rarely reported in Kabuki syndrome, but is a common feature of CHARGE syndrome. Otherwise, the two conditions have a number of overlapping features, and the molecular links between them have recently been elucidated. Here, we report a case of a mother and her two children who presented with congenital choanal atresia. We performed whole exome sequencing on DNA from the mother and her two unaffected parents, and identified a de novo, novel variant in KMT2D. KMT2D p.Gln3575His segregated with disease status in the family, and is associated with a unique and conserved phenotype in the affected family members, with features overlapping with Kabuki and CHARGE syndromes...
January 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27988049/update-on-feline-ionized-hypercalcemia
#9
REVIEW
Joao Felipe de Brito Galvao, Valerie Parker, Patricia A Schenck, Dennis J Chew
Hypercalcemia in cats is recognized with increased frequency, especially idiopathic hypercalcemia, which is the most common cause. Idiopathic hypercalcemia seems to be unique to the cat, not occurring in the dog as a specific syndrome. There are many causes of hypercalcemia, and diagnosis relies on evaluation of clinical signs, physical examination, diagnostic imaging, serum biochemistry, urinalysis, and evaluation of calcium metabolic hormones. With an accurate diagnosis, treatment options can be tailored to the individual...
December 14, 2016: Veterinary Clinics of North America. Small Animal Practice
https://www.readbyqxmd.com/read/27965390/dna-methylation-in-the-gene-body-influences-mecp2-mediated-gene-repression
#10
Benyam Kinde, Dennis Y Wu, Michael E Greenberg, Harrison W Gabel
Rett syndrome is a severe neurodevelopmental disorder caused by mutations in the methyl-CpG binding protein gene (MECP2). MeCP2 is a methyl-cytosine binding protein that is proposed to function as a transcriptional repressor. However, multiple gene expression studies comparing wild-type and MeCP2-deficient neurons have failed to identify gene expression changes consistent with loss of a classical transcriptional repressor. Recent work suggests that one function of MeCP2 in neurons is to temper the expression of the longest genes in the genome by binding to methylated CA dinucleotides (mCA) within transcribed regions of these genes...
December 27, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27958691/triple-rule-out-cardiac-ct-is-it-finally-a-reality
#11
Regina DE LA Mora Cervantes, Carole Dennie
Acute coronary syndrome (ACS), pulmonary embolism and acute aortic syndrome are the most common causes of life threatening chest pain. The triple rule-out CT (TRO CT) has emerged as a technology that can simultaneously visualize the coronary arteries, aorta and pulmonary arteries as well as other intrathoracic structures. It has been proposed as a one-stop imaging modality in patients who present to the emergency department with low to intermediate risk of ACS in whom pulmonary embolism and/or acute aortic syndrome are also considered...
December 13, 2016: Minerva Cardioangiologica
https://www.readbyqxmd.com/read/27941423/a-systemic-inflammation-mortality-risk-assessment-contingency-table-for-severe-sepsis
#12
Joseph A Carcillo, Katherine Sward, E Scott Halstead, Russell Telford, Adria Jimenez-Bacardi, Bita Shakoory, Dennis Simon, Mark Hall
OBJECTIVES: We tested the hypothesis that a C-reactive protein and ferritin-based systemic inflammation contingency table can track mortality risk in pediatric severe sepsis. DESIGN: Prospective cohort study. SETTING: Tertiary PICU. PATIENTS: Children with 100 separate admission episodes of severe sepsis were enrolled. INTERVENTIONS: Blood samples were attained on day 2 of sepsis and bi-weekly for biomarker batch analysis...
December 9, 2016: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/27941157/association-between-high-sensitivity-troponin-t-and-cardiovascular-risk-in-individuals-with-and-without-metabolic-syndrome-the-aric-study
#13
Yashashwi Pokharel, Wensheng Sun, Dennis T Villareal, Elizabeth Selvin, Salim S Virani, Chiadi E Ndumele, Ron C Hoogeveen, Josef Coresh, Eric Boerwinkle, Kenneth R Butler, Scott D Solomon, James S Pankow, Biykem Bozkurt, Christie M Ballantyne, Vijay Nambi
BACKGROUND: Metabolic syndrome (MetS) is associated with increased risk for cardiovascular disease, but there is heterogeneity in this risk. We evaluated whether high-sensitivity troponin T (hs-cTnT), a marker associated with cardiovascular disease, can stratify risk in MetS. METHODS: We evaluated associations between MetS (and groups with similar number of MetS components) and incident heart failure hospitalization, coronary heart disease, stroke and death using hs-cTnT categories after adjusting for risk factors/markers between 1996 and 2011 in 8204 individuals in the Atherosclerosis Risk In Communities study...
December 9, 2016: European Journal of Preventive Cardiology
https://www.readbyqxmd.com/read/27934915/the-defining-dna-methylation-signature-of-floating-harbor-syndrome
#14
Rebecca L Hood, Laila C Schenkel, Sarah M Nikkel, Peter J Ainsworth, Guillaume Pare, Kym M Boycott, Dennis E Bulman, Bekim Sadikovic
Floating-Harbor syndrome (FHS) is an autosomal dominant genetic condition characterized by short stature, delayed osseous maturation, expressive language impairment, and unique facial dysmorphology. We previously identified mutations in the chromatin remodeling protein SRCAP (SNF2-related CBP Activator Protein) as the cause of FHS. SRCAP has multiple roles in chromatin and transcriptional regulation; however, specific epigenetic consequences of SRCAP mutations remain to be described. Using high resolution genome-wide DNA methylation analysis, we identified a unique and highly specific DNA methylation "epi-signature" in the peripheral blood of individuals with FHS...
December 9, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27908650/musculoskeletal-conditions-in-a-pediatric-population-with-ehlers-danlos-syndrome
#15
Courtney M Stern, Michael J Pepin, Joan M Stoler, Dennis E Kramer, Samantha A Spencer, Cynthia J Stein
OBJECTIVE: To describe musculoskeletal conditions in children with Ehlers-Danlos syndrome (EDS). STUDY DESIGN: A retrospective medical record review was performed, which evaluated 205 patients with EDS (ages 6-19 years) seen in sports medicine or orthopedic clinic at a large pediatric hospital over a 5-year period. RESULTS: Female (n = 147) and male (n = 57) patients were identified (mean age 12.7 years). The most common EDS subtype (55...
November 28, 2016: Journal of Pediatrics
https://www.readbyqxmd.com/read/27903507/hydroxychloroquine-inhibits-proinflammatory-signalling-pathways-by-targeting-endosomal-nadph-oxidase
#16
Nadine Müller-Calleja, Davit Manukyan, Antje Canisius, Dennis Strand, Karl J Lackner
OBJECTIVES: Hydroxychloroquine (HCQ) has been used for decades to treat patients with rheumatic diseases, for example, systemic lupus erythematosus (SLE), rheumatoid arthritis or the antiphospholipid syndrome (APS). We hypothesise that HCQ might target endosomal NADPH oxidase (NOX), which is involved in the signal transduction of cytokines as well as antiphospholipid antibodies (aPL). METHODS: For in vitro experiments, monocytic cells were stimulated with tumour necrosis factor α (TNFα), interleukin-1β (IL-1β) or a human monoclonal aPL and the activity of NOX was determined by flow cytometry...
November 30, 2016: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/27891564/a-homozygous-pign-missense-mutation-in-soft-coated-wheaten-terriers-with-a-canine-paroxysmal-dyskinesia
#17
Ana L Kolicheski, Gary S Johnson, Tendai Mhlanga-Mutangadura, Jeremy F Taylor, Robert D Schnabel, Taroh Kinoshita, Yoshiko Murakami, Dennis P O'Brien
Hereditary paroxysmal dyskinesias (PxD) are a heterogeneous group of movement disorders classified by frequency, duration, and triggers of the episodes. A young-adult onset canine PxD has segregated as an autosomal recessive trait in Soft-Coated Wheaten Terriers. The medical records and videos of episodes from 25 affected dogs were reviewed. The episodes of hyperkinesia and dystonia lasted from several minutes to several hours and could occur as often as >10/day. They were not associated with strenuous exercise or fasting but were sometimes triggered by excitement...
January 2017: Neurogenetics
https://www.readbyqxmd.com/read/27864895/the-postreperfusion-syndrome-is-associated-with-acute-kidney-injury-following-donation-after-brain-death-liver-transplantation
#18
Marit Kalisvaart, Jubi E de Haan, Dennis A Hesselink, Wojciech G Polak, Bettina E Hansen, Jan N M IJzermans, Diederik Gommers, Herold J Metselaar, Jeroen de Jonge
Acute kidney injury (AKI) is frequently observed after DBD liver transplantation (LT) and associated with impaired recipient survival and chronic kidney disease. Hepatic ischemia/reperfusion injury (IRI) is suggested to be an important factor in this process. The postreperfusion syndrome (PRS) is the first manifestation of severe hepatic IRI directly after reperfusion. We performed a retrospective study on the relation between hepatic IRI and PRS and their impact on AKI in 155 DBD LT recipients. Severity of hepatic IRI was measured by peak postoperative AST levels and PRS was defined as >30% decrease in MAP ≥1 minute <5 minutes after reperfusion...
November 19, 2016: Transplant International: Official Journal of the European Society for Organ Transplantation
https://www.readbyqxmd.com/read/27863270/fluid-resuscitation-mediates-the-association-between-inhalational-burn-injury-and-acute-kidney-injury-in-the-major-burn-population
#19
Avinash B Kumar, William Andrews, Yaping Shi, Matthew S Shotwell, Scott Dennis, Jonathan Wanderer, Blair Summitt
BACKGROUND: It is known that acute respiratory distress syndrome and acute lung injury are independent risk factors for developing acute kidney injury (AKI) through complex pathophysiologic mechanisms. Our specific aim is to evaluate the risk factors for AKI postburn injury and whether inhalation thermal injury is an independent risk factor for developing AKI in the major burn population. METHODS: This is an institutional review board-approved, retrospective cohort study of patients admitted to a tertiary burn intensive care unit between 2011 and 2013...
October 19, 2016: Journal of Critical Care
https://www.readbyqxmd.com/read/27829096/cognitive-subtypes-of-schizophrenia-characterized-by-differential-brain-volumetric-reductions-and-cognitive-decline
#20
Danielle Weinberg, Rhoshel Lenroot, Isabella Jacomb, Katherine Allen, Jason Bruggemann, Ruth Wells, Ryan Balzan, Dennis Liu, Cherrie Galletly, Stanley V Catts, Cynthia Shannon Weickert, Thomas W Weickert
Importance: Cognitively distinct subgroups of schizophrenia have been defined based on premorbid and current IQ, but little is known about the neuroanatomical differences among these cognitive subgroups. Objectives: To confirm previous findings related to IQ-based subgroups of patients with schizophrenia in an independent sample and extend those findings to determine the extent to which brain volumetric differences correspond to the IQ-based subgroups. Design, Setting, and Participants: A total of 183 participants were assessed at the outpatient settings of Neuroscience Research Australia and Lyell McEwin Hospital from September 22, 2009, to August 1, 2012...
December 1, 2016: JAMA Psychiatry
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