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https://www.readbyqxmd.com/read/28546034/in-stent-restenosis-nine-years-after-initial-placement-of-a-drug-eluting-stent
#1
Dennis A Hopkinson, Vikram Raje, Ion S Jovin
In-stent restenosis after drug-eluting stent implantation is a rare event and the time frame of restenosis occurrence is less well understood for drug-eluting stent. We describe the case of a patient who presented with an acute coronary syndrome and was found to have severe focal in-stent restenosis in a drug-eluting stent that was placed 9 years earlier.
May 18, 2017: Cardiovascular Revascularization Medicine: Including Molecular Interventions
https://www.readbyqxmd.com/read/28530678/the-complex-genetics-of-hypoplastic-left-heart-syndrome
#2
Xiaoqin Liu, Hisato Yagi, Shazina Saeed, Abha S Bais, George C Gabriel, Zhaohan Chen, Kevin A Peterson, You Li, Molly C Schwartz, William T Reynolds, Manush Saydmohammed, Brian Gibbs, Yijen Wu, William Devine, Bishwanath Chatterjee, Nikolai T Klena, Dennis Kostka, Karen L de Mesy Bentley, Madhavi K Ganapathiraju, Phillip Dexheimer, Linda Leatherbury, Omar Khalifa, Anchit Bhagat, Maliha Zahid, William Pu, Simon Watkins, Paul Grossfeld, Stephen A Murray, George A Porter, Michael Tsang, Lisa J Martin, D Woodrow Benson, Bruce J Aronow, Cecilia W Lo
Congenital heart disease (CHD) affects up to 1% of live births. Although a genetic etiology is indicated by an increased recurrence risk, sporadic occurrence suggests that CHD genetics is complex. Here, we show that hypoplastic left heart syndrome (HLHS), a severe CHD, is multigenic and genetically heterogeneous. Using mouse forward genetics, we report what is, to our knowledge, the first isolation of HLHS mutant mice and identification of genes causing HLHS. Mutations from seven HLHS mouse lines showed multigenic enrichment in ten human chromosome regions linked to HLHS...
May 22, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28508417/score-of-toxic-epidermal-necrosis-predicts-the-outcomes-of-pediatric-epidermal-necrolysis
#3
Jennifer Sorrell, Lisa Anthony, Alfred Rademaker, Steven M Belknap, Shields Callahan, Dennis P West, Amy S Paller
BACKGROUND/OBJECTIVES: Epidermal necrolysis (Stevens-Johnson syndrome and toxic epidermal necrolysis) includes immune-mediated, life-threatening inflammatory blistering disorders that can affect children. The Score of Toxic Epidermal Necrosis (SCORTEN) tool has accurately predicted the outcome of these disorders in adults but has not been tested in children. METHODS: We performed a retrospective chart review to compare the accuracy of the adult SCORTEN tool with that of two modifications tailored to children in predicting disease outcome...
May 16, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28467028/clinical-diagnosis-of-progressive-supranuclear-palsy-the-movement-disorder-society-criteria
#4
Günter U Höglinger, Gesine Respondek, Maria Stamelou, Carolin Kurz, Keith A Josephs, Anthony E Lang, Brit Mollenhauer, Ulrich Müller, Christer Nilsson, Jennifer L Whitwell, Thomas Arzberger, Elisabet Englund, Ellen Gelpi, Armin Giese, David J Irwin, Wassilios G Meissner, Alexander Pantelyat, Alex Rajput, John C van Swieten, Claire Troakes, Angelo Antonini, Kailash P Bhatia, Yvette Bordelon, Yaroslau Compta, Jean-Christophe Corvol, Carlo Colosimo, Dennis W Dickson, Richard Dodel, Leslie Ferguson, Murray Grossman, Jan Kassubek, Florian Krismer, Johannes Levin, Stefan Lorenzl, Huw R Morris, Peter Nestor, Wolfgang H Oertel, Werner Poewe, Gil Rabinovici, James B Rowe, Gerard D Schellenberg, Klaus Seppi, Thilo van Eimeren, Gregor K Wenning, Adam L Boxer, Lawrence I Golbe, Irene Litvan
BACKGROUND: PSP is a neuropathologically defined disease entity. Clinical diagnostic criteria, published in 1996 by the National Institute of Neurological Disorders and Stroke/Society for PSP, have excellent specificity, but their sensitivity is limited for variant PSP syndromes with presentations other than Richardson's syndrome. OBJECTIVE: We aimed to provide an evidence- and consensus-based revision of the clinical diagnostic criteria for PSP. METHODS: We searched the PubMed, Cochrane, Medline, and PSYCInfo databases for articles published in English since 1996, using postmortem diagnosis or highly specific clinical criteria as the diagnostic standard...
May 3, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28456915/reversible-cerebral-vasoconstriction-syndrome-recognition-and-treatment
#5
REVIEW
Cecilia Cappelen-Smith, Zeljka Calic, Dennis Cordato
Reversible cerebral vasoconstriction syndrome (RCVS) is a rare but increasingly recognized disorder with over 500 cases published in the literature. The condition is characterized by recurrent severe thunderclap headaches with or without other neurological symptoms and diffuse segmental narrowing of the cerebral arteries which is reversible within 3 months. RCVS may occur spontaneously but in over 50% of cases, it is associated with various other conditions, including vasoactive medications or illicit drugs and the post-partum state...
June 2017: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/28453746/activation-of-cecr1-in-m2-like-tams-promotes-paracrine-stimulation-mediated-glial-tumor-progression
#6
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...
May 1, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/28410274/three-hypothetical-inflammation-pathobiology-phenotypes-and-pediatric-sepsis-induced-multiple-organ-failure-outcome
#7
Joseph A Carcillo, E Scott Halstead, Mark W Hall, Trung C Nguyen, Ron Reeder, Rajesh Aneja, Bita Shakoory, Dennis Simon
OBJECTIVES: We hypothesize that three inflammation pathobiology phenotypes are associated with increased inflammation, proclivity to develop features of macrophage activation syndrome, and multiple organ failure-related death in pediatric severe sepsis. DESIGN: Prospective cohort study comparing children with severe sepsis and any of three phenotypes: 1) immunoparalysis-associated multiple organ failure (whole blood ex vivo tumor necrosis factor response to endotoxin < 200 pg/mL), 2) thrombocytopenia-associated multiple organ failure (new onset thrombocytopenia with acute kidney injury and a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13 activity < 57%), and/or 3) sequential multiple organ failure with hepatobiliary dysfunction (respiratory distress followed by liver dysfunction with soluble Fas ligand > 200 pg/mL), to those without any of these phenotypes...
April 13, 2017: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/28408467/isolated-mild-sleep-associated-hypoventilation-in-children-with-down-syndrome
#8
Wai Wong, Dennis Rosen
INTRODUCTION: Children with Down syndrome (DS) have a high incidence of obstructive sleep apnea (OSA) that is often associated with hypoventilation. Little is known, however, about the prevalence of sleep-associated hypoventilation independent of OSA in these children. METHODS: Retrospective chart review of all children with DS under 18 years of age undergoing polysomnography at a tertiary care paediatric hospital during a 2-year period. Exclusion criteria were as follow: those requiring oxygen or positive-pressure ventilation; with tracheostomy, baseline hypoxia, unrepaired cyanotic heart disease, pulmonary hypertension, and cerebral palsy; or OSA with >5 obstructions/hour...
April 13, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28405463/the-use-of-oral-fluids-to-monitor-key-pathogens-in-porcine-respiratory-disease-complex
#9
Juan Hernandez-Garcia, Nardy Robben, Damien Magnée, Thomas Eley, Ian Dennis, Sara M Kayes, Jill R Thomson, Alexander W Tucker
BACKGROUND: The usefulness of oral fluid (OF) sampling for surveillance of infections in pig populations is already accepted but its value as a tool to support investigations of porcine respiratory disease complex (PRDC) has been less well studied. This study set out to describe detection patterns of porcine reproductive and respiratory syndrome virus (PRRSV), porcine circovirus type 2 (PCV2), swine influenza virus type A (SIV) and Mycoplasma hyopneumoniae (M. hyo) among farms showing differing severity of PRDC...
2017: Porcine Health Management
https://www.readbyqxmd.com/read/28387162/outcomes-following-carpal-tunnel-release-in-patients-receiving-workers-compensation-a-systematic-review
#10
John C Dunn, Nicholas A Kusnezov, Logan R Koehler, Dennis Vanden Berge, Ben Genco, Justin Mitchell, Justin D Orr, Mark Pallis
BACKGROUND: Carpal tunnel syndrome (CTS) is a common occupational pathology, representing a high percentage of workers' compensation (WC) claims. METHODS: The literature was reviewed for all studies evaluating CTS outcomes including WC patients between 1993 and 2016. A total of 348 articles were identified; 25 of which met inclusion and exclusion criteria. A systematic review was generated; patient demographics, outcomes, and complications were recorded. Weighted averages were calculated for the demographic and outcome data...
April 1, 2017: Hand: Official Journal of the American Association for Hand Surgery
https://www.readbyqxmd.com/read/28371260/phenotypic-spectrum-of-costello-syndrome-individuals-harboring-the-rare-hras-mutation-p-gly13asp
#11
Débora Bertola, Michelle Buscarilli, Deborah L Stabley, Laura Baker, Daniel Doyle, Dennis W Bartholomew, Katia Sol-Church, Karen W Gripp
Costello syndrome is part of the RASopathies, a group of neurocardiofaciocutaneous syndromes caused by deregulation of the RAS mitogen-activated protein kinase pathway. Heterozygous mutations in HRAS are responsible for Costello syndrome, with more than 80% of the patients harboring the specific p.Gly12Ser variant. These individuals show a homogeneous phenotype. The clinical characteristics of the Costello syndrome individuals harboring rarer HRAS mutations are less understood, due to the small number of reported cases...
May 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28371217/inherited-germline-atrx-mutation-in-two-brothers-with-atr-x-syndrome-and-osteosarcoma
#12
Jianling Ji, Catherine Quindipan, David Parham, Lishuang Shen, David Ruble, Moiz Bootwalla, Dennis T Maglinte, Xiaowu Gai, Sulagna C Saitta, Jaclyn A Biegel, Leo Mascarenhas
We report a family in which two brothers had an undiagnosed genetic disorder comprised of dysmorphic features, microcephaly, severe intellectual disability (non-verbal), mild anemia, and cryptorchidism. Both developed osteosarcoma. Trio exome sequencing (using blood samples from the younger brother and both parents) was performed and a nonsense NM_000489.4:c.7156C>T (p.Arg2386*) mutation in the ATRX gene was identified in the proband (hemizygous) and in the mother's peripheral blood DNA (heterozygous). The mother is healthy, does not exhibit any clinical manifestations of ATR-X syndrome and there was no family history of cancer...
May 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28360976/langerhans-cell-histiocytosis-masquerading-as-acute-appendicitis-case-report-and-review
#13
Mohammad M Karimzada, Michele N Matthews, Samuel W French, Daniel DeUgarte, Dennis Y Kim
Langerhans cell histiocytosis (LCH) is a rare syndrome characterized by unifocal, multifocal unisystem, or disseminated/multi-system disease that commonly involves the bone, skin, lymph nodes, pituitary, or sometimes lung (almost exclusively in smokers) causing a variety of symptoms from rashes and bone lesions to diabetes insipidus or pulmonary infiltrates. We present a previously unreported case of gastrointestinal LCH as well as a novel characteristic lesion affecting the colon of a young woman who presented with signs and symptoms mimicking acute on chronic appendicitis...
March 16, 2017: World Journal of Gastrointestinal Endoscopy
https://www.readbyqxmd.com/read/28359099/pediatric-obesity-assessment-treatment-and-prevention-an-endocrine-society-clinical-practice-guideline
#14
Dennis M Styne, Silva A Arslanian, Ellen L Connor, Ismaa Sadaf Farooqi, M Hassan Murad, Janet H Silverstein, Jack A Yanovski
Cosponsoring Associations: The European Society of Endocrinology and the Pediatric Endocrine Society. This guideline was funded by the Endocrine Society. Objective: To formulate clinical practice guidelines for the assessment, treatment, and prevention of pediatric obesity. Participants: The participants include an Endocrine Society-appointed Task Force of 6 experts, a methodologist, and a medical writer. Evidence: This evidence-based guideline was developed using the Grading of Recommendations, Assessment, Development, and Evaluation approach to describe the strength of recommendations and the quality of evidence...
March 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28346493/aberrant-neuronal-activity-induced-signaling-and-gene-expression-in-a-mouse-model-of-rasopathy
#15
Franziska Altmüller, Santosh Pothula, Anil Annamneedi, Saeideh Nakhaei-Rad, Carolina Montenegro-Venegas, Eneko Pina-Fernández, Claudia Marini, Monica Santos, Denny Schanze, Dirk Montag, Mohammad R Ahmadian, Oliver Stork, Martin Zenker, Anna Fejtova
Noonan syndrome (NS) is characterized by reduced growth, craniofacial abnormalities, congenital heart defects, and variable cognitive deficits. NS belongs to the RASopathies, genetic conditions linked to mutations in components and regulators of the Ras signaling pathway. Approximately 50% of NS cases are caused by mutations in PTPN11. However, the molecular mechanisms underlying cognitive impairments in NS patients are still poorly understood. Here, we report the generation and characterization of a new conditional mouse strain that expresses the overactive Ptpn11D61Y allele only in the forebrain...
March 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28344987/safe-and-effective-gene-therapy-for-murine-wiskott-aldrich-syndrome-using-an-insulated-lentiviral-vector
#16
Swati Singh, Iram Khan, Socheath Khim, Brenda Seymour, Karen Sommer, Matthew Wielgosz, Zachary Norgaard, Hans-Peter Kiem, Jennifer Adair, Denny Liggitt, Arthur Nienhuis, David J Rawlings
Wiskott-Aldrich syndrome (WAS) is a life-threatening immunodeficiency caused by mutations within the WAS gene. Viral gene therapy to restore WAS protein (WASp) expression in hematopoietic cells of patients with WAS has the potential to improve outcomes relative to the current standard of care, allogeneic bone marrow transplantation. However, the development of viral vectors that are both safe and effective has been problematic. While use of viral transcriptional promoters may increase the risk of insertional mutagenesis, cellular promoters may not achieve WASp expression levels necessary for optimal therapeutic effect...
March 17, 2017: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/28333879/intravitreal-aflibercept-injection-for-choroidal-neovascularization-due-to-presumed-ocular-histoplasmosis-syndrome-the-handle-study
#17
Brian W Toussaint, John W Kitchens, Dennis M Marcus, Daniel M Miller, Megan L Kingdon, Diana Holcomb, Ken Ivey
PURPOSE: To evaluate intravitreal aflibercept injection (IAI) in patients with presumed ocular histoplasmosis syndrome and choroidal neovascularization. METHODS: Open-label randomized Phase I/II study of IAI in patients with presumed ocular histoplasmosis syndrome-related choroidal neovascularization. Thirty-nine eyes from 39 patients were randomized in a 1:1 ratio to 2 groups. The Sustained Group eyes (n = 19) underwent monthly IAI for 3 months, then mandatory IAI every 2 months for 12 months (with an option for monthly PRN dosing, if needed)...
March 22, 2017: Retina
https://www.readbyqxmd.com/read/28330794/radiation-exposure-and-vascular-access%C3%A2-in%C3%A2-acute-coronary-syndromes-the-rad-matrix-trial
#18
Alessandro Sciahbasi, Enrico Frigoli, Alessandro Sarandrea, Martina Rothenbühler, Paolo Calabrò, Alessandro Lupi, Francesco Tomassini, Bernardo Cortese, Stefano Rigattieri, Enrico Cerrato, Dennis Zavalloni, Antonio Zingarelli, Paolo Calabria, Paolo Rubartelli, Gennaro Sardella, Matteo Tebaldi, Stephan Windecker, Peter Jüni, Dik Heg, Marco Valgimigli
BACKGROUND: It remains unclear whether radial access increases the risk of operator or patient radiation exposure compared to transfemoral access when performed by expert operators. OBJECTIVES: This study sought to determine whether radial access increases radiation exposure. METHODS: A total of 8,404 patients, with or without ST-segment elevation acute coronary syndrome, were randomly assigned to radial or femoral access for coronary angiography and percutaneous intervention, and collected fluoroscopy time and dose-area product (DAP)...
May 23, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28325650/the-potential-role-of-follicle-stimulating-hormone-in-the-cardiovascular-metabolic-skeletal-and-cognitive-effects-associated-with-androgen-deprivation-therapy
#19
REVIEW
E David Crawford, Andrew V Schally, Jehonathan H Pinthus, Norman L Block, Ferenc G Rick, Marc B Garnick, Robert H Eckel, Thomas E Keane, Neal D Shore, David N Dahdal, Thomas J R Beveridge, Dennis C Marshall
PURPOSE: To explore how follicle-stimulating hormone (FSH) may contribute to cardiovascular, metabolic, skeletal, and cognitive events in men treated for prostate cancer, with various forms of androgen deprivation therapy (ADT). MATERIALS AND METHODS: A colloquium of prostate cancer experts was convened in May 2015, to discuss the role of FSH in the development of unwanted effects associated with ADT. Subsequently, a literature review (Medline, PubMed, and relevant congress abstract databases) was performed to further explore and evaluate the collected evidence...
March 18, 2017: Urologic Oncology
https://www.readbyqxmd.com/read/28285024/shorter-telomere-length-in-people-with-schizophrenia-a-preliminary-study-from-australia
#20
Cherrie Galletly, Varinderpal S Dhillon, Dennis Liu, Ryan P Balzan, Lisa A Hahn, Michael F Fenech
Schizophrenia is a complex mental illness affecting the normal functioning of the brain, interfering with the ability to think, feel and act. It can be conceptualised as a syndrome of accelerated ageing, with early onset of cardiovascular disease and high rates of premature mortality. Telomere attrition increases with oxidative stress and is considered a biomarker of ageing. Previous studies have assessed abnormalities in telomere length in schizophrenia, but the results are inconsistent. The present study used a case-control design to assess whether people with schizophrenia have shortened telomeres, indicative of accelerated ageing...
March 8, 2017: Schizophrenia Research
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