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https://www.readbyqxmd.com/read/28410274/three-hypothetical-inflammation-pathobiology-phenotypes-and-pediatric-sepsis-induced-multiple-organ-failure-outcome
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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...
March 28, 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
#7
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
#8
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
#9
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
#10
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
#11
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-in-acute-coronary-syndromes-the-radmatrix-trial
#12
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 increases the risk of operator or patient radiation exposure when performed by expert operators OBJECTIVES: To determine whether radial access increases radiation exposure METHODS: We randomly assigned 8404 patients, with or without ST-segment elevation acute coronary syndrome, to radial or femoral access for coronary angiography and percutaneous intervention, and collected fluoroscopy time and dose area product (DAP). In the radiation sub-study (RAD-MATRIX), we anticipated that 13 or more operators, each wearing a thorax (primary endpoint), wrist and head (secondary endpoints) lithium fluoride thermo luminescent dosimeter and randomizing at least 13 patients per access site were needed to establish non-inferiority of radial versus femoral access...
March 15, 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
#13
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
#14
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
https://www.readbyqxmd.com/read/28274641/pathways-for-neuroimaging-of-childhood-stroke
#15
REVIEW
David M Mirsky, Lauren A Beslow, Catherine Amlie-Lefond, Pradeep Krishnan, Suzanne Laughlin, Sarah Lee, Laura Lehman, Mubeen Rafay, Dennis Shaw, Michael J Rivkin, Max Wintermark
BACKGROUND: The purpose of this article is to aid practitioners in choosing appropriate neuroimaging for children who present with symptoms that could be caused by stroke. METHODS: The Writing Group members participated in one or more pediatric stroke neuroimaging symposiums hosted by the Stroke Imaging Laboratory for Children housed at the Hospital for Sick Children in Toronto, Ontario, Canada. Through collaboration, literature review, and discussion among child neurologists with expertise diagnosing and treating childhood stroke and pediatric neuroradiologists and neuroradiologists with expertise in pediatric neurovascular disease, suggested imaging protocols are presented for children with suspected stroke syndromes including arterial ischemic stroke, cerebral sinovenous thrombosis, and hemorrhagic stroke...
January 25, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28229031/characterization-of-sleep-architecture-in-down-syndrome-patients-pre-and-post-airway-surgery
#16
Mark Mims, Prasad John Thottam, Dennis Kitsko, Amber Shaffer, Sukgi Choi
OBJECTIVES: To define obstructive sleep architecture patterns in Down syndrome (DS) children as well as changes to sleep architecture patterns postoperatively. STUDY DESIGN: The study was a retrospective review. METHODS: Forty-five pediatric DS patients who underwent airway surgery between 2003 and 2014 at a tertiary children's hospital for obstructive sleep apnea (OSA) were investigated. Postoperative changes in respiratory parameters and sleep architecture (SA) were assessed and compared to general pediatric normative data using paired t-tests and Wilcoxon signed-rank test...
January 17, 2017: Curēus
https://www.readbyqxmd.com/read/28216061/outcomes-after-primary-percutaneous-coronary-intervention-for-st-elevation-myocardial-infarction-caused-by-ectatic-infarct-related-arteries
#17
Vimalraj Bogana Shanmugam, Peter J Psaltis, Dennis T L Wong, Ian T Meredith, Yuvaraj Malaiapan, Wally Ahmar
BACKGROUND: There is minimal published data on outcomes of patients presenting with ST elevation myocardial infarction (STEMI) due to an ectatic infarct-related artery (EIRA). The aim of this study was to analyse the clinical characteristics and outcomes of these patients presenting for primary percutaneous coronary intervention (P-PCI) in comparison with non-EIRA. METHODS: Of the 1834 patients who presented at our institution for P-PCI between February 2008 and November 2013, 25 (1...
February 7, 2017: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/28215471/dopamine-serotonin-stabilizer-rp5063-a-randomized-double-blind-placebo-controlled-multicenter-trial-of-safety-and-efficacy-in-exacerbation-of-schizophrenia-or-schizoaffective-disorder
#18
Marc Cantillon, Arul Prakash, Ajay Alexander, Robert Ings, Dennis Sweitzer, Laxminarayan Bhat
The study objectives were to evaluate the efficacy, safety, tolerability, and pharmacokinetics of RP5063 versus placebo. The study was conducted in adults with acute exacerbation of schizophrenia or schizoaffective disorder. This 28-day, multicenter, placebo-controlled, double-blind study randomized 234 subjects to RP5063 15, 30, or 50mg; aripiprazole; or placebo (3:3:3:1:2) once daily. The aripiprazole arm was included solely to show assay sensitivity and was not powered to show efficacy. The primary endpoint was change from baseline to Day 28/EOT (End-of-Treatment) in Positive and Negative Syndrome Scale (PANSS) total score; secondary endpoints included PANSS subscales, improvement ≥1 point on the Clinical Global Impressions-Severity (CGI-S), depression and cognition scales...
February 16, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28165339/mutations-in-sphingosine-1-phosphate-lyase-cause-nephrosis-with-ichthyosis-and-adrenal-insufficiency
#19
Svjetlana Lovric, Sara Goncalves, Heon Yung Gee, Babak Oskouian, Honnappa Srinivas, Won-Il Choi, Shirlee Shril, Shazia Ashraf, Weizhen Tan, Jia Rao, Merlin Airik, David Schapiro, Daniela A Braun, Carolin E Sadowski, Eugen Widmeier, Tilman Jobst-Schwan, Johanna Magdalena Schmidt, Vladimir Girik, Guido Capitani, Jung H Suh, Noëlle Lachaussée, Christelle Arrondel, Julie Patat, Olivier Gribouval, Monica Furlano, Olivia Boyer, Alain Schmitt, Vincent Vuiblet, Seema Hashmi, Rainer Wilcken, Francois P Bernier, A Micheil Innes, Jillian S Parboosingh, Ryan E Lamont, Julian P Midgley, Nicola Wright, Jacek Majewski, Martin Zenker, Franz Schaefer, Navina Kuss, Johann Greil, Thomas Giese, Klaus Schwarz, Vilain Catheline, Denny Schanze, Ingolf Franke, Yves Sznajer, Anne S Truant, Brigitte Adams, Julie Désir, Ronald Biemann, York Pei, Elisabet Ars, Nuria Lloberas, Alvaro Madrid, Vikas R Dharnidharka, Anne M Connolly, Marcia C Willing, Megan A Cooper, Richard P Lifton, Matias Simons, Howard Riezman, Corinne Antignac, Julie D Saba, Friedhelm Hildebrandt
Steroid-resistant nephrotic syndrome (SRNS) causes 15% of chronic kidney disease cases. A mutation in 1 of over 40 monogenic genes can be detected in approximately 30% of individuals with SRNS whose symptoms manifest before 25 years of age. However, in many patients, the genetic etiology remains unknown. Here, we have performed whole exome sequencing to identify recessive causes of SRNS. In 7 families with SRNS and facultative ichthyosis, adrenal insufficiency, immunodeficiency, and neurological defects, we identified 9 different recessive mutations in SGPL1, which encodes sphingosine-1-phosphate (S1P) lyase...
March 1, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28146047/similarities-and-differences-matter-considering-the-influence-of-gender-on-hiv-prevention-programs-for-young-adults-in-an-urban-hbcu
#20
Ian Lindong, Lorece Edwards, Sabriya Dennis, Olaoluwa Fajobi
Human Immunodeficiency Virus/Acquired Immune Deficiency Syndrome (HIV/AIDS) disproportionately burdens African American youth and young adults. In studies conducted in Historically Black Colleges and Universities (HBCU) settings, African American youth generally perceive themselves as having a low risk of contracting HIV and sexually transmitted diseases (STDs) despite having higher rates of unprotected sexual encounters, multiple sex partners, and particularly low rates of HIV testing and awareness of HIV status...
January 29, 2017: International Journal of Environmental Research and Public Health
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