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Dennys syndrome

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https://www.readbyqxmd.com/read/28346493/aberrant-neuronal-activity-induced-signaling-and-gene-expression-in-a-mouse-model-of-rasopathy
#1
Franziska Altmüller, Santosh Pothula, Anil Annamneedi, Saeideh Nakhei-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 27, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28344987/safe-and-effective-gene-therapy-for-murine-wiskott-aldrich-syndrome-using-an-insulated-lentiviral-vector
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/28124477/a-predictive-model-for-obstructive-sleep-apnea-and-down-syndrome
#13
Brian G Skotko, Eric A Macklin, Marco Muselli, Lauren Voelz, Mary Ellen McDonough, Emily Davidson, Veerasathpurush Allareddy, Yasas S N Jayaratne, Richard Bruun, Nicholas Ching, Gil Weintraub, David Gozal, Dennis Rosen
Obstructive sleep apnea (OSA) occurs frequently in people with Down syndrome (DS) with reported prevalences ranging between 55% and 97%, compared to 1-4% in the neurotypical pediatric population. Sleep studies are often uncomfortable, costly, and poorly tolerated by individuals with DS. The objective of this study was to construct a tool to identify individuals with DS unlikely to have moderate or severe sleep OSA and in whom sleep studies might offer little benefit. An observational, prospective cohort study was performed in an outpatient clinic and overnight sleep study center with 130 DS patients, ages 3-24 years...
January 26, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28111185/novel-frem1-mutations-in-a-patient-with-mota-syndrome-clinical-findings-mutation-update-and-review-of-frem1-related-disorders-literature
#14
REVIEW
Oscar F Chacon-Camacho, Martin Zenker, Denny Schanze, Jasbeth Ledesma-Gil, Juan C Zenteno
Manitoba-oculo-tricho-anal (MOTA) syndrome is an uncommon condition arising from biallelic mutations of FREM1 gene and clinically characterized by a variable spectrum of eyelid malformations, aberrant hairline, bifid or broad nasal tip, and gastrointestinal anomalies. In this report, we describe a patient with a phenotype compatible with MOTA syndrome (aberrant anterior hair line, hypertelorism, unilateral anophthalmia, and bifid and broad nasal tip) in whom two novel FREM1 mutations (c.305 A > G, p.Asp102Gly; and c...
March 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28108465/outcomes-of-women-and-men-with-acute-coronary-syndrome-treated-with-and-without-percutaneous-coronary-revascularization
#15
Jacob A Udell, Maria Koh, Feng Qiu, Peter C Austin, Harindra C Wijeysundera, Akshay Bagai, Andrew T Yan, Shaun G Goodman, Jack V Tu, Dennis T Ko
BACKGROUND: Women hospitalized with a non-ST segment elevation acute coronary syndrome (ACS) have worse clinical outcomes compared with men. An early invasive strategy with prompt coronary revascularization may mitigate sex differences in outcomes. However, few contemporary studies have evaluated whether clinical outcomes differ between women and men presenting with ACS treated with an early invasive strategy. METHODS AND RESULTS: A population-based cohort of hospitalized ACS patients who received prompt cardiac catheterization from 2008 to 2011 in Ontario, Canada and followed for up to 2 years was studied...
January 20, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28103732/evaluation-of-antivenom-therapy-for-vipera-palaestinae-bites-in-children-experience-of-two-large-tertiary-care-pediatric-hospitals
#16
Dikla Pivko-Levy, Itamar Munchnak, Ayelet Rimon, Uri Balla, Dennis Scolnik, Christopher Hoyte, Yair Voliovitch, Miguel Glatstein
BACKGROUND: Antivenom has been successfully used to treat systemic and progressive, local manifestations of envenomation inflicted by Vipera (V.) palaestinae, the most common venomous snake in Israel. The objective of this study was to evaluate the fixed dose V. palaestinae monovalent (equine) immunoglobulin G antivenom used in two pediatric emergency departments. In particular, we wanted to assess the need for repeated antivenom administration and the rate of adverse antivenom effects in children...
April 2017: Clinical Toxicology
https://www.readbyqxmd.com/read/28102592/six-uneventful-pregnancy-outcomes-in-an-extended-vascular-ehlers-danlos-syndrome-family
#17
Annette F Baas, Wilko Spiering, Frans L Moll, Lieve Page-Christiaens, Ingrid C M Beenakkers, Dennis Dooijes, Evert-Jan P A Vonken, Jasper J van der Smagt, Nine V Knoers, Steven V Koenen, Joost A van Herwaarden, Gertjan Tj Sieswerda
Vascular Ehlers-Danlos Syndrome (vEDS) is caused by heterozygous mutations in COL3A1 and is characterized by fragile vasculature and hollow organs, with a high risk of catastrophic events at a young age. During pregnancy and delivery, maternal mortality rates up until 25% have been reported. However, recent pedigree analysis reported a substantial lower pregnancy-related mortality rate of 4.9%. Here, we describe an extended vEDS family with multiple uneventful pregnancy outcomes. In the proband, a 37-year-old woman, DNA-analysis because of an asymptomatic iliac artery dissection revealed a pathogenic mutation in COL3A1 (c...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28099234/electrographic-seizures-in-children-and-neonates-undergoing-extracorporeal-membrane-oxygenation
#18
Jainn-Jim Lin, Brenda L Banwell, Robert A Berg, Dennis J Dlugos, Rebecca N Ichord, Todd J Kilbaugh, Roxanne E Kirsch, Matthew P Kirschen, Daniel J Licht, Shavonne L Massey, Maryam Y Naim, Natalie E Rintoul, Alexis A Topjian, Nicholas S Abend
OBJECTIVE: We aimed to determine the prevalence and risk factors for electrographic seizures in neonates and children requiring extracorporeal membrane oxygenation support. DESIGN: Prospective quality improvement project. SETTING: Quaternary care pediatric institution. PATIENTS: Consistent with American Clinical Neurophysiology Society electroencephalographic monitoring recommendations, neonates and children requiring extracorporeal membrane oxygenation support underwent clinically indicated electroencephalographic monitoring...
March 2017: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/28087426/next-generation-sequencing-of-a-large-gene-panel-in-patients-initially-diagnosed-with-idiopathic-ventricular-fibrillation
#19
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
#20
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
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