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Dennys syndrome

Giuseppe Gargiulo, Greta Carrara, Enrico Frigoli, Pascal Vranckx, Sergio Leonardi, Nestor Ciociano, Gianluca Campo, Ferdinando Varbella, Paolo Calabrò, Stefano Garducci, Alessandro Iannone, Carlo Briguori, Giuseppe Andò, Gabriele Crimi, Ugo Limbruno, Roberto Garbo, Paolo Sganzerla, Filippo Russo, Alessandro Lupi, Bernardo Cortese, Arturo Ausiello, Salvatore Ierna, Giovanni Esposito, Dennis Zavalloni, Andrea Santarelli, Gennaro Sardella, Simone Tresoldi, Nicoletta de Cesare, Alessandro Sciahbasi, Antonio Zingarelli, Paolo Tosi, Arnoud van 't Hof, Elmir Omerovic, Salvatore Brugaletta, Stephan Windecker, Marco Valgimigli
BACKGROUND: Contrasting evidence exists on the comparative efficacy and safety of bivalirudin and unfractionated heparin (UFH) in relation to the planned use of glycoprotein IIb/IIIa inhibitors (GPIs). OBJECTIVES: This study assessed the efficacy and safety of bivalirudin compared with UFH with or without GPIs in patients with acute coronary syndrome (ACS) who underwent invasive management. METHODS: In the MATRIX (Minimizing Adverse Haemorrhagic Events by Transradial Access Site and Systemic Implementation of AngioX) program, 7,213 patients were randomly assigned to receive either bivalirudin or UFH with or without GPIs at discretion of the operator...
March 20, 2018: Journal of the American College of Cardiology
Dennis T Ko, Harlan M Krumholz, Jack V Tu, Peter C Austin, Therese A Stukel, Maria Koh, Alice Chong, Jose Francisco de Melo, Cynthia A Jackevicius
BACKGROUND: Clopidogrel is one of the most commonly prescribed medications because of its ability to improve clinical outcomes for a broad range of cardiovascular conditions. After patent protection expired for Plavix in 2012, many healthcare systems adopted generic clopidogrel as a strategy to reduce healthcare costs. METHODS AND RESULTS: We conducted a population-based observational study to determine whether generic clopidogrel was noninferior to Plavix. Patients who were hospitalized with an acute coronary syndrome (ACS) from 2009 to 2014 in Ontario, Canada, >65 years, survived ≥7 days after discharge, were eligible for inclusion...
March 2018: Circulation. Cardiovascular Quality and Outcomes
Jessica R Zolton, Toral P Parikh, Dennis D Hickstein, Steven M Holland, Micah J Hill, Alan H DeCherney, Erin F Wolff
PURPOSE: To describe controlled ovarian stimulation (COS) in a population of women with GATA2 deficiency, a genetic bone marrow failure syndrome, prior to allogeneic hematopoietic stem cell transplant METHODS: This is a retrospective case series of nine women with GATA2 deficiency who underwent oocyte preservation at a research institution. Main outcomes measured include baseline fertility characteristics ((antimullerian hormone (AMH) and day 3 follicle-stimulating hormone (FSH) and estradiol (E2)) and total doses of FSH and human menopausal gonadotropins (HMG), E2 on day of trigger, and total number of metaphase II oocytes retrieved...
March 13, 2018: Journal of Assisted Reproduction and Genetics
Brenda C M De Winter, Dennis A Hesselink, Nassim Kamar
Hepatitis E virus (HEV) is the most common cause of viral hepatitis worldwide. Genotypes 1 and 2 (GT1 and GT2) are mainly present in developing countries, while GT3 and GT4 are prevalent in developed and high-income countries. In the majority of cases, HEV causes a self-limiting hepatitis. GT3 and GT4 can be responsible for a chronic hepatitis that can lead to cirrhosis in immunocompromized patients, i.e. solid-organ- and stem-cell-transplant-patients, human immunodeficiency virus-infected patients, and patients receiving chemotherapy or immunotherapy...
February 27, 2018: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
Malke Asaad, Samita Goyal, Kristen A Klement, Arlen D Denny
Crouzon syndrome (CS) is one of the craniosynostosis syndromes that leads to early fusion of cranial sutures and increased intracranial pressure. Intracranial hypertension is a serious complication that may lead to vision loss and cognitive impairment. Early detection and management are necessary to prevent complications. The authors present a patient with CS who underwent posterior cranial vault reconstruction with internal distraction after multiple episodes of headache and papilledema. The patient was unaware of any loss of color vision before the surgery; however, he noted an improvement in his color vision after the surgery...
February 26, 2018: Journal of Craniofacial Surgery
Iris L A Bodewes, Shereen Al-Ali, Cornelia G van Helden-Meeuwsen, Naomi I Maria, Jessica Tarn, Dennis W Lendrem, Marco W J Schreurs, Eline C Steenwijk, Paul L A van Daele, Tim Both, Simon J Bowman, Bridget Griffiths, Wan-Fai Ng, Marjan A Versnel
Objective: To assess the relationships between systemic IFN type I (IFN-I) and II (IFN-II) activity and disease manifestations in primary SS (pSS). Methods: RT-PCR of multiple IFN-induced genes followed by principal component analysis of whole blood RNA of 50 pSS patients was used to identify indicator genes of systemic IFN-I and IFN-II activities. Systemic IFN activation levels were analysed in two independent European cohorts (n = 86 and 55, respectively) and their relationships with clinical features were analysed...
February 20, 2018: Rheumatology
Eduardo Pérez-Palma, Elmo Saarentaus, Marie Ravoet, Giancarlo V De Ferrari, Peter Nürnberg, Bertrand Isidor, Bernd A Neubauer, Dennis Lal
Objective: After the recent publication of the first patients with disease-associated missense variants in the GRIN2D gene, we evaluate the effect of copy number variants (CNVs) overlapping this gene toward the presentation of neurodevelopmental disorders (NDDs). Methods: We explored ClinVar (number of CNVs = 50,794) and DECIPHER (number of CNVs = 28,085) clinical databases of genomic variations for patients with copy number changes overlapping the GRIN2D gene at the 19q13...
February 2018: Neurology. Genetics
Jennifer J Johnston, Jasper J van der Smagt, Jill A Rosenfeld, Alistair T Pagnamenta, Abdulrahman Alswaid, Eva H Baker, Edward Blair, Guntram Borck, Julia Brinkmann, William Craigen, Vu Chi Dung, Lisa Emrick, David B Everman, Koen L van Gassen, Suleyman Gulsuner, Margaret H Harr, Mahim Jain, Alma Kuechler, Kathleen A Leppig, Donna M McDonald-McGinn, Ngoc Thi Bich Can, Amir Peleg, Elizabeth R Roeder, R Curtis Rogers, Lena Sagi-Dain, Julie C Sapp, Alejandro A Schäffer, Denny Schanze, Helen Stewart, Jenny C Taylor, Nienke E Verbeek, Magdalena A Walkiewicz, Elaine H Zackai, Christiane Zweier, Martin Zenker, Brendan Lee, Leslie G Biesecker
PurposeTo characterize the molecular genetics of autosomal recessive Noonan syndrome.MethodsFamilies underwent phenotyping for features of Noonan syndrome in children and their parents. Two multiplex families underwent linkage analysis. Exome, genome, or multigene panel sequencing was used to identify variants. The molecular consequences of observed splice variants were evaluated by reverse-transcription polymerase chain reaction.ResultsTwelve families with a total of 23 affected children with features of Noonan syndrome were evaluated...
February 22, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Ferdinand Vogt, Susanne Wicklein, Markus Gosch, Jürgen Jessl, Wolfgang Hitzl, Theodor Fischlein, Matthias Pauschinger, Steffen Pfeiffer, Dennis Eckner
Background: Frailty is a geriatric syndrome that can influence mortality and functional recovery after treatment of severe aortic stenosis (AS). The integration of standardized geriatric assessment (GA) in clinical practice is limited by a lack of consensus on how to measure it. Objectives: This study aims to compare the incremental predictive value of different frailty scales to predict the outcomes following surgical aortic valve replacement, transcatheter aortic valve implantation, and conservative treatment of severe AS...
2018: Clinical Interventions in Aging
Guofu Shen, Schuyler Link, Sandeep Kumar, Derek M Nusbaum, Dennis Y Tse, Yingbin Fu, Samuel M Wu, Benjamin J Frankfort
Elevated intracranial pressure (ICP) can result in multiple neurologic sequelae including vision loss. Inducible models of ICP elevation are lacking in model organisms, which limits our understanding of the mechanism by which increased ICP impacts the visual system. We adapted a mouse model for the sustained elevation of ICP and tested the hypothesis that elevated ICP impacts the optic nerve and retinal ganglion cells (RGCs). ICP was elevated and maintained for 2 weeks, and resulted in multiple anatomic changes that are consistent with human disease including papilledema, loss of physiologic cupping, and engorgement of the optic nerve head...
February 12, 2018: Scientific Reports
Dominik Linz, Mathias Hohl, Adrian D Elliott, Dennis H Lau, Felix Mahfoud, Murray D Esler, Prashanthan Sanders, Michael Böhm
Renal afferent and efferent sympathetic nerves are involved in the regulation of blood pressure and have a pathophysiological role in hypertension. Additionally, several conditions that frequently coexist with hypertension, such as heart failure, obstructive sleep apnea, atrial fibrillation, renal dysfunction, and metabolic syndrome, demonstrate enhanced sympathetic activity. Renal denervation (RDN) is an approach to reduce renal and whole body sympathetic activation. Experimental models indicate that RDN has the potential to lower blood pressure and prevent cardio-renal remodeling in chronic diseases associated with enhanced sympathetic activation...
February 10, 2018: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
Veronica A Preda, Marina Chitoni, Dennis Talbot, Nicholas Reed, Ashley B Grossman
PURPOSE: Primary ovarian neuroendocrine tumors (NETs) develop in pure form or in association with other tumors, mainly teratomas. The available data regarding this rare condition are limited. Much of the literature focuses on single case reports, previously dismissed as a totally benign disorder, and thus long-term considerations and evidence-based management guidelines are lacking. The objective of the current study was to describe the clinical and pathologic characteristics and the effect of various therapeutic modalities on patient morbidity and mortality from 2 major centers...
March 2018: International Journal of Gynecological Cancer
Jennifer S Gewandter, Jenna Chaudari, Katarzyna B Iwan, Rachel Kitt, Sawsan As-Sanie, Gloria Bachmann, Quentin Clemens, H Henry Lai, Frank Tu, G Nicholas Verne, Katy Vincent, Ursula Wesselmann, QiQi Zhou, Dennis C Turk, Robert H Dworkin, Shannon M Smith
Chronic pain conditions occurring in the lower abdomen and pelvis are common, often challenging to manage, and can negatively affect health-related quality of life. Methodological challenges in designing randomized clinical trials (RCTs) for these conditions likely contributes to the limited number of available treatments. The goal of this systematic review of RCTs of pharmacologic treatments for irritable bowel syndrome and 3 common chronic pelvic pain conditions are to (1) summarize the primary endpoints and entry criteria and (2) evaluate the clarity of reporting of important methodological details...
February 2, 2018: Journal of Pain: Official Journal of the American Pain Society
Mark Parta, Nirali N Shah, Kristin Baird, Hind Rafei, Katherine R Calvo, Thomas Hughes, Kristen Cole, Meg Kenyon, Bazetta Blacklock Schuver, Jennifer Cuellar-Rodriguez, Christa S Zerbe, Steven M Holland, Dennis D Hickstein
Allogeneic hematopoietic stem cell transplantation (HSCT) reverses the bone marrow failure syndrome due to GATA2 deficiency. The intensity of conditioning required to achieve reliable engraftment and prevent relapse remains unclear. Here, we describe the results of a prospective study of HSCT in 22 patients with GATA2 deficiency using a busulfan-based conditioning regimen. The study includes 2 matched related donor (MRD) recipients, 13 matched unrelated donor (URD) recipients, and 7 haploidentical related donor (HRD) recipients...
February 2, 2018: Biology of Blood and Marrow Transplantation
Kenneth A Myers, Amelia McGlade, Bernd A Neubauer, Dennis Lal, Samuel F Berkovic, Ingrid E Scheffer, Michael S Hildebrand
BACKGROUND: KANSL1 haploinsufficiency causes Koolen-de Vries syndrome (KdVS), characterized by dysmorphic features and intellectual disability; amiable personality, congenital malformations and seizures also commonly occur. The epilepsy phenotypic spectrum in KdVS is broad, but most individuals have focal seizures with some having a phenotype resembling the self-limited focal epilepsies of childhood (SFEC). We hypothesized that variants in KANSL1 contribute to pathogenesis of SFEC. MATERIALS AND METHODS: We screened KANSL1 for single nucleotide variants in 90 patients with SFEC...
2018: PloS One
Simone Mangelsdorf, Wendy Kelso, Dennis Velakoulis, Mark Walterfang
Herpes simplex virus encephalitis (HSVE) commonly presents with severe amnesia due to virus-mediated destruction of key regions in the temporal lobes, although language and executive impairment has been described. Little is known however of the long-term cognitive changes in these patients, including changes that may happen with cortical reorganization. We describe a patient with HSVE who presented with a highly unusual late-onset language syndrome, which may reflect distal cortical changes after her original injury...
January 19, 2018: Neurocase
Rachel Wells, Andrew J Spurrier, Dominik Linz, Celine Gallagher, Rajiv Mahajan, Prashanthan Sanders, Amanda Page, Dennis H Lau
Postural tachycardia syndrome (POTS) is the combination of an exaggerated heart rate response to standing, in association with symptoms of lightheadedness or pre-syncope that improve when recumbent. The condition is often associated with fatigue and brain fog, resulting in significant disruptions at a critical time of diagnosis in adolescence and young adulthood. The heterogeneity of the underlying pathophysiology and the variable response to therapeutic interventions make management of this condition challenging for both patients and physicians alike...
2018: Vascular Health and Risk Management
Martin Zenker, Sigrid Tinschert, Ilse Wieland, Denny Schanze, Rudolf Happle
No abstract text is available yet for this article.
January 16, 2018: Acta Dermato-venereologica
Megha M Tollefson, Holly K Van Houten, Dennis Asante, Xiaoxi Yao, Hilal Maradit Kremers
Importance: Children with psoriasis are at increased risk for comorbidities. Many children with psoriasis are also overweight or obese; it is unknown whether the increased risk of comorbidities in these children is independent of obesity. Objective: To determine the risk of elevated lipid levels (hyperlipidemia/hypertriglyceridemia), hypertension, metabolic syndrome, polycystic ovarian syndrome, diabetes, nonalcoholic liver disease, and elevated liver enzyme levels in children with and without psoriasis, after accounting for obesity...
January 10, 2018: JAMA Dermatology
Katie D White, Riichiro Abe, Michael Ardern-Jones, Thomas Beachkofsky, Charles Bouchard, Bruce Carleton, James Chodosh, Ricardo Cibotti, Robert Davis, Joshua C Denny, Roni P Dodiuk-Gad, Elizabeth N Ergen, Jennifer L Goldman, James H Holmes, Shuen-Iu Hung, Mario E Lacouture, Rannakoe J Lehloenya, Simon Mallal, Teri A Manolio, Robert G Micheletti, Caroline M Mitchell, Maja Mockenhaupt, David A Ostrov, Rebecca Pavlos, Munir Pirmohamed, Elena Pope, Alec Redwood, Misha Rosenbach, Michael D Rosenblum, Jean-Claude Roujeau, Arturo P Saavedra, Hajirah N Saeed, Jeffery P Struewing, Hirohiko Sueki, Chonlaphat Sukasem, Cynthia Sung, Jason A Trubiano, Jessica Weintraub, Lisa M Wheatley, Kristina B Williams, Brandon Worley, Wen-Hung Chung, Neil H Shear, Elizabeth J Phillips
Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) is a life-threatening, immunologically mediated, and usually drug-induced disease with a high burden to individuals, their families, and society with an annual incidence of 1 to 5 per 1,000,000. To effect significant reduction in short- and long-term morbidity and mortality, and advance clinical care and research, coordination of multiple medical, surgical, behavioral, and basic scientific disciplines is required. On March 2, 2017, an investigator-driven meeting was held immediately before the American Academy of Dermatology Annual meeting for the central purpose of assembling, for the first time in the United States, clinicians and scientists from multiple disciplines involved in SJS/TEN clinical care and basic science research...
January 2018: Journal of Allergy and Clinical Immunology in Practice
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