Results 41 to 50 of about 413,499 (385)

Romiplostim use in pregnant women with immune thrombocytopenia

American Journal of Hematology, Volume 98, Issue 1, Page 31-40, January 2023., 2023
Abstract Treatment for immune thrombocytopenia (ITP) in pregnancy is hampered by the lack of fetal safety evidence of maternally‐administered medications. The Pregnancy Surveillance Program (PSP) collected patient information from 2017–2020 for pregnancy, birth outcomes, and adverse events (AEs) for 186 women exposed to romiplostim from 20 days before ...
James B. Bussel, Nichola Cooper, Tatiana Lawrence, Marc Michel, Emilie Vander Haar, Kejia Wang, Hongmei Wang, Hossam Saad   +7 more
wiley   +1 more source

Peripartum Cardiomyopathy

Journal of Education and Teaching in Emergency Medicine, 2023
This simulation is appropriate for emergency medicine (EM) residents of all levels.Peripartum cardiomyopathy (PPCM) is a rare, idiopathic condition that occurs in the mother around the time of childbirth. Heart failure with reduced ejection fraction and/or reduced systolic function diagnosed in patients during the last month of pregnancy or up to five ...
Morris, Victoria L, Mendoza, Carolina, Stevens, Gowri S, Wilson, Jessica L, Kosoko, Adeola A   +4 more
openaire   +3 more sources

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 445-458, February 2023., 2023
Abstract Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1.
Clémence Jacquin, Emilie Landais, Céline Poirsier, Alexandra Afenjar, Ahmad Akhavi, Nathalie Bednarek, Caroline Bénech, Adeline Bonnard, Damien Bosquet, Lydie Burglen, Patrick Callier, Sandra Chantot‐Bastaraud, Christine Coubes, Charles Coutton, Bruno Delobel, Margaux Descharmes, Jean‐Michel Dupont, Vincent Gatinois, Nicolas Gruchy, Sarah Guterman, Abdelkader Heddar, Lucas Herissant, Delphine Heron, Bertrand Isidor, Pauline Jaeger, Guillaume Jouret, Boris Keren, Paul Kuentz, Cedric Le Caignec, Jonathan Levy, Nathalie Lopez, Zoe Manssens, Dominique Martin‐Coignard, Isabelle Marey, Cyril Mignot, Chantal Missirian, Céline Pebrel‐Richard, Lucile Pinson, Jacques Puechberty, Sylvia Redon, Damien Sanlaville, Marta Spodenkiewicz, Anne‐Claude Tabet, Alain Verloes, Gaelle Vieville, Catherine Yardin, François Vialard, Martine Doco‐Fenzy   +47 more
wiley   +1 more source

Contemporary Insights Into the Genetics of Hypertrophic Cardiomyopathy: Toward a New Era in Clinical Testing?

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2020
Genetic testing for hypertrophic cardiomyopathy (HCM) is an established clinical technique, supported by 30 years of research into its genetic etiology.
Francesco Mazzarotto, Iacopo Olivotto, Beatrice Boschi, Francesca Girolami, Corrado Poggesi, Paul J. R. Barton, Roddy Walsh   +6 more
doaj   +1 more source

Mitochondrial Cardiomyopathies [PDF]

Frontiers in Cardiovascular Medicine, 2016
Mitochondria are found in all nucleated human cells and perform various essential functions, including the generation of cellular energy. Mitochondria are under dual genome control. Only a small fraction of their proteins are encoded by mitochondrial DNA (mtDNA), whereas more than 99% of them are encoded by nuclear DNA (nDNA).
El-Hattab, Ayman W., Scaglia, Fernando
openaire   +3 more sources

Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 469-478, February 2023., 2023
Abstract The non‐POU domain‐containing octamer‐binding (NONO) protein is involved in multiple steps of gene regulation such as RNA metabolism and DNA repair. Hemizygous pathogenic variants in the NONO gene were confirmed to cause a rare X‐linked syndromic disorder. Through our in‐house diagnostics and subsequent matchmaking, we identified six unrelated
Franziska Roessler, Anita E. Beck, Ball Susie, Bartolomaeus Tobias, Amber Begtrup, Saskia Biskup, Oana Caluseriu, Norman Delanty, Christine Fröhlich, Marie T. Greally, Maike Karnstedt, Chiara Klöckner, Joanne Kurtzberg, Susanna Schubert, Martin Schulze, Michael Weidenbach, Dominik S. Westphal, Maire White, Cordula M. Wolf, Jacob Zyskind, Bernt Popp, Vincent Strehlow   +21 more
wiley   +1 more source

Subcutaneous Implantable Cardioverter Defibrillator in Patients With Hypertrophic Cardiomyopathy: An Initial Experience

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2016
BackgroundThe subcutaneous implantable cardioverter defibrillator (S‐ICD) has been developed to avert risks associated with transvenous defibrillator leads. The technology is attractive for younger patients, such as those with hypertrophic cardiomyopathy
Jonathan Weinstock, Yousef H. Bader, Martin S. Maron, Ethan J. Rowin, Mark S. Link   +4 more
doaj   +1 more source

2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy: Executive Summary: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines.

Circulation, 2020
Aim This executive summary of the hypertrophic cardiomyopathy clinical practice guideline provides recommendations and algorithms for clinicians to diagnose and manage hypertrophic cardiomyopathy in adult and pediatric patients as well as supporting ...
S. Ommen, S. Mital, Michael A. Burke, S. Day, A. Deswal, P. Elliott, Lauren L. Evanovich, J. Hung, J. Joglar, P. Kantor, C. Kimmelstiel, M. Kittleson, M. Link, M. Maron, Matthew W. Martinez, C. Miyake, H. Schaff, C. Semsarian, Sorajja Paul   +18 more
semanticscholar   +1 more source

Cirrhotic Cardiomyopathy

Journal of the American College of Cardiology, 2010
Cirrhotic cardiomyopathy is a clinical syndrome in patients with liver cirrhosis characterized by an abnormal and blunted response to physiologic, pathologic, or pharmacologic stress but normal to increased cardiac output and contractility at rest. As many as 50% of cirrhotic patients undergoing liver transplantation show signs of cardiac dysfunction ...
Enrico M, Zardi, Antonio, Abbate, Domenico Maria, Zardi, Aldo, Dobrina, Domenico, Margiotta, Benjamin W, Van Tassell, Benjamin W, Van Tassel, Antonella, Afeltra, Arun J, Sanyal   +8 more
openaire   +4 more sources

Prevalence of anxiety and depression symptoms in a sample of outpatients with ATTR cardiac amyloidosis

Frontiers in Psychology, 2023
Patients with ATTR cardiac amyloidosis (ATTR-CA) face rare disease that could negatively influence psychological well-being with consequences on the course of the disease and quality of life.
Martina Smorti, Lucia Ponti, Lucia Ponti, Francesco Soffio, Alessia Argirò, Alessia Argirò, Federico Perfetto, Federico Perfetto, Mattia Zampieri, Mattia Zampieri, Carlotta Mazzoni, Alessia Tomberli, Marco Allinovi, Carlo Di Mario, Iacopo Olivotto, Francesco Cappelli, Francesco Cappelli   +16 more
doaj   +1 more source