Results 221 to 230 of about 390,111 (338)

High Proportion of PNH Type II Neutrophils Is Associated With Thrombosis in Patients Displaying a PNH Clone ≥ 1%

American Journal of Hematology, EarlyView.
ABSTRACT The clinical significance of PNH Type II white blood cells (WBCs) remains unclear. We assessed the relative percentage (rel%) of Type II neutrophils in 355 patients with a PNH clone ≥ 1% on neutrophils enrolled by 33 flow cytometry laboratories in the 5‐year French nation‐wide multicenter prospective observational study.
Orianne Wagner‐Ballon, Anne‐Catherine Lhoumeau, Anna Raimbault, Camille Debord, Jean‐Philippe Vial, Valérie Soenen, Mélanie Pannetier, Edouard Bonneville, Elsa Bera, Caroline Bret, Nicolas Chapuis, Véronique Latger‐Cannard, Caroline Mayeur‐Rousse, Véronique Harrivel, François Vergez, Marie Loosveld, Juliette Vo Xuan, Stéphanie Mathis, Gérard Socié, Flore Sicre de Fontbrune, Régis Peffault de Latour, Bernard Drenou, Agathe Debliquis, Magali Le Garff‐Tavernier, on behalf of the French PNH working group CytHem‐HPN, Thomas Boyer, Mikaël Roussel, Marie Guillon, Sabrina Bouyer, Isabelle Kittler, Franck Geneviève, Julien Guy, Sophie Brun, Claude Capron, Sébastien Lachot, Francine Garnache‐Ottou, Richard Veyrat‐Masson, Corine Brunet, Caren Brumpt, Ludovic Lhermitte. Finally, Louis Terriou, Nicolas Blin   +41 more
wiley   +1 more source

Patient with longstanding mpox keratitis successfully treated with topical Cidofovir 0.5% eye drops: a case report. [PDF]

BMC Ophthalmol
Otiti-Sengeri J, Mugisha D, Ngoma DB, Lusobya RC, Atukunda I, Colebunders R.   +5 more
europepmc   +1 more source

Congenital disorder of glycosylation Ib (CDG-Ib)

, 2005
Congenital Disorders of Glycosylation (CDG) sind eine Gruppe hereditärer Störungen der N-Glykosylierung. Gemeinsames Charakteristikum dieser Multisystemerkrankungen ist eine psychomotorische Retardierung. Eine Ausnahme bildet das im Rahmen dieser Arbeit entdeckte CDG-Ib. Hauptmerkmal dieser rezessiv vererbten Erkrankung ist eine exsudative Enteropathie.
openaire  

Essential, Yet Precarious, Mistreated, Sick and Medicalized: A Sequential Explanatory Mixed‐Methods Study on Homecare Aides in Spain

American Journal of Industrial Medicine, EarlyView.
ABSTRACT Background Homecare aides (HCAs) are professional non‐family caregivers, who support dependent individuals to live at home with dignity; yet in Spain they remain understudied and vulnerable, often facing precarious working conditions. We aimed to characterize HCAs’ employment, living conditions, health, and exposure to workplace violence and ...
Albert Navarro‐Giné, Pedro Ferrer‐Rosende, Maria Feijoo‐Cid, Sergio Salas‐Nicás, Laura Esteve‐Matalí, Valeria Stuardo‐Ávila, María Isabel Fernández‐Cano   +6 more
wiley   +1 more source

A new species of <i>Occidozyga</i> (Amphibia, Anura, Dicroglossidae) and new records of <i>O. lingnanica</i> from Central Vietnam. [PDF]

Zookeys
Ninh HT, Nguyen TT, Nguyen HH, Pham CT, Hoang CV, Nguyen VHT, Do DT, Nguyen TQ, Orlov N, Ziegler T.   +9 more
europepmc   +1 more source

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao, Andrew P. Fennell, Tanavi Sharma, Katrina M. Bell, Monique Dunstan, Sebastian Lunke, Meagan J. McGrath, Catriona McLean, Undiagnosed Diseases Network (UDN‐Aus), Alison Yeung, Anna Hackett, Anne Baxter, Ansley Morrish, Ashil Davawala, Azure Hermes, Ben Kamien, Ben Lundie, Carolyn Ellaway, Carolyn Shalhoub, Cas Simons, Cassandra Gray, Cathryn Poulton, Chloe Cunningham, Chris Barnett, Chris Richmond, Christopher Richards, Daniel MacArthur, Daniel Pavlic, Daniella Hock, Daniz Kooshavar, David Amor, David Mowat, Edward Formaini, Elaine Zhang, Ella Wilkins, Ella Zurita, Ellenore Martin, Elly Lynch, Emma Krzesinski, Emma Palmer, Esther Pierini, Evanthia O. Madelli, Francisco Santos Gonzalez, Gareth Baynam, Gunjan Garg, Hamish Scott, Hannah Thomson, Himanshu Goel, Ilias Goranitis, Ira Deveson, Isabella Pfundt, Jacqui Russell, Janine Smith, Jason Pinner, Julia Broadbent, Julie McGaughran, Karin Kassahn, Katherine Lewis, Kaustuv Bhattacharya, Kirsten Boggs, Kirsty West, Kristi Jones, Laura Wedd, Lauren Dreyer, Leah Frajman, Leanne Baxter, Lilian Downie, Lily Loughman, Lisa Bristowe, Lisa Ewans, Louise Cilento, Lucy Kevin, Lyndal Douglas, Madeleine Harris, Maie Walsh, Manisha Chauhan, Margit Shah, Martin Delatycki, Mathew Wallis, Matthew Hunter, Megan Ball, Megan Higgins, Meutia Kumaheri, Michael Fahey, Mike Field, Mohammadreza Hajjari, Natalie Stewart, Natalie Tan, Natasha Brown, Nicole Van Bergen, Noelia Nunez‐Martinez, Oliver Heath, Rachel Austin, Rani Sachdev, Rebecca Macintosh, Rebecca Vink, Rocio Rius, Ruvi Samarasekera, Ryan Pysar, Sandra Cooper, Sarah Casauria, Sarah Collinson, Sarah Jelenich, Sarah Josephi‐Taylor, Sarah Sandaradura, Sean Massey, Shannon Leblanc, Shuxiang Goh, Simon Bodek, Simon Sadedin, Simran Kaur, Smitha Kumble, Sue White, Suzanne Sallevelt, Tegan Stait, Tiffany Boughtwood, Tim Sikora, Timo Lassmann, Tiong Tan, Tracy Dudding, David R. Thorburn, David A. Stroud, John Christodoulou   +122 more
wiley   +1 more source

Subregional activity in the dentate gyrus is amplified during elevated cognitive demands. [PDF]

Elife
Castillon CCM, Otsuka S, Armstrong JN, Contractor A.   +3 more
europepmc   +1 more source

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi, Noa Bouzaglo, Victoria Castillo Sanchez, Johanna I. P. de‐Vries, Klaus Dieterich, Alicja Fafara, Isabel Filges, Philip Giampietro, Göknur Haliloğlu, Judith Hall, Coleman Hilton, Remco Jansen, Valentina Maestri, Carolina Navalon, Daniel Natera de Benito, Tony Pan, Ani Samargian, Bonita Sawatzky, Harold van Bosse, Paul A. Trainor, Noémi Dahan‐Oliel   +20 more
wiley   +1 more source

Introduction. Changing media - changing Europe:Interdisciplinary and Dynamic research agenda [PDF]

, 2004
Bondebjerg, Ib, Golding, Peter
core  

The E3 ligase β-TRCP1 earmarks OTUD3 for destruction to fine-tune cGAS activation. [PDF]

J Biol Chem
Chen J, Sivashankar S, Wang Y, Liu P.
europepmc   +1 more source