Results 51 to 60 of about 116,210 (265)

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Chronic Severe Neutropenia Associated With Intravenous Immunoglobulin for Multifocal Motor Neuropathy

eJHaem
Intravenous immunoglobulin (IVIG) is an immunomodulatory therapy derived from pooled donor immunoglobulins and used for treatment of various autoimmune conditions.
Shannon Ugarte, Talia Gebhard, David R. Cornblath, Steven S. Scherer, Daria V. Babushok   +4 more
doaj   +1 more source

Kejadian Demam Neutropenia pada Anak dengan Keganasan

Sari Pediatri, 2018
Latar belakang. Demam merupakan salah satu manifestasi awal dari infeksi berat, terutama selama periode neutropenia. Infeksi menjadi penyebab utama morbiditas dan mortalitas pada pasien kanker.
Sarah Rafika Nursyirwan, Endang Windiastuti   +1 more
doaj   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Febrile neutropenia in chemotherapy treated small-cell lung cancer patients

Radiology and Oncology, 2015
Background. Chemotherapy with platinum agent and etoposide for small-cell lung cancer (SCLC) is supposed to be associated with intermediate risk (10-20%) of febrile neutropenia.
Kukec Renata Rezonja, Grabnar Iztok, Vovk Tomaz, Mrhar Ales, Kovac Viljem, Cufer Tanja   +5 more
doaj   +1 more source

THE PHENOMENON OF NEUTROPENIA DURING TOCILIZUMAB THERAPY IN PATIENTS WITH JUVENILE IDIOPATHIC ARTHRITIS

Научно-практическая ревматология, 2018
Tocilizumab (TCZ) is one of the biological agents that are most commonly used in the treatment of juvenile idiopathic arthritis (JIA), especially its systemic variant.
M. I. Kaleda, I. P. Nikishina, A. N. Shapovalenko, O. M. Kostareva, E. S. Fedorov   +4 more
doaj   +1 more source

USB1 deficiency disrupts neutrophil maturation via RNA dysregulation independent of global pre‐mRNA splicing

Animal Models and Experimental Medicine, EarlyView.
This graphical abstract illustrates the essential role of USB1 in neutrophil maturation. In normal myeloid cells, USB1 acts as an RNA exonuclease, trimming RNA tails to maintain proper RNA network function, which supports the differentiation of myeloid progenitor cells into mature neutrophils.
Hang Li, Guiying Shi, Jiaming Tang, Yiying Huang, Jie Wang, Xuepei Lei, Lin Bai   +6 more
wiley   +1 more source

Level of Knowledge and Incidence of Emergency Oncology: Febrile Neutropenia in Hematologic Cancer Patients Post Chemotherapy: A Descriptive Study

Masker Medika
Introduction: Febrile neutropenia is a life-threatening condition that is the most common oncological emergency, especially in cases of hematological cancer. Knowledge related to this condition can accelerate treatment and reduce mortality. The danger of
Agus Suryaman
doaj   +1 more source

Two Years of Ocrelizumab Treatment in Black and Hispanic People with Multiple Sclerosis in CHIMES: A Single‐Arm Clinical Trial

Annals of Neurology, EarlyView.
Objective To evaluate the effectiveness and safety of ocrelizumab in self‐identified black and Hispanic people with relapsing multiple sclerosis. Methods The Characterization of Ocrelizumab in Minorities with Multiple Sclerosis (CHIMES) trial, a prospective, open‐label, single‐arm, phase 4 study, intentionally recruited underrepresented populations in ...
Lilyana Amezcua, Anthony T. Reder, Evanthia Bernitsas, Nancy L. Monson, Timothy Vartanian, Gregory F. Wu, Mansoor Saleh, Annette Okai, Ahmed Z. Obeidat, Dilraj Sokhi, Rikisha Parekh, Jinglan Pei, Christopher Harp, David Clayton, Ibraheem Abioye, Mitzi J. Williams, for the CHIMES Study Group   +16 more
wiley   +1 more source

First‐Line Osimertinib in Patients with EGFR‐Mutant Advanced Non‐Small Cell Lung Cancer: Outcome and Safety in the Real World: FLOWER Study

The Oncologist, EarlyView., 2021
Abstract Lessons Learned Osimertinib has confirmed effectiveness in this real‐world population of patients with EGFR‐mutant advanced non‐small cell lung cancer. Thromboembolic events occur more frequently than previously reported, suggesting a thrombotic diathesis that requires further investigation. Patients with at least three metastatic sites, brain
Martina Lorenzi, Alessandra Ferro, Fabiana Cecere, Daniela Scattolin, Alessandro Del Conte, Alessandro Follador, Sara Pilotto, Valentina Polo, Mariacarmela Santarpia, Rita Chiari, Alberto Pavan, Alessandro Dal Maso, Valentina Da Ros, Giada Targato, Sabrina Vari, Stefano Indraccolo, Fiorella Calabrese, Stefano Frega, Laura Bonanno, Pier Franco Conte, Valentina Guarneri, Giulia Pasello   +21 more
wiley   +1 more source