Results 101 to 110 of about 442,293 (268)

A novel homozygous variant in the ATP7B gene in a patient with Wilson’s disease: a case report

Frontiers in Medicine
In this article, we describe a case of a novel variant of the ATP7B gene identified in a boy of Short ethnicity with Wilson’s disease (WD). Wilson’s disease is a chronic autosomal recessive disorder caused by pathogenic variants in the ATP7B gene.
Valentina E. Shavrak, Irina Z. Zhalsanova, Elizaveta A. Fonova, Daria N. Erburova, Nikita A. Kolesnikov, Sergei S. Fomenko, Valeria V. Petrova, Gulnara N. Seitova, Vadim A. Stepanov, Nikolay A. Skryabin   +9 more
doaj   +1 more source

Development and Implementation of a Disease‐Targeted Storybook as a Clinical Tool for Children With Acute Leukemia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Although significant progress has been made in childhood leukemia survival, healthcare providers, and caregivers often face challenges in explaining this disease to patients. Disease‐targeted storybooks have been proposed as a tool to facilitate the understanding of diagnoses and treatment.
Nutvipha Ummartyotin, Usanarat Anurathapan, Rawiwan Roongpraiwan, Potchanee Dandamrongrak, Siriporn Nakhonchai, Pawin Numthavaj, Vilawan Chirdkiatgumchai   +6 more
wiley   +1 more source

Case Report: Cabezas syndrome caused by CUL4B gene mutations in two unrelated Chinese boys

Frontiers in Neuroscience
As a component of the ubiquitin ligase complex, Cullin 4B (CUL4B) is involved in the process of ubiquitination of different substrates, controlling genome stability, nucleotide excision repair, and chromatin-remodeling.
Li Lin, Li Lin, Qi Yang, Qi Yang, Shujie Zhang, Shujie Zhang, Xunzhao Zhou, Xunzhao Zhou, Xiaoling Li, Sheng Yi, Sheng Yi, Qiang Zhang, Qiang Zhang, Shang Yi, Shang Yi, Sheng He, Sheng He, Zailong Qin, Zailong Qin, Jingsi Luo, Jingsi Luo, Jingsi Luo   +21 more
doaj   +1 more source

Determining Parental Factors for Clinical Trial Attrition in Pediatric Acute Lymphoblastic Leukemia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background/Objectives Despite high enrollment rates on Children's Oncology Group (COG) protocols, attrition after initial consent is challenging, introducing bias and prolonging trial completion. While adult oncology literature has identified predictors of withdrawal, little is known about caregiver decision‐making for child participation in ...
Kimberly L. Stathas, Jakob Q. Weiss, Kellee N. Parker, Cathy Lee‐Miller   +3 more
wiley   +1 more source

Administering Blinatumomab via Continuous Intravenous Infusion in Pediatric Patients—A Single‐Institution Retrospective Review

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Blinatumomab, a CD19xCD3 bispecific T‐cell engager, has become standard therapy for children with de novo B‐cell acute lymphoblastic leukemia (B‐ALL). This retrospective review describes the experience of blinatumomab administration in pediatric patients.
Julia M. Hurley, Ryleigh Krueger, Kellie Joyce, James Stanley, Mary Waskerwitz‐Freyer, Marielle Klunder, David J. Hoogstra   +6 more
wiley   +1 more source

Evaluating the Readability of Patient‐Facing Online Educational Materials for Pediatric Leukemia and Lymphoma

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Together, leukemia and lymphoma account for 38.7% of newly diagnosed pediatric cancer cases in the United States each year. Many caregivers utilize online resources to inform medical health decisions. Understanding the readability of these materials is critical to ensuring comprehensible patient education.
Chloe Strege, Simone Intriago Tito, Courtney Popp, William C. Miller, Cindy Eide, Christen Ebens, Jakub Tolar   +6 more
wiley   +1 more source

Improvement of Sickle Cell Disease Care Mitigates the Healthcare Utilization Induced by Increased Prevalence: Experience of a Tertiary Pediatric Center

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Sickle cell disease (SCD) has undergone major changes in the last decades. Its prevalence has been steadily increasing and numerous advances have been made in the management of the disease. However, the effect in real‐life setting of these major changes is unknown, particularly in a Canadian environment. Procedure We aimed to assess
Maude Cigna, Alexia Muresan, Estelle Lecluze, Karine Leduc, Nathalie Fournier, Maria Tamer, Jean‐François Delisle, Jeremi Charbonneau, Annie Viau, Jessica Darilus, Marie‐Joëlle Doré‐Bergeron, Valérie Arsenault, Evelyne Doyon‐Trottier, Stéphanie Forte, Nancy Robitaille, Yves Pastore, Thomas Pincez   +16 more
wiley   +1 more source

Change in Mental Health and Resilience in Childhood Cancer Survivors After Attending a Person‐Centred State‐of‐the‐Art Late Effects Clinic—on Behalf of the PanCareFollowUp Consortium

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Person‐centred follow‐up care based on evidence‐based clinical practice guidelines and providing individualised information should help to inform and reassure survivors about their medical and psychosocial situation and provide treatment and support where needed.
Gisela Michel, Mieke Rijken, Marietta Kokla, Charlotte Sleurs, Jurgen Lemiere, Line Elmerdahl Frederiksen, Luzius Mader, Cecilia Follin, Sara Oberti, Jeanette Falck Winther, Selina R. van den Oever, Leontien C. M. Kremer, Helena J. H. van der Pal, Peter Spreeuwenberg, Eline Bouwman, Jeroen te Dorsthorst, Samira Essiaf, Elizabeth A. M. (Lieke) Feijen, Hannah Gsell, Riccardo Haupt, Maria van Helvoirt, Rosella P. M. G. Hermens, Lars Hjorth, Tomas Kepak, Katerina Kepakova, Anita Kienesberger, Monica Muraca, Marleen Renard, Carina Schneider, Roderick Skinner, Anne Uyttebroeck, Deveny Vanrusselt, Sabine Verschueren, Jacqueline Loonen, Saskia M. F. Pluijm, Katharina Roser, the PanCareFollowUp consortium   +36 more
wiley   +1 more source

Secretory Phospholipase A2 in Patients With Sickle Cell Disease Hospitalized for Vaso‐Occlusive Pain Episodes

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Secretory phospholipase A2 (sPLA2) is an inflammatory mediator linked to acute chest syndrome (ACS) in sickle cell disease (SCD), a serious complication that can develop during an acute vaso‐occlusive pain episode (VOE). Plasma sPLA2 levels have been proposed as a potential biomarker for predicting ACS onset.
Rawan Korman, Maria Yasmine, Dunia Hatabah, Noor Alzraikat, Frank Harris, Lou Ann Brown, Satheesh Chonat, Nitya Bakshi, Chris A. Rees, Carlton Dampier, Claudia R. Morris   +10 more
wiley   +1 more source

A Bibliometric Analysis of Publications in Uremic Toxins From 1991 to 2024

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Background Uremic toxins are a growing area of research in nephrology, with significant implications in the progression and treatment of chronic kidney disease (CKD) and the management of end‐stage kidney disease (ESKD). This bibliometric analysis aims to evaluate the global research trends, key contributors, and the impact of publications in ...
Yuh‐Shan Ho, Karim M. Soliman, Wisit Cheungpasitporn, Wannasit Wathanavasin, Ahmed Daoud, Ahmed I. Kamal, Balázs Szamosfalvi, Tibor Fülöp   +7 more
wiley   +1 more source