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Severe aplastic anemia with acquired X chromosome clonality as a sole abnormality.
Ann Hematol
December 2024
Department of Medicine, Division of Hematology/Oncology, University of Florida College of Medicine, Gainesville, FL, USA.
This case is a rare presentation of severe aplastic anemia in a 31-year-old male with acquired clonality of the X chromosome as the sole cytogenetic abnormality. This abnormality has not been reported to our knowledge, and the significance of this finding remains unclear. Comprehensive diagnostic workup included bone marrow biopsy, cytogenetic analysis, and Next-Generation sequencing, which revealed no tier I/II variants typically associated with clonal hematopoietic disorders.
View Article and Find Full Text PDFAdjunctive effects of eltrombopag on immunosuppressive therapy for childhood aplastic anemia.
Int J Hematol
December 2024
Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Eltrombopag is used with first-line immunosuppressive therapy for adult aplastic anemia, although its practical utility in childhood remains unclear. We retrospectively analyzed the outcomes of pediatric patients who received eltrombopag in Japan. Of the 27 eligible patients, 23 (85%) were previously treated, and 15 (56%) had severe or very-severe disease.
View Article and Find Full Text PDFALDH Enzymes and Hematological Diseases: A Scoping Review of Literature.
Discov Med
December 2024
Department of Biological Hematology, Tours University Hospital, 37000 Tours, France.
Aldehyde dehydrogenases (ALDHs) constitute a group of enzymes that catalyze the oxidation of aldehydes to carboxylic acids. The human ALDH superfamily, including 19 different isoenzymes (ALDH1A1, ALDH1A2, ALDH1A3, AHDH1B1, ALDH1L1, ALDH1L2, ALDH2, ALDH3A1, ALDH3A2, ALDH3B1, ALDH3B2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDH8A1, ALDH9A1, ALDHA16A1, ALDH18A1), displays different key physiological and toxicological functions, with specific tissue expression and substrate specificity. Several studies have established that ALDH are interesting markers for the identification and quantification of human hematopoietic stem cells and cancer stem cells, notably leukemic stem cells.
View Article and Find Full Text PDFFelbamate as a therapeutic alternative to drug-resistant genetic generalized epilepsy: a systematic review and meta-analysis.
Neurol Sci
December 2024
The Division of Neurology at Nemours, Mayo Clinic, Jacksonville, FL, 32207, USA.
Introduction: The effect of felbamate (FBM) on genetic generalized epilepsy (GGE) remains largely unknown. The utilization of FBM has been limited due to its potential risk of aplastic anemia and hepatic failure. This study aimed to comprehensively evaluate the efficacy and safety of FBM in the treatment of drug-resistant GGE.
View Article and Find Full Text PDFSex-Biased CD3ζ 3'-UTR SNP Increased Incidence Risk in Aplastic Anemia.
Int J Gen Med
December 2024
Institute of Hematology, School of Medicine, Jinan University, Guangzhou, People's Republic of China.
Purpose: Aplastic anemia (AA) is a bone marrow failure syndrome with an unclear pathogenesis. Abnormal T cell immunity is one of the mechanisms involved in AA, and CD3ζ is an important signaling molecule for T cell activation. Single-nucleotide polymorphisms (SNPs) in CD3ζ 3'-untranslated region (3'-UTR) were associated with some immune-related disease occurrence and affect CD3ζ protein level.
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