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Somatic mutations and DNA methylation identify a subgroup of poor prognosis within lower-risk myelodysplastic syndromes.
Hemasphere
January 2025
Université Paris Cité, Institut Cochin, INSERM U1016, CNRS UMR8104 Assistance Publique-Hôpitaux de Paris.Centre, Laboratory of Hematology, Hôpital Cochin Paris France.
Lower risk (LR) myelodysplastic syndromes (MDS) are heterogeneous hematopoietic stem and progenitor disorders caused by the accumulation of somatic mutations in various genes including epigenetic regulators that may produce convergent DNA methylation patterns driving specific gene expression profiles. The integration of genomic, epigenomic, and transcriptomic profiling has the potential to spotlight distinct LR-MDS categories on the basis of pathophysiological mechanisms. We performed a comprehensive study of somatic mutations and DNA methylation in a large and clinically well-annotated cohort of treatment-naive patients with LR-MDS at diagnosis from the EUMDS registry (ClinicalTrials.
View Article and Find Full Text PDFInfantile epileptic spasms syndrome: an etiologic study of 361 patients with infantile epileptic spasms syndrome.
Front Pediatr
January 2025
Cheeloo College of Medicine, Shandong University, Jinan, Shandong, China.
Introduction: Infantile Epileptic Spasms Syndrome (IESS) typically has a profound impact on the neurodevelopment of patients. The study on IESS indicates possible geographical variation in etiology and a lack of data from China. Our study intends to summarize the etiology of IESS and analyze its characteristics.
View Article and Find Full Text PDFLife-threatening spontaneous splenic rupture in congenital afibrinogenemia: Two case reports and systematic literature review.
J Forensic Leg Med
January 2025
Department of Legal Medicine, Teaching Hospital of Taher Sfar, 5100, Mahdia, Tunisia; Faculty of Medicine of Monastir, University of Monastir, Tunisia.
Background: Spontaneous splenic rupture is a rare life-threatening finding with a challenging diagnosis which is largely ignored in the literature. Hematological disorders such as afibrinogenemia are reported to cause bleeding disorders mostly cerebral hemorrhage. Despite being a life-threatening condition, data about spontaneous splenic rupture in patients with Afibrinogenemia remain scarce.
View Article and Find Full Text PDFComparison of autologous hematopoietic cell transplantation, matched sibling donor hematopoietic cell transplantation, and chemotherapy in patients with favorable- and intermediate-risk acute myeloid leukemia.
Front Immunol
January 2025
State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, China.
Introduction: Hematopoietic stem cell transplantation (HSCT) and chemotherapy are considered potentially curative options for post-remission therapy in acute myeloid leukemia (AML). However, the comparative effectiveness of these approaches in favorable- and intermediate-risk AML remains unclear and requires further investigation.
Methods: In this retrospective study, 111 patients diagnosed with de novo favorable- and intermediate-risk AML, categorized according to the ELN 2022 guidelines, were investigated to compare outcomes following autologous HSCT (auto-HSCT), matched sibling donor HSCT (MSD-HSCT), and chemotherapy.
Background: Type 2 diabetes mellitus (T2DM) is a metabolic disorder characterized by chronic hyperglycemia, mostly resulting from impaired insulin production and diminished glucose metabolism regulation. Qiwei Baizhu San (QWBZS) is a classic formula used in traditional Chinese medicine for the treatment of T2DM. A comprehensive analysis of the efficacy and safety of QWBZS in the treatment of T2DM is essential.
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