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JAGN1 (Jagunal-homolog1) is a ER-resident transmembrane protein which is part of the early secretory pathway and granulocyte colony-stimulating factor receptor mediated signaling. Autosomal recessively inherited variants in the JAGN1 gene lead to congenital neutropenia, early-onset bacterial infections, aphthosis and skin abscesses due to aberrant differentiation and maturation of neutrophils. In addition, bone metabolism disorders and a syndromic phenotype, including facial features, short stature and neurodevelopmental delay, have been reported in affected patients.
View Article and Find Full Text PDFDetection of Partial Tandem Duplication by Optical Genome Mapping in Myeloid Neoplasms: Associated Cytogenetics, Gene Mutations, Treatment Responses, and Patient Outcomes.
Cancers (Basel)
December 2024
Department of Hematopathology, MD Anderson Cancer Center, The University of Texas, Houston, TX 77030, USA.
partial tandem duplication (PTD) involves intragenic duplications and has been associated with poorer prognosis. In this study, we evaluated PTD in 1277 patients with hematological malignancies using optical genome mapping (OGM). PTD was detected in 35 patients with acute myeloid leukemia (AML) (7%), 5 patients with myelodysplastic syndrome (MDS) (2.
View Article and Find Full Text PDFBackground: Patients with secondary acute myeloid leukemia who previously received hypomethylating agents for prior myeloid neoplasms (HMA-sAML) face a dismal prognosis.
Methods: The authors analyze the characteristics, therapeutic approaches, and outcomes of patients with HMA-sAML from the Programa Español para el Tratamiento de Hemopatías Malignas (PETHEMA) registry.
Results: A total of 479 patients were included, mostly from prior myelodysplastic syndrome (84%).
Umbilical Amniotic Tissue Graft as an Alternative Approach for Eyelid Reconstruction After Necrotizing Fasciitis Debridement.
Ophthalmic Plast Reconstr Surg
January 2025
Department of Ophthalmology and Visual Sciences, University of Michigan W.K. Kellogg Eye Center, Ann Arbor, Michigan, U.S.A.
A 54-year-old female with myelodysplastic syndrome on chemotherapy presented with 10 days of periocular erythema and edema worsening on oral antibiotics. Computed Tomography scan showed periorbital soft tissue swelling without postseptal extension or abscess. Intravenous broad-spectrum antibiotics were administered.
View Article and Find Full Text PDFOutcomes of Patients With Treated Secondary Acute Myeloid Leukemia: A High-Risk Subtype That Warrants an Independent Prognostic Designation.
Am J Hematol
February 2025
Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
Patients who develop acute myeloid leukemia (AML) after having received treatment for myelodysplastic syndrome (MDS) or related conditions have particularly poor outcomes. This study analyzed adult patients with newly diagnosed AML who previously had MDS, chronic myelomonocytic leukemia (CMML), or MDS/myeloproliferative neoplasm (MPN) overlap syndrome, and who had received hypomethylating agents, chemotherapy, and/or allogeneic stem cell transplantation (HSCT) for these antecedent disorders. From January 2012 to August 2023, we included 673 patients with a median age of 70 years (range, 19-94); 536 (80%) had transformed from MDS, and the remainder from CMML or MDS-MPN.
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