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Successful treatment of a chronic myeloid leukemia patient with extreme thrombocytosis by a combination of imatinib and interferon‑α: A case report.
Exp Ther Med
March 2025
Department of Hematology, Affiliated Hospital of Shandong Second Medical University, Weifang, Shandong 261031, P.R. China.
Chronic myeloid leukemia with extreme thrombocytosis (CML-T), defined by a platelet count >1,000x10/l is a rare leukemia subtype. The present case report described a 66-year-old female CML-T patient presenting with a platelet count of 3,798x10/l, but a consistently normal spleen size. Following treatment with imatinib combined with interferon-α, the patient achieved hematological remission within 2 months, with a platelet count reduction to 311x10/l and complete cytogenetic remission after 10 months.
View Article and Find Full Text PDFPrenatal diagnosis following preimplantation genetic testing (PGT): recommendations of the Italian Society of Human Genetics (SIGU).
J Assist Reprod Genet
January 2025
Medical Genetics & Genomics Unit, AULSS8 Berica, Vicenza, Italy.
This document aims to provide good practice recommendations in order to support maternal-foetal medicine specialists, clinical geneticists and clinical laboratory geneticists in the management of pregnancies obtained after the transfer of an embryo tested with preimplantation genetic testing (PGT). It was drafted by geneticists expert in preimplantation genetics and prenatal genetic diagnosis belonging to the "Working Group in Cytogenomics, Prenatal and Reproductive Genetics" of the "Italian Society of Human Genetics" (SIGU). In particular, the paper addresses the diagnostic algorithm to be applied in prenatal follow-up depending on the type of PGT performed, the results obtained and the related diagnostic value based on the most recent literature data and Italian and international recommendations.
View Article and Find Full Text PDFReproductive Risk Estimation Calculator for Balanced Translocation Carriers: An Improved Web-based Resource for Medical Genetics Professionals.
Curr Protoc
January 2025
Myriad Genetic Laboratories, Inc., Salt Lake City, Utah.
Balanced translocation carriers experience elevated reproductive risks, including pregnancy loss and children with anomalies due to generating chromosomally unbalanced gametes. While understanding the likelihood of producing unbalanced conceptuses is critical for individuals to make reproductive decisions, risk estimates are difficult to obtain as most balanced translocations are unique. To improve reproductive risk estimates, Drs.
View Article and Find Full Text PDFDeciphering cell states and the cellular ecosystem to improve risk stratification in acute myeloid leukemia.
Brief Bioinform
November 2024
State Key Laboratory of Cellular Stress Biology, Xiang'an Hospital, School of Life Sciences, Faculty of Medicine and Life Sciences, Xiamen University, No. 4221, Xiang'an South Road, Xiamen, Fujian 361102, China.
Acute myeloid leukemia (AML) demonstrates significant cellular heterogeneity in both leukemic and immune cells, providing valuable insights into clinical outcomes. Here, we constructed an AML single-cell transcriptome atlas and proposed sciNMF workflow to systematically dissect underlying cellular heterogeneity. Notably, sciNMF identified 26 leukemic and immune cell states that linked to clinical variables, mutations, and prognosis.
View Article and Find Full Text PDFClinicopathologic and Molecular Characterization of NUP98-Rearranged Acute Leukemias.
Int J Lab Hematol
January 2025
Department of Pathology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Introduction: NUP98 rearrangements are rare in acute leukemias and portend a poor prognosis.
Methods: This study explored clinicopathologic and molecular features of five patients with NUP98 rearranged (NUP98-r) acute leukemias, including three females and two males with a median age of 34 years.
Results: NUP98 fusion partners were associated with distinctive leukemia characteristics and biology.
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