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VEXAS syndrome: is it more a matter of inflammation or hematopoietic clonality? A case series approach to diagnosis, therapeutic strategies and transplant management.
Ann Hematol
January 2025
Hematology, Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, 09121, Italy.
VEXAS syndrome is a complex hemato-inflammatory disorder, driven by somatic mutations in the UBA1 gene within hematopoietic precursor cells. It is characterized by systemic inflammation, rheumatological manifestations, and frequent association with myelodysplastic syndrome (MDS). We present a series of four VEXAS cases, all of which include concomitant MDS, each displaying distinct genetic signatures and clinical features at diagnosis, with a focus on their diagnostic and therapeutic implications.
View Article and Find Full Text PDFPeri-Transplant Management of JAK Inhibitor Therapy in Myelofibrosis.
Am J Hematol
February 2025
Department of Medical Oncology, Division of Hematologic Malignancies, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts, USA.
Measurable residual disease testing and allogeneic hematopoietic cell transplantation for AML: adapting Pre-MEASURE to clinical practice.
Bone Marrow Transplant
November 2024
Division of Transplantation and Cell Therapy, Sylvester Comprehensive Cancer Center, Miller School of Medicine, University of Miami, Miami, FL, USA.
Measurable residual disease (MRD) testing in patients with acute myelogenous leukemia (AML) represents a heterogenous assessment process designed to quantify leukemia-specific biomarkers that are not ascertainable by routine pathologic evaluation. The most common tools used to assess MRD are multiparameter flow cytometry (MPFC), and polymerase chain reaction (PCR) based tools, including quantitative or digital droplet PCR (qPCR, ddPCR), or next-generation sequencing (NGS) technologies. Collectively, MRD assessments have become an important clinical tool in the management of patients with AML.
View Article and Find Full Text PDFHuman papillomavirus disease in deficiency: a genetic predisposition to HPV-associated female anogenital malignancy.
Front Immunol
September 2024
Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.
Article Synopsis
- - Patients with GATA2 haploinsufficiency face higher risks for HPV-related anogenital cancers, with the study showing that HPV appeared at a median age of 18.9 in females and 25.6 in males, often leading to significant health issues.
- - The research conducted a thorough review of 68 patients over 17 years, revealing that 76% had HPV-related squamous intraepithelial lesions (SIL), with females showing a higher prevalence and severity of high-grade lesions compared to males.
- - Among patients receiving hematopoietic stem cell transplants for GATA2-linked diseases, some still experienced persistent HPV issues post-treatment; however, those who received vaccinations afterward showed minimal evidence
Altered Mental Status in the Solid-Organ Transplant Recipient.
Semin Neurol
December 2024
Department of Neurology, Emory University Hospital, Atlanta, Georgia.
Article Synopsis
- Patients getting organ transplants go through a tough time before and after the surgery, often dealing with serious health issues and needing extra support.
- After the transplant, they might face problems with their thinking or behavior due to brain issues that can last a long time.
- The review talks about different reasons for these brain problems, how to find out what’s wrong, and how to treat them, especially focusing on liver transplant patients but also mentioning other types of transplants.
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