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Post-transplant transient abnormal myelopoiesis evolving from a GATA1 mutant clone in umbilical cord blood.
Ann Hematol
December 2024
Division of Hematology, Department of Medicine, Keio University School of Medicine, Tokyo, Japan.
Transient abnormal myelopoiesis (TAM) generally affects newborns with Down syndrome and is associated with constitutional trisomy 21 and a somatic GATA1 mutation. Here we describe a case of TAM which evolved after umbilical cord blood transplantation (UCBT), whose origin was identified as a GATA1 mutation-harboring clone in umbilical cord blood (UCB) by detailed genetic analyses. A 58-year-old male who received UCBT for peripheral T-cell lymphoma presented progressive anemia and thrombocytopenia, and leukocytosis with blast cells in the peripheral blood (PB).
View Article and Find Full Text PDFNeuropathology of trisomy 21 mosaicism in a case with early-onset dementia.
Alzheimers Dement
December 2024
Department of Pathology and Laboratory Medicine, University of California, Irvine, Irvine, California, USA.
Introduction: This study investigated the impact of trisomy 21 mosaicism (mT21) on Alzheimer's disease (AD) neuropathology in a well-characterized clinical case described by Ringman et al.
Methods: We describe AD neuropathology in mT21 including amyloid beta, phosphorylated tau, astrogliosis, microgliosis, α-synuclein, and TAR DNA-binding protein 43 (TDP-43) in cerebral cortex, hippocampal subregions, and amygdala using immunohistochemistry.
Results: We observed high AD neuropathologic change with a score of A3B3C3.
Cohesin Gene Promoter Methylation in Patients with Acute Myeloid Leukemia.
Life (Basel)
October 2024
Biomedical Research Foundation Academy of Athens, 11527 Athens, Greece.
Background: Aberrant gene promoter methylation is one of the hallmarks of Acute Myeloid Leukemia (AML). is an important gene, implicated in sister chromatids cohesion, DNA repair, the regulation of gene transcription, apoptosis and hematopoiesis.
Methods: In this study, we investigate the possible implication of promoter methylation in AML pathogenesis using a cohort of AML patients and a cohort of healthy individuals.
Massive parallel sequencing-based non-invasive prenatal test (NIPT) identifies aberrations on chromosome 13.
Eur J Obstet Gynecol Reprod Biol
November 2024
Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden; Department of Clinical Genetics, Uppsala University Hospital, Uppsala, Sweden. Electronic address:
Article Synopsis
- * A total of 4,532 NIPT tests were performed, with 125 indicating an increased risk for trisomies 13, 18, 21, and sex chromosome abnormalities; further testing revealed other chromosomal issues not covered by standard NIPT.
- * The findings showcase the ability of NIPT to detect complex chromosomal abnormalities, such as segmental duplications and mosaicism, underscoring its potential for genome-wide screening of copy number variations. *
Autoinflammatory syndromes mimicking Behçet's disease with gastrointestinal involvement: a retrospective analysis.
Clin Exp Rheumatol
October 2024
Department of Rheumatology, Children's Hospital of Fudan University, National Paediatric Medical Center of China, Shanghai, China.
Article Synopsis
- * The majority (83.3%) exhibited gastrointestinal problems, mainly abdominal pain, and while many met the BD criteria, a smaller percentage fit the new pediatric classification.
- * Genetic analysis revealed pathogenic variants in 7 patients, emphasizing the need for accurate diagnosis and genetic counseling due to potential overlaps with other autoinflammatory syndromes.
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