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Atypical B-Cell Acute Lymphoblastic Leukemia with iAMP21 in the Context of Constitutional Ring Chromosome 21: A Case Report and Review of the Genetic Insights.
Int J Mol Sci
January 2025
Centro de Investigación Biomédica en Red de Cáncer, CIBERONC CB16/12/00284, Instituto de Salud Carlos III, 28029 Madrid, Spain.
Recent studies have demonstrated the association between constitutional ring chromosome 21 (r(21)c) and the development of B-cell acute lymphoblastic leukemia (B-ALL) with intrachromosomal amplification of chromosome 21 (iAMP21). iAMP21 acts as a driver which is often accompanied by secondary alterations that influence disease progression. Here, we report an atypical case of iAMP21 B-ALL with a unique molecular profile in the context of r(21)c.
View Article and Find Full Text PDFDisseminated nontuberculous mycobacterial infection in the context of interferon-gamma autoantibody syndrome: A case report and review of the literature.
Eur J Microbiol Immunol (Bp)
January 2025
1Department of Infectious Diseases, John Hunter Hospital, New Lambton Heights, NSW 2305, Australia.
Interferon-gamma (IFN-γ) autoantibody syndrome is an emerging clinical entity that has been associated with disseminated non-tuberculous mycobacterial infection (dNTM) particularly in healthy young people, a population not previously thought to be at particular risk. A 29-year-old South-East Asian man presented with several weeks of fever, cough, lymphadenopathy, and constitutional symptoms while working on an international cargo ship, deteriorating rapidly with a sepsis-like syndrome. Eventually lymph node and sputum cultures revealed a diagnosis of dNTM infection with growth of both Mycobacterium persicum and Mycobacterium abscessus.
View Article and Find Full Text PDFProlonged SARS-CoV-2 Viremia in an Immunocompromised Patient.
J Med Cases
January 2025
Department of Clinical Sciences, Malmo, Lund University, Malmo, Sweden.
Immunocompromised patients, especially those receiving B-cell depleting therapies, are at risk for developing atypical presentation with regard to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, with the potential for diagnostic delay and adverse outcomes if such delay occurs. A 66-year-old female with history of granulomatosis with polyangiitis (GPA) with previous pulmonary involvement, treated with rituximab and low-dose prednisolone, presented with prolonged fever and cough after having been treated at home for a mild SARS-CoV-2 infection in early July 2023. The patient had a prolonged course over several months with constitutional symptoms such as fever, cough and malaise.
View Article and Find Full Text PDFAltered chromatin landscape and 3D interactions associated with primary constitutional MLH1 epimutations.
Clin Epigenetics
December 2024
Hereditary Cancer Group, ONCOBELL Program, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), L'Hospitalet de Llobregat, Spain.
Background: Lynch syndrome (LS), characterised by an increased risk for cancer, is mainly caused by germline pathogenic variants affecting a mismatch repair gene (MLH1, MSH2, MSH6, PMS2). Occasionally, LS may be caused by constitutional MLH1 epimutation (CME) characterised by soma-wide methylation of one allele of the MLH1 promoter. Most of these are "primary" epimutations, arising de novo without any apparent underlying cis-genetic cause, and are reversible between generations.
View Article and Find Full Text PDFLike Father, Like Daughter: A Family With a Constitutional Thrombocytopenia Variant Due to a Novel Heterozygous Missense Mutation in GP1BA.
J Pediatr Hematol Oncol
January 2025
Department of Pediatrics, The University of North Carolina at Chapel Hill, Chapel Hill, NC.
Constitutional platelet disorders have become better understood since Bernard and Soulier first described a case in 1948. Their diagnosis can also be challenging due to overlap in clinical presentation and lab findings with platelet type von Willebrand. Bernard-Soulier syndrome is a disorder caused by GPIb receptor mutations that decrease its affinity for von Willebrand factor resulting in reduced platelet function and macrothrombocytopenia.
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