2 results
05/Sep/2022
DOI: 10.31744/einstein_journal/2022RC0048
ABSTRACT Gain-of-function mutations in the STAT1 gene have been initially associated with chronic mucocutaneous candidiasis. However, further research has shown that STAT1 GOF variants may increase susceptibility to infection by other intracellular pathogens. This report describes the first case of disseminated leishmaniasis associated with a STAT1 GOF mutation in a pediatric patient who did not have chronic mucocutaneous candidiasis. The patient was a four-year-old boy presenting with fever, severe asthenia, hepatosplenomegaly, pancytopenia, and liver failure. Bone marrow aspirate revealed hemophagocytosis […]
Keywords: Germ-line mutation; Leishmaniasis, visceral; Lymphohistiocytosis, hemophagocytic; Sequence analysis, DNA; STAT1 transcription factor
22/Mar/2022
22/Mar/2022
DOI: 10.31744/einstein_journal/2022AO6450
ABSTRACT Objective To understand the feasibility of FGFR3 tests in the Brazilian public health context, and to sample the mutational burden of this receptor in high-grade muscle invasive bladder cancer. Methods A total of 31 patients with high-grade muscle-invasive bladder cancer were included in the present study. Either transurethral resection of bladder tumor or radical cystectomy specimens were analyzed. Formalin-fixed paraffin-embedded tissue blocks were sectioned, hematoxylin and eosin stained, and histologic sections were reviewed. Total RNA was extracted using the […]
Keywords: Carcinoma, transitional cell; DNA; Mutation; Polymerase chain reaction; Receptor, fibroblast growth factor, type 3; Sequence analysis, DNA; Urinary bladder neoplasms