Gene of the month: FH

Fumarate hydratase (FH), encoded by the FH gene, is an enzyme which catalyses the conversion of fumarate to L-malate as part of the tricarboxylic acid cycle. Biallelic germline mutations in FH result in fumaric aciduria, a metabolic disorder resulting in

Perils of hidden depths

Clinical question A man in his 60s presented with lower urinary tract symptoms. His serum prostate-specific antigen level was 6 ng/mL. A prostate biopsy was performed (figure 1). What is your diagnosis? Acinar adenocarcinoma. Benign. High-grade prostatic intraepithelial neoplasia. Intraductal

Unexpected finding

Clinical question Herein, we describe an 81-year-old female patient, who presented with pancytopenia and bacteraemia due to Escherichia coli infection. Her pancytopenia continued despite complete response of the bacteraemia. The patient underwent a bone marrow biopsy as well as agastroscopy

p16

The p16 gene belongs to INK4 family of genes and is made up of four members: p16 INK4A, p15 INK4B, p18 INK4C and p19 INK4D, all of which share biological properties, namely, inhibition of cell growth and tumour suppression. After

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