Publications by authors named "Elena Rizzardi"

An 8-year-old boy with recurrent acute bleeding of lymphangioma of the left orbit is described. D-dimer levels increased as the size of the mass became stable, showing the effect of fibrinolysis within the hemorrhagic mass after clotting. D-dimer levels confirmed the possible use of conservative management of this lymphangioma.

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Article Synopsis
  • - Mendelian susceptibility to mycobacterial disease (MSMD) is a rare condition that makes it harder for individuals to fight off certain weak mycobacterial infections, often due to genetic issues like deficiency in interferon gamma receptor 1 (IFN-gammaR1).
  • - A 7-year-old boy from Italy with MSMD displayed a complex set of symptoms, such as high blood sugar at birth, neuromuscular problems, and specific physical features, in addition to developing a severe lung infection.
  • - The boy's MSMD was found to stem from a genetic mutation linked to uniparental disomy of chromosome 6, leading to a rare situation where both copies of a gene are inherited
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