Publications by authors named "Lisa Yuen"
Article Synopsis
- * Key diagnostic criteria include the presence of dysplasia and the percentage of myeloblasts, which influence both disease classification and patient prognosis.
- * This review focuses on the evaluation of bone marrow biopsies, aspirates, and peripheral blood smears, emphasizing their role in supporting accurate MDS diagnosis and classification.
Article Synopsis
- MEGD(H)EL syndrome is a rare genetic disorder caused by mutations in the SERAC1 gene, leading to a variety of symptoms such as aciduria, hearing loss, and neurological issues.
- A specific case of a child with this syndrome shows signs of liver disease, developmental delays, and two novel SERAC1 mutations, showing varying degrees of severity.
- Despite initial serious symptoms, the child's development has improved significantly by age 4, now displaying only mild delays, and a liver biopsy revealed mitochondrial abnormalities, which are important for understanding the disorder.
Juvenile myelomonocytic leukemia (JMML) is an aggressive myeloproliferative neoplasia that lacks effective targeted chemotherapies. Clinically, JMML manifests as monocytic leukocytosis, splenomegaly with consequential thrombocytopenia. Most commonly, patients have gain-of-function (GOF) oncogenic mutations in PTPN11 (SHP2), leading to Erk and Akt hyperactivation.
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