Publications by authors named "B Burzynska"
Background: Hexokinase (HK) deficiency is a rare autosomal recessively inherited disease manifested by chronic nonspherocytic hemolytic anemia. Most patients present with a mild to severe course of the disease (fetal hydrocephalus, neonatal hyperbilirubinemia, severe anemia). We reviewed 37 cases of patients with hexokinase deficiency described so far, focusing on the severity of the disease, clinical presentation, treatment applied, and genetic test results.
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- Pyruvate kinase (PK) deficiency is a genetic disorder marked by chronic hemolytic anemia and is caused by mutations in the PKLR gene.
- Researchers studied nine Polish patients with severe anemia who had normal PK activity and discovered both known and a new mutation (c.178C > T) in the PKLR gene.
- They further analyzed two specific mutations (c.1058delAAG and c.101-1G > A), concluding that one negatively affects PK's stability and function, while the other creates a defective mRNA that leads to a severely reduced PK protein.
Background: Vagus nerve is one of the crucial routes in communication between the immune and central nervous systems. The impaired vagal nerve function may intensify peripheral inflammatory processes. This effect subsides along with prolonged recovery after permanent nerve injury.
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