Publications by authors named "Sreenivas V Rao"
Article Synopsis
- 5-fluorouracil (5-FU) is a common chemotherapy drug used for treating colon cancer, but it can cause several side effects, including a rare but severe condition called hyperammonemic encephalopathy.
- A case study discusses a stage IV colon cancer patient who developed confusion and drowsiness due to high ammonia levels after receiving 5-FU, leading to a hospital visit and subsequent treatment.
- It's important for healthcare providers to recognize this rare side effect quickly to ensure timely diagnosis and effective treatment, which can include stopping the drug and providing supportive care.
Mutations in aminolevulinate synthase 2 (ALAS2) are usually associated with sideroblastic anemia and iron overload. The objective of this study was to determine if "mild" mutations in ALAS2 might increase the severity of primary iron overload. Direct sequencing of the ALAS2 gene was performed on 24 subjects with primary hemochromatosis and one subject with sideroblastic anemia with severe iron overload.
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- - Juvenile hemochromatosis is a genetic disorder that leads to excessive iron storage, resulting in symptoms like hormonal issues and heart problems.
- - The gene responsible for this condition, originally thought to be named HFE2, is more appropriately labeled HJV since it doesn't belong to the HFE family.
- - Research on two families with juvenile hemochromatosis revealed new mutations in the HJV gene, supporting its role as the cause of the disease.
We report clinical and genetic characteristics of seven juvenile hemochromatosis (JH) patients (six females, one male) in two unrelated kinships from the southeastern U.S. All had severe iron overload.
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