Detection of the His1069Gln mutation in Wilson disease by rapid polymerase chain reaction
A new genetic test may permit identification of some people who have Wilson disease. Wilson disease is an inborn inability to excrete copper, which untreated, can lead to brain damage or liver cirrhosis. Austrian researchers developed a rapid test for identifying a genetic mutation, which unlike others causing Wilson disease, is commonly found in Europeans with the disease. They tested blood from 83 Wilson disease patients and 98 of their relatives. Sixty-one percent of persons with Wilson disease had the mutation. This included four persons confirmed to have the disease but who had no symptoms.
Publication Name: Annals of Internal Medicine
Pegvisomant (Somavert) for acromegaly
Clinical testing shows that pegvisomant (Somavert) is perhaps the most effective drug available for treatment of acromegaly. However, comparative analysis have not been done yet and so are its long-term effects of increased growth hormone level such as their effect on tumor growth. The drug costs between $50 to $100,000 a year. It is FDA approved.
Publication Name: Medical Letter on Drugs and Therapeutics
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- Abstracts: Genetic identification of pregnancies responsible for choriocarcinomas after multiple pregnancies by restriction fragment length polymorphism analysis
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- Abstracts: The use of molecular methods in infectious diseases. A novel approach to preventing insect-borne diseases