Detection of the His1069Gln mutation in Wilson disease by rapid polymerase chain reaction

Article Abstract:

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.

Diagnosis, Gene mutations, Gene mutation, Genetic aspects, Polymerase chain reaction, Wilson's disease

---

Pegvisomant (Somavert) for acromegaly

Article Abstract:

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.

United States, Complications and side effects, Risk factors, Drug therapy, Growth, Drug use, Somatotropin, Tumors, Acromegaly, Tumours, Company growth

---

Similar abstracts:

• Abstracts: Does increased blood pressure cause left ventricular hypertrophy or vice versa? Narrow QRS ventricular tachycardia
• Abstracts: Changes in body composition and energy expenditure after six weeks' growth hormone treatment. Prediction of twenty-four-hour energy expenditure in a respiration chamber in smokers and non-smokers
• Abstracts: Genetic identification of pregnancies responsible for choriocarcinomas after multiple pregnancies by restriction fragment length polymorphism analysis
• Abstracts: Regression in renal cell carcinoma as re-expression of cell death in kidney development. Form and cause in multiple sclerosis
• Abstracts: The use of molecular methods in infectious diseases. A novel approach to preventing insect-borne diseases

This website is not affiliated with document authors or copyright owners. This page is provided for informational purposes only. Unintentional errors are possible.