Genetic heterogeneity in Wilson disease: lessons from rare alleles

Article Abstract:

Wilson disease presents diagnostic challenges; however, a new test may help identify persons with the disease. Wilson disease is a rare, inborn inability to excrete copper that causes brain and liver damage if left untreated. The prognosis is best if treatment begins before symptoms appear. Diagnosis has been difficult because numerous genetic mutations produce the disease. Recently, researchers developed a rapid test for identifying a mutation found in one-third of Wilson disease patients of European ancestry. This should prove helpful in at least some cases in identifying affected relatives of those known to have the disease.

Editorial, Diagnosis, Genetic screening, Genetic testing, Wilson's disease

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The association of radiographically detected vertebral fractures with back pain and function: a prospective study

Article Abstract:

A fracture in a spinal vertebra can cause back pain and disability in postmenopausal women. Researchers x-rayed the spines of 7,223 women 65 and older at the start of a study and again an average of 3.7 years later. At the time of the second x-ray, women with a new vertebral fracture were 2 to 7 times more likely to have a back pain, to stay in bed at least one day due to back pain and to have prolonged limitations in activity because of back pain. Many of these fractures do not cause other symptoms and may not be detected unless x-rays are done.

Health aspects, Causes of, Backache, Back pain, Postmenopausal women, Vertebrae, Spinal fractures

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