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Vol. LXIII, No. 10
May 13, 2011

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Alzheimer’s Diagnostic Guidelines Updated

For the first time in 27 years, clinical diagnostic criteria for Alzheimer’s disease dementia have been revised. The NIA/Alzheimer’s Association Diagnostic Guidelines for Alzheimer’s Disease outline some new approaches for clinicians and provide scientists with more advanced guidelines for moving forward with research on diagnosis and treatments. The guidelines appeared online Apr. 19 in Alzheimer’s & Dementia: The Journal of the Alzheimer’s Association.

The original criteria were the first to address the disease and described only later stages, when symptoms of dementia are already evident. The update covers the full spectrum of the disease as it gradually changes over many years. Guidelines describe the earliest preclinical stages of the disease, mild cognitive impairment and dementia due to Alzheimer’s pathology. The updates address the use of imaging and biomarkers in blood and spinal fluid that may help determine whether changes in the brain and those in body fluids are due to Alzheimer’s. Biomarkers are increasingly employed in research to detect onset of disease and to track progression, but cannot yet be used routinely in clinical diagnosis without further testing and validation.

Drug Collection Created to ID New Therapies

The first definitive collection of thousands of approved drugs is being screened for additional clinical use against rare and neglected diseases

The first definitive collection of thousands of approved drugs is being screened for additional clinical use against rare and neglected diseases.

Researchers have begun screening the first definitive collection of thousands of approved drugs for clinical use against rare and neglected diseases. Scientists are hunting for additional uses of the drugs, hoping to find off-label therapies for some of the 6,000 rare diseases that afflict 25 million Americans. NIH’s Chemical Genomics Center (NCGC) coordinates the effort.

Researchers assembled the set of drugs based on information from the NCGC Pharmaceutical Collection browser, This publicly available, web-based application described in Apr. 27’s Science Translational Medicine provides complete information on the nearly 27,000 active pharmaceutical ingredients, including 2,750 small-molecule drugs that have been approved by regulatory agencies in the U.S., Canada, Europe and Japan, as well as all compounds that have been registered for human clinical trials.

The browser, an ongoing effort, also includes entries on investigational drugs. The ultimate goal is to collect all of the more than 7,500 compounds that have been tested in man and that present potential jump-start development of treatments for rare and neglected diseases.

Common Gene Variant Linked to Fibrosis Risk

NIH-funded scientists have identified a common genetic variant associated with substantially increased risk of developing pulmonary fibrosis, a debilitating and life-threatening lung condition. The gene variant is found in a region of DNA thought to regulate the production of an important mucus-forming protein. However, experts say knowing the variant is not, by itself, enough for a test to determine who would be at risk of the disease.

This gene variant near the mucin 5B gene is both fairly common and a risk factor for idiopathic pulmonary fibrosis (IPF) and familial interstitial pneumonia (FIP). IPF and FIP are two related lung diseases that produce progressive, irreversible and currently incurable scarring of the lungs that is called fibrosis. The study appeared Apr. 21 in the New England Journal of Medicine.

Vitamin E Improves a Type of Fatty Liver Disease

A specific form of vitamin E improved the most severe form of fatty liver disease in some children, according to an NIDDK-funded study. Results appeared Apr. 27 in the Journal of the American Medical Association. A previous study found vitamin E effective in some adults with the disease.

Nonalcoholic fatty liver disease (NAFLD) is the most common chronic liver disease among U.S. children. NAFLD ranges in severity from steatosis (fat in the liver without injury) to nonalcoholic steatohepatitis or NASH (fat, inflammation and liver damage). Fatty liver increases a child’s risk of developing heart disease and liver cirrhosis. The only way to distinguish NASH from other forms of fatty liver disease is with a liver biopsy. Weight loss may reverse the disease in some children, but other than dietary advice, there are no specific treatments. Excess fat in the liver is believed to cause injury by increasing levels of oxidants, compounds that damage cells.

Using liver biopsies, researchers found that after 96 weeks of treatment, 58 percent of the children on vitamin E no longer had NASH, compared to 41 percent of the children on metformin (a diabetes drug) and 28 percent on placebo. Vitamin E was better than placebo because it significantly reduced enlargement and death of liver cells.— compiled by Carla Garnett

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