Someone has saved these two search results using SearchMedica’s new saved searches feature. The first confirms that mutations in the glucocerebrosidase gene involved in Gaucher disease are also associated with Parkinson disease. The second reports on a new plant-derived replacement form of the enzyme that is well tolerated and less expensive than a commercial version manufactured in mammalian cell lines.
RESULT: Complete screening for glucocerebrosidase mutations in Parkinson’s disease patients from Portugal
Neurobiology of Aging (PubMed) | Sep 1, 2009RESULT: A Plant-Derived Recombinant Human Glucocerebrosidase Enzyme—A Preclinical and Phase I Investigation
PLoS One | March 11, 2009
An even more recent multicenter study coordinated by the National Human Genome Research Institute confirms a strong association between this gene and Parkinson disease.
RESULT: Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson’s Disease
New England Journal of Medicine | Oct 22, 2009
Search: glucocerebrosidase Parkinson’s
Another search, using the name of the manufacturer, reveals that the new drug has already been approved by the FDA to treat Gaucher disease, even though phase 3 trials are still under way. (We see no evidence using the option “The entire Web” of any current efforts to test the drug, velaglucerase, for Parkinson disease.)
RESULT: New Gaucher Drug Goes to Market During Shortage
MedPage Today | Sep 3, 2009
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SEARCH TIP: Searches colleagues have tagged
A box at the top of the left column shows results that other people have been saving on SearchMedica. This allows you for the first time to see for youreself what others have been searching on, without waiting for the next edition of Medical Search Tips.
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OTHER RECENT SEARCHES ON SEARCHMEDICA
Search: hypertrophic cardiomyopathy
RESULT: Implications of Hypertrophic Cardiomyopathy Transmitted by Sperm Donation
JAMA | Oct 21, 2009
An investigation that identified cardiomyopathy among 9 of 24 children fathered by the same sperm donor has raised new questions about genetic testing that ought to be required among individuals who wish to donate gametes for infertility treatment. It also may have interesting implications for physicians inquiring into the medical histories behind unusual conditions.
Search: alcohol disease
RESULT: Functional genomic and epidemiological studies reveal novel genes regulating cholesterol metabolism
Genome Medicine | Oct 27, 2009
New methods in genetic research are providing a powerful way to explore the heredity of cardiovascular disease as it relates to cholesterol metabolism. (But what on earth does that have to do with this search term?)
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SEARCH TIP: Let’s get one thing perfectly clear
Why do articles about cholesterol turn up with the search term “alcohol disease”? It’s not quite a mystery. Strictly speaking, cholesterol, which possesses a hydroxyl group, is an alcohol. But it certainly should not be turning up as a synonym for “alcohol” in medical searches! We’ve taken steps to correct that.
Setting that aside, this search term is ambiguous in any case.
Does this person want information about alcohol-associated diseases? Using that more specific search term generates a much more relevant list of results.
Perhaps instead, the intent was to find articles about alcoholism as a disease. Putting that phrase inside quotation marks and using it as a query delivers 29 articles pertinent to that topic.
Search: “alcoholism as disease”
