Arvin, Shelley D. “Analysis of inconsistencies in terminology of spinal and bulbar muscular atrophy and its effect on retrieval of research.” Journal of the Medical Library Association, 102.2 (2013): 147-150.
Arvin notes that the many names diseases are called (especially new and rare diseases) can lead to problems in searching. While trying to assemble a complete bibliography on spinal and bulbar muscular atrophy (SBMA), she formulated some strategies for searching which medical librarians can utilize for such difficult searches. Usually searching can be performed with reference to the thesaurus and subject headings available. Unfortunately, this is not always possible with rare and new diseases. In the case of SBMA, more accurate and newer subject headings were not backdated, so many of the older articles would not be retrieved by a search for the newer subject headings anyway. Arvin started with a basic overview of the disease, as well as two known name variants. Whenever new variants were discovered, they were added to the search process, and old searches were re-run to make sure that nothing was missed. Arvin used EndNote to keep track of the name variants and how often they occurred. Through this process, she turned up 788 records (some repeated with slight variations) under 206 name variants published from 1968-2010. An analysis of the data showed that most of the variations were used very infrequently – a search of just the top 8 name variants would retrieve 83% of the results found. Additionally, name variations ran in families, many barely different from each other. She concludes that being aware of such difficulties and trends may help researchers struggling with similar cases.
I’m not sure that it merited a full article, but the search process was carried out well and quite impressive in its results. It was nice to see an example of the whole search process worked out.