Gender as a disease modifier in neurofibromatosis type 1 optic pathway glioma.

نویسندگان

  • Michael J Fisher
  • Michael Loguidice
  • David H Gutmann
  • Robert Listernick
  • Rosalie E Ferner
  • Nicole J Ullrich
  • Roger J Packer
  • Uri Tabori
  • Robert O Hoffman
  • Simone L Ardern-Holmes
  • Trent R Hummel
  • Darren R Hargrave
  • Eric Bouffet
  • Joel Charrow
  • Larissa T Bilaniuk
  • Laura J Balcer
  • Lucy D'Agostino McGowan
  • Grant T Liu
چکیده

In his very informative and thoughtful discussion of a patient with copper deficiency, Dr Samuels refers to the checklist concept in considering the differential diagnosis. He cites a Google search of myeloneuropathy and malnutrition as helping in suggesting the diagnosis. He further notes that searching on common nonspecific neurologic signs and symptoms generates exhaustive lists that would not be helpful diagnostically. It should be noted that the use of recently introduced specialty-specific diagnostic systems can yield highly relevant checklists. Using NeurologicDx in the current case study, a single-term search of “gastric bypass” or cross-referencing common terms such as “myelopathy” and “malnutrition” yields a checklist of 12 and 9 differential diagnostic considerations, respectively, both of which contain copper deficiency and other relevant disease entries. Comparatively, either of these searches in Google would give too broad a response to be helpful diagnostically. In essence, absent the clinician coming up with the term myeloneuropathy, 1 or 2 properly chosen nonspecific signs, symptoms, or key terms used in a specialty-specific system with “smart” algorithms can provide highly relevant diagnostic checklists.

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عنوان ژورنال:
  • Annals of neurology

دوره 75 5  شماره 

صفحات  -

تاریخ انتشار 2014