Keywords:
Neoplasia, Genetic defects, Congenital, Education, Diagnostic procedure, Decision analysis, Ultrasound, MR, CT, Neuroradiology peripheral nerve, Musculoskeletal system, Musculoskeletal soft tissue
Authors:
F. Rossi1, G. Murialdo2, A. Schenone3, M. Grandis2, D. Ferone2, A. Tagliafico3; 1IT, 2Genoa/IT, 3Genova/IT
DOI:
10.1594/essr2018/P-0019
Methods and Materials
The Center included an alphabetical database of n= 621 main rare diseases (with main name as well as alternative names),
based on the available data in the medical literature,
to help Orphan Patients find detailed information about their conditions.
[6] From September 2017 to January 2017 one junior radiologist (F.R.) evaluated one by one all the n=621 pathologies of the list to assess when radiology has a primary role in the diagnostic pathway.
The rare disease involving the musculoskeletal system were selected and then were organized into age-specific groups (adults,
children,
both adults and children) and in etiologic sub-types.
A further subdivision was made according to imaging modalities: magnetic resonance imaging (MRI),
computerized tomography (CT),
ultrasound (US),
positron emission tomography (PET) and X-ray.
The analysis was repeated twice.
A second senior radiologist (A.T.),
official consultant of the Center,
independently,
checked the list for consistency.
Any discrepancies were resolved through discussion,
until consensus was reached.
To summarize the basic features of the obtained data,
descriptive analysis was done.