Consiglio Nazionale delle Ricerche

Tipo di prodottoArticolo in rivista
TitoloValidation of a new multiple osteochondromas classification through Switching Neural Networks
Anno di pubblicazione2013
Autore/iM. Mordenti, E. Ferrari, E. Pedrini, N. Fabbri, L. Campanacci, M. Muselli, L. Sangiorgi
Affiliazioni autoriM. Mordenti, E. Pedrini, N. Fabbri, L. Campanacci, L. Sangiorgi: Rizzoli Orthopaedic Institute (IOR), Bologna, Italy; E. Ferrari: Impara Srl, Italy; N. Fabbri: Memorial Sloan-Kettering Cancer Center, New York, USA; M. Muselli: Institute of Eletronics, Computer and Telecommunication Engineerin, National Research Council of Italy, Genoa, Italy.
Autori CNR e affiliazioni
  • inglese
AbstractMultiple osteochondromas (MO), previously known as hereditary multiple exostoses (HME), is an autosomal dominant disease characterized by the formation of several benign cartilage-capped bone growth defined osteochondromas or exostoses. Various clinical classifications have been proposed but a consensus has not been reached. The aim of this study was to validate (using a machine learning approach) an ''easy to use'' tool to characterizeMOpatients in three classes according to the number of bone segments affected, the presence of skeletal deformities and/or functional limitations. The proposed classification has been validated (with a highly satisfactory mean accuracy) by analyzing 150 different variables on 289 MO patients through a Switching Neural Network approach (a novel classification technique capable of deriving models described by intelligible rules in if-then form). This approach allowed us to identify ankle valgism, Madelung deformity and limitation of the hip extra-rotation as ''tags'' of the three clinical classes. In conclusion, the proposed classification provides an efficient system to characterize this rare disease and is able to define homogeneous cohorts of patients to investigate MO pathogenesis.
Lingua abstractinglese
Altro abstract-
Lingua altro abstract-
Pagine da556
Pagine a560
Pagine totali-
RivistaAmerican journal of medical genetics. Part A
Attiva dal 2003
Editore: Wiley-Liss, - Hoboken, N.J.
Paese di pubblicazione: Stati Uniti d'America
Lingua: inglese
ISSN: 1552-4825
Titolo chiave: American journal of medical genetics. Part A
Titolo proprio: American journal of medical genetics.
Titolo abbreviato: Am. j. med. genet., Part A
Numero volume della rivista161A
Fascicolo della rivista3
Verificato da refereeSì: Internazionale
Stato della pubblicazione-
Indicizzazione (in banche dati controllate)
  • PubMed (Codice:23401177)
  • Scopus (Codice:2-s2.0-84874210289)
  • ISI Web of Science (WOS) (Codice:000315341700020)
Parole chiavemultiple osteochondromas, patients classification, EXT1/EXT2, switching neural network, genotype-phenotype correlation
Link (URL, URI)-
Titolo parallelo-
Data di accettazione-
Note/Altre informazioni-
Strutture CNR
  • IEIIT — IEIIT - Sede secondaria di Genova
Moduli/Attività/Sottoprogetti CNR
  • INT.P02.002.001 : Machine Learning for Biological Data
Progetti Europei-
Validation of a new multiple osteochondromas classification through Switching Neural Networks (documento privato )
Tipo documento: application/pdf