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Knowledge-Based Diagnostic System With a Precedent Library

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Part of the book series: Lecture Notes in Computer Science ((LNAI,volume 12948))

Abstract

The hypothesis of the presumptive diagnosis before laboratory confirmation is especially important in orphan (rare) hereditary diseases. It is possible to solve this problem using computer-based decision support systems based on knowledge. However, in medical practice, there are cases of an atypical clinical picture in patients with fuzzy manifestations of features. In such cases, it is possible to increase the diagnostic accuracy using a precedent approach. The concept of “synthetic precedent” is introduced, which is the result of the transformation of an atypical case into a synthesized description. The paper presents methods for constructing synthetic precedents of two types. The precedents of the first type are created as a result of extension with the fuzzy boundaries for ordinal variables. The precedents of the second type are received by softening the requirement for the number of necessary signs of a patient to match an atypical case from the precedent library. An approach to the creation of a hybrid system, including a traditional knowledge base and a precedent library, is proposed and demonstrated. The use of the hybrid system increases the accuracy of early diagnosis of orphan diseases in childhood.

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References

  1. Köhler, S., et al.: Clinical diagnostics in human genetics with semantic similarity searches in ontologies. Am. J. Hum. Genet. 4(85), 457–464 (2009). https://doi.org/10.1016/j.ajhg.2009.09.003

    Article  Google Scholar 

  2. Fryer, A.: POSSUM (Pictures of Standard Syndromes and Undiagnosed Malformations). J. Med. Genet. 1(28), 66–67 (1991)

    Article  Google Scholar 

  3. Ayme, S., Caraboenf, M., Gouvernet, J.: GENDIAG: A computer assisted syndrome identification system. Clin. Genet. 5(28), 410–411 (1985)

    Google Scholar 

  4. Kobrinsky, B., Kazantseva, L., Feldman, A., Veltishchev, J.: Computer diagnosis of hereditary childhood diseases. Med. Audit. News 4(1), 52–53 (1991)

    Google Scholar 

  5. Allanson, J.E., Cunniff, C., Hoyme, H.E., McGaughran, J., Muenke, M., Neri, G.: Elements of morphology: Human malformation terminology for the head and face. Am. J. Med. Genet. A 149A, 6–28 (2009). https://doi.org/10.1002/ajmg.a.32612

    Article  Google Scholar 

  6. Kobrinskii, B.A., Blagosklonov, N.A., Demikova, N.S., Gribova, V.V., Shalfeeva, E.A., Petryaeva, M.N.: The possibility of applying the ontological approach to the diagnosis of orphan diseases. In: Yarushkina, N.G., Moshkin V.S. (eds.) Seventeen National conference on artificial intelligence with international participation CAI-2019, vol.2, pp. 47–55. UlSTU, Ulyanovsk, Russia (2019). (in Russian)

    Google Scholar 

  7. Blagosklonov, N.A., Kobrinskii, B.A.: Model of integral evaluation of expert knowledge for the diagnosis of lysosomal storage diseases. In: Kuznetsov, O.P., Kuznetsov, S.O., Panov, A.I., Yakovlev, K.S. (eds.) Proceedings of the Russian Advances in Artificial Intelligence 2020, vol.2648, pp.250–264. CEUR Workshop Proceedings, Moscow, Russia (2020)

    Google Scholar 

  8. Kobrinskii, B.A.: Certainty factor triunity in medical diagnostics tasks. Sci. Tech. Inf. Process. 46, 321–327 (2019)

    Article  Google Scholar 

  9. Gribova, V.V., Kleschev, A.S., Moskalenko, F.M., Timchenko, V.A., Fedorischev, L.A., Shalfeeva, E.A.: IACPaaS cloud platform for the development of intelligent service shells: current state and future evolution. Softw. Syst. 3(31), 527–536 (2018). https://doi.org/10.15827/0236-235X.123.527-536. (in Russian)

    Article  Google Scholar 

  10. Winter, R.M., Baraitser, M.: The London Medical Database. Oxford University Press, Oxford (2006)

    Google Scholar 

  11. Ronicke, S., Hirsch, M.C., Türk, E., Larionov, K., Tientcheu, D., Wagner, A.D.: Can a decision support system accelerate rare disease diagnosis? Evaluating the potential impact of Ada DX in a retrospective study. Orphanet J. Rare Dis. 14, 69 (2019). https://doi.org/10.1186/s13023-019-1040-6

    Article  Google Scholar 

  12. Alves, R., et al.: Computer-assisted initial diagnosis of rare diseases. Peer J. 4, e2211 (2016). https://doi.org/10.7717/peerj.2211

  13. Varshavskiy, P.R., Alekhin, R.V.: Ar Kar Myo, Zo Lin Khaing: implementation of a case-based module for intelligent systems. Softw. Syst. 2(110), 26–31 (2015). https://doi.org/10.15827/0236-235X.109.026-031. (in Russian)

    Article  Google Scholar 

  14. Denisova, E.A., Gubanova, G.F., Lezhenina, S.V., Chernyshov, V.V.: Model of case-based reasoning system for female infertility diagnosis. Int. J. Appl. Fundam. Res. 7, 123–128 (2018). (in Russian)

    Google Scholar 

  15. Varshavskii, P.R., Eremeev, A.P.: Modeling of case-based reasoning in intelligent decision support systems. Sci. Tech. Inf. Process. 5(37), 336–345 (2010). https://doi.org/10.3103/S0147688210050096

    Article  Google Scholar 

  16. Nazarenko, G.I., Osipov, G.S., Nazarenko, A.G., Molodchenkov, A.I.: Intelligent systems in clinical medicine. Case-based clinical guidelines synthesis. Inf. Technol. Comput. Syst. 1, 24–35 (2010). (in Russian)

    Google Scholar 

  17. Prentzas, J., Hatzilygeroudis, I.: Combinations of case-based reasoning with other intelligent methods. Int. J. Hybrid Intell. Syst. CIMA 6(4), 189–209 (2009)

    Google Scholar 

  18. Avdeenko, T.V., Makarova, E.S.: The decision support system in it-subdivisions based on integration of cbr approach and ontology. Vestnik of Astrakhan State Technical University. Ser.: Manage. Comput. Sci. Inf. 3, 85–99 (2017). https://doi.org/10.24143/2072-9502-2017-3-85-99

  19. Gabrielli, O., Clarke, L.A., Ficcadenti, A., Santoro, L., Zampini, L., Volpi, N., Coppa, G.V.: 12 year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: the important role of early treatment. BMC Med. Genetic. 17 (2016). https://doi.org/10.1186/s12881-016-0284-4

  20. Dubot, P., et al.: First report of a patient with MPS Type VII, due to novel mutations in gusb, who underwent enzyme replacement and then hematopoietic stem cell transplantation. Int. J. Mol. Sci. 20, 5345 (2019)

    Article  Google Scholar 

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Acknowledgements

This work was carried out with partial financial support from the Russian Foundation for Basic Research RFBR (project No. 19–29-01077, 18–29-03131).

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Correspondence to Nikolay Blagosklonov .

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Blagosklonov, N., Gribova, V., Kobrinskii, B., Shalfeeva, E. (2021). Knowledge-Based Diagnostic System With a Precedent Library. In: Kovalev, S.M., Kuznetsov, S.O., Panov, A.I. (eds) Artificial Intelligence. RCAI 2021. Lecture Notes in Computer Science(), vol 12948. Springer, Cham. https://doi.org/10.1007/978-3-030-86855-0_20

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  • DOI: https://doi.org/10.1007/978-3-030-86855-0_20

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  • Publisher Name: Springer, Cham

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  • Online ISBN: 978-3-030-86855-0

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