The article discusses the representation of information on lysosomal storage diseases to support the process of diagnostic decisions in childhood. This hereditary pathology refers to rare (orphan) diseases that are difficult to recognize and without timely appropriate therapy has a negative effect on the quality and expectancy of life. The article analyzes information sources for 16 nosological units from this group. Using the methods of knowledge engineering, information about the identified clinical manifestations is represented in the form of visual portraits (mind map) for diagnostics diseases and improvement qualification of pediatricians.
References
1. Smirnova G.V. Lizosomnye bolezni nakopleniya. Voprosy Sovremennoj Pediatrii. 2004 ; 3 ( 3 ): 84–85. (In Russ).
2. Federal'nyj zakon Rossijskoj Federacii ot 21.11.2011 № 323-FZ «Ob ohrane zdorov'ya grazhdan v Rossijskoj Federacii ». (In Russ).
3. Davydkin I.L., Hajretdinov R.K., Kripova S.P., Danilova O.E. Bolezn ' Goshe : klinicheskaya kartina , diagnostika , lechenie. Effektivnaya farmakoterapiya. 2014 ; 47 : 22–27. (In Russ).
4. Vitkovskaya I.P., Petryajkina E.E., Koltunov I.E. Ocenka kompetentnosti vrachej pervichnogo zvena zdravoohraneniya po organizacii okazaniya medicinskoj pomoshchi detyam s orfannymi zabolevaniyami v Moskve. Farmateka. 2017 ; 11 : 91–95. (In Russ).
5. Vitkovskaya I.P. Sovershenstvovanie pomoshchi detyam s orfannymi zabolevaniyami i ih roditelyam v Moskve. Social'nye aspekty zdorov'ya naseleniya. 2018 ; 61 ( 3 ) : 6. (In Russ).
6. Novikov P.V. Problema redkih ( orfannyh ) nasledstvennyh boleznej u detej v Rossii i puti ee resheniya. Rossijskij vestnik perinatologii i pediatrii. 2012 ; 57 ( 2 ): 4–8. (In Russ).
7. Lee Y. H., Shim K. Y., Park S. B., Kim Y. C. Ocular manifestations in a patient with de novo Fabry disease. Yeungnam U niversity Journal of Medicine. 2018 ; 35 ( 2 ): 232.
8. Jallal H., Khatori A., Bendriss L. Maladie de Fabry: à propos d’un cas atypique. Pan African Medical Journal. 2017 ; 28 ( 1 ): 2–6.
9. Novikov P.V. Pravovye aspekty redkih ( orfannyh ) zabolevanij v Rossii i v mire. Medicina. 2013 ; 1 ( 4 ): 53–73. (In Russ).
10. Kobrinskij B.A., Novikov P.V., Belousova E.D., Voinova V.Y u., Demikova N.S., Dorofeeva M.Y u., Podol'naya M.A., Semyachkina A.N. Specializirovannye registry dlya monitoringa effektivnosti novyh lekarstvennyh preparatov v postoyannom lechenii bol'nyh s redkimi zabolevaniyami. Vrach i inform. tekhnol. 2014 ; 3 : 13–21. (In Russ).
11. Gavrilova T.A., Kudryavcev D.V., Muromcev D.I. Inzheneriya znanij. Modeli i metody : Uchebnik. SPb.: Lan', 2016. 324 р. (In Russ).
12. Kobrinskii B.A., Blagosklonov N.A. Hybrid approach to knowledge extraction: textual analysis and evaluations of experts. Open Semantic Technologies for Intelligent Systems: Materialy Mezhdunarodnoj nauchno-tekhnicheskoj konferencii. Vyp.2. (Respublika Belarus', Minsk, 15–17 fevralya 2018). Minsk: BGUIR, 2018 : 191–194. (In Russ).
13. Fedosova O.A., Sokolina E.N. O znachenii vizualizacii uchebnoj informacii. Problemy pedagogiki. 2018 ; 3(35) : 96–99. (In Russ).
14. Afanas'ev A.A. Tekhnologiya vizualizacii dannyh kak instrument sovershenstvovaniya processa podderzhki prinyatiya reshenij. Inzhenernyj vestnik Dona. 2014 ; 4. (In Russ).
15. B'yuzen T. Intellekt-karty. Polnoe rukovodstvo po moshchnomu instrumentu myshleniya. Р er. s angl. M.: Mann, Ivanov i Ferber, 2019. 208 р. (In Russ).
2. Federal'nyj zakon Rossijskoj Federacii ot 21.11.2011 № 323-FZ «Ob ohrane zdorov'ya grazhdan v Rossijskoj Federacii ». (In Russ).
3. Davydkin I.L., Hajretdinov R.K., Kripova S.P., Danilova O.E. Bolezn ' Goshe : klinicheskaya kartina , diagnostika , lechenie. Effektivnaya farmakoterapiya. 2014 ; 47 : 22–27. (In Russ).
4. Vitkovskaya I.P., Petryajkina E.E., Koltunov I.E. Ocenka kompetentnosti vrachej pervichnogo zvena zdravoohraneniya po organizacii okazaniya medicinskoj pomoshchi detyam s orfannymi zabolevaniyami v Moskve. Farmateka. 2017 ; 11 : 91–95. (In Russ).
5. Vitkovskaya I.P. Sovershenstvovanie pomoshchi detyam s orfannymi zabolevaniyami i ih roditelyam v Moskve. Social'nye aspekty zdorov'ya naseleniya. 2018 ; 61 ( 3 ) : 6. (In Russ).
6. Novikov P.V. Problema redkih ( orfannyh ) nasledstvennyh boleznej u detej v Rossii i puti ee resheniya. Rossijskij vestnik perinatologii i pediatrii. 2012 ; 57 ( 2 ): 4–8. (In Russ).
7. Lee Y. H., Shim K. Y., Park S. B., Kim Y. C. Ocular manifestations in a patient with de novo Fabry disease. Yeungnam U niversity Journal of Medicine. 2018 ; 35 ( 2 ): 232.
8. Jallal H., Khatori A., Bendriss L. Maladie de Fabry: à propos d’un cas atypique. Pan African Medical Journal. 2017 ; 28 ( 1 ): 2–6.
9. Novikov P.V. Pravovye aspekty redkih ( orfannyh ) zabolevanij v Rossii i v mire. Medicina. 2013 ; 1 ( 4 ): 53–73. (In Russ).
10. Kobrinskij B.A., Novikov P.V., Belousova E.D., Voinova V.Y u., Demikova N.S., Dorofeeva M.Y u., Podol'naya M.A., Semyachkina A.N. Specializirovannye registry dlya monitoringa effektivnosti novyh lekarstvennyh preparatov v postoyannom lechenii bol'nyh s redkimi zabolevaniyami. Vrach i inform. tekhnol. 2014 ; 3 : 13–21. (In Russ).
11. Gavrilova T.A., Kudryavcev D.V., Muromcev D.I. Inzheneriya znanij. Modeli i metody : Uchebnik. SPb.: Lan', 2016. 324 р. (In Russ).
12. Kobrinskii B.A., Blagosklonov N.A. Hybrid approach to knowledge extraction: textual analysis and evaluations of experts. Open Semantic Technologies for Intelligent Systems: Materialy Mezhdunarodnoj nauchno-tekhnicheskoj konferencii. Vyp.2. (Respublika Belarus', Minsk, 15–17 fevralya 2018). Minsk: BGUIR, 2018 : 191–194. (In Russ).
13. Fedosova O.A., Sokolina E.N. O znachenii vizualizacii uchebnoj informacii. Problemy pedagogiki. 2018 ; 3(35) : 96–99. (In Russ).
14. Afanas'ev A.A. Tekhnologiya vizualizacii dannyh kak instrument sovershenstvovaniya processa podderzhki prinyatiya reshenij. Inzhenernyj vestnik Dona. 2014 ; 4. (In Russ).
15. B'yuzen T. Intellekt-karty. Polnoe rukovodstvo po moshchnomu instrumentu myshleniya. Р er. s angl. M.: Mann, Ivanov i Ferber, 2019. 208 р. (In Russ).
For citation
Titova E.V. Visual representation of knowledge about the clinical signs of lysosomal storage diseases. Medical doctor and information technology. 2020; S1: 65-69. (In Russ.). doi : 10.37690/1811-0193-2020-S1-65-69.
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