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CLINICAL CASES

    1. North-West State Medical University. I. I. Mechnikova of the Ministry of Health of the Russian Federation, St. Petersburg 191015, Russia
    2. Children’s Research Orthopedic Institute named after G. I. Turner of the Ministry of Health of the Russian Federation, St. Petersburg 196603, Russia
    3. St. Petersburg Research Institute of Phthisiopulmonology of the Ministry of Health of the Russian Federation, St. Petersburg 191036, Russia
    4. Biobank Center of St. Petersburg State University, St. Petersburg 198504, Russia

    Keywords: children, hereditary diseases, dysmorphia, Loeys-Dietz syndrome, NGS (next generation sequencing) technology

    Abstract:The article discusses the diagnostic strategy of search and application of modern methods of molecular genetics in the diagnosis of hereditary diseases. The approach of molecular genetic diagnosis using NGS technology (new-generation sequencing). At the clinical example of the patient with Lois-Dietz syndrome, type 2 is shown the signifi cance for diagnosis method of target sequencing of DNA sites relating to the coding areas of the genes associated with contractural arachnodactyly, Marfan’s syndrome and other hereditary diseases with similar phenotypical manifestations.

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      12. Shashi V., McConkie-Rosell A., Rosell B., Shock K., Vellore K., McDonald M., Jiang Y. H., Xie P., Need A., Goldetein D. B. Th e utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders. Genet Med. 2014; 16(2): 176–82.
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    Full text is published :
    Larionova V. I., Khramtsova E. G., Nikitina A. P., Serebryakova E. A., Melnikova I. Yu. New molecular-genetic technologies in diff erential diagnostics of orfan diseases in children. Experimental and Clinical Gastroenterology. 2019;161(1): 145–149. (In Russ.) DOI: 10.31146/1682-8658-ecg-161-1-145-149
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    1. Saratov State Medical University, n. a. V. I. Razumovsky of the Ministry of Health of Russia, Saratov 410012, Russia

    Keywords: Langerhans cell hystiocytosis, Langerhans cell, hemocolitis

    Abstract:The article presents a brief information about Langerhans cell hystiocytosis — a rare granulomatous proliferative disease in which there is an infi ltration of one or more organs by Langerhans cells. A detailed description of the clinical case of this disease in a child of the fi rst year of life with a rare variant of the onset of the disease in the form of a severe hormone-dependent lesion of the colon, which occurred with the leading symptom of hemocolitis.

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      14. Rumiantcev A. G., Maschan A. A., Maschan M. A., Novichkova G. A. Federalnie klinicheskie rekomendacii po diagnostike i lecheniyu gistiocytosa iz kletok Langergansa [Federal clinical guidelines for the diagnosis and treatment of histiocytosis from Langerhans cells]. Moscow, NODGO, 2015. 39 p.
      15. Valiev T. T., Makhonova L. A., Kovrigina A. M., Sholokhova E. N., Tupitsyn N. N., Serebryakova I. N., Mentkevich G. L. Case of congenital Langerhans cells histiocytosis in an infant. Oncohematology. 2011, no.2, pp.19–23.
     


    Full text is published :
    Spivakovskiy Yu. M., Spivakovskaya A. Yu., Chernenkov Yu. V. Langerhans cell hystiocytosis in a child with a heavy hemocolitis. Experimental and Clinical Gastroenterology. 2019;161(1): 150–154. (In Russ.) DOI: 10.31146/1682-8658-ecg-161-1-150-154
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