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SYNDROMAL APPROACH IN THE DIAGNOSIS OF HEREDITARY DISEASES (LECTURE)

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Titel: SYNDROMAL APPROACH IN THE DIAGNOSIS OF HEREDITARY DISEASES (LECTURE)
Autoren: Elena A. Tkachuk, Igor Zh. Seminsky
Quelle: Байкальский медицинский журнал, Vol 2, Iss 4, Pp 85-94 (2023)
Verlagsinformationen: Ministry of Health of the Russian Federation, Irkutsk State Medical University, 2023.
Publikationsjahr: 2023
Schlagwörter: Medicine (General), R5-920, syndromic diagnosis, hereditary pathology, minor and major developmental anomalies
Beschreibung: The number of nosologic units of hereditary pathology is, according to Online Mendelian Inheritance in Man, about 16,000 syndromes (and their corresponding genes). Before starting diagnostics, it is necessary to make sure that the disease is genetically determined, using such signs as the familial and congenital nature of the pathology, progressive chronic course, multiplicity of pathological changes in organs and systems, resistance to known meth-ods of therapy. For effective diagnosis, it is necessary to use the assessment of minor and major developmental anomalies, as well as a syndromic approach. The syndromic approach is used to diagnose functional and anatomical syndromes that accompany hereditary diseases. This allows you to narrow the range of diseases to the use of labora-tory and instrumental research methods, and most accurately formulate a preliminary diagnosis for DNA diagnostics.Diagnosis of hereditary pathology is a rather complex problem because the number of nosologic forms is large, and the final diagnosis is determined using expensive DNA diagnostics. In this regard, the possibility of using a syn-dromic approach in clinical diagnosis comes to the fore.
Publikationsart: Article
Sprache: English
ISSN: 2949-0715
DOI: 10.57256/2949-0715-2023-4-85-94
Zugangs-URL: https://doaj.org/article/60ed665c1c9e45c494786b59d765d7e9
Dokumentencode: edsair.doajarticles..c225a895f4a255cb4aad73f37ce03f11
Datenbank: OpenAIRE
Beschreibung
Abstract:The number of nosologic units of hereditary pathology is, according to Online Mendelian Inheritance in Man, about 16,000 syndromes (and their corresponding genes). Before starting diagnostics, it is necessary to make sure that the disease is genetically determined, using such signs as the familial and congenital nature of the pathology, progressive chronic course, multiplicity of pathological changes in organs and systems, resistance to known meth-ods of therapy. For effective diagnosis, it is necessary to use the assessment of minor and major developmental anomalies, as well as a syndromic approach. The syndromic approach is used to diagnose functional and anatomical syndromes that accompany hereditary diseases. This allows you to narrow the range of diseases to the use of labora-tory and instrumental research methods, and most accurately formulate a preliminary diagnosis for DNA diagnostics.Diagnosis of hereditary pathology is a rather complex problem because the number of nosologic forms is large, and the final diagnosis is determined using expensive DNA diagnostics. In this regard, the possibility of using a syn-dromic approach in clinical diagnosis comes to the fore.
ISSN:29490715
DOI:10.57256/2949-0715-2023-4-85-94