Search academic texts

Information × Registration Number 0215U001697, 0113U002266 , R & D reports Title To substantiate the principles of effective care for patients with "rare" (orfannymy) diseases based on clinical and genetic and epidemiological studies popup.stage_title Head Grechanina Elena Yakovlevna, Registration Date 23-04-2015 Organization 3.Kharkov national medical university popup.description2 The aim of the work was to study the epidemiology, clinical polymorphism and genetic heterogeneity of "rare" (orphan) diseases for izuchenrya principles for effective individual care to patients and their families. In issedovanii developed the concept of "Rare hereditary diseases in Ukraine have become a global issue of fundamental and applied medicine, which is of strategic importance for the further development of the country." Meet the following research led to improved access to high quality care to patients with RH in Ukraine in order to survive, recovery and improve the lives of patients, which requires the use of modern medical technology and the integration of the medical staff, legislative regulation and harmonization with existing routes in the world to solve the problem of "rare" diseases. The efficiency of neonatal screening in the prevention of complications of rare diseases, specifying diagnostics by evaluating the results of clinical and genetic, biochemical and molecular genetic studies of patients with symptoms of RAH monitoring the passage of RH with vklyacheniem telecommunications. Introduced principles for effective individual assistance to patients with RP and their families on the basis of the modern paradigm of medicine, based on the features of RH Product Description popup.authors Бугайова О.В. Гречаніна Ю.Б. Здибська О.П. Молодан Л.В. popup.nrat_date 2020-04-02 Close