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Master Thesis

Étude épidémiologique parmi les patients atteints de maladies rares au sein du Centre de Compétence O-Rares de Bordeaux, entre 2016 et 2018

Abstract : The accreditation of the CCMR of Bordeaux in 2017 made it possible to set up a multidisciplinary consultation, allowing the collection of medical information from patients suffering from rare diseases. A computerized medical record system has been set up within the dental and oral health unit (Pellegrin Hospital, Bordeaux University Hospital). The objective of this study is therefore to quantify the patients suffering from these diseases between January 2016 and December 2018, before the implementation of this tool. This epidemiological study was conducted in a simple blind study. Imperfect amelogenesis, oligodontia, clefting and trisomy are the most common pathologies. Willebrand disease and hemophilia, which are frequent, were not included because they are patients who come occasionally for surgical procedures. The specific needs for these pathologies are common, it is a question of multidisciplinary management. The study found that none of these patients had been seen by all specialists. In addition, it is necessary to prescribe genetic consultations for these patients, as these diseases may be the manifestation of a general syndrome. The study shows that out of 220 patients, 26 benefited from it. Finally, it is necessary to systematize visits for these patients. The study reveals significant standard deviations for each pathology, which means that many patients come few and others many. To overcome these problems, a genetic consultation has been developed every Thursday morning, allowing multidisciplinary consultations and meetings.
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https://dumas.ccsd.cnrs.fr/dumas-02290181
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Submitted on : Tuesday, September 17, 2019 - 2:42:46 PM
Last modification on : Saturday, September 21, 2019 - 1:19:55 AM
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Pauline Betizeau. Étude épidémiologique parmi les patients atteints de maladies rares au sein du Centre de Compétence O-Rares de Bordeaux, entre 2016 et 2018. Sciences du Vivant [q-bio]. 2019. ⟨dumas-02290181⟩

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