-
Faculty of Arts and HumanitiesDean's Office, Faculty of Arts and HumanitiesJakobi 2, r 116-121 51005 Tartu linn, Tartu linn, Tartumaa EST0Institute of History and ArchaeologyJakobi 2 51005 Tartu linn, Tartu linn, Tartumaa EST0Institute of Estonian and General LinguisticsJakobi 2, IV korrus 51005 Tartu linn, Tartu linn, Tartumaa EST0Institute of Philosophy and SemioticsJakobi 2, III korrus, ruumid 302-337 51005 Tartu linn, Tartu linn, Tartumaa EST0Institute of Cultural ResearchÜlikooli 16 51003 Tartu linn, Tartu linn, Tartumaa EST0Institute of Foreign Languages and CulturesLossi 3 51003 Tartu linn, Tartu linn, Tartumaa EST0School of Theology and Religious StudiesÜlikooli 18 50090 Tartu linn, Tartu linn, Tartumaa EST0Viljandi Culture AcademyPosti 1 71004 Viljandi linn, Viljandimaa EST0Professors emeriti, Faculty of Arts and Humanities0Associate Professors emeriti, Faculty of Arts and Humanities0Faculty of Social SciencesDean's Office, Faculty of Social SciencesLossi 36 51003 Tartu linn, Tartu linn, Tartumaa EST0Institute of EducationJakobi 5 51005 Tartu linn, Tartu linn, Tartumaa EST0Johan Skytte Institute of Political StudiesLossi 36, ruum 301 51003 Tartu linn, Tartu linn, Tartumaa EST0School of Economics and Business AdministrationNarva mnt 18 51009 Tartu linn, Tartu linn, Tartumaa EST0Institute of PsychologyNäituse 2 50409 Tartu linn, Tartu linn, Tartumaa EST0School of LawNäituse 20 - 324 50409 Tartu linn, Tartu linn, Tartumaa EST0Institute of Social StudiesLossi 36 51003 Tartu linn, Tartu linn, Tartumaa EST0Narva CollegeRaekoja plats 2 20307 Narva linn, Ida-Virumaa EST0Pärnu CollegeRingi 35 80012 Pärnu linn, Pärnu linn, Pärnumaa EST0Professors emeriti, Faculty of Social Sciences0Associate Professors emeriti, Faculty of Social Sciences0Faculty of MedicineDean's Office, Faculty of MedicineRavila 19 50411 Tartu linn, Tartu linn, Tartumaa ESTInstitute of Biomedicine and Translational MedicineBiomeedikum, Ravila 19 50411 Tartu linn, Tartu linn, Tartumaa ESTInstitute of PharmacyNooruse 1 50411 Tartu linn, Tartu linn, Tartumaa ESTInstitute of DentistryL. Puusepa 1a 50406 Tartu linn, Tartu linn, Tartumaa ESTInstitute of Clinical MedicineL. Puusepa 8 50406 Tartu linn, Tartu linn, Tartumaa ESTInstitute of Family Medicine and Public HealthRavila 19 50411 Tartu linn, Tartu linn, Tartumaa ESTInstitute of Sport Sciences and PhysiotherapyUjula 4 51008 Tartu linn, Tartu linn, Tartumaa ESTProfessors emeriti, Faculty of Medicine0Associate Professors emeriti, Faculty of Medicine0Faculty of Science and TechnologyDean's Office, Faculty of Science and TechnologyVanemuise 46 - 208 51003 Tartu linn, Tartu linn, Tartumaa ESTInstitute of Computer ScienceNarva mnt 18 51009 Tartu linn, Tartu linn, Tartumaa ESTInstitute of GenomicsRiia 23b/2 51010 Tartu linn, Tartu linn, Tartumaa ESTEstonian Marine Institute0Institute of PhysicsInstitute of ChemistryRavila 14a 50411 Tartu linn, Tartu linn, Tartumaa EST0Institute of Mathematics and StatisticsNarva mnt 18 51009 Tartu linn, Tartu linn, Tartumaa EST0Institute of Molecular and Cell BiologyRiia 23, 23b - 134 51010 Tartu linn, Tartu linn, Tartumaa ESTTartu ObservatoryObservatooriumi 1 61602 Tõravere alevik, Nõo vald, Tartumaa EST0Institute of TechnologyNooruse 1 50411 Tartu linn, Tartu linn, Tartumaa ESTInstitute of Ecology and Earth SciencesJ. Liivi tn 2 50409 Tartu linn, Tartu linn, Tartumaa ESTProfessors emeriti, Faculty of Science and Technology0Associate Professors emeriti, Faculty of Science and Technology0Institute of BioengineeringArea of Academic SecretaryHuman Resources OfficeUppsala 6, Lossi 36 51003 Tartu linn, Tartu linn, Tartumaa EST0Area of Head of FinanceFinance Office0Area of Director of AdministrationInformation Technology Office0Administrative OfficeÜlikooli 17 (III korrus) 51005 Tartu linn, Tartu linn, Tartumaa EST0Estates Office0Marketing and Communication OfficeÜlikooli 18, ruumid 102, 104, 209, 210 50090 Tartu linn, Tartu linn, Tartumaa EST0Area of Vice Rector for DevelopmentCentre for Entrepreneurship and InnovationNarva mnt 18 51009 Tartu linn, Tartu linn, Tartumaa EST0University of Tartu Natural History Museum and Botanical GardenVanemuise 46 51003 Tartu linn, Tartu linn, Tartumaa EST0International Cooperation and Protocol Office0University of Tartu MuseumLossi 25 51003 Tartu linn, Tartu linn, Tartumaa EST0Area of RectorRector's Strategy OfficeInternal Audit OfficeArea of Vice Rector for Academic AffairsOffice of Academic AffairsUniversity of Tartu Youth AcademyUppsala 10 51003 Tartu linn, Tartu linn, Tartumaa EST0Student Union OfficeÜlikooli 18b 51005 Tartu linn, Tartu linn, Tartumaa EST0Centre for Learning and TeachingArea of Vice Rector for ResearchUniversity of Tartu LibraryW. Struve 1 50091 Tartu linn, Tartu linn, Tartumaa EST0Grant Office
Binh Ho Duy PhD dissertation „Osteogenesis imperfecta in Vietnam“ defence 15.07
Binh Ho Duy wil be defending his PhD (medicine) dissertation „Osteogenesis imperfecta in Vietnam“ on the 15th of June 14.00 at Biomedicum (Ravila 19), room 1006.
Supervisors:
Associate Professor/Senior Researh Fellow Katre Maasalu (dr. med. (Medicine), University of Tartu, Institute of Clinical Medicine),
Associate Professor/Senior Researh Fellow (dr. med. (medicine), University of Tartu, Institute of Clinical Medicine),
Professor/Lead Research Fellow Sulev Kõks (PhD (Molecular Medicine), University of Tartu, Institute of Biomedicine and Translational Medicine),
Oponent:
professor Li Felländer-Tsai (MD, PhD), Department of Clinical Science, Intervention and Technology, Karolinska Instituut, Stockholm, Rootsi.
Summary
Osteogenesis Imperfecta (OI), known also as “brittle bone disease”, is a rare genetic disorder of bones. OI is characterized by low bone mass, bone fragility, and skeletal deformity. The variability of the OI ranges from mild to lethal forms. In addition to bone fragility and skeletal deformities, patients may develop a short stature, dentinogenesis imperfecta, blue eye sclerae and progressive hearing loss. At present, about 90% of OI cases arise due to mutations in the collagen genes. Some OI cases remain genetically undiagnosed and pathogenesis and genetics are not completely known. There is still no evidence of an association between OI with gender, race, or ethnic group.
OI was not been studied in a Vietnamese population before. The aims of this study were to describe the epidemiology, clinical features, and mutations in the collagen genes among Vietnamese OI patients.
A totally 146 OI patients from 120 OI families were included in the study. There was 99 families without previous OI history and 21 families had two or more generations of OI history. All patients had skeletal deformations. 34 OI patients had a history of intrauterine fractures. There were 18 patients (12.33%) who had suffered over 30 fractures. The mean number of lifetime fractures for was 13.23. There was 117 OI patients with blue sclera, 89 dentinogenesis imperfecta and 26 hearing loss.
DI was indentifed in 60.96% patients with OI. Genetic analysis suggests presence of correlation between DI and abnormality of collagen type I. The occlusal features were common in OI patients.
We identified COL1A1 mutations in 36.3% and COL1A2 mutations in 23.1% of patients, which is lower compared to other populations. Also, the amount of discovered novel pathogenic variants is different from previous studies.
The number of found affected individuals and severe phenotypes indicates that the disease is underdiagnosed in Vietnam. The results will find practical use in educating of physicians about the signs of OI in order to improve diagnosis and prevention of complications of this rare disorder. Our data also showed a lower number of collagen OI pathogenic variants in studied Vietnamese patients compared to reported rates for other OI populations. Current study showed that Vietnamese OI population is unique for investigation of OI phenotype and genotype.