title: [The establishment of the Marfan syndrome biobank in Hungary].
abstract: Marfan syndrome is a genetic disorder of the connective tissue, which affects approximately 2000-3000 individuals in Hungary. Given its multi-systemic manifestations, this disorder is often difficult to diagnose. To date, the National Marfan Register system contains approximately 250 cases, and this number is dynamically increasing.
  
  
  OBJECTIVE
  Collection of data from biological samples, clinical parameters, and lifestyle factors in Hungarian patients with Marfan syndrome.
  
  
  METHODS
  In terms of the criteria used for selection, those cases were chosen where the disorder could be clearly diagnosed on the basis of the patients' cardiovascular and systemic symptoms, as well as of their family history, in line with the guidelines set by the Revised Ghent Nosology.
  
  
  RESULTS
  For the purposes of developing the biobank used for the research, 102 cases were selected from the Marfan Register (cDNA from 55 patients, genomic DNA and serum from 102 patients). In addition to the samples, data have been obtained by using internationally validated surveys to further examine the role of physical activity, nutrition and various psychological factors.
  
  
  CONCLUSIONS
  The establishment of the Marfan Biobank enables scientists to effectively carry out research based on genetic, gene-expression and protein analysis. The biobank also provides new opportunities to study Hungarian patients with Marfan syndrome.
authors.affiliation: NAGY GÉN Diagnosztikai és Kutatási Kft. Budapest. langmarzoltan@hotmail.com
authors.forename: Annamária
authors.initials: A
authors.lastname: Agota
authors.forename: Bence
authors.initials: B
authors.lastname: Agg
authors.forename: Kálmán
authors.initials: K
authors.lastname: Benke
authors.forename: József Gábor
authors.initials: JG
authors.lastname: Joó
authors.forename: Zoltán
authors.initials: Z
authors.lastname: Langmár
authors.forename: Krisztina
authors.initials: K
authors.lastname: Marosi
authors.forename: Zsuzsanna
authors.initials: Z
authors.lastname: Lelovics
authors.forename: Zsuzsanna
authors.initials: Z
authors.lastname: Lelelovics
authors.forename: Kitti
authors.initials: K
authors.lastname: Deé
authors.forename: Péter
authors.initials: P
authors.lastname: Nagy
authors.forename: Bernadett
authors.initials: B
authors.lastname: Köles
authors.forename: Endre
authors.initials: E
authors.lastname: Horváth
authors.forename: Zsuzsanna
authors.initials: Z
authors.lastname: Crespo
authors.forename: Zoltán
authors.initials: Z
authors.lastname: Szabolcs
authors.forename: Zsolt B
authors.initials: ZB
authors.lastname: Nagy
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D004247:DNA; D005260:Female; D006801:Humans; D006814:Hungary; D053208:Kaplan-Meier Estimate; D008019:Life Style; D008297:Male; D008382:Marfan Syndrome / Q000175:diagnosis / Q000235:genetics / Q000401:mortality / Q000503:physiopathology / Q000523:psychology; D008875:Middle Aged; D009043:Motor Activity; D009061:Mouth Mucosa; D009752:Nutritional Status; D018579:Patient Selection; D012313:RNA; D012042:Registries; D011795:Surveys and Questionnaires; D014015:Tissue Banks
chemical_list: D012313:RNA; D004247:DNA