A first description of the Colombian national registry for rare diseases
Objective: Orphan diseases must be considered a public health concern, underlying country-specific challenges for their accurate and opportune diagnosis, classification and management. Orphan disease registries have not yet been created in South America, a continent having a population of ~ 415 mill...
- Autores:
- Tipo de recurso:
- Fecha de publicación:
- 2017
- Institución:
- Universidad del Rosario
- Repositorio:
- Repositorio EdocUR - U. Rosario
- Idioma:
- eng
- OAI Identifier:
- oai:repository.urosario.edu.co:10336/23588
- Acceso en línea:
- https://doi.org/10.1186/s13104-017-2840-1
https://repository.urosario.edu.co/handle/10336/23588
- Palabra clave:
- Adolescent
Adult
Aged
Child
Colombia
Female
Human
Infant
Male
Middle aged
Newborn
Preschool child
Rare disease
Register
Statistics and numerical data
Very elderly
Young adult
Adolescent
Adult
Aged
Aged, 80 and over
Child
Colombia
Female
Humans
Infant
Male
Middle aged
Rare diseases
Registries
Young adult
Colombian health system
Orphan disease
Rare disease registry
preschool
newborn
Child
Infant
- Rights
- License
- Abierto (Texto Completo)
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f1dae9ec-4709-4f46-9cfa-032204144134-12c6437ba-04b2-4ca0-9673-f56cff89e469-16d9f0834-4e9c-4c09-a27b-d5fe089113e3-19ec55a7e-0511-44c5-af49-b921aba28514-1579e451e-504f-49ec-8f4f-412b49ca8d80-1fb063f2d-12f0-465d-8f2b-5a316191e73b-177be235a-2644-44fd-94a9-71bc3eb864ce-1797827706002020-05-26T00:03:24Z2020-05-26T00:03:24Z2017Objective: Orphan diseases must be considered a public health concern, underlying country-specific challenges for their accurate and opportune diagnosis, classification and management. Orphan disease registries have not yet been created in South America, a continent having a population of ~ 415 million inhabitants. In Colombia ~ 3 million of patients are affected by rare diseases. The aim of the present study was to establish the first Colombian national registry for rare diseases. The registry was created after the establishment of laws promoting the development of clinical guidelines for diagnosis, management, census and registry of patients suffering rare diseases. Results: In total, 13,215 patients were recorded in the Colombian registry. The survey reported 653 rare diseases. The most common diseases were congenital factor VIII deficiency (hemophilia A) (8.5%), myasthenia gravis (6.4%), von Willebrand disease (5.9%), short stature due to growth hormone qualitative anomaly (4.2%), bronchopulmonary dysplasia (3.9%) and cystic fibrosis (3.2%). Although, a marked under-reporting of cases was observed, some pathologies displayed similar behavior to that reported by other initiatives and databases. The data currently available in the registry provides a baseline for improvement regarding local and regional surveys and the start for better understanding rare diseases in Colombia. © 2017 The Author(s).application/pdfhttps://doi.org/10.1186/s13104-017-2840-117560500https://repository.urosario.edu.co/handle/10336/23588engBioMed Central Ltd.No. 1BMC Research NotesVol. 10BMC Research Notes, ISSN:17560500, Vol.10, No.1 (2017)https://www.scopus.com/inward/record.uri?eid=2-s2.0-85032337213&doi=10.1186%2fs13104-017-2840-1&partnerID=40&md5=e0b4bfb63e67db97cdd36b4e4625e61aAbierto (Texto Completo)http://purl.org/coar/access_right/c_abf2instname:Universidad del Rosarioreponame:Repositorio Institucional EdocURAdolescentAdultAgedChildColombiaFemaleHumanInfantMaleMiddle agedNewbornPreschool childRare diseaseRegisterStatistics and numerical dataVery elderlyYoung adultAdolescentAdultAgedAged, 80 and overChildColombiaFemaleHumansInfantMaleMiddle agedRare diseasesRegistriesYoung adultColombian health systemOrphan diseaseRare disease registrypreschoolnewbornChildInfantA first description of the Colombian national registry for rare diseasesarticleArtículohttp://purl.org/coar/version/c_970fb48d4fbd8a85http://purl.org/coar/resource_type/c_6501Mateus, Heidi ElianaPérez, Ana MaríaMesa, Martha LucíaEscobar, GermánGálvez, Jubby MarcelaMontaño, José IvoOspina, Martha LucíaLaissue, PaulORIGINALs13104-017-2840-1.pdfapplication/pdf1645429https://repository.urosario.edu.co/bitstreams/237acb0f-2cda-47c9-b22b-e726882ad605/downloade096632ce91260eeabdac5991aea03b5MD51TEXTs13104-017-2840-1.pdf.txts13104-017-2840-1.pdf.txtExtracted texttext/plain28018https://repository.urosario.edu.co/bitstreams/633fb16e-d8d7-49c9-b8a3-0d698a713ba8/download053b760546cf132cc827828a2290047cMD52THUMBNAILs13104-017-2840-1.pdf.jpgs13104-017-2840-1.pdf.jpgGenerated Thumbnailimage/jpeg4601https://repository.urosario.edu.co/bitstreams/0b660148-3c17-4193-9e53-d23342bd5d75/download9e7d3da0ab41c683e02aef45c2f7d15eMD5310336/23588oai:repository.urosario.edu.co:10336/235882022-05-02 07:37:14.62298https://repository.urosario.edu.coRepositorio institucional EdocURedocur@urosario.edu.co |
dc.title.spa.fl_str_mv |
A first description of the Colombian national registry for rare diseases |
title |
A first description of the Colombian national registry for rare diseases |
spellingShingle |
A first description of the Colombian national registry for rare diseases Adolescent Adult Aged Child Colombia Female Human Infant Male Middle aged Newborn Preschool child Rare disease Register Statistics and numerical data Very elderly Young adult Adolescent Adult Aged Aged, 80 and over Child Colombia Female Humans Infant Male Middle aged Rare diseases Registries Young adult Colombian health system Orphan disease Rare disease registry preschool newborn Child Infant |
title_short |
A first description of the Colombian national registry for rare diseases |
title_full |
A first description of the Colombian national registry for rare diseases |
title_fullStr |
A first description of the Colombian national registry for rare diseases |
title_full_unstemmed |
A first description of the Colombian national registry for rare diseases |
title_sort |
A first description of the Colombian national registry for rare diseases |
dc.subject.keyword.spa.fl_str_mv |
Adolescent Adult Aged Child Colombia Female Human Infant Male Middle aged Newborn Preschool child Rare disease Register Statistics and numerical data Very elderly Young adult Adolescent Adult Aged Aged, 80 and over Child Colombia Female Humans Infant Male Middle aged Rare diseases Registries Young adult Colombian health system Orphan disease Rare disease registry |
topic |
Adolescent Adult Aged Child Colombia Female Human Infant Male Middle aged Newborn Preschool child Rare disease Register Statistics and numerical data Very elderly Young adult Adolescent Adult Aged Aged, 80 and over Child Colombia Female Humans Infant Male Middle aged Rare diseases Registries Young adult Colombian health system Orphan disease Rare disease registry preschool newborn Child Infant |
dc.subject.keyword.eng.fl_str_mv |
preschool newborn Child Infant |
description |
Objective: Orphan diseases must be considered a public health concern, underlying country-specific challenges for their accurate and opportune diagnosis, classification and management. Orphan disease registries have not yet been created in South America, a continent having a population of ~ 415 million inhabitants. In Colombia ~ 3 million of patients are affected by rare diseases. The aim of the present study was to establish the first Colombian national registry for rare diseases. The registry was created after the establishment of laws promoting the development of clinical guidelines for diagnosis, management, census and registry of patients suffering rare diseases. Results: In total, 13,215 patients were recorded in the Colombian registry. The survey reported 653 rare diseases. The most common diseases were congenital factor VIII deficiency (hemophilia A) (8.5%), myasthenia gravis (6.4%), von Willebrand disease (5.9%), short stature due to growth hormone qualitative anomaly (4.2%), bronchopulmonary dysplasia (3.9%) and cystic fibrosis (3.2%). Although, a marked under-reporting of cases was observed, some pathologies displayed similar behavior to that reported by other initiatives and databases. The data currently available in the registry provides a baseline for improvement regarding local and regional surveys and the start for better understanding rare diseases in Colombia. © 2017 The Author(s). |
publishDate |
2017 |
dc.date.created.spa.fl_str_mv |
2017 |
dc.date.accessioned.none.fl_str_mv |
2020-05-26T00:03:24Z |
dc.date.available.none.fl_str_mv |
2020-05-26T00:03:24Z |
dc.type.eng.fl_str_mv |
article |
dc.type.coarversion.fl_str_mv |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
dc.type.coar.fl_str_mv |
http://purl.org/coar/resource_type/c_6501 |
dc.type.spa.spa.fl_str_mv |
Artículo |
dc.identifier.doi.none.fl_str_mv |
https://doi.org/10.1186/s13104-017-2840-1 |
dc.identifier.issn.none.fl_str_mv |
17560500 |
dc.identifier.uri.none.fl_str_mv |
https://repository.urosario.edu.co/handle/10336/23588 |
url |
https://doi.org/10.1186/s13104-017-2840-1 https://repository.urosario.edu.co/handle/10336/23588 |
identifier_str_mv |
17560500 |
dc.language.iso.spa.fl_str_mv |
eng |
language |
eng |
dc.relation.citationIssue.none.fl_str_mv |
No. 1 |
dc.relation.citationTitle.none.fl_str_mv |
BMC Research Notes |
dc.relation.citationVolume.none.fl_str_mv |
Vol. 10 |
dc.relation.ispartof.spa.fl_str_mv |
BMC Research Notes, ISSN:17560500, Vol.10, No.1 (2017) |
dc.relation.uri.spa.fl_str_mv |
https://www.scopus.com/inward/record.uri?eid=2-s2.0-85032337213&doi=10.1186%2fs13104-017-2840-1&partnerID=40&md5=e0b4bfb63e67db97cdd36b4e4625e61a |
dc.rights.coar.fl_str_mv |
http://purl.org/coar/access_right/c_abf2 |
dc.rights.acceso.spa.fl_str_mv |
Abierto (Texto Completo) |
rights_invalid_str_mv |
Abierto (Texto Completo) http://purl.org/coar/access_right/c_abf2 |
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application/pdf |
dc.publisher.spa.fl_str_mv |
BioMed Central Ltd. |
institution |
Universidad del Rosario |
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reponame:Repositorio Institucional EdocUR |
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