Literature DB >> 20454860

Inborn errors of metabolism in Latin America: challenges and opportunities.

Roberto Giugliani1.   

Abstract

Latin America includes more than 40 countries and possessions, and its population of 570 million has an important representation of the three main human races. The area is experiencing an economic improvement, progressively bringing the inborn errors of metabolism (IEM) to a higher level among health priorities. Challenges to the progress of the IEM field include the huge disparities, the high prevalence of malnutrition and infections, the co-existence of very different models of public health services, the unstable socio-economic and political conditions, and the difficulties in integrating the countries. However, a rapidly changing social and economic environment is presenting many opportunities to the IEM field, like the improvements in infrastructure, the concentration of the population in urban areas, the continuous growth of neonatal screening, the use of filter paper samples, the availability of internet communication, and the interest in IEM by the new population medical genetics discipline. Analyzing this picture, several proposals are presented, such as the development of activities of provision of health services, education and research as an integrated package, the increase in training of human resources, the expansion of access to diagnostic tests, and the use the neonatal screening framework to expand the provision of services. In a continent with few IEM centers, there is a major need for such groups to work in collaboration, complementing each other's capabilities, providing training of human resources, and developing joint projects. The integration of these groups into a large transnational network of reference centers would be a major task for the coming years.

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Mesh:

Year:  2010        PMID: 20454860     DOI: 10.1007/s10545-010-9112-8

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN: 0141-8955            Impact factor:   4.982


  5 in total

1.  Genetic services and testing in Brazil.

Authors:  Dafne Dain Gandelman Horovitz; Victor Evangelista de Faria Ferraz; Sulamis Dain; Antonia Paula Marques-de-Faria
Journal:  J Community Genet       Date:  2012-05-05

Review 2.  Dangerous and expensive screening and treatment for rare childhood diseases: the case of Krabbe disease.

Authors:  John D Lantos
Journal:  Dev Disabil Res Rev       Date:  2011

3.  Ethics, genetics and public policies in Uruguay: newborn and infant screening as a paradigm.

Authors:  Mariela Larrandaburu; Ursula Matte; Ana Noble; Zully Olivera; Maria Teresa V Sanseverino; Luis Nacul; Lavinia Schuler-Faccini
Journal:  J Community Genet       Date:  2015-05-29

Review 4.  Research, diagnosis and education in inborn errors of metabolism in Colombia: 20 years' experience from a reference center.

Authors:  Olga Y Echeverri; Johana M Guevara; Ángela J Espejo-Mojica; Andrea Ardila; Ninna Pulido; Magda Reyes; Alexander Rodriguez-Lopez; Carlos J Alméciga-Díaz; Luis A Barrera
Journal:  Orphanet J Rare Dis       Date:  2018-08-16       Impact factor: 4.123

5.  Information and Diagnosis Networks - tools to improve diagnosis and treatment for patients with rare genetic diseases.

Authors:  Taiane Alves Vieira; Franciele Barbosa Trapp; Carolina Fischinger Moura de Souza; Lavínia Schuler Faccini; Laura Bannach Jardim; Ida Vanessa Doederlein Schwartz; Mariluce Riegel; Carmen Regla Vargas; Maira Graeff Burin; Sandra Leistner-Segal; Patrícia Ashton-Prolla; Roberto Giugliani
Journal:  Genet Mol Biol       Date:  2019-06-10       Impact factor: 1.771

  5 in total

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