Clusters of rare disorders and congenital anomalies in South America
Bibliographic Data
| ID | 14967642 |
|---|---|
| Authors | Augusto César Cardoso Dos Santos (0000-0002-1499-9105, Instituto Nacional de Ciência e Tecnologia de Genética Médica Populacional (INaGeMP), Porto Alegre, RS, Brazil), Augusto César Cardoso-dos-Santos, Guillermo Reales (0000-0001-9993-3916, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil), Lavinia Schuler-Faccini (0000-0002-2428-0460, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil) |
| Year | 2023 |
| Volume | 47 |
| Pages | 1 |
| Publication date | 2023-06-23 |
| Peer Reviewed | Yes |
| Open Access | Yes |
| Type | ARTICLE |
| Venue | Revista Panamericana de Salud Pública (JOURNAL) |
| Journal identifiers | ISSN: 1020-4989 • E-ISSN: 1680-5348 |
| Publisher | Pan American Health Organization (PUBLISHER • US) |
| DOI | 10.26633/rpsp.2023.98 |
| PMID | 37363626 |
| OpenAlex | W4381800882 |
| Language | EN |
| References cited | 70 |
Objective. To map geographic clusters of rare disorders and congenital anomalies reported in South America. Methods. Qualitative systematic review conducted in Medline/PubMed, Lilacs, and Scielo electronic databases to identify studies meeting eligibility criteria. The strategy resulted in 1 672 unique articles, from which 164 were selected for full reading by a pair of reviewers. Results. Fifty-five articles reported at least one cluster of genetic disorders or congenital anomalies in South American territory. From these papers, 122 clusters were identified, of which half (61) were related to autosomal recessive disorders. Sixty-five (53.3%) of the clusters were located in Brazil. Conclusions. The results of the review reinforce that rare diseases and congenital anomalies can occur in a non-random way in space, which is discussed in the perspective of the complex history of formation, social organization, and genetic structure of the South American population. Mapping clusters in population medical genetics can be an important public health tool, given that such places concentrate cases of rare diseases that frequently require multiprofessional, specialized care. Therefore, these results can support important agendas in public health related to rare diseases and congenital anomalies, such as health promotion and surveillance
Environmental health · Family medicine · MEDLINE · Pathology · Political science · Population · Public health · SciELO · Cystic Fibrosis Research Advances · Genomics and Rare Diseases · Maternal and Neonatal Healthcare · Medicine · Pediatrics
| Citation velocity | historical |
|---|---|
| Highly cited | No |