Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network

Autor: Bibiana Mello de Oliveira, Filipe Andrade Bernardi, João Francisco Baiochi, Mariane Barros Neiva, Milena Artifon, Alberto Andrade Vergara, Ana Maria Martins, Anete Sevciovic Grumach, Angelina Xavier Acosta, Antonette Souto El Husny, Bethania de Freitas Rodrigues Ribeiro, Camila Ferreira Ramos, Carlos Eduardo Steiner, Chong Ae Kim, Denise Maria Christofolini, Diego Bettiol Yamada, Ellaine Doris Fernandes Carvalho, Erlane Marques Ribeiro, Fabíola de Arruda Bastos, Faradiba Sarquis Serpa, Flávia Reseda Brandão, Giselle Maria Araujo Felix Adjuto, Isabelle Carvalho, Jonas Alex Morales Saute, Juan Clinton Llerena Junior, Larissa Souza Mario Bueno, Luiz Carlos Santana da Silva, Mara Lucia Schmitz Ferreira Santos, Marcela Câmara Machado Costa, Marcia Maria Costa Giacon Giusti, Marcial Francis Galera, Márcio Eloi Colombo Filho, Maria Denise Fernandes Carvalho de Andrade, Maria Teresinha De Oliveira Cardoso, Marilaine Matos de Menezes Ferreira, Michelle Zeny, Milena Coelho Fernandes Caldato, Ney Boa Sorte, Nina Rosa de Castro Musolino, Paula Frassinetti Vasconcelos de Medeiros, Paulo Ricardo Gazzola Zen, Raquel Tavares Boy Da Silva, Rayana Elias Maia, Rodrigo Fock, Rosemarie Elizabeth Schimidt Almeida, Solange Oliveira Rodrigues Valle, Tatiana Amorim, Thaís Bomfim Teixeira, Vania Mesquita Gadelha Prazeres, Victor Evangelista de Faria Ferraz, Vinicius Costa Lima, Wagner José Martins Paiva, Ida Vanessa Doederlein Schwartz, Domingos Alves, Têmis Maria Félix, Raras Network Group

Publikováno v: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)

Abstract Background The Brazilian Policy for Comprehensive Care for People with Rare Diseases was implemented in 2014; however, national epidemiological data on rare diseases (RDs) are scarce and mainly focused on specific disorders. To address this

Externí odkaz: https://doaj.org/article/5b03fce23cb148d88e2d9b95dbec7a0d

3q27.3-q29 duplication and 2q37.2-q37.3 deletion rare in a female child with developmental delay and hypotonia in Manaus, Brazil

Autor: Natalia Dayane Moura Carvalho, Isabella Cristina Amaral Dantas, Vania Mesquita Gadelha Prazeres, Cleiton Fantin

Publikováno v: Saúde e Desenvolvimento Humano. 10

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e1e1871985381cb95e1f9879c628980e
https://doi.org/10.18316/sdh.v10i2.8274

Relato de uma menina com cromossomo derivativo 4 resultante de translocação herdada paterna t(4:18)

Autor: Vania Mesquita Gadelha Prazeres, Cleiton Fantin, Natalia Dayane Moura Carvalho

Publikováno v: Saúde e Desenvolvimento Humano. 9

Introducao Translocacao corresponde a troca de segmentos entre cromossomos nao homologos, decorrendo novas mutacoes ou herdadas. Na maioria dos casos, translocacoes estao associadas com cromossomo derivativo. Assim, objetivou-se relatar paciente com

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7958fca540f66df48272db3b0f494db9
https://doi.org/10.18316/sdh.v9i2.6896

Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network.

Autor: de Oliveira, Bibiana Mello^1,2 (AUTHOR), Bernardi, Filipe Andrade³ (AUTHOR), Baiochi, João Francisco⁴ (AUTHOR), Neiva, Mariane Barros⁵ (AUTHOR), Artifon, Milena⁶ (AUTHOR), Vergara, Alberto Andrade⁷ (AUTHOR), Martins, Ana Maria⁸ (AUTHOR), Grumach, Anete Sevciovic⁹ (AUTHOR), Acosta, Angelina Xavier¹⁰ (AUTHOR), Husny, Antonette Souto El¹¹ (AUTHOR), de Freitas Rodrigues Ribeiro, Bethania¹² (AUTHOR), Ramos, Camila Ferreira¹³ (AUTHOR), Steiner, Carlos Eduardo¹⁴ (AUTHOR), Kim, Chong Ae¹⁵ (AUTHOR), Christofolini, Denise Maria⁹ (AUTHOR), Yamada, Diego Bettiol¹⁶ (AUTHOR), Carvalho, Ellaine Doris Fernandes¹⁷ (AUTHOR), Ribeiro, Erlane Marques¹⁸ (AUTHOR), de Arruda Bastos, Fabíola¹⁹ (AUTHOR), Serpa, Faradiba Sarquis²⁰ (AUTHOR)

Publikováno v: Orphanet Journal of Rare Diseases. 10/30/2024, Vol. 19 Issue 1, p1-13. 13p.

Syndrome in question

Autor: Vania Mesquita Gadelha Prazeres, Patrícia Bandeira de Melo Akel, Ana Maria Carreño, Gabriel Maroja Ihara, Caroline Albuquerque Rodrigues Chirano, Isy Lima Peixoto

Publikováno v: Anais Brasileiros de Dermatologia, Vol 89, Iss 6, Pp 1005-1006 (2014)

Costello syndrome (CS) is a rare genetic disorder, first described by Costello in 1971, caused by mutations in the HRAS proto-oncogene. Clinical findings include facial dysmorphism, skin disorders, cognitive impairment, cardiac and musculoskeletal de

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::056747a58de7f681713981851b1995db
https://doi.org/10.1590/abd1806-4841.20143062