دورية أكاديمية
أعرض في EDS

Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN).

التفاصيل البيبلوغرافية
العنوان: Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN).
المؤلفون: Félix TM; Medical Genetics Service, Porto Alegre Clinical Hospital, Ramiro Barcelos St., 2350, Porto Alegre, RS, 90035-903, Brazil. tfelix@hcpa.edu.br., de Oliveira BM; Medical Genetics Service, Porto Alegre Clinical Hospital, Ramiro Barcelos St., 2350, Porto Alegre, RS, 90035-903, Brazil.; Federal University of Rio Grande do Sul, Porto Alegre, Brazil., Artifon M; Medical Genetics Service, Porto Alegre Clinical Hospital, Ramiro Barcelos St., 2350, Porto Alegre, RS, 90035-903, Brazil., Carvalho I; Department of Social Medicine, Ribeirão Preto Faculty of Medicine, University of São Paulo, São Paulo, Brazil., Bernardi FA; Department of Social Medicine, Ribeirão Preto Faculty of Medicine, University of São Paulo, São Paulo, Brazil., Schwartz IVD; Medical Genetics Service, Porto Alegre Clinical Hospital, Ramiro Barcelos St., 2350, Porto Alegre, RS, 90035-903, Brazil.; Federal University of Rio Grande do Sul, Porto Alegre, Brazil., Saute JA; Medical Genetics Service, Porto Alegre Clinical Hospital, Ramiro Barcelos St., 2350, Porto Alegre, RS, 90035-903, Brazil.; Federal University of Rio Grande do Sul, Porto Alegre, Brazil., Ferraz VEF; Department of Genetics, Ribeirão Preto Faculty of Medicine, University of São Paulo, São Paulo, Brazil., Acosta AX; Department of Pediatrics, Federal University of Bahia, Salvador, Brazil., Sorte NB; Department of Pediatrics, Federal University of Bahia, Salvador, Brazil., Alves D; Department of Social Medicine, Ribeirão Preto Faculty of Medicine, University of São Paulo, São Paulo, Brazil.
مؤلفون مشاركون: RARAS Network group
المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Feb 24; Vol. 17 (1), pp. 84. Date of Electronic Publication: 2022 Feb 24.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
أسماء مطبوعة: Original Publication: [London] : BioMed Central, 2006-
مواضيع طبية MeSH: Quality of Life* , Rare Diseases*/genetics, Brazil/epidemiology ; Humans ; Infant, Newborn ; Prospective Studies ; Retrospective Studies
مستخلص: The Brazilian Policy of Comprehensive Care for People with Rare Diseases (BPCCPRD) was established by the Ministry of Health to reduce morbidity and mortality and improve the quality of life of people with rare diseases (RD). Several laboratory tests, most using molecular genetic technologies, have been incorporated by the Brazilian Public Health System, and 18 specialised centres have so far been established at university hospitals (UH) in the capitals of the Southern, Southeastern and Northeastern regions. However, whether the available human and technological resources in these services are appropriate and sufficient to achieve the goals of care established by the BPCCPRD is unknown. Despite great advances in diagnosis, especially due to new technologies and the recent structuring of clinical assessment of RD in Brazil, epidemiological data are lacking and when available, restricted to specific disorders. This position paper summarises the performance of a nationally representative survey on epidemiology, clinical status, and diagnostic and therapeutic resources employed for individuals with genetic and non-genetic RD in Brazil. The Brazilian Rare Disease Network (BRDN) is under development, comprising 40 institutions, including 18 UH, 17 Rare Diseases Reference Services and five Newborn Screening Reference Services. A retrospective study will be initially conducted, followed by a prospective study. The data collection instrument will use a standard protocol with sociodemographic data and clinical and diagnostic aspects according to international ontology. This great collaborative network is the first initiative of a large epidemiological data collection of RD in Latin America, and the results will increase the knowledge of RD in Brazil and help health managers to improve national public policy on RD in Brazil.
(© 2022. The Author(s).)
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فهرسة مساهمة: Investigator: T Amorim; GMAF Adjuto; RES Almeida; FR Brandão; LSM Bueno; MDFC de Andrade; CI Cagliari; MT Cardoso; EDF Carvalho; MCM Costa; A El-Husny; LS Faccini; RA Fock; RN Florêncio; MF Galera; R Giugliani; L de Rosso Giuliani; AS Grumach; DG Horovitz; JC Llerena-Junior; CAE Kim; RE Maia; AM Martins; PFV de Medeiros; NR de Castro Musolino; ME Nita; HG da Silva Nunesmaia; JCS de Oliveira; WJM Paiva; H Pimentel; LL de Camargo Pinto; VMG Prazeres; B de Freitas Rodrigues Ribeiro; E Ribeiro; MMJ Rodrigues; MJS Salles; MTV Sanseverino; EP Dos Santos; MLSF Santos; FM Sarti; LCS da Silva; RTB da Silva; CE Steiner; ABW Tavares; TB Teixeira; A Vergara; PRG Zen; MG Zuchetti
Keywords: Epidemiology; Healthcare system; Public health; Rare diseases
تواريخ الأحداث: Date Created: 20220225 Date Completed: 20220413 Latest Revision: 20220413
رمز التحديث: 20231215
مُعرف محوري في PubMed: PMC8867447
DOI: 10.1186/s13023-022-02254-4
PMID: 35209917
قاعدة البيانات: MEDLINE
الوصف
تدمد:1750-1172
DOI:10.1186/s13023-022-02254-4