Successful Screening for Gaucher Disease in a High-Prevalence Population in Tabuleiro do Norte (Northeastern Brazil): A Cross-Sectional Study

Chaves, Rigoberto Gadelha; Coelho, Janice Carneiro; Michelin‐Tirelli, Kristiane; Mauricio, Tibelle Freitas; Chaves, Edineide de Freitas Maia; Almeida, Paulo César de; Mauricio, Carlos; Cavalcanti, Geraldo Barroso

doi:10.1007/8904_2011_19

Cited by 8 publications

(4 citation statements)

References 34 publications

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“…As part of the present study, we registered further clusters of diseases prevalent in Jewish populations, including glycogen storage disease I (MIM 232200) in the state of Rio Grande do Sul, cystic fibrosis (MIM 219700) in the state of Rio Grande do Norte, Nieman-Pick syndrome in the state of Paraíba, maple syrup urine disease (MIM 248600) in the state of São Paulo, Gaucher disease (MIM 230800; GBA gene, G377S mutation) in the state of Ceará (Chaves et al 2011), and breast cancer (BRCA1 185delAG and 5382insC and BRCA2 6174delT) in the state of Rio Grande do Sul (Dillenburg et al 2012).…”

Section: Discussionmentioning

confidence: 99%

Clusters of genetic diseases in Brazil

et al. 2018

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The aim of this paper is to present a database of isolated communities (CENISO) with high prevalence of genetic disorders or congenital anomalies in Brazil. We used two strategies to identify such communities: (1) a systematic literature review and (2) a "rumor strategy" based on anecdotal accounts. All rumors and reports were validated in a stepwise process. The bibliographical search identified 34 rumors and 245 rumors through the rumor strategy, and 144 were confirmed. A database like this one presented here represents an important tool for the planning of health priorities for rare diseases in low- and middle-income countries with large populations.

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Section: Discussionmentioning

confidence: 99%

Clusters of genetic diseases in Brazil

et al. 2018

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“…The enzyme in plasma is stable upon storage and multiple freeze thaw cycles, (storage: stable at room temperature for 24 h; storage at -30 after 8 months recovery 95.3-102%, data presented by Aerts et al GD Biomarker Qualification Workshop, September 2010, FDA Campus). Although the use of DBS in the diagnosis of lysosomal storage disorders has become increasingly popular mainly due to its convenience, at present extensive studies documenting sensitivity and specificity of assaying chitotriosidase activity in this type of biological material are not yet available [74][75][76][77]. The activity of chitotriosidase in plasma/serum can be determined using the fluorogenic substrate 4methylumbelliferyl-β-D-N,N′,N″-triacetyl-chitotrioside (4MU-C3).However, the assay is complicated by the ability of chitotriosidase to transglycosylate as well as hydrolyze this substrate and thus the reaction has nonlinear kinetics with respect to time shows non-Michaelis-Menten behaviour [78].…”

Section: Biological Materials and Methods Used To Assess Recommended ...mentioning

confidence: 99%

Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1

Dardis

Michelakakis

Rozenfeld

et al. 2022

Orphanet J Rare Dis

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Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder due to the deficient activity of the acid beta-glucosidase (GCase) enzyme, resulting in the progressive lysosomal accumulation of glucosylceramide (GlcCer) and its deacylated derivate, glucosylsphingosine (GlcSph). GCase is encoded by the GBA1 gene, located on chromosome 1q21 16 kb upstream from a highly homologous pseudogene. To date, more than 400 GBA1 pathogenic variants have been reported, many of them derived from recombination events between the gene and the pseudogene. In the last years, the increased access to new technologies has led to an exponential growth in the number of diagnostic laboratories offering GD testing. However, both biochemical and genetic diagnosis of GD are challenging and to date no specific evidence-based guidelines for the laboratory diagnosis of GD have been published. The objective of the guidelines presented here is to provide evidence-based recommendations for the technical implementation and interpretation of biochemical and genetic testing for the diagnosis of GD to ensure a timely and accurate diagnosis for patients with GD worldwide. The guidelines have been developed by members of the Diagnostic Working group of the International Working Group of Gaucher Disease (IWGGD), a non-profit network established to promote clinical and basic research into GD for the ultimate purpose of improving the lives of patients with this disease. One of the goals of the IWGGD is to support equitable access to diagnosis of GD and to standardize procedures to ensure an accurate diagnosis. Therefore, a guideline development group consisting of biochemists and geneticists working in the field of GD diagnosis was established and a list of topics to be discussed was selected. In these guidelines, twenty recommendations are provided based on information gathered through a systematic review of the literature and two different diagnostic algorithms are presented, considering the geographical differences in the access to diagnostic services. Besides, several gaps in the current diagnostic workflow were identified and actions to fulfill them were taken within the IWGGD. We believe that the implementation of recommendations provided in these guidelines will promote an equitable, timely and accurate diagnosis for patients with GD worldwide.

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“…Por outro lado, temos campanhas realizadas através do contato direto com a população, como a intitulada "10 minutos contra o Aedes", ou campanhas que realizam rodas de conversas com a população e que apresentam como base o diálogo, com uma abordagem mais específica e considerando as individualidades e os conhecimentos prévios das pessoas, além das características regionais -o que se reflete no respeito às culturas. Tal formato considera a realidade do público-alvo (ALBARADO et al, 2021;CHAVES;EVANGELISTA;FERNANDES, 2020;PIMENTA;CUNHA, 2015).…”

Section: Conteúdo Lúdicounclassified

Experiências em divulgação científica e sensibilização da população: importância do controle mecânico do vetor Aedes aegypti

Padilha

Bruno

Farnesi

2023

Rev Eletron Comun Inf Inov Saúde

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Aedes aegypti é o principal vetor de dengue, Zika e chikungunya, doenças para as quais não existem vacinas totalmente eficazes. Alternativas de controle visando mitigar essas arboviroses são primordiais. Dentre essas, o controle mecânico aborda práticas de eliminação e/ou limpeza de criadouros do vetor. Neste relato, apresentamos e avaliamos criticamente ações realizadas pelo grupo, ocorridas entre 2016 e 2019, onde divulgamos informação científica clara através do diálogo com a população. Os métodos utilizados foram: 1) Palestras em escolas (público infantojuvenil) utilizando slides, fotos e vídeos; 2) Oficinas (público misto), stand com material in vivo do ciclo de vida do Aedes, jogos e desenhos. Analisamos dez palestras em escolas do ensino fundamental e médio e 20 oficinas realizadas em diferentes regiões do Brasil. Concluímos que tais ações e suas análises críticas devem ser realizadas continuamente para que sejam bem-sucedidas.

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Successful Screening for Gaucher Disease in a High-Prevalence Population in Tabuleiro do Norte (Northeastern Brazil): A Cross-Sectional Study

Abstract: DBS-FP assay was shown to be an effective initial GD-screening strategy for high-prevalence populations in developing regions. Diagnosis could not be established from GBA activity in leukocytes alone, but required confirmation with molecular analysis.

Cited by 8 publications

References 34 publications

Clusters of genetic diseases in Brazil

Clusters of genetic diseases in Brazil

Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1

Experiências em divulgação científica e sensibilização da população: importância do controle mecânico do vetor Aedes aegypti

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