10 research outputs found

    Pervasive gaps in Amazonian ecological research

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    Biodiversity loss is one of the main challenges of our time,1,2 and attempts to address it require a clear un derstanding of how ecological communities respond to environmental change across time and space.3,4 While the increasing availability of global databases on ecological communities has advanced our knowledge of biodiversity sensitivity to environmental changes,5–7 vast areas of the tropics remain understudied.8–11 In the American tropics, Amazonia stands out as the world’s most diverse rainforest and the primary source of Neotropical biodiversity,12 but it remains among the least known forests in America and is often underrepre sented in biodiversity databases.13–15 To worsen this situation, human-induced modifications16,17 may elim inate pieces of the Amazon’s biodiversity puzzle before we can use them to understand how ecological com munities are responding. To increase generalization and applicability of biodiversity knowledge,18,19 it is thus crucial to reduce biases in ecological research, particularly in regions projected to face the most pronounced environmental changes. We integrate ecological community metadata of 7,694 sampling sites for multiple or ganism groups in a machine learning model framework to map the research probability across the Brazilian Amazonia, while identifying the region’s vulnerability to environmental change. 15%–18% of the most ne glected areas in ecological research are expected to experience severe climate or land use changes by 2050. This means that unless we take immediate action, we will not be able to establish their current status, much less monitor how it is changing and what is being lostinfo:eu-repo/semantics/publishedVersio

    Pervasive gaps in Amazonian ecological research

    Get PDF

    Pervasive gaps in Amazonian ecological research

    Get PDF
    Biodiversity loss is one of the main challenges of our time,1,2 and attempts to address it require a clear understanding of how ecological communities respond to environmental change across time and space.3,4 While the increasing availability of global databases on ecological communities has advanced our knowledge of biodiversity sensitivity to environmental changes,5,6,7 vast areas of the tropics remain understudied.8,9,10,11 In the American tropics, Amazonia stands out as the world's most diverse rainforest and the primary source of Neotropical biodiversity,12 but it remains among the least known forests in America and is often underrepresented in biodiversity databases.13,14,15 To worsen this situation, human-induced modifications16,17 may eliminate pieces of the Amazon's biodiversity puzzle before we can use them to understand how ecological communities are responding. To increase generalization and applicability of biodiversity knowledge,18,19 it is thus crucial to reduce biases in ecological research, particularly in regions projected to face the most pronounced environmental changes. We integrate ecological community metadata of 7,694 sampling sites for multiple organism groups in a machine learning model framework to map the research probability across the Brazilian Amazonia, while identifying the region's vulnerability to environmental change. 15%–18% of the most neglected areas in ecological research are expected to experience severe climate or land use changes by 2050. This means that unless we take immediate action, we will not be able to establish their current status, much less monitor how it is changing and what is being lost

    As associações de pacientes com doenças raras e as mídias sociais

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    Submitted by RepositĂłrio Arca ([email protected]) on 2020-03-11T15:55:14Z No. of bitstreams: 2 license.txt: 1748 bytes, checksum: 8a4605be74aa9ea9d79846c1fba20a33 (MD5) maria_lima_iff_dout_2018.pdf: 2136552 bytes, checksum: 59c1b9b9d98952292f50a5376eab3971 (MD5)Approved for entry into archive by Maria Arruda ([email protected]) on 2020-03-23T19:54:21Z (GMT) No. of bitstreams: 2 maria_lima_iff_dout_2018.pdf: 2136552 bytes, checksum: 59c1b9b9d98952292f50a5376eab3971 (MD5) license.txt: 1748 bytes, checksum: 8a4605be74aa9ea9d79846c1fba20a33 (MD5)Made available in DSpace on 2020-03-23T19:54:21Z (GMT). No. of bitstreams: 2 maria_lima_iff_dout_2018.pdf: 2136552 bytes, checksum: 59c1b9b9d98952292f50a5376eab3971 (MD5) license.txt: 1748 bytes, checksum: 8a4605be74aa9ea9d79846c1fba20a33 (MD5) Previous issue date: 2018Fundação Oswaldo Cruz. Instituto Nacional de SaĂşde da Mulher da Criança e do Adolescente Fernandes Figueira. Rio de Janeiro, RJ, Brasil.A PolĂ­tica Nacional de Atenção Integral Ă s Pessoas com Doenças Raras (PNAIPDR), promulgada em 2014, Ă© resultado do trabalho de associações de pacientes com doenças raras que contou com a participação de profissionais de saĂşde e do Estado. As doenças raras sĂŁo caracterizadas por serem entidades nosolĂłgicas pouco frequentes, porĂ©m, representam um contingente populacional considerável. A emergĂŞncia do termo \2018doenças raras\2019, embora recente no paĂ­s, tem um uso polĂ­tico desde a sua concepção nos anos 1980 nos Estados Unidos da AmĂ©rica. Tentar compreender os motivos pelos quais as associações de pacientes com doenças raras se aproximaram do movimento social em saĂşde e, o modo como se deu este processo foram questões que nortearam esta pesquisa, especialmente no que tange ao modo como tais associações buscaram engajar seu pĂşblico, desde os anos que antecederam a promulgação da PNAIPDR atĂ© os dias atuais. Para tanto, empregamos o mĂ©todo da netnografia, usando como fontes as páginas das associações de pacientes com doenças raras no Facebook, o que totalizou 102 páginas. Foram avaliadas as mensagens publicadas, desde o inĂ­cio da rede social atĂ© o final do ano de 2016, em todas as páginas de associações de pacientes relacionadas Ă s doenças raras na rede social. A análise permitiu identificar as principais atividades das associações de pacientes, que inclui a busca por direitos, em especial, o acesso a tratamentos de alto custo, a troca de conhecimentos e o exercĂ­cio do papel de expert leigo, a colaboração com pesquisas cientĂ­ficas e a atuação polĂ­ticas dos grupos no âmbito nacional. AlĂ©m disso, observamos que a identidade de \2018raros\2019 vem sendo elaborada, ao longo do tempo, na rede social, sendo importante notar que tal identidade tem um papel polĂ­tico, mas tambĂ©m se relaciona Ă  subjetividade dos indivĂ­duos que estĂŁo ligados direta ou indiretamente Ă s associações. Por fim, temas parcialmente abordados pelas associações em suas páginas na rede social, a saber, inclusĂŁo e genĂ©tica, sĂŁo discutidos, ressaltando as possĂ­veis consequĂŞncias desta parcialidade para o movimento social. As associações de pacientes tĂŞm um papel fundamental na elaboração de polĂ­ticas pĂşblicas de saĂşde, sobretudo Ă s relacionadas Ă s doenças raras, o que em Ăşltima análise resulta no fortalecimento da democracia. O movimento social, sem dĂşvida, Ă© plural, nĂŁo sĂł em seu aspecto constitutivo, mas tambĂ©m nas ações e intenções. Assim, pondera-se sobre os efeitos do ativismo relacionado Ă s doenças raras, se gerarĂŁo ganhos sistĂŞmicos substanciais ou se reproduzem modelos antigos.Enacted in 2014, the National Policy of Integral Attention geared at People with Rare Diseases (PNAIPDR) is the result of the work of rare diseases patients\2019 associations in conjunction with health care professionals and the State. Rare diseases are characterized by their low frequencies, nevertheless they represent a large population. The emergence of the term \2018rare disease\2019, even though recent in the country, has been used politically since its conception, in the 1980s in the United States of America. Trying to understand the reasons that motivated rare diseases patients\2019 associations to take part in the social movement in health, and the way this happened were the main issues that orientated this research, particularly in regard to the way those associations seeked to engage their public, since the years preceding the enactment of PNAIPDR to current days. For this purpose, we used netnography as a method. The source were the Facebook pages of patients\2019 associations, in a total of 102 pages. All messages published in those pages, since the launch of the social network until December of 2016, were analyzed. This enabled us to identify patients\2019 associations main activities, which included the pursuit of rights, specially access to high-cost treatment, the network of knowledge exchange, the experience as lay expert, the cooperation in scientific research and politial activities in the country. Furthermore, we have identified that the identity of \2018rare\2019 is being crafted in the long run, in the social network. 000081143 520 L aWe highlight that this identity has a political role, but it also relates to individual subjectivity who are directly, or indirectly linked to the associations. Lastly, themes that were partially mentioned in the social network, such as inclusion and genetics are discussed, emphasizing the possible consequences of this bias to the social movement. Patients\2019 associations have a major role in the elaboration of health policies, mainly the ones related to rare diseases, what ultimately results in strengthening of democracy. The social movement is undoubtedly diverse, not only in its constitutive aspects, but also in regard to actions and intentions of each patients\2019 association. Therefore, we consider what will be the effects of activism related to rare diseases, whether they will generate substantial systemic gains or if they reproduce outdated models

    Contradições das políticas públicas voltadas para doenças raras: o exemplo do Programa de Tratamento da Osteogênese Imperfeita no SUS

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    O artigo visa discutir o processo de consolidação de uma política pública, no Brasil, voltada a uma doença rara - a osteogênese imperfeita, cujo tratamento passou a responsabilidade do SUS em 2001 através da Portaria GM/MS2305/2001. O processo de implementação desta terapia vem sendo acompanhado de contradições, sobretudo no que diz respeito às decisões terapêuticas e ao fortalecimento da rede especializada na abordagem desta condição, atitudes claramente percebidas tanto no processo de elaboração quanto no texto da nova Portaria 714/2010

    Neurological Phenotypes of Gene Variants: A Report of Four Novel Variants

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    IRF2BPL gene variants have recently been associated to developmental disability and epilepsy in children and movement disorders in adults. So far, only few cases have been reported; here we present four novel cases identified by exome sequencing, while investigating developmental delay, adult-onset cerebellar ataxia or regression

    Spinocerebellar Ataxias in Brazil-Frequencies and Modulating Effects of Related Genes

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    This study describes the frequency of spinocerebellar ataxias and of CAG repeats range in different geographical regions of Brazil, and explores the hypothetical role of normal CAG repeats at ATXN1, ATXN2, ATXN3, CACNA1A, and ATXN7 genes on age at onset and on neurological findings. Patients with symptoms and family history compatible with a SCA were recruited in 11 cities of the country; clinical data and DNA samples were collected. Capillary electrophoresis was performed to detect CAG lengths at SCA1, SCA2, SCA3/MJD, SCA6, SCA7, SCA12, SCA17, and DRPLA associated genes, and a repeat primed PCR was used to detect ATTCT expansions at SCA10 gene. Five hundred forty-four patients (359 families) were included. There were 214 SCA3/MJD families (59.6 %), 28 SCA2 (7.8 %), 20 SCA7 (5.6 %), 15 SCA1 (4.2 %), 12 SCA10 (3.3 %), 5 SCA6 (1.4 %), and 65 families without a molecular diagnosis (18.1 %). Divergent rates of SCA3/MJD, SCA2, and SCA7 were seen in regions with different ethnic backgrounds. 64.7 % of our SCA10 patients presented seizures. Among SCA2 patients, longer ATXN3 CAG alleles were associated with earlier ages at onset (p<0.036, linear regression). A portrait of SCAs in Brazil was obtained, where variation in frequencies seemed to parallel ethnic differences. New potential interactions between some SCA-related genes were presented.FAPERGSConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)INAGEMPFIPE-HCPAHosp Clin Porto Alegre, Med Genet Serv, BR-90035903 Porto Alegre, RS, BrazilHosp Clin Porto Alegre, Lab Genet Identificat, BR-90035903 Porto Alegre, RS, BrazilUniversidade Federal de São Paulo, UNIFESP Escola Paulista Med, Disciplina Neurol Clin, Setor Neurol Geral & Ataxias, São Paulo, BrazilDisciplina Neurol Santa Casa São Paulo, São Paulo, BrazilUniv Fed Estado Rio de Janeiro, Rio de Janeiro, BrazilUniv Fed Rio de Janeiro, Postgrad Program, Rio de Janeiro, BrazilInst Nacl Canc, Genet Counseling Program, Rio de Janeiro, BrazilUniv Fed Rio Grande do Norte, BR-59072970 Natal, RN, BrazilFed Univ Para, Inst Ciencias Biol, Lab Erros Inatos Metab, BR-66059 Belem, Para, BrazilUniv Fed Bahia, Salvador, BA, BrazilUniv Estadual Paraiba, Campina Grande, BrazilCtr Reabilitacao Dr Henrique Santillo, Goiania, Go, BrazilAPAE Vitoria, Espirito Santo, BrazilUniv Fed Campina Grande, Paraiba, BrazilUniv Fed Santa Catarina, Florianopolis, SC, BrazilAssoc Cearense Doencas Genet, Fortaleza, Ceara, BrazilUniv Fed Rio Grande do Sul, Dept Internal Med, Porto Alegre, RS, BrazilUniv Fed Rio Grande do Sul, Postgrad Program Med Sci, Porto Alegre, RS, BrazilUniv Fed Rio Grande do Sul, Postgrad Program Genet & Mol Biol, Porto Alegre, RS, BrazilInst Nacl Genet Med Populac INAGEMP, Porto Alegre, RS, BrazilUniversidade Federal de São Paulo, UNIFESP Escola Paulista Med, Disciplina Neurol Clin, Setor Neurol Geral & Ataxias, São Paulo, BrazilWeb of Scienc
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